ClinVar for MedGen (Select 57890) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3779305	NM_001399.5(EDA):c.53G>C (p.Arg18Pro)	EDA (R18P)	Single nucleotide variant (missense variant)	Hypohidrotic X-linked ectodermal dysplasia	GUncertain significance
Select item 3730396	NM_001399.5(EDA):c.562C>T (p.Pro188Ser)	EDA (P188S)	Single nucleotide variant (missense variant)	Hypohidrotic X-linked ectodermal dysplasia	GUncertain significance
Select item 3724258	NM_001399.5(EDA):c.959A>G (p.Tyr320Cys)	EDA (Y320C +2 more)	Single nucleotide variant (missense variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely pathogenic
Select item 3724257	NM_001399.5(EDA):c.754C>T (p.His252Tyr)	EDA (H252Y)	Single nucleotide variant (missense variant)	Hypohidrotic X-linked ectodermal dysplasia	GPathogenic
Select item 3724256	NM_001399.5(EDA):c.742-2A>G	EDA	Single nucleotide variant (splice acceptor variant)	Hypohidrotic X-linked ectodermal dysplasia	GPathogenic
Select item 3724255	NM_001399.5(EDA):c.133G>C (p.Gly45Arg)	EDA (G45R)	Single nucleotide variant (missense variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely pathogenic
Select item 3724125	NM_001399.5(EDA):c.984dup (p.Phe329fs)	EDA (F324fs +2 more)	Duplication (frameshift variant)	Hypohidrotic X-linked ectodermal dysplasia	GPathogenic
Select item 3668091	NM_001399.5(EDA):c.865C>G (p.Arg289Gly)	EDA (R286G +1 more)	Single nucleotide variant (missense variant)	Hypohidrotic X-linked ectodermal dysplasia	GUncertain significance
Select item 3666739	NM_001399.5(EDA):c.448G>T (p.Glu150Ter)	EDA (E150*)	Single nucleotide variant (nonsense)	Hypohidrotic X-linked ectodermal dysplasia	GPathogenic
Select item 3664542	NM_001399.5(EDA):c.983C>A (p.Pro328His)	EDA (P326H +2 more)	Single nucleotide variant (missense variant)	Hypohidrotic X-linked ectodermal dysplasia	GUncertain significance
Select item 3659733	NM_001399.5(EDA):c.798T>G (p.Leu266=)	EDA	Single nucleotide variant (synonymous variant +1 more)	Hypohidrotic X-linked ectodermal dysplasia	GLikely benign
Select item 3657676	NM_001399.5(EDA):c.848T>G (p.Val283Gly)	EDA (V280G +1 more)	Single nucleotide variant (missense variant)	Hypohidrotic X-linked ectodermal dysplasia	GUncertain significance
Select item 3655263	NM_001399.5(EDA):c.931del (p.Tyr311fs)	EDA (Y309fs +2 more)	Deletion (frameshift variant)	Hypohidrotic X-linked ectodermal dysplasia	GPathogenic
Select item 3647008	NM_001399.5(EDA):c.585_706+6delinsTCCTCCTGGTCC	EDA	Indel (splice donor variant)	Hypohidrotic X-linked ectodermal dysplasia	GPathogenic
Select item 3645326	NM_001399.5(EDA):c.850T>C (p.Phe284Leu)	EDA (F281L +1 more)	Single nucleotide variant (missense variant)	Hypohidrotic X-linked ectodermal dysplasia	GPathogenic
Select item 3644762	NM_001399.5(EDA):c.750G>T (p.Val250=)	EDA	Single nucleotide variant (synonymous variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely benign
Select item 3642767	NM_001399.5(EDA):c.903C>T (p.Tyr301=)	EDA	Single nucleotide variant (synonymous variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely benign
Select item 3642048	NM_001399.5(EDA):c.231C>T (p.Arg77=)	EDA	Single nucleotide variant (synonymous variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely benign
Select item 3641809	NM_001399.5(EDA):c.397-17A>G	EDA	Single nucleotide variant (intron variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely benign
Select item 3640928	NM_001399.5(EDA):c.526+19A>G	EDA	Single nucleotide variant (intron variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely benign
Select item 3639922	NM_001399.5(EDA):c.706+11del	EDA	Deletion (intron variant)	Hypohidrotic X-linked ectodermal dysplasia	GBenign
Select item 3393167	NM_001399.5(EDA):c.146T>C (p.Leu49Pro)	EDA (L49P)	Single nucleotide variant (missense variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely pathogenic
Select item 3381875	NM_001399.5(EDA):c.99_100dup (p.Ala34fs)	EDA (A34fs)	Duplication (frameshift variant)	Hypohidrotic X-linked ectodermal dysplasia	GPathogenic
Select item 3377342	NM_001399.5(EDA):c.1073A>G (p.Gln358Arg)	EDA (Q353R +2 more)	Single nucleotide variant (missense variant)	Hypohidrotic X-linked ectodermal dysplasia	GUncertain significance
Select item 3376738	NM_001399.5(EDA):c.167T>C (p.Leu56Pro)	EDA (L56P)	Single nucleotide variant (missense variant)	Anhidrotic ectodermal dysplasia +1 more	GPathogenic
Select item 3338522	NM_001399.5(EDA):c.769G>A (p.Gly257Arg)	EDA (G257R)	Single nucleotide variant (missense variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely pathogenic
Select item 3255519	NM_001399.5(EDA):c.599C>T (p.Pro200Leu)	EDA (P200L)	Single nucleotide variant (missense variant)	Hypohidrotic X-linked ectodermal dysplasia	GPathogenic
Select item 3243825	NC_000023.10:g.(?_69176857)_(69247906_?)dup	EDA	Duplication	Hypohidrotic X-linked ectodermal dysplasia	GLikely pathogenic
Select item 3243814	NC_000023.10:g.(?_68836153)_(69255459_?)del	EDA	Deletion	Hypohidrotic X-linked ectodermal dysplasia	GPathogenic
Select item 3076008	NM_001399.5(EDA):c.382del (p.Gln128fs)	EDA (Q128fs)	Deletion (frameshift variant)	Hypohidrotic X-linked ectodermal dysplasia	GPathogenic
Select item 3076004	NC_000023.11:g.(?_69956687)_(69957126_?)del	EDA	Deletion	Hypohidrotic X-linked ectodermal dysplasia	GPathogenic
Select item 3075997	NC_000023.11:g.(?_69616225)_(69616454_?)del	EDA	Deletion	Hypohidrotic X-linked ectodermal dysplasia	GPathogenic
Select item 3068478	NM_001399.5(EDA):c.254dup (p.Thr86fs)	EDA (T86fs)	Duplication (frameshift variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely pathogenic
Select item 3023488	NM_001399.5(EDA):c.197C>T (p.Ser66Leu)	EDA (S66L)	Single nucleotide variant (missense variant)	Hypohidrotic X-linked ectodermal dysplasia	GBenign
Select item 3022281	NM_001399.5(EDA):c.1143G>T (p.Gly381=)	EDA	Single nucleotide variant (synonymous variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely benign
Select item 3021375	NM_001399.5(EDA):c.273C>T (p.Ser91=)	EDA	Single nucleotide variant (synonymous variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely benign
Select item 3019001	NM_001399.5(EDA):c.707-15T>G	EDA	Single nucleotide variant (intron variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely benign
Select item 3014235	NM_001399.5(EDA):c.497C>T (p.Ala166Val)	EDA (A166V)	Single nucleotide variant (missense variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely benign
Select item 3007932	NM_001399.5(EDA):c.327G>C (p.Pro109=)	EDA	Single nucleotide variant (synonymous variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely benign
Select item 2987777	NM_001399.5(EDA):c.810G>A (p.Val270=)	EDA	Single nucleotide variant (synonymous variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely benign
Select item 2987560	NM_001399.5(EDA):c.924+14T>G	EDA	Single nucleotide variant (intron variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely benign
Select item 2983628	NM_001399.5(EDA):c.707-17C>A	EDA	Single nucleotide variant (intron variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely benign
Select item 2983022	NM_001399.5(EDA):c.502+10_502+14del	EDA	Deletion (frameshift variant +1 more)	Hypohidrotic X-linked ectodermal dysplasia	GLikely benign
Select item 2967361	NM_001399.5(EDA):c.462T>C (p.Val154=)	EDA	Single nucleotide variant (synonymous variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely benign
Select item 2963880	NM_001399.5(EDA):c.924+9G>A	EDA	Single nucleotide variant (intron variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely benign
Select item 2954664	NM_001399.5(EDA):c.986T>G (p.Phe329Cys)	EDA (F327C +2 more)	Single nucleotide variant (missense variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely pathogenic
Select item 2920485	NM_001399.5(EDA):c.612G>A (p.Gly204=)	EDA	Single nucleotide variant (synonymous variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely benign
Select item 2916905	NM_001399.5(EDA):c.527-19A>G	EDA	Single nucleotide variant (intron variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely benign
Select item 2907244	NM_001399.5(EDA):c.503-14T>C	EDA	Single nucleotide variant (intron variant)	Hypohidrotic X-linked ectodermal dysplasia	GBenign
Select item 2901427	NM_001399.5(EDA):c.925-17T>G	EDA	Single nucleotide variant (intron variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely benign
Select item 2900223	NM_001399.5(EDA):c.794-14_794-12del	EDA	Deletion (intron variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely benign
Select item 2899138	NM_001399.5(EDA):c.706+14T>A	EDA	Single nucleotide variant (intron variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely benign
Select item 2898216	NM_001399.5(EDA):c.741+18C>G	EDA	Single nucleotide variant (intron variant)	Hypohidrotic X-linked ectodermal dysplasia	GBenign
Select item 2893818	NM_001399.5(EDA):c.794-7T>C	EDA	Single nucleotide variant (intron variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely benign
Select item 2890603	NM_001399.5(EDA):c.925-11C>T	EDA	Single nucleotide variant (intron variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely benign
Select item 2889951	NM_001399.5(EDA):c.1044C>T (p.Thr348=)	EDA	Single nucleotide variant (synonymous variant)	Hypohidrotic X-linked ectodermal dysplasia	GBenign
Select item 2885481	NM_001399.5(EDA):c.924+15A>C	EDA	Single nucleotide variant (intron variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely benign
Select item 2883009	NM_001399.5(EDA):c.526+17A>G	EDA	Single nucleotide variant (intron variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely benign
Select item 2882608	NM_001399.5(EDA):c.205C>T (p.Arg69Trp)	EDA (R69W)	Single nucleotide variant (missense variant)	Hypohidrotic X-linked ectodermal dysplasia	GBenign
Select item 2871008	NM_001399.5(EDA):c.831C>T (p.Ile277=)	EDA	Single nucleotide variant (synonymous variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely benign
Select item 2864041	NM_001399.5(EDA):c.793+20C>G	EDA	Single nucleotide variant (intron variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely benign
Select item 2859390	NM_001399.5(EDA):c.883del (p.Val295fs)	EDA (V295fs +1 more)	Deletion (frameshift variant)	Hypohidrotic X-linked ectodermal dysplasia	GPathogenic
Select item 2858024	NM_001399.5(EDA):c.993G>A (p.Gln331=)	EDA	Single nucleotide variant (synonymous variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely benign
Select item 2857815	NM_001399.5(EDA):c.706+8C>A	EDA	Single nucleotide variant (intron variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely benign
Select item 2855912	NM_001399.5(EDA):c.459T>G (p.Arg153=)	EDA	Single nucleotide variant (synonymous variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely benign
Select item 2853402	NM_001399.5(EDA):c.625C>T (p.Pro209Ser)	EDA (P209S)	Single nucleotide variant (missense variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely pathogenic
Select item 2852235	NM_001399.5(EDA):c.527-9A>G	EDA	Single nucleotide variant (intron variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely benign
Select item 2850699	NM_001399.5(EDA):c.597C>T (p.Pro199=)	EDA	Single nucleotide variant (synonymous variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely benign
Select item 2845463	NM_001399.5(EDA):c.897C>T (p.Gly299=)	EDA	Single nucleotide variant (synonymous variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely benign
Select item 2841990	NM_001399.5(EDA):c.1029del (p.Asn342_Tyr343insTer)	EDA	Deletion (nonsense)	Hypohidrotic X-linked ectodermal dysplasia	GPathogenic
Select item 2841731	NM_001399.5(EDA):c.166C>T (p.Leu56=)	EDA	Single nucleotide variant (synonymous variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely benign
Select item 2841483	NM_001399.5(EDA):c.321G>C (p.Gly107=)	EDA	Single nucleotide variant (synonymous variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely benign
Select item 2840483	NM_001399.5(EDA):c.1010A>T (p.Glu337Val)	EDA (E332V +2 more)	Single nucleotide variant (missense variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely benign
Select item 2836470	NM_001399.5(EDA):c.1144G>T (p.Ala382Ser)	EDA (A382S +2 more)	Single nucleotide variant (missense variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely benign
Select item 2835516	NM_001399.5(EDA):c.565G>A (p.Gly189Arg)	EDA (G189R)	Single nucleotide variant (missense variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely pathogenic
Select item 2830542	NM_001399.5(EDA):c.532A>G (p.Lys178Glu)	EDA (K178E)	Single nucleotide variant (missense variant)	Hypohidrotic X-linked ectodermal dysplasia	GUncertain significance
Select item 2828057	NM_001399.5(EDA):c.527-18del	EDA	Deletion (intron variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely benign
Select item 2825570	NM_001399.5(EDA):c.1111A>T (p.Ile371Phe)	EDA (I366F +2 more)	Single nucleotide variant (missense variant)	Hypohidrotic X-linked ectodermal dysplasia	GUncertain significance
Select item 2823886	NM_001399.5(EDA):c.397-2A>T	EDA	Single nucleotide variant (splice acceptor variant)	Hypohidrotic X-linked ectodermal dysplasia	GPathogenic
Select item 2822020	NM_001399.5(EDA):c.572del (p.Pro191fs)	EDA (P191fs)	Deletion (frameshift variant)	Hypohidrotic X-linked ectodermal dysplasia	GPathogenic
Select item 2816320	NM_001399.5(EDA):c.803G>T (p.Gly268Val)	EDA (G268V +1 more)	Single nucleotide variant (missense variant)	Hypohidrotic X-linked ectodermal dysplasia	GUncertain significance
Select item 2813737	NM_001399.5(EDA):c.958T>C (p.Tyr320His)	EDA (Y318H +2 more)	Single nucleotide variant (missense variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely pathogenic
Select item 2810309	NM_001399.5(EDA):c.1012A>G (p.Thr338Ala)	EDA (T338A +2 more)	Single nucleotide variant (missense variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely pathogenic
Select item 2809457	NM_001399.5(EDA):c.644G>A (p.Gly215Glu)	EDA (G215E)	Single nucleotide variant (missense variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely pathogenic
Select item 2809152	NM_001399.5(EDA):c.895G>T (p.Gly299Cys)	EDA (G296C +1 more)	Single nucleotide variant (missense variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely pathogenic
Select item 2808888	NM_001399.5(EDA):c.503-13A>G	EDA	Single nucleotide variant (intron variant)	Hypohidrotic X-linked ectodermal dysplasia	GBenign
Select item 2806159	NM_001399.5(EDA):c.149C>G (p.Ser50Trp)	EDA (S50W)	Single nucleotide variant (missense variant)	Hypohidrotic X-linked ectodermal dysplasia	GUncertain significance
Select item 2805628	NM_001399.5(EDA):c.927A>G (p.Val309=)	EDA	Single nucleotide variant (synonymous variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely benign
Select item 2802027	NM_001399.5(EDA):c.672T>C (p.Gly224=)	EDA	Single nucleotide variant (synonymous variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely benign
Select item 2799014	NM_001399.5(EDA):c.288C>G (p.Leu96=)	EDA	Single nucleotide variant (synonymous variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely benign
Select item 2798418	NM_001399.5(EDA):c.414C>T (p.Phe138=)	EDA	Single nucleotide variant (synonymous variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely benign
Select item 2780430	NM_001399.5(EDA):c.741+17T>C	EDA	Single nucleotide variant (intron variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely benign
Select item 2780326	NM_001399.5(EDA):c.375T>C (p.Ser125=)	EDA	Single nucleotide variant (synonymous variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely benign
Select item 2773022	NM_001399.5(EDA):c.225G>A (p.Glu75=)	EDA	Single nucleotide variant (synonymous variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely benign
Select item 2772014	NM_001399.5(EDA):c.706+14T>C	EDA	Single nucleotide variant (intron variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely benign
Select item 2771349	NM_001399.5(EDA):c.925-13G>A	EDA	Single nucleotide variant (intron variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely benign
Select item 2768449	NM_001399.5(EDA):c.1066G>A (p.Ala356Thr)	EDA (A354T +2 more)	Single nucleotide variant (missense variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely pathogenic
Select item 2767492	NM_001399.5(EDA):c.1029C>G (p.Tyr343Ter)	EDA (Y341* +2 more)	Single nucleotide variant (nonsense)	Hypohidrotic X-linked ectodermal dysplasia	GPathogenic
Select item 2764719	NM_001399.5(EDA):c.924+4A>T	EDA	Single nucleotide variant (intron variant)	Hypohidrotic X-linked ectodermal dysplasia	GPathogenic
Select item 2760701	NM_001399.5(EDA):c.707-7T>C	EDA	Single nucleotide variant (intron variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely benign

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