EDAR[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152537	GRCh38/hg38 2q11.1-13(chr2:94678532-110602409)x3	ACTR1B, ADRA2B +550 more	Copy number gain	See cases	GPathogenic
Select item 59147	GRCh38/hg38 2q11.2-13(chr2:97672522-110211318)x3	AFF3, C2orf15 +373 more	Copy number gain	See cases	GPathogenic
Select item 149662	GRCh38/hg38 2q11.2-13(chr2:101710825-110791418)x3	ACOXL, BUB1 +241 more	Copy number gain	See cases	GPathogenic
Select item 152239	GRCh38/hg38 2q12.2-14.1(chr2:106428663-112379067)x3	ACOXL, ACOXL-AS1 +154 more	Copy number gain	See cases	GUncertain significance
Select item 150754	GRCh38/hg38 2q12.2-13(chr2:106516472-110576905)x3	CCDC138, CD8B2 +99 more	Copy number gain	See cases	GUncertain significance
Select item 59313	GRCh38/hg38 2q12.2-13(chr2:106696282-110223328)x3	CCDC138, EDAR +93 more	Copy number gain	See cases	GUncertain significance
Select item 144754	GRCh38/hg38 2q12.3-13(chr2:107962353-109700179)x1	CCDC138, EDAR +67 more	Copy number loss	See cases	GUncertain significance
Select item 464169	Single allele	CCDC138, EDAR +31 more	Duplication	Congenital myasthenic syndrome 20 +1 more	GUncertain significance
Select item 153852	GRCh38/hg38 2q12.3-13(chr2:108526866-109746741)x1	CCDC138, EDAR +56 more	Copy number loss	See cases	GUncertain significance
Select item 57544	GRCh38/hg38 2q12.3-13(chr2:108579001-109736559)x1	CCDC138, EDAR +51 more	Copy number loss	See cases	GPathogenic
Select item 146441	GRCh38/hg38 2q12.3-13(chr2:108593876-109700179)x1	CCDC138, EDAR +50 more	Copy number loss	See cases	GUncertain significance
Select item 153634	GRCh38/hg38 2q12.3-13(chr2:108660713-109735214)x1	CCDC138, EDAR +44 more	Copy number loss	See cases	GUncertain significance
Select item 147380	GRCh38/hg38 2q12.3-13(chr2:108681906-109700179)x3	CCDC138, EDAR +42 more	Copy number gain	See cases	GUncertain significance
Select item 148286	GRCh38/hg38 2q13(chr2:108719125-110611314)x3	CCDC138, EDAR +61 more	Copy number gain	See cases	GUncertain significance
Select item 655229	NC_000002.11:g.(?_109336043)_(109579739_?)dup	LOC129388898, LOC129934529 +5 more	Duplication	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +2 more	GUncertain significance
Select item 584060	NC_000002.12:g.(?_108719587)_(108963283_?)del	CCDC138, EDAR +5 more	Deletion	Familial acute necrotizing encephalopathy	GUncertain significance
Select item 657900	NC_000002.11:g.(?_109367964)_(109579739_?)dup	CCDC138, EDAR +5 more	Duplication	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +1 more	GUncertain significance
Select item 369306	NM_022336.3(EDAR):c.*2450G>A	EDAR, RANBP2	Single nucleotide variant	Hypohidrotic Ectodermal Dysplasia, Dominant	GLikely benign
Select item 5850	NC_000002.12:g.(?_108894471)_(108989220_?)del	EDAR, LOC126806303 +2 more	Deletion	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive	GPathogenic
Select item 330682	NM_022336.4(EDAR):c.2426_2430del	EDAR, RANBP2	Deletion (3 prime UTR variant)	Hypohidrotic Ectodermal Dysplasia, Dominant	GUncertain significance
Select item 330683	NM_022336.4(EDAR):c.*2426C>T	EDAR, RANBP2	Single nucleotide variant (3 prime UTR variant)	Hypohidrotic ectodermal dysplasia +2 more	GBenign
Select item 894453	NM_022336.4(EDAR):c.*2376T>C	EDAR, RANBP2	Single nucleotide variant (3 prime UTR variant)	Hypohidrotic ectodermal dysplasia	GUncertain significance
Select item 894454	NM_022336.4(EDAR):c.*2189G>T	EDAR, RANBP2	Single nucleotide variant (3 prime UTR variant)	Hypohidrotic ectodermal dysplasia	GUncertain significance
Select item 330684	NM_022336.4(EDAR):c.2151_2154dup	EDAR, RANBP2	Duplication (3 prime UTR variant)	Hypohidrotic Ectodermal Dysplasia, Dominant	GLikely benign
Select item 894455	NM_022336.4(EDAR):c.*2141T>C	RANBP2, EDAR	Single nucleotide variant (3 prime UTR variant)	Hypohidrotic ectodermal dysplasia	GBenign
Select item 894456	NM_022336.4(EDAR):c.*2078T>C	EDAR, RANBP2	Single nucleotide variant (3 prime UTR variant)	Hypohidrotic ectodermal dysplasia	GBenign
Select item 894457	NM_022336.4(EDAR):c.*2016G>C	EDAR, RANBP2	Single nucleotide variant (3 prime UTR variant)	Hypohidrotic ectodermal dysplasia	GUncertain significance
Select item 330685	NM_022336.4(EDAR):c.*1900C>T	RANBP2, EDAR	Single nucleotide variant (3 prime UTR variant)	Hypohidrotic Ectodermal Dysplasia, Dominant +1 more	GBenign/Likely benign
Select item 330686	NM_022336.4(EDAR):c.*1888GAGT[1]	EDAR, RANBP2	Microsatellite (3 prime UTR variant)	Hypohidrotic Ectodermal Dysplasia, Dominant	GLikely benign
Select item 893024	NM_022336.4(EDAR):c.*1798G>C	EDAR, RANBP2	Single nucleotide variant (3 prime UTR variant)	Hypohidrotic ectodermal dysplasia	GUncertain significance
Select item 893025	NM_022336.4(EDAR):c.*1774G>A	EDAR, RANBP2	Single nucleotide variant (3 prime UTR variant)	Hypohidrotic ectodermal dysplasia	GBenign
Select item 330687	NM_022336.4(EDAR):c.*1761G>A	EDAR, RANBP2	Single nucleotide variant (3 prime UTR variant)	Hypohidrotic Ectodermal Dysplasia, Dominant +1 more	GUncertain significance
Select item 893026	NM_022336.4(EDAR):c.*1710G>C	EDAR, RANBP2	Single nucleotide variant (3 prime UTR variant)	Hypohidrotic ectodermal dysplasia	GUncertain significance
Select item 893027	NM_022336.4(EDAR):c.*1703G>A	EDAR, RANBP2	Single nucleotide variant (3 prime UTR variant)	Hypohidrotic ectodermal dysplasia	GUncertain significance
Select item 893028	NM_022336.4(EDAR):c.*1678C>T	EDAR, RANBP2	Single nucleotide variant (3 prime UTR variant)	Hypohidrotic ectodermal dysplasia	GBenign
Select item 893029	NM_022336.4(EDAR):c.*1647C>T	EDAR, RANBP2	Single nucleotide variant (3 prime UTR variant)	Hypohidrotic ectodermal dysplasia	GUncertain significance
Select item 330688	NM_022336.4(EDAR):c.*1598T>C	EDAR, RANBP2	Single nucleotide variant (3 prime UTR variant)	Hypohidrotic ectodermal dysplasia +2 more	GBenign
Select item 893242	NM_022336.4(EDAR):c.*1563C>T	EDAR, RANBP2	Single nucleotide variant (3 prime UTR variant)	Hypohidrotic ectodermal dysplasia	GUncertain significance
Select item 330689	NM_022336.4(EDAR):c.*1535C>T	RANBP2, EDAR	Single nucleotide variant (3 prime UTR variant)	Hypohidrotic Ectodermal Dysplasia, Dominant +1 more	GUncertain significance
Select item 893243	NM_022336.4(EDAR):c.*1435G>A	EDAR, RANBP2	Single nucleotide variant (3 prime UTR variant)	Hypohidrotic ectodermal dysplasia	GUncertain significance
Select item 893244	NM_022336.4(EDAR):c.*1366A>G	EDAR, RANBP2	Single nucleotide variant (3 prime UTR variant)	Hypohidrotic ectodermal dysplasia	GLikely benign
Select item 893245	NM_022336.4(EDAR):c.*1364T>G	EDAR, RANBP2	Single nucleotide variant (3 prime UTR variant)	Hypohidrotic ectodermal dysplasia	GLikely benign
Select item 330690	NM_022336.4(EDAR):c.*1319C>G	EDAR, RANBP2	Single nucleotide variant (3 prime UTR variant)	Hypohidrotic Ectodermal Dysplasia, Dominant +1 more	GUncertain significance
Select item 893246	NM_022336.4(EDAR):c.*1298G>C	EDAR, RANBP2	Single nucleotide variant (3 prime UTR variant)	Hypohidrotic ectodermal dysplasia	GUncertain significance
Select item 330691	NM_022336.4(EDAR):c.*1248G>T	EDAR, RANBP2	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 330692	NM_022336.4(EDAR):c.*1226A>C	EDAR, RANBP2	Single nucleotide variant (3 prime UTR variant)	Hypohidrotic Ectodermal Dysplasia, Dominant +1 more	GUncertain significance
Select item 894096	NM_022336.4(EDAR):c.*1199C>T	EDAR, RANBP2	Single nucleotide variant (3 prime UTR variant)	Hypohidrotic ectodermal dysplasia	GUncertain significance
Select item 330693	NM_022336.4(EDAR):c.*1181C>T	RANBP2, EDAR	Single nucleotide variant (3 prime UTR variant)	Hypohidrotic Ectodermal Dysplasia, Dominant +1 more	GUncertain significance
Select item 894097	NM_022336.4(EDAR):c.*1133C>T	EDAR, RANBP2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 330694	NM_022336.4(EDAR):c.*1129A>G	EDAR, RANBP2	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 894098	NM_022336.4(EDAR):c.*1108G>A	EDAR, RANBP2	Single nucleotide variant (3 prime UTR variant)	Hypohidrotic ectodermal dysplasia	GUncertain significance
Select item 330695	NM_022336.4(EDAR):c.*1107C>T	EDAR, RANBP2	Single nucleotide variant (3 prime UTR variant)	Hypohidrotic Ectodermal Dysplasia, Dominant +1 more	GBenign/Likely benign
Select item 330696	NM_022336.4(EDAR):c.*999C>T	RANBP2, EDAR	Single nucleotide variant (3 prime UTR variant)	Hypohidrotic ectodermal dysplasia +1 more	GBenign/Likely benign
Select item 894490	NM_022336.4(EDAR):c.*976A>G	EDAR, RANBP2	Single nucleotide variant (3 prime UTR variant)	Hypohidrotic ectodermal dysplasia	GUncertain significance
Select item 330697	NM_022336.4(EDAR):c.*935C>T	EDAR, RANBP2	Single nucleotide variant (3 prime UTR variant)	Hypohidrotic Ectodermal Dysplasia, Dominant +2 more	GBenign/Likely benign
Select item 330698	NM_022336.4(EDAR):c.*895C>T	EDAR, RANBP2	Single nucleotide variant (3 prime UTR variant)	Hypohidrotic Ectodermal Dysplasia, Dominant +1 more	GBenign/Likely benign
Select item 894491	NM_022336.4(EDAR):c.*867A>G	EDAR, RANBP2	Single nucleotide variant (3 prime UTR variant)	Hypohidrotic ectodermal dysplasia	GUncertain significance
Select item 894492	NM_022336.4(EDAR):c.*791A>T	EDAR, RANBP2	Single nucleotide variant (3 prime UTR variant)	Hypohidrotic ectodermal dysplasia	GUncertain significance
Select item 330699	NM_022336.4(EDAR):c.*757T>C	EDAR, RANBP2	Single nucleotide variant (3 prime UTR variant)	Hypohidrotic ectodermal dysplasia +2 more	GBenign/Likely benign
Select item 893065	NM_022336.4(EDAR):c.*714T>G	EDAR, RANBP2	Single nucleotide variant (3 prime UTR variant)	Hypohidrotic ectodermal dysplasia	GUncertain significance
Select item 893066	NM_022336.4(EDAR):c.*639T>G	RANBP2, EDAR	Single nucleotide variant (3 prime UTR variant)	Hypohidrotic ectodermal dysplasia	GUncertain significance
Select item 330700	NM_022336.4(EDAR):c.*625C>A	EDAR, RANBP2	Single nucleotide variant (3 prime UTR variant)	Hypohidrotic Ectodermal Dysplasia, Dominant +1 more	GUncertain significance
Select item 330701	NM_022336.4(EDAR):c.*602T>A	EDAR, RANBP2	Single nucleotide variant (3 prime UTR variant)	Hypohidrotic Ectodermal Dysplasia, Dominant +1 more	GUncertain significance
Select item 893067	NM_022336.4(EDAR):c.*546C>T	EDAR, RANBP2	Single nucleotide variant (3 prime UTR variant)	Hypohidrotic ectodermal dysplasia	GUncertain significance
Select item 330702	NM_022336.4(EDAR):c.*499C>T	EDAR, RANBP2	Single nucleotide variant (3 prime UTR variant)	Hypohidrotic Ectodermal Dysplasia, Dominant +1 more	GUncertain significance
Select item 893068	NM_022336.4(EDAR):c.*486G>A	RANBP2, EDAR	Single nucleotide variant (3 prime UTR variant)	Hypohidrotic ectodermal dysplasia	GUncertain significance
Select item 893069	NM_022336.4(EDAR):c.*485C>T	EDAR, RANBP2	Single nucleotide variant (3 prime UTR variant)	Hypohidrotic ectodermal dysplasia	GUncertain significance
Select item 893273	NM_022336.4(EDAR):c.*447T>C	EDAR, RANBP2	Single nucleotide variant (3 prime UTR variant)	Hypohidrotic ectodermal dysplasia	GUncertain significance
Select item 893274	NM_022336.4(EDAR):c.*402G>A	EDAR, RANBP2	Single nucleotide variant (3 prime UTR variant)	Hypohidrotic ectodermal dysplasia	GUncertain significance
Select item 330703	NM_022336.4(EDAR):c.*328G>A	EDAR, RANBP2	Single nucleotide variant (3 prime UTR variant)	Hypohidrotic Ectodermal Dysplasia, Dominant +1 more	GBenign/Likely benign
Select item 893275	NM_022336.4(EDAR):c.*254C>T	EDAR, RANBP2	Single nucleotide variant (3 prime UTR variant)	Hypohidrotic ectodermal dysplasia	GBenign
Select item 893276	NM_022336.4(EDAR):c.*242T>C	EDAR, RANBP2	Single nucleotide variant (3 prime UTR variant)	Hypohidrotic ectodermal dysplasia	GUncertain significance
Select item 893277	NM_022336.4(EDAR):c.*191C>T	EDAR, RANBP2	Single nucleotide variant (3 prime UTR variant)	Hypohidrotic ectodermal dysplasia	GUncertain significance
Select item 330704	NM_022336.4(EDAR):c.*188G>C	EDAR, RANBP2	Single nucleotide variant (3 prime UTR variant)	Hypohidrotic Ectodermal Dysplasia, Dominant +1 more	GUncertain significance
Select item 155862	NM_022336.4(EDAR):c.*42G>T	EDAR, RANBP2	Single nucleotide variant (3 prime UTR variant)	Hypohidrotic Ectodermal Dysplasia, Dominant +4 more	GBenign
Select item 261570	NM_022336.4(EDAR):c.*16G>C	EDAR, RANBP2	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 163325	NM_022336.3(EDAR):c.(?_998)_(1347_?)del	EDAR, RANBP2	Deletion	Autosomal dominant hypohidrotic ectodermal dysplasia	GPathogenic
Select item 3039813	NM_022336.4(EDAR):c.1338T>A (p.Ala446=)	EDAR, RANBP2	Single nucleotide variant (synonymous variant)	EDAR-related disorder	GLikely benign
Select item 2346296	NM_022336.4(EDAR):c.1309G>T (p.Val437Phe)	EDAR, RANBP2 (V437F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 703304	NM_022336.4(EDAR):c.1305G>A (p.Ala435=)	EDAR, RANBP2	Single nucleotide variant (synonymous variant)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +1 more	GBenign
Select item 633839	NM_022336.4(EDAR):c.1300T>G (p.Trp434Gly)	EDAR, RANBP2 (W434G)	Single nucleotide variant (missense variant)	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive	GPathogenic
Select item 2052298	NM_022336.4(EDAR):c.1297G>T (p.Glu433Ter)	EDAR, RANBP2 (E433*)	Single nucleotide variant (nonsense)	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome +1 more	GPathogenic
Select item 3375829	NM_022336.4(EDAR):c.1295T>C (p.Leu432Pro)	EDAR, RANBP2 (L432P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3057657	NM_022336.4(EDAR):c.1294C>T (p.Leu432=)	EDAR, RANBP2	Single nucleotide variant (synonymous variant)	EDAR-related disorder	GLikely benign
Select item 1464912	NM_022336.4(EDAR):c.1293A>G (p.Ile431Met)	EDAR, RANBP2 (I431M)	Single nucleotide variant (missense variant)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +1 more	GLikely pathogenic
Select item 1721247	NM_022336.4(EDAR):c.1292T>C (p.Ile431Thr)	EDAR, RANBP2 (I431T)	Single nucleotide variant (missense variant)	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome +1 more	GPathogenic
Select item 330705	NM_022336.4(EDAR):c.1288G>A (p.Asp430Asn)	EDAR, RANBP2 (D430N)	Single nucleotide variant (missense variant)	Hypohidrotic Ectodermal Dysplasia, Dominant +1 more	GUncertain significance
Select item 422144	NM_022336.4(EDAR):c.1284T>G (p.Cys428Trp)	EDAR, RANBP2 (C428W)	Single nucleotide variant (missense variant)	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome +2 more	GConflicting classifications of pathogenicity
Select item 267731	NM_022336.4(EDAR):c.1284T>A (p.Cys428Ter)	EDAR, RANBP2 (C428*)	Single nucleotide variant (nonsense)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant	GLikely pathogenic
Select item 1714868	NM_022336.4(EDAR):c.1282T>C (p.Cys428Arg)	EDAR, RANBP2 (C428R)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2950142	NM_022336.4(EDAR):c.1280T>C (p.Leu427Ser)	EDAR, RANBP2 (L427S)	Single nucleotide variant (missense variant)	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome +1 more	GPathogenic
Select item 1721078	NM_022336.4(EDAR):c.1280T>G (p.Leu427Trp)	EDAR, RANBP2 (L427W)	Single nucleotide variant (missense variant)	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome +1 more	GUncertain significance
Select item 3377143	NM_022336.4(EDAR):c.1273G>T (p.Glu425Ter)	EDAR, RANBP2 (E425*)	Single nucleotide variant (nonsense)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant	GLikely pathogenic
Select item 1420661	NM_022336.4(EDAR):c.1273G>A (p.Glu425Lys)	EDAR, RANBP2 (E425K)	Single nucleotide variant (missense variant)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +1 more	GUncertain significance
Select item 3381212	NM_022336.4(EDAR):c.1271T>G (p.Val424Gly)	EDAR, RANBP2 (V424G)	Single nucleotide variant (missense variant)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant	GLikely pathogenic
Select item 1019176	NM_022336.4(EDAR):c.1270G>A (p.Val424Met)	EDAR, RANBP2 (V424M)	Single nucleotide variant (missense variant)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +1 more	GUncertain significance
Select item 2495314	NM_022336.4(EDAR):c.1267G>A (p.Ala423Thr)	EDAR, RANBP2 (A423T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2941351	NM_022336.4(EDAR):c.1264G>T (p.Asp422Tyr)	EDAR, RANBP2 (D422Y)	Single nucleotide variant (missense variant)	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome +1 more	GUncertain significance
Select item 1388925	NM_022336.4(EDAR):c.1264G>A (p.Asp422Asn)	EDAR, RANBP2 (D422N)	Single nucleotide variant (missense variant)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +1 more	GUncertain significance
Select item 5853	NM_022336.4(EDAR):c.1259G>A (p.Arg420Gln)	EDAR, RANBP2 (R420Q)	Single nucleotide variant (missense variant)	Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive +3 more	GPathogenic/Likely pathogenic

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