ClinVar for Gene (Select 10913) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3369521	NM_022336.4(EDAR):c.1044_1046del (p.Pro349del)	EDAR, RANBP2 (P349del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 3362369	NM_022336.4(EDAR):c.158G>A (p.Gly53Glu)	EDAR (G53E)	Single nucleotide variant (missense variant)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant	GLikely pathogenic
Select item 3350308	NM_022336.4(EDAR):c.964-7_964-6del	EDAR, RANBP2	Deletion (intron variant)	EDAR-related disorder	GUncertain significance
Select item 3341133	NM_022336.4(EDAR):c.346T>C (p.Cys116Arg)	EDAR, RANBP2 (C116R)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 3274469	NM_022336.4(EDAR):c.295G>A (p.Ala99Thr)	EDAR, RANBP2 (A99T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3274467	NM_022336.4(EDAR):c.214G>A (p.Val72Ile)	EDAR, RANBP2 (V72I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3250747	NM_022336.4(EDAR):c.42C>T (p.Pro14=)	EDAR, RANBP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3250522	NM_022336.4(EDAR):c.483C>T (p.Gly161=)	EDAR, RANBP2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3247345	NC_000002.11:g.(?_109368307)_(109579739_?)del	CCDC138, EDAR +1 more	Deletion	Familial acute necrotizing encephalopathy	GUncertain significance
Select item 3247228	NC_000002.11:g.(?_109513363)_(109524495_?)del	EDAR	Deletion	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +1 more	GPathogenic
Select item 3087123	NM_022336.4(EDAR):c.775A>T (p.Thr259Ser)	EDAR, RANBP2 (T259S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3087122	NM_022336.4(EDAR):c.1196A>C (p.Asp399Ala)	EDAR, RANBP2 (D399A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3087121	NM_022336.4(EDAR):c.1112T>C (p.Val371Ala)	EDAR, RANBP2 (V371A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3065509	NM_022336.4(EDAR):c.545del (p.Gly182fs)	EDAR, RANBP2 (G182fs)	Deletion (frameshift variant)	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive	GLikely pathogenic
Select item 3062653	GRCh37/hg19 2q12.2-12.3(chr2:107468050-109530903)x1	CCDC138, EDAR +9 more	Copy number loss	not specified	GUncertain significance
Select item 3062651	GRCh37/hg19 2q12.2-21.2(chr2:106755586-134302739)x1	ACOXL, ACTR3 +121 more	Copy number loss	not specified	GPathogenic
Select item 3062558	GRCh37/hg19 2q12.2-13(chr2:107032426-113111856)x1	ACOXL, ANAPC1 +27 more	Copy number loss	not specified	GPathogenic
Select item 3062469	GRCh37/hg19 2q12.3-13(chr2:108526025-110504319)x3	CCDC138, EDAR +9 more	Copy number gain	not specified	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 3045385	NM_022336.4(EDAR):c.381G>A (p.Pro127=)	EDAR, RANBP2	Single nucleotide variant (synonymous variant)	EDAR-related disorder	GLikely benign
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 3029666	NM_022336.4(EDAR):c.129G>A (p.Leu43=)	EDAR, RANBP2	Single nucleotide variant (synonymous variant)	EDAR-related disorder	GLikely benign
Select item 2952572	NM_022336.4(EDAR):c.1218C>G (p.Tyr406Ter)	EDAR, RANBP2 (Y406*)	Single nucleotide variant (nonsense)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +1 more	GPathogenic
Select item 2952436	NM_022336.4(EDAR):c.931del (p.Glu311fs)	EDAR, RANBP2 (E311fs)	Deletion (frameshift variant)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +1 more	GPathogenic
Select item 2951719	NM_022336.4(EDAR):c.731-20A>G	EDAR, RANBP2	Single nucleotide variant (intron variant)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +1 more	GUncertain significance
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 2949319	NM_022336.4(EDAR):c.1199G>C (p.Arg400Pro)	EDAR, RANBP2 (R400P)	Single nucleotide variant (missense variant)	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome +1 more	GUncertain significance
Select item 2948715	NM_022336.4(EDAR):c.1024+2T>C	EDAR, RANBP2	Single nucleotide variant (splice donor variant)	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome +1 more	GPathogenic
Select item 2948339	NM_022336.4(EDAR):c.155C>T (p.Pro52Leu)	EDAR, RANBP2 (P52L)	Single nucleotide variant (missense variant)	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome +1 more	GUncertain significance
Select item 2948164	NM_022336.4(EDAR):c.1018G>A (p.Val340Met)	EDAR, RANBP2 (V340M)	Single nucleotide variant (missense variant)	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome +1 more	GUncertain significance
Select item 2947943	NM_022336.4(EDAR):c.1135G>A (p.Glu379Lys)	EDAR, RANBP2 (E379K)	Single nucleotide variant (missense variant)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +2 more	GConflicting classifications of pathogenicity
Select item 2947031	NM_022336.4(EDAR):c.1174_1185del (p.Thr392_Met395del)	EDAR, RANBP2	Deletion (inframe_deletion)	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome +1 more	GUncertain significance
Select item 2946816	NM_022336.4(EDAR):c.641dup (p.Pro215fs)	EDAR, RANBP2 (P215fs)	Duplication (frameshift variant)	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome +1 more	GPathogenic
Select item 2946461	NM_022336.4(EDAR):c.357-18C>G	EDAR, RANBP2	Single nucleotide variant (intron variant)	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome +1 more	GBenign
Select item 2944544	NM_022336.4(EDAR):c.1221del (p.Ser407fs)	EDAR, RANBP2 (S407fs)	Deletion (frameshift variant)	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome +1 more	GPathogenic
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 2938400	NM_022336.4(EDAR):c.397A>C (p.Met133Leu)	EDAR, RANBP2 (M133L)	Single nucleotide variant (missense variant)	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome +1 more	GUncertain significance
Select item 2937813	NM_022336.4(EDAR):c.913C>T (p.Leu305=)	EDAR, RANBP2	Single nucleotide variant (synonymous variant)	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome +1 more	GLikely benign
Select item 2937812	NM_022336.4(EDAR):c.922C>T (p.Leu308=)	EDAR, RANBP2	Single nucleotide variant (synonymous variant)	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome +1 more	GLikely benign
Select item 2937739	NM_022336.4(EDAR):c.893C>G (p.Pro298Arg)	EDAR, RANBP2 (P298R)	Single nucleotide variant (missense variant)	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome +1 more	GUncertain significance
Select item 2936968	NM_022336.4(EDAR):c.102C>T (p.Asn34=)	EDAR, RANBP2	Single nucleotide variant (synonymous variant)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +1 more	GLikely benign
Select item 2936051	NM_022336.4(EDAR):c.964-16C>T	EDAR, RANBP2	Single nucleotide variant (intron variant)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +1 more	GLikely benign
Select item 2934038	NM_022336.4(EDAR):c.219C>G (p.Pro73=)	EDAR, RANBP2	Single nucleotide variant (synonymous variant)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +1 more	GLikely benign
Select item 2932792	NM_022336.4(EDAR):c.656-16C>A	EDAR, RANBP2	Single nucleotide variant (intron variant)	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome +1 more	GLikely benign
Select item 2928587	NM_022336.4(EDAR):c.911C>T (p.Ser304Leu)	EDAR, RANBP2 (S304L)	Single nucleotide variant (missense variant)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +1 more	GUncertain significance
Select item 2927109	NM_022336.4(EDAR):c.1246G>A (p.Val416Met)	EDAR, RANBP2 (V416M)	Single nucleotide variant (missense variant)	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome +1 more	GUncertain significance
Select item 2924833	NM_022336.4(EDAR):c.1025-14A>G	EDAR, RANBP2	Single nucleotide variant (intron variant)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +1 more	GLikely benign
Select item 2924829	NM_022336.4(EDAR):c.961G>A (p.Gly321Arg)	EDAR, RANBP2 (G321R)	Single nucleotide variant (missense variant)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +1 more	GUncertain significance
Select item 2923765	NM_022336.4(EDAR):c.146C>G (p.Pro49Arg)	EDAR, RANBP2 (P49R)	Single nucleotide variant (missense variant)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +1 more	GUncertain significance
Select item 2922788	NM_022336.4(EDAR):c.78G>A (p.Ala26=)	EDAR, RANBP2	Single nucleotide variant (synonymous variant)	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome +1 more	GLikely benign
Select item 2922761	NM_022336.4(EDAR):c.1205G>A (p.Ser402Asn)	EDAR, RANBP2 (S402N)	Single nucleotide variant (missense variant)	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome +1 more	GLikely pathogenic
Select item 2921735	NM_022336.4(EDAR):c.1128C>T (p.His376=)	EDAR, RANBP2	Single nucleotide variant (synonymous variant)	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome +1 more	GLikely benign
Select item 2685861	GRCh37/hg19 2q12.3-13(chr2:108534031-111365996)x3	CCDC138, EDAR +15 more	Copy number gain	not provided	GUncertain significance
Select item 2684653	GRCh37/hg19 2q12.3-13(chr2:109128791-110504318)x1	CCDC138, EDAR +4 more	Copy number loss	not provided	GUncertain significance
Select item 2684642	GRCh37/hg19 2q12.2-13(chr2:107029681-113127751)x1	ACOXL, ANAPC1 +28 more	Copy number loss	not provided	GPathogenic
Select item 2651259	NM_022336.4(EDAR):c.330C>T (p.Asp110=)	EDAR, RANBP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2651258	NM_022336.4(EDAR):c.852C>T (p.Val284=)	EDAR, RANBP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2651257	NM_022336.4(EDAR):c.1202T>C (p.Ile401Thr)	EDAR, RANBP2 (I401T)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2539818	NM_022336.4(EDAR):c.779C>T (p.Ala260Val)	EDAR, RANBP2 (A260V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2482502	NM_022336.4(EDAR):c.321G>A (p.Met107Ile)	EDAR, RANBP2 (M107I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2442005	NM_022336.4(EDAR):c.1057C>T (p.Leu353Phe)	EDAR, RANBP2 (L353F)	Single nucleotide variant (missense variant)	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome +2 more	GUncertain significance
Select item 2440022	NM_022336.4(EDAR):c.408C>A (p.Tyr136Ter)	EDAR, RANBP2 (Y136*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2426740	NC_000002.11:g.(?_108604612)_(109579739_?)del	CCDC138, EDAR +7 more	Deletion	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +2 more	GConflicting classifications of pathogenicity
Select item 2425553	NC_000002.11:g.(?_109368307)_(109579739_?)dup	CCDC138, EDAR +1 more	Duplication	Familial acute necrotizing encephalopathy	GUncertain significance
Select item 2425552	NC_000002.11:g.(?_108604612)_(109579739_?)dup	CCDC138, EDAR +7 more	Duplication	Familial acute necrotizing encephalopathy	GUncertain significance
Select item 2393305	NM_022336.4(EDAR):c.199G>A (p.Glu67Lys)	EDAR, RANBP2 (E67K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2372236	NM_022336.4(EDAR):c.352C>T (p.Pro118Ser)	EDAR, RANBP2 (P118S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2355992	NM_022336.4(EDAR):c.506C>T (p.Ser169Phe)	EDAR, RANBP2 (S169F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2351214	NM_022336.4(EDAR):c.845G>A (p.Arg282Gln)	EDAR, RANBP2 (R282Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2303688	NM_022336.4(EDAR):c.179G>A (p.Cys60Tyr)	EDAR, RANBP2 (C60Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2287659	NM_022336.4(EDAR):c.807G>C (p.Glu269Asp)	EDAR, RANBP2 (E269D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2283749	NM_022336.4(EDAR):c.103G>A (p.Glu35Lys)	EDAR, RANBP2 (E35K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2240193	NM_022336.4(EDAR):c.1165G>A (p.Gly389Arg)	EDAR, RANBP2 (G389R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2206654	NM_022336.4(EDAR):c.10G>C (p.Val4Leu)	EDAR, RANBP2 (V4L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2203127	NM_022336.4(EDAR):c.73C>T (p.Arg25Ter)	EDAR, RANBP2 (R25*)	Single nucleotide variant (nonsense)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +1 more	GPathogenic
Select item 2194381	NM_022336.4(EDAR):c.850G>A (p.Val284Ile)	EDAR, RANBP2 (V284I)	Single nucleotide variant (missense variant)	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2120011	NM_022336.4(EDAR):c.442+5del	EDAR, RANBP2	Deletion (intron variant)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +1 more	GUncertain significance
Select item 2083388	NM_022336.4(EDAR):c.1024+16dup	EDAR, RANBP2	Duplication (intron variant)	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome +1 more	GBenign
Select item 2075534	NM_022336.4(EDAR):c.293G>A (p.Arg98Gln)	EDAR, RANBP2 (R98Q)	Single nucleotide variant (missense variant)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +1 more	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 2050192	NM_022336.4(EDAR):c.1105G>C (p.Ala369Pro)	EDAR, RANBP2 (A369P)	Single nucleotide variant (missense variant)	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome +1 more	GBenign
Select item 2021435	NM_022336.4(EDAR):c.1208C>G (p.Thr403Arg)	EDAR, RANBP2 (T403R)	Single nucleotide variant (missense variant)	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome +1 more	GLikely pathogenic
Select item 2015099	NM_022336.4(EDAR):c.93C>G (p.Cys31Trp)	EDAR, RANBP2 (C31W)	Single nucleotide variant (missense variant)	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome +1 more	GUncertain significance
Select item 2013774	NM_022336.4(EDAR):c.259T>G (p.Cys87Gly)	EDAR, RANBP2 (C87G)	Single nucleotide variant (missense variant)	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome +1 more	GUncertain significance
Select item 2012787	NM_022336.4(EDAR):c.1148T>C (p.Leu383Pro)	EDAR, RANBP2 (L383P)	Single nucleotide variant (missense variant)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +1 more	GUncertain significance
Select item 2011838	NM_022336.4(EDAR):c.202_203insGCTACGGCACCAAAGACGAAG (p.Glu67_Asp68insGlyTyrGlyThrLysAspGlu)	EDAR, RANBP2	Insertion (inframe_insertion)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +1 more	GUncertain significance
Select item 1984049	NM_022336.4(EDAR):c.857G>C (p.Ser286Thr)	EDAR, RANBP2 (S286T)	Single nucleotide variant (missense variant)	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome +1 more	GUncertain significance
Select item 1924735	NM_022336.4(EDAR):c.804-17C>T	EDAR, RANBP2	Single nucleotide variant (intron variant)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +1 more	GLikely benign
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 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 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 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1705945	GRCh37/hg19 2q12.3-13(chr2:109157562-110497991)x1	SOWAHC, CCDC138 +4 more	Copy number loss	Autism	GPathogenic
Select item 1704648	GRCh37/hg19 2q12.3-13(chr2:108446955-110504318)x3	CCDC138, EDAR +10 more	Copy number gain	MISSED ABORTION	GUncertain significance
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1702963	NM_022336.4(EDAR):c.1133C>T (p.Ala378Val)	EDAR, RANBP2 (A378V)	Single nucleotide variant (missense variant)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant	GUncertain significance
Select item 1594097	NM_022336.4(EDAR):c.708C>T (p.Asp236=)	EDAR, RANBP2	Single nucleotide variant (synonymous variant)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +1 more	GLikely benign
Select item 1526886	GRCh37/hg19 2q12.3-13(chr2:108446955-110504318)	CCDC138, EDAR +10 more	Copy number loss	not specified	GPathogenic

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