"GeneDx"[submitter] AND "EDAR"[gene] - ClinVar

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Search results

Items: 62

	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 57544	GRCh38/hg38 2q12.3-13(chr2:108579001-109736559)x1	CCDC138, EDAR +51 more	Copy number loss	See cases	GPathogenic
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 3375829	NM_022336.4(EDAR):c.1295T>C (p.Leu432Pro)	EDAR, RANBP2 (L432P)	Single nucleotide variant (missense variant)	not provided	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 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
Select item 418175	NM_022336.4(EDAR):c.1229A>G (p.Glu410Gly)	EDAR, RANBP2 (E410G)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 463877	NM_022336.4(EDAR):c.1163T>C (p.Ile388Thr)	EDAR, RANBP2 (I388T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 194115	NM_022336.4(EDAR):c.1144G>A (p.Gly382Ser)	EDAR, RANBP2 (G382S)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
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 265115	NM_022336.4(EDAR):c.1121G>A (p.Trp374Ter)	RANBP2, EDAR (W374*)	Single nucleotide variant (nonsense)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +2 more	GPathogenic/Likely pathogenic
Select item 5858	NM_022336.4(EDAR):c.1109T>C (p.Val370Ala)	EDAR, RANBP2 (V370A)	Single nucleotide variant (missense variant)	Hypohidrotic Ectodermal Dysplasia, Dominant +6 more	GBenign
Select item 265471	NM_022336.4(EDAR):c.1073G>A (p.Arg358Gln)	EDAR, RANBP2 (R358Q)	Single nucleotide variant (missense variant)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +2 more	GPathogenic
Select item 5852	NM_022336.4(EDAR):c.1072C>T (p.Arg358Ter)	EDAR, RANBP2 (R358*)	Single nucleotide variant (nonsense)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +2 more	GPathogenic
Select item 155865	NM_022336.4(EDAR):c.1056C>T (p.Cys352=)	EDAR, RANBP2	Single nucleotide variant (synonymous variant)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +6 more	GBenign
Select item 3369521	NM_022336.4(EDAR):c.1044_1046del (p.Pro349del)	EDAR, RANBP2 (P349del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1241420	NM_022336.4(EDAR):c.1025-101T>A	EDAR, RANBP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230427	NM_022336.4(EDAR):c.1024+147T>C	EDAR, RANBP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273826	NM_022336.4(EDAR):c.1024+68C>A	EDAR, RANBP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 155864	NM_022336.4(EDAR):c.1024+44C>T	EDAR, RANBP2	Single nucleotide variant (intron variant)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +2 more	GBenign
Select item 155863	NM_022336.4(EDAR):c.1024+16del	EDAR, RANBP2	Deletion (intron variant)	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome +3 more	GBenign
Select item 1001812	NM_022336.4(EDAR):c.1006G>A (p.Val336Met)	EDAR, RANBP2 (V336M)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1267796	NM_022336.4(EDAR):c.964-214C>A	EDAR, RANBP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295838	NM_022336.4(EDAR):c.963+210del	EDAR, RANBP2	Deletion (intron variant)	not provided	GBenign
Select item 449014	NM_022336.4(EDAR):c.903C>A (p.Cys301Ter)	EDAR, RANBP2 (C301*)	Single nucleotide variant (nonsense)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +2 more	GPathogenic
Select item 419158	NM_022336.4(EDAR):c.883_889delinsTGATGAGGAGCCCG (p.Gln295_Ser297delinsTer)	EDAR, RANBP2	Indel (nonsense)	not provided	GPathogenic
Select item 261574	NM_022336.4(EDAR):c.870C>T (p.Pro290=)	EDAR, RANBP2	Single nucleotide variant (synonymous variant)	Hypohidrotic ectodermal dysplasia +6 more	GBenign/Likely benign
Select item 261573	NM_022336.4(EDAR):c.822C>A (p.Ser274=)	EDAR, RANBP2	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign/Likely benign
Select item 463882	NM_022336.4(EDAR):c.813T>C (p.Asp271=)	EDAR, RANBP2	Single nucleotide variant (synonymous variant)	Hypohidrotic ectodermal dysplasia +3 more	GBenign
Select item 1234024	NM_022336.4(EDAR):c.804-42C>A	RANBP2, EDAR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1255352	NM_022336.4(EDAR):c.804-102C>T	EDAR, RANBP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1174466	NM_022336.4(EDAR):c.804-214T>C	EDAR, RANBP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258122	NM_022336.4(EDAR):c.804-266A>C	EDAR, RANBP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 155870	NM_022336.4(EDAR):c.750C>T (p.Ser250=)	EDAR, RANBP2	Single nucleotide variant (synonymous variant)	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome +6 more	GBenign
Select item 155869	NM_022336.4(EDAR):c.731-99C>T	EDAR, RANBP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 463881	NM_022336.4(EDAR):c.723G>A (p.Glu241=)	EDAR, RANBP2	Single nucleotide variant (synonymous variant)	Hypohidrotic ectodermal dysplasia +5 more	GBenign/Likely benign
Select item 1230052	NM_022336.4(EDAR):c.656-37G>A	EDAR, RANBP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 155867	NM_022336.4(EDAR):c.655+30T>C	EDAR, RANBP2	Single nucleotide variant (intron variant)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +2 more	GBenign
Select item 330709	NM_022336.4(EDAR):c.607G>A (p.Val203Ile)	EDAR, RANBP2 (V203I)	Single nucleotide variant (missense variant)	Hypohidrotic ectodermal dysplasia +5 more	GUncertain significance
Select item 265114	NM_022336.4(EDAR):c.463G>A (p.Ala155Thr)	EDAR, RANBP2 (A155T)	Single nucleotide variant (missense variant)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +4 more	GConflicting classifications of pathogenicity
Select item 1295784	NM_022336.4(EDAR):c.443-199dup	EDAR, RANBP2	Duplication (intron variant)	not provided	GBenign
Select item 1183466	NM_022336.4(EDAR):c.442+171T>C	EDAR, RANBP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263507	NM_022336.4(EDAR):c.442+170A>G	EDAR, RANBP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231383	NM_022336.4(EDAR):c.442+50C>T	EDAR, RANBP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 431815	NM_022336.4(EDAR):c.442+1G>A	EDAR, RANBP2	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 179358	NM_022336.4(EDAR):c.357-4G>A	EDAR, RANBP2	Single nucleotide variant (intron variant)	not specified +5 more	GBenign/Likely benign
Select item 1231491	NM_022336.4(EDAR):c.357-127G>C	EDAR, RANBP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 641915	NM_022336.4(EDAR):c.328G>A (p.Asp110Asn)	EDAR, RANBP2 (D110N)	Single nucleotide variant (missense variant)	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive +2 more	GUncertain significance
Select item 261572	NM_022336.4(EDAR):c.319A>G (p.Met107Val)	EDAR, RANBP2 (M107V)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 265113	NM_022336.4(EDAR):c.212G>A (p.Cys71Tyr)	EDAR, RANBP2 (C71Y)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1236425	NM_022336.4(EDAR):c.175-133C>G	EDAR, RANBP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228538	NM_022336.4(EDAR):c.175-237G>A	EDAR, RANBP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273453	NM_022336.4(EDAR):c.175-238C>G	EDAR, RANBP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268780	NM_022336.4(EDAR):c.174+48T>C	EDAR, RANBP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180876	NM_022336.4(EDAR):c.174+21G>T	EDAR, RANBP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241573	NM_022336.4(EDAR):c.52-135C>T	EDAR, RANBP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 463880	NM_022336.4(EDAR):c.43G>A (p.Val15Ile)	EDAR, RANBP2 (V15I)	Single nucleotide variant (missense variant)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +2 more	GConflicting classifications of pathogenicity
Select item 1177673	NM_022336.4(EDAR):c.-18-109C>T	EDAR, RANBP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 330721	NM_022336.3(EDAR):c.-370C>T	EDAR, RANBP2	Single nucleotide variant (genic downstream transcript variant)	Hypohidrotic Ectodermal Dysplasia, Dominant +1 more	GBenign
Select item 253673	GRCh37/hg19 2q12.2-14.1(chr2:106423310-115054828)x1	BUB1, PSD4 +53 more	Copy number loss	See cases	GPathogenic
Select item 253541	GRCh37/hg19 2q12.3-14.1(chr2:109556627-117570152)x1	TMEM87B, IL37 +40 more	Copy number loss	See cases	GPathogenic

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Items: 62