"Ambry Genetics"[submitter] AND "EDAR"[gene] - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 986278	NM_022336.4(EDAR):c.1007T>A (p.Val336Glu)	EDAR, RANBP2 (V336E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 522143	NM_022336.4(EDAR):c.985A>T (p.Ile329Phe)	EDAR, RANBP2 (I329F)	Single nucleotide variant (missense variant)	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome +2 more	GConflicting classifications of pathogenicity
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 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 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 862820	NM_022336.4(EDAR):c.802A>T (p.Ser268Cys)	EDAR, RANBP2 (S268C)	Single nucleotide variant (missense variant)	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome +3 more	GUncertain significance
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 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 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 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 439636	NM_022336.4(EDAR):c.481G>A (p.Gly161Ser)	EDAR, RANBP2 (G161S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
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 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 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 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 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 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 1055751	NM_022336.4(EDAR):c.167C>G (p.Pro56Arg)	EDAR, RANBP2 (P56R)	Single nucleotide variant (missense variant)	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome +2 more	GUncertain significance
Select item 330711	NM_022336.4(EDAR):c.146C>T (p.Pro49Leu)	EDAR, RANBP2 (P49L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 658733	NM_022336.4(EDAR):c.122C>A (p.Thr41Lys)	EDAR, RANBP2 (T41K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	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 1049661	NM_022336.4(EDAR):c.94G>A (p.Gly32Ser)	EDAR, RANBP2 (G32S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 985204	NM_022336.4(EDAR):c.77C>T (p.Ala26Val)	EDAR, RANBP2 (A26V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GPathogenic
Select item 330712	NM_022336.4(EDAR):c.68C>T (p.Ser23Leu)	EDAR, RANBP2 (S23L)	Single nucleotide variant (missense variant)	Hypohidrotic Ectodermal Dysplasia, Dominant +4 more	GConflicting classifications of pathogenicity
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

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Items: 31