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

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 21

	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 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 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)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +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)	Inborn genetic diseases +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)	RANBP2, EDAR (E269D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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)	RANBP2, EDAR (S169F)	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 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 2393305	NM_022336.4(EDAR):c.199G>A (p.Glu67Lys)	RANBP2, EDAR (E67K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2303688	NM_022336.4(EDAR):c.179G>A (p.Cys60Tyr)	RANBP2, EDAR (C60Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 330711	NM_022336.4(EDAR):c.146C>T (p.Pro49Leu)	EDAR, RANBP2 (P49L)	Single nucleotide variant (missense variant)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +4 more	GConflicting classifications of pathogenicity
Select item 658733	NM_022336.4(EDAR):c.122C>A (p.Thr41Lys)	RANBP2, EDAR (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)	RANBP2, EDAR (E35K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +5 more	GConflicting classifications of pathogenicity
Select item 2206654	NM_022336.4(EDAR):c.10G>C (p.Val4Leu)	RANBP2, EDAR (V4L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 21