"PreventionGenetics, part of Exact Sciences"[submitter] AND "EDAR"[gen - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3039813	NM_022336.4(EDAR):c.1338T>A (p.Ala446=)	EDAR, RANBP2	Single nucleotide variant (synonymous variant)	EDAR-related condition	GLikely benign
Select item 3057657	NM_022336.4(EDAR):c.1294C>T (p.Leu432=)	EDAR, RANBP2	Single nucleotide variant (synonymous variant)	EDAR-related condition	GLikely benign
Select item 261571	NM_022336.4(EDAR):c.1138A>C (p.Ser380Arg)	EDAR, RANBP2 (S380R)	Single nucleotide variant (missense variant)	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome +3 more	GBenign
Select item 5858	NM_022336.4(EDAR):c.1109T>C (p.Val370Ala)	EDAR, RANBP2 (V370A)	Single nucleotide variant (missense variant)	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome +6 more	GBenign
Select item 155865	NM_022336.4(EDAR):c.1056C>T (p.Cys352=)	EDAR, RANBP2	Single nucleotide variant (synonymous variant)	not specified +6 more	GBenign
Select item 155863	NM_022336.4(EDAR):c.1024+16del	RANBP2, EDAR	Deletion (intron variant)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +3 more	GBenign
Select item 261574	NM_022336.4(EDAR):c.870C>T (p.Pro290=)	EDAR, RANBP2	Single nucleotide variant (synonymous variant)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +6 more	GBenign/Likely benign
Select item 261573	NM_022336.4(EDAR):c.822C>A (p.Ser274=)	EDAR, RANBP2	Single nucleotide variant (synonymous variant)	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome +5 more	GBenign/Likely benign
Select item 155870	NM_022336.4(EDAR):c.750C>T (p.Ser250=)	EDAR, RANBP2	Single nucleotide variant (synonymous variant)	Hypohidrotic ectodermal dysplasia +6 more	GBenign
Select item 893106	NM_022336.4(EDAR):c.731-4G>T	EDAR, RANBP2	Single nucleotide variant (intron variant)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +3 more	GLikely benign
Select item 3045385	NM_022336.4(EDAR):c.381G>A (p.Pro127=)	EDAR, RANBP2	Single nucleotide variant (synonymous variant)	EDAR-related condition	GLikely benign
Select item 179358	NM_022336.4(EDAR):c.357-4G>A	RANBP2, EDAR	Single nucleotide variant (intron variant)	Hypohidrotic ectodermal dysplasia +5 more	GBenign/Likely benign
Select item 261572	NM_022336.4(EDAR):c.319A>G (p.Met107Val)	EDAR, RANBP2 (M107V)	Single nucleotide variant (missense variant)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +4 more	GBenign/Likely benign
Select item 702817	NM_022336.4(EDAR):c.243A>G (p.Lys81=)	EDAR, RANBP2	Single nucleotide variant (synonymous variant)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +4 more	GBenign/Likely benign
Select item 3029666	NM_022336.4(EDAR):c.129G>A (p.Leu43=)	EDAR, RANBP2	Single nucleotide variant (synonymous variant)	EDAR-related condition	GLikely benign
Select item 330712	NM_022336.4(EDAR):c.68C>T (p.Ser23Leu)	EDAR, RANBP2 (S23L)	Single nucleotide variant (missense variant)	Hypohidrotic Ectodermal Dysplasia, Dominant +5 more	GConflicting classifications of pathogenicity