"Genomic Research Center, Shahid Beheshti University of Medical Scienc - ClinVar - NCBI

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

Search results

Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 8363	NM_006267.5(RANBP2):c.1754C>T (p.Thr585Met)	RANBP2 (T585M)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 155862	NM_022336.4(EDAR):c.*42G>T	EDAR, RANBP2	Single nucleotide variant (3 prime UTR variant)	Hypohidrotic ectodermal dysplasia +4 more	GBenign
Select item 5853	NM_022336.4(EDAR):c.1259G>A (p.Arg420Gln)	EDAR, RANBP2 (R420Q)	Single nucleotide variant (missense variant)	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome +3 more	GPathogenic/Likely pathogenic
Select item 155865	NM_022336.4(EDAR):c.1056C>T (p.Cys352=)	RANBP2, EDAR	Single nucleotide variant (synonymous variant)	Hypohidrotic Ectodermal Dysplasia, Dominant +6 more	GBenign
Select item 155864	NM_022336.4(EDAR):c.1024+44C>T	RANBP2, EDAR	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	RANBP2, EDAR	Deletion (intron variant)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +3 more	GBenign
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 155868	NM_022336.4(EDAR):c.731-62T>C	EDAR, RANBP2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 155869	NM_022336.4(EDAR):c.731-99C>T	RANBP2, EDAR	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 522911	NM_022336.4(EDAR):c.278G>C (p.Cys93Ser)	EDAR, RANBP2 (C93S)	Single nucleotide variant (missense variant)	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive	GPathogenic
Select item 155866	NM_022336.4(EDAR):c.207C>T (p.Tyr69=)	RANBP2, EDAR	Single nucleotide variant (synonymous variant)	Hypohidrotic ectodermal dysplasia +3 more	GBenign/Likely benign