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Links from Gene

Items: 1 to 100 of 323

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EDAR, RANBP2
(P349del)
Deletion
(inframe_deletion)
not provided
GUncertain significance
EDAR
(G53E)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
GLikely pathogenic
EDAR, RANBP2
Deletion
(intron variant)
EDAR-related disorder
GUncertain significance
EDAR, RANBP2
(C116R)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
EDAR, RANBP2
(A99T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
EDAR, RANBP2
(V72I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
EDAR, RANBP2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
EDAR, RANBP2
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
EDAR
Deletion
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
+1 more
GPathogenic
EDAR, RANBP2
(T259S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
EDAR, RANBP2
(D399A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
EDAR, RANBP2
(V371A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
EDAR, RANBP2
(G182fs)
Deletion
(frameshift variant)
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
GLikely pathogenic
EDAR, RANBP2
Single nucleotide variant
(synonymous variant)
EDAR-related disorder
GLikely benign
EDAR, RANBP2
Single nucleotide variant
(synonymous variant)
EDAR-related disorder
GLikely benign
EDAR, RANBP2
Single nucleotide variant
(synonymous variant)
EDAR-related disorder
GLikely benign
EDAR, RANBP2
Single nucleotide variant
(synonymous variant)
EDAR-related disorder
GLikely benign
EDAR, RANBP2
(Y406*)
Single nucleotide variant
(nonsense)
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
+1 more
GPathogenic
EDAR, RANBP2
(E311fs)
Deletion
(frameshift variant)
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
+1 more
GPathogenic
EDAR, RANBP2
Single nucleotide variant
(intron variant)
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
+1 more
GUncertain significance
EDAR, RANBP2
(L427S)
Single nucleotide variant
(missense variant)
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
+1 more
GPathogenic
EDAR, RANBP2
(R400P)
Single nucleotide variant
(missense variant)
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
+1 more
GUncertain significance
EDAR, RANBP2
Single nucleotide variant
(splice donor variant)
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
+1 more
GPathogenic
EDAR, RANBP2
(P52L)
Single nucleotide variant
(missense variant)
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
+1 more
GUncertain significance
EDAR, RANBP2
(V340M)
Single nucleotide variant
(missense variant)
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
+1 more
GUncertain significance
EDAR, RANBP2
(E379K)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
+2 more
GConflicting classifications of pathogenicity
EDAR, RANBP2
Deletion
(inframe_deletion)
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
+1 more
GUncertain significance
EDAR, RANBP2
(P215fs)
Duplication
(frameshift variant)
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
+1 more
GPathogenic
EDAR, RANBP2
Single nucleotide variant
(intron variant)
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
+1 more
GBenign
EDAR, RANBP2
(S407fs)
Deletion
(frameshift variant)
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
+1 more
GPathogenic
EDAR, RANBP2
(D422Y)
Single nucleotide variant
(missense variant)
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
+1 more
GUncertain significance
EDAR, RANBP2
(M133L)
Single nucleotide variant
(missense variant)
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
+1 more
GUncertain significance
EDAR, RANBP2
Single nucleotide variant
(synonymous variant)
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
+1 more
GLikely benign
EDAR, RANBP2
Single nucleotide variant
(synonymous variant)
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
+1 more
GLikely benign
EDAR, RANBP2
(P298R)
Single nucleotide variant
(missense variant)
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
+1 more
GUncertain significance
EDAR, RANBP2
Single nucleotide variant
(synonymous variant)
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
+1 more
GLikely benign
EDAR, RANBP2
Single nucleotide variant
(intron variant)
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
+1 more
GLikely benign
EDAR, RANBP2
Single nucleotide variant
(synonymous variant)
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
+1 more
GLikely benign
EDAR, RANBP2
Single nucleotide variant
(intron variant)
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
+1 more
GLikely benign
EDAR, RANBP2
(S304L)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
+1 more
GUncertain significance
EDAR, RANBP2
(V416M)
Single nucleotide variant
(missense variant)
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
+1 more
GUncertain significance
EDAR, RANBP2
Single nucleotide variant
(intron variant)
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
+1 more
GLikely benign
EDAR, RANBP2
(G321R)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
+1 more
GUncertain significance
EDAR, RANBP2
(P49R)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
+1 more
GUncertain significance
EDAR, RANBP2
Single nucleotide variant
(synonymous variant)
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
+1 more
GLikely benign
EDAR, RANBP2
(S402N)
Single nucleotide variant
(missense variant)
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
+1 more
GLikely pathogenic
EDAR, RANBP2
Single nucleotide variant
(synonymous variant)
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
+1 more
GLikely benign
EDAR, RANBP2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
EDAR, RANBP2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
EDAR, RANBP2
(I401T)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
EDAR, RANBP2
(A260V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
EDAR, RANBP2
(A423T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
EDAR, RANBP2
(M107I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
EDAR, RANBP2
(L353F)
Single nucleotide variant
(missense variant)
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
+2 more
GUncertain significance
EDAR, RANBP2
(Y136*)
Single nucleotide variant
(nonsense)
not provided
GLikely pathogenic
EDAR, RANBP2
(E67K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
EDAR, RANBP2
(P118S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
EDAR, RANBP2
(S169F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
EDAR, RANBP2
(R282Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
EDAR, RANBP2
(V437F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
EDAR, RANBP2
(C60Y)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
EDAR, RANBP2
(E269D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
EDAR, RANBP2
(E35K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
EDAR, RANBP2
(G389R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
EDAR, RANBP2
(V4L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
EDAR, RANBP2
(R25*)
Single nucleotide variant
(nonsense)
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
+1 more
GPathogenic
EDAR, RANBP2
(V284I)
Single nucleotide variant
(missense variant)
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
+2 more
GConflicting classifications of pathogenicity
EDAR, RANBP2
Deletion
(intron variant)
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
+1 more
GUncertain significance
EDAR, RANBP2
Duplication
(intron variant)
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
+1 more
GBenign
EDAR, RANBP2
(R98Q)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
+1 more
GPathogenic
EDAR, RANBP2
(E433*)
Single nucleotide variant
(nonsense)
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
+1 more
GPathogenic
EDAR, RANBP2
(A369P)
Single nucleotide variant
(missense variant)
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
+1 more
GBenign
EDAR, RANBP2
(T403R)
Single nucleotide variant
(missense variant)
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
+1 more
GLikely pathogenic
EDAR, RANBP2
(C31W)
Single nucleotide variant
(missense variant)
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
+1 more
GUncertain significance
EDAR, RANBP2
(C87G)
Single nucleotide variant
(missense variant)
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
+1 more
GUncertain significance
EDAR, RANBP2
(L383P)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
+1 more
GUncertain significance
EDAR, RANBP2
Insertion
(inframe_insertion)
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
+1 more
GUncertain significance
EDAR, RANBP2
(S286T)
Single nucleotide variant
(missense variant)
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
+1 more
GUncertain significance
EDAR, RANBP2
Single nucleotide variant
(intron variant)
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
+1 more
GLikely benign
EDAR, RANBP2
(I431T)
Single nucleotide variant
(missense variant)
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
+1 more
GPathogenic
EDAR, RANBP2
(L427W)
Single nucleotide variant
(missense variant)
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
+1 more
GUncertain significance
EDAR, RANBP2
(C428R)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
EDAR, RANBP2
(A378V)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
GUncertain significance
EDAR, RANBP2
Single nucleotide variant
(synonymous variant)
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
+1 more
GLikely benign
EDAR, RANBP2
(I190T)
Single nucleotide variant
(missense variant)
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
+1 more
GUncertain significance
EDAR, RANBP2
(A334T)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
+1 more
GUncertain significance
EDAR, RANBP2
(I431M)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
+1 more
GLikely pathogenic
EDAR, RANBP2
Microsatellite
(nonsense)
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
+1 more
GPathogenic
EDAR, RANBP2
(E425K)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
+1 more
GUncertain significance
EDAR, RANBP2
(D386fs)
Microsatellite
(frameshift variant)
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
+1 more
GPathogenic
EDAR, RANBP2
(C47W)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
EDAR, RANBP2
(D422N)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
+1 more
GUncertain significance
EDAR, RANBP2
(N276D)
Single nucleotide variant
(missense variant)
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
+1 more
GUncertain significance
EDAR, RANBP2
(N365S)
Single nucleotide variant
(missense variant)
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
+1 more
GUncertain significance
EDAR, RANBP2
(L43fs)
Deletion
(frameshift variant)
not provided
GLikely pathogenic
EDAR, RANBP2
(N335fs)
Deletion
(frameshift variant)
not provided
GPathogenic
EDAR, RANBP2
Single nucleotide variant
(splice donor variant)
not provided
GLikely pathogenic
EDAR, RANBP2
Deletion
(intron variant)
not provided
GBenign
EDAR, RANBP2
Duplication
(intron variant)
not provided
GBenign
EDAR, RANBP2
Single nucleotide variant
(intron variant)
not provided
GBenign
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