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Items: 1 to 100 of 126

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CCDC138, EDAR
+7 more
Deletion
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
+1 more
GPathogenic
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
RANBP2, EDAR
Duplication
(intron variant)
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
+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)
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
+1 more
GPathogenic
RANBP2, EDAR
(A369P)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
+1 more
GUncertain significance
EDAR, RANBP2
(T403R)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
+1 more
GLikely pathogenic
RANBP2, EDAR
(C31W)
Single nucleotide variant
(missense variant)
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
+1 more
GUncertain significance
EDAR, RANBP2
(C87G)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
+1 more
GUncertain significance
RANBP2, EDAR
(L383P)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
+1 more
GUncertain significance
RANBP2, EDAR
Insertion
(inframe_insertion)
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
+1 more
GUncertain significance
RANBP2, EDAR
(S286T)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
+1 more
GUncertain significance
RANBP2, EDAR
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)
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
+1 more
GUncertain significance
EDAR, RANBP2
(L427W)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
+1 more
GUncertain significance
EDAR, RANBP2
(C428R)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
+1 more
GUncertain significance
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)
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
+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)
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
+1 more
GUncertain significance
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)
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
+1 more
GPathogenic
EDAR, RANBP2
(C47W)
Single nucleotide variant
(missense variant)
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
+1 more
GUncertain significance
RANBP2, EDAR
(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)
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
+1 more
GUncertain significance
EDAR, RANBP2
(N365S)
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)
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
+1 more
GBenign
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
(splice acceptor variant)
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
+1 more
GPathogenic
EDAR, RANBP2
(P56R)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
+1 more
GUncertain significance
EDAR, RANBP2
(G32S)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
+1 more
GUncertain significance
EDAR, RANBP2
(I329S)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
+1 more
GLikely pathogenic
EDAR, RANBP2
(G405R)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
+1 more
GLikely pathogenic
EDAR, RANBP2
(V424M)
Single nucleotide variant
(missense variant)
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
+1 more
GUncertain significance
EDAR, RANBP2
(V336M)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
EDAR, RANBP2
(D331N)
Single nucleotide variant
(missense variant)
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
+1 more
GUncertain significance
EDAR, RANBP2
(F96S)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
GLikely pathogenic
EDAR, RANBP2
(D386N)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
+1 more
GUncertain significance
EDAR, RANBP2
(K327*)
Single nucleotide variant
(nonsense)
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
+1 more
GPathogenic
EDAR, RANBP2
(T403M)
Single nucleotide variant
(missense variant)
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
+1 more
GPathogenic
EDAR, RANBP2
(A24D)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
+1 more
GUncertain significance
EDAR, RANBP2
(G405D)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
+1 more
GPathogenic
EDAR, RANBP2
Single nucleotide variant
(intron variant)
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
+1 more
GUncertain significance
EDAR, RANBP2
Single nucleotide variant
(intron variant)
Hypohidrotic ectodermal dysplasia
+2 more
GLikely benign
EDAR, RANBP2
(S268C)
Single nucleotide variant
(missense variant)
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
+2 more
GUncertain significance
EDAR, RANBP2
(G390fs)
Deletion
(frameshift variant)
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
+1 more
GPathogenic
EDAR, RANBP2
(G405A)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
+1 more
GPathogenic
EDAR, RANBP2
(Y131C)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
+1 more
GUncertain significance
EDAR, RANBP2
(R325W)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
+1 more
GLikely pathogenic
EDAR, RANBP2
(L377P)
Single nucleotide variant
(missense variant)
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
+1 more
GUncertain significance
EDAR, RANBP2
(M192R)
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
GUncertain significance
EDAR, RANBP2
(A76V)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
+1 more
GLikely benign
EDAR, RANBP2
Single nucleotide variant
(synonymous variant)
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
+1 more
GLikely benign
EDAR, RANBP2
Single nucleotide variant
(synonymous variant)
Hypohidrotic Ectodermal Dysplasia, Dominant
+2 more
GBenign
EDAR, RANBP2
Single nucleotide variant
(synonymous variant)
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
+2 more
GLikely benign
RANBP2, EDAR
Single nucleotide variant
(synonymous variant)
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
+2 more
GBenign
EDAR, RANBP2
Single nucleotide variant
(synonymous variant)
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
+1 more
GBenign
EDAR, RANBP2
Single nucleotide variant
(synonymous variant)
Hypohidrotic ectodermal dysplasia
+3 more
GBenign/Likely benign
RANBP2, EDAR
(V246M)
Single nucleotide variant
(missense variant)
Hypohidrotic ectodermal dysplasia
+2 more
GBenign
EDAR, RANBP2
(T41K)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
+2 more
GUncertain significance
LOC129934529, RANBP2
+5 more
Duplication
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
+1 more
GUncertain significance
EDAR, RANBP2
(F381S)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
+1 more
GUncertain significance
CCDC138, EDAR
+5 more
Duplication
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
+2 more
GUncertain significance
EDAR, RANBP2
(K355del)
Microsatellite
(inframe_deletion)
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
+1 more
GUncertain significance
EDAR, RANBP2
(T363fs)
Deletion
(frameshift variant)
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
+1 more
GPathogenic
EDAR, RANBP2
(D110N)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
+2 more
GUncertain significance
EDAR, RANBP2
(Y36*)
Single nucleotide variant
(nonsense)
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
GUncertain significance
EDAR, RANBP2
Single nucleotide variant
(splice acceptor variant)
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
GUncertain significance
EDAR, RANBP2
(M391fs)
Duplication
(frameshift variant)
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
+1 more
GPathogenic
EDAR, RANBP2
Single nucleotide variant
(splice acceptor variant)
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
+1 more
GLikely pathogenic
EDAR, RANBP2
(D92G)
Single nucleotide variant
(missense variant)
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
+1 more
GUncertain significance
RANBP2, EDAR
(E311*)
Single nucleotide variant
(nonsense)
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
+1 more
GPathogenic
EDAR, RANBP2
(Y364fs)
Deletion
(frameshift variant)
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
+1 more
GPathogenic
EDAR, RANBP2
(R89C)
Single nucleotide variant
(missense variant)
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
+1 more
GPathogenic
EDAR, RANBP2
(G63S)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
+1 more
GUncertain significance
EDAR, RANBP2
(R98W)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
+3 more
GPathogenic/Likely pathogenic
EDAR, RANBP2
Single nucleotide variant
(synonymous variant)
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
+1 more
GBenign
EDAR, RANBP2
Deletion
(nonsense)
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
+1 more
GPathogenic
EDAR, RANBP2
(P56S)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
+1 more
GUncertain significance
EDAR, RANBP2
(I329F)
Single nucleotide variant
(missense variant)
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
+2 more
GConflicting classifications of pathogenicity
EDAR, RANBP2
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign
EDAR, RANBP2
Single nucleotide variant
(synonymous variant)
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
+5 more
GBenign/Likely benign
EDAR, RANBP2
(V15I)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
+2 more
GConflicting classifications of pathogenicity
EDAR, RANBP2
Single nucleotide variant
(synonymous variant)
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
+1 more
GLikely benign
EDAR, RANBP2
(T392I)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
+1 more
GUncertain significance
EDAR, RANBP2
(I388T)
Single nucleotide variant
(missense variant)
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
+2 more
GConflicting classifications of pathogenicity
EDAR, RANBP2
(A378T)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
+1 more
GPathogenic
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
(splice donor variant)
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
+1 more
GLikely pathogenic
EDAR, RANBP2
Single nucleotide variant
(synonymous variant)
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
+1 more
GLikely benign
EDAR, RANBP2
(C301*)
Single nucleotide variant
(nonsense)
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
+2 more
GPathogenic
EDAR, RANBP2
(G95fs)
Deletion
(frameshift variant)
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
GPathogenic
EDAR, RANBP2
(S23L)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
+4 more
GConflicting classifications of pathogenicity
EDAR, RANBP2
(P49L)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
+4 more
GConflicting classifications of pathogenicity
EDAR, RANBP2
(P225L)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
+3 more
GUncertain significance
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