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Links from MedGen

Items: 34

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EDAR, RANBP2
(G182fs)
Deletion
(frameshift variant)
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
GLikely pathogenic
EDAR, RANBP2
(L353F)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
+2 more
GUncertain significance
EDAR, RANBP2
(C148R)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
GLikely pathogenic
EDAR, RANBP2
(Y69fs)
Deletion
(frameshift variant)
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
GPathogenic
EDARADD
Single nucleotide variant
(3 prime UTR variant)
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
GUncertain significance
EDARADD
Single nucleotide variant
(3 prime UTR variant)
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
GUncertain significance
EDARADD
Single nucleotide variant
(3 prime UTR variant)
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
GUncertain significance
EDAR, RANBP2
(C31*)
Single nucleotide variant
(nonsense)
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
GPathogenic
LOC129934529, RANBP2
+5 more
Duplication
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
(D110N)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
+2 more
GUncertain significance
EDAR, RANBP2
(W434G)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
GPathogenic
EDAR, RANBP2
(G70fs)
Indel
(frameshift variant)
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
GPathogenic
EDAR, RANBP2
(R98W)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic/Likely pathogenic
EDAR, RANBP2
(C93S)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
GPathogenic
EDAR, RANBP2
Single nucleotide variant
(synonymous variant)
Hypohidrotic ectodermal dysplasia
+5 more
GBenign/Likely benign
EDARADD
Single nucleotide variant
(3 prime UTR variant)
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
GLikely benign
EDARADD
Single nucleotide variant
(3 prime UTR variant)
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
GLikely benign
RANBP2, EDAR
Single nucleotide variant
(synonymous variant)
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
+6 more
GBenign/Likely benign
EDAR, RANBP2
Single nucleotide variant
(synonymous variant)
Hypohidrotic ectodermal dysplasia
+6 more
GBenign
EDAR, RANBP2
Single nucleotide variant
(intron variant)
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
+2 more
GBenign
EDAR, RANBP2
Single nucleotide variant
(synonymous variant)
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
+6 more
GBenign
RANBP2, EDAR
Single nucleotide variant
(intron variant)
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
+2 more
GBenign
EDAR, RANBP2
Single nucleotide variant
(3 prime UTR variant)
Hypohidrotic ectodermal dysplasia
+4 more
GBenign
EDAR, RANBP2
Single nucleotide variant
(splice donor variant)
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
GPathogenic
EDAR, RANBP2
(K240fs)
Microsatellite
(frameshift variant)
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
GPathogenic/Likely pathogenic
EDAR, RANBP2
(V370A)
Single nucleotide variant
(missense variant)
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
+6 more
GBenign
EDAR, RANBP2
(D110A)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
GPathogenic
EDAR, RANBP2
(R375H)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
GPathogenic
EDAR, RANBP2
Single nucleotide variant
(splice donor variant)
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
GPathogenic
EDAR, RANBP2
(C87R)
Single nucleotide variant
(missense variant)
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
+2 more
GUncertain significance
EDAR, LOC126806303
+2 more
Deletion
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
GPathogenic
EDAR, RANBP2
(R89H)
Single nucleotide variant
(missense variant)
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
+1 more
GPathogenic
EDAR, RANBP2
Deletion
(intron variant)
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
GPathogenic
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