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Links from MedGen

Items: 1 to 100 of 165

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EDAR, RANBP2
Single nucleotide variant
(5 prime UTR variant)
Hypohidrotic ectodermal dysplasia
GUncertain significance
EDAR, RANBP2
Single nucleotide variant
(intron variant)
Hypohidrotic ectodermal dysplasia
GBenign
EDAR, RANBP2
(S283R)
Single nucleotide variant
(missense variant)
Hypohidrotic ectodermal dysplasia
GUncertain significance
EDAR, RANBP2
Single nucleotide variant
(synonymous variant)
Hypohidrotic ectodermal dysplasia
GBenign
EDAR, RANBP2
Single nucleotide variant
(synonymous variant)
Hypohidrotic ectodermal dysplasia
GUncertain significance
EDAR, RANBP2
Single nucleotide variant
(3 prime UTR variant)
Hypohidrotic ectodermal dysplasia
GUncertain significance
EDAR, RANBP2
Single nucleotide variant
(3 prime UTR variant)
Hypohidrotic ectodermal dysplasia
GUncertain significance
EDAR, RANBP2
Single nucleotide variant
(3 prime UTR variant)
Hypohidrotic ectodermal dysplasia
GUncertain significance
EDAR, RANBP2
Single nucleotide variant
(3 prime UTR variant)
Hypohidrotic ectodermal dysplasia
GUncertain significance
EDAR, RANBP2
Single nucleotide variant
(3 prime UTR variant)
Hypohidrotic ectodermal dysplasia
GBenign
RANBP2, EDAR
Single nucleotide variant
(3 prime UTR variant)
Hypohidrotic ectodermal dysplasia
GBenign
EDAR, RANBP2
Single nucleotide variant
(3 prime UTR variant)
Hypohidrotic ectodermal dysplasia
GUncertain significance
EDAR, RANBP2
Single nucleotide variant
(3 prime UTR variant)
Hypohidrotic ectodermal dysplasia
GUncertain significance
RANBP2, EDAR
Single nucleotide variant
(synonymous variant)
Hypohidrotic ectodermal dysplasia
GLikely benign
EDAR, RANBP2
(G70S)
Single nucleotide variant
(missense variant)
Hypohidrotic ectodermal dysplasia
GUncertain significance
EDAR, RANBP2
Single nucleotide variant
(3 prime UTR variant)
Hypohidrotic ectodermal dysplasia
GUncertain significance
EDAR, RANBP2
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
EDAR, RANBP2
Single nucleotide variant
(3 prime UTR variant)
Hypohidrotic ectodermal dysplasia
GUncertain significance
EDAR, RANBP2
(A187V)
Single nucleotide variant
(missense variant)
Hypohidrotic ectodermal dysplasia
GUncertain significance
EDAR, RANBP2
Single nucleotide variant
(synonymous variant)
Hypohidrotic ectodermal dysplasia
GUncertain significance
EDAR, RANBP2
Single nucleotide variant
(synonymous variant)
Hypohidrotic ectodermal dysplasia
GLikely benign
EDAR, RANBP2
Single nucleotide variant
(3 prime UTR variant)
Hypohidrotic ectodermal dysplasia
GUncertain significance
EDAR, RANBP2
Single nucleotide variant
(3 prime UTR variant)
Hypohidrotic ectodermal dysplasia
GUncertain significance
EDAR, RANBP2
Single nucleotide variant
(3 prime UTR variant)
Hypohidrotic ectodermal dysplasia
GBenign
EDAR, RANBP2
Single nucleotide variant
(3 prime UTR variant)
Hypohidrotic ectodermal dysplasia
GUncertain significance
EDAR, RANBP2
Single nucleotide variant
(3 prime UTR variant)
Hypohidrotic ectodermal dysplasia
GUncertain significance
EDAR, RANBP2
Single nucleotide variant
(3 prime UTR variant)
Hypohidrotic ectodermal dysplasia
GUncertain significance
EDAR, RANBP2
Single nucleotide variant
(3 prime UTR variant)
Hypohidrotic ectodermal dysplasia
GLikely benign
EDAR, RANBP2
Single nucleotide variant
(3 prime UTR variant)
Hypohidrotic ectodermal dysplasia
GLikely benign
EDAR, RANBP2
Single nucleotide variant
(3 prime UTR variant)
Hypohidrotic ectodermal dysplasia
GUncertain significance
EDAR, RANBP2
Single nucleotide variant
(3 prime UTR variant)
Hypohidrotic ectodermal dysplasia
GUncertain significance
EDAR, RANBP2
Single nucleotide variant
(5 prime UTR variant)
Hypohidrotic ectodermal dysplasia
GUncertain significance
EDAR, RANBP2
Single nucleotide variant
(intron variant)
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
+2 more
GLikely benign
EDAR, RANBP2
Single nucleotide variant
(3 prime UTR variant)
Hypohidrotic ectodermal dysplasia
GUncertain significance
RANBP2, EDAR
Single nucleotide variant
(3 prime UTR variant)
Hypohidrotic ectodermal dysplasia
GUncertain significance
EDAR, RANBP2
Single nucleotide variant
(3 prime UTR variant)
Hypohidrotic ectodermal dysplasia
GUncertain significance
RANBP2, EDAR
Single nucleotide variant
(3 prime UTR variant)
Hypohidrotic ectodermal dysplasia
GUncertain significance
EDAR, RANBP2
Single nucleotide variant
(3 prime UTR variant)
Hypohidrotic ectodermal dysplasia
GUncertain significance
EDAR, RANBP2
Single nucleotide variant
(3 prime UTR variant)
Hypohidrotic ectodermal dysplasia
GUncertain significance
EDAR, RANBP2
Single nucleotide variant
(3 prime UTR variant)
Hypohidrotic ectodermal dysplasia
GBenign
EDAR, RANBP2
Single nucleotide variant
(3 prime UTR variant)
Hypohidrotic ectodermal dysplasia
GUncertain significance
EDAR, RANBP2
Single nucleotide variant
(3 prime UTR variant)
Hypohidrotic ectodermal dysplasia
GUncertain significance
EDAR, RANBP2
Single nucleotide variant
(3 prime UTR variant)
Hypohidrotic ectodermal dysplasia
GBenign
EDAR, RANBP2
Single nucleotide variant
(3 prime UTR variant)
Hypohidrotic ectodermal dysplasia
GUncertain significance
EDARADD
Single nucleotide variant
(3 prime UTR variant)
Hypohidrotic ectodermal dysplasia
GUncertain significance
EDARADD
Single nucleotide variant
(3 prime UTR variant)
Hypohidrotic ectodermal dysplasia
GUncertain significance
EDARADD
Single nucleotide variant
(3 prime UTR variant)
Hypohidrotic ectodermal dysplasia
GUncertain significance
EDARADD
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
EDARADD
Single nucleotide variant
(3 prime UTR variant)
Hypohidrotic ectodermal dysplasia
GUncertain significance
EDARADD
Single nucleotide variant
(3 prime UTR variant)
Hypohidrotic ectodermal dysplasia
GUncertain significance
EDARADD
Single nucleotide variant
(3 prime UTR variant)
Hypohidrotic ectodermal dysplasia
GUncertain significance
EDARADD
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
EDARADD
Single nucleotide variant
(3 prime UTR variant)
Hypohidrotic ectodermal dysplasia
GBenign
EDARADD
Single nucleotide variant
(3 prime UTR variant)
Hypohidrotic ectodermal dysplasia
GUncertain significance
EDARADD
Single nucleotide variant
(intron variant)
Hypohidrotic ectodermal dysplasia
GUncertain significance
EDARADD
Single nucleotide variant
(intron variant)
Hypohidrotic ectodermal dysplasia
+2 more
GBenign
EDARADD
Single nucleotide variant
(3 prime UTR variant)
Hypohidrotic ectodermal dysplasia
GUncertain significance
EDARADD
Single nucleotide variant
(3 prime UTR variant)
Hypohidrotic ectodermal dysplasia
GUncertain significance
EDARADD
Single nucleotide variant
(3 prime UTR variant)
Hypohidrotic ectodermal dysplasia
GUncertain significance
EDARADD
Single nucleotide variant
(3 prime UTR variant)
Hypohidrotic ectodermal dysplasia
GUncertain significance
EDARADD
Single nucleotide variant
(3 prime UTR variant)
Hypohidrotic ectodermal dysplasia
GBenign
EDARADD
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
EDARADD
Single nucleotide variant
(3 prime UTR variant)
Hypohidrotic ectodermal dysplasia
GUncertain significance
EDAR, RANBP2
(S268C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
EDAR, RANBP2
Single nucleotide variant
(synonymous variant)
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
+2 more
GLikely benign
EDAR, RANBP2
Single nucleotide variant
(synonymous variant)
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
+2 more
GBenign
EDAR, RANBP2
Single nucleotide variant
(synonymous variant)
Hypohidrotic ectodermal dysplasia
+3 more
GBenign/Likely benign
EDAR, RANBP2
(V246M)
Single nucleotide variant
(missense variant)
Hypohidrotic ectodermal dysplasia
+3 more
GBenign
EDARADD
Single nucleotide variant
(synonymous variant)
Hypohidrotic ectodermal dysplasia
+2 more
GBenign
EDAR, RANBP2
Single nucleotide variant
(synonymous variant)
Hypohidrotic ectodermal dysplasia
+3 more
GBenign
EDAR, RANBP2
Single nucleotide variant
(synonymous variant)
Hypohidrotic ectodermal dysplasia
+5 more
GBenign/Likely benign
EDAR, RANBP2
Single nucleotide variant
(5 prime UTR variant)
Hypohidrotic Ectodermal Dysplasia, Dominant
+1 more
GUncertain significance
EDAR, RANBP2
Single nucleotide variant
(5 prime UTR variant)
Hypohidrotic Ectodermal Dysplasia, Dominant
+1 more
GUncertain significance
EDAR, RANBP2
Single nucleotide variant
(5 prime UTR variant)
Hypohidrotic Ectodermal Dysplasia, Dominant
+1 more
GUncertain significance
EDAR, RANBP2
Single nucleotide variant
(5 prime UTR variant)
Hypohidrotic Ectodermal Dysplasia, Dominant
+1 more
GConflicting classifications of pathogenicity
EDAR, RANBP2
Single nucleotide variant
(5 prime UTR variant)
Hypohidrotic Ectodermal Dysplasia, Dominant
+1 more
GUncertain significance
EDAR, RANBP2
Single nucleotide variant
(5 prime UTR variant)
Hypohidrotic Ectodermal Dysplasia, Dominant
+1 more
GUncertain significance
EDAR, RANBP2
Single nucleotide variant
(5 prime UTR variant)
Hypohidrotic Ectodermal Dysplasia, Dominant
+1 more
GUncertain significance
EDAR, RANBP2
(S23L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
EDAR, RANBP2
(P49L)
Single nucleotide variant
(missense variant)
Hypohidrotic Ectodermal Dysplasia, Dominant
+4 more
GConflicting classifications of pathogenicity
EDAR, RANBP2
Single nucleotide variant
(synonymous variant)
Hypohidrotic Ectodermal Dysplasia, Dominant
+1 more
GUncertain significance
EDAR, RANBP2
(V203I)
Single nucleotide variant
(missense variant)
Hypohidrotic ectodermal dysplasia
+5 more
GUncertain significance
EDAR, RANBP2
(P225L)
Single nucleotide variant
(missense variant)
Hypohidrotic Ectodermal Dysplasia, Dominant
+3 more
GUncertain significance
EDAR, RANBP2
(R282W)
Single nucleotide variant
(missense variant)
Hypohidrotic Ectodermal Dysplasia, Dominant
+1 more
GConflicting classifications of pathogenicity
EDAR, RANBP2
(M395V)
Single nucleotide variant
(missense variant)
Hypohidrotic Ectodermal Dysplasia, Dominant
+1 more
GUncertain significance
EDAR, RANBP2
(D430N)
Single nucleotide variant
(missense variant)
Hypohidrotic Ectodermal Dysplasia, Dominant
+1 more
GUncertain significance
EDAR, RANBP2
Single nucleotide variant
(3 prime UTR variant)
Hypohidrotic Ectodermal Dysplasia, Dominant
+1 more
GUncertain significance
EDAR, RANBP2
Single nucleotide variant
(3 prime UTR variant)
Hypohidrotic Ectodermal Dysplasia, Dominant
+1 more
GBenign/Likely benign
EDAR, RANBP2
Single nucleotide variant
(3 prime UTR variant)
Hypohidrotic Ectodermal Dysplasia, Dominant
+1 more
GUncertain significance
EDAR, RANBP2
Single nucleotide variant
(3 prime UTR variant)
Hypohidrotic Ectodermal Dysplasia, Dominant
+1 more
GUncertain significance
EDAR, RANBP2
Single nucleotide variant
(3 prime UTR variant)
Hypohidrotic Ectodermal Dysplasia, Dominant
+1 more
GUncertain significance
EDAR, RANBP2
Single nucleotide variant
(3 prime UTR variant)
Hypohidrotic ectodermal dysplasia
+2 more
GBenign/Likely benign
EDAR, RANBP2
Single nucleotide variant
(3 prime UTR variant)
Hypohidrotic Ectodermal Dysplasia, Dominant
+1 more
GBenign/Likely benign
EDAR, RANBP2
Single nucleotide variant
(3 prime UTR variant)
Hypohidrotic Ectodermal Dysplasia, Dominant
+2 more
GBenign/Likely benign
RANBP2, EDAR
Single nucleotide variant
(3 prime UTR variant)
Hypohidrotic ectodermal dysplasia
+1 more
GBenign/Likely benign
EDAR, RANBP2
Single nucleotide variant
(3 prime UTR variant)
Hypohidrotic Ectodermal Dysplasia, Dominant
+1 more
GBenign/Likely benign
EDAR, RANBP2
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GBenign
RANBP2, EDAR
Single nucleotide variant
(3 prime UTR variant)
Hypohidrotic Ectodermal Dysplasia, Dominant
+1 more
GUncertain significance
EDAR, RANBP2
Single nucleotide variant
(3 prime UTR variant)
Hypohidrotic Ectodermal Dysplasia, Dominant
+1 more
GUncertain significance
EDAR, RANBP2
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GBenign/Likely benign
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