U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EDAR, RANBP2
(R420Q)
Single nucleotide variant
(missense variant)
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
+3 more
GPathogenic/Likely pathogenic
EDAR, RANBP2
(G382S)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic
EDAR, RANBP2
(V370A)
Single nucleotide variant
(missense variant)
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
+6 more
GBenign
EDAR, RANBP2
Single nucleotide variant
(synonymous variant)
Hypohidrotic ectodermal dysplasia
+6 more
GBenign
EDAR, RANBP2
Single nucleotide variant
(synonymous variant)
Hypohidrotic ectodermal dysplasia
+3 more
GBenign/Likely benign
EDAR, RANBP2
(P75L)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
+3 more
GConflicting classifications of pathogenicity
Format
Items per page
Sort by
Choose Destination