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Links from MedGen

Items: 43

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EDARADD
(E147K +2 more)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive
GPathogenic
EDARADD
Deletion
(intron variant)
Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive
+1 more
GLikely benign
EDARADD
(G64R +2 more)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive
+1 more
GUncertain significance
EDARADD
Single nucleotide variant
(synonymous variant)
Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant
+1 more
GLikely benign
EDARADD
(S24N +2 more)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant
+1 more
GUncertain significance
EDARADD
(Q8E)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant
+1 more
GUncertain significance
EDARADD
Duplication
(intron variant)
Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant
+1 more
GBenign
EDARADD
Single nucleotide variant
(intron variant)
Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant
+1 more
GBenign
EDARADD
Duplication
Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant
+1 more
GUncertain significance
EDARADD
(S139F +2 more)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant
+1 more
GUncertain significance
EDARADD
(D120I +2 more)
Indel
(missense variant)
Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant
+1 more
GUncertain significance
EDARADD
Duplication
Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive
+1 more
GLikely pathogenic
EDARADD
Deletion
(intron variant)
not provided
GBenign
EDARADD
Single nucleotide variant
(intron variant)
Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant
+2 more
GBenign
EDARADD
Single nucleotide variant
(intron variant)
Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive
+2 more
GBenign
EDARADD
(D180N +2 more)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant
+1 more
GUncertain significance
EDARADD
(G137V +2 more)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive
GUncertain significance
EDARADD
(D180E +2 more)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive
GPathogenic
EDARADD
(E19K +2 more)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive
GPathogenic
EDARADD
Single nucleotide variant
(intron variant)
Hypohidrotic ectodermal dysplasia
+2 more
GBenign
EDARADD
(P121L +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
EDARADD
(N67Y +2 more)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant
+1 more
GUncertain significance
EDARADD
Single nucleotide variant
(synonymous variant)
Hypohidrotic ectodermal dysplasia
+2 more
GBenign
EDARADD
(R170Q +2 more)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive
+3 more
GUncertain significance
EDARADD
(W139* +2 more)
Single nucleotide variant
(nonsense)
Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant
+1 more
GPathogenic
EDARADD
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GBenign/Likely benign
EDARADD
(R66* +2 more)
Single nucleotide variant
(nonsense)
Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive
+1 more
GPathogenic
EDARADD
Single nucleotide variant
(synonymous variant)
Hypohidrotic Ectodermal Dysplasia, Recessive
+5 more
GBenign/Likely benign
EDARADD
(S103F +2 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GBenign/Likely benign
EDARADD
(M9I)
Single nucleotide variant
(missense variant)
Hypohidrotic Ectodermal Dysplasia, Recessive
+5 more
GBenign
EDARADD
Single nucleotide variant
(intron variant)
not specified
+4 more
GConflicting classifications of pathogenicity
EDARADD
Single nucleotide variant
(splice donor variant)
Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive
GPathogenic
EDARADD
(D123N +2 more)
Single nucleotide variant
(missense variant)
ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT
GPathogenic
EDAR, RANBP2
(R420Q)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
+3 more
GPathogenic/Likely pathogenic
EDARADD
(E142K +2 more)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive
GPathogenic
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