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Links from MedGen

Items: 19

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EDA
(S160R)
Single nucleotide variant
(missense variant)
Tooth agenesis, selective, X-linked, 1
GUncertain significance
EDA
(V365M +2 more)
Single nucleotide variant
(missense variant)
Tooth agenesis, selective, X-linked, 1
+1 more
GLikely pathogenic
EDA
(L53F)
Single nucleotide variant
(missense variant)
Hypohidrotic X-linked ectodermal dysplasia
+1 more
GUncertain significance
EDA
(S319N +2 more)
Single nucleotide variant
(missense variant)
Tooth agenesis, selective, X-linked, 1
GLikely pathogenic
EDA
(G85fs)
Deletion
(frameshift variant)
not provided
+2 more
GPathogenic
EDA
(R334H +2 more)
Single nucleotide variant
(missense variant)
Hypohidrotic X-linked ectodermal dysplasia
+3 more
GBenign
EDA
(R289C +1 more)
Single nucleotide variant
(missense variant)
Hypohidrotic X-linked ectodermal dysplasia
GPathogenic
EDA
(A259E)
Single nucleotide variant
(missense variant)
Tooth agenesis, selective, X-linked, 1
GPathogenic
EDA
(R289H +1 more)
Single nucleotide variant
(missense variant)
Anhidrotic ectodermal dysplasia
+3 more
GPathogenic/Likely pathogenic
EDA
(S319I +2 more)
Single nucleotide variant
(missense variant)
Tooth agenesis, selective, X-linked, 1
Gnot provided
EDA
Deletion
Hypohidrotic X-linked ectodermal dysplasia
+1 more
GPathogenic
EDA
(M1T)
Single nucleotide variant
(missense variant +1 more)
Tooth agenesis, selective, X-linked, 1
+2 more
GPathogenic
EDA
(V365A +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+5 more
GPathogenic/Likely pathogenic
EDA
(T338M +2 more)
Single nucleotide variant
(missense variant)
Hypohidrotic X-linked ectodermal dysplasia
GPathogenic
EDA
(Q358E +2 more)
Single nucleotide variant
(missense variant)
Tooth agenesis, selective, X-linked, 1
GPathogenic
EDA
(R65G)
Single nucleotide variant
(missense variant)
Tooth agenesis, selective, X-linked, 1
GPathogenic
EDA
(R156H)
Single nucleotide variant
(missense variant)
Hypohidrotic X-linked ectodermal dysplasia
+2 more
GPathogenic
EDA
(R155C)
Single nucleotide variant
(missense variant)
Hypohidrotic X-linked ectodermal dysplasia
+2 more
GPathogenic
EDA
(Y61H)
Single nucleotide variant
(missense variant)
Hypohidrotic X-linked ectodermal dysplasia
+1 more
GPathogenic/Likely pathogenic
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