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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EDA
(L53F)
Single nucleotide variant
(missense variant)
Hypohidrotic X-linked ectodermal dysplasia
+1 more
GUncertain significance
EDA
(Y61H)
Single nucleotide variant
(missense variant)
Hypohidrotic X-linked ectodermal dysplasia
+1 more
GPathogenic/Likely pathogenic
EDA
(R155C)
Single nucleotide variant
(missense variant)
Hypohidrotic X-linked ectodermal dysplasia
+2 more
GPathogenic
EDA
(R156H)
Single nucleotide variant
(missense variant)
Hypohidrotic X-linked ectodermal dysplasia
+2 more
GPathogenic
EDA
Deletion
Hypohidrotic X-linked ectodermal dysplasia
+1 more
GPathogenic
EDA
(R334H +2 more)
Single nucleotide variant
(missense variant)
Hypohidrotic X-linked ectodermal dysplasia
+3 more
GBenign
EDA
(V365M +2 more)
Single nucleotide variant
(missense variant)
Hypohidrotic X-linked ectodermal dysplasia
+1 more
GLikely pathogenic
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