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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EDA
(L44fs)
Deletion
(frameshift variant)
Hypohidrotic X-linked ectodermal dysplasia
GLikely pathogenic
EDA
(R153C)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic
EDA
(R155C)
Single nucleotide variant
(missense variant)
Hypohidrotic X-linked ectodermal dysplasia
+2 more
GPathogenic
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