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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EDARADD
(L112R +2 more)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant
GPathogenic
EDARADD
Deletion
(inframe_indel +1 more)
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
Gnot provided
EDARADD
(E142K +2 more)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive
GPathogenic
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