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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TSPEAR
(G475S +1 more)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis
+1 more
GConflicting classifications of pathogenicity
TSPEAR
(R197* +1 more)
Single nucleotide variant
(nonsense)
TSPEAR-related disorder
+5 more
GConflicting classifications of pathogenicity