C1970757[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1398395	NM_001399.5(EDA):c.157C>T (p.Leu53Phe)	EDA (L53F)	Single nucleotide variant (missense variant)	Hypohidrotic X-linked ectodermal dysplasia +1 more	GUncertain significance
Select item 11031	NM_001399.5(EDA):c.181T>C (p.Tyr61His)	EDA (Y61H)	Single nucleotide variant (missense variant)	Hypohidrotic X-linked ectodermal dysplasia +1 more	GPathogenic/Likely pathogenic
Select item 11035	NM_001399.5(EDA):c.463C>T (p.Arg155Cys)	EDA (R155C)	Single nucleotide variant (missense variant)	Tooth agenesis, selective, X-linked, 1 +2 more	GPathogenic
Select item 11037	NM_001399.5(EDA):c.467G>A (p.Arg156His)	EDA (R156H)	Single nucleotide variant (missense variant)	Hypohidrotic X-linked ectodermal dysplasia +2 more	GPathogenic
Select item 44197	NC_000023.11:g.70027876_70027911del	EDA	Deletion	Hypohidrotic X-linked ectodermal dysplasia +1 more	GPathogenic
Select item 253055	NM_001399.5(EDA):c.1001G>A (p.Arg334His)	EDA (R334H +2 more)	Single nucleotide variant (missense variant)	See cases +3 more	GBenign
Select item 1482275	NM_001399.5(EDA):c.1093G>A (p.Val365Met)	EDA (V365M +2 more)	Single nucleotide variant (missense variant)	Hypohidrotic X-linked ectodermal dysplasia +1 more	GLikely pathogenic

ClinVar