"Ambry Genetics"[submitter] AND "EDA"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 44189	NM_001399.5(EDA):c.173_175del (p.Leu58del)	EDA (L58del)	Deletion (inframe_deletion)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2379015	NM_001399.5(EDA):c.179G>A (p.Cys60Tyr)	EDA (C60Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3087113	NM_001399.5(EDA):c.502_502+19del	EDA	Deletion (frameshift variant +1 more)	Inborn genetic diseases	GLikely pathogenic
Select item 1668057	NM_001399.5(EDA):c.717T>G (p.Asp239Glu)	EDA (D239E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 528356	NM_001399.5(EDA):c.941T>C (p.Phe314Ser)	EDA (F314S +2 more)	Single nucleotide variant (missense variant)	Hypohidrotic X-linked ectodermal dysplasia +1 more	GUncertain significance
Select item 44185	NM_001399.5(EDA):c.1094T>C (p.Val365Ala)	EDA (V365A +2 more)	Single nucleotide variant (missense variant)	Partial congenital absence of teeth +5 more	GPathogenic/Likely pathogenic
Select item 770094	NM_001399.5(EDA):c.1168G>A (p.Ala390Thr)	EDA (A385T +2 more)	Single nucleotide variant (missense variant)	Hypohidrotic X-linked ectodermal dysplasia +1 more	GConflicting classifications of pathogenicity

ClinVar