C0162359[trait identifier] AND "OMIM"[submitter] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 39591	NM_021783.5(EDA2R):c.253del (p.Asp85fs)	EDA2R (D85fs +1 more)	Deletion (frameshift variant +2 more)	Hypohidrotic X-linked ectodermal dysplasia	GUncertain significance
Select item 11033	NM_001399.5(EDA):c.67C>T (p.Gln23Ter)	EDA (Q23*)	Single nucleotide variant (nonsense)	Hypohidrotic X-linked ectodermal dysplasia	GPathogenic
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 11034	NM_001399.5(EDA):c.187G>A (p.Glu63Lys)	EDA (E63K)	Single nucleotide variant (missense variant)	Hypohidrotic X-linked ectodermal dysplasia	GPathogenic
Select item 11032	NM_001399.5(EDA):c.206G>T (p.Arg69Leu)	EDA (R69L)	Single nucleotide variant (missense variant)	EDA-related condition +3 more	GConflicting classifications of pathogenicity
Select item 11035	NM_001399.5(EDA):c.463C>T (p.Arg155Cys)	EDA (R155C)	Single nucleotide variant (missense variant)	Hypohidrotic X-linked ectodermal dysplasia +2 more	GPathogenic
Select item 11036	NM_001399.5(EDA):c.466C>T (p.Arg156Cys)	EDA (R156C)	Single nucleotide variant (missense variant)	Hypohidrotic X-linked ectodermal dysplasia +2 more	GPathogenic/Likely pathogenic
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 11046	NM_001399.5(EDA):c.573_574insT (p.Gly192fs)	EDA (G192fs)	Insertion (frameshift variant)	Hypohidrotic X-linked ectodermal dysplasia	GPathogenic
Select item 11038	NM_001399.5(EDA):c.626C>T (p.Pro209Leu)	EDA (P209L)	Single nucleotide variant (missense variant)	Hypohidrotic X-linked ectodermal dysplasia +1 more	GConflicting classifications of pathogenicity
Select item 11039	NM_001399.5(EDA):c.671G>C (p.Gly224Ala)	EDA (G224A)	Single nucleotide variant (missense variant)	Hypohidrotic X-linked ectodermal dysplasia	GPathogenic
Select item 253056	NM_001399.5(EDA):c.755A>T (p.His252Leu)	EDA (H252L)	Single nucleotide variant (missense variant)	Hypohidrotic X-linked ectodermal dysplasia	GPathogenic
Select item 31908	NM_001399.5(EDA):c.826C>T (p.Arg276Cys)	EDA (R276C +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 253054	NM_001399.5(EDA):c.865C>T (p.Arg289Cys)	EDA (R289C +1 more)	Single nucleotide variant (missense variant)	Hypohidrotic X-linked ectodermal dysplasia	GPathogenic
Select item 11047	NM_001399.5(EDA):c.912_913dup (p.Ser305fs)	EDA (S302fs +1 more)	Microsatellite (frameshift variant)	Hypohidrotic X-linked ectodermal dysplasia	GPathogenic
Select item 253055	NM_001399.5(EDA):c.1001G>A (p.Arg334His)	EDA (R334H +2 more)	Single nucleotide variant (missense variant)	Hypohidrotic X-linked ectodermal dysplasia +3 more	GBenign
Select item 11048	NM_001399.5(EDA):c.1013C>T (p.Thr338Met)	EDA (T338M +2 more)	Single nucleotide variant (missense variant)	Hypohidrotic X-linked ectodermal dysplasia	GPathogenic
Select item 11040	NM_001399.5(EDA):c.1045G>A (p.Ala349Thr)	EDA (A349T +2 more)	Single nucleotide variant (missense variant)	Hypohidrotic X-linked ectodermal dysplasia +1 more	GPathogenic
Select item 11043	EDA, 1-BP DEL, EX6	EDA	Deletion	Hypohidrotic X-linked ectodermal dysplasia	GPathogenic
Select item 11042	EDA, 36-BP DEL, EX5	EDA	Deletion	Hypohidrotic X-linked ectodermal dysplasia	GPathogenic

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Items: 20