ClinVar for MedGen (Select 410143) - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1675183	NM_001399.5(EDA):c.480C>G (p.Ser160Arg)	EDA (S160R)	Single nucleotide variant (missense variant)	Tooth agenesis, selective, X-linked, 1	GUncertain significance
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
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 625527	NM_001399.5(EDA):c.956G>A (p.Ser319Asn)	EDA (S319N +2 more)	Single nucleotide variant (missense variant)	Tooth agenesis, selective, X-linked, 1	GLikely pathogenic
Select item 618616	NM_001399.5(EDA):c.252del (p.Gly85fs)	EDA (G85fs)	Deletion (frameshift variant)	not provided +2 more	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 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 253053	NM_001399.5(EDA):c.776C>A (p.Ala259Glu)	EDA (A259E)	Single nucleotide variant (missense variant)	Tooth agenesis, selective, X-linked, 1	GPathogenic
Select item 228257	NM_001399.5(EDA):c.866G>A (p.Arg289His)	EDA (R289H +1 more)	Single nucleotide variant (missense variant)	Anhidrotic ectodermal dysplasia +4 more	GPathogenic/Likely pathogenic
Select item 127066	NM_001399.5(EDA):c.956G>T (p.Ser319Ile)	EDA (S319I +2 more)	Single nucleotide variant (missense variant)	Tooth agenesis, selective, X-linked, 1	Gnot provided
Select item 44197	NM_001399.5(EDA):c.546_581del (p.Asn185_Pro196del)	EDA	Deletion	Hypohidrotic X-linked ectodermal dysplasia +1 more	GPathogenic
Select item 44190	NM_001399.5(EDA):c.2T>C (p.Met1Thr)	EDA (M1T)	Single nucleotide variant (missense variant +1 more)	Tooth agenesis, selective, X-linked, 1 +2 more	GPathogenic
Select item 44185	NM_001399.5(EDA):c.1094T>C (p.Val365Ala)	EDA (V365A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GPathogenic/Likely pathogenic
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 11045	NM_001399.5(EDA):c.1072C>G (p.Gln358Glu)	EDA (Q358E +2 more)	Single nucleotide variant (missense variant)	Tooth agenesis, selective, X-linked, 1	GPathogenic
Select item 11044	NM_001399.5(EDA):c.193C>G (p.Arg65Gly)	EDA (R65G)	Single nucleotide variant (missense variant)	Tooth agenesis, selective, X-linked, 1	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 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 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