Related gene-specific medical variations for Gene (Select 1896) - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2627088	NM_001399.5(EDA):c.178T>C (p.Cys60Arg)	EDA (C60R)	Single nucleotide variant (missense variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely pathogenic
Select item 2579123	NM_001399.5(EDA):c.706G>A (p.Gly236Ser)	EDA (G236S)	Single nucleotide variant (missense variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely pathogenic
Select item 2503416	NM_001399.5(EDA):c.760C>T (p.Gln254Ter)	EDA (Q254*)	Single nucleotide variant (nonsense)	Hypohidrotic X-linked ectodermal dysplasia	GUncertain significance
Select item 2441174	NM_001399.5(EDA):c.910T>G (p.Tyr304Asp)	EDA (Y301D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1808453	GRCh37/hg19 Xq13.1(chrX:68961570-69095884)x1	EDA	Copy number loss	not provided	GUncertain significance
Select item 1344561	NM_001399.5(EDA):c.868A>T (p.Ser290Cys)	EDA (S287C +1 more)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1344560	NM_001399.5(EDA):c.866G>C (p.Arg289Pro)	EDA (R286P +1 more)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1324318	NM_001399.5(EDA):c.229del (p.Arg77fs)	EDA (R77fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1324317	NM_001399.5(EDA):c.741+2T>C	EDA	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1244224	NM_001399.5(EDA):c.1136T>C (p.Phe379Ser)	EDA (F374S +2 more)	Single nucleotide variant (missense variant)	Hypohidrotic X-linked ectodermal dysplasia	GPathogenic
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 253607	GRCh37/hg19 Xq13.1(chrX:69250807-69256658)x1	EDA	Copy number loss	See cases	GPathogenic
Select item 151863	GRCh38/hg38 Xq13.1(chrX:69789628-69822584)x1	EDA	Copy number loss	See cases	GLikely benign
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 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