"Natera, Inc."[submitter] AND "EDA"[gene] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1169967	NM_001399.5(EDA):c.60A>C (p.Arg20=)	EDA	Single nucleotide variant (synonymous variant)	Hypohidrotic X-linked ectodermal dysplasia	GBenign
Select item 583287	NM_001399.5(EDA):c.97C>T (p.Arg33Trp)	EDA (R33W)	Single nucleotide variant (missense variant)	Hypohidrotic X-linked ectodermal dysplasia	GUncertain significance
Select item 760991	NM_001399.5(EDA):c.135T>C (p.Gly45=)	EDA	Single nucleotide variant (synonymous variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely benign
Select item 11032	NM_001399.5(EDA):c.206G>T (p.Arg69Leu)	EDA (R69L)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1133813	NM_001399.5(EDA):c.234T>C (p.Leu78=)	EDA	Single nucleotide variant (synonymous variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely benign
Select item 991716	NM_001399.5(EDA):c.249C>G (p.Thr83=)	EDA	Single nucleotide variant (synonymous variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely benign
Select item 528361	NM_001399.5(EDA):c.301C>T (p.Pro101Ser)	EDA (P101S)	Single nucleotide variant (missense variant)	Hypohidrotic X-linked ectodermal dysplasia	GUncertain significance
Select item 765813	NM_001399.5(EDA):c.354G>C (p.Pro118=)	EDA	Single nucleotide variant (synonymous variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely benign
Select item 1113123	NM_001399.5(EDA):c.371A>G (p.His124Arg)	EDA (H124R)	Single nucleotide variant (missense variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely benign
Select item 772734	NM_001399.5(EDA):c.390G>T (p.Gly130=)	EDA	Single nucleotide variant (synonymous variant)	Hypohidrotic X-linked ectodermal dysplasia	GBenign
Select item 991717	NM_001399.5(EDA):c.396+10C>T	EDA	Single nucleotide variant (intron variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely benign
Select item 702172	NM_001399.5(EDA):c.458G>A (p.Arg153His)	EDA (R153H)	Single nucleotide variant (missense variant)	Hypohidrotic X-linked ectodermal dysplasia +1 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 702090	NM_001399.5(EDA):c.464G>A (p.Arg155His)	EDA (R155H)	Single nucleotide variant (missense variant)	Hypohidrotic X-linked ectodermal dysplasia +1 more	GConflicting classifications of pathogenicity
Select item 44200	NM_001399.5(EDA):c.572_589del (p.188_190PGP[1])	EDA	Deletion	Hypohidrotic X-linked ectodermal dysplasia +2 more	GConflicting classifications of pathogenicity
Select item 44204	NM_001399.5(EDA):c.706+11_706+12del	EDA	Deletion (intron variant)	not provided +2 more	GBenign
Select item 772621	NM_001399.5(EDA):c.870C>T (p.Ser290=)	EDA	Single nucleotide variant (synonymous variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely benign
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 710891	NM_001399.5(EDA):c.1014G>A (p.Thr338=)	EDA	Single nucleotide variant (synonymous variant)	Hypohidrotic X-linked ectodermal dysplasia	GBenign
Select item 739886	NM_001399.5(EDA):c.1080C>T (p.Ile360=)	EDA	Single nucleotide variant (synonymous variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely benign
Select item 706925	NM_001399.5(EDA):c.1104C>T (p.Asp368=)	EDA	Single nucleotide variant (synonymous variant)	Hypohidrotic X-linked ectodermal dysplasia	GBenign
Select item 839246	NM_001399.5(EDA):c.1116C>G (p.Asn372Lys)	EDA (N367K +2 more)	Single nucleotide variant (missense variant)	Hypohidrotic X-linked ectodermal dysplasia	GPathogenic
Select item 1090117	NM_001399.5(EDA):c.1137C>T (p.Phe379=)	EDA	Single nucleotide variant (synonymous variant)	Hypohidrotic X-linked ectodermal dysplasia	GLikely benign

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Items: 23