"GeneDx"[submitter] AND "EDARADD"[gene] - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	LOC120908923, LOC120947224 +1352 more	Copy number gain	See cases	GPathogenic
Select item 1226215	NC_000001.11:g.236394112T>G	EDARADD	Single nucleotide variant	not provided	GBenign
Select item 262598	NM_145861.4(EDARADD):c.-3G>A	EDARADD	Single nucleotide variant (5 prime UTR variant)	not provided +3 more	GBenign/Likely benign
Select item 262600	NM_145861.4(EDARADD):c.27G>A (p.Met9Ile)	EDARADD (M9I)	Single nucleotide variant (missense variant)	Hypohidrotic ectodermal dysplasia +5 more	GBenign
Select item 282055	NM_145861.4(EDARADD):c.60G>A (p.Glu20=)	EDARADD	Single nucleotide variant (synonymous variant)	Hypohidrotic ectodermal dysplasia +5 more	GBenign/Likely benign
Select item 1277162	NM_145861.4(EDARADD):c.61+118G>T	EDARADD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 439637	NM_145861.4(EDARADD):c.61+123G>A	EDARADD	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1223643	NM_145861.4(EDARADD):c.61+1091C>T	EDARADD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1295013	NM_145861.4(EDARADD):c.61+1244G>A	EDARADD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240648	NM_145861.4(EDARADD):c.62-263T>G	EDARADD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1255321	NM_145861.4(EDARADD):c.62-129dup	EDARADD	Duplication (intron variant)	not provided	GBenign
Select item 1295882	NM_145861.4(EDARADD):c.62-127G>A	EDARADD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1255368	NM_145861.4(EDARADD):c.62-41A>G	EDARADD	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1295851	NM_145861.4(EDARADD):c.120+270T>G	EDARADD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287437	NM_145861.4(EDARADD):c.121-210T>C	EDARADD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1723797	NM_145861.4(EDARADD):c.148G>A (p.Glu50Lys)	EDARADD (E40K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1295767	NM_145861.4(EDARADD):c.160+162T>C	EDARADD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290224	NM_145861.4(EDARADD):c.160+163C>T	EDARADD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278018	NM_145861.4(EDARADD):c.160+169dup	EDARADD	Duplication (intron variant)	not provided	GBenign
Select item 1295803	NM_145861.4(EDARADD):c.160+201G>A	EDARADD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230978	NM_145861.4(EDARADD):c.160+247G>A	EDARADD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224591	NM_145861.4(EDARADD):c.161-195C>G	EDARADD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295875	NM_145861.4(EDARADD):c.161-129C>T	EDARADD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237172	NM_145861.4(EDARADD):c.161-63C>T	EDARADD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1255369	NM_145861.4(EDARADD):c.161-33G>C	EDARADD	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1293214	NM_145861.4(EDARADD):c.161-6del	EDARADD	Deletion (intron variant)	Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant +2 more	GBenign
Select item 280481	NM_145861.4(EDARADD):c.196C>T (p.Arg66Ter)	EDARADD (R66* +2 more)	Single nucleotide variant (nonsense)	Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive +1 more	GPathogenic
Select item 1222286	NM_145861.4(EDARADD):c.219+66T>G	EDARADD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295811	NM_145861.4(EDARADD):c.219+253T>A	EDARADD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248735	NM_145861.4(EDARADD):c.266-221C>T	EDARADD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247629	NM_145861.4(EDARADD):c.266-127C>T	EDARADD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 262601	NM_145861.4(EDARADD):c.308C>T (p.Ser103Phe)	EDARADD (S103F +2 more)	Single nucleotide variant (missense variant)	Hypohidrotic ectodermal dysplasia +4 more	GBenign/Likely benign
Select item 262602	NM_145861.4(EDARADD):c.369C>T (p.Asp123=)	EDARADD	Single nucleotide variant (synonymous variant)	Hypohidrotic ectodermal dysplasia +5 more	GBenign/Likely benign
Select item 452073	NM_145861.4(EDARADD):c.389A>G (p.Asp130Gly)	EDARADD (D130G +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 843361	NM_145861.4(EDARADD):c.392C>T (p.Pro131Leu)	EDARADD (P121L +2 more)	Single nucleotide variant (missense variant)	Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant +2 more	GConflicting classifications of pathogenicity
Select item 2507084	NM_145861.4(EDARADD):c.439G>A (p.Gly147Arg)	EDARADD (G137R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 296476	NM_145861.4(EDARADD):c.*1562T>C	EDARADD	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 296477	NM_145861.4(EDARADD):c.*1593G>T	EDARADD	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 296479	NM_145861.4(EDARADD):c.*1601C>G	EDARADD	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 296478	NM_145861.4(EDARADD):c.*1601C>A	EDARADD	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 874271	NM_145861.4(EDARADD):c.*1613T>C	EDARADD	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 296481	NM_145861.4(EDARADD):c.*1787C>T	EDARADD	Single nucleotide variant (3 prime UTR variant)	Hypohidrotic Ectodermal Dysplasia, Recessive +2 more	GBenign/Likely benign
Select item 1283741	NM_145861.4(EDARADD):c.*2078dup	EDARADD	Duplication (3 prime UTR variant)	not provided	GBenign
Select item 1270976	NM_145861.4(EDARADD):c.*2078del	EDARADD	Deletion (3 prime UTR variant)	not provided	GBenign
Select item 1258293	NM_145861.4(EDARADD):c.*2113G>A	EDARADD	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 253636	GRCh37/hg19 1q42.2-44(chr1:234050864-249213059)x3	ACTN2, ADSS2 +105 more	Copy number gain	See cases	GPathogenic

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Items: 46