ClinVar for MedGen (Select 854356) - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065509	NM_022336.4(EDAR):c.545del (p.Gly182fs)	EDAR, RANBP2 (G182fs)	Deletion (frameshift variant)	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive	GLikely pathogenic
Select item 2442005	NM_022336.4(EDAR):c.1057C>T (p.Leu353Phe)	EDAR, RANBP2 (L353F)	Single nucleotide variant (missense variant)	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome +2 more	GUncertain significance
Select item 998077	NM_022336.4(EDAR):c.442T>C (p.Cys148Arg)	EDAR, RANBP2 (C148R)	Single nucleotide variant (missense variant)	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive	GLikely pathogenic
Select item 996823	NM_022336.4(EDAR):c.204del (p.Tyr69fs)	EDAR, RANBP2 (Y69fs)	Deletion (frameshift variant)	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive	GPathogenic
Select item 877063	NM_145861.4(EDARADD):c.*1072C>T	EDARADD	Single nucleotide variant (3 prime UTR variant)	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive	GUncertain significance
Select item 875207	NM_145861.4(EDARADD):c.*1962C>T	EDARADD	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 875147	NM_145861.4(EDARADD):c.*558C>T	EDARADD	Single nucleotide variant (3 prime UTR variant)	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive	GUncertain significance
Select item 828108	NM_022336.4(EDAR):c.93C>A (p.Cys31Ter)	EDAR, RANBP2 (C31*)	Single nucleotide variant (nonsense)	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive	GPathogenic
Select item 657900	NC_000002.11:g.(?_109367964)_(109579739_?)dup	CCDC138, EDAR +5 more	Duplication	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +1 more	GUncertain significance
Select item 655229	NC_000002.11:g.(?_109336043)_(109579739_?)dup	LOC129388898, LOC129934529 +5 more	Duplication	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +2 more	GUncertain significance
Select item 641915	NM_022336.4(EDAR):c.328G>A (p.Asp110Asn)	EDAR, RANBP2 (D110N)	Single nucleotide variant (missense variant)	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive +2 more	GUncertain significance
Select item 633839	NM_022336.4(EDAR):c.1300T>G (p.Trp434Gly)	EDAR, RANBP2 (W434G)	Single nucleotide variant (missense variant)	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive	GPathogenic
Select item 633838	NM_022336.4(EDAR):c.207delinsTT (p.Gly70fs)	EDAR, RANBP2 (G70fs)	Indel (frameshift variant)	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive	GPathogenic
Select item 532549	NM_022336.4(EDAR):c.292C>T (p.Arg98Trp)	EDAR, RANBP2 (R98W)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 522911	NM_022336.4(EDAR):c.278G>C (p.Cys93Ser)	EDAR, RANBP2 (C93S)	Single nucleotide variant (missense variant)	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive	GPathogenic
Select item 463881	NM_022336.4(EDAR):c.723G>A (p.Glu241=)	EDAR, RANBP2	Single nucleotide variant (synonymous variant)	Hypohidrotic ectodermal dysplasia +5 more	GBenign/Likely benign
Select item 296464	NM_145861.4(EDARADD):c.*682G>A	EDARADD	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 296463	NM_145861.4(EDARADD):c.*678A>C	EDARADD	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 261574	NM_022336.4(EDAR):c.870C>T (p.Pro290=)	EDAR, RANBP2	Single nucleotide variant (synonymous variant)	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive +6 more	GBenign/Likely benign
Select item 155870	NM_022336.4(EDAR):c.750C>T (p.Ser250=)	EDAR, RANBP2	Single nucleotide variant (synonymous variant)	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome +6 more	GBenign
Select item 155867	NM_022336.4(EDAR):c.655+30T>C	EDAR, RANBP2	Single nucleotide variant (intron variant)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +2 more	GBenign
Select item 155865	NM_022336.4(EDAR):c.1056C>T (p.Cys352=)	EDAR, RANBP2	Single nucleotide variant (synonymous variant)	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive +6 more	GBenign
Select item 155864	NM_022336.4(EDAR):c.1024+44C>T	EDAR, RANBP2	Single nucleotide variant (intron variant)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +2 more	GBenign
Select item 155862	NM_022336.4(EDAR):c.*42G>T	EDAR, RANBP2	Single nucleotide variant (3 prime UTR variant)	Hypohidrotic Ectodermal Dysplasia, Dominant +4 more	GBenign
Select item 5860	NM_022336.4(EDAR):c.803+1G>A	EDAR, RANBP2	Single nucleotide variant (splice donor variant)	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive	GPathogenic
Select item 5859	NM_022336.4(EDAR):c.719_722del (p.Lys240fs)	EDAR, RANBP2 (K240fs)	Microsatellite (frameshift variant)	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive	GPathogenic/Likely pathogenic
Select item 5858	NM_022336.4(EDAR):c.1109T>C (p.Val370Ala)	EDAR, RANBP2 (V370A)	Single nucleotide variant (missense variant)	Hypohidrotic Ectodermal Dysplasia, Dominant +6 more	GBenign
Select item 5856	NM_022336.4(EDAR):c.329A>C (p.Asp110Ala)	EDAR, RANBP2 (D110A)	Single nucleotide variant (missense variant)	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive	GPathogenic
Select item 5855	NM_022336.4(EDAR):c.1124G>A (p.Arg375His)	EDAR, RANBP2 (R375H)	Single nucleotide variant (missense variant)	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive	GPathogenic
Select item 5854	NM_022336.4(EDAR):c.51+1G>A	EDAR, RANBP2	Single nucleotide variant (splice donor variant)	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive	GPathogenic
Select item 5851	NM_022336.4(EDAR):c.259T>C (p.Cys87Arg)	EDAR, RANBP2 (C87R)	Single nucleotide variant (missense variant)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +2 more	GUncertain significance
Select item 5850	NC_000002.12:g.(?_108894471)_(108989220_?)del	EDAR, LOC126806303 +2 more	Deletion	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive	GPathogenic
Select item 5849	NM_022336.4(EDAR):c.266G>A (p.Arg89His)	EDAR, RANBP2 (R89H)	Single nucleotide variant (missense variant)	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome +1 more	GPathogenic
Select item 5848	NM_022336.4(EDAR):c.52-25_52-8del	EDAR, RANBP2	Deletion (intron variant)	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive	GPathogenic

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Items: 34