ClinVar for MedGen (Select 854747) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2952572	NM_022336.4(EDAR):c.1218C>G (p.Tyr406Ter)	EDAR, RANBP2 (Y406*)	Single nucleotide variant (nonsense)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +1 more	GPathogenic
Select item 2952436	NM_022336.4(EDAR):c.931del (p.Glu311fs)	EDAR, RANBP2 (E311fs)	Deletion (frameshift variant)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +1 more	GPathogenic
Select item 2951719	NM_022336.4(EDAR):c.731-20A>G	EDAR, RANBP2	Single nucleotide variant (intron variant)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +1 more	GUncertain significance
Select item 2950142	NM_022336.4(EDAR):c.1280T>C (p.Leu427Ser)	EDAR, RANBP2 (L427S)	Single nucleotide variant (missense variant)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +1 more	GPathogenic
Select item 2949319	NM_022336.4(EDAR):c.1199G>C (p.Arg400Pro)	EDAR, RANBP2 (R400P)	Single nucleotide variant (missense variant)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +1 more	GUncertain significance
Select item 2948715	NM_022336.4(EDAR):c.1024+2T>C	EDAR, RANBP2	Single nucleotide variant (splice donor variant)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +1 more	GPathogenic
Select item 2948339	NM_022336.4(EDAR):c.155C>T (p.Pro52Leu)	EDAR, RANBP2 (P52L)	Single nucleotide variant (missense variant)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +1 more	GUncertain significance
Select item 2948164	NM_022336.4(EDAR):c.1018G>A (p.Val340Met)	EDAR, RANBP2 (V340M)	Single nucleotide variant (missense variant)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +1 more	GUncertain significance
Select item 2947943	NM_022336.4(EDAR):c.1135G>A (p.Glu379Lys)	EDAR, RANBP2 (E379K)	Single nucleotide variant (missense variant)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +1 more	GLikely pathogenic
Select item 2947031	NM_022336.4(EDAR):c.1174_1185del (p.Thr392_Met395del)	EDAR, RANBP2	Deletion (inframe_deletion)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +1 more	GUncertain significance
Select item 2946816	NM_022336.4(EDAR):c.641dup (p.Pro215fs)	EDAR, RANBP2 (P215fs)	Duplication (frameshift variant)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +1 more	GPathogenic
Select item 2946461	NM_022336.4(EDAR):c.357-18C>G	EDAR, RANBP2	Single nucleotide variant (intron variant)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +1 more	GBenign
Select item 2944544	NM_022336.4(EDAR):c.1221del (p.Ser407fs)	EDAR, RANBP2 (S407fs)	Deletion (frameshift variant)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +1 more	GPathogenic
Select item 2941351	NM_022336.4(EDAR):c.1264G>T (p.Asp422Tyr)	EDAR, RANBP2 (D422Y)	Single nucleotide variant (missense variant)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +1 more	GUncertain significance
Select item 2938400	NM_022336.4(EDAR):c.397A>C (p.Met133Leu)	EDAR, RANBP2 (M133L)	Single nucleotide variant (missense variant)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +1 more	GUncertain significance
Select item 2937813	NM_022336.4(EDAR):c.913C>T (p.Leu305=)	EDAR, RANBP2	Single nucleotide variant (synonymous variant)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +1 more	GLikely benign
Select item 2937812	NM_022336.4(EDAR):c.922C>T (p.Leu308=)	EDAR, RANBP2	Single nucleotide variant (synonymous variant)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +1 more	GLikely benign
Select item 2937739	NM_022336.4(EDAR):c.893C>G (p.Pro298Arg)	EDAR, RANBP2 (P298R)	Single nucleotide variant (missense variant)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +1 more	GUncertain significance
Select item 2936968	NM_022336.4(EDAR):c.102C>T (p.Asn34=)	EDAR, RANBP2	Single nucleotide variant (synonymous variant)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +1 more	GLikely benign
Select item 2936051	NM_022336.4(EDAR):c.964-16C>T	EDAR, RANBP2	Single nucleotide variant (intron variant)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +1 more	GLikely benign
Select item 2934038	NM_022336.4(EDAR):c.219C>G (p.Pro73=)	EDAR, RANBP2	Single nucleotide variant (synonymous variant)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +1 more	GLikely benign
Select item 2932792	NM_022336.4(EDAR):c.656-16C>A	EDAR, RANBP2	Single nucleotide variant (intron variant)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +1 more	GLikely benign
Select item 2928587	NM_022336.4(EDAR):c.911C>T (p.Ser304Leu)	EDAR, RANBP2 (S304L)	Single nucleotide variant (missense variant)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +1 more	GUncertain significance
Select item 2927109	NM_022336.4(EDAR):c.1246G>A (p.Val416Met)	EDAR, RANBP2 (V416M)	Single nucleotide variant (missense variant)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +1 more	GUncertain significance
Select item 2924833	NM_022336.4(EDAR):c.1025-14A>G	EDAR, RANBP2	Single nucleotide variant (intron variant)	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome +1 more	GLikely benign
Select item 2924829	NM_022336.4(EDAR):c.961G>A (p.Gly321Arg)	EDAR, RANBP2 (G321R)	Single nucleotide variant (missense variant)	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome +1 more	GUncertain significance
Select item 2923765	NM_022336.4(EDAR):c.146C>G (p.Pro49Arg)	EDAR, RANBP2 (P49R)	Single nucleotide variant (missense variant)	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome +1 more	GUncertain significance
Select item 2922788	NM_022336.4(EDAR):c.78G>A (p.Ala26=)	EDAR, RANBP2	Single nucleotide variant (synonymous variant)	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome +1 more	GLikely benign
Select item 2922761	NM_022336.4(EDAR):c.1205G>A (p.Ser402Asn)	EDAR, RANBP2 (S402N)	Single nucleotide variant (missense variant)	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome +1 more	GLikely pathogenic
Select item 2921735	NM_022336.4(EDAR):c.1128C>T (p.His376=)	EDAR, RANBP2	Single nucleotide variant (synonymous variant)	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome +1 more	GLikely benign
Select item 2442005	NM_022336.4(EDAR):c.1057C>T (p.Leu353Phe)	EDAR, RANBP2 (L353F)	Single nucleotide variant (missense variant)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +2 more	GUncertain significance
Select item 2426740	NC_000002.11:g.(?_108604612)_(109579739_?)del	CCDC138, EDAR +7 more	Deletion	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +1 more	GPathogenic
Select item 2203127	NM_022336.4(EDAR):c.73C>T (p.Arg25Ter)	EDAR, RANBP2 (R25*)	Single nucleotide variant (nonsense)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +1 more	GPathogenic
Select item 2194381	NM_022336.4(EDAR):c.850G>A (p.Val284Ile)	EDAR, RANBP2 (V284I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2120011	NM_022336.4(EDAR):c.442+5del	EDAR, RANBP2	Deletion (intron variant)	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome +1 more	GUncertain significance
Select item 2083388	NM_022336.4(EDAR):c.1024+16dup	EDAR, RANBP2	Duplication (intron variant)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +1 more	GBenign
Select item 2075534	NM_022336.4(EDAR):c.293G>A (p.Arg98Gln)	EDAR, RANBP2 (R98Q)	Single nucleotide variant (missense variant)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +1 more	GPathogenic
Select item 2052298	NM_022336.4(EDAR):c.1297G>T (p.Glu433Ter)	EDAR, RANBP2 (E433*)	Single nucleotide variant (nonsense)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +1 more	GPathogenic
Select item 2050192	NM_022336.4(EDAR):c.1105G>C (p.Ala369Pro)	RANBP2, EDAR (A369P)	Single nucleotide variant (missense variant)	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome +1 more	GBenign
Select item 2021435	NM_022336.4(EDAR):c.1208C>G (p.Thr403Arg)	EDAR, RANBP2 (T403R)	Single nucleotide variant (missense variant)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +1 more	GLikely pathogenic
Select item 2015099	NM_022336.4(EDAR):c.93C>G (p.Cys31Trp)	EDAR, RANBP2 (C31W)	Single nucleotide variant (missense variant)	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome +1 more	GUncertain significance
Select item 2013774	NM_022336.4(EDAR):c.259T>G (p.Cys87Gly)	RANBP2, EDAR (C87G)	Single nucleotide variant (missense variant)	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome +1 more	GUncertain significance
Select item 2012787	NM_022336.4(EDAR):c.1148T>C (p.Leu383Pro)	EDAR, RANBP2 (L383P)	Single nucleotide variant (missense variant)	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome +1 more	GUncertain significance
Select item 2011838	NM_022336.4(EDAR):c.202_203insGCTACGGCACCAAAGACGAAG (p.Glu67_Asp68insGlyTyrGlyThrLysAspGlu)	EDAR, RANBP2	Insertion (inframe_insertion)	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome +1 more	GUncertain significance
Select item 1984049	NM_022336.4(EDAR):c.857G>C (p.Ser286Thr)	EDAR, RANBP2 (S286T)	Single nucleotide variant (missense variant)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +1 more	GUncertain significance
Select item 1924735	NM_022336.4(EDAR):c.804-17C>T	EDAR, RANBP2	Single nucleotide variant (intron variant)	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome +1 more	GLikely benign
Select item 1721247	NM_022336.4(EDAR):c.1292T>C (p.Ile431Thr)	EDAR, RANBP2 (I431T)	Single nucleotide variant (missense variant)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +1 more	GPathogenic
Select item 1721078	NM_022336.4(EDAR):c.1280T>G (p.Leu427Trp)	EDAR, RANBP2 (L427W)	Single nucleotide variant (missense variant)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +1 more	GUncertain significance
Select item 1714868	NM_022336.4(EDAR):c.1282T>C (p.Cys428Arg)	EDAR, RANBP2 (C428R)	Single nucleotide variant (missense variant)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +1 more	GPathogenic
Select item 1702963	NM_022336.4(EDAR):c.1133C>T (p.Ala378Val)	EDAR, RANBP2 (A378V)	Single nucleotide variant (missense variant)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant	GUncertain significance
Select item 1594097	NM_022336.4(EDAR):c.708C>T (p.Asp236=)	EDAR, RANBP2	Single nucleotide variant (synonymous variant)	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome +1 more	GLikely benign
Select item 1523548	NM_022336.4(EDAR):c.569T>C (p.Ile190Thr)	EDAR, RANBP2 (I190T)	Single nucleotide variant (missense variant)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +1 more	GUncertain significance
Select item 1505874	NM_022336.4(EDAR):c.1000G>A (p.Ala334Thr)	EDAR, RANBP2 (A334T)	Single nucleotide variant (missense variant)	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome +1 more	GUncertain significance
Select item 1464912	NM_022336.4(EDAR):c.1293A>G (p.Ile431Met)	EDAR, RANBP2 (I431M)	Single nucleotide variant (missense variant)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +1 more	GLikely pathogenic
Select item 1452944	NM_022336.4(EDAR):c.1097_1098del (p.Asn365_Ser366insTer)	EDAR, RANBP2	Microsatellite (nonsense)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +1 more	GPathogenic
Select item 1420661	NM_022336.4(EDAR):c.1273G>A (p.Glu425Lys)	EDAR, RANBP2 (E425K)	Single nucleotide variant (missense variant)	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome +1 more	GUncertain significance
Select item 1401027	NM_022336.4(EDAR):c.1151_1154dup (p.Asp386fs)	EDAR, RANBP2 (D386fs)	Microsatellite (frameshift variant)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +1 more	GPathogenic
Select item 1397147	NM_022336.4(EDAR):c.141C>G (p.Cys47Trp)	EDAR, RANBP2 (C47W)	Single nucleotide variant (missense variant)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +1 more	GUncertain significance
Select item 1388925	NM_022336.4(EDAR):c.1264G>A (p.Asp422Asn)	RANBP2, EDAR (D422N)	Single nucleotide variant (missense variant)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +1 more	GUncertain significance
Select item 1350175	NM_022336.4(EDAR):c.826A>G (p.Asn276Asp)	EDAR, RANBP2 (N276D)	Single nucleotide variant (missense variant)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +1 more	GUncertain significance
Select item 1349613	NM_022336.4(EDAR):c.1094A>G (p.Asn365Ser)	EDAR, RANBP2 (N365S)	Single nucleotide variant (missense variant)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +1 more	GUncertain significance
Select item 1165348	NM_022336.4(EDAR):c.147G>A (p.Pro49=)	EDAR, RANBP2	Single nucleotide variant (synonymous variant)	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome +1 more	GBenign
Select item 1091263	NM_022336.4(EDAR):c.1059C>T (p.Leu353=)	EDAR, RANBP2	Single nucleotide variant (synonymous variant)	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome +1 more	GLikely benign
Select item 1075576	NM_022336.4(EDAR):c.964-1G>A	EDAR, RANBP2	Single nucleotide variant (splice acceptor variant)	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome +1 more	GPathogenic
Select item 1055751	NM_022336.4(EDAR):c.167C>G (p.Pro56Arg)	EDAR, RANBP2 (P56R)	Single nucleotide variant (missense variant)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +1 more	GUncertain significance
Select item 1049661	NM_022336.4(EDAR):c.94G>A (p.Gly32Ser)	EDAR, RANBP2 (G32S)	Single nucleotide variant (missense variant)	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome +1 more	GUncertain significance
Select item 1042627	NM_022336.4(EDAR):c.986T>G (p.Ile329Ser)	RANBP2, EDAR (I329S)	Single nucleotide variant (missense variant)	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome +1 more	GLikely pathogenic
Select item 1034708	NM_022336.4(EDAR):c.1213G>C (p.Gly405Arg)	EDAR, RANBP2 (G405R)	Single nucleotide variant (missense variant)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +1 more	GLikely pathogenic
Select item 1019176	NM_022336.4(EDAR):c.1270G>A (p.Val424Met)	EDAR, RANBP2 (V424M)	Single nucleotide variant (missense variant)	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome +1 more	GUncertain significance
Select item 1001812	NM_022336.4(EDAR):c.1006G>A (p.Val336Met)	EDAR, RANBP2 (V336M)	Single nucleotide variant (missense variant)	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome +2 more	GUncertain significance
Select item 999377	NM_022336.4(EDAR):c.991G>A (p.Asp331Asn)	EDAR, RANBP2 (D331N)	Single nucleotide variant (missense variant)	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome +1 more	GUncertain significance
Select item 972718	NM_022336.4(EDAR):c.287T>C (p.Phe96Ser)	EDAR, RANBP2 (F96S)	Single nucleotide variant (missense variant)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant	GLikely pathogenic
Select item 964896	NM_022336.4(EDAR):c.1156G>A (p.Asp386Asn)	RANBP2, EDAR (D386N)	Single nucleotide variant (missense variant)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +1 more	GUncertain significance
Select item 954560	NM_022336.4(EDAR):c.979A>T (p.Lys327Ter)	EDAR, RANBP2 (K327*)	Single nucleotide variant (nonsense)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +1 more	GPathogenic
Select item 951857	NM_022336.4(EDAR):c.1208C>T (p.Thr403Met)	EDAR, RANBP2 (T403M)	Single nucleotide variant (missense variant)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +1 more	GPathogenic
Select item 936912	NM_022336.4(EDAR):c.71C>A (p.Ala24Asp)	EDAR, RANBP2 (A24D)	Single nucleotide variant (missense variant)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +1 more	GUncertain significance
Select item 934620	NM_022336.4(EDAR):c.1214G>A (p.Gly405Asp)	EDAR, RANBP2 (G405D)	Single nucleotide variant (missense variant)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +1 more	GPathogenic
Select item 934574	NM_022336.4(EDAR):c.803+4T>G	EDAR, RANBP2	Single nucleotide variant (intron variant)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +1 more	GUncertain significance
Select item 893106	NM_022336.4(EDAR):c.731-4G>T	EDAR, RANBP2	Single nucleotide variant (intron variant)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +3 more	GLikely benign
Select item 862820	NM_022336.4(EDAR):c.802A>T (p.Ser268Cys)	EDAR, RANBP2 (S268C)	Single nucleotide variant (missense variant)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +2 more	GUncertain significance
Select item 859573	NM_022336.4(EDAR):c.1169del (p.Gly390fs)	EDAR, RANBP2 (G390fs)	Deletion (frameshift variant)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +1 more	GPathogenic
Select item 853527	NM_022336.4(EDAR):c.1214G>C (p.Gly405Ala)	EDAR, RANBP2 (G405A)	Single nucleotide variant (missense variant)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +1 more	GPathogenic
Select item 850904	NM_022336.4(EDAR):c.392A>G (p.Tyr131Cys)	EDAR, RANBP2 (Y131C)	Single nucleotide variant (missense variant)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +1 more	GUncertain significance
Select item 847026	NM_022336.4(EDAR):c.973C>T (p.Arg325Trp)	EDAR, RANBP2 (R325W)	Single nucleotide variant (missense variant)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +1 more	GLikely pathogenic
Select item 840729	NM_022336.4(EDAR):c.1130T>C (p.Leu377Pro)	EDAR, RANBP2 (L377P)	Single nucleotide variant (missense variant)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +1 more	GUncertain significance
Select item 840707	NM_022336.4(EDAR):c.575T>G (p.Met192Arg)	EDAR, RANBP2 (M192R)	Single nucleotide variant (missense variant)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +1 more	GUncertain significance
Select item 839010	NM_022336.4(EDAR):c.1038G>A (p.Thr346=)	EDAR, RANBP2	Single nucleotide variant (synonymous variant)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +1 more	GUncertain significance
Select item 798239	NM_022336.4(EDAR):c.227C>T (p.Ala76Val)	EDAR, RANBP2 (A76V)	Single nucleotide variant (missense variant)	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome +1 more	GLikely benign
Select item 759840	NM_022336.4(EDAR):c.360C>T (p.Tyr120=)	EDAR, RANBP2	Single nucleotide variant (synonymous variant)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +1 more	GLikely benign
Select item 707603	NM_022336.4(EDAR):c.1143C>T (p.Phe381=)	RANBP2, EDAR	Single nucleotide variant (synonymous variant)	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome +2 more	GBenign
Select item 706918	NM_022336.4(EDAR):c.1017C>T (p.Val339=)	EDAR, RANBP2	Single nucleotide variant (synonymous variant)	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome +2 more	GLikely benign
Select item 706526	NM_022336.4(EDAR):c.1179C>T (p.Asp393=)	EDAR, RANBP2	Single nucleotide variant (synonymous variant)	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome +2 more	GBenign
Select item 703304	NM_022336.4(EDAR):c.1305G>A (p.Ala435=)	EDAR, RANBP2	Single nucleotide variant (synonymous variant)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +1 more	GBenign
Select item 702817	NM_022336.4(EDAR):c.243A>G (p.Lys81=)	EDAR, RANBP2	Single nucleotide variant (synonymous variant)	EDAR-related condition +4 more	GBenign/Likely benign
Select item 702179	NM_022336.4(EDAR):c.736G>A (p.Val246Met)	RANBP2, EDAR (V246M)	Single nucleotide variant (missense variant)	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome +2 more	GBenign
Select item 658733	NM_022336.4(EDAR):c.122C>A (p.Thr41Lys)	RANBP2, EDAR (T41K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 657900	NC_000002.11:g.(?_109367964)_(109579739_?)dup	LOC129934529, RANBP2 +5 more	Duplication	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +1 more	GUncertain significance
Select item 657780	NM_022336.4(EDAR):c.1142T>C (p.Phe381Ser)	EDAR, RANBP2 (F381S)	Single nucleotide variant (missense variant)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +1 more	GUncertain significance
Select item 655229	NC_000002.11:g.(?_109336043)_(109579739_?)dup	CCDC138, EDAR +5 more	Duplication	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +2 more	GUncertain significance
Select item 650219	NM_022336.4(EDAR):c.1061AGA[1] (p.Lys355del)	EDAR, RANBP2 (K355del)	Microsatellite (inframe_deletion)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +1 more	GUncertain significance

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