ClinVar for MedGen (Select 854747) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24267401.	NC_000002.11:g.(?_108604612)_(109579739_?)del GRCh37: Chr2:108604612-109579739	SULT1C2, SLC5A7, LIMS1, RANBP2, CCDC138, SULT1C3, EDAR, GCC2, SULT1C4		Autosomal recessive hypohidrotic ectodermal dysplasia syndrome, Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant	Pathogenic (May 16, 2022)	criteria provided, single submitter
Select item 22031272.	NM_022336.4(EDAR):c.73C>T (p.Arg25Ter) GRCh37: Chr2:109546677 GRCh38: Chr2:108930221	EDAR, RANBP2	R25*	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, Autosomal recessive hypohidrotic ectodermal dysplasia syndrome	Pathogenic (Sep 15, 2022)	criteria provided, single submitter
Select item 21943813.	NM_022336.4(EDAR):c.850G>A (p.Val284Ile) GRCh37: Chr2:109524429 GRCh38: Chr2:108907973	EDAR, RANBP2	V284I	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome, Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, Inborn genetic diseases	Conflicting interpretations of pathogenicity (Jul 19, 2022)	criteria provided, conflicting interpretations
Select item 21200114.	NM_022336.4(EDAR):c.442+5del GRCh37: Chr2:109539819 GRCh38: Chr2:108923363	EDAR, RANBP2		Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, Autosomal recessive hypohidrotic ectodermal dysplasia syndrome	Uncertain significance (May 5, 2022)	criteria provided, single submitter
Select item 20833885.	NM_022336.4(EDAR):c.1024+16dup GRCh37: Chr2:109522747-109522748 GRCh38: Chr2:108906291-108906292	RANBP2, EDAR		Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, Autosomal recessive hypohidrotic ectodermal dysplasia syndrome	Benign (Aug 24, 2022)	criteria provided, single submitter
Select item 20755346.	NM_022336.4(EDAR):c.293G>A (p.Arg98Gln) GRCh37: Chr2:109545717 GRCh38: Chr2:108929261	EDAR, RANBP2	R98Q	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, Autosomal recessive hypohidrotic ectodermal dysplasia syndrome	Pathogenic (May 16, 2022)	criteria provided, single submitter
Select item 20522987.	NM_022336.4(EDAR):c.1297G>T (p.Glu433Ter) GRCh37: Chr2:109513413 GRCh38: Chr2:108896957	EDAR, RANBP2	E433*	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, Autosomal recessive hypohidrotic ectodermal dysplasia syndrome	Pathogenic (Feb 20, 2022)	criteria provided, single submitter
Select item 20501928.	NM_022336.4(EDAR):c.1105G>C (p.Ala369Pro) GRCh37: Chr2:109513605 GRCh38: Chr2:108897149	RANBP2, EDAR	A369P	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, Autosomal recessive hypohidrotic ectodermal dysplasia syndrome	Uncertain significance (Dec 23, 2021)	criteria provided, single submitter
Select item 20214359.	NM_022336.4(EDAR):c.1208C>G (p.Thr403Arg) GRCh37: Chr2:109513502 GRCh38: Chr2:108897046	EDAR, RANBP2	T403R	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, Autosomal recessive hypohidrotic ectodermal dysplasia syndrome	Likely pathogenic (Sep 23, 2022)	criteria provided, single submitter
Select item 201509910.	NM_022336.4(EDAR):c.93C>G (p.Cys31Trp) GRCh37: Chr2:109546657 GRCh38: Chr2:108930201	RANBP2, EDAR	C31W	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome, Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant	Uncertain significance (Sep 7, 2022)	criteria provided, single submitter
Select item 201377411.	NM_022336.4(EDAR):c.259T>G (p.Cys87Gly) GRCh37: Chr2:109545751 GRCh38: Chr2:108929295	EDAR, RANBP2	C87G	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, Autosomal recessive hypohidrotic ectodermal dysplasia syndrome	Uncertain significance (Jul 3, 2022)	criteria provided, single submitter
Select item 201278712.	NM_022336.4(EDAR):c.1148T>C (p.Leu383Pro) GRCh37: Chr2:109513562 GRCh38: Chr2:108897106	RANBP2, EDAR	L383P	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, Autosomal recessive hypohidrotic ectodermal dysplasia syndrome	Uncertain significance (Jul 1, 2022)	criteria provided, single submitter
Select item 201183813.	NM_022336.4(EDAR):c.202_203insGCTACGGCACCAAAGACGAAG (p.Glu67_Asp68insGlyTyrGlyThrLysAspGlu) GRCh37: Chr2:109545807-109545808 GRCh38: Chr2:108929351-108929352	RANBP2, EDAR		Autosomal recessive hypohidrotic ectodermal dysplasia syndrome, Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant	Uncertain significance (Jun 28, 2022)	criteria provided, single submitter
Select item 198404914.	NM_022336.4(EDAR):c.857G>C (p.Ser286Thr) GRCh37: Chr2:109524422 GRCh38: Chr2:108907966	RANBP2, EDAR	S286T	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, Autosomal recessive hypohidrotic ectodermal dysplasia syndrome	Uncertain significance (Oct 5, 2022)	criteria provided, single submitter
Select item 192473515.	NM_022336.4(EDAR):c.804-17C>T GRCh37: Chr2:109524492 GRCh38: Chr2:108908036	RANBP2, EDAR		Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, Autosomal recessive hypohidrotic ectodermal dysplasia syndrome	Likely benign (Aug 12, 2022)	criteria provided, single submitter
Select item 172124716.	NM_022336.4(EDAR):c.1292T>C (p.Ile431Thr) GRCh37: Chr2:109513418 GRCh38: Chr2:108896962	EDAR, RANBP2	I431T	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, Autosomal recessive hypohidrotic ectodermal dysplasia syndrome	Uncertain significance (Oct 8, 2022)	criteria provided, single submitter
Select item 172107817.	NM_022336.4(EDAR):c.1280T>G (p.Leu427Trp) GRCh37: Chr2:109513430 GRCh38: Chr2:108896974	EDAR, RANBP2	L427W	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, Autosomal recessive hypohidrotic ectodermal dysplasia syndrome	Uncertain significance (Oct 6, 2022)	criteria provided, single submitter
Select item 171486818.	NM_022336.4(EDAR):c.1282T>C (p.Cys428Arg) GRCh37: Chr2:109513428 GRCh38: Chr2:108896972	EDAR, RANBP2	C428R	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, Autosomal recessive hypohidrotic ectodermal dysplasia syndrome	Uncertain significance (Aug 3, 2022)	criteria provided, single submitter
Select item 170296319.	NM_022336.4(EDAR):c.1133C>T (p.Ala378Val) GRCh37: Chr2:109513577 GRCh38: Chr2:108897121	EDAR, RANBP2	A378V	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 159409720.	NM_022336.4(EDAR):c.708C>T (p.Asp236=) GRCh37: Chr2:109527254 GRCh38: Chr2:108910798	RANBP2, EDAR		Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, Autosomal recessive hypohidrotic ectodermal dysplasia syndrome	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 152354821.	NM_022336.4(EDAR):c.569T>C (p.Ile190Thr) GRCh37: Chr2:109527489 GRCh38: Chr2:108911033	EDAR, RANBP2	I190T	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, Autosomal recessive hypohidrotic ectodermal dysplasia syndrome	Uncertain significance (Dec 5, 2021)	criteria provided, single submitter
Select item 150587422.	NM_022336.4(EDAR):c.1000G>A (p.Ala334Thr) GRCh37: Chr2:109522788 GRCh38: Chr2:108906332	EDAR, RANBP2	A334T	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, Autosomal recessive hypohidrotic ectodermal dysplasia syndrome	Uncertain significance (Nov 23, 2021)	criteria provided, single submitter
Select item 146491223.	NM_022336.4(EDAR):c.1293A>G (p.Ile431Met) GRCh37: Chr2:109513417 GRCh38: Chr2:108896961	EDAR, RANBP2	I431M	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, Autosomal recessive hypohidrotic ectodermal dysplasia syndrome	Uncertain significance (Dec 13, 2021)	criteria provided, single submitter
Select item 145294424.	NM_022336.4(EDAR):c.1097_1098del (p.Asn365_Ser366insTer) GRCh37: Chr2:109513612-109513613 GRCh38: Chr2:108897156-108897157	EDAR, RANBP2		Autosomal recessive hypohidrotic ectodermal dysplasia syndrome, Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant	Pathogenic (Jul 22, 2021)	criteria provided, single submitter
Select item 142066125.	NM_022336.4(EDAR):c.1273G>A (p.Glu425Lys) GRCh37: Chr2:109513437 GRCh38: Chr2:108896981	EDAR, RANBP2	E425K	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, Autosomal recessive hypohidrotic ectodermal dysplasia syndrome	Uncertain significance (Sep 15, 2021)	criteria provided, single submitter
Select item 140102726.	NM_022336.4(EDAR):c.1151_1154dup (p.Asp386fs) GRCh37: Chr2:109513555-109513556 GRCh38: Chr2:108897099-108897100	EDAR, RANBP2	D386fs	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome, Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant	Pathogenic (Jul 15, 2021)	criteria provided, single submitter
Select item 139714727.	NM_022336.4(EDAR):c.141C>G (p.Cys47Trp) GRCh37: Chr2:109546609 GRCh38: Chr2:108930153	EDAR, RANBP2	C47W	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, Autosomal recessive hypohidrotic ectodermal dysplasia syndrome	Uncertain significance (Aug 14, 2021)	criteria provided, single submitter
Select item 138892528.	NM_022336.4(EDAR):c.1264G>A (p.Asp422Asn) GRCh37: Chr2:109513446 GRCh38: Chr2:108896990	EDAR, RANBP2	D422N	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome, Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant	Uncertain significance (Dec 23, 2021)	criteria provided, single submitter
Select item 135017529.	NM_022336.4(EDAR):c.826A>G (p.Asn276Asp) GRCh37: Chr2:109524453 GRCh38: Chr2:108907997	EDAR, RANBP2	N276D	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, Autosomal recessive hypohidrotic ectodermal dysplasia syndrome	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 134961330.	NM_022336.4(EDAR):c.1094A>G (p.Asn365Ser) GRCh37: Chr2:109513616 GRCh38: Chr2:108897160	EDAR, RANBP2	N365S	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome, Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant	Uncertain significance (Aug 26, 2021)	criteria provided, single submitter
Select item 116534831.	NM_022336.4(EDAR):c.147G>A (p.Pro49=) GRCh37: Chr2:109546603 GRCh38: Chr2:108930147	EDAR, RANBP2		Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, Autosomal recessive hypohidrotic ectodermal dysplasia syndrome	Benign (Jun 1, 2020)	criteria provided, single submitter
Select item 109126332.	NM_022336.4(EDAR):c.1059C>T (p.Leu353=) GRCh37: Chr2:109513651 GRCh38: Chr2:108897195	RANBP2, EDAR		Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, Autosomal recessive hypohidrotic ectodermal dysplasia syndrome	Likely benign (Aug 27, 2020)	criteria provided, single submitter
Select item 107557633.	NM_022336.4(EDAR):c.964-1G>A GRCh37: Chr2:109522825 GRCh38: Chr2:108906369	EDAR, RANBP2		Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, Autosomal recessive hypohidrotic ectodermal dysplasia syndrome	Pathogenic (Aug 28, 2021)	criteria provided, single submitter
Select item 105575134.	NM_022336.4(EDAR):c.167C>G (p.Pro56Arg) GRCh37: Chr2:109546583 GRCh38: Chr2:108930127	EDAR, RANBP2	P56R	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome, Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant	Uncertain significance (Aug 13, 2021)	criteria provided, single submitter
Select item 104966135.	NM_022336.4(EDAR):c.94G>A (p.Gly32Ser) GRCh37: Chr2:109546656 GRCh38: Chr2:108930200	EDAR, RANBP2	G32S	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, Autosomal recessive hypohidrotic ectodermal dysplasia syndrome	Uncertain significance (Sep 23, 2022)	criteria provided, single submitter
Select item 104262736.	NM_022336.4(EDAR):c.986T>G (p.Ile329Ser) GRCh37: Chr2:109522802 GRCh38: Chr2:108906346	RANBP2, EDAR	I329S	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome, Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant	Likely pathogenic (Mar 22, 2022)	criteria provided, single submitter
Select item 103470837.	NM_022336.4(EDAR):c.1213G>C (p.Gly405Arg) GRCh37: Chr2:109513497 GRCh38: Chr2:108897041	EDAR, RANBP2	G405R	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, Autosomal recessive hypohidrotic ectodermal dysplasia syndrome	Likely pathogenic (Oct 18, 2021)	criteria provided, single submitter
Select item 101917638.	NM_022336.4(EDAR):c.1270G>A (p.Val424Met) GRCh37: Chr2:109513440 GRCh38: Chr2:108896984	EDAR, RANBP2	V424M	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome, Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 100181239.	NM_022336.4(EDAR):c.1006G>A (p.Val336Met) GRCh37: Chr2:109522782 GRCh38: Chr2:108906326	RANBP2, EDAR	V336M	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome, Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, not provided	Uncertain significance (Nov 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 99937740.	NM_022336.4(EDAR):c.991G>A (p.Asp331Asn) GRCh37: Chr2:109522797 GRCh38: Chr2:108906341	EDAR, RANBP2	D331N	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome, Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant	Uncertain significance (Aug 26, 2021)	criteria provided, single submitter
Select item 97271841.	NM_022336.4(EDAR):c.287T>C (p.Phe96Ser) GRCh37: Chr2:109545723 GRCh38: Chr2:108929267	EDAR, RANBP2	F96S	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant	Likely pathogenic (Jun 1, 2020)	criteria provided, single submitter
Select item 96489642.	NM_022336.4(EDAR):c.1156G>A (p.Asp386Asn) GRCh37: Chr2:109513554 GRCh38: Chr2:108897098	EDAR, RANBP2	D386N	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, Autosomal recessive hypohidrotic ectodermal dysplasia syndrome	Uncertain significance (Aug 26, 2021)	criteria provided, single submitter
Select item 95456043.	NM_022336.4(EDAR):c.979A>T (p.Lys327Ter) GRCh37: Chr2:109522809 GRCh38: Chr2:108906353	EDAR, RANBP2	K327*	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, Autosomal recessive hypohidrotic ectodermal dysplasia syndrome	Pathogenic (Aug 31, 2021)	criteria provided, single submitter
Select item 95185744.	NM_022336.4(EDAR):c.1208C>T (p.Thr403Met) GRCh37: Chr2:109513502 GRCh38: Chr2:108897046	EDAR, RANBP2	T403M	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome, Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant	Pathogenic (Aug 27, 2021)	criteria provided, single submitter
Select item 93691245.	NM_022336.4(EDAR):c.71C>A (p.Ala24Asp) GRCh37: Chr2:109546679 GRCh38: Chr2:108930223	RANBP2, EDAR	A24D	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, Autosomal recessive hypohidrotic ectodermal dysplasia syndrome	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 93462046.	NM_022336.4(EDAR):c.1214G>A (p.Gly405Asp) GRCh37: Chr2:109513496 GRCh38: Chr2:108897040	EDAR, RANBP2	G405D	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, Autosomal recessive hypohidrotic ectodermal dysplasia syndrome	Pathogenic (Oct 18, 2021)	criteria provided, single submitter
Select item 93457447.	NM_022336.4(EDAR):c.803+4T>G GRCh37: Chr2:109526912 GRCh38: Chr2:108910456	EDAR, RANBP2		Autosomal recessive hypohidrotic ectodermal dysplasia syndrome, Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant	Uncertain significance (Aug 30, 2021)	criteria provided, single submitter
Select item 89310648.	NM_022336.4(EDAR):c.731-4G>T GRCh37: Chr2:109526992 GRCh38: Chr2:108910536	EDAR, RANBP2		Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, Autosomal recessive hypohidrotic ectodermal dysplasia syndrome, Hypohidrotic ectodermal dysplasia	Likely benign (Sep 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 86282049.	NM_022336.4(EDAR):c.802A>T (p.Ser268Cys) GRCh37: Chr2:109526917 GRCh38: Chr2:108910461	EDAR, RANBP2	S268C	Hypohidrotic ectodermal dysplasia, Autosomal recessive hypohidrotic ectodermal dysplasia syndrome, Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant	Uncertain significance (Aug 26, 2021)	criteria provided, multiple submitters, no conflicts
Select item 85957350.	NM_022336.4(EDAR):c.1169del (p.Gly390fs) GRCh37: Chr2:109513541 GRCh38: Chr2:108897085	EDAR, RANBP2	G390fs	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome, Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant	Pathogenic (Sep 1, 2021)	criteria provided, single submitter
Select item 85352751.	NM_022336.4(EDAR):c.1214G>C (p.Gly405Ala) GRCh37: Chr2:109513496 GRCh38: Chr2:108897040	EDAR, RANBP2	G405A	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, Autosomal recessive hypohidrotic ectodermal dysplasia syndrome	Pathogenic (Nov 8, 2021)	criteria provided, single submitter
Select item 85090452.	NM_022336.4(EDAR):c.392A>G (p.Tyr131Cys) GRCh37: Chr2:109539874 GRCh38: Chr2:108923418	EDAR, RANBP2	Y131C	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome, Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 84702653.	NM_022336.4(EDAR):c.973C>T (p.Arg325Trp) GRCh37: Chr2:109522815 GRCh38: Chr2:108906359	EDAR, RANBP2	R325W	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, Autosomal recessive hypohidrotic ectodermal dysplasia syndrome	Likely pathogenic (Oct 13, 2022)	criteria provided, single submitter
Select item 84072954.	NM_022336.4(EDAR):c.1130T>C (p.Leu377Pro) GRCh37: Chr2:109513580 GRCh38: Chr2:108897124	EDAR, RANBP2	L377P	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome, Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant	Uncertain significance (Aug 24, 2021)	criteria provided, single submitter
Select item 84070755.	NM_022336.4(EDAR):c.575T>G (p.Met192Arg) GRCh37: Chr2:109527483 GRCh38: Chr2:108911027	EDAR, RANBP2	M192R	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome, Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 83901056.	NM_022336.4(EDAR):c.1038G>A (p.Thr346=) GRCh37: Chr2:109513672 GRCh38: Chr2:108897216	RANBP2, EDAR		Autosomal recessive hypohidrotic ectodermal dysplasia syndrome, Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 79823957.	NM_022336.4(EDAR):c.227C>T (p.Ala76Val) GRCh37: Chr2:109545783 GRCh38: Chr2:108929327	EDAR, RANBP2	A76V	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, Autosomal recessive hypohidrotic ectodermal dysplasia syndrome	Likely benign (Jun 6, 2021)	criteria provided, single submitter
Select item 75984058.	NM_022336.4(EDAR):c.360C>T (p.Tyr120=) GRCh37: Chr2:109539906 GRCh38: Chr2:108923450	EDAR, RANBP2		Autosomal recessive hypohidrotic ectodermal dysplasia syndrome, Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant	Likely benign (May 10, 2018)	criteria provided, single submitter
Select item 70760359.	NM_022336.4(EDAR):c.1143C>T (p.Phe381=) GRCh37: Chr2:109513567 GRCh38: Chr2:108897111	EDAR, RANBP2		Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, Autosomal recessive hypohidrotic ectodermal dysplasia syndrome, Hypohidrotic Ectodermal Dysplasia, Dominant	Benign (Jan 4, 2021)	criteria provided, multiple submitters, no conflicts
Select item 70691860.	NM_022336.4(EDAR):c.1017C>T (p.Val339=) GRCh37: Chr2:109522771 GRCh38: Chr2:108906315	EDAR, RANBP2		Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, Autosomal recessive hypohidrotic ectodermal dysplasia syndrome, Hypohidrotic ectodermal dysplasia	Likely benign (May 10, 2018)	criteria provided, multiple submitters, no conflicts
Select item 70652661.	NM_022336.4(EDAR):c.1179C>T (p.Asp393=) GRCh37: Chr2:109513531 GRCh38: Chr2:108897075	EDAR, RANBP2		Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, Autosomal recessive hypohidrotic ectodermal dysplasia syndrome, Hypohidrotic ectodermal dysplasia	Benign (Jun 24, 2020)	criteria provided, multiple submitters, no conflicts
Select item 70330462.	NM_022336.4(EDAR):c.1305G>A (p.Ala435=) GRCh37: Chr2:109513405 GRCh38: Chr2:108896949	RANBP2, EDAR		Autosomal recessive hypohidrotic ectodermal dysplasia syndrome, Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant	Benign (Sep 27, 2022)	criteria provided, single submitter
Select item 70281763.	NM_022336.4(EDAR):c.243A>G (p.Lys81=) GRCh37: Chr2:109545767 GRCh38: Chr2:108929311	EDAR, RANBP2		Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, Autosomal recessive hypohidrotic ectodermal dysplasia syndrome, Hypohidrotic ectodermal dysplasia	Benign (Aug 29, 2019)	criteria provided, multiple submitters, no conflicts
Select item 70217964.	NM_022336.4(EDAR):c.736G>A (p.Val246Met) GRCh37: Chr2:109526983 GRCh38: Chr2:108910527	RANBP2, EDAR	V246M	Hypohidrotic ectodermal dysplasia, Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, Autosomal recessive hypohidrotic ectodermal dysplasia syndrome	Benign (Aug 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 65873365.	NM_022336.4(EDAR):c.122C>A (p.Thr41Lys) GRCh37: Chr2:109546628 GRCh38: Chr2:108930172	EDAR, RANBP2	T41K	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome, Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant	Uncertain significance (Aug 28, 2021)	criteria provided, single submitter
Select item 65790066.	NC_000002.11:g.(?_109367964)_(109579739_?)dup GRCh37: Chr2:109367964-109579739 GRCh38: Chr2:108751508-108963283	EDAR, CCDC138, LOC126806303, RANBP2		Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive	Uncertain significance (Sep 19, 2018)	criteria provided, single submitter
Select item 65778067.	NM_022336.4(EDAR):c.1142T>C (p.Phe381Ser) GRCh37: Chr2:109513568 GRCh38: Chr2:108897112	EDAR, RANBP2	F381S	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome, Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant	Uncertain significance (Aug 12, 2021)	criteria provided, single submitter
Select item 65522968.	NC_000002.11:g.(?_109336043)_(109579739_?)dup GRCh37: Chr2:109336043-109579739 GRCh38: Chr2:108719587-108963283	CCDC138, EDAR, LOC126806303, RANBP2		Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, Autosomal recessive hypohidrotic ectodermal dysplasia syndrome, Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive, Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant	Uncertain significance (Sep 16, 2021)	criteria provided, single submitter
Select item 65021969.	NM_022336.4(EDAR):c.1061AGA[1] (p.Lys355del) GRCh37: Chr2:109513644-109513646 GRCh38: Chr2:108897188-108897190	EDAR, RANBP2	K355del	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome, Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 64305870.	NM_022336.4(EDAR):c.1088del (p.Thr363fs) GRCh37: Chr2:109513622 GRCh38: Chr2:108897166	EDAR, RANBP2	T363fs	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, Autosomal recessive hypohidrotic ectodermal dysplasia syndrome	Pathogenic (Aug 31, 2021)	criteria provided, single submitter
Select item 64191571.	NM_022336.4(EDAR):c.328G>A (p.Asp110Asn) GRCh37: Chr2:109545682 GRCh38: Chr2:108929226	EDAR, RANBP2	D110N	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive, Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, not provided	Uncertain significance (Oct 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 63182372.	NM_022336.4(EDAR):c.108C>G (p.Tyr36Ter) GRCh37: Chr2:109546642 GRCh38: Chr2:108930186	EDAR, RANBP2	Y36*	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant	Uncertain significance (Oct 16, 2018)	criteria provided, single submitter
Select item 63182273.	NM_022336.4(EDAR):c.656-1G>A GRCh37: Chr2:109527307 GRCh38: Chr2:108910851	EDAR, RANBP2		Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant	Uncertain significance (May 3, 2017)	criteria provided, single submitter
Select item 57921174.	NM_022336.4(EDAR):c.1169dup (p.Met391fs) GRCh37: Chr2:109513540-109513541 GRCh38: Chr2:108897084-108897085	EDAR, RANBP2	M391fs	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, Autosomal recessive hypohidrotic ectodermal dysplasia syndrome	Pathogenic (Aug 31, 2021)	criteria provided, single submitter
Select item 57270175.	NM_022336.4(EDAR):c.175-2A>G GRCh37: Chr2:109545837 GRCh38: Chr2:108929381	EDAR, RANBP2		Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, Autosomal recessive hypohidrotic ectodermal dysplasia syndrome	Likely pathogenic (Nov 22, 2017)	criteria provided, single submitter
Select item 57026676.	NM_022336.4(EDAR):c.275A>G (p.Asp92Gly) GRCh37: Chr2:109545735 GRCh38: Chr2:108929279	RANBP2, EDAR	D92G	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, Autosomal recessive hypohidrotic ectodermal dysplasia syndrome	Uncertain significance (Sep 2, 2021)	criteria provided, single submitter
Select item 56914777.	NM_022336.4(EDAR):c.931G>T (p.Glu311Ter) GRCh37: Chr2:109524348 GRCh38: Chr2:108907892	RANBP2, EDAR	E311*	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome, Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant	Pathogenic (Aug 31, 2021)	criteria provided, single submitter
Select item 56696778.	NM_022336.4(EDAR):c.1089del (p.Tyr364fs) GRCh37: Chr2:109513621 GRCh38: Chr2:108897165	EDAR, RANBP2	Y364fs	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, Autosomal recessive hypohidrotic ectodermal dysplasia syndrome	Pathogenic (Jul 13, 2021)	criteria provided, single submitter
Select item 56201579.	NM_022336.4(EDAR):c.265C>T (p.Arg89Cys) GRCh37: Chr2:109545745 GRCh38: Chr2:108929289	EDAR, RANBP2	R89C	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome, Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant	Pathogenic (Jun 28, 2022)	criteria provided, single submitter
Select item 53255080.	NM_022336.4(EDAR):c.187G>A (p.Gly63Ser) GRCh37: Chr2:109545823 GRCh38: Chr2:108929367	EDAR, RANBP2	G63S	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, Autosomal recessive hypohidrotic ectodermal dysplasia syndrome	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 53254981.	NM_022336.4(EDAR):c.292C>T (p.Arg98Trp) GRCh37: Chr2:109545718 GRCh38: Chr2:108929262	RANBP2, EDAR	R98W	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, Autosomal recessive hypohidrotic ectodermal dysplasia syndrome, Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive, not provided	Pathogenic/Likely pathogenic (Aug 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 53254882.	NM_022336.4(EDAR):c.57T>A (p.Ser19=) GRCh37: Chr2:109546693 GRCh38: Chr2:108930237	EDAR, RANBP2		Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, Autosomal recessive hypohidrotic ectodermal dysplasia syndrome	Benign (Oct 21, 2022)	criteria provided, single submitter
Select item 53254783.	NM_022336.4(EDAR):c.1193_1194del (p.Leu397_Phe398insTer) GRCh37: Chr2:109513516-109513517 GRCh38: Chr2:108897060-108897061	RANBP2, EDAR		Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, Autosomal recessive hypohidrotic ectodermal dysplasia syndrome	Pathogenic (Nov 9, 2021)	criteria provided, single submitter
Select item 53254684.	NM_022336.4(EDAR):c.166C>T (p.Pro56Ser) GRCh37: Chr2:109546584 GRCh38: Chr2:108930128	RANBP2, EDAR	P56S	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, Autosomal recessive hypohidrotic ectodermal dysplasia syndrome	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 52214385.	NM_022336.4(EDAR):c.985A>T (p.Ile329Phe) GRCh37: Chr2:109522803 GRCh38: Chr2:108906347	EDAR, RANBP2	I329F	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome, Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, Inborn genetic diseases	Conflicting interpretations of pathogenicity (Jun 8, 2022)	criteria provided, conflicting interpretations
Select item 46388286.	NM_022336.4(EDAR):c.813T>C (p.Asp271=) GRCh37: Chr2:109524466 GRCh38: Chr2:108908010	EDAR, RANBP2		Hypohidrotic ectodermal dysplasia, Autosomal recessive hypohidrotic ectodermal dysplasia syndrome, Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, not provided	Benign (Oct 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 46388187.	NM_022336.4(EDAR):c.723G>A (p.Glu241=) GRCh37: Chr2:109527239 GRCh38: Chr2:108910783	EDAR, RANBP2		Hypohidrotic ectodermal dysplasia, Autosomal recessive hypohidrotic ectodermal dysplasia syndrome, Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive, Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, Hair morphology 1, not provided	Benign/Likely benign (Oct 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 46388088.	NM_022336.4(EDAR):c.43G>A (p.Val15Ile) GRCh37: Chr2:109547428 GRCh38: Chr2:108930972	RANBP2, EDAR	V15I	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, Autosomal recessive hypohidrotic ectodermal dysplasia syndrome, not provided	Conflicting interpretations of pathogenicity (Jul 27, 2022)	criteria provided, conflicting interpretations
Select item 46387989.	NM_022336.4(EDAR):c.1209G>A (p.Thr403=) GRCh37: Chr2:109513501 GRCh38: Chr2:108897045	EDAR, RANBP2		Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, Autosomal recessive hypohidrotic ectodermal dysplasia syndrome	Likely benign (Aug 14, 2020)	criteria provided, single submitter
Select item 46387890.	NM_022336.4(EDAR):c.1175C>T (p.Thr392Ile) GRCh37: Chr2:109513535 GRCh38: Chr2:108897079	EDAR, RANBP2	T392I	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, Autosomal recessive hypohidrotic ectodermal dysplasia syndrome	Uncertain significance (Aug 13, 2021)	criteria provided, single submitter
Select item 46387791.	NM_022336.4(EDAR):c.1163T>C (p.Ile388Thr) GRCh37: Chr2:109513547 GRCh38: Chr2:108897091	EDAR, RANBP2	I388T	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome, Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, not provided	Conflicting interpretations of pathogenicity (Sep 8, 2022)	criteria provided, conflicting interpretations
Select item 46387692.	NM_022336.4(EDAR):c.1132G>A (p.Ala378Thr) GRCh37: Chr2:109513578 GRCh38: Chr2:108897122	EDAR, RANBP2	A378T	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, Autosomal recessive hypohidrotic ectodermal dysplasia syndrome	Pathogenic (Oct 28, 2022)	criteria provided, single submitter
Select item 46387593.	NM_022336.4(EDAR):c.1119G>A (p.Thr373=) GRCh37: Chr2:109513591 GRCh38: Chr2:108897135	EDAR, RANBP2		Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, Autosomal recessive hypohidrotic ectodermal dysplasia syndrome	Likely benign (Mar 23, 2020)	criteria provided, single submitter
Select item 46387494.	NM_022336.4(EDAR):c.1024+1G>A GRCh37: Chr2:109522763 GRCh38: Chr2:108906307	EDAR, RANBP2		Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, Autosomal recessive hypohidrotic ectodermal dysplasia syndrome	Likely pathogenic (Aug 12, 2021)	criteria provided, single submitter
Select item 46387395.	NM_022336.4(EDAR):c.1017C>A (p.Val339=) GRCh37: Chr2:109522771 GRCh38: Chr2:108906315	EDAR, RANBP2		Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, Autosomal recessive hypohidrotic ectodermal dysplasia syndrome	Likely benign (Sep 5, 2019)	criteria provided, single submitter
Select item 44901496.	NM_022336.4(EDAR):c.903C>A (p.Cys301Ter) GRCh37: Chr2:109524376 GRCh38: Chr2:108907920	EDAR, RANBP2	C301*	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, Autosomal recessive hypohidrotic ectodermal dysplasia syndrome, not provided	Pathogenic (Jul 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 41793997.	NM_022336.4(EDAR):c.284del (p.Gly95fs) GRCh37: Chr2:109545726 GRCh38: Chr2:108929270	EDAR, RANBP2	G95fs	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant	Pathogenic (Dec 18, 2015)	no assertion criteria provided
Select item 33071298.	NM_022336.4(EDAR):c.68C>T (p.Ser23Leu) GRCh37: Chr2:109546682 GRCh38: Chr2:108930226	EDAR, RANBP2	S23L	Hypohidrotic ectodermal dysplasia, Inborn genetic diseases, Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, Autosomal recessive hypohidrotic ectodermal dysplasia syndrome, Hypohidrotic Ectodermal Dysplasia, Dominant	Conflicting interpretations of pathogenicity (Jul 27, 2022)	criteria provided, conflicting interpretations
Select item 33071199.	NM_022336.4(EDAR):c.146C>T (p.Pro49Leu) GRCh37: Chr2:109546604 GRCh38: Chr2:108930148	EDAR, RANBP2	P49L	Hypohidrotic ectodermal dysplasia, Inborn genetic diseases, Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, Autosomal recessive hypohidrotic ectodermal dysplasia syndrome, Hypohidrotic Ectodermal Dysplasia, Dominant	Conflicting interpretations of pathogenicity (Feb 28, 2023)	criteria provided, conflicting interpretations
Select item 330708100.	NM_022336.4(EDAR):c.674C>T (p.Pro225Leu) GRCh37: Chr2:109527288 GRCh38: Chr2:108910832	EDAR, RANBP2	P225L	Hypohidrotic ectodermal dysplasia, Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, Autosomal recessive hypohidrotic ectodermal dysplasia syndrome, Hypohidrotic Ectodermal Dysplasia, Dominant	Uncertain significance (Aug 24, 2021)	criteria provided, multiple submitters, no conflicts

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