ClinVar for MedGen (Select 310309) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 8945651.	NM_022336.4(EDAR):c.-71C>G GRCh37: Chr2:109605468 GRCh38: Chr2:108989012	EDAR, RANBP2		Hypohidrotic ectodermal dysplasia	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 8945642.	NM_022336.4(EDAR):c.-18-14C>T GRCh37: Chr2:109547502 GRCh38: Chr2:108931046	RANBP2, EDAR		Hypohidrotic ectodermal dysplasia	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 8945303.	NM_022336.4(EDAR):c.849C>A (p.Ser283Arg) GRCh37: Chr2:109524430 GRCh38: Chr2:108907974	EDAR, RANBP2	S283R	Hypohidrotic ectodermal dysplasia	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 8945294.	NM_022336.4(EDAR):c.849C>T (p.Ser283=) GRCh37: Chr2:109524430 GRCh38: Chr2:108907974	RANBP2, EDAR		Hypohidrotic ectodermal dysplasia	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 8945285.	NM_022336.4(EDAR):c.1029T>C (p.Leu343=) GRCh37: Chr2:109513681 GRCh38: Chr2:108897225	EDAR, RANBP2		Hypohidrotic ectodermal dysplasia	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 8944926.	NM_022336.4(EDAR):c.*791A>T GRCh37: Chr2:109512572 GRCh38: Chr2:108896116	RANBP2, EDAR		Hypohidrotic ectodermal dysplasia	Uncertain significance (Mar 23, 2018)	criteria provided, single submitter
Select item 8944917.	NM_022336.4(EDAR):c.*867A>G GRCh37: Chr2:109512496 GRCh38: Chr2:108896040	EDAR, RANBP2		Hypohidrotic ectodermal dysplasia	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 8944908.	NM_022336.4(EDAR):c.*976A>G GRCh37: Chr2:109512387 GRCh38: Chr2:108895931	EDAR, RANBP2		Hypohidrotic ectodermal dysplasia	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 8944579.	NM_022336.4(EDAR):c.*2016G>C GRCh37: Chr2:109511347 GRCh38: Chr2:108894891	EDAR, RANBP2		Hypohidrotic ectodermal dysplasia	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89445610.	NM_022336.4(EDAR):c.*2078T>C GRCh37: Chr2:109511285 GRCh38: Chr2:108894829	RANBP2, EDAR		Hypohidrotic ectodermal dysplasia	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 89445511.	NM_022336.4(EDAR):c.*2141T>C GRCh37: Chr2:109511222 GRCh38: Chr2:108894766	EDAR, RANBP2		Hypohidrotic ectodermal dysplasia	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 89445412.	NM_022336.4(EDAR):c.*2189G>T GRCh37: Chr2:109511174 GRCh38: Chr2:108894718	EDAR, RANBP2		Hypohidrotic ectodermal dysplasia	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89445313.	NM_022336.4(EDAR):c.*2376T>C GRCh37: Chr2:109510987 GRCh38: Chr2:108894531	EDAR, RANBP2		Hypohidrotic ectodermal dysplasia	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89415714.	NM_022336.4(EDAR):c.156G>A (p.Pro52=) GRCh37: Chr2:109546594 GRCh38: Chr2:108930138	EDAR, RANBP2		Hypohidrotic ectodermal dysplasia	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 89415615.	NM_022336.4(EDAR):c.208G>A (p.Gly70Ser) GRCh37: Chr2:109545802 GRCh38: Chr2:108929346	EDAR, RANBP2	G70S	Hypohidrotic ectodermal dysplasia	Uncertain significance (Mar 23, 2018)	criteria provided, single submitter
Select item 89409816.	NM_022336.4(EDAR):c.*1108G>A GRCh37: Chr2:109512255 GRCh38: Chr2:108895799	EDAR, RANBP2		Hypohidrotic ectodermal dysplasia	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89409717.	NM_022336.4(EDAR):c.*1133C>T GRCh37: Chr2:109512230 GRCh38: Chr2:108895774	EDAR, RANBP2		Hypohidrotic ectodermal dysplasia	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 89409618.	NM_022336.4(EDAR):c.*1199C>T GRCh37: Chr2:109512164 GRCh38: Chr2:108895708	RANBP2, EDAR		Hypohidrotic ectodermal dysplasia	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89331719.	NM_022336.4(EDAR):c.560C>T (p.Ala187Val) GRCh37: Chr2:109527498 GRCh38: Chr2:108911042	EDAR, RANBP2	A187V	Hypohidrotic ectodermal dysplasia	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89331620.	NM_022336.4(EDAR):c.606C>T (p.Ile202=) GRCh37: Chr2:109527452 GRCh38: Chr2:108910996	EDAR, RANBP2		Hypohidrotic ectodermal dysplasia	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89331521.	NM_022336.4(EDAR):c.675G>A (p.Pro225=) GRCh37: Chr2:109527287 GRCh38: Chr2:108910831	EDAR, RANBP2		Hypohidrotic ectodermal dysplasia	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 89327722.	NM_022336.4(EDAR):c.*191C>T GRCh37: Chr2:109513172 GRCh38: Chr2:108896716	EDAR, RANBP2		Hypohidrotic ectodermal dysplasia	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89327623.	NM_022336.4(EDAR):c.*242T>C GRCh37: Chr2:109513121 GRCh38: Chr2:108896665	EDAR, RANBP2		Hypohidrotic ectodermal dysplasia	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89327524.	NM_022336.4(EDAR):c.*254C>T GRCh37: Chr2:109513109 GRCh38: Chr2:108896653	EDAR, RANBP2		Hypohidrotic ectodermal dysplasia	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 89327425.	NM_022336.4(EDAR):c.*402G>A GRCh37: Chr2:109512961 GRCh38: Chr2:108896505	EDAR, RANBP2		Hypohidrotic ectodermal dysplasia	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89327326.	NM_022336.4(EDAR):c.*447T>C GRCh37: Chr2:109512916 GRCh38: Chr2:108896460	RANBP2, EDAR		Hypohidrotic ectodermal dysplasia	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89324627.	NM_022336.4(EDAR):c.*1298G>C GRCh37: Chr2:109512065 GRCh38: Chr2:108895609	EDAR, RANBP2		Hypohidrotic ectodermal dysplasia	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89324528.	NM_022336.4(EDAR):c.*1364T>G GRCh37: Chr2:109511999 GRCh38: Chr2:108895543	RANBP2, EDAR		Hypohidrotic ectodermal dysplasia	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 89324429.	NM_022336.4(EDAR):c.*1366A>G GRCh37: Chr2:109511997 GRCh38: Chr2:108895541	EDAR, RANBP2		Hypohidrotic ectodermal dysplasia	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 89324330.	NM_022336.4(EDAR):c.*1435G>A GRCh37: Chr2:109511928 GRCh38: Chr2:108895472	EDAR, RANBP2		Hypohidrotic ectodermal dysplasia	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89324231.	NM_022336.4(EDAR):c.*1563C>T GRCh37: Chr2:109511800 GRCh38: Chr2:108895344	EDAR, RANBP2		Hypohidrotic ectodermal dysplasia	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89314332.	NM_022336.4(EDAR):c.-256C>T GRCh37: Chr2:109605653 GRCh38: Chr2:108989197	EDAR, RANBP2		Hypohidrotic ectodermal dysplasia	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89310633.	NM_022336.4(EDAR):c.731-4G>T GRCh37: Chr2:109526992 GRCh38: Chr2:108910536	EDAR, RANBP2		Autosomal recessive hypohidrotic ectodermal dysplasia syndrome, Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, Hypohidrotic ectodermal dysplasia	Likely benign (Sep 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 89306934.	NM_022336.4(EDAR):c.*485C>T GRCh37: Chr2:109512878 GRCh38: Chr2:108896422	EDAR, RANBP2		Hypohidrotic ectodermal dysplasia	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89306835.	NM_022336.4(EDAR):c.*486G>A GRCh37: Chr2:109512877 GRCh38: Chr2:108896421	EDAR, RANBP2		Hypohidrotic ectodermal dysplasia	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89306736.	NM_022336.4(EDAR):c.*546C>T GRCh37: Chr2:109512817 GRCh38: Chr2:108896361	EDAR, RANBP2		Hypohidrotic ectodermal dysplasia	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89306637.	NM_022336.4(EDAR):c.*639T>G GRCh37: Chr2:109512724 GRCh38: Chr2:108896268	EDAR, RANBP2		Hypohidrotic ectodermal dysplasia	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89306538.	NM_022336.4(EDAR):c.*714T>G GRCh37: Chr2:109512649 GRCh38: Chr2:108896193	EDAR, RANBP2		Hypohidrotic ectodermal dysplasia	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89302939.	NM_022336.4(EDAR):c.*1647C>T GRCh37: Chr2:109511716 GRCh38: Chr2:108895260	EDAR, RANBP2		Hypohidrotic ectodermal dysplasia	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89302840.	NM_022336.4(EDAR):c.*1678C>T GRCh37: Chr2:109511685 GRCh38: Chr2:108895229	EDAR, RANBP2		Hypohidrotic ectodermal dysplasia	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 89302741.	NM_022336.4(EDAR):c.*1703G>A GRCh37: Chr2:109511660 GRCh38: Chr2:108895204	RANBP2, EDAR		Hypohidrotic ectodermal dysplasia	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89302642.	NM_022336.4(EDAR):c.*1710G>C GRCh37: Chr2:109511653 GRCh38: Chr2:108895197	EDAR, RANBP2		Hypohidrotic ectodermal dysplasia	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89302543.	NM_022336.4(EDAR):c.*1774G>A GRCh37: Chr2:109511589 GRCh38: Chr2:108895133	EDAR, RANBP2		Hypohidrotic ectodermal dysplasia	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 89302444.	NM_022336.4(EDAR):c.*1798G>C GRCh37: Chr2:109511565 GRCh38: Chr2:108895109	EDAR, RANBP2		Hypohidrotic ectodermal dysplasia	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87706745.	NM_145861.4(EDARADD):c.*1303T>G GRCh37: Chr1:236647252 GRCh38: Chr1:236483952	EDARADD		Hypohidrotic ectodermal dysplasia	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87706646.	NM_145861.4(EDARADD):c.*1262C>T GRCh37: Chr1:236647211 GRCh38: Chr1:236483911	EDARADD		Hypohidrotic ectodermal dysplasia	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87706547.	NM_145861.4(EDARADD):c.*1250C>T GRCh37: Chr1:236647199 GRCh38: Chr1:236483899	EDARADD		Hypohidrotic ectodermal dysplasia	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87706448.	NM_145861.4(EDARADD):c.*1174A>G GRCh37: Chr1:236647123 GRCh38: Chr1:236483823	EDARADD		Hypohidrotic ectodermal dysplasia	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 87706249.	NM_145861.4(EDARADD):c.*1012A>G GRCh37: Chr1:236646961 GRCh38: Chr1:236483661	EDARADD		Hypohidrotic ectodermal dysplasia	Uncertain significance (Jan 15, 2018)	criteria provided, single submitter
Select item 87616450.	NM_145861.4(EDARADD):c.*2008G>A GRCh37: Chr1:236647957 GRCh38: Chr1:236484657	EDARADD		Hypohidrotic ectodermal dysplasia	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87611151.	NM_145861.4(EDARADD):c.*1004G>A GRCh37: Chr1:236646953 GRCh38: Chr1:236483653	EDARADD		Hypohidrotic ectodermal dysplasia	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87611052.	NM_145861.4(EDARADD):c.*966A>G GRCh37: Chr1:236646915 GRCh38: Chr1:236483615	EDARADD		Hypohidrotic ectodermal dysplasia	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 87610953.	NM_145861.4(EDARADD):c.*956C>T GRCh37: Chr1:236646905 GRCh38: Chr1:236483605	EDARADD		Hypohidrotic ectodermal dysplasia	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 87610854.	NM_145861.4(EDARADD):c.*920C>T GRCh37: Chr1:236646869 GRCh38: Chr1:236483569	EDARADD		Hypohidrotic ectodermal dysplasia	Uncertain significance (Jan 22, 2018)	criteria provided, single submitter
Select item 87604955.	NM_145861.4(EDARADD):c.121-6C>G GRCh37: Chr1:236577554 GRCh38: Chr1:236414254	EDARADD		Hypohidrotic ectodermal dysplasia	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87604856.	NM_145861.4(EDARADD):c.120+7G>A GRCh37: Chr1:236572581 GRCh38: Chr1:236409281	EDARADD		Hypohidrotic ectodermal dysplasia, Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant, Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive	Benign (Jul 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 87520657.	NM_145861.4(EDARADD):c.*1788G>A GRCh37: Chr1:236647737 GRCh38: Chr1:236484437	EDARADD		Hypohidrotic ectodermal dysplasia	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87520558.	NM_145861.4(EDARADD):c.*1723G>A GRCh37: Chr1:236647672 GRCh38: Chr1:236484372	EDARADD		Hypohidrotic ectodermal dysplasia	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87514959.	NM_145861.4(EDARADD):c.*765G>A GRCh37: Chr1:236646714 GRCh38: Chr1:236483414	EDARADD		Hypohidrotic ectodermal dysplasia	Uncertain significance (Mar 2, 2018)	criteria provided, single submitter
Select item 87514860.	NM_145861.4(EDARADD):c.*757A>C GRCh37: Chr1:236646706 GRCh38: Chr1:236483406	EDARADD		Hypohidrotic ectodermal dysplasia	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87427261.	NM_145861.4(EDARADD):c.*1722C>T GRCh37: Chr1:236647671 GRCh38: Chr1:236484371	EDARADD		Hypohidrotic ectodermal dysplasia	Benign (Mar 6, 2018)	criteria provided, single submitter
Select item 87427162.	NM_145861.4(EDARADD):c.*1613T>C GRCh37: Chr1:236647562 GRCh38: Chr1:236484262	EDARADD		not provided, Hypohidrotic ectodermal dysplasia	Benign (May 11, 2021)	criteria provided, multiple submitters, no conflicts
Select item 87422663.	NM_145861.4(EDARADD):c.*12T>C GRCh37: Chr1:236645961 GRCh38: Chr1:236482661	EDARADD		Hypohidrotic ectodermal dysplasia	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 86282064.	NM_022336.4(EDAR):c.802A>T (p.Ser268Cys) GRCh37: Chr2:109526917 GRCh38: Chr2:108910461	EDAR, RANBP2	S268C	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome, Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, Hypohidrotic ectodermal dysplasia	Uncertain significance (Aug 26, 2021)	criteria provided, multiple submitters, no conflicts
Select item 70691865.	NM_022336.4(EDAR):c.1017C>T (p.Val339=) GRCh37: Chr2:109522771 GRCh38: Chr2:108906315	RANBP2, EDAR		Hypohidrotic ectodermal dysplasia, Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, Autosomal recessive hypohidrotic ectodermal dysplasia syndrome	Likely benign (May 10, 2018)	criteria provided, multiple submitters, no conflicts
Select item 70652666.	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 70281767.	NM_022336.4(EDAR):c.243A>G (p.Lys81=) GRCh37: Chr2:109545767 GRCh38: Chr2:108929311	EDAR, RANBP2		Hypohidrotic ectodermal dysplasia, Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, Autosomal recessive hypohidrotic ectodermal dysplasia syndrome, not provided	Benign/Likely benign (Mar 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 70217968.	NM_022336.4(EDAR):c.736G>A (p.Val246Met) GRCh37: Chr2:109526983 GRCh38: Chr2:108910527	EDAR, RANBP2	V246M	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome, Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, Hypohidrotic ectodermal dysplasia	Benign (Aug 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 54029469.	NM_145861.4(EDARADD):c.393G>A (p.Pro131=) GRCh37: Chr1:236645694 GRCh38: Chr1:236482394	EDARADD		Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant, Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive, Hypohidrotic ectodermal dysplasia	Benign (Oct 4, 2020)	criteria provided, multiple submitters, no conflicts
Select item 46388270.	NM_022336.4(EDAR):c.813T>C (p.Asp271=) GRCh37: Chr2:109524466 GRCh38: Chr2:108908010	EDAR, RANBP2		Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, Autosomal recessive hypohidrotic ectodermal dysplasia syndrome, Hypohidrotic ectodermal dysplasia, not provided	Benign (Oct 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 46388171.	NM_022336.4(EDAR):c.723G>A (p.Glu241=) GRCh37: Chr2:109527239 GRCh38: Chr2:108910783	EDAR, RANBP2		Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, Autosomal recessive hypohidrotic ectodermal dysplasia syndrome, not provided, Hypohidrotic ectodermal dysplasia, Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, Hair morphology 1, Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive	Benign/Likely benign (Oct 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 33071972.	NM_022336.4(EDAR):c.-238C>T GRCh37: Chr2:109605635 GRCh38: Chr2:108989179	RANBP2, EDAR		Hypohidrotic Ectodermal Dysplasia, Dominant, Hypohidrotic ectodermal dysplasia	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 33071873.	NM_022336.4(EDAR):c.-235G>A GRCh37: Chr2:109605632 GRCh38: Chr2:108989176	EDAR, RANBP2		Hypohidrotic Ectodermal Dysplasia, Dominant, Hypohidrotic ectodermal dysplasia	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 33071774.	NM_022336.4(EDAR):c.-226T>C GRCh37: Chr2:109605623 GRCh38: Chr2:108989167	EDAR, RANBP2		Hypohidrotic Ectodermal Dysplasia, Dominant, Hypohidrotic ectodermal dysplasia	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33071675.	NM_022336.4(EDAR):c.-189T>C GRCh37: Chr2:109605586 GRCh38: Chr2:108989130	EDAR, RANBP2		Hypohidrotic Ectodermal Dysplasia, Dominant, Hypohidrotic ectodermal dysplasia	Conflicting interpretations of pathogenicity (Jan 13, 2018)	criteria provided, conflicting interpretations
Select item 33071576.	NM_022336.4(EDAR):c.-129G>T GRCh37: Chr2:109605526 GRCh38: Chr2:108989070	EDAR, RANBP2		Hypohidrotic Ectodermal Dysplasia, Dominant, Hypohidrotic ectodermal dysplasia	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33071477.	NM_022336.4(EDAR):c.-30A>C GRCh37: Chr2:109605427 GRCh38: Chr2:108988971	EDAR, RANBP2		Hypohidrotic Ectodermal Dysplasia, Dominant, Hypohidrotic ectodermal dysplasia	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 33071378.	NM_022336.4(EDAR):c.-4G>A GRCh37: Chr2:109547474 GRCh38: Chr2:108931018	EDAR, RANBP2		Hypohidrotic Ectodermal Dysplasia, Dominant, Hypohidrotic ectodermal dysplasia	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 33071279.	NM_022336.4(EDAR):c.68C>T (p.Ser23Leu) GRCh37: Chr2:109546682 GRCh38: Chr2:108930226	EDAR, RANBP2	S23L	Inborn genetic diseases, Hypohidrotic Ectodermal Dysplasia, Dominant, Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, Autosomal recessive hypohidrotic ectodermal dysplasia syndrome, Hypohidrotic ectodermal dysplasia	Conflicting interpretations of pathogenicity (Jul 27, 2022)	criteria provided, conflicting interpretations
Select item 33071180.	NM_022336.4(EDAR):c.146C>T (p.Pro49Leu) GRCh37: Chr2:109546604 GRCh38: Chr2:108930148	EDAR, RANBP2	P49L	Inborn genetic diseases, Hypohidrotic Ectodermal Dysplasia, Dominant, Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, Autosomal recessive hypohidrotic ectodermal dysplasia syndrome, Hypohidrotic ectodermal dysplasia	Conflicting interpretations of pathogenicity (Feb 28, 2023)	criteria provided, conflicting interpretations
Select item 33071081.	NM_022336.4(EDAR):c.186C>T (p.Tyr62=) GRCh37: Chr2:109545824 GRCh38: Chr2:108929368	RANBP2, EDAR		Hypohidrotic Ectodermal Dysplasia, Dominant, Hypohidrotic ectodermal dysplasia	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33070982.	NM_022336.4(EDAR):c.607G>A (p.Val203Ile) GRCh37: Chr2:109527451 GRCh38: Chr2:108910995	EDAR, RANBP2	V203I	Hypohidrotic Ectodermal Dysplasia, Dominant, Hypohidrotic ectodermal dysplasia, Inborn genetic diseases, not provided	Uncertain significance (Oct 20, 2021)	criteria provided, multiple submitters, no conflicts
Select item 33070883.	NM_022336.4(EDAR):c.674C>T (p.Pro225Leu) GRCh37: Chr2:109527288 GRCh38: Chr2:108910832	EDAR, RANBP2	P225L	Hypohidrotic Ectodermal Dysplasia, Dominant, Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, Autosomal recessive hypohidrotic ectodermal dysplasia syndrome, Hypohidrotic ectodermal dysplasia	Uncertain significance (Aug 24, 2021)	criteria provided, multiple submitters, no conflicts
Select item 33070784.	NM_022336.4(EDAR):c.844C>T (p.Arg282Trp) GRCh37: Chr2:109524435 GRCh38: Chr2:108907979	EDAR, RANBP2	R282W	Hypohidrotic Ectodermal Dysplasia, Dominant, Hypohidrotic ectodermal dysplasia	Conflicting interpretations of pathogenicity (Jan 13, 2018)	criteria provided, conflicting interpretations
Select item 33070685.	NM_022336.4(EDAR):c.1183A>G (p.Met395Val) GRCh37: Chr2:109513527 GRCh38: Chr2:108897071	EDAR, RANBP2	M395V	Hypohidrotic Ectodermal Dysplasia, Dominant, Hypohidrotic ectodermal dysplasia	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 33070586.	NM_022336.4(EDAR):c.1288G>A (p.Asp430Asn) GRCh37: Chr2:109513422 GRCh38: Chr2:108896966	RANBP2, EDAR	D430N	Hypohidrotic Ectodermal Dysplasia, Dominant, Hypohidrotic ectodermal dysplasia	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 33070487.	NM_022336.4(EDAR):c.*188G>C GRCh37: Chr2:109513175 GRCh38: Chr2:108896719	EDAR, RANBP2		Hypohidrotic Ectodermal Dysplasia, Dominant, Hypohidrotic ectodermal dysplasia	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33070388.	NM_022336.4(EDAR):c.*328G>A GRCh37: Chr2:109513035 GRCh38: Chr2:108896579	RANBP2, EDAR		Hypohidrotic Ectodermal Dysplasia, Dominant, Hypohidrotic ectodermal dysplasia	Benign/Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 33070289.	NM_022336.4(EDAR):c.*499C>T GRCh37: Chr2:109512864 GRCh38: Chr2:108896408	EDAR, RANBP2		Hypohidrotic Ectodermal Dysplasia, Dominant, Hypohidrotic ectodermal dysplasia	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33070190.	NM_022336.4(EDAR):c.*602T>A GRCh37: Chr2:109512761 GRCh38: Chr2:108896305	EDAR, RANBP2		Hypohidrotic Ectodermal Dysplasia, Dominant, Hypohidrotic ectodermal dysplasia	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33070091.	NM_022336.4(EDAR):c.*625C>A GRCh37: Chr2:109512738 GRCh38: Chr2:108896282	EDAR, RANBP2		Hypohidrotic Ectodermal Dysplasia, Dominant, Hypohidrotic ectodermal dysplasia	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33069992.	NM_022336.4(EDAR):c.*757T>C GRCh37: Chr2:109512606 GRCh38: Chr2:108896150	EDAR, RANBP2		Hypohidrotic Ectodermal Dysplasia, Dominant, Hypohidrotic ectodermal dysplasia	Benign/Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 33069893.	NM_022336.4(EDAR):c.*895C>T GRCh37: Chr2:109512468 GRCh38: Chr2:108896012	EDAR, RANBP2		Hypohidrotic Ectodermal Dysplasia, Dominant, Hypohidrotic ectodermal dysplasia	Benign/Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 33069794.	NM_022336.4(EDAR):c.*935C>T GRCh37: Chr2:109512428 GRCh38: Chr2:108895972	EDAR, RANBP2		Hypohidrotic Ectodermal Dysplasia, Dominant, Hypohidrotic ectodermal dysplasia	Benign/Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 33069695.	NM_022336.4(EDAR):c.*999C>T GRCh37: Chr2:109512364 GRCh38: Chr2:108895908	EDAR, RANBP2		Hypohidrotic Ectodermal Dysplasia, Dominant, Hypohidrotic ectodermal dysplasia	Benign/Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 33069596.	NM_022336.4(EDAR):c.*1107C>T GRCh37: Chr2:109512256 GRCh38: Chr2:108895800	EDAR, RANBP2		Hypohidrotic Ectodermal Dysplasia, Dominant, Hypohidrotic ectodermal dysplasia	Benign/Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 33069497.	NM_022336.4(EDAR):c.*1129A>G GRCh37: Chr2:109512234 GRCh38: Chr2:108895778	EDAR, RANBP2		Hypohidrotic Ectodermal Dysplasia, Dominant, Hypohidrotic ectodermal dysplasia	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 33069398.	NM_022336.4(EDAR):c.*1181C>T GRCh37: Chr2:109512182 GRCh38: Chr2:108895726	EDAR, RANBP2		Hypohidrotic Ectodermal Dysplasia, Dominant, Hypohidrotic ectodermal dysplasia	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33069299.	NM_022336.4(EDAR):c.*1226A>C GRCh37: Chr2:109512137 GRCh38: Chr2:108895681	EDAR, RANBP2		Hypohidrotic Ectodermal Dysplasia, Dominant, Hypohidrotic ectodermal dysplasia	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 330691100.	NM_022336.4(EDAR):c.*1248G>T GRCh37: Chr2:109512115 GRCh38: Chr2:108895659	EDAR, RANBP2		Hypohidrotic Ectodermal Dysplasia, Dominant, Hypohidrotic ectodermal dysplasia	Benign/Likely benign (Jan 13, 2018)	criteria provided, single submitter

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