ClinVar for MedGen (Select 462325) - ClinVar

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Items: 67

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 18031011.	NM_207034.3(EDN3):c.377C>G (p.Pro126Arg) GRCh37: Chr20:57896083 GRCh38: Chr20:59321028	EDN3	P126R	Hirschsprung disease, susceptibility to, 4	Uncertain significance (Jul 31, 2019)	criteria provided, single submitter
Select item 8987862.	NM_207034.3(EDN3):c.*1176C>T GRCh37: Chr20:57900690 GRCh38: Chr20:59325635	EDN3		Hirschsprung disease, susceptibility to, 4	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 8987853.	NM_207034.3(EDN3):c.*1123G>A GRCh37: Chr20:57900637 GRCh38: Chr20:59325582	EDN3		Hirschsprung disease, susceptibility to, 4	Uncertain significance (Mar 30, 2018)	criteria provided, single submitter
Select item 8987844.	NM_207034.3(EDN3):c.*963G>A GRCh37: Chr20:57900477 GRCh38: Chr20:59325422	EDN3		Hirschsprung disease, susceptibility to, 4	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 8987245.	NM_207034.3(EDN3):c.*144C>A GRCh37: Chr20:57899658 GRCh38: Chr20:59324603	EDN3		Hirschsprung disease, susceptibility to, 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 8987236.	NM_207034.3(EDN3):c.*143C>G GRCh37: Chr20:57899657 GRCh38: Chr20:59324602	EDN3		Hirschsprung disease, susceptibility to, 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 8976247.	NM_207034.3(EDN3):c.*916G>A GRCh37: Chr20:57900430 GRCh38: Chr20:59325375	EDN3		Hirschsprung disease, susceptibility to, 4	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 8976238.	NM_207034.3(EDN3):c.*757G>A GRCh37: Chr20:57900271 GRCh38: Chr20:59325216	EDN3		Hirschsprung disease, susceptibility to, 4	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 8975679.	NM_207034.3(EDN3):c.685C>T (p.Pro229Ser) GRCh37: Chr20:57899482 GRCh38: Chr20:59324427	EDN3	P229S, P215S	Hirschsprung disease, susceptibility to, 4	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89756610.	NM_207034.3(EDN3):c.651C>T (p.Pro217=) GRCh37: Chr20:57899448 GRCh38: Chr20:59324393	EDN3		Hirschsprung disease, susceptibility to, 4	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89756511.	NM_207034.3(EDN3):c.623T>C (p.Leu208Ser) GRCh37: Chr20:57899420 GRCh38: Chr20:59324365	EDN3	L208S, L194S	Hirschsprung disease, susceptibility to, 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89603312.	NM_207034.3(EDN3):c.*716C>G GRCh37: Chr20:57900230 GRCh38: Chr20:59325175	EDN3		Hirschsprung disease, susceptibility to, 4	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89603213.	NM_207034.3(EDN3):c.*708C>T GRCh37: Chr20:57900222 GRCh38: Chr20:59325167	EDN3		Hirschsprung disease, susceptibility to, 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89603114.	NM_207034.3(EDN3):c.*606A>C GRCh37: Chr20:57900120 GRCh38: Chr20:59325065	EDN3		Hirschsprung disease, susceptibility to, 4	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89582015.	NM_207034.1(EDN3):c.*1546T>C GRCh37: Chr20:57901060 GRCh38: Chr20:59326005	EDN3		Hirschsprung disease, susceptibility to, 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89581916.	NM_207034.3(EDN3):c.*1517C>A GRCh37: Chr20:57901031 GRCh38: Chr20:59325976	EDN3		Hirschsprung disease, susceptibility to, 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89575117.	NM_207034.3(EDN3):c.*165A>G GRCh37: Chr20:57899679 GRCh38: Chr20:59324624	EDN3		not provided, Hirschsprung disease, susceptibility to, 4	Benign/Likely benign (Apr 24, 2019)	criteria provided, multiple submitters, no conflicts
Select item 89575018.	NM_207034.3(EDN3):c.*149C>A GRCh37: Chr20:57899663 GRCh38: Chr20:59324608	EDN3		Hirschsprung disease, susceptibility to, 4	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 89574919.	NM_207034.3(EDN3):c.*147C>T GRCh37: Chr20:57899661 GRCh38: Chr20:59324606	EDN3		Hirschsprung disease, susceptibility to, 4	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89568020.	NM_207034.3(EDN3):c.-86G>A GRCh37: Chr20:57875782 GRCh38: Chr20:59300727	EDN3		Hirschsprung disease, susceptibility to, 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89567921.	NM_207034.3(EDN3):c.-115G>A GRCh37: Chr20:57875753 GRCh38: Chr20:59300698	EDN3		Hirschsprung disease, susceptibility to, 4	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 33916222.	NM_207034.3(EDN3):c.*1398C>T GRCh37: Chr20:57900912 GRCh38: Chr20:59325857	EDN3		Hirschsprung disease, susceptibility to, 4	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 33916123.	NM_207034.3(EDN3):c.*1293T>C GRCh37: Chr20:57900807 GRCh38: Chr20:59325752	EDN3		Hirschsprung disease, susceptibility to, 4	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 33916024.	NM_207034.3(EDN3):c.*1271A>G GRCh37: Chr20:57900785 GRCh38: Chr20:59325730	EDN3		Hirschsprung disease, susceptibility to, 4	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 33915925.	NM_207034.3(EDN3):c.*1255C>T GRCh37: Chr20:57900769 GRCh38: Chr20:59325714	EDN3		Hirschsprung disease, susceptibility to, 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33915826.	NM_207034.3(EDN3):c.*1147A>G GRCh37: Chr20:57900661 GRCh38: Chr20:59325606	EDN3		Hirschsprung disease, susceptibility to, 4	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 33915727.	NM_207034.3(EDN3):c.*1111G>A GRCh37: Chr20:57900625 GRCh38: Chr20:59325570	EDN3		Hirschsprung disease, susceptibility to, 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33915628.	NM_207034.3(EDN3):c.*1012C>T GRCh37: Chr20:57900526 GRCh38: Chr20:59325471	EDN3		Hirschsprung disease, susceptibility to, 4	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 33915529.	NM_207034.3(EDN3):c.*962C>T GRCh37: Chr20:57900476 GRCh38: Chr20:59325421	EDN3		Hirschsprung disease, susceptibility to, 4	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 33915430.	NM_207034.3(EDN3):c.*957C>T GRCh37: Chr20:57900471 GRCh38: Chr20:59325416	EDN3		Hirschsprung disease, susceptibility to, 4	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 33915331.	NM_207034.3(EDN3):c.*915C>T GRCh37: Chr20:57900429 GRCh38: Chr20:59325374	EDN3		Hirschsprung disease, susceptibility to, 4	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 33915232.	NM_207034.3(EDN3):c.*904A>G GRCh37: Chr20:57900418 GRCh38: Chr20:59325363	EDN3		Hirschsprung disease, susceptibility to, 4	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 33915133.	NM_207034.3(EDN3):c.*864C>G GRCh37: Chr20:57900378 GRCh38: Chr20:59325323	EDN3		Hirschsprung disease, susceptibility to, 4	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 33914934.	NM_207034.3(EDN3):c.*756C>T GRCh37: Chr20:57900270 GRCh38: Chr20:59325215	EDN3		Hirschsprung disease, susceptibility to, 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33914835.	NM_207034.3(EDN3):c.*679A>G GRCh37: Chr20:57900193 GRCh38: Chr20:59325138	EDN3		Hirschsprung disease, susceptibility to, 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33914736.	NM_207034.3(EDN3):c.*600A>G GRCh37: Chr20:57900114 GRCh38: Chr20:59325059	EDN3		Hirschsprung disease, susceptibility to, 4	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 33914637.	NM_207034.3(EDN3):c.*586G>A GRCh37: Chr20:57900100 GRCh38: Chr20:59325045	EDN3		Hirschsprung disease, susceptibility to, 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33914538.	NM_207034.3(EDN3):c.*585C>T GRCh37: Chr20:57900099 GRCh38: Chr20:59325044	EDN3		Hirschsprung disease, susceptibility to, 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33914439.	NM_207034.3(EDN3):c.*571A>G GRCh37: Chr20:57900085 GRCh38: Chr20:59325030	EDN3		Hirschsprung disease, susceptibility to, 4	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 33914340.	NM_207034.3(EDN3):c.*531A>G GRCh37: Chr20:57900045 GRCh38: Chr20:59324990	EDN3		Hirschsprung disease, susceptibility to, 4	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 33914241.	NM_207034.3(EDN3):c.*355A>G GRCh37: Chr20:57899869 GRCh38: Chr20:59324814	EDN3		Hirschsprung disease, susceptibility to, 4	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 33914142.	NM_207034.3(EDN3):c.*177C>A GRCh37: Chr20:57899691 GRCh38: Chr20:59324636	EDN3		Hirschsprung disease, susceptibility to, 4	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 33914043.	NM_207034.3(EDN3):c.*171G>A GRCh37: Chr20:57899685 GRCh38: Chr20:59324630	EDN3		Hirschsprung disease, susceptibility to, 4	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 33913944.	NM_207034.3(EDN3):c.*147C>G GRCh37: Chr20:57899661 GRCh38: Chr20:59324606	EDN3		Hirschsprung disease, susceptibility to, 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33913845.	NM_207034.3(EDN3):c.*146C>T GRCh37: Chr20:57899660 GRCh38: Chr20:59324605	EDN3		Hirschsprung disease, susceptibility to, 4	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 33913746.	NM_207034.3(EDN3):c.*145C>A GRCh37: Chr20:57899659 GRCh38: Chr20:59324604	EDN3		Hirschsprung disease, susceptibility to, 4	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 33913647.	NM_207034.3(EDN3):c.*144C>T GRCh37: Chr20:57899658 GRCh38: Chr20:59324603	EDN3		Hirschsprung disease, susceptibility to, 4	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 33913548.	NM_207034.3(EDN3):c.*143C>T GRCh37: Chr20:57899657 GRCh38: Chr20:59324602	EDN3		Hirschsprung disease, susceptibility to, 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33913449.	NM_207034.3(EDN3):c.*143C>A GRCh37: Chr20:57899657 GRCh38: Chr20:59324602	EDN3		Hirschsprung disease, susceptibility to, 4	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 33912950.	NM_207034.3(EDN3):c.*96G>A GRCh37: Chr20:57899610 GRCh38: Chr20:59324555	EDN3		Hirschsprung disease, susceptibility to, 4	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 33912851.	NM_207034.3(EDN3):c.*44T>C GRCh37: Chr20:57899558 GRCh38: Chr20:59324503	EDN3		Hirschsprung disease, susceptibility to, 4	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 33912752.	NM_207034.3(EDN3):c.689G>A (p.Arg230His) GRCh37: Chr20:57899486 GRCh38: Chr20:59324431	EDN3	R230H, R216H	not provided, Hirschsprung disease, susceptibility to, 4	Uncertain significance (Jan 31, 2023)	criteria provided, multiple submitters, no conflicts
Select item 33912653.	NM_207034.3(EDN3):c.688C>T (p.Arg230Cys) GRCh37: Chr20:57899485 GRCh38: Chr20:59324430	EDN3	R230C, R216C	Hirschsprung disease, susceptibility to, 4, Waardenburg syndrome type 4B, not provided, Hirschsprung disease, susceptibility to, 4	Uncertain significance (Apr 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 33912554.	NM_207034.3(EDN3):c.543-7C>T GRCh37: Chr20:57897420 GRCh38: Chr20:59322365	EDN3		Hirschsprung disease, susceptibility to, 4	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 33912455.	NM_207034.3(EDN3):c.426G>A (p.Ala142=) GRCh37: Chr20:57896132 GRCh38: Chr20:59321077	EDN3		not specified, Hirschsprung disease, susceptibility to, 4, Waardenburg syndrome type 4B, not provided, Hirschsprung disease, susceptibility to, 4	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 33912356.	NM_207034.3(EDN3):c.293C>A (p.Thr98Lys) GRCh37: Chr20:57876705 GRCh38: Chr20:59301650	EDN3	T98K	Waardenburg syndrome type 4B, Hirschsprung disease, susceptibility to, 4	Conflicting interpretations of pathogenicity (Feb 17, 2023)	criteria provided, conflicting interpretations
Select item 33912257.	NM_207034.3(EDN3):c.257A>G (p.Glu86Gly) GRCh37: Chr20:57876669 GRCh38: Chr20:59301614	EDN3	E86G	Hirschsprung disease, susceptibility to, 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33912158.	NM_207034.3(EDN3):c.43T>G (p.Ser15Ala) GRCh37: Chr20:57875910 GRCh38: Chr20:59300855	EDN3	S15A	not provided, Hirschsprung disease, susceptibility to, 4, Waardenburg syndrome type 4B, Hirschsprung disease, susceptibility to, 4	Uncertain significance (Feb 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 33912059.	NM_207034.3(EDN3):c.-44C>T GRCh37: Chr20:57875824 GRCh38: Chr20:59300769	EDN3		Hirschsprung disease, susceptibility to, 4	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 33911960.	NM_207034.3(EDN3):c.-77T>A GRCh37: Chr20:57875791 GRCh38: Chr20:59300736	EDN3		Hirschsprung disease, susceptibility to, 4	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 33911861.	NM_207034.3(EDN3):c.-85G>A GRCh37: Chr20:57875783 GRCh38: Chr20:59300728	EDN3		Hirschsprung disease, susceptibility to, 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33911762.	NM_207034.3(EDN3):c.-120C>T GRCh37: Chr20:57875748 GRCh38: Chr20:59300693	EDN3		Hirschsprung disease, susceptibility to, 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33911663.	NM_207034.3(EDN3):c.-164G>A GRCh37: Chr20:57875704 GRCh38: Chr20:59300649	EDN3		Hirschsprung disease, susceptibility to, 4	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 22662164.	NM_207034.3(EDN3):c.525A>G (p.Gln175=) GRCh37: Chr20:57896231 GRCh38: Chr20:59321176	EDN3		not provided, Hirschsprung disease, susceptibility to, 4, not specified	Benign (Oct 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1664865.	NM_207034.3(EDN3):c.262dup (p.Ala88fs) GRCh37: Chr20:57876669-57876670 GRCh38: Chr20:59301614-59301615	EDN3	A88fs	Hirschsprung disease, susceptibility to, 4	risk factor (May 1, 1999)	no assertion criteria provided
Select item 1664766.	NM_207034.3(EDN3):c.670G>A (p.Ala224Thr) GRCh37: Chr20:57899467 GRCh38: Chr20:59324412	EDN3	A224T, A210T	not specified, not provided, Waardenburg syndrome type 4B	Likely benign (Jul 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1664667.	NM_207034.3(EDN3):c.49G>A (p.Ala17Thr) GRCh37: Chr20:57875916 GRCh38: Chr20:59300861	EDN3	A17T	not specified, not provided, Hirschsprung disease, susceptibility to, 4	Conflicting interpretations of pathogenicity (Oct 15, 2022)	criteria provided, conflicting interpretations

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Items: 67