ClinVar for MedGen (Select 412961) - ClinVar - NCBI

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Items: 13

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 5472921.	NM_207034.3(EDN3):c.334C>A (p.His112Asn) GRCh37: Chr20:57876746 GRCh38: Chr20:59301691	EDN3	H112N	Waardenburg syndrome type 4B	Likely pathogenic (Nov 1, 2016)	criteria provided, single submitter
Select item 5455072.	NM_207034.3(EDN3):c.332G>T (p.Cys111Phe) GRCh37: Chr20:57876744 GRCh38: Chr20:59301689	EDN3	C111F	Waardenburg syndrome type 4B	Uncertain significance (Jul 27, 2021)	criteria provided, single submitter
Select item 3391263.	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 3391244.	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 3391235.	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 3391216.	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 2273517.	NM_207034.3(EDN3):c.565dup (p.Thr189fs) GRCh37: Chr20:57897443-57897444 GRCh38: Chr20:59322388-59322389	EDN3	T189fs	Hirschsprung Disease, Dominant, not specified, Waardenburg syndrome type 4B, not provided	Benign/Likely benign (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 166518.	NM_207034.3(EDN3):c.277C>G (p.Arg93Gly) GRCh37: Chr20:57876689 GRCh38: Chr20:59301634	EDN3	R93G	Waardenburg syndrome type 4B	Pathogenic (Jul 1, 2010)	no assertion criteria provided
Select item 166509.	NM_207034.3(EDN3):c.335A>G (p.His112Arg) GRCh37: Chr20:57876747 GRCh38: Chr20:59301692	EDN3	H112R	Waardenburg syndrome type 4B	Pathogenic (Oct 1, 2009)	no assertion criteria provided
Select item 1664910.	NM_207034.3(EDN3):c.507C>A (p.Cys169Ter) GRCh37: Chr20:57896213 GRCh38: Chr20:59321158	EDN3	C169*	Waardenburg syndrome type 4B	Pathogenic (Mar 1, 2001)	no assertion criteria provided
Select item 1664711.	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 1664412.	NM_207034.3(EDN3):c.476G>T (p.Cys159Phe) GRCh37: Chr20:57896182 GRCh38: Chr20:59321127	EDN3	C159F	Waardenburg syndrome type 4B	Pathogenic (Apr 1, 1996)	no assertion criteria provided
Select item 1664313.	NM_207034.3(EDN3):c.262_263delinsT (p.Ala88fs) GRCh37: Chr20:57876674-57876675 GRCh38: Chr20:59301619-59301620	EDN3	A88fs	Waardenburg syndrome type 4B	Pathogenic (Apr 1, 1996)	no assertion criteria provided