ClinVar for MedGen (Select 462325) - ClinVar

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Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1803101	NM_207034.3(EDN3):c.377C>G (p.Pro126Arg)	EDN3 (P126R)	Single nucleotide variant (missense variant)	Hirschsprung disease, susceptibility to, 4	GUncertain significance
Select item 898786	NM_207034.3(EDN3):c.*1176C>T	EDN3	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 4	GUncertain significance
Select item 898785	NM_207034.3(EDN3):c.*1123G>A	EDN3	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 4	GUncertain significance
Select item 898784	NM_207034.3(EDN3):c.*963G>A	EDN3	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 4	GUncertain significance
Select item 898724	NM_207034.3(EDN3):c.*144C>A	EDN3	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 4	GUncertain significance
Select item 898723	NM_207034.3(EDN3):c.*143C>G	EDN3	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 4	GUncertain significance
Select item 897624	NM_207034.3(EDN3):c.*916G>A	EDN3	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 4	GUncertain significance
Select item 897623	NM_207034.3(EDN3):c.*757G>A	EDN3	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 4	GLikely benign
Select item 897567	NM_207034.3(EDN3):c.685C>T (p.Pro229Ser)	EDN3 (P229S +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Hirschsprung disease, susceptibility to, 4	GUncertain significance
Select item 897566	NM_207034.3(EDN3):c.651C>T (p.Pro217=)	EDN3	Single nucleotide variant (3 prime UTR variant +1 more)	Hirschsprung disease, susceptibility to, 4	GUncertain significance
Select item 897565	NM_207034.3(EDN3):c.623T>C (p.Leu208Ser)	EDN3 (L208S +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Hirschsprung disease, susceptibility to, 4	GUncertain significance
Select item 896033	NM_207034.3(EDN3):c.*716C>G	EDN3	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 4	GUncertain significance
Select item 896032	NM_207034.3(EDN3):c.*708C>T	EDN3	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 4	GUncertain significance
Select item 896031	NM_207034.3(EDN3):c.*606A>C	EDN3	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 4	GUncertain significance
Select item 895820	NM_207034.1(EDN3):c.*1546T>C	EDN3	Single nucleotide variant	Hirschsprung disease, susceptibility to, 4	GUncertain significance
Select item 895819	NM_207034.3(EDN3):c.*1517C>A	EDN3	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 4	GUncertain significance
Select item 895752	NM_207034.3(EDN3):c.*476G>A	EDN3	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 4	GUncertain significance
Select item 895751	NM_207034.3(EDN3):c.*165A>G	EDN3	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 895750	NM_207034.3(EDN3):c.*149C>A	EDN3	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 4	GLikely benign
Select item 895749	NM_207034.3(EDN3):c.*147C>T	EDN3	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 4	GUncertain significance
Select item 895680	NM_207034.3(EDN3):c.-86G>A	EDN3	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 895679	NM_207034.3(EDN3):c.-115G>A	EDN3	Single nucleotide variant (5 prime UTR variant)	Hirschsprung disease, susceptibility to, 4	GUncertain significance
Select item 339162	NM_207034.3(EDN3):c.*1398C>T	EDN3	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 4	GUncertain significance
Select item 339161	NM_207034.3(EDN3):c.*1293T>C	EDN3	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 4	GLikely benign
Select item 339160	NM_207034.3(EDN3):c.*1271A>G	EDN3	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 4	GUncertain significance
Select item 339159	NM_207034.3(EDN3):c.*1255C>T	EDN3	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 4	GUncertain significance
Select item 339158	NM_207034.3(EDN3):c.*1147A>G	EDN3	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 4	GUncertain significance
Select item 339157	NM_207034.3(EDN3):c.*1111G>A	EDN3	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 4	GUncertain significance
Select item 339156	NM_207034.3(EDN3):c.*1012C>T	EDN3	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 4	GBenign
Select item 339155	NM_207034.3(EDN3):c.*962C>T	EDN3	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 4	GLikely benign
Select item 339154	NM_207034.3(EDN3):c.*957C>T	EDN3	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 4	GBenign
Select item 339153	NM_207034.3(EDN3):c.*915C>T	EDN3	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 4 +1 more	GBenign
Select item 339152	NM_207034.3(EDN3):c.*904A>G	EDN3	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 4	GUncertain significance
Select item 339151	NM_207034.3(EDN3):c.*864C>G	EDN3	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 4	GBenign
Select item 339149	NM_207034.3(EDN3):c.*756C>T	EDN3	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 4	GUncertain significance
Select item 339148	NM_207034.3(EDN3):c.*679A>G	EDN3	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 4	GUncertain significance
Select item 339147	NM_207034.3(EDN3):c.*600A>G	EDN3	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 4	GBenign
Select item 339146	NM_207034.3(EDN3):c.*586G>A	EDN3	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 4	GUncertain significance
Select item 339145	NM_207034.3(EDN3):c.*585C>T	EDN3	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 4	GUncertain significance
Select item 339144	NM_207034.3(EDN3):c.*571A>G	EDN3	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 4	GUncertain significance
Select item 339143	NM_207034.3(EDN3):c.*531A>G	EDN3	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 4	GLikely benign
Select item 339142	NM_207034.3(EDN3):c.*355A>G	EDN3	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 4	GLikely benign
Select item 339141	NM_207034.3(EDN3):c.*177C>A	EDN3	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 4	GLikely benign
Select item 339140	NM_207034.3(EDN3):c.*171G>A	EDN3	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 4 +1 more	GBenign
Select item 339139	NM_207034.3(EDN3):c.*147C>G	EDN3	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 4	GUncertain significance
Select item 339138	NM_207034.3(EDN3):c.*146C>T	EDN3	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 339137	NM_207034.3(EDN3):c.*145C>A	EDN3	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 4	GUncertain significance
Select item 339136	NM_207034.3(EDN3):c.*144C>T	EDN3	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 4	GUncertain significance
Select item 339135	NM_207034.3(EDN3):c.*143C>T	EDN3	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 4	GUncertain significance
Select item 339134	NM_207034.3(EDN3):c.*143C>A	EDN3	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 4	GLikely benign
Select item 339129	NM_207034.3(EDN3):c.*96G>A	EDN3	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 4	GUncertain significance
Select item 339128	NM_207034.3(EDN3):c.*44T>C	EDN3	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 4	GLikely benign
Select item 339127	NM_207034.3(EDN3):c.689G>A (p.Arg230His)	EDN3 (R230H +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 339126	NM_207034.3(EDN3):c.688C>T (p.Arg230Cys)	EDN3 (R230C +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Hirschsprung disease, susceptibility to, 4 +2 more	GUncertain significance
Select item 339125	NM_207034.3(EDN3):c.543-7C>T	EDN3	Single nucleotide variant (intron variant)	Hirschsprung disease, susceptibility to, 4	GUncertain significance
Select item 339124	NM_207034.3(EDN3):c.426G>A (p.Ala142=)	EDN3	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 339123	NM_207034.3(EDN3):c.293C>A (p.Thr98Lys)	EDN3 (T98K)	Single nucleotide variant (missense variant)	Waardenburg syndrome type 4B +1 more	GConflicting classifications of pathogenicity
Select item 339122	NM_207034.3(EDN3):c.257A>G (p.Glu86Gly)	EDN3 (E86G)	Single nucleotide variant (missense variant)	Hirschsprung disease, susceptibility to, 4	GUncertain significance
Select item 339121	NM_207034.3(EDN3):c.43T>G (p.Ser15Ala)	EDN3 (S15A)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 339120	NM_207034.3(EDN3):c.-44C>T	EDN3	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GLikely benign
Select item 339119	NM_207034.3(EDN3):c.-77T>A	EDN3	Single nucleotide variant (5 prime UTR variant)	Hirschsprung disease, susceptibility to, 4 +1 more	GBenign
Select item 339118	NM_207034.3(EDN3):c.-85G>A	EDN3	Single nucleotide variant (5 prime UTR variant)	Hirschsprung disease, susceptibility to, 4	GUncertain significance
Select item 339117	NM_207034.3(EDN3):c.-120C>T	EDN3	Single nucleotide variant (5 prime UTR variant)	Hirschsprung disease, susceptibility to, 4	GUncertain significance
Select item 339116	NM_207034.3(EDN3):c.-164G>A	EDN3	Single nucleotide variant (5 prime UTR variant)	Hirschsprung disease, susceptibility to, 4	GUncertain significance
Select item 226621	NM_207034.3(EDN3):c.525A>G (p.Gln175=)	EDN3	Single nucleotide variant (synonymous variant)	Hirschsprung disease, susceptibility to, 4 +2 more	GBenign
Select item 16648	NM_207034.3(EDN3):c.262dup (p.Ala88fs)	EDN3 (A88fs)	Duplication (frameshift variant)	Hirschsprung disease, susceptibility to, 4	Grisk factor
Select item 16647	NM_207034.3(EDN3):c.670G>A (p.Ala224Thr)	EDN3 (A224T +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +2 more	GLikely benign
Select item 16646	NM_207034.3(EDN3):c.49G>A (p.Ala17Thr)	EDN3 (A17T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity

ClinVar

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Links from MedGen

Items: 68