ClinVar for Gene (Select 1908) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3051475	NM_207034.3(EDN3):c.433C>T (p.Leu145Phe)	EDN3 (L145F)	Single nucleotide variant (missense variant)	EDN3-related condition	GUncertain significance
Select item 3032423	NM_207034.3(EDN3):c.675A>G (p.Pro225=)	EDN3	Single nucleotide variant (3 prime UTR variant +1 more)	EDN3-related condition	GLikely benign
Select item 3029995	NM_207034.3(EDN3):c.309G>A (p.Lys103=)	EDN3	Single nucleotide variant (synonymous variant)	EDN3-related condition	GLikely benign
Select item 3015512	NM_207034.3(EDN3):c.234C>T (p.Ser78=)	EDN3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2974725	NM_207034.3(EDN3):c.542+12C>T	EDN3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2907915	NM_207034.3(EDN3):c.501G>A (p.Lys167=)	EDN3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2896678	NM_207034.3(EDN3):c.222A>C (p.Pro74=)	EDN3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2891127	NM_207034.3(EDN3):c.555G>A (p.Thr185=)	EDN3 (R190Q)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2637511	NM_207034.3(EDN3):c.674_675del (p.Pro225fs)	EDN3 (P211fs +2 more)	Deletion (frameshift variant +1 more)	not specified	GUncertain significance
Select item 2580344	GRCh37/hg19 20q13.2-13.33(chr20:52773668-62965020)x3	ABHD16B, ADRM1 +113 more	Copy number gain	See cases	GUncertain significance
Select item 2578076	NM_207034.3(EDN3):c.137G>A (p.Cys46Tyr)	EDN3 (C46Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2558748	NM_207034.3(EDN3):c.190G>A (p.Gly64Arg)	EDN3 (G64R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2547586	NM_207034.3(EDN3):c.26T>A (p.Phe9Tyr)	EDN3 (F9Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2308550	NM_207034.3(EDN3):c.576A>T (p.Glu192Asp)	EDN3 (E192D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2277203	NM_207034.3(EDN3):c.241C>G (p.Gln81Glu)	EDN3 (Q81E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2243713	NM_207034.3(EDN3):c.257A>T (p.Glu86Val)	EDN3 (E86V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229263	NM_207034.3(EDN3):c.671C>T (p.Ala224Val)	EDN3 (A210V +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2217215	NM_207034.3(EDN3):c.246G>T (p.Glu82Asp)	EDN3 (E82D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2205942	NM_207034.3(EDN3):c.455C>T (p.Ser152Leu)	EDN3 (S152L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2138366	NM_207034.3(EDN3):c.380A>G (p.Tyr127Cys)	EDN3 (Y127C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2066081	NM_207034.3(EDN3):c.467A>G (p.His156Arg)	EDN3 (H156R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1906613	NM_207034.3(EDN3):c.263C>G (p.Ala88Gly)	EDN3 (A88G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1900028	NM_207034.3(EDN3):c.48C>T (p.Ala16=)	EDN3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1895873	NM_207034.3(EDN3):c.366-15C>T	EDN3	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1630459	NM_207034.3(EDN3):c.306C>T (p.Tyr102=)	EDN3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1596005	NM_207034.3(EDN3):c.52+7G>T	EDN3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1553318	NM_207034.3(EDN3):c.372G>A (p.Thr124=)	EDN3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1533008	NM_207034.3(EDN3):c.375G>A (p.Val125=)	EDN3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1526694	GRCh37/hg19 20q13.32-13.33(chr20:56835739-62915555)	LAMA5, LIME1 +88 more	Copy number gain	not specified	GPathogenic
Select item 1478818	NM_207034.3(EDN3):c.404G>A (p.Ser135Asn)	EDN3 (S135N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1471644	NM_207034.3(EDN3):c.556G>A (p.Ala186Thr)	EDN3 (A186T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1469695	NM_207034.3(EDN3):c.599A>T (p.Lys200Met)	EDN3 (K200M +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1442486	NM_207034.3(EDN3):c.176C>T (p.Ala59Val)	EDN3 (A59V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1433645	NM_207034.3(EDN3):c.11G>C (p.Gly4Ala)	EDN3 (G4A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1407409	NM_207034.3(EDN3):c.177_200del (p.Gly60_Ala67del)	EDN3	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1381061	NM_207034.3(EDN3):c.244G>A (p.Glu82Lys)	EDN3 (E82K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1374167	NC_000020.10:g.(?_54823900)_(57899514_?)del	ANKRD60, APCDD1L +36 more	Deletion	not provided	GUncertain significance
Select item 1335463	NM_207034.3(EDN3):c.589-10C>T	EDN3	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1331118	NM_207034.3(EDN3):c.689G>C (p.Arg230Pro)	EDN3 (R216P +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1329819	NM_207034.3(EDN3):c.677C>T (p.Ser226Phe)	EDN3 (S212F +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1315218	NM_207034.3(EDN3):c.655A>C (p.Ser219Arg)	EDN3 (S205R +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1314482	NM_207034.3(EDN3):c.404G>T (p.Ser135Ile)	EDN3 (S135I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1314082	NM_207034.3(EDN3):c.410G>A (p.Arg137Gln)	EDN3 (R137Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1307799	NM_207034.3(EDN3):c.162C>T (p.Gly54=)	EDN3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1304396	NM_207034.3(EDN3):c.329A>G (p.Tyr110Cys)	EDN3 (Y110C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1291826	NM_207034.3(EDN3):c.52+125C>T	EDN3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272825	NC_000020.11:g.59300108C>T	EDN3	Single nucleotide variant	not provided	GBenign
Select item 1266824	NM_207034.3(EDN3):c.52+236G>A	EDN3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1255314	NM_207034.3(EDN3):c.589-263G>A	EDN3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230330	NM_207034.3(EDN3):c.*149del	EDN3	Deletion (3 prime UTR variant)	not provided	GBenign
Select item 1213054	NC_000020.11:g.59300344C>T	EDN3	Single nucleotide variant	not provided	GLikely benign
Select item 1209005	NM_207034.3(EDN3):c.589-40C>T	EDN3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1208996	NC_000020.11:g.59300381_59300395del	EDN3	Deletion	not provided	GLikely benign
Select item 1202313	NM_207034.3(EDN3):c.*149dup	EDN3	Duplication (3 prime UTR variant)	not provided	GLikely benign
Select item 1194475	NM_207034.3(EDN3):c.461G>A (p.Arg154Gln)	EDN3 (R154Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1193722	NM_207034.3(EDN3):c.543-293C>T	EDN3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1189967	NM_207034.3(EDN3):c.-19C>A	EDN3	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 1180535	GRCh37/hg19 20q13.2-13.33(chr20:51799648-62916626)x3	GATA5, ZBTB46 +116 more	Copy number gain	not provided	GPathogenic
Select item 1178568	NM_207034.3(EDN3):c.53-225G>T	EDN3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1173028	NM_207034.3(EDN3):c.251_254delinsAGGG (p.Ala84_Ala85delinsGluGly)	EDN3	Indel (missense variant)	not provided	GUncertain significance
Select item 984392	NM_207034.3(EDN3):c.293C>T (p.Thr98Met)	EDN3 (T98M)	Single nucleotide variant (missense variant)	Sensorineural hearing loss disorder	GLikely pathogenic
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)	Hirschsprung disease, susceptibility to, 4	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 816133	GRCh37/hg19 20q13.32(chr20:57884761-57955182)x1	EDN3	Copy number loss	not provided	GUncertain significance
Select item 816132	GRCh37/hg19 20q13.32-13.33(chr20:56788101-62762405)x3	BHLHE23, ZGPAT +87 more	Copy number gain	not provided	GPathogenic
Select item 816131	GRCh37/hg19 20q13.31-13.33(chr20:55743522-62032989)x3	CDH4, CHRNA4 +68 more	Copy number gain	not provided	GPathogenic
Select item 775437	NM_207034.3(EDN3):c.603C>T (p.Asp201=)	EDN3 (T186I +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 764644	NM_207034.3(EDN3):c.225C>T (p.Ser75=)	EDN3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 666687	NM_207034.3(EDN3):c.504C>T (p.Ala168=)	EDN3	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 666686	NM_207034.3(EDN3):c.342C>T (p.Asp114=)	EDN3	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 625661	GRCh37/hg19 20q13.2-13.33(chr20:54143747-62194881)	ADRM1, ANKRD60 +86 more	Copy number gain	not provided	GPathogenic
Select item 547292	NM_207034.3(EDN3):c.334C>A (p.His112Asn)	EDN3 (H112N)	Single nucleotide variant (missense variant)	Waardenburg syndrome type 4B	GLikely pathogenic
Select item 545507	NM_207034.3(EDN3):c.332G>T (p.Cys111Phe)	EDN3 (C111F)	Single nucleotide variant (missense variant)	Waardenburg syndrome type 4B	GUncertain significance
Select item 523332	NM_207034.3(EDN3):c.143AGACTGTGGCTGGCCCTGGCGAGG[3] (p.48ETVAGPGE[3])	EDN3	Microsatellite (inframe_insertion)	not provided +2 more	GUncertain significance
Select item 511702	NM_207034.3(EDN3):c.24T>G (p.Leu8=)	EDN3	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 504330	NM_207034.3(EDN3):c.543-6C>A	EDN3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 504086	NM_207034.3(EDN3):c.143AGACTGTGGCTGGCCCTGGCGAGG[1] (p.48ETVAGPGE[1])	EDN3	Microsatellite (inframe_deletion)	EDN3-related condition +1 more	GLikely benign

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