EDNRB[gene] and "single gene"[properties] - ClinVar

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Items: 91

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1286575	NM_001122659.3(EDNRB):c.483+175A>C	EDNRB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264161	NM_001122659.3(EDNRB):c.483+79G>A	EDNRB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1216966	NM_001122659.3(EDNRB):c.483+66G>A	EDNRB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 882483	NM_001122659.3(EDNRB):c.483+15C>T	EDNRB	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2706961	NM_001122659.3(EDNRB):c.482A>T (p.Lys161Met)	EDNRB (K251M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1304223	NM_001122659.3(EDNRB):c.482A>G (p.Lys161Arg)	EDNRB (K161R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2958315	NM_001122659.3(EDNRB):c.477C>T (p.Val159=)	EDNRB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2574380	NM_001122659.3(EDNRB):c.470T>A (p.Ile157Asn)	EDNRB (I157N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1309185	NM_001122659.3(EDNRB):c.454G>A (p.Val152Ile)	EDNRB (V152I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2810375	NM_001122659.3(EDNRB):c.449A>C (p.His150Pro)	EDNRB (H240P +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1493141	NM_001122659.3(EDNRB):c.430G>A (p.Ala144Thr)	EDNRB (A144T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2041976	NM_001122659.3(EDNRB):c.416T>G (p.Leu139Trp)	EDNRB (L229W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 545011	NM_001122659.3(EDNRB):c.403G>A (p.Gly135Ser)	EDNRB (G135S +1 more)	Single nucleotide variant (missense variant)	Waardenburg syndrome type 4A	GUncertain significance
Select item 3274516	NM_001122659.3(EDNRB):c.392G>A (p.Cys131Tyr)	EDNRB (C131Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 882484	NM_001122659.3(EDNRB):c.391T>C (p.Cys131Arg)	EDNRB (C131R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1992879	NM_001122659.3(EDNRB):c.350_361del (p.Ile117_Ser120del)	EDNRB	Deletion (inframe_deletion +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 737700	NM_001122659.3(EDNRB):c.360C>T (p.Ser120=)	EDNRB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 451476	NM_001122659.3(EDNRB):c.344G>A (p.Gly115Glu)	EDNRB (G115E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1696956	NM_001122659.3(EDNRB):c.343G>A (p.Gly115Arg)	EDNRB (G115R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2866473	NM_001122659.3(EDNRB):c.330T>C (p.Leu110=)	EDNRB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 631706	NM_001122659.3(EDNRB):c.326del (p.Cys109fs)	EDNRB (C109fs +1 more)	Deletion (frameshift variant)	EDNRB-related disorder	GUncertain significance
Select item 3343601	NM_001122659.3(EDNRB):c.319G>T (p.Val107Leu)	EDNRB (V107L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 312472	NM_001122659.3(EDNRB):c.318T>C (p.Val106=)	EDNRB	Single nucleotide variant (synonymous variant)	Hirschsprung disease, susceptibility to, 2	GUncertain significance
Select item 1496310	NM_001122659.3(EDNRB):c.314C>T (p.Thr105Met)	EDNRB (T105M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 546018	NM_001122659.3(EDNRB):c.306C>A (p.Tyr102Ter)	EDNRB (Y102* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 425031	NM_001122659.3(EDNRB):c.306C>T (p.Tyr102=)	EDNRB	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2748514	NM_001122659.3(EDNRB):c.305A>G (p.Tyr102Cys)	EDNRB (Y192C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3064541	NM_001122659.3(EDNRB):c.292G>T (p.Glu98Ter)	EDNRB (E188* +1 more)	Single nucleotide variant (nonsense)	Waardenburg syndrome type 4A	GPathogenic
Select item 2802214	NM_001122659.3(EDNRB):c.282C>G (p.Ile94Met)	EDNRB (I94M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1306545	NM_001122659.3(EDNRB):c.271C>G (p.Gln91Glu)	EDNRB (Q181E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1382882	NM_001122659.3(EDNRB):c.253A>G (p.Ile85Val)	EDNRB (I85V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2887365	NM_001122659.3(EDNRB):c.248G>T (p.Arg83Leu)	EDNRB (R173L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2118783	NM_001122659.3(EDNRB):c.247C>T (p.Arg83Cys)	EDNRB (R173C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1314737	NM_001122659.3(EDNRB):c.242C>T (p.Pro81Leu)	EDNRB (P171L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2959059	NM_001122659.3(EDNRB):c.231G>T (p.Thr77=)	EDNRB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1909706	NM_001122659.3(EDNRB):c.231G>C (p.Thr77=)	EDNRB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1202544	NM_001122659.3(EDNRB):c.227G>T (p.Arg76Met)	EDNRB (R166M +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 755800	NM_001122659.3(EDNRB):c.226A>C (p.Arg76=)	EDNRB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 524124	NM_001122659.3(EDNRB):c.211_223del (p.Val71fs)	EDNRB (V71fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2185276	NM_001122659.3(EDNRB):c.214C>T (p.Pro72Ser)	EDNRB (P162S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1365811	NM_001122659.3(EDNRB):c.211G>C (p.Val71Leu)	EDNRB (V161L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3087205	NM_001122659.3(EDNRB):c.203C>G (p.Pro68Arg)	EDNRB (P158R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 505251	NM_001122659.3(EDNRB):c.203C>T (p.Pro68Leu)	EDNRB (P158L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2847500	NM_001122659.3(EDNRB):c.194C>A (p.Ser65Ter)	EDNRB (S155* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2849307	NM_001122659.3(EDNRB):c.193T>C (p.Ser65Pro)	EDNRB (S155P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 882485	NM_001122659.3(EDNRB):c.191G>T (p.Arg64Leu)	EDNRB (R154L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 517459	NM_001122659.3(EDNRB):c.186G>A (p.Leu62=)	EDNRB	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1439603	NM_001122659.3(EDNRB):c.178G>A (p.Ala60Thr)	EDNRB (A150T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 16637	NM_001122659.3(EDNRB):c.169G>A (p.Gly57Ser)	EDNRB (G57S +1 more)	Single nucleotide variant (missense variant)	Hirschsprung disease, susceptibility to, 2 +2 more	GConflicting classifications of pathogenicity
Select item 2137534	NM_001122659.3(EDNRB):c.167A>C (p.Lys56Thr)	EDNRB (K56T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1938574	NM_001122659.3(EDNRB):c.159A>G (p.Leu53=)	EDNRB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 871881	NM_001122659.3(EDNRB):c.158del (p.Leu53fs)	EDNRB (L143fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1977565	NM_001122659.3(EDNRB):c.155C>T (p.Thr52Ile)	EDNRB (T52I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369664	NM_001122659.3(EDNRB):c.143C>T (p.Pro48Leu)	EDNRB (P138L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1440984	NM_001122659.3(EDNRB):c.104G>C (p.Arg35Thr)	EDNRB (R125T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2176145	NM_001122659.3(EDNRB):c.102C>G (p.Asp34Glu)	EDNRB (D34E +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 884203	NM_001122659.3(EDNRB):c.99T>C (p.Pro33=)	EDNRB	Single nucleotide variant (synonymous variant)	Hirschsprung disease, susceptibility to, 2 +1 more	GConflicting classifications of pathogenicity
Select item 2886137	NM_001122659.3(EDNRB):c.94C>T (p.Pro32Ser)	EDNRB (P32S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3087209	NM_001122659.3(EDNRB):c.87_88dup (p.Gly30fs)	EDNRB (G30fs +1 more)	Microsatellite (frameshift variant)	Inborn genetic diseases	GLikely pathogenic
Select item 1962602	NM_001122659.3(EDNRB):c.82G>A (p.Glu28Lys)	EDNRB (E118K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1310248	NM_001122659.3(EDNRB):c.76G>A (p.Gly26Arg)	EDNRB (G116R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 752330	NM_001122659.3(EDNRB):c.69G>C (p.Arg23=)	EDNRB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1503608	NM_001122659.3(EDNRB):c.67C>T (p.Arg23Trp)	EDNRB (R113W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2015278	NM_001122659.3(EDNRB):c.61C>T (p.Leu21=)	EDNRB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 514259	NM_001122659.3(EDNRB):c.60C>T (p.Gly20=)	EDNRB	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 3363706	NM_001122659.3(EDNRB):c.58G>A (p.Gly20Ser)	EDNRB (G110S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 545012	NM_001122659.3(EDNRB):c.57C>A (p.Cys19Ter)	EDNRB (C109* +1 more)	Single nucleotide variant (nonsense)	Waardenburg syndrome type 4A	GPathogenic/Likely pathogenic
Select item 3020416	NM_001122659.3(EDNRB):c.56G>C (p.Cys19Ser)	EDNRB (C109S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 226623	NM_001122659.3(EDNRB):c.49C>T (p.Leu17Phe)	EDNRB (L107F +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2478860	NM_001122659.3(EDNRB):c.46G>T (p.Val16Phe)	EDNRB (V106F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1922937	NM_001122659.3(EDNRB):c.42G>T (p.Ala14=)	EDNRB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2181529	NM_001122659.3(EDNRB):c.13C>A (p.Pro5Thr)	EDNRB (P5T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2470796	NM_001122659.3(EDNRB):c.8C>T (p.Pro3Leu)	EDNRB (P93L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2710904	NM_001122659.3(EDNRB):c.5del (p.Gln2fs)	EDNRB (Q2fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 225346	NM_001122659.3(EDNRB):c.-26G>A	EDNRB (R82Q)	Single nucleotide variant (5 prime UTR variant +1 more)	Hirschsprung disease, susceptibility to, 2 +3 more	GConflicting classifications of pathogenicity
Select item 227352	NM_001122659.3(EDNRB):c.-47T>C	EDNRB (L75P)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 1246599	NM_001122659.3(EDNRB):c.-148A>G	EDNRB	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1210669	NM_000115.5(EDNRB):c.-51-1215G>C	EDNRB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 884204	NM_000115.5(EDNRB):c.-52G>A	EDNRB	Single nucleotide variant (5 prime UTR variant)	Hirschsprung disease, susceptibility to, 2	GUncertain significance
Select item 884205	NM_000115.5(EDNRB):c.-64C>T	EDNRB	Single nucleotide variant (5 prime UTR variant)	Hirschsprung disease, susceptibility to, 2	GUncertain significance
Select item 884206	NM_000115.5(EDNRB):c.-121G>T	EDNRB	Single nucleotide variant (5 prime UTR variant)	Hirschsprung disease, susceptibility to, 2	GBenign
Select item 884207	NM_000115.5(EDNRB):c.-153C>T	EDNRB	Single nucleotide variant (5 prime UTR variant)	Hirschsprung disease, susceptibility to, 2	GUncertain significance
Select item 880913	NM_000115.5(EDNRB):c.-160G>A	EDNRB	Single nucleotide variant (5 prime UTR variant)	Hirschsprung disease, susceptibility to, 2	GUncertain significance
Select item 880914	NM_000115.5(EDNRB):c.-161C>T	EDNRB	Single nucleotide variant (5 prime UTR variant)	Hirschsprung disease, susceptibility to, 2	GUncertain significance
Select item 880915	NM_000115.5(EDNRB):c.-179C>T	EDNRB	Single nucleotide variant (5 prime UTR variant)	Hirschsprung disease, susceptibility to, 2	GUncertain significance
Select item 880916	NM_000115.5(EDNRB):c.-205G>A	EDNRB	Single nucleotide variant (5 prime UTR variant)	Hirschsprung disease, susceptibility to, 2	GLikely benign
Select item 880917	NM_000115.5(EDNRB):c.-206C>T	EDNRB	Single nucleotide variant (5 prime UTR variant)	Hirschsprung disease, susceptibility to, 2	GLikely benign
Select item 880918	NM_000115.5(EDNRB):c.-225T>A	EDNRB	Single nucleotide variant (5 prime UTR variant)	Hirschsprung disease, susceptibility to, 2	GUncertain significance
Select item 880919	NM_000115.5(EDNRB):c.-228C>T	EDNRB	Single nucleotide variant (5 prime UTR variant)	Hirschsprung disease, susceptibility to, 2	GUncertain significance
Select item 564027	GRCh37/hg19 13q22.3(chr13:78444734-78770704)x1	EDNRB	Copy number loss	not provided	GUncertain significance
Select item 3359748	NM_001122659.3(EDNRB):c.385A>G (p.Asn129Asp)	EDNRB (N129D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 91