Related gene-specific medical variations for Gene (Select 100505518) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3378186	NM_001122659.3(EDNRB):c.734T>A (p.Met245Lys)	EDNRB, EDNRB-AS1 (M245K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3376674	NM_001122659.3(EDNRB):c.677G>A (p.Trp226Ter)	EDNRB, EDNRB-AS1 (W226* +1 more)	Single nucleotide variant (nonsense)	Waardenburg syndrome type 4A	GPathogenic
Select item 3368940	NM_001122659.3(EDNRB):c.761T>C (p.Ile254Thr)	EDNRB, EDNRB-AS1 (I254T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368844	NM_001122659.3(EDNRB):c.581C>T (p.Ala194Val)	EDNRB, EDNRB-AS1 (A194V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3355065	NM_001122659.3(EDNRB):c.955C>T (p.Arg319Trp)	EDNRB, EDNRB-AS1 (R319W +1 more)	Single nucleotide variant (missense variant)	EDNRB-related disorder	GUncertain significance
Select item 3336871	NM_001122659.3(EDNRB):c.940C>G (p.His314Asp)	EDNRB, EDNRB-AS1 (H314D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3236824	NM_001122659.3(EDNRB):c.1085+1G>A	EDNRB, EDNRB-AS1	Single nucleotide variant (splice donor variant)	Waardenburg syndrome type 4A	GLikely pathogenic
Select item 3233625	NM_001122659.3(EDNRB):c.902del (p.Met300_Leu301insTer)	EDNRB, EDNRB-AS1	Deletion (nonsense +1 more)	Waardenburg syndrome type 4A	GPathogenic
Select item 3087208	NM_001122659.3(EDNRB):c.820G>T (p.Asp274Tyr)	EDNRB, EDNRB-AS1 (D274Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3087207	NM_001122659.3(EDNRB):c.758G>C (p.Arg253Pro)	EDNRB, EDNRB-AS1 (R253P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3087206	NM_001122659.3(EDNRB):c.700G>A (p.Val234Ile)	EDNRB, EDNRB-AS1 (V234I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3048081	NM_001122659.3(EDNRB):c.1138T>C (p.Cys380Arg)	EDNRB, EDNRB-AS1 (C380R +1 more)	Single nucleotide variant (missense variant)	EDNRB-related disorder	GUncertain significance
Select item 3039754	NM_001122659.3(EDNRB):c.742A>T (p.Lys248Ter)	EDNRB, EDNRB-AS1 (K248* +1 more)	Single nucleotide variant (nonsense)	EDNRB-related disorder	GLikely pathogenic
Select item 3020801	NM_001122659.3(EDNRB):c.1150A>G (p.Ile384Val)	EDNRB, EDNRB-AS1 (I474V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3020372	NM_001122659.3(EDNRB):c.801+18T>A	EDNRB, EDNRB-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3008874	NM_001122659.3(EDNRB):c.1153G>A (p.Ala385Thr)	EDNRB, EDNRB-AS1 (A475T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3004019	NM_001122659.3(EDNRB):c.1284C>T (p.His428=)	EDNRB, EDNRB-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2990334	NM_001122659.3(EDNRB):c.757C>A (p.Arg253=)	EDNRB, EDNRB-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2974570	NM_001122659.3(EDNRB):c.802-13C>T	EDNRB, EDNRB-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2969708	NM_001122659.3(EDNRB):c.552_553inv (p.Val185Met)	EDNRB, EDNRB-AS1 (V275M +1 more)	Inversion (missense variant)	not provided	GUncertain significance
Select item 2969228	NM_001122659.3(EDNRB):c.972C>T (p.Thr324=)	EDNRB, EDNRB-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2886700	NM_001122659.3(EDNRB):c.883C>T (p.Leu295=)	EDNRB, EDNRB-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2881386	NM_001122659.3(EDNRB):c.596+14T>C	EDNRB, EDNRB-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2870716	NM_001122659.3(EDNRB):c.601C>A (p.Arg201=)	EDNRB, EDNRB-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2861907	NM_001122659.3(EDNRB):c.887T>C (p.Met296Thr)	EDNRB, EDNRB-AS1 (M296T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2819960	NM_001122659.3(EDNRB):c.686C>T (p.Ser229Phe)	EDNRB, EDNRB-AS1 (S229F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2811413	NM_001122659.3(EDNRB):c.1095G>T (p.Leu365Phe)	EDNRB, EDNRB-AS1 (L365F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2802763	NM_001122659.3(EDNRB):c.1273G>C (p.Ala425Pro)	EDNRB, EDNRB-AS1 (A425P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2770660	NM_001122659.3(EDNRB):c.1086-14T>C	EDNRB, EDNRB-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2758267	NM_001122659.3(EDNRB):c.733A>G (p.Met245Val)	EDNRB, EDNRB-AS1 (M245V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2751422	NM_001122659.3(EDNRB):c.1082T>G (p.Leu361Trp)	EDNRB, EDNRB-AS1 (L361W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2746016	NM_001122659.3(EDNRB):c.577T>C (p.Cys193Arg)	EDNRB, EDNRB-AS1 (C193R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2732351	NM_001122659.3(EDNRB):c.1194+17A>G	EDNRB, EDNRB-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2720321	NM_001122659.3(EDNRB):c.802-8C>A	EDNRB, EDNRB-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2717861	NM_001122659.3(EDNRB):c.879T>A (p.Tyr293Ter)	EDNRB, EDNRB-AS1 (Y293* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2711708	NM_001122659.3(EDNRB):c.629A>G (p.Lys210Arg)	EDNRB, EDNRB-AS1 (K300R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2707258	NM_001122659.3(EDNRB):c.1075G>C (p.Glu359Gln)	EDNRB, EDNRB-AS1 (E359Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2703346	NM_001122659.3(EDNRB):c.801+2T>A	EDNRB, EDNRB-AS1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2703295	NM_001122659.3(EDNRB):c.802-1G>T	EDNRB, EDNRB-AS1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2633374	NM_001122659.3(EDNRB):c.1143dup (p.Asn382Ter)	EDNRB, EDNRB-AS1 (N382* +1 more)	Duplication (nonsense +1 more)	EDNRB-related disorder	GLikely pathogenic
Select item 2632913	NM_001122659.3(EDNRB):c.1170C>G (p.Ser390Arg)	EDNRB, EDNRB-AS1 (S390R +1 more)	Single nucleotide variant (missense variant)	EDNRB-related disorder	GUncertain significance
Select item 2615851	NM_001122659.3(EDNRB):c.580G>A (p.Ala194Thr)	EDNRB, EDNRB-AS1 (A284T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2585621	NM_001122659.3(EDNRB):c.688G>C (p.Val230Leu)	EDNRB, EDNRB-AS1 (V230L +1 more)	Single nucleotide variant (missense variant)	Waardenburg syndrome type 4A	GUncertain significance
Select item 2584680	NM_001122659.3(EDNRB):c.886A>G (p.Met296Val)	EDNRB, EDNRB-AS1 (M296V +1 more)	Single nucleotide variant (missense variant)	Waardenburg syndrome type 4A	GUncertain significance
Select item 2575785	NM_001122659.3(EDNRB):c.1079T>A (p.Leu360His)	EDNRB, EDNRB-AS1 (L360H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2505197	NM_001122659.3(EDNRB):c.500G>C (p.Trp167Ser)	EDNRB, EDNRB-AS1 (W167S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2298395	NM_001122659.3(EDNRB):c.1172A>G (p.Lys391Arg)	EDNRB, EDNRB-AS1 (K481R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2275974	NM_001122659.3(EDNRB):c.1072T>C (p.Cys358Arg)	EDNRB, EDNRB-AS1 (C358R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2151208	NM_001122659.3(EDNRB):c.1264A>G (p.Lys422Glu)	EDNRB, EDNRB-AS1 (K512E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2114194	NM_001122659.3(EDNRB):c.484-14T>A	EDNRB, EDNRB-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2081642	NM_001122659.3(EDNRB):c.1090C>G (p.Leu364Val)	EDNRB, EDNRB-AS1 (L364V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2074607	NM_001122659.3(EDNRB):c.937G>A (p.Asp313Asn)	EDNRB, EDNRB-AS1 (D403N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2054497	NM_001122659.3(EDNRB):c.540A>G (p.Ile180Met)	EDNRB, EDNRB-AS1 (I180M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2054388	NM_001122659.3(EDNRB):c.630A>G (p.Lys210=)	EDNRB, EDNRB-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2026511	NM_001122659.3(EDNRB):c.1085G>T (p.Ser362Ile)	EDNRB, EDNRB-AS1 (S362I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2004757	NM_001122659.3(EDNRB):c.913del (p.Ser305fs)	EDNRB, EDNRB-AS1 (S305fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1944482	NM_001122659.3(EDNRB):c.709G>A (p.Ala237Thr)	EDNRB, EDNRB-AS1 (A327T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1924900	NM_001122659.3(EDNRB):c.744A>T (p.Lys248Asn)	EDNRB, EDNRB-AS1 (K248N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1919591	NM_001122659.3(EDNRB):c.571A>T (p.Ser191Cys)	EDNRB, EDNRB-AS1 (S191C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1915829	NM_001122659.3(EDNRB):c.952-15A>G	EDNRB, EDNRB-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1914830	NM_001122659.3(EDNRB):c.675T>A (p.Ile225=)	EDNRB, EDNRB-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1902147	NM_001122659.3(EDNRB):c.951+16T>C	EDNRB, EDNRB-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1899717	NM_001122659.3(EDNRB):c.735G>A (p.Met245Ile)	EDNRB, EDNRB-AS1 (M335I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1898357	NM_001122659.3(EDNRB):c.918C>T (p.Gly306=)	EDNRB, EDNRB-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1897939	NM_001122659.3(EDNRB):c.821A>G (p.Asp274Gly)	EDNRB, EDNRB-AS1 (D364G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1804432	NM_001122659.3(EDNRB):c.905G>C (p.Arg302Thr)	EDNRB, EDNRB-AS1 (R302T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1703356	NM_001122659.3(EDNRB):c.1301G>A (p.Arg434His)	EDNRB, EDNRB-AS1 (R434H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1684703	NM_001122659.3(EDNRB):c.928G>A (p.Ala310Thr)	EDNRB, EDNRB-AS1 (A310T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1683916	NM_001122659.3(EDNRB):c.596+1G>A	EDNRB, EDNRB-AS1	Single nucleotide variant (splice donor variant)	Hirschsprung disease, susceptibility to, 2 +1 more	GPathogenic/Likely pathogenic
Select item 1652174	NM_001122659.3(EDNRB):c.484-17G>A	EDNRB, EDNRB-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1644059	NM_001122659.3(EDNRB):c.802-4A>G	EDNRB-AS1, EDNRB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1588851	NM_001122659.3(EDNRB):c.783G>A (p.Gln261=)	EDNRB, EDNRB-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1583374	NM_001122659.3(EDNRB):c.1056G>A (p.Gln352=)	EDNRB, EDNRB-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1557647	NM_001122659.3(EDNRB):c.702C>T (p.Val234=)	EDNRB, EDNRB-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1526124	NM_001122659.3(EDNRB):c.1265_1283del (p.Lys422fs)	EDNRB, EDNRB-AS1 (K422fs +1 more)	Deletion (frameshift variant +1 more)	Waardenburg syndrome type 4A	GUncertain significance
Select item 1521548	NM_001122659.3(EDNRB):c.772C>G (p.His258Asp)	EDNRB, EDNRB-AS1 (H258D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1510402	NM_001122659.3(EDNRB):c.596+2T>C	EDNRB, EDNRB-AS1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1498840	NM_001122659.3(EDNRB):c.1194+2T>C	EDNRB, EDNRB-AS1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 1497665	NM_001122659.3(EDNRB):c.1194+5G>C	EDNRB, EDNRB-AS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1484630	NM_001122659.3(EDNRB):c.1304C>A (p.Ser435Tyr)	EDNRB, EDNRB-AS1 (S525Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1473196	NM_001122659.3(EDNRB):c.952-14T>C	EDNRB, EDNRB-AS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1391955	NM_001122659.3(EDNRB):c.1038_1076dup (p.Leu360_Leu361insThrLeuTyrAsnGlnAsnAspProAsnArgCysGluLeu)	EDNRB, EDNRB-AS1	Duplication (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 1384514	NM_001122659.3(EDNRB):c.559A>C (p.Ile187Leu)	EDNRB, EDNRB-AS1 (I187L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1380782	NM_001122659.3(EDNRB):c.632G>T (p.Gly211Val)	EDNRB, EDNRB-AS1 (G301V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1378245	NM_001122659.3(EDNRB):c.526C>G (p.Leu176Val)	EDNRB, EDNRB-AS1 (L176V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1354991	NM_001122659.3(EDNRB):c.743A>C (p.Lys248Thr)	EDNRB, EDNRB-AS1 (K248T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1341593	NM_001122659.3(EDNRB):c.1194+1G>C	EDNRB, EDNRB-AS1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 1334125	NM_001122659.3(EDNRB):c.801+2T>C	EDNRB, EDNRB-AS1	Single nucleotide variant (splice donor variant)	Waardenburg syndrome type 4A	GLikely pathogenic
Select item 1333432	NM_001122659.3(EDNRB):c.801+1G>T	EDNRB, EDNRB-AS1	Single nucleotide variant (splice donor variant)	Waardenburg syndrome type 4A	GLikely pathogenic
Select item 1314523	NM_001122659.3(EDNRB):c.842A>G (p.Tyr281Cys)	EDNRB, EDNRB-AS1 (Y281C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1312265	NM_001122659.3(EDNRB):c.1123G>T (p.Ala375Ser)	EDNRB, EDNRB-AS1 (A375S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1311762	NM_001122659.3(EDNRB):c.998C>A (p.Ala333Asp)	EDNRB, EDNRB-AS1 (A333D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1310193	NM_001122659.3(EDNRB):c.1112G>T (p.Gly371Val)	EDNRB, EDNRB-AS1 (G371V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1309302	NM_001122659.3(EDNRB):c.956G>T (p.Arg319Leu)	EDNRB, EDNRB-AS1 (R319L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1307781	NM_001122659.3(EDNRB):c.1195T>C (p.Ser399Pro)	EDNRB, EDNRB-AS1 (S399P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1307372	NM_001122659.3(EDNRB):c.1325C>T (p.Ser442Phe)	EDNRB, EDNRB-AS1 (S442F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1304467	NM_001122659.3(EDNRB):c.1009C>T (p.Leu337Phe)	EDNRB, EDNRB-AS1 (L337F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1303880	NM_001122659.3(EDNRB):c.853C>T (p.Pro285Ser)	EDNRB, EDNRB-AS1 (P285S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1246466	NM_001122659.3(EDNRB):c.1085+188T>G	EDNRB, EDNRB-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239475	NM_001122659.3(EDNRB):c.1086-167G>A	EDNRB, EDNRB-AS1	Single nucleotide variant (intron variant)	not provided	GBenign

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