ClinVar for MedGen (Select 374002) - ClinVar

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Items: 81

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1218338	NM_001122659.3(EDNRB):c.1212G>A (p.Trp404Ter)	EDNRB, EDNRB-AS1 (W404* +1 more)	Single nucleotide variant (nonsense +1 more)	ABCD syndrome +3 more	GUncertain significance
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 884206	NM_000115.5(EDNRB):c.-121G>T	EDNRB	Single nucleotide variant (5 prime UTR variant)	Hirschsprung disease, susceptibility to, 2	GBenign
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 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 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 884146	NM_001122659.3(EDNRB):c.*1151T>A	EDNRB, EDNRB-AS1	Single nucleotide variant (3 prime UTR variant +1 more)	Hirschsprung disease, susceptibility to, 2	GUncertain significance
Select item 884145	NM_001122659.3(EDNRB):c.*1302G>A	EDNRB, EDNRB-AS1	Single nucleotide variant (3 prime UTR variant +1 more)	Hirschsprung disease, susceptibility to, 2	GUncertain significance
Select item 884088	NM_001122659.3(EDNRB):c.*2452G>A	EDNRB, EDNRB-AS1	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 2	GUncertain significance
Select item 884087	NM_001122659.3(EDNRB):c.*2463T>C	EDNRB-AS1, EDNRB	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 2	GUncertain significance
Select item 884086	NM_001122659.3(EDNRB):c.*2580C>T	EDNRB, EDNRB-AS1	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 2	GUncertain significance
Select item 884085	NM_001122659.3(EDNRB):c.*2665T>C	EDNRB, EDNRB-AS1	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 2	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 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 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 882440	NM_001122659.3(EDNRB):c.*1481G>A	EDNRB, EDNRB-AS1	Single nucleotide variant (3 prime UTR variant +1 more)	Hirschsprung disease, susceptibility to, 2	GUncertain significance
Select item 882439	NM_001122659.3(EDNRB):c.*1600T>C	EDNRB, EDNRB-AS1	Single nucleotide variant (3 prime UTR variant +1 more)	Hirschsprung disease, susceptibility to, 2	GUncertain significance
Select item 882193	NM_001122659.3(EDNRB):c.*1784A>G	EDNRB, EDNRB-AS1	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 2	GUncertain significance
Select item 882192	NM_001122659.3(EDNRB):c.*1844A>G	EDNRB-AS1, EDNRB	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 2	GUncertain significance
Select item 882191	NM_001122659.3(EDNRB):c.*2041T>C	EDNRB, EDNRB-AS1	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 2	GUncertain significance
Select item 882190	NM_001122659.3(EDNRB):c.*2047C>T	EDNRB, EDNRB-AS1	Single nucleotide variant (3 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 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 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 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 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 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 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 880862	NM_001122659.3(EDNRB):c.1256C>T (p.Ser419Leu)	EDNRB, EDNRB-AS1 (S509L +1 more)	Single nucleotide variant (missense variant +1 more)	Hirschsprung disease, susceptibility to, 2 +1 more	GUncertain significance
Select item 880861	NM_001122659.3(EDNRB):c.1300C>T (p.Arg434Cys)	EDNRB-AS1, EDNRB (R524C +1 more)	Single nucleotide variant (missense variant +1 more)	Hirschsprung disease, susceptibility to, 2	GUncertain significance
Select item 880860	NM_001122659.3(EDNRB):c.*414G>A	EDNRB, EDNRB-AS1	Single nucleotide variant (3 prime UTR variant +1 more)	Hirschsprung disease, susceptibility to, 2	GUncertain significance
Select item 880859	NM_001122659.3(EDNRB):c.*575A>G	EDNRB, EDNRB-AS1	Single nucleotide variant (3 prime UTR variant +1 more)	Hirschsprung disease, susceptibility to, 2	GUncertain significance
Select item 880858	NM_001122659.3(EDNRB):c.*781G>T	EDNRB-AS1, EDNRB	Single nucleotide variant (3 prime UTR variant +1 more)	Hirschsprung disease, susceptibility to, 2	GUncertain significance
Select item 880798	NM_001122659.3(EDNRB):c.*2292A>C	EDNRB, EDNRB-AS1	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 2	GUncertain significance
Select item 619136	NM_001122659.3(EDNRB):c.553G>A (p.Val185Met)	EDNRB, EDNRB-AS1 (V185M +1 more)	Single nucleotide variant (missense variant)	Hirschsprung disease, susceptibility to, 2 +5 more	GConflicting classifications of pathogenicity
Select item 585146	NM_001122659.3(EDNRB):c.778G>T (p.Val260Phe)	EDNRB, EDNRB-AS1 (V260F +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 504853	NM_001122659.3(EDNRB):c.778G>A (p.Val260Ile)	EDNRB, EDNRB-AS1 (V260I +1 more)	Single nucleotide variant (missense variant)	Hirschsprung disease, susceptibility to, 2 +2 more	GConflicting classifications of pathogenicity
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 312471	NM_001122659.3(EDNRB):c.777C>T (p.Pro259=)	EDNRB-AS1, EDNRB	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 312470	NM_001122659.3(EDNRB):c.1139G>C (p.Cys380Ser)	EDNRB, EDNRB-AS1 (C380S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 312469	NM_001122659.3(EDNRB):c.1194+15C>T	EDNRB, EDNRB-AS1	Single nucleotide variant (intron variant)	Hirschsprung disease, susceptibility to, 2 +1 more	GConflicting classifications of pathogenicity
Select item 312468	NM_001122659.3(EDNRB):c.*179G>A	EDNRB, EDNRB-AS1	Single nucleotide variant (3 prime UTR variant +1 more)	Hirschsprung disease, susceptibility to, 2	GUncertain significance
Select item 312467	NM_001122659.3(EDNRB):c.*296A>G	EDNRB, EDNRB-AS1	Single nucleotide variant (3 prime UTR variant +1 more)	Hirschsprung disease, susceptibility to, 2 +1 more	GConflicting classifications of pathogenicity
Select item 312466	NM_001122659.3(EDNRB):c.*585G>C	EDNRB, EDNRB-AS1	Single nucleotide variant (3 prime UTR variant +1 more)	Hirschsprung disease, susceptibility to, 2	GUncertain significance
Select item 312464	NM_001122659.3(EDNRB):c.*903G>A	EDNRB, EDNRB-AS1	Single nucleotide variant (3 prime UTR variant +1 more)	Hirschsprung disease, susceptibility to, 2	GLikely benign
Select item 312462	NM_001122659.3(EDNRB):c.*1131T>C	EDNRB, EDNRB-AS1	Single nucleotide variant (3 prime UTR variant +1 more)	Hirschsprung disease, susceptibility to, 2	GUncertain significance
Select item 312461	NM_001122659.3(EDNRB):c.*1260G>A	EDNRB, EDNRB-AS1	Single nucleotide variant (3 prime UTR variant +1 more)	Hirschsprung disease, susceptibility to, 2	GUncertain significance
Select item 312460	NM_001122659.3(EDNRB):c.*1310C>T	EDNRB-AS1, EDNRB	Single nucleotide variant (3 prime UTR variant +1 more)	Hirschsprung disease, susceptibility to, 2 +1 more	GUncertain significance
Select item 312459	NM_001122659.3(EDNRB):c.*1412C>T	EDNRB, EDNRB-AS1	Single nucleotide variant (3 prime UTR variant +1 more)	Hirschsprung disease, susceptibility to, 2 +1 more	GUncertain significance
Select item 312458	NM_001122659.3(EDNRB):c.*1474G>A	EDNRB-AS1, EDNRB	Single nucleotide variant (3 prime UTR variant +1 more)	Hirschsprung disease, susceptibility to, 2	GUncertain significance
Select item 312457	NM_001122659.3(EDNRB):c.*1496G>A	EDNRB, EDNRB-AS1	Single nucleotide variant (3 prime UTR variant +1 more)	Hirschsprung disease, susceptibility to, 2	GUncertain significance
Select item 312456	NM_001122659.3(EDNRB):c.*1513G>C	EDNRB, EDNRB-AS1	Single nucleotide variant (3 prime UTR variant +1 more)	Hirschsprung disease, susceptibility to, 2	GUncertain significance
Select item 312455	NM_001122659.3(EDNRB):c.*1514G>T	EDNRB, EDNRB-AS1	Single nucleotide variant (3 prime UTR variant +1 more)	Hirschsprung disease, susceptibility to, 2	GUncertain significance
Select item 312454	NM_001122659.3(EDNRB):c.*1546A>G	EDNRB, EDNRB-AS1	Single nucleotide variant (3 prime UTR variant +1 more)	Hirschsprung disease, susceptibility to, 2 +1 more	GBenign/Likely benign
Select item 312453	NM_001122659.3(EDNRB):c.*1662T>C	EDNRB, EDNRB-AS1	Single nucleotide variant (3 prime UTR variant +1 more)	Hirschsprung disease, susceptibility to, 2	GUncertain significance
Select item 312452	NM_001122659.3(EDNRB):c.*1860T>G	EDNRB, EDNRB-AS1	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 2	GUncertain significance
Select item 312451	NM_001122659.3(EDNRB):c.*1906G>A	EDNRB-AS1, EDNRB	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 2	GUncertain significance
Select item 312450	NM_001122659.3(EDNRB):c.*2055A>G	EDNRB, EDNRB-AS1	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 2	GUncertain significance
Select item 312449	NM_001122659.3(EDNRB):c.*2064T>G	EDNRB, EDNRB-AS1	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 2	GUncertain significance
Select item 312448	NM_001122659.3(EDNRB):c.*2165C>T	EDNRB-AS1, EDNRB	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 2	GUncertain significance
Select item 312447	NM_001122659.3(EDNRB):c.*2167C>G	EDNRB, EDNRB-AS1	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 2	GUncertain significance
Select item 312446	NM_001122659.3(EDNRB):c.*2219A>G	EDNRB, EDNRB-AS1	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 2	GUncertain significance
Select item 312445	NM_001122659.3(EDNRB):c.*2258G>T	EDNRB-AS1, EDNRB	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 2	GUncertain significance
Select item 312444	NM_001122659.3(EDNRB):c.*2309T>C	EDNRB, EDNRB-AS1	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 2	GUncertain significance
Select item 312443	NM_001122659.3(EDNRB):c.*2355T>C	EDNRB, EDNRB-AS1	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 2	GUncertain significance
Select item 312442	NM_001122659.3(EDNRB):c.*2426A>C	EDNRB-AS1, EDNRB	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 2	GUncertain significance
Select item 255141	NM_001122659.3(EDNRB):c.731C>T (p.Thr244Met)	EDNRB, EDNRB-AS1 (T244M +1 more)	Single nucleotide variant (missense variant)	Hirschsprung disease, susceptibility to, 2 +2 more	GConflicting classifications of pathogenicity
Select item 255140	NM_001122659.3(EDNRB):c.1239C>G (p.Ser413=)	EDNRB, EDNRB-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 228662	NM_001122659.3(EDNRB):c.1285G>A (p.Gly429Arg)	EDNRB, EDNRB-AS1 (G429R +1 more)	Single nucleotide variant (intron variant +1 more)	not provided +7 more	GUncertain significance
Select item 226627	NM_001122659.3(EDNRB):c.*1767C>T	EDNRB, EDNRB-AS1	Single nucleotide variant (3 prime UTR variant)	not specified +2 more	GBenign/Likely benign
Select item 226626	NM_001122659.3(EDNRB):c.561C>T (p.Ile187=)	EDNRB, EDNRB-AS1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 226625	NM_001122659.3(EDNRB):c.552T>C (p.Ser184=)	EDNRB, EDNRB-AS1	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
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 226622	NM_001122659.3(EDNRB):c.831A>G (p.Leu277=)	EDNRB, EDNRB-AS1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
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 16641	NM_000115.5(EDNRB):c.-51-949A>T	LOC107882129, EDNRB (K15*)	Single nucleotide variant (nonsense +1 more)	Hirschsprung disease, susceptibility to, 2	Grisk factor
Select item 16638	NM_001122659.3(EDNRB):c.914G>A (p.Ser305Asn)	EDNRB, EDNRB-AS1 (S305N +1 more)	Single nucleotide variant (missense variant)	Waardenburg syndrome type 2A +5 more	GConflicting classifications of pathogenicity
Select item 16637	NM_001122659.3(EDNRB):c.169G>A (p.Gly57Ser)	EDNRB (G57S +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 16636	NM_001122659.3(EDNRB):c.877dup (p.Tyr293fs)	EDNRB, EDNRB-AS1 (Y383fs +1 more)	Duplication (frameshift variant)	Hirschsprung disease, susceptibility to, 2	Grisk factor
Select item 16635	NM_001122659.3(EDNRB):c.824G>A (p.Trp275Ter)	EDNRB, EDNRB-AS1 (W275* +1 more)	Single nucleotide variant (nonsense)	Hirschsprung disease, susceptibility to, 2	Grisk factor
Select item 16633	NM_001122659.3(EDNRB):c.828G>T (p.Trp276Cys)	EDNRB, EDNRB-AS1 (W276C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity

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Items: 81