ClinVar for MedGen (Select 374002) - ClinVar

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Items: 81

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 12183381.	NM_001122659.3(EDNRB):c.1212G>A (p.Trp404Ter) GRCh37: Chr13:78472452 GRCh38: Chr13:77898317	EDNRB, EDNRB-AS1	W404, W494	not provided, Hirschsprung disease, susceptibility to, 2, Waardenburg syndrome type 4A, ABCD syndrome	Uncertain significance (Nov 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 8842072.	NM_000115.5(EDNRB):c.-153C>T GRCh37: Chr13:78549583 GRCh38: Chr13:77975448	EDNRB		Hirschsprung disease, susceptibility to, 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 8842063.	NM_000115.5(EDNRB):c.-121G>T GRCh37: Chr13:78549551 GRCh38: Chr13:77975416	EDNRB		Hirschsprung disease, susceptibility to, 2	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 8842054.	NM_000115.5(EDNRB):c.-64C>T GRCh37: Chr13:78549494 GRCh38: Chr13:77975359	EDNRB		Hirschsprung disease, susceptibility to, 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 8842045.	NM_000115.5(EDNRB):c.-52G>A GRCh37: Chr13:78549482 GRCh38: Chr13:77975347	EDNRB		Hirschsprung disease, susceptibility to, 2	Uncertain significance (Jan 15, 2018)	criteria provided, single submitter
Select item 8842036.	NM_001122659.3(EDNRB):c.99T>C (p.Pro33=) GRCh37: Chr13:78492610 GRCh38: Chr13:77918475	EDNRB		not provided, Hirschsprung disease, susceptibility to, 2	Conflicting interpretations of pathogenicity (Jun 10, 2022)	criteria provided, conflicting interpretations
Select item 8841467.	NM_001122659.3(EDNRB):c.*1151T>A GRCh37: Chr13:78471184 GRCh38: Chr13:77897049	EDNRB, EDNRB-AS1		Hirschsprung disease, susceptibility to, 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 8841458.	NM_001122659.3(EDNRB):c.*1302G>A GRCh37: Chr13:78471033 GRCh38: Chr13:77896898	EDNRB, EDNRB-AS1		Hirschsprung disease, susceptibility to, 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 8840889.	NM_001122659.3(EDNRB):c.*2452G>A GRCh37: Chr13:78469883 GRCh38: Chr13:77895748	EDNRB, EDNRB-AS1		Hirschsprung disease, susceptibility to, 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88408710.	NM_001122659.3(EDNRB):c.*2463T>C GRCh37: Chr13:78469872 GRCh38: Chr13:77895737	EDNRB, EDNRB-AS1		Hirschsprung disease, susceptibility to, 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88408611.	NM_001122659.3(EDNRB):c.*2580C>T GRCh37: Chr13:78469755 GRCh38: Chr13:77895620	EDNRB, EDNRB-AS1		Hirschsprung disease, susceptibility to, 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88408512.	NM_001122659.3(EDNRB):c.*2665T>C GRCh37: Chr13:78469670 GRCh38: Chr13:77895535	EDNRB, EDNRB-AS1		Hirschsprung disease, susceptibility to, 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88248513.	NM_001122659.3(EDNRB):c.191G>T (p.Arg64Leu) GRCh37: Chr13:78492518 GRCh38: Chr13:77918383	EDNRB	R154L, R64L	not provided, Hirschsprung disease, susceptibility to, 2	Uncertain significance (Aug 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 88248414.	NM_001122659.3(EDNRB):c.391T>C (p.Cys131Arg) GRCh37: Chr13:78492318 GRCh38: Chr13:77918183	EDNRB	C131R, C221R	not provided, Hirschsprung disease, susceptibility to, 2	Uncertain significance (Aug 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 88248315.	NM_001122659.3(EDNRB):c.483+15C>T GRCh37: Chr13:78492211 GRCh38: Chr13:77918076	EDNRB		not provided, Hirschsprung disease, susceptibility to, 2	Conflicting interpretations of pathogenicity (Jun 9, 2021)	criteria provided, conflicting interpretations
Select item 88244016.	NM_001122659.3(EDNRB):c.*1481G>A GRCh37: Chr13:78470854 GRCh38: Chr13:77896719	EDNRB, EDNRB-AS1		Hirschsprung disease, susceptibility to, 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88243917.	NM_001122659.3(EDNRB):c.*1600T>C GRCh37: Chr13:78470735 GRCh38: Chr13:77896600	EDNRB, EDNRB-AS1		Hirschsprung disease, susceptibility to, 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88219318.	NM_001122659.3(EDNRB):c.*1784A>G GRCh37: Chr13:78470551 GRCh38: Chr13:77896416	EDNRB, EDNRB-AS1		Hirschsprung disease, susceptibility to, 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88219219.	NM_001122659.3(EDNRB):c.*1844A>G GRCh37: Chr13:78470491 GRCh38: Chr13:77896356	EDNRB-AS1, EDNRB		Hirschsprung disease, susceptibility to, 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88219120.	NM_001122659.3(EDNRB):c.*2041T>C GRCh37: Chr13:78470294 GRCh38: Chr13:77896159	EDNRB, EDNRB-AS1		Hirschsprung disease, susceptibility to, 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88219021.	NM_001122659.3(EDNRB):c.*2047C>T GRCh37: Chr13:78470288 GRCh38: Chr13:77896153	EDNRB, EDNRB-AS1		Hirschsprung disease, susceptibility to, 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88091922.	NM_000115.5(EDNRB):c.-228C>T GRCh37: Chr13:78549658 GRCh38: Chr13:77975523	EDNRB		Hirschsprung disease, susceptibility to, 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88091823.	NM_000115.5(EDNRB):c.-225T>A GRCh37: Chr13:78549655 GRCh38: Chr13:77975520	EDNRB		Hirschsprung disease, susceptibility to, 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88091724.	NM_000115.5(EDNRB):c.-206C>T GRCh37: Chr13:78549636 GRCh38: Chr13:77975501	EDNRB		Hirschsprung disease, susceptibility to, 2	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 88091625.	NM_000115.5(EDNRB):c.-205G>A GRCh37: Chr13:78549635 GRCh38: Chr13:77975500	EDNRB		Hirschsprung disease, susceptibility to, 2	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 88091526.	NM_000115.5(EDNRB):c.-179C>T GRCh37: Chr13:78549609 GRCh38: Chr13:77975474	EDNRB		Hirschsprung disease, susceptibility to, 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88091427.	NM_000115.5(EDNRB):c.-161C>T GRCh37: Chr13:78549591 GRCh38: Chr13:77975456	EDNRB		Hirschsprung disease, susceptibility to, 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88091328.	NM_000115.5(EDNRB):c.-160G>A GRCh37: Chr13:78549590 GRCh38: Chr13:77975455	EDNRB		Hirschsprung disease, susceptibility to, 2	Uncertain significance (Apr 28, 2017)	criteria provided, single submitter
Select item 88086229.	NM_001122659.3(EDNRB):c.1256C>T (p.Ser419Leu) GRCh37: Chr13:78472408 GRCh38: Chr13:77898273	EDNRB, EDNRB-AS1	S509L, S419L	Hirschsprung disease, susceptibility to, 2, not provided	Uncertain significance (Dec 3, 2021)	criteria provided, multiple submitters, no conflicts
Select item 88086130.	NM_001122659.3(EDNRB):c.1300C>T (p.Arg434Cys) GRCh37: Chr13:78472364 GRCh38: Chr13:77898229	EDNRB, EDNRB-AS1	R524C, R434C	Hirschsprung disease, susceptibility to, 2	Uncertain significance (Aug 9, 2017)	criteria provided, single submitter
Select item 88086031.	NM_001122659.3(EDNRB):c.*414G>A GRCh37: Chr13:78471921 GRCh38: Chr13:77897786	EDNRB, EDNRB-AS1		Hirschsprung disease, susceptibility to, 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88085932.	NM_001122659.3(EDNRB):c.*575A>G GRCh37: Chr13:78471760 GRCh38: Chr13:77897625	EDNRB, EDNRB-AS1		Hirschsprung disease, susceptibility to, 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88085833.	NM_001122659.3(EDNRB):c.*781G>T GRCh37: Chr13:78471554 GRCh38: Chr13:77897419	EDNRB, EDNRB-AS1		Hirschsprung disease, susceptibility to, 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88079834.	NM_001122659.3(EDNRB):c.*2292A>C GRCh37: Chr13:78470043 GRCh38: Chr13:77895908	EDNRB, EDNRB-AS1		Hirschsprung disease, susceptibility to, 2	Uncertain significance (Jan 15, 2018)	criteria provided, single submitter
Select item 61913635.	NM_001122659.3(EDNRB):c.553G>A (p.Val185Met) GRCh37: Chr13:78477673 GRCh38: Chr13:77903538	EDNRB, EDNRB-AS1	V185M, V275M	not provided, Hearing impairment, Aganglionosis, total intestinal, Waardenburg syndrome type 4A, Hirschsprung disease, susceptibility to, 2	Conflicting interpretations of pathogenicity (Jun 1, 2022)	criteria provided, conflicting interpretations
Select item 58514636.	NM_001122659.3(EDNRB):c.778G>T (p.Val260Phe) GRCh37: Chr13:78477314 GRCh38: Chr13:77903179	EDNRB, EDNRB-AS1	V260F, V350F	not provided	Benign/Likely benign (Sep 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 50485337.	NM_001122659.3(EDNRB):c.778G>A (p.Val260Ile) GRCh37: Chr13:78477314 GRCh38: Chr13:77903179	EDNRB, EDNRB-AS1	V260I, V350I	not provided, not specified, Hirschsprung disease, susceptibility to, 2	Conflicting interpretations of pathogenicity (Oct 17, 2022)	criteria provided, conflicting interpretations
Select item 31247238.	NM_001122659.3(EDNRB):c.318T>C (p.Val106=) GRCh37: Chr13:78492391 GRCh38: Chr13:77918256	EDNRB		Hirschsprung disease, susceptibility to, 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31247139.	NM_001122659.3(EDNRB):c.777C>T (p.Pro259=) GRCh37: Chr13:78477315 GRCh38: Chr13:77903180	EDNRB, EDNRB-AS1		not provided, Hirschsprung disease, susceptibility to, 2	Conflicting interpretations of pathogenicity (Sep 24, 2022)	criteria provided, conflicting interpretations
Select item 31247040.	NM_001122659.3(EDNRB):c.1139G>C (p.Cys380Ser) GRCh37: Chr13:78474049 GRCh38: Chr13:77899914	EDNRB, EDNRB-AS1	C380S, C470S	not provided, Hirschsprung disease, susceptibility to, 2	Uncertain significance (Feb 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 31246941.	NM_001122659.3(EDNRB):c.1194+15C>T GRCh37: Chr13:78473979 GRCh38: Chr13:77899844	EDNRB, EDNRB-AS1		Hirschsprung disease, susceptibility to, 2, not specified	Conflicting interpretations of pathogenicity (Jan 13, 2018)	criteria provided, conflicting interpretations
Select item 31246842.	NM_001122659.3(EDNRB):c.*179G>A GRCh37: Chr13:78472156 GRCh38: Chr13:77898021	EDNRB, EDNRB-AS1		Hirschsprung disease, susceptibility to, 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31246743.	NM_001122659.3(EDNRB):c.*296A>G GRCh37: Chr13:78472039 GRCh38: Chr13:77897904	EDNRB, EDNRB-AS1		not provided, Hirschsprung disease, susceptibility to, 2	Conflicting interpretations of pathogenicity (Apr 12, 2019)	criteria provided, conflicting interpretations
Select item 31246644.	NM_001122659.3(EDNRB):c.*585G>C GRCh37: Chr13:78471750 GRCh38: Chr13:77897615	EDNRB, EDNRB-AS1		Hirschsprung disease, susceptibility to, 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31246445.	NM_001122659.3(EDNRB):c.*903G>A GRCh37: Chr13:78471432 GRCh38: Chr13:77897297	EDNRB, EDNRB-AS1		Hirschsprung disease, susceptibility to, 2	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 31246246.	NM_001122659.3(EDNRB):c.*1131T>C GRCh37: Chr13:78471204 GRCh38: Chr13:77897069	EDNRB, EDNRB-AS1		Hirschsprung disease, susceptibility to, 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31246147.	NM_001122659.3(EDNRB):c.*1260G>A GRCh37: Chr13:78471075 GRCh38: Chr13:77896940	EDNRB, EDNRB-AS1		Hirschsprung disease, susceptibility to, 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31246048.	NM_001122659.3(EDNRB):c.*1310C>T GRCh37: Chr13:78471025 GRCh38: Chr13:77896890	EDNRB, EDNRB-AS1		Hirschsprung disease, susceptibility to, 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31245949.	NM_001122659.3(EDNRB):c.*1412C>T GRCh37: Chr13:78470923 GRCh38: Chr13:77896788	EDNRB, EDNRB-AS1		Hirschsprung disease, susceptibility to, 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31245850.	NM_001122659.3(EDNRB):c.*1474G>A GRCh37: Chr13:78470861 GRCh38: Chr13:77896726	EDNRB, EDNRB-AS1		Hirschsprung disease, susceptibility to, 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 31245751.	NM_001122659.3(EDNRB):c.*1496G>A GRCh37: Chr13:78470839 GRCh38: Chr13:77896704	EDNRB, EDNRB-AS1		Hirschsprung disease, susceptibility to, 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 31245652.	NM_001122659.3(EDNRB):c.*1513G>C GRCh37: Chr13:78470822 GRCh38: Chr13:77896687	EDNRB, EDNRB-AS1		Hirschsprung disease, susceptibility to, 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31245553.	NM_001122659.3(EDNRB):c.*1514G>T GRCh37: Chr13:78470821 GRCh38: Chr13:77896686	EDNRB, EDNRB-AS1		Hirschsprung disease, susceptibility to, 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31245454.	NM_001122659.3(EDNRB):c.*1546A>G GRCh37: Chr13:78470789 GRCh38: Chr13:77896654	EDNRB, EDNRB-AS1		not provided, Hirschsprung disease, susceptibility to, 2	Benign/Likely benign (Jul 5, 2018)	criteria provided, multiple submitters, no conflicts
Select item 31245355.	NM_001122659.3(EDNRB):c.*1662T>C GRCh37: Chr13:78470673 GRCh38: Chr13:77896538	EDNRB, EDNRB-AS1		Hirschsprung disease, susceptibility to, 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 31245256.	NM_001122659.3(EDNRB):c.*1860T>G GRCh37: Chr13:78470475 GRCh38: Chr13:77896340	EDNRB, EDNRB-AS1		Hirschsprung disease, susceptibility to, 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 31245157.	NM_001122659.3(EDNRB):c.*1906G>A GRCh37: Chr13:78470429 GRCh38: Chr13:77896294	EDNRB, EDNRB-AS1		Hirschsprung disease, susceptibility to, 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31245058.	NM_001122659.3(EDNRB):c.*2055A>G GRCh37: Chr13:78470280 GRCh38: Chr13:77896145	EDNRB, EDNRB-AS1		Hirschsprung disease, susceptibility to, 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31244959.	NM_001122659.3(EDNRB):c.*2064T>G GRCh37: Chr13:78470271 GRCh38: Chr13:77896136	EDNRB, EDNRB-AS1		Hirschsprung disease, susceptibility to, 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 31244860.	NM_001122659.3(EDNRB):c.*2165C>T GRCh37: Chr13:78470170 GRCh38: Chr13:77896035	EDNRB, EDNRB-AS1		Hirschsprung disease, susceptibility to, 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 31244761.	NM_001122659.3(EDNRB):c.*2167C>G GRCh37: Chr13:78470168 GRCh38: Chr13:77896033	EDNRB, EDNRB-AS1		Hirschsprung disease, susceptibility to, 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31244662.	NM_001122659.3(EDNRB):c.*2219A>G GRCh37: Chr13:78470116 GRCh38: Chr13:77895981	EDNRB, EDNRB-AS1		Hirschsprung disease, susceptibility to, 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31244563.	NM_001122659.3(EDNRB):c.*2258G>T GRCh37: Chr13:78470077 GRCh38: Chr13:77895942	EDNRB, EDNRB-AS1		Hirschsprung disease, susceptibility to, 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31244464.	NM_001122659.3(EDNRB):c.*2309T>C GRCh37: Chr13:78470026 GRCh38: Chr13:77895891	EDNRB, EDNRB-AS1		Hirschsprung disease, susceptibility to, 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 31244365.	NM_001122659.3(EDNRB):c.*2355T>C GRCh37: Chr13:78469980 GRCh38: Chr13:77895845	EDNRB, EDNRB-AS1		Hirschsprung disease, susceptibility to, 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31244266.	NM_001122659.3(EDNRB):c.*2426A>C GRCh37: Chr13:78469909 GRCh38: Chr13:77895774	EDNRB, EDNRB-AS1		Hirschsprung disease, susceptibility to, 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 25514167.	NM_001122659.3(EDNRB):c.731C>T (p.Thr244Met) GRCh37: Chr13:78477361 GRCh38: Chr13:77903226	EDNRB, EDNRB-AS1	T244M, T334M	not specified, not provided, Hirschsprung disease, susceptibility to, 2	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 25514068.	NM_001122659.3(EDNRB):c.1239C>G (p.Ser413=) GRCh37: Chr13:78472425 GRCh38: Chr13:77898290	EDNRB, EDNRB-AS1		not provided, not specified, Hirschsprung disease, susceptibility to, 2	Conflicting interpretations of pathogenicity (Oct 25, 2022)	criteria provided, conflicting interpretations
Select item 22866269.	NM_001122659.3(EDNRB):c.1285G>A (p.Gly429Arg) GRCh37: Chr13:78472379 GRCh38: Chr13:77898244	EDNRB, EDNRB-AS1	G429R, G519R	Hirschsprung Disease, Recessive, Waardenburg syndrome, not specified, ABCD syndrome, Hirschsprung disease, susceptibility to, 2, Waardenburg syndrome type 4A, Inborn genetic diseases, not provided	Uncertain significance (Oct 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 22662770.	NM_001122659.3(EDNRB):c.*1767C>T GRCh37: Chr13:78470568 GRCh38: Chr13:77896433	EDNRB, EDNRB-AS1		not specified, not provided, Hirschsprung disease, susceptibility to, 2	Benign/Likely benign (Mar 4, 2019)	criteria provided, multiple submitters, no conflicts
Select item 22662671.	NM_001122659.3(EDNRB):c.561C>T (p.Ile187=) GRCh37: Chr13:78477665 GRCh38: Chr13:77903530	EDNRB, EDNRB-AS1		not provided, not specified, Hirschsprung disease, susceptibility to, 2	Benign/Likely benign (Nov 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 22662572.	NM_001122659.3(EDNRB):c.552T>C (p.Ser184=) GRCh37: Chr13:78477674 GRCh38: Chr13:77903539	EDNRB, EDNRB-AS1		not specified, Waardenburg syndrome type 4A, ABCD syndrome, Hirschsprung disease, susceptibility to, 2, Waardenburg syndrome type 4A, ABCD syndrome, not provided	Benign (Oct 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 22662373.	NM_001122659.3(EDNRB):c.49C>T (p.Leu17Phe) GRCh37: Chr13:78492660 GRCh38: Chr13:77918525	EDNRB	L107F, L17F	not provided, not specified, Hirschsprung disease, susceptibility to, 2	Conflicting interpretations of pathogenicity (Oct 24, 2022)	criteria provided, conflicting interpretations
Select item 22662274.	NM_001122659.3(EDNRB):c.831A>G (p.Leu277=) GRCh37: Chr13:78475313 GRCh38: Chr13:77901178	EDNRB, EDNRB-AS1		not specified, not provided, Hirschsprung disease, susceptibility to, 2	Benign (Oct 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 22534675.	NM_001122659.3(EDNRB):c.-26G>A GRCh37: Chr13:78492734 GRCh38: Chr13:77918599	EDNRB	R82Q	not specified, not provided, Hirschsprung disease, susceptibility to, 2, Waardenburg syndrome type 4A	Conflicting interpretations of pathogenicity (Dec 8, 2020)	criteria provided, conflicting interpretations
Select item 1664176.	NM_000115.5(EDNRB):c.-51-949A>T GRCh37: Chr13:78493708 GRCh38: Chr13:77919573	EDNRB, LOC107882129	K15*	Hirschsprung disease, susceptibility to, 2	risk factor (Jan 1, 2010)	no assertion criteria provided
Select item 1663877.	NM_001122659.3(EDNRB):c.914G>A (p.Ser305Asn) GRCh37: Chr13:78475230 GRCh38: Chr13:77901095	EDNRB, EDNRB-AS1	S305N, S395N	Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant, not specified, not provided, Hirschsprung disease, susceptibility to, 2, Waardenburg syndrome type 4A, Waardenburg syndrome type 2A	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 1663778.	NM_001122659.3(EDNRB):c.169G>A (p.Gly57Ser) GRCh37: Chr13:78492540 GRCh38: Chr13:77918405	EDNRB	G57S, G147S	not specified, not provided, Hirschsprung disease, susceptibility to, 2	Conflicting interpretations of pathogenicity (Oct 31, 2022)	criteria provided, conflicting interpretations
Select item 1663679.	NM_001122659.3(EDNRB):c.877dup (p.Tyr293fs) GRCh37: Chr13:78475266-78475267 GRCh38: Chr13:77901131-77901132	EDNRB, EDNRB-AS1	Y383fs, Y293fs	Hirschsprung disease, susceptibility to, 2	risk factor (Mar 1, 1996)	no assertion criteria provided
Select item 1663580.	NM_001122659.3(EDNRB):c.824G>A (p.Trp275Ter) GRCh37: Chr13:78475320 GRCh38: Chr13:77901185	EDNRB, EDNRB-AS1	W275, W365	Hirschsprung disease, susceptibility to, 2	risk factor (Mar 1, 1996)	no assertion criteria provided
Select item 1663381.	NM_001122659.3(EDNRB):c.828G>T (p.Trp276Cys) GRCh37: Chr13:78475316 GRCh38: Chr13:77901181	EDNRB, EDNRB-AS1	W276C, W366C	not provided, Waardenburg syndrome type 4A	Conflicting interpretations of pathogenicity (Dec 22, 2022)	criteria provided, conflicting interpretations

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Items: 81