Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_005199.5(CHRNG):c.715C>T (p.Arg239Cys)	SNV Germline	Chr2:232542992	Pathogenic	Lethal multiple pterygium syndrome Autosomal recessive multiple pterygium syndrome Condition: not provided Fetal anomalies with a likely genetic cause	Criteria Provided Multiple Submitters No Conflicts	CA128049	rs_121912670	8 SubmittersRCV000020004 RCV000020003 RCV003556054 RCV006697546
NM_005199.5(CHRNG):c.1408C>T (p.Arg470Ter)	SNV Germline	Chr2:232545570	Likely pathogenic	Autosomal recessive multiple pterygium syndrome Lethal multiple pterygium syndrome Autosomal recessive multiple pterygium syndrome	Criteria Provided Single Submitter	CA128050	rs_121912671	2 SubmittersRCV000020006 RCV005025075
NM_005199.5(CHRNG):c.320T>G (p.Val107Gly)	SNV Germline	Chr2:232540681	Likely pathogenic	Autosomal recessive multiple pterygium syndrome Lethal multiple pterygium syndrome	Criteria Provided Single Submitter	CA128052	rs_267606726	2 SubmittersRCV000020007 RCV000020008
NM_005199.5(CHRNG):c.136C>T (p.Arg46Ter)	SNV Germline	Chr2:232540072	Pathogenic	Autosomal recessive multiple pterygium syndrome Condition: not provided Lethal multiple pterygium syndrome Autosomal recessive multiple pterygium syndrome Lethal multiple pterygium syndrome	Criteria Provided Multiple Submitters No Conflicts	CA128053	rs_121912672	8 SubmittersRCV000020009 RCV001781290 RCV001822997 RCV005406756
NM_000751.3(CHRND):c.866C>T (p.Ser289Phe)	SNV Germline	Chr2:232531397	Likely pathogenic	Congenital myasthenic syndrome 3A Lethal multiple pterygium syndrome	Criteria Provided Single Submitter	CA128062	rs_121909502	2 SubmittersRCV000020031 RCV001218475
NM_000751.3(CHRND):c.812C>A (p.Pro271Gln)	SNV Germline	Chr2:232530131	Likely pathogenic	Congenital myasthenic syndrome 3B Congenital myasthenic syndrome 3B Congenital myasthenic syndrome 3C Lethal multiple pterygium syndrome	Criteria Provided Single Submitter	CA128063	rs_121909503	2 SubmittersRCV000020032 RCV006684514
NM_000751.3(CHRND):c.234G>A (p.Trp78Ter)	SNV Germline	Chr2:232527436	Pathogenic	Lethal multiple pterygium syndrome Condition: not provided Congenital myasthenic syndrome 3B Congenital myasthenic syndrome 3B Congenital myasthenic syndrome 3C Congenital myasthenic syndrome 3A Congenital myasthenic syndrome 3B Congenital myasthenic syndrome 3C Lethal multiple pterygium syndrome	Criteria Provided Multiple Submitters No Conflicts	CA128067	rs_121909505	6 SubmittersRCV000020036 RCV001093255 RCV002288514 RCV005409603 RCV006249355
NM_000751.3(CHRND):c.283T>C (p.Phe95Leu)	SNV Germline	Chr2:232528301	Pathogenic	Lethal multiple pterygium syndrome	No Assertion Criteria Provided	CA128069	rs_121909506	1 SubmittersRCV000020037
NM_000079.4(CHRNA1):c.517G>A (p.Gly173Ser)	SNV Germline	Chr2:174754242	Pathogenic/Likely pathogenic	Congenital myasthenic syndrome 1A Lethal multiple pterygium syndrome Condition: not provided Congenital myasthenic syndrome 1A Lethal multiple pterygium syndrome Myasthenic syndrome, congenital, 1B, fast-channel Congenital myasthenic syndrome 1A Myasthenic syndrome, congenital, 1B, fast-channel Congenital myopathy	Criteria Provided Multiple Submitters No Conflicts	CA258183	rs_137852801	7 SubmittersRCV000020047 RCV000556947 RCV001564390 RCV005409604 RCV005409605 RCV004586016
NM_000079.4(CHRNA1):c.805G>T (p.Val269Phe)	SNV Germline	Chr2:174750143	Conflicting classifications of pathogenicity	Congenital myasthenic syndrome 1A Inborn genetic diseases Lethal multiple pterygium syndrome Myasthenic syndrome, congenital, 1B, fast-channel	Criteria Provided Conflicting Classifications	CA258187	rs_137852803	4 SubmittersRCV000020049 RCV000623150 RCV001851960 RCV005409606
NM_000079.4(CHRNA1):c.757T>G (p.Phe253Val)	SNV Germline	Chr2:174753524	Likely pathogenic	Myasthenic syndrome, congenital, 1B, fast-channel Lethal multiple pterygium syndrome	Criteria Provided Single Submitter	CA128078	rs_137852805	2 SubmittersRCV000020051 RCV003517130
NM_000079.4(CHRNA1):c.997C>T (p.Arg333Trp)	SNV Germline	Chr2:174749951	Pathogenic/Likely pathogenic	Myasthenic syndrome, congenital, 1B, fast-channel Lethal multiple pterygium syndrome Condition: not provided Slow-Channel Congenital Myasthenia Syndrome	Criteria Provided Multiple Submitters No Conflicts	CA1974412	rs_374391312	5 SubmittersRCV000022418 RCV000803477 RCV002255118 RCV006688361
NM_000079.4(CHRNA1):c.737C>T (p.Ser246Phe)	SNV Germline	Chr2:174753544	Conflicting classifications of pathogenicity	Slow-Channel Congenital Myasthenia Syndrome Lethal multiple pterygium syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA269930	rs_483353046	4 SubmittersRCV000122733 RCV001047612 RCV002291564
NM_000751.3(CHRND):c.1204G>A (p.Glu402Lys)	SNV Germline	Chr2:232534087	Conflicting classifications of pathogenicity	Congenital myasthenic syndrome 3C Lethal multiple pterygium syndrome Congenital myasthenic syndrome 3B Condition: not provided	Criteria Provided Conflicting Classifications	CA2168289	rs_145955590	5 SubmittersRCV000170317 RCV001365568 RCV002227450 RCV002510806
NM_000751.3(CHRND):c.44C>T (p.Ala15Val)	SNV Germline	Chr2:232526259	Conflicting classifications of pathogenicity	not specified Lethal multiple pterygium syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA238633	rs_142531974	4 SubmittersRCV000173168 RCV000557059 RCV000724009
NM_000751.3(CHRND):c.1105C>T (p.Pro369Ser)	SNV Germline	Chr2:232533988	Conflicting classifications of pathogenicity	not specified Condition: not provided Lethal multiple pterygium syndrome Congenital myasthenic syndrome Congenital myasthenic syndrome 3A	Criteria Provided Conflicting Classifications	CA200681	rs_2229194	10 SubmittersRCV000173709 RCV000224550 RCV001079470 RCV001138073 RCV001198096
NM_000751.3(CHRND):c.1400G>A (p.Arg467His)	SNV Germline	Chr2:232535158	Conflicting classifications of pathogenicity	not specified Lethal multiple pterygium syndrome Congenital myasthenic syndrome Condition: not provided CHRND-related disorder	Criteria Provided Conflicting Classifications	CA200909	rs_148939701	9 SubmittersRCV000174260 RCV000530315 RCV001142919 RCV001657944 RCV003891709
NM_000079.4(CHRNA1):c.655C>T (p.Leu219=)	SNV Germline	Chr2:174753626	Conflicting classifications of pathogenicity	not specified Congenital myasthenic syndrome Condition: not provided Lethal multiple pterygium syndrome	Criteria Provided Conflicting Classifications	CA246525	rs_150638770	7 SubmittersRCV000246828 RCV000277508 RCV000724411 RCV001086080
NM_000079.4(CHRNA1):c.948C>A (p.Ile316=)	SNV Germline	Chr2:174750000	Conflicting classifications of pathogenicity	Condition: not provided Lethal multiple pterygium syndrome CHRNA1-related disorder	Criteria Provided Conflicting Classifications	CA247022	rs_141733086	3 SubmittersRCV000179711 RCV001087107 RCV003955088
NM_005199.5(CHRNG):c.775G>A (p.Ala259Thr)	SNV Germline	Chr2:232543052	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive multiple pterygium syndrome Lethal multiple pterygium syndrome	Criteria Provided Conflicting Classifications	CA247217	rs_138125827	3 SubmittersRCV000179901 RCV000309135 RCV001094614
NM_000751.3(CHRND):c.933-9T>C	SNV Germline	Chr2:232531533	Conflicting classifications of pathogenicity	Condition: not provided Lethal multiple pterygium syndrome	Criteria Provided Conflicting Classifications	CA248016	rs_199592458	2 SubmittersRCV000180528 RCV001078950
NM_005199.5(CHRNG):c.428C>G (p.Pro143Arg)	SNV Germline	Chr2:232541451	Pathogenic	Autosomal recessive multiple pterygium syndrome Lethal multiple pterygium syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA210351	rs_765746795	4 SubmittersRCV000201797 RCV001775100 RCV003556250
NM_005199.5(CHRNG):c.1115C>T (p.Ser372Phe)	SNV Germline	Chr2:232544446	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive multiple pterygium syndrome Lethal multiple pterygium syndrome Lethal multiple pterygium syndrome Autosomal recessive multiple pterygium syndrome CHRNG-related disorder	Criteria Provided Conflicting Classifications	CA2168943	rs_145433186	9 SubmittersRCV000224861 RCV000509333 RCV001141632 RCV001141631 RCV004541362
NM_000751.3(CHRND):c.198+14C>T	SNV Germline	Chr2:232526688	Conflicting classifications of pathogenicity	not specified Lethal multiple pterygium syndrome Congenital myasthenic syndrome	Criteria Provided Conflicting Classifications	CA2167926	rs_199538903	3 SubmittersRCV000246502 RCV001137972 RCV001137971
NM_000751.3(CHRND):c.817G>A (p.Asp273Asn)	SNV Germline	Chr2:232530136	Conflicting classifications of pathogenicity	Lethal multiple pterygium syndrome Condition: not provided CHRND-related disorder	Criteria Provided Conflicting Classifications	CA2168139	rs_202209156	5 SubmittersRCV000551038 RCV001711662 RCV003891859
NM_005199.5(CHRNG):c.471C>T (p.Phe157=)	SNV Germline	Chr2:232541494	Conflicting classifications of pathogenicity	not specified Condition: not provided Lethal multiple pterygium syndrome	Criteria Provided Conflicting Classifications	CA2168674	rs_143272752	4 SubmittersRCV000254481 RCV000874618 RCV001094714
NM_000751.3(CHRND):c.919C>T (p.Pro307Ser)	SNV Germline	Chr2:232531450	Conflicting classifications of pathogenicity	Congenital myasthenic syndrome Condition: not provided Lethal multiple pterygium syndrome Congenital myasthenic syndrome 3A Congenital myasthenic syndrome 3B Congenital myasthenic syndrome 3C Lethal multiple pterygium syndrome not specified	Criteria Provided Conflicting Classifications	CA2168190	rs_142063328	11 SubmittersRCV000289236 RCV000724895 RCV000764381 RCV001081973 RCV006439906
NM_000751.3(CHRND):c.727C>T (p.Arg243Cys)	SNV Germline	Chr2:232530046	Conflicting classifications of pathogenicity	Condition: not provided Congenital myasthenic syndrome Lethal multiple pterygium syndrome Congenital myasthenic syndrome 3C Congenital myasthenic syndrome 3A Congenital myasthenic syndrome 3B Lethal multiple pterygium syndrome not specified Congenital myasthenic syndrome 3A	Criteria Provided Conflicting Classifications	CA2168125	rs_201733876	8 SubmittersRCV000285578 RCV000295199 RCV000526402 RCV000764380 RCV001731557 RCV002227466
NM_005199.5(CHRNG):c.663G>A (p.Ala221=)	SNV Germline	Chr2:232542940	Conflicting classifications of pathogenicity	Condition: not provided Lethal multiple pterygium syndrome Autosomal recessive multiple pterygium syndrome	Criteria Provided Conflicting Classifications	CA2168765	rs_150556220	4 SubmittersRCV000297688 RCV001143346 RCV001143347
NM_000751.3(CHRND):c.1125G>A (p.Val375=)	SNV Germline	Chr2:232534008	Conflicting classifications of pathogenicity	Condition: not provided Lethal multiple pterygium syndrome	Criteria Provided Conflicting Classifications	CA2168270	rs_143246852	3 SubmittersRCV000278066 RCV000642122
NM_000751.3(CHRND):c.1530C>T (p.Asn510=)	SNV Germline	Chr2:232535288	Conflicting classifications of pathogenicity	Condition: not provided Congenital myasthenic syndrome Lethal multiple pterygium syndrome	Criteria Provided Conflicting Classifications	CA2168375	rs_114463490	3 SubmittersRCV000285515 RCV000293023 RCV001084935
NM_005199.5(CHRNG):c.1381G>A (p.Gly461Arg)	SNV Germline	Chr2:232545543	Conflicting classifications of pathogenicity	Autosomal recessive multiple pterygium syndrome not specified Lethal multiple pterygium syndrome Condition: not provided CHRNG-associated hypo-akinesia disorder of prenatal onset	Criteria Provided Conflicting Classifications	CA2169054	rs_143800157	5 SubmittersRCV000301272 RCV000382886 RCV001094623 RCV001689958 RCV005355615
NM_000079.4(CHRNA1):c.1139T>C (p.Met380Thr)	SNV Germline	Chr2:174748683	Conflicting classifications of pathogenicity	Condition: not provided Lethal multiple pterygium syndrome	Criteria Provided Conflicting Classifications	CA1974360	rs_149292107	3 SubmittersRCV000362834 RCV001087747
NM_000079.4(CHRNA1):c.1293C>T (p.Leu431=)	SNV Germline	Chr2:174748205	Conflicting classifications of pathogenicity	Congenital myasthenic syndrome Lethal multiple pterygium syndrome Condition: not provided CHRNA1-related disorder	Criteria Provided Conflicting Classifications	CA1974307	rs_146899588	4 SubmittersRCV000358139 RCV000875271 RCV003884493 RCV003957712
NM_000079.4(CHRNA1):c.*422G>T	SNV Germline	Chr2:174747702	Conflicting classifications of pathogenicity	Lethal multiple pterygium syndrome Congenital myasthenic syndrome	Criteria Provided Conflicting Classifications	CA10611916	rs_184095877	1 SubmittersRCV000267328 RCV000320358
NM_000079.4(CHRNA1):c.*411G>A	SNV Germline	Chr2:174747713	Conflicting classifications of pathogenicity	Lethal multiple pterygium syndrome Congenital myasthenic syndrome	Criteria Provided Conflicting Classifications	CA10611918	rs_560280191	1 SubmittersRCV000319128 RCV000371665
NM_000079.4(CHRNA1):c.1002+9G>A	SNV Germline	Chr2:174749937	Conflicting classifications of pathogenicity	Congenital myasthenic syndrome Lethal multiple pterygium syndrome CHRNA1-related disorder	Criteria Provided Conflicting Classifications	CA1974407	rs_368959759	3 SubmittersRCV000275802 RCV000642126 RCV003972404
NM_000079.4(CHRNA1):c.705C>A (p.Ile235=)	SNV Germline	Chr2:174753576	Conflicting classifications of pathogenicity	Congenital myasthenic syndrome Lethal multiple pterygium syndrome CHRNA1-related disorder	Criteria Provided Conflicting Classifications	CA1974490	rs_143252724	3 SubmittersRCV000312777 RCV000367342 RCV004751482
NM_005199.5(CHRNG):c.196-9C>T	SNV Germline	Chr2:232540372	Conflicting classifications of pathogenicity	Autosomal recessive multiple pterygium syndrome Lethal multiple pterygium syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA2168549	rs_182635953	2 SubmittersRCV000305721 RCV001094747 RCV003765948
NM_005199.5(CHRNG):c.806-13C>T	SNV Germline	Chr2:232543262	Conflicting classifications of pathogenicity	Lethal multiple pterygium syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA2168814	rs_375760045	2 SubmittersRCV001094615 RCV003765951
NM_005199.5(CHRNG):c.928A>T (p.Thr310Ser)	SNV Germline	Chr2:232543592	Conflicting classifications of pathogenicity	Autosomal recessive multiple pterygium syndrome Lethal multiple pterygium syndrome Condition: not provided CHRNG-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2168866	rs_145830034	5 SubmittersRCV000275111 RCV001094663 RCV003327396 RCV004530364 RCV002523122
NM_005199.5(CHRNG):c.1378A>G (p.Asn460Asp)	SNV Germline	Chr2:232544900	Conflicting classifications of pathogenicity	Lethal multiple pterygium syndrome Condition: not provided CHRNG-associated hypo-akinesia disorder of prenatal onset	Criteria Provided Conflicting Classifications	CA2169032	rs_138232636	3 SubmittersRCV001094622 RCV003765954 RCV005365252
NM_000079.4(CHRNA1):c.1294G>A (p.Gly432Arg)	SNV Germline	Chr2:174748204	Conflicting classifications of pathogenicity	Congenital myasthenic syndrome Lethal multiple pterygium syndrome Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1974306	rs_151081792	4 SubmittersRCV000303322 RCV000824373 RCV003144218 RCV002523096
NM_000079.4(CHRNA1):c.813G>A (p.Leu271=)	SNV Germline	Chr2:174750135	Conflicting classifications of pathogenicity	Congenital myasthenic syndrome Lethal multiple pterygium syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA1974438	rs_374093236	3 SubmittersRCV000377470 RCV000874309 RCV003884494
NM_000079.4(CHRNA1):c.319C>T (p.Arg107Cys)	SNV Germline	Chr2:174757591	Conflicting classifications of pathogenicity	Congenital myasthenic syndrome Lethal multiple pterygium syndrome Juvenile myoclonic epilepsy Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1974592	rs_140268343	5 SubmittersRCV000380558 RCV000543342 RCV000678786 RCV003144220 RCV002521336
NM_000079.4(CHRNA1):c.224G>A (p.Arg75His)	SNV Germline	Chr2:174759341	Conflicting classifications of pathogenicity	Congenital myasthenic syndrome Lethal multiple pterygium syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA1974662	rs_147488907	7 SubmittersRCV000281666 RCV000530873 RCV001090465
NM_000079.4(CHRNA1):c.111C>T (p.Ser37=)	SNV Germline	Chr2:174759566	Conflicting classifications of pathogenicity	Lethal multiple pterygium syndrome Congenital myasthenic syndrome	Criteria Provided Conflicting Classifications	CA10612846	rs_886055151	2 SubmittersRCV000351967 RCV000392287
NM_000079.4(CHRNA1):c.-37A>G	SNV Germline	Chr2:174764431	Conflicting classifications of pathogenicity	Congenital myasthenic syndrome Lethal multiple pterygium syndrome CHRNA1-related disorder	Criteria Provided Conflicting Classifications	CA1974743	rs_182459320	2 SubmittersRCV000308236 RCV000362888 RCV003940335
NM_000079.4(CHRNA1):c.1332C>T (p.Ala444=)	SNV Germline	Chr2:174748166	Conflicting classifications of pathogenicity	Congenital myasthenic syndrome Lethal multiple pterygium syndrome	Criteria Provided Conflicting Classifications	CA1974300	rs_771587252	2 SubmittersRCV000347779 RCV000642120
NM_000079.4(CHRNA1):c.1248G>A (p.Ala416=)	SNV Germline	Chr2:174748250	Conflicting classifications of pathogenicity	Congenital myasthenic syndrome Lethal multiple pterygium syndrome	Criteria Provided Conflicting Classifications	CA1974318	rs_17838545	2 SubmittersRCV000304338 RCV000871752
NM_000751.3(CHRND):c.1252+10C>T	SNV Germline	Chr2:232534145	Conflicting classifications of pathogenicity	Congenital myasthenic syndrome Lethal multiple pterygium syndrome	Criteria Provided Conflicting Classifications	CA2168299	rs_373581541	2 SubmittersRCV000305998 RCV000353833
NM_005199.5(CHRNG):c.357C>T (p.Asp119=)	SNV Germline	Chr2:232541380	Conflicting classifications of pathogenicity	Autosomal recessive multiple pterygium syndrome Lethal multiple pterygium syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA2168642	rs_749995118	2 SubmittersRCV000265832 RCV001094610 RCV003765949
NM_005199.5(CHRNG):c.1074C>T (p.His358=)	SNV Germline	Chr2:232544405	Conflicting classifications of pathogenicity	Autosomal recessive multiple pterygium syndrome Condition: not provided Lethal multiple pterygium syndrome	Criteria Provided Conflicting Classifications	CA2168928	rs_761581720	2 SubmittersRCV000284054 RCV000922574 RCV001094666
NM_000751.3(CHRND):c.525G>A (p.Thr175=)	SNV Germline	Chr2:232528877	Conflicting classifications of pathogenicity	Congenital myasthenic syndrome Lethal multiple pterygium syndrome	Criteria Provided Conflicting Classifications	CA2168060	rs_56203086	2 SubmittersRCV000374066 RCV000887600
NM_000751.3(CHRND):c.1253-9C>T	SNV Germline	Chr2:232534215	Conflicting classifications of pathogenicity	Congenital myasthenic syndrome Lethal multiple pterygium syndrome	Criteria Provided Conflicting Classifications	CA2168313	rs_2853458	2 SubmittersRCV000272177 RCV000875263
NM_000751.3(CHRND):c.1359C>T (p.Asn453=)	SNV Germline	Chr2:232534330	Conflicting classifications of pathogenicity	Congenital myasthenic syndrome Lethal multiple pterygium syndrome	Criteria Provided Conflicting Classifications	CA2168327	rs_776972228	2 SubmittersRCV000327287 RCV000381775
NM_005199.5(CHRNG):c.129C>T (p.Pro43=)	SNV Germline	Chr2:232540065	Conflicting classifications of pathogenicity	Autosomal recessive multiple pterygium syndrome Condition: not provided Lethal multiple pterygium syndrome	Criteria Provided Conflicting Classifications	CA2168510	rs_151276788	2 SubmittersRCV000300315 RCV000876796 RCV001094656
NM_005199.5(CHRNG):c.1230G>A (p.Ala410=)	SNV Germline	Chr2:232544561	Conflicting classifications of pathogenicity	Lethal multiple pterygium syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA2168976	rs_144948513	2 SubmittersRCV001094620 RCV003688844
NM_005199.5(CHRNG):c.1259C>T (p.Pro420Leu)	SNV Germline	Chr2:232544781	Conflicting classifications of pathogenicity	Lethal multiple pterygium syndrome Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2169009	rs_146674765	3 SubmittersRCV001094621 RCV003765953 RCV005318378
NM_000751.3(CHRND):c.411C>T (p.Gly137=)	SNV Germline	Chr2:232528558	Conflicting classifications of pathogenicity	Congenital myasthenic syndrome Lethal multiple pterygium syndrome CHRND-related disorder	Criteria Provided Conflicting Classifications	CA2168022	rs_373578965	3 SubmittersRCV000265153 RCV000536996 RCV003969965
NM_000751.3(CHRND):c.651G>A (p.Pro217=)	SNV Germline	Chr2:232529970	Conflicting classifications of pathogenicity	Congenital myasthenic syndrome Lethal multiple pterygium syndrome	Criteria Provided Conflicting Classifications	CA2168111	rs_146205427	2 SubmittersRCV000329975 RCV000871116
NM_000751.3(CHRND):c.893G>A (p.Arg298His)	SNV Germline	Chr2:232531424	Conflicting classifications of pathogenicity	Congenital myasthenic syndrome Lethal multiple pterygium syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA2168184	rs_139722128	3 SubmittersRCV000352373 RCV000808385 RCV003144223
NM_000751.3(CHRND):c.1253-10T>G	SNV Germline	Chr2:232534214	Conflicting classifications of pathogenicity	Congenital myasthenic syndrome Lethal multiple pterygium syndrome	Criteria Provided Conflicting Classifications	CA2168312	rs_199508773	2 SubmittersRCV000266455 RCV000871417
NM_005199.5(CHRNG):c.57G>C (p.Gly19=)	SNV Germline	Chr2:232539993	Conflicting classifications of pathogenicity	Lethal multiple pterygium syndrome Condition: not provided CHRNG-related disorder	Criteria Provided Conflicting Classifications	CA2168489	rs_753421728	3 SubmittersRCV001094655 RCV003698772 RCV004735485
NM_005199.5(CHRNG):c.367G>A (p.Glu123Lys)	SNV Germline	Chr2:232541390	Conflicting classifications of pathogenicity	Lethal multiple pterygium syndrome Condition: not provided CHRNG-associated hypo-akinesia disorder of prenatal onset	Criteria Provided Conflicting Classifications	CA2168646	rs_199937736	3 SubmittersRCV001094611 RCV003765950 RCV005355657
NM_005199.5(CHRNG):c.474C>T (p.Pro158=)	SNV Germline	Chr2:232541497	Conflicting classifications of pathogenicity	Lethal multiple pterygium syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA10614839	rs_145907618	2 SubmittersRCV001094715 RCV003718210
NM_000751.3(CHRND):c.946G>A (p.Gly316Ser)	SNV Germline	Chr2:232531555	Conflicting classifications of pathogenicity	not specified Lethal multiple pterygium syndrome Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2168214	rs_139190636	5 SubmittersRCV000413500 RCV000532746 RCV003144251 RCV004022175
NM_005199.5(CHRNG):c.125G>A (p.Arg42Gln)	SNV Germline	Chr2:232540061	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive multiple pterygium syndrome not specified Lethal multiple pterygium syndrome CHRNG-related disorder	Criteria Provided Conflicting Classifications	CA2168508	rs_148468628	10 SubmittersRCV000420882 RCV001138818 RCV001354901 RCV001138817 RCV004544730
NM_000751.3(CHRND):c.1048-7G>T	SNV Germline	Chr2:232533924	Conflicting classifications of pathogenicity	not specified Lethal multiple pterygium syndrome	Criteria Provided Conflicting Classifications	CA2168255	rs_369026633	3 SubmittersRCV000435091 RCV001446555
NM_000751.3(CHRND):c.414C>T (p.Phe138=)	SNV Germline	Chr2:232528561	Conflicting classifications of pathogenicity	Lethal multiple pterygium syndrome Congenital myasthenic syndrome Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA2168023	rs_150208750	5 SubmittersRCV000549495 RCV001140968 RCV001704263 RCV006447172
NM_005199.5(CHRNG):c.256C>T (p.Arg86Cys)	SNV Germline	Chr2:232540617	Pathogenic/Likely pathogenic	Peripheral neuropathy Condition: not provided Autosomal recessive multiple pterygium syndrome Lethal multiple pterygium syndrome Lethal multiple pterygium syndrome Autosomal recessive multiple pterygium syndrome	Criteria Provided Multiple Submitters No Conflicts	CA2168586	rs_777219451	11 SubmittersRCV000449634 RCV000762330 RCV001007785 RCV003479120 RCV005027495
NM_000079.4(CHRNA1):c.235-323G>A	SNV Germline	Chr2:174757998	Conflicting classifications of pathogenicity	Condition: not provided Lethal multiple pterygium syndrome Myasthenic syndrome, congenital, 1B, fast-channel CHRNA1-related disorder	Criteria Provided Conflicting Classifications	CA1974638	rs_750955953	5 SubmittersRCV000478345 RCV004791492 RCV004751560
NM_000751.3(CHRND):c.127C>T (p.Arg43Trp)	SNV Germline	Chr2:232526603	Pathogenic/Likely pathogenic	Condition: not provided Lethal multiple pterygium syndrome Congenital myasthenic syndrome 3A	Criteria Provided Multiple Submitters No Conflicts	CA2167903	rs_55868108	4 SubmittersRCV000485087 RCV000805114 RCV001332575
NM_000751.3(CHRND):c.933-2A>G	SNV Germline	Chr2:232531540	Likely pathogenic	Condition: not provided Lethal multiple pterygium syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16617496	rs_1064795719	2 SubmittersRCV000482356 RCV005090961
NM_005199.5(CHRNG):c.130G>A (p.Ala44Thr)	SNV Germline	Chr2:232540066	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive multiple pterygium syndrome Lethal multiple pterygium syndrome	Criteria Provided Conflicting Classifications	CA2168512	rs_186589083	3 SubmittersRCV000481365 RCV001141397 RCV001141396
NM_000079.4(CHRNA1):c.778G>T (p.Gly260Trp)	SNV Germline	Chr2:174753503	Conflicting classifications of pathogenicity	Condition: not provided Lethal multiple pterygium syndrome Congenital myasthenic syndrome 1A	Criteria Provided Conflicting Classifications	CA349338630	rs_1131691893	3 SubmittersRCV000494647 RCV005091049 RCV005355995
NM_000079.4(CHRNA1):c.175C>T (p.Gln59Ter)	SNV Germline	Chr2:174759502	Pathogenic	Condition: not provided Lethal multiple pterygium syndrome	Criteria Provided Multiple Submitters No Conflicts	CA1974690	rs_750329103	2 SubmittersRCV000494143 RCV003114619
NM_000079.4(CHRNA1):c.1321G>A (p.Gly441Arg)	SNV Germline	Chr2:174748177	Pathogenic/Likely pathogenic	Condition: not provided Lethal multiple pterygium syndrome Autism Seizure Centronuclear myopathy	Criteria Provided Multiple Submitters No Conflicts	CA1974303	rs_768407867	6 SubmittersRCV000522179 RCV000542688 RCV000679850 RCV004586756
NM_000079.4(CHRNA1):c.912C>T (p.Phe304=)	SNV Germline	Chr2:174750036	Conflicting classifications of pathogenicity	Lethal multiple pterygium syndrome Congenital myasthenic syndrome	Criteria Provided Conflicting Classifications	CA1974426	rs_373005571	2 SubmittersRCV000551830 RCV001136151
NM_000079.4(CHRNA1):c.711C>A (p.Asn237Lys)	SNV Germline	Chr2:174753570	Pathogenic	Lethal multiple pterygium syndrome	Criteria Provided Single Submitter	CA349339147	rs_137852798	1 SubmittersRCV000534544
NM_000751.3(CHRND):c.45G>A (p.Ala15=)	SNV Germline	Chr2:232526260	Conflicting classifications of pathogenicity	Lethal multiple pterygium syndrome Congenital myasthenic syndrome	Criteria Provided Conflicting Classifications	CA2167862	rs_138609765	2 SubmittersRCV000537628 RCV001142713
NM_000751.3(CHRND):c.1367A>G (p.Asn456Ser)	SNV Germline	Chr2:232534338	Conflicting classifications of pathogenicity	Lethal multiple pterygium syndrome Condition: not provided Congenital myasthenic syndrome	Criteria Provided Conflicting Classifications	CA2168330	rs_144433265	4 SubmittersRCV000542114 RCV000762329 RCV001141061
NM_000751.3(CHRND):c.728G>A (p.Arg243His)	SNV Germline	Chr2:232530047	Conflicting classifications of pathogenicity	Lethal multiple pterygium syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA2168126	rs_148869069	3 SubmittersRCV000538556 RCV001357055
NM_005199.5(CHRNG):c.1210C>T (p.Gln404Ter)	SNV Germline	Chr2:232544541	Pathogenic	Lethal multiple pterygium syndrome	Criteria Provided Single Submitter	CA351016040	rs_1553578312	1 SubmittersRCV000576904
NM_005199.5(CHRNG):c.330G>A (p.Pro110=)	SNV Germline	Chr2:232540691	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive multiple pterygium syndrome Lethal multiple pterygium syndrome	Criteria Provided Conflicting Classifications	CA2168609	rs_149931943	3 SubmittersRCV000596166 RCV001136677 RCV001136678
NM_000751.3(CHRND):c.1446G>A (p.Val482=)	SNV Germline	Chr2:232535204	Conflicting classifications of pathogenicity	Condition: not provided Lethal multiple pterygium syndrome	Criteria Provided Conflicting Classifications	CA431809115	rs_1352698710	2 SubmittersRCV000592416 RCV005091564
NM_000751.3(CHRND):c.769T>C (p.Cys257Arg)	SNV Germline	Chr2:232530088	Pathogenic/Likely pathogenic	Lethal multiple pterygium syndrome CHRND-related disorder Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA66952998	rs_776218605	3 SubmittersRCV000642109 RCV005407835 RCV005632546
NM_000751.3(CHRND):c.1127G>A (p.Arg376Gln)	SNV Germline	Chr2:232534010	Conflicting classifications of pathogenicity	Lethal multiple pterygium syndrome Condition: not provided Congenital myasthenic syndrome	Criteria Provided Conflicting Classifications	CA2168272	rs_749866545	4 SubmittersRCV000642118 RCV000731206 RCV001138498
NM_000751.3(CHRND):c.1455A>G (p.Thr485=)	SNV Germline	Chr2:232535213	Conflicting classifications of pathogenicity	Lethal multiple pterygium syndrome Congenital myasthenic syndrome	Criteria Provided Conflicting Classifications	CA2168364	rs_756537437	2 SubmittersRCV000642129 RCV001142920
NM_005199.5(CHRNG):c.202C>T (p.Arg68Ter)	SNV Germline	Chr2:232540387	Pathogenic/Likely pathogenic	Lethal multiple pterygium syndrome Autosomal recessive multiple pterygium syndrome Arthrogryposis-like hand anomaly Ankle flexion contracture Scoliosis Condition: not provided Autosomal recessive multiple pterygium syndrome Lethal multiple pterygium syndrome	Criteria Provided Multiple Submitters No Conflicts	CA2168554	rs_764266722	7 SubmittersRCV000660641 RCV001257366 RCV001381627 RCV003992363 RCV004596320
NM_000079.4(CHRNA1):c.280G>T (p.Gly94Cys)	SNV Germline	Chr2:174757630	Conflicting classifications of pathogenicity	Lethal multiple pterygium syndrome Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA1974603	rs_199470444	4 SubmittersRCV000685192 RCV003144481 RCV005240459
NM_000079.4(CHRNA1):c.64G>A (p.Glu22Lys)	SNV Germline	Chr2:174759613	Conflicting classifications of pathogenicity	Lethal multiple pterygium syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA1974707	rs_368979094	2 SubmittersRCV000698047 RCV003144542
NM_000079.4(CHRNA1):c.1067A>C (p.Lys356Thr)	SNV Germline	Chr2:174748755	Conflicting classifications of pathogenicity	Lethal multiple pterygium syndrome Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA1974372	rs_146863119	3 SubmittersRCV000701057 RCV002533611 RCV003144553
NM_000751.3(CHRND):c.389A>T (p.Asn130Ile)	SNV Germline	Chr2:232528536	Conflicting classifications of pathogenicity	Condition: not provided Lethal multiple pterygium syndrome	Criteria Provided Conflicting Classifications	CA350997872	rs_1553574327	2 SubmittersRCV000711200 RCV001039702
NM_000751.3(CHRND):c.730C>T (p.Arg244Cys)	SNV Germline	Chr2:232530049	Conflicting classifications of pathogenicity	Condition: not provided Lethal multiple pterygium syndrome	Criteria Provided Conflicting Classifications	CA2168127	rs_376642208	2 SubmittersRCV000711201 RCV001039701
NM_005199.5(CHRNG):c.274C>T (p.Arg92Ter)	SNV Germline	Chr2:232540635	Pathogenic/Likely pathogenic	Condition: not provided Autosomal recessive multiple pterygium syndrome Lethal multiple pterygium syndrome	Criteria Provided Multiple Submitters No Conflicts	CA351007525	rs_1559302834	3 SubmittersRCV000757091 RCV002493380
NM_000751.3(CHRND):c.1480T>C (p.Tyr494His)	SNV Germline	Chr2:232535238	Conflicting classifications of pathogenicity	Lethal multiple pterygium syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA2168369	rs_368695808	3 SubmittersRCV000803667 RCV003144625
NM_000751.3(CHRND):c.821-2A>C	SNV Germline	Chr2:232531350	Pathogenic/Likely pathogenic	Lethal multiple pterygium syndrome Congenital myasthenic syndrome 3C Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA2168172	rs_762875734	3 SubmittersRCV000799156 RCV003147550 RCV004696997
NM_000751.3(CHRND):c.880C>T (p.Leu294Phe)	SNV Germline	Chr2:232531411	Conflicting classifications of pathogenicity	Slow-Channel Congenital Myasthenia Syndrome Lethal multiple pterygium syndrome Centronuclear myopathy Condition: not provided Congenital myasthenic syndrome 3A	Criteria Provided Conflicting Classifications	CA351002593	rs_1574633904	5 SubmittersRCV000855540 RCV001858525 RCV004586959 RCV004721652 RCV005870937
NM_000079.4(CHRNA1):c.1064A>G (p.Glu355Gly)	SNV Germline	Chr2:174748758	Conflicting classifications of pathogenicity	Lethal multiple pterygium syndrome Condition: not provided CHRNA1-related disorder not specified	Criteria Provided Conflicting Classifications	CA1974373	rs_144533405	5 SubmittersRCV000876516 RCV003145221 RCV004751774 RCV006265392
NM_000751.3(CHRND):c.27G>C (p.Gly9=)	SNV Germline	Chr2:232526242	Conflicting classifications of pathogenicity	Lethal multiple pterygium syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA2167858	rs_554645326	2 SubmittersRCV000878547 RCV003145225
NM_000751.3(CHRND):c.1477G>A (p.Val493Ile)	SNV Germline	Chr2:232535235	Conflicting classifications of pathogenicity	Lethal multiple pterygium syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA2168367	rs_567130034	2 SubmittersRCV000874279 RCV003145217
NM_000751.3(CHRND):c.849G>A (p.Ser283=)	SNV Germline	Chr2:232531380	Conflicting classifications of pathogenicity	Lethal multiple pterygium syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA2168176	rs_749757968	4 SubmittersRCV001484201 RCV004711447
NM_000751.3(CHRND):c.480C>T (p.Phe160=)	SNV Germline	Chr2:232528627	Conflicting classifications of pathogenicity	Lethal multiple pterygium syndrome Congenital myasthenic syndrome	Criteria Provided Conflicting Classifications	CA2168035	rs_200986300	2 SubmittersRCV000886766 RCV001140969
NM_000079.4(CHRNA1):c.1143C>T (p.Gly381=)	SNV Germline	Chr2:174748679	Conflicting classifications of pathogenicity	Condition: not provided Lethal multiple pterygium syndrome	Criteria Provided Conflicting Classifications	CA1974358	rs_767048858	2 SubmittersRCV000979356 RCV001490179
NM_000751.3(CHRND):c.1007G>A (p.Arg336Gln)	SNV Germline	Chr2:232531616	Likely pathogenic	Lethal multiple pterygium syndrome Condition: not provided CHRND-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA2168225	rs_375623674	3 SubmittersRCV000987056 RCV004697019 RCV005871053
NM_000079.4(CHRNA1):c.370A>T (p.Lys124Ter)	SNV Germline	Chr2:174754389	Pathogenic	Lethal multiple pterygium syndrome	Criteria Provided Single Submitter	CA349341639	rs_1683929269	1 SubmittersRCV001070130
NM_000079.4(CHRNA1):c.137G>A (p.Arg46His)	SNV Germline	Chr2:174759540	Conflicting classifications of pathogenicity	Lethal multiple pterygium syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1974694	rs_149851833	2 SubmittersRCV001054312 RCV004977939
NM_000751.3(CHRND):c.415G>A (p.Val139Met)	SNV Germline	Chr2:232528562	Conflicting classifications of pathogenicity	Lethal multiple pterygium syndrome Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2168024	rs_147452877	3 SubmittersRCV001037592 RCV003156303 RCV003346263
NM_000751.3(CHRND):c.823G>A (p.Gly275Ser)	SNV Germline	Chr2:232531354	Conflicting classifications of pathogenicity	Lethal multiple pterygium syndrome Condition: not provided Congenital myasthenic syndrome 3B Congenital myasthenic syndrome 3C Lethal multiple pterygium syndrome	Criteria Provided Conflicting Classifications	CA2168174	rs_373187583	4 SubmittersRCV001042032 RCV003145273 RCV004731082
NM_000751.3(CHRND):c.1256G>A (p.Arg419Gln)	SNV Germline	Chr2:232534227	Conflicting classifications of pathogenicity	Lethal multiple pterygium syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2168317	rs_564930869	2 SubmittersRCV001060689 RCV005801996
NM_000079.4(CHRNA1):c.*499A>T	SNV Germline	Chr2:174747625	Conflicting classifications of pathogenicity	Lethal multiple pterygium syndrome Congenital myasthenic syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA60846289	rs_574135903	2 SubmittersRCV001131601 RCV001131602 RCV003117777
NM_000079.4(CHRNA1):c.711C>T (p.Asn237=)	SNV Germline	Chr2:174753570	Conflicting classifications of pathogenicity	Congenital myasthenic syndrome Lethal multiple pterygium syndrome not specified	Criteria Provided Conflicting Classifications	CA1974489	rs_137852798	3 SubmittersRCV001129175 RCV001129174 RCV006455456
NM_000079.4(CHRNA1):c.2T>C (p.Met1Thr)	SNV Germline	Chr2:174764393	Conflicting classifications of pathogenicity	Condition: not provided Lethal multiple pterygium syndrome Congenital myasthenic syndrome	Criteria Provided Conflicting Classifications	CA1974733	rs_779169597	4 SubmittersRCV001564791 RCV001136251 RCV001136252
NM_000751.3(CHRND):c.267G>C (p.Lys89Asn)	SNV Germline	Chr2:232528285	Conflicting classifications of pathogenicity	Lethal multiple pterygium syndrome Congenital myasthenic syndrome	Criteria Provided Conflicting Classifications	CA2167978	rs_545298641	2 SubmittersRCV001138386 RCV001138387
NM_000751.3(CHRND):c.*908A>G	SNV Germline	Chr2:232536220	Conflicting classifications of pathogenicity	Congenital myasthenic syndrome Lethal multiple pterygium syndrome	Criteria Provided Conflicting Classifications	CA66959554	rs_547787086	1 SubmittersRCV001141283 RCV001138706
NM_005199.5(CHRNG):c.82C>T (p.Arg28Cys)	SNV Germline	Chr2:232540018	Conflicting classifications of pathogenicity	Autosomal recessive multiple pterygium syndrome Lethal multiple pterygium syndrome Condition: not provided CHRNG-associated hypo-akinesia disorder of prenatal onset	Criteria Provided Conflicting Classifications	CA2168497	rs_140623763	3 SubmittersRCV001138816 RCV001138815 RCV002070634 RCV005367729
NM_005199.5(CHRNG):c.132G>A (p.Ala44=)	SNV Germline	Chr2:232540068	Conflicting classifications of pathogenicity	Lethal multiple pterygium syndrome Autosomal recessive multiple pterygium syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA2168514	rs_141402683	3 SubmittersRCV001141398 RCV001141399 RCV002557005
NM_005199.5(CHRNG):c.426G>A (p.Pro142=)	SNV Germline	Chr2:232541449	Conflicting classifications of pathogenicity	Autosomal recessive multiple pterygium syndrome Lethal multiple pterygium syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA2168662	rs_375894671	3 SubmittersRCV001138914 RCV001138913 RCV003769660
NM_005199.5(CHRNG):c.573G>A (p.Glu191=)	SNV Germline	Chr2:232542489	Conflicting classifications of pathogenicity	Lethal multiple pterygium syndrome Autosomal recessive multiple pterygium syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA2168720	rs_771417982	2 SubmittersRCV001143344 RCV001143345 RCV003574844
NM_005199.5(CHRNG):c.708C>T (p.Leu236=)	SNV Germline	Chr2:232542985	Conflicting classifications of pathogenicity	Autosomal recessive multiple pterygium syndrome Lethal multiple pterygium syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA431810948	rs_1308873617	2 SubmittersRCV001143348 RCV001143349 RCV003769685
NM_000751.3(CHRND):c.932+9C>T	SNV Germline	Chr2:232531472	Conflicting classifications of pathogenicity	Congenital myasthenic syndrome Lethal multiple pterygium syndrome	Criteria Provided Conflicting Classifications	CA2168197	rs_367837942	2 SubmittersRCV001138072 RCV001138071
NM_005199.5(CHRNG):c.195+14C>T	SNV Germline	Chr2:232540145	Conflicting classifications of pathogenicity	Lethal multiple pterygium syndrome Autosomal recessive multiple pterygium syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA2168527	rs_200640510	2 SubmittersRCV001141402 RCV001143244 RCV003769675
NM_005199.5(CHRNG):c.507-12G>A	SNV Germline	Chr2:232542411	Conflicting classifications of pathogenicity	Lethal multiple pterygium syndrome Autosomal recessive multiple pterygium syndrome Condition: not provided Cholangiocarcinoma	Criteria Provided Conflicting Classifications	CA2168709	rs_184423691	5 SubmittersRCV001141514 RCV001143343 RCV001354957 RCV005913857
NM_000079.4(CHRNA1):c.844G>T (p.Glu282Ter)	SNV Germline	Chr2:174750104	Pathogenic	Lethal multiple pterygium syndrome	Criteria Provided Single Submitter	CA349336791	rs_1208011631	1 SubmittersRCV001229186
NM_000079.4(CHRNA1):c.271G>A (p.Asp91Asn)	SNV Germline	Chr2:174757639	Conflicting classifications of pathogenicity	Lethal multiple pterygium syndrome Myasthenic syndrome, congenital, 1B, fast-channel Lethal multiple pterygium syndrome not specified	Criteria Provided Conflicting Classifications	CA349343761	rs_1684008469	3 SubmittersRCV001231188 RCV004731107 RCV006269341
NM_000751.3(CHRND):c.160G>A (p.Val54Ile)	SNV Germline	Chr2:232526636	Conflicting classifications of pathogenicity	Lethal multiple pterygium syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2167913	rs_369869476	2 SubmittersRCV001228646 RCV002563707
NM_000751.3(CHRND):c.698G>A (p.Arg233His)	SNV Germline	Chr2:232530017	Conflicting classifications of pathogenicity	Lethal multiple pterygium syndrome Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA2168120	rs_146416320	4 SubmittersRCV001236619 RCV004609690 RCV005630897
NM_005199.5(CHRNG):c.994C>T (p.Arg332Trp)	SNV Germline	Chr2:232543658	Conflicting classifications of pathogenicity	Rheumatoid arthritis not specified Autosomal recessive multiple pterygium syndrome Condition: not provided Autosomal recessive multiple pterygium syndrome Lethal multiple pterygium syndrome	Criteria Provided Conflicting Classifications	CA2168883	rs_567899708	6 SubmittersRCV001375908 RCV002298919 RCV003235521 RCV003660879 RCV005360004
NM_000079.4(CHRNA1):c.1184C>T (p.Ala395Val)	SNV Germline	Chr2:174748638	Conflicting classifications of pathogenicity	Inborn genetic diseases Lethal multiple pterygium syndrome	Criteria Provided Conflicting Classifications	CA1974349	rs_768878508	2 SubmittersRCV002561292 RCV001468398
NM_000079.4(CHRNA1):c.254T>C (p.Leu85Pro)	SNV Germline	Chr2:174757656	Likely pathogenic	Lethal multiple pterygium syndrome Congenital myasthenic syndrome 1A	Criteria Provided Single Submitter	CA349343847	rs_2105350715	1 SubmittersRCV001533178 RCV004813177
NM_005199.5(CHRNG):c.56-1G>A	SNV Germline	Chr2:232539991	Pathogenic	Condition: not provided Autosomal recessive multiple pterygium syndrome Lethal multiple pterygium syndrome	Criteria Provided Multiple Submitters No Conflicts	CA351006821	rs_1265493319	3 SubmittersRCV001780505 RCV005014658
NM_000751.3(CHRND):c.248G>A (p.Trp83Ter)	SNV Germline	Chr2:232528266	Pathogenic/Likely pathogenic	Congenital myasthenic syndrome 3B Lethal multiple pterygium syndrome	Criteria Provided Multiple Submitters No Conflicts	CA350997383	rs_2106208285	2 SubmittersRCV002227557 RCV002541179
NM_000751.3(CHRND):c.1006C>T (p.Arg336Ter)	SNV Germline	Chr2:232531615	Conflicting classifications of pathogenicity	Condition: not provided Lethal multiple pterygium syndrome	Criteria Provided Conflicting Classifications	CA2168224	rs_754087173	4 SubmittersRCV001780783 RCV005095129
NM_000079.4(CHRNA1):c.935C>A (p.Thr312Asn)	SNV Germline	Chr2:174750013	Conflicting classifications of pathogenicity	Lethal multiple pterygium syndrome Lethal multiple pterygium syndrome Myasthenic syndrome, congenital, 1B, fast-channel Congenital myasthenic syndrome 1A Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1974423	rs_746404398	3 SubmittersRCV001944867 RCV002478159 RCV003303242
NM_000079.4(CHRNA1):c.249C>A (p.Tyr83Ter)	SNV Germline	Chr2:174757661	Pathogenic	Lethal multiple pterygium syndrome	Criteria Provided Single Submitter	CA349343863	rs_1684009556	1 SubmittersRCV001934247
NM_000751.3(CHRND):c.1252+1G>A	SNV Germline	Chr2:232534136	Pathogenic/Likely pathogenic	Lethal multiple pterygium syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA351005348	rs_1285705072	2 SubmittersRCV001998299 RCV006698440
NM_000751.3(CHRND):c.243+1G>A	SNV Germline	Chr2:232527446	Likely pathogenic	Lethal multiple pterygium syndrome	Criteria Provided Single Submitter	CA2167952	rs_751237539	1 SubmittersRCV002006966
NM_000751.3(CHRND):c.2T>C (p.Met1Thr)	SNV Germline	Chr2:232526217	Pathogenic	Lethal multiple pterygium syndrome	Criteria Provided Single Submitter	CA2167853	rs_750174953	1 SubmittersRCV002012450
NM_000751.3(CHRND):c.70G>A (p.Glu24Lys)	SNV Germline	Chr2:232526546	Conflicting classifications of pathogenicity	Lethal multiple pterygium syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA2167891	rs_144310284	3 SubmittersRCV002085131 RCV004721017
NM_000079.4(CHRNA1):c.676G>A (p.Val226Ile)	SNV Germline	Chr2:174753605	Conflicting classifications of pathogenicity	Lethal multiple pterygium syndrome Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1974494	rs_200102479	3 SubmittersRCV002208032 RCV003146512 RCV003161436
NM_000079.4(CHRNA1):c.1A>G (p.Met1Val)	SNV Germline	Chr2:174764394	Conflicting classifications of pathogenicity	Lethal multiple pterygium syndrome	Criteria Provided Conflicting Classifications	CA1974734	rs_146464862	3 SubmittersRCV002266219
NM_005199.5(CHRNG):c.351-2A>G	SNV Germline	Chr2:232541372	Likely pathogenic	Autosomal recessive multiple pterygium syndrome Condition: not provided Lethal multiple pterygium syndrome	Criteria Provided Multiple Submitters No Conflicts	CA2168639	rs_751234287	3 SubmittersRCV002468823 RCV003775499 RCV004782938
NM_000751.3(CHRND):c.628G>T (p.Glu210Ter)	SNV Germline	Chr2:232529947	Pathogenic	Lethal multiple pterygium syndrome	Criteria Provided Single Submitter	CA351000551	rs_1417363003	1 SubmittersRCV003068350
NM_000751.3(CHRND):c.59G>A (p.Trp20Ter)	SNV Germline	Chr2:232526535	Pathogenic	Lethal multiple pterygium syndrome	Criteria Provided Single Submitter	CA2167890	rs_764374927	1 SubmittersRCV003084861
NM_000751.3(CHRND):c.932+2T>A	SNV Germline	Chr2:232531465	Likely pathogenic	Lethal multiple pterygium syndrome	Criteria Provided Single Submitter	CA2168195	rs_748559696	1 SubmittersRCV002700636
NM_000751.3(CHRND):c.423G>C (p.Trp141Cys)	SNV Germline	Chr2:232528570	Likely pathogenic	Lethal multiple pterygium syndrome	Criteria Provided Single Submitter	CA350998097	rs_2469719176	1 SubmittersRCV003047821
NM_005199.5(CHRNG):c.257G>A (p.Arg86His)	SNV Germline	Chr2:232540618	Conflicting classifications of pathogenicity	Inborn genetic diseases Autosomal recessive multiple pterygium syndrome Autosomal recessive multiple pterygium syndrome Lethal multiple pterygium syndrome	Criteria Provided Conflicting Classifications	CA2168588	rs_550521607	3 SubmittersRCV003178937 RCV004557266 RCV006685949
NM_005199.5(CHRNG):c.794T>G (p.Leu265Arg)	SNV Germline	Chr2:232543071	Likely pathogenic	Lethal multiple pterygium syndrome	Criteria Provided Single Submitter	CA351012421	rs_2469751477	1 SubmittersRCV003236547
NM_000079.4(CHRNA1):c.44-1G>A	SNV Germline	Chr2:174759634	Likely pathogenic	Lethal multiple pterygium syndrome	Criteria Provided Single Submitter	CA349344822	rs_1574011727	1 SubmittersRCV003317980
NM_000079.4(CHRNA1):c.778+2T>A	SNV Germline	Chr2:174753501	Likely pathogenic	Lethal multiple pterygium syndrome	Criteria Provided Single Submitter	CA349338622	rs_1457407106	1 SubmittersRCV003517021
NM_005199.5(CHRNG):c.805+1G>A	SNV Germline	Chr2:232543083	Likely pathogenic	Condition: not provided Autosomal recessive multiple pterygium syndrome Lethal multiple pterygium syndrome	Criteria Provided Multiple Submitters No Conflicts	CA2168792	rs_367938116	3 SubmittersRCV003854312 RCV005030327
NM_005199.5(CHRNG):c.2T>C (p.Met1Thr)	SNV Germline	Chr2:232539749	Likely pathogenic	Autosomal recessive multiple pterygium syndrome Lethal multiple pterygium syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005020862
NM_005199.5(CHRNG):c.166A>T (p.Lys56Ter)	SNV Germline	Chr2:232540102	Likely pathogenic	Autosomal recessive multiple pterygium syndrome Lethal multiple pterygium syndrome	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV005024344
NM_005199.5(CHRNG):c.246G>A (p.Trp82Ter)	SNV Germline	Chr2:232540607	Likely pathogenic	Autosomal recessive multiple pterygium syndrome Lethal multiple pterygium syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005024345
NM_005199.5(CHRNG):c.249C>A (p.Cys83Ter)	SNV Germline	Chr2:232540610	Likely pathogenic	Autosomal recessive multiple pterygium syndrome Lethal multiple pterygium syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005020864
NM_005199.5(CHRNG):c.350+2T>C	SNV Germline	Chr2:232540713	Pathogenic/Likely pathogenic	Autosomal recessive multiple pterygium syndrome Lethal multiple pterygium syndrome Autosomal recessive multiple pterygium syndrome	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV005020865 RCV005867235
NM_005199.5(CHRNG):c.482G>A (p.Trp161Ter)	SNV Germline	Chr2:232541505	Pathogenic	Autosomal recessive multiple pterygium syndrome Lethal multiple pterygium syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005024346
NM_005199.5(CHRNG):c.1035+2C>A	SNV Germline	Chr2:232543701	Likely pathogenic	Autosomal recessive multiple pterygium syndrome Lethal multiple pterygium syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005024348
NM_005199.5(CHRNG):c.1035+2C>G	SNV Germline	Chr2:232543701	Likely pathogenic	Autosomal recessive multiple pterygium syndrome Lethal multiple pterygium syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005020868
NM_005199.5(CHRNG):c.1380+1G>A	SNV Germline	Chr2:232544903	Pathogenic/Likely pathogenic	Autosomal recessive multiple pterygium syndrome Lethal multiple pterygium syndrome Lethal multiple pterygium syndrome Autosomal recessive multiple pterygium syndrome	Criteria Provided Multiple Submitters No Conflicts			3 SubmittersRCV005024350 RCV006699516 RCV006646216
NM_000079.4(CHRNA1):c.379A>T (p.Lys127Ter)	SNV Germline	Chr2:174754380	Pathogenic	Lethal multiple pterygium syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005114944
NM_000751.3(CHRND):c.510-1G>T	SNV Germline	Chr2:232528861	Likely pathogenic	Lethal multiple pterygium syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005131183
NM_000079.4(CHRNA1):c.189+1G>A	SNV Germline	Chr2:174759487	Likely pathogenic	Lethal multiple pterygium syndrome Melanoma	Criteria Provided Single Submitter			2 SubmittersRCV005152194 RCV005937890
NM_000751.3(CHRND):c.509+1G>A	SNV Germline	Chr2:232528657	Likely pathogenic	Lethal multiple pterygium syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005184350
NM_000079.4(CHRNA1):c.613A>T (p.Lys205Ter)	SNV Germline	Chr2:174753668	Pathogenic	Lethal multiple pterygium syndrome	Criteria Provided Single Submitter			1 SubmittersRCV006487035
NM_000079.4(CHRNA1):c.639C>A (p.Cys213Ter)	SNV Germline	Chr2:174753642	Pathogenic	Lethal multiple pterygium syndrome	Criteria Provided Single Submitter			1 SubmittersRCV006501415
NM_000079.4(CHRNA1):c.391C>T (p.Gln131Ter)	SNV Germline	Chr2:174754368	Pathogenic/Likely pathogenic	Lethal multiple pterygium syndrome	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV006529893
NM_000079.4(CHRNA1):c.587G>A (p.Trp196Ter)	SNV Germline	Chr2:174753694	Pathogenic	Lethal multiple pterygium syndrome	Criteria Provided Single Submitter			1 SubmittersRCV006583492
NM_000079.4(CHRNA1):c.1171G>T (p.Glu391Ter)	SNV Germline	Chr2:174748651	Pathogenic	Lethal multiple pterygium syndrome	Criteria Provided Single Submitter			1 SubmittersRCV006618789
NM_005199.5(CHRNG):c.604+1G>C	SNV Germline	Chr2:232542521	Likely pathogenic	Lethal multiple pterygium syndrome	Criteria Provided Single Submitter			1 SubmittersRCV006693576

NM_005199.5(CHRNG):c.715C>T (p.Arg239Cys)

SNV
Germline

Chr2:232542992

Pathogenic

Lethal multiple pterygium syndrome
Autosomal recessive multiple pterygium syndrome
Condition: not provided
Fetal anomalies with a likely genetic cause

Criteria Provided
Multiple Submitters
No Conflicts

CA128049

rs_121912670

8 SubmittersRCV000020004 RCV000020003 RCV003556054 RCV006697546

NM_005199.5(CHRNG):c.1408C>T (p.Arg470Ter)

SNV
Germline

Chr2:232545570

Likely pathogenic

Autosomal recessive multiple pterygium syndrome
Lethal multiple pterygium syndrome
Autosomal recessive multiple pterygium syndrome

Criteria Provided
Single Submitter

CA128050

rs_121912671

2 SubmittersRCV000020006 RCV005025075

NM_005199.5(CHRNG):c.320T>G (p.Val107Gly)

SNV
Germline

Chr2:232540681

Likely pathogenic

Autosomal recessive multiple pterygium syndrome
Lethal multiple pterygium syndrome

Criteria Provided
Single Submitter

CA128052

rs_267606726

2 SubmittersRCV000020007 RCV000020008

NM_005199.5(CHRNG):c.136C>T (p.Arg46Ter)

SNV
Germline

Chr2:232540072

Pathogenic

Autosomal recessive multiple pterygium syndrome
Condition: not provided
Lethal multiple pterygium syndrome
Autosomal recessive multiple pterygium syndrome
Lethal multiple pterygium syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA128053

rs_121912672

8 SubmittersRCV000020009 RCV001781290 RCV001822997 RCV005406756

NM_000751.3(CHRND):c.866C>T (p.Ser289Phe)

SNV
Germline

Chr2:232531397

Likely pathogenic

Congenital myasthenic syndrome 3A
Lethal multiple pterygium syndrome

Criteria Provided
Single Submitter

CA128062

rs_121909502

2 SubmittersRCV000020031 RCV001218475

NM_000751.3(CHRND):c.812C>A (p.Pro271Gln)

SNV
Germline

Chr2:232530131

Likely pathogenic

Congenital myasthenic syndrome 3B
Congenital myasthenic syndrome 3B
Congenital myasthenic syndrome 3C
Lethal multiple pterygium syndrome

Criteria Provided
Single Submitter

CA128063

rs_121909503

2 SubmittersRCV000020032 RCV006684514

NM_000751.3(CHRND):c.234G>A (p.Trp78Ter)

SNV
Germline

Chr2:232527436

Pathogenic

Lethal multiple pterygium syndrome
Condition: not provided
Congenital myasthenic syndrome 3B
Congenital myasthenic syndrome 3B
Congenital myasthenic syndrome 3C
Congenital myasthenic syndrome 3A
Congenital myasthenic syndrome 3B
Congenital myasthenic syndrome 3C
Lethal multiple pterygium syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA128067

rs_121909505

6 SubmittersRCV000020036 RCV001093255 RCV002288514 RCV005409603 RCV006249355

NM_000751.3(CHRND):c.283T>C (p.Phe95Leu)

SNV
Germline

Chr2:232528301

Pathogenic

Lethal multiple pterygium syndrome

No Assertion Criteria Provided

CA128069

rs_121909506

1 SubmittersRCV000020037

NM_000079.4(CHRNA1):c.517G>A (p.Gly173Ser)

SNV
Germline

Chr2:174754242

Pathogenic/Likely pathogenic

Congenital myasthenic syndrome 1A
Lethal multiple pterygium syndrome
Condition: not provided
Congenital myasthenic syndrome 1A
Lethal multiple pterygium syndrome
Myasthenic syndrome, congenital, 1B, fast-channel
Congenital myasthenic syndrome 1A
Myasthenic syndrome, congenital, 1B, fast-channel
Congenital myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA258183

rs_137852801

7 SubmittersRCV000020047 RCV000556947 RCV001564390 RCV005409604 RCV005409605 RCV004586016

NM_000079.4(CHRNA1):c.805G>T (p.Val269Phe)

SNV
Germline

Chr2:174750143

Conflicting classifications of pathogenicity

Congenital myasthenic syndrome 1A
Inborn genetic diseases
Lethal multiple pterygium syndrome
Myasthenic syndrome, congenital, 1B, fast-channel

Criteria Provided
Conflicting Classifications

CA258187

rs_137852803

4 SubmittersRCV000020049 RCV000623150 RCV001851960 RCV005409606

NM_000079.4(CHRNA1):c.757T>G (p.Phe253Val)

SNV
Germline

Chr2:174753524

Likely pathogenic

Myasthenic syndrome, congenital, 1B, fast-channel
Lethal multiple pterygium syndrome

Criteria Provided
Single Submitter

CA128078

rs_137852805

2 SubmittersRCV000020051 RCV003517130

NM_000079.4(CHRNA1):c.997C>T (p.Arg333Trp)

SNV
Germline

Chr2:174749951

Pathogenic/Likely pathogenic

Myasthenic syndrome, congenital, 1B, fast-channel
Lethal multiple pterygium syndrome
Condition: not provided
Slow-Channel Congenital Myasthenia Syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA1974412

rs_374391312

5 SubmittersRCV000022418 RCV000803477 RCV002255118 RCV006688361

NM_000079.4(CHRNA1):c.737C>T (p.Ser246Phe)

SNV
Germline

Chr2:174753544

Conflicting classifications of pathogenicity

Slow-Channel Congenital Myasthenia Syndrome
Lethal multiple pterygium syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA269930

rs_483353046

4 SubmittersRCV000122733 RCV001047612 RCV002291564

NM_000751.3(CHRND):c.1204G>A (p.Glu402Lys)

SNV
Germline

Chr2:232534087

Conflicting classifications of pathogenicity

Congenital myasthenic syndrome 3C
Lethal multiple pterygium syndrome
Congenital myasthenic syndrome 3B
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2168289

rs_145955590

5 SubmittersRCV000170317 RCV001365568 RCV002227450 RCV002510806

NM_000751.3(CHRND):c.44C>T (p.Ala15Val)

SNV
Germline

Chr2:232526259

Conflicting classifications of pathogenicity

not specified
Lethal multiple pterygium syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA238633

rs_142531974

4 SubmittersRCV000173168 RCV000557059 RCV000724009

NM_000751.3(CHRND):c.1105C>T (p.Pro369Ser)

SNV
Germline

Chr2:232533988

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Lethal multiple pterygium syndrome
Congenital myasthenic syndrome
Congenital myasthenic syndrome 3A

Criteria Provided
Conflicting Classifications

CA200681

rs_2229194

10 SubmittersRCV000173709 RCV000224550 RCV001079470 RCV001138073 RCV001198096

NM_000751.3(CHRND):c.1400G>A (p.Arg467His)

SNV
Germline

Chr2:232535158

Conflicting classifications of pathogenicity

not specified
Lethal multiple pterygium syndrome
Congenital myasthenic syndrome
Condition: not provided
CHRND-related disorder

Criteria Provided
Conflicting Classifications

CA200909

rs_148939701

9 SubmittersRCV000174260 RCV000530315 RCV001142919 RCV001657944 RCV003891709

NM_000079.4(CHRNA1):c.655C>T (p.Leu219=)

SNV
Germline

Chr2:174753626

Conflicting classifications of pathogenicity

not specified
Congenital myasthenic syndrome
Condition: not provided
Lethal multiple pterygium syndrome

Criteria Provided
Conflicting Classifications

CA246525

rs_150638770

7 SubmittersRCV000246828 RCV000277508 RCV000724411 RCV001086080

NM_000079.4(CHRNA1):c.948C>A (p.Ile316=)

SNV
Germline

Chr2:174750000

Conflicting classifications of pathogenicity

Condition: not provided
Lethal multiple pterygium syndrome
CHRNA1-related disorder

Criteria Provided
Conflicting Classifications

CA247022

rs_141733086

3 SubmittersRCV000179711 RCV001087107 RCV003955088

NM_005199.5(CHRNG):c.775G>A (p.Ala259Thr)

SNV
Germline

Chr2:232543052

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive multiple pterygium syndrome
Lethal multiple pterygium syndrome

Criteria Provided
Conflicting Classifications

CA247217

rs_138125827

3 SubmittersRCV000179901 RCV000309135 RCV001094614

NM_000751.3(CHRND):c.933-9T>C

SNV
Germline

Chr2:232531533

Conflicting classifications of pathogenicity

Condition: not provided
Lethal multiple pterygium syndrome

Criteria Provided
Conflicting Classifications

CA248016

rs_199592458

2 SubmittersRCV000180528 RCV001078950

NM_005199.5(CHRNG):c.428C>G (p.Pro143Arg)

SNV
Germline

Chr2:232541451

Pathogenic

Autosomal recessive multiple pterygium syndrome
Lethal multiple pterygium syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA210351

rs_765746795

4 SubmittersRCV000201797 RCV001775100 RCV003556250

NM_005199.5(CHRNG):c.1115C>T (p.Ser372Phe)

SNV
Germline

Chr2:232544446

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive multiple pterygium syndrome
Lethal multiple pterygium syndrome
Lethal multiple pterygium syndrome
Autosomal recessive multiple pterygium syndrome
CHRNG-related disorder

Criteria Provided
Conflicting Classifications

CA2168943

rs_145433186

9 SubmittersRCV000224861 RCV000509333 RCV001141632 RCV001141631 RCV004541362

NM_000751.3(CHRND):c.198+14C>T

SNV
Germline

Chr2:232526688

Conflicting classifications of pathogenicity

not specified
Lethal multiple pterygium syndrome
Congenital myasthenic syndrome

Criteria Provided
Conflicting Classifications

CA2167926

rs_199538903

3 SubmittersRCV000246502 RCV001137972 RCV001137971

NM_000751.3(CHRND):c.817G>A (p.Asp273Asn)

SNV
Germline

Chr2:232530136

Conflicting classifications of pathogenicity

Lethal multiple pterygium syndrome
Condition: not provided
CHRND-related disorder

Criteria Provided
Conflicting Classifications

CA2168139

rs_202209156

5 SubmittersRCV000551038 RCV001711662 RCV003891859

NM_005199.5(CHRNG):c.471C>T (p.Phe157=)

SNV
Germline

Chr2:232541494

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Lethal multiple pterygium syndrome

Criteria Provided
Conflicting Classifications

CA2168674

rs_143272752

4 SubmittersRCV000254481 RCV000874618 RCV001094714

NM_000751.3(CHRND):c.919C>T (p.Pro307Ser)

SNV
Germline

Chr2:232531450

Conflicting classifications of pathogenicity

Congenital myasthenic syndrome
Condition: not provided
Lethal multiple pterygium syndrome
Congenital myasthenic syndrome 3A
Congenital myasthenic syndrome 3B
Congenital myasthenic syndrome 3C
Lethal multiple pterygium syndrome
not specified

Criteria Provided
Conflicting Classifications

CA2168190

rs_142063328

11 SubmittersRCV000289236 RCV000724895 RCV000764381 RCV001081973 RCV006439906

NM_000751.3(CHRND):c.727C>T (p.Arg243Cys)

SNV
Germline

Chr2:232530046

Conflicting classifications of pathogenicity

Condition: not provided
Congenital myasthenic syndrome
Lethal multiple pterygium syndrome
Congenital myasthenic syndrome 3C
Congenital myasthenic syndrome 3A
Congenital myasthenic syndrome 3B
Lethal multiple pterygium syndrome
not specified
Congenital myasthenic syndrome 3A

Criteria Provided
Conflicting Classifications

CA2168125

rs_201733876

8 SubmittersRCV000285578 RCV000295199 RCV000526402 RCV000764380 RCV001731557 RCV002227466

NM_005199.5(CHRNG):c.663G>A (p.Ala221=)

SNV
Germline

Chr2:232542940

Conflicting classifications of pathogenicity

Condition: not provided
Lethal multiple pterygium syndrome
Autosomal recessive multiple pterygium syndrome

Criteria Provided
Conflicting Classifications

CA2168765

rs_150556220

4 SubmittersRCV000297688 RCV001143346 RCV001143347

NM_000751.3(CHRND):c.1125G>A (p.Val375=)

SNV
Germline

Chr2:232534008

Conflicting classifications of pathogenicity

Condition: not provided
Lethal multiple pterygium syndrome

Criteria Provided
Conflicting Classifications

CA2168270

rs_143246852

3 SubmittersRCV000278066 RCV000642122

NM_000751.3(CHRND):c.1530C>T (p.Asn510=)

SNV
Germline

Chr2:232535288

Conflicting classifications of pathogenicity

Condition: not provided
Congenital myasthenic syndrome
Lethal multiple pterygium syndrome

Criteria Provided
Conflicting Classifications

CA2168375

rs_114463490

3 SubmittersRCV000285515 RCV000293023 RCV001084935

NM_005199.5(CHRNG):c.1381G>A (p.Gly461Arg)

SNV
Germline

Chr2:232545543

Conflicting classifications of pathogenicity

Autosomal recessive multiple pterygium syndrome
not specified
Lethal multiple pterygium syndrome
Condition: not provided
CHRNG-associated hypo-akinesia disorder of prenatal onset

Criteria Provided
Conflicting Classifications

CA2169054

rs_143800157

5 SubmittersRCV000301272 RCV000382886 RCV001094623 RCV001689958 RCV005355615

NM_000079.4(CHRNA1):c.1139T>C (p.Met380Thr)

SNV
Germline

Chr2:174748683

Conflicting classifications of pathogenicity

Condition: not provided
Lethal multiple pterygium syndrome

Criteria Provided
Conflicting Classifications

CA1974360

rs_149292107

3 SubmittersRCV000362834 RCV001087747

NM_000079.4(CHRNA1):c.1293C>T (p.Leu431=)

SNV
Germline

Chr2:174748205

Conflicting classifications of pathogenicity

Congenital myasthenic syndrome
Lethal multiple pterygium syndrome
Condition: not provided
CHRNA1-related disorder

Criteria Provided
Conflicting Classifications

CA1974307

rs_146899588

4 SubmittersRCV000358139 RCV000875271 RCV003884493 RCV003957712

NM_000079.4(CHRNA1):c.*422G>T

SNV
Germline

Chr2:174747702

Conflicting classifications of pathogenicity

Lethal multiple pterygium syndrome
Congenital myasthenic syndrome

Criteria Provided
Conflicting Classifications

CA10611916

rs_184095877

1 SubmittersRCV000267328 RCV000320358

NM_000079.4(CHRNA1):c.*411G>A

SNV
Germline

Chr2:174747713

Conflicting classifications of pathogenicity

Lethal multiple pterygium syndrome
Congenital myasthenic syndrome

Criteria Provided
Conflicting Classifications

CA10611918

rs_560280191

1 SubmittersRCV000319128 RCV000371665

NM_000079.4(CHRNA1):c.1002+9G>A

SNV
Germline

Chr2:174749937

Conflicting classifications of pathogenicity

Congenital myasthenic syndrome
Lethal multiple pterygium syndrome
CHRNA1-related disorder

Criteria Provided
Conflicting Classifications

CA1974407

rs_368959759

3 SubmittersRCV000275802 RCV000642126 RCV003972404

NM_000079.4(CHRNA1):c.705C>A (p.Ile235=)

SNV
Germline

Chr2:174753576

Conflicting classifications of pathogenicity

Congenital myasthenic syndrome
Lethal multiple pterygium syndrome
CHRNA1-related disorder

Criteria Provided
Conflicting Classifications

CA1974490

rs_143252724

3 SubmittersRCV000312777 RCV000367342 RCV004751482

NM_005199.5(CHRNG):c.196-9C>T

SNV
Germline

Chr2:232540372

Conflicting classifications of pathogenicity

Autosomal recessive multiple pterygium syndrome
Lethal multiple pterygium syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2168549

rs_182635953

2 SubmittersRCV000305721 RCV001094747 RCV003765948

NM_005199.5(CHRNG):c.806-13C>T

SNV
Germline

Chr2:232543262

Conflicting classifications of pathogenicity

Lethal multiple pterygium syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2168814

rs_375760045

2 SubmittersRCV001094615 RCV003765951

NM_005199.5(CHRNG):c.928A>T (p.Thr310Ser)

SNV
Germline

Chr2:232543592

Conflicting classifications of pathogenicity

Autosomal recessive multiple pterygium syndrome
Lethal multiple pterygium syndrome
Condition: not provided
CHRNG-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2168866

rs_145830034

5 SubmittersRCV000275111 RCV001094663 RCV003327396 RCV004530364 RCV002523122

NM_005199.5(CHRNG):c.1378A>G (p.Asn460Asp)

SNV
Germline

Chr2:232544900

Conflicting classifications of pathogenicity

Lethal multiple pterygium syndrome
Condition: not provided
CHRNG-associated hypo-akinesia disorder of prenatal onset

Criteria Provided
Conflicting Classifications

CA2169032

rs_138232636

3 SubmittersRCV001094622 RCV003765954 RCV005365252

NM_000079.4(CHRNA1):c.1294G>A (p.Gly432Arg)

SNV
Germline

Chr2:174748204

Conflicting classifications of pathogenicity

Congenital myasthenic syndrome
Lethal multiple pterygium syndrome
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1974306

rs_151081792

4 SubmittersRCV000303322 RCV000824373 RCV003144218 RCV002523096

NM_000079.4(CHRNA1):c.813G>A (p.Leu271=)

SNV
Germline

Chr2:174750135

Conflicting classifications of pathogenicity

Congenital myasthenic syndrome
Lethal multiple pterygium syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1974438

rs_374093236

3 SubmittersRCV000377470 RCV000874309 RCV003884494

NM_000079.4(CHRNA1):c.319C>T (p.Arg107Cys)

SNV
Germline

Chr2:174757591

Conflicting classifications of pathogenicity

Congenital myasthenic syndrome
Lethal multiple pterygium syndrome
Juvenile myoclonic epilepsy
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1974592

rs_140268343

5 SubmittersRCV000380558 RCV000543342 RCV000678786 RCV003144220 RCV002521336

NM_000079.4(CHRNA1):c.224G>A (p.Arg75His)

SNV
Germline

Chr2:174759341

Conflicting classifications of pathogenicity

Congenital myasthenic syndrome
Lethal multiple pterygium syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1974662

rs_147488907

7 SubmittersRCV000281666 RCV000530873 RCV001090465

NM_000079.4(CHRNA1):c.111C>T (p.Ser37=)

SNV
Germline

Chr2:174759566

Conflicting classifications of pathogenicity

Lethal multiple pterygium syndrome
Congenital myasthenic syndrome

Criteria Provided
Conflicting Classifications

CA10612846

rs_886055151

2 SubmittersRCV000351967 RCV000392287

NM_000079.4(CHRNA1):c.-37A>G

SNV
Germline

Chr2:174764431

Conflicting classifications of pathogenicity

Congenital myasthenic syndrome
Lethal multiple pterygium syndrome
CHRNA1-related disorder

Criteria Provided
Conflicting Classifications

CA1974743

rs_182459320

2 SubmittersRCV000308236 RCV000362888 RCV003940335

NM_000079.4(CHRNA1):c.1332C>T (p.Ala444=)

SNV
Germline

Chr2:174748166

Conflicting classifications of pathogenicity

Congenital myasthenic syndrome
Lethal multiple pterygium syndrome

Criteria Provided
Conflicting Classifications

CA1974300

rs_771587252

2 SubmittersRCV000347779 RCV000642120

NM_000079.4(CHRNA1):c.1248G>A (p.Ala416=)

SNV
Germline

Chr2:174748250

Conflicting classifications of pathogenicity

Congenital myasthenic syndrome
Lethal multiple pterygium syndrome

Criteria Provided
Conflicting Classifications

CA1974318

rs_17838545

2 SubmittersRCV000304338 RCV000871752

NM_000751.3(CHRND):c.1252+10C>T

SNV
Germline

Chr2:232534145

Conflicting classifications of pathogenicity

Congenital myasthenic syndrome
Lethal multiple pterygium syndrome

Criteria Provided
Conflicting Classifications

CA2168299

rs_373581541

2 SubmittersRCV000305998 RCV000353833

NM_005199.5(CHRNG):c.357C>T (p.Asp119=)

SNV
Germline

Chr2:232541380

Conflicting classifications of pathogenicity

Autosomal recessive multiple pterygium syndrome
Lethal multiple pterygium syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2168642

rs_749995118

2 SubmittersRCV000265832 RCV001094610 RCV003765949

NM_005199.5(CHRNG):c.1074C>T (p.His358=)

SNV
Germline

Chr2:232544405

Conflicting classifications of pathogenicity

Autosomal recessive multiple pterygium syndrome
Condition: not provided
Lethal multiple pterygium syndrome

Criteria Provided
Conflicting Classifications

CA2168928

rs_761581720

2 SubmittersRCV000284054 RCV000922574 RCV001094666

NM_000751.3(CHRND):c.525G>A (p.Thr175=)

SNV
Germline

Chr2:232528877

Conflicting classifications of pathogenicity

Congenital myasthenic syndrome
Lethal multiple pterygium syndrome

Criteria Provided
Conflicting Classifications

CA2168060

rs_56203086

2 SubmittersRCV000374066 RCV000887600

NM_000751.3(CHRND):c.1253-9C>T

SNV
Germline

Chr2:232534215

Conflicting classifications of pathogenicity

Congenital myasthenic syndrome
Lethal multiple pterygium syndrome

Criteria Provided
Conflicting Classifications

CA2168313

rs_2853458

2 SubmittersRCV000272177 RCV000875263

NM_000751.3(CHRND):c.1359C>T (p.Asn453=)

SNV
Germline

Chr2:232534330

Conflicting classifications of pathogenicity

Congenital myasthenic syndrome
Lethal multiple pterygium syndrome

Criteria Provided
Conflicting Classifications

CA2168327

rs_776972228

2 SubmittersRCV000327287 RCV000381775

NM_005199.5(CHRNG):c.129C>T (p.Pro43=)

SNV
Germline

Chr2:232540065

Conflicting classifications of pathogenicity

Autosomal recessive multiple pterygium syndrome
Condition: not provided
Lethal multiple pterygium syndrome

Criteria Provided
Conflicting Classifications

CA2168510

rs_151276788

2 SubmittersRCV000300315 RCV000876796 RCV001094656

NM_005199.5(CHRNG):c.1230G>A (p.Ala410=)

SNV
Germline

Chr2:232544561

Conflicting classifications of pathogenicity

Lethal multiple pterygium syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2168976

rs_144948513

2 SubmittersRCV001094620 RCV003688844

NM_005199.5(CHRNG):c.1259C>T (p.Pro420Leu)

SNV
Germline

Chr2:232544781

Conflicting classifications of pathogenicity

Lethal multiple pterygium syndrome
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2169009

rs_146674765

3 SubmittersRCV001094621 RCV003765953 RCV005318378

NM_000751.3(CHRND):c.411C>T (p.Gly137=)

SNV
Germline

Chr2:232528558

Conflicting classifications of pathogenicity

Congenital myasthenic syndrome
Lethal multiple pterygium syndrome
CHRND-related disorder

Criteria Provided
Conflicting Classifications

CA2168022

rs_373578965

3 SubmittersRCV000265153 RCV000536996 RCV003969965

NM_000751.3(CHRND):c.651G>A (p.Pro217=)

SNV
Germline

Chr2:232529970

Conflicting classifications of pathogenicity

Congenital myasthenic syndrome
Lethal multiple pterygium syndrome

Criteria Provided
Conflicting Classifications

CA2168111

rs_146205427

2 SubmittersRCV000329975 RCV000871116

NM_000751.3(CHRND):c.893G>A (p.Arg298His)

SNV
Germline

Chr2:232531424

Conflicting classifications of pathogenicity

Congenital myasthenic syndrome
Lethal multiple pterygium syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2168184

rs_139722128

3 SubmittersRCV000352373 RCV000808385 RCV003144223

NM_000751.3(CHRND):c.1253-10T>G

SNV
Germline

Chr2:232534214

Conflicting classifications of pathogenicity

Congenital myasthenic syndrome
Lethal multiple pterygium syndrome

Criteria Provided
Conflicting Classifications

CA2168312

rs_199508773

2 SubmittersRCV000266455 RCV000871417

NM_005199.5(CHRNG):c.57G>C (p.Gly19=)

SNV
Germline

Chr2:232539993

Conflicting classifications of pathogenicity

Lethal multiple pterygium syndrome
Condition: not provided
CHRNG-related disorder

Criteria Provided
Conflicting Classifications

CA2168489

rs_753421728

3 SubmittersRCV001094655 RCV003698772 RCV004735485

NM_005199.5(CHRNG):c.367G>A (p.Glu123Lys)

SNV
Germline

Chr2:232541390

Conflicting classifications of pathogenicity

Lethal multiple pterygium syndrome
Condition: not provided
CHRNG-associated hypo-akinesia disorder of prenatal onset

Criteria Provided
Conflicting Classifications

CA2168646

rs_199937736

3 SubmittersRCV001094611 RCV003765950 RCV005355657

NM_005199.5(CHRNG):c.474C>T (p.Pro158=)

SNV
Germline

Chr2:232541497

Conflicting classifications of pathogenicity

Lethal multiple pterygium syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10614839

rs_145907618

2 SubmittersRCV001094715 RCV003718210

NM_000751.3(CHRND):c.946G>A (p.Gly316Ser)

SNV
Germline

Chr2:232531555

Conflicting classifications of pathogenicity

not specified
Lethal multiple pterygium syndrome
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2168214

rs_139190636

5 SubmittersRCV000413500 RCV000532746 RCV003144251 RCV004022175

NM_005199.5(CHRNG):c.125G>A (p.Arg42Gln)

SNV
Germline

Chr2:232540061

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive multiple pterygium syndrome
not specified
Lethal multiple pterygium syndrome
CHRNG-related disorder

Criteria Provided
Conflicting Classifications

CA2168508

rs_148468628

10 SubmittersRCV000420882 RCV001138818 RCV001354901 RCV001138817 RCV004544730

NM_000751.3(CHRND):c.1048-7G>T

SNV
Germline

Chr2:232533924

Conflicting classifications of pathogenicity

not specified
Lethal multiple pterygium syndrome

Criteria Provided
Conflicting Classifications

CA2168255

rs_369026633

3 SubmittersRCV000435091 RCV001446555

NM_000751.3(CHRND):c.414C>T (p.Phe138=)

SNV
Germline

Chr2:232528561

Conflicting classifications of pathogenicity

Lethal multiple pterygium syndrome
Congenital myasthenic syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA2168023

rs_150208750

5 SubmittersRCV000549495 RCV001140968 RCV001704263 RCV006447172

NM_005199.5(CHRNG):c.256C>T (p.Arg86Cys)

SNV
Germline

Chr2:232540617

Pathogenic/Likely pathogenic

Peripheral neuropathy
Condition: not provided
Autosomal recessive multiple pterygium syndrome
Lethal multiple pterygium syndrome
Lethal multiple pterygium syndrome
Autosomal recessive multiple pterygium syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA2168586

rs_777219451

11 SubmittersRCV000449634 RCV000762330 RCV001007785 RCV003479120 RCV005027495

NM_000079.4(CHRNA1):c.235-323G>A

SNV
Germline

Chr2:174757998

Conflicting classifications of pathogenicity

Condition: not provided
Lethal multiple pterygium syndrome
Myasthenic syndrome, congenital, 1B, fast-channel
CHRNA1-related disorder

Criteria Provided
Conflicting Classifications

CA1974638

rs_750955953

5 SubmittersRCV000478345 RCV004791492 RCV004751560

NM_000751.3(CHRND):c.127C>T (p.Arg43Trp)

SNV
Germline

Chr2:232526603

Pathogenic/Likely pathogenic

Condition: not provided
Lethal multiple pterygium syndrome
Congenital myasthenic syndrome 3A

Criteria Provided
Multiple Submitters
No Conflicts

CA2167903

rs_55868108

4 SubmittersRCV000485087 RCV000805114 RCV001332575

NM_000751.3(CHRND):c.933-2A>G

SNV
Germline

Chr2:232531540

Likely pathogenic

Condition: not provided
Lethal multiple pterygium syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16617496

rs_1064795719

2 SubmittersRCV000482356 RCV005090961

NM_005199.5(CHRNG):c.130G>A (p.Ala44Thr)

SNV
Germline

Chr2:232540066

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive multiple pterygium syndrome
Lethal multiple pterygium syndrome

Criteria Provided
Conflicting Classifications

CA2168512

rs_186589083

3 SubmittersRCV000481365 RCV001141397 RCV001141396

NM_000079.4(CHRNA1):c.778G>T (p.Gly260Trp)

SNV
Germline

Chr2:174753503

Conflicting classifications of pathogenicity

Condition: not provided
Lethal multiple pterygium syndrome
Congenital myasthenic syndrome 1A

Criteria Provided
Conflicting Classifications

CA349338630

rs_1131691893

3 SubmittersRCV000494647 RCV005091049 RCV005355995

NM_000079.4(CHRNA1):c.175C>T (p.Gln59Ter)

SNV
Germline

Chr2:174759502

Pathogenic

Condition: not provided
Lethal multiple pterygium syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA1974690

rs_750329103

2 SubmittersRCV000494143 RCV003114619

NM_000079.4(CHRNA1):c.1321G>A (p.Gly441Arg)

SNV
Germline

Chr2:174748177

Pathogenic/Likely pathogenic

Condition: not provided
Lethal multiple pterygium syndrome
Autism
Seizure
Centronuclear myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA1974303

rs_768407867

6 SubmittersRCV000522179 RCV000542688 RCV000679850 RCV004586756

NM_000079.4(CHRNA1):c.912C>T (p.Phe304=)

SNV
Germline

Chr2:174750036

Conflicting classifications of pathogenicity

Lethal multiple pterygium syndrome
Congenital myasthenic syndrome

Criteria Provided
Conflicting Classifications

CA1974426

rs_373005571

2 SubmittersRCV000551830 RCV001136151

NM_000079.4(CHRNA1):c.711C>A (p.Asn237Lys)

SNV
Germline

Chr2:174753570

Pathogenic

Lethal multiple pterygium syndrome

Criteria Provided
Single Submitter

CA349339147

rs_137852798

1 SubmittersRCV000534544

NM_000751.3(CHRND):c.45G>A (p.Ala15=)

SNV
Germline

Chr2:232526260

Conflicting classifications of pathogenicity

Lethal multiple pterygium syndrome
Congenital myasthenic syndrome

Criteria Provided
Conflicting Classifications

CA2167862

rs_138609765

2 SubmittersRCV000537628 RCV001142713

NM_000751.3(CHRND):c.1367A>G (p.Asn456Ser)

SNV
Germline

Chr2:232534338

Conflicting classifications of pathogenicity

Lethal multiple pterygium syndrome
Condition: not provided
Congenital myasthenic syndrome

Criteria Provided
Conflicting Classifications

CA2168330

rs_144433265

4 SubmittersRCV000542114 RCV000762329 RCV001141061

NM_000751.3(CHRND):c.728G>A (p.Arg243His)

SNV
Germline

Chr2:232530047

Conflicting classifications of pathogenicity

Lethal multiple pterygium syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2168126

rs_148869069

3 SubmittersRCV000538556 RCV001357055

NM_005199.5(CHRNG):c.1210C>T (p.Gln404Ter)

SNV
Germline

Chr2:232544541

Pathogenic

Lethal multiple pterygium syndrome

Criteria Provided
Single Submitter

CA351016040

rs_1553578312

1 SubmittersRCV000576904

NM_005199.5(CHRNG):c.330G>A (p.Pro110=)

SNV
Germline

Chr2:232540691

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive multiple pterygium syndrome
Lethal multiple pterygium syndrome

Criteria Provided
Conflicting Classifications

CA2168609

rs_149931943

3 SubmittersRCV000596166 RCV001136677 RCV001136678

NM_000751.3(CHRND):c.1446G>A (p.Val482=)

SNV
Germline

Chr2:232535204

Conflicting classifications of pathogenicity

Condition: not provided
Lethal multiple pterygium syndrome

Criteria Provided
Conflicting Classifications

CA431809115

rs_1352698710

2 SubmittersRCV000592416 RCV005091564

NM_000751.3(CHRND):c.769T>C (p.Cys257Arg)

SNV
Germline

Chr2:232530088

Pathogenic/Likely pathogenic

Lethal multiple pterygium syndrome
CHRND-related disorder
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA66952998

rs_776218605

3 SubmittersRCV000642109 RCV005407835 RCV005632546

NM_000751.3(CHRND):c.1127G>A (p.Arg376Gln)

SNV
Germline

Chr2:232534010

Conflicting classifications of pathogenicity

Lethal multiple pterygium syndrome
Condition: not provided
Congenital myasthenic syndrome

Criteria Provided
Conflicting Classifications

CA2168272

rs_749866545

4 SubmittersRCV000642118 RCV000731206 RCV001138498

NM_000751.3(CHRND):c.1455A>G (p.Thr485=)

SNV
Germline

Chr2:232535213

Conflicting classifications of pathogenicity

Lethal multiple pterygium syndrome
Congenital myasthenic syndrome

Criteria Provided
Conflicting Classifications

CA2168364

rs_756537437

2 SubmittersRCV000642129 RCV001142920

NM_005199.5(CHRNG):c.202C>T (p.Arg68Ter)

SNV
Germline

Chr2:232540387

Pathogenic/Likely pathogenic

Lethal multiple pterygium syndrome
Autosomal recessive multiple pterygium syndrome
Arthrogryposis-like hand anomaly
Ankle flexion contracture
Scoliosis
Condition: not provided
Autosomal recessive multiple pterygium syndrome
Lethal multiple pterygium syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA2168554

rs_764266722

7 SubmittersRCV000660641 RCV001257366 RCV001381627 RCV003992363 RCV004596320

NM_000079.4(CHRNA1):c.280G>T (p.Gly94Cys)

SNV
Germline

Chr2:174757630

Conflicting classifications of pathogenicity

Lethal multiple pterygium syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1974603

rs_199470444

4 SubmittersRCV000685192 RCV003144481 RCV005240459

NM_000079.4(CHRNA1):c.64G>A (p.Glu22Lys)

SNV
Germline

Chr2:174759613

Conflicting classifications of pathogenicity

Lethal multiple pterygium syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1974707

rs_368979094

2 SubmittersRCV000698047 RCV003144542

NM_000079.4(CHRNA1):c.1067A>C (p.Lys356Thr)

SNV
Germline

Chr2:174748755

Conflicting classifications of pathogenicity

Lethal multiple pterygium syndrome
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1974372

rs_146863119

3 SubmittersRCV000701057 RCV002533611 RCV003144553

NM_000751.3(CHRND):c.389A>T (p.Asn130Ile)

SNV
Germline

Chr2:232528536

Conflicting classifications of pathogenicity

Condition: not provided
Lethal multiple pterygium syndrome

Criteria Provided
Conflicting Classifications

CA350997872

rs_1553574327

2 SubmittersRCV000711200 RCV001039702

NM_000751.3(CHRND):c.730C>T (p.Arg244Cys)

SNV
Germline

Chr2:232530049

Conflicting classifications of pathogenicity

Condition: not provided
Lethal multiple pterygium syndrome

Criteria Provided
Conflicting Classifications

CA2168127

rs_376642208

2 SubmittersRCV000711201 RCV001039701

NM_005199.5(CHRNG):c.274C>T (p.Arg92Ter)

SNV
Germline

Chr2:232540635

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive multiple pterygium syndrome
Lethal multiple pterygium syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA351007525

rs_1559302834

3 SubmittersRCV000757091 RCV002493380

NM_000751.3(CHRND):c.1480T>C (p.Tyr494His)

SNV
Germline

Chr2:232535238

Conflicting classifications of pathogenicity

Lethal multiple pterygium syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2168369

rs_368695808

3 SubmittersRCV000803667 RCV003144625

NM_000751.3(CHRND):c.821-2A>C

SNV
Germline

Chr2:232531350

Pathogenic/Likely pathogenic

Lethal multiple pterygium syndrome
Congenital myasthenic syndrome 3C
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA2168172

rs_762875734

3 SubmittersRCV000799156 RCV003147550 RCV004696997

NM_000751.3(CHRND):c.880C>T (p.Leu294Phe)

SNV
Germline

Chr2:232531411

Conflicting classifications of pathogenicity

Slow-Channel Congenital Myasthenia Syndrome
Lethal multiple pterygium syndrome
Centronuclear myopathy
Condition: not provided
Congenital myasthenic syndrome 3A

Criteria Provided
Conflicting Classifications

CA351002593

rs_1574633904

5 SubmittersRCV000855540 RCV001858525 RCV004586959 RCV004721652 RCV005870937

NM_000079.4(CHRNA1):c.1064A>G (p.Glu355Gly)

SNV
Germline

Chr2:174748758

Conflicting classifications of pathogenicity

Lethal multiple pterygium syndrome
Condition: not provided
CHRNA1-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA1974373

rs_144533405

5 SubmittersRCV000876516 RCV003145221 RCV004751774 RCV006265392

NM_000751.3(CHRND):c.27G>C (p.Gly9=)

SNV
Germline

Chr2:232526242

Conflicting classifications of pathogenicity

Lethal multiple pterygium syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2167858

rs_554645326

2 SubmittersRCV000878547 RCV003145225

NM_000751.3(CHRND):c.1477G>A (p.Val493Ile)

SNV
Germline

Chr2:232535235

Conflicting classifications of pathogenicity

Lethal multiple pterygium syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2168367

rs_567130034

2 SubmittersRCV000874279 RCV003145217

NM_000751.3(CHRND):c.849G>A (p.Ser283=)

SNV
Germline

Chr2:232531380

Conflicting classifications of pathogenicity

Lethal multiple pterygium syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2168176

rs_749757968

4 SubmittersRCV001484201 RCV004711447

NM_000751.3(CHRND):c.480C>T (p.Phe160=)

SNV
Germline

Chr2:232528627

Conflicting classifications of pathogenicity

Lethal multiple pterygium syndrome
Congenital myasthenic syndrome

Criteria Provided
Conflicting Classifications

CA2168035

rs_200986300

2 SubmittersRCV000886766 RCV001140969

NM_000079.4(CHRNA1):c.1143C>T (p.Gly381=)

SNV
Germline

Chr2:174748679

Conflicting classifications of pathogenicity

Condition: not provided
Lethal multiple pterygium syndrome

Criteria Provided
Conflicting Classifications

CA1974358

rs_767048858

2 SubmittersRCV000979356 RCV001490179

NM_000751.3(CHRND):c.1007G>A (p.Arg336Gln)

SNV
Germline

Chr2:232531616

Likely pathogenic

Lethal multiple pterygium syndrome
Condition: not provided
CHRND-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA2168225

rs_375623674

3 SubmittersRCV000987056 RCV004697019 RCV005871053

NM_000079.4(CHRNA1):c.370A>T (p.Lys124Ter)

SNV
Germline

Chr2:174754389

Pathogenic

Lethal multiple pterygium syndrome

Criteria Provided
Single Submitter

CA349341639

rs_1683929269

1 SubmittersRCV001070130

NM_000079.4(CHRNA1):c.137G>A (p.Arg46His)

SNV
Germline

Chr2:174759540

Conflicting classifications of pathogenicity

Lethal multiple pterygium syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1974694

rs_149851833

2 SubmittersRCV001054312 RCV004977939

NM_000751.3(CHRND):c.415G>A (p.Val139Met)

SNV
Germline

Chr2:232528562

Conflicting classifications of pathogenicity

Lethal multiple pterygium syndrome
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2168024

rs_147452877

3 SubmittersRCV001037592 RCV003156303 RCV003346263

NM_000751.3(CHRND):c.823G>A (p.Gly275Ser)

SNV
Germline

Chr2:232531354

Conflicting classifications of pathogenicity

Lethal multiple pterygium syndrome
Condition: not provided
Congenital myasthenic syndrome 3B
Congenital myasthenic syndrome 3C
Lethal multiple pterygium syndrome

Criteria Provided
Conflicting Classifications

CA2168174

rs_373187583

4 SubmittersRCV001042032 RCV003145273 RCV004731082

NM_000751.3(CHRND):c.1256G>A (p.Arg419Gln)

SNV
Germline

Chr2:232534227

Conflicting classifications of pathogenicity

Lethal multiple pterygium syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2168317

rs_564930869

2 SubmittersRCV001060689 RCV005801996

NM_000079.4(CHRNA1):c.*499A>T

SNV
Germline

Chr2:174747625

Conflicting classifications of pathogenicity

Lethal multiple pterygium syndrome
Congenital myasthenic syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA60846289

rs_574135903

2 SubmittersRCV001131601 RCV001131602 RCV003117777

NM_000079.4(CHRNA1):c.711C>T (p.Asn237=)

SNV
Germline

Chr2:174753570

Conflicting classifications of pathogenicity

Congenital myasthenic syndrome
Lethal multiple pterygium syndrome
not specified

Criteria Provided
Conflicting Classifications

CA1974489

rs_137852798

3 SubmittersRCV001129175 RCV001129174 RCV006455456

NM_000079.4(CHRNA1):c.2T>C (p.Met1Thr)

SNV
Germline

Chr2:174764393

Conflicting classifications of pathogenicity

Condition: not provided
Lethal multiple pterygium syndrome
Congenital myasthenic syndrome

Criteria Provided
Conflicting Classifications

CA1974733

rs_779169597

4 SubmittersRCV001564791 RCV001136251 RCV001136252

NM_000751.3(CHRND):c.267G>C (p.Lys89Asn)

SNV
Germline

Chr2:232528285

Conflicting classifications of pathogenicity

Lethal multiple pterygium syndrome
Congenital myasthenic syndrome

Criteria Provided
Conflicting Classifications

CA2167978

rs_545298641

2 SubmittersRCV001138386 RCV001138387

NM_000751.3(CHRND):c.*908A>G

SNV
Germline

Chr2:232536220

Conflicting classifications of pathogenicity

Congenital myasthenic syndrome
Lethal multiple pterygium syndrome

Criteria Provided
Conflicting Classifications

CA66959554

rs_547787086

1 SubmittersRCV001141283 RCV001138706

NM_005199.5(CHRNG):c.82C>T (p.Arg28Cys)

SNV
Germline

Chr2:232540018

Conflicting classifications of pathogenicity

Autosomal recessive multiple pterygium syndrome
Lethal multiple pterygium syndrome
Condition: not provided
CHRNG-associated hypo-akinesia disorder of prenatal onset

Criteria Provided
Conflicting Classifications

CA2168497

rs_140623763

3 SubmittersRCV001138816 RCV001138815 RCV002070634 RCV005367729

NM_005199.5(CHRNG):c.132G>A (p.Ala44=)

SNV
Germline

Chr2:232540068

Conflicting classifications of pathogenicity

Lethal multiple pterygium syndrome
Autosomal recessive multiple pterygium syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2168514

rs_141402683

3 SubmittersRCV001141398 RCV001141399 RCV002557005

NM_005199.5(CHRNG):c.426G>A (p.Pro142=)

SNV
Germline

Chr2:232541449

Conflicting classifications of pathogenicity

Autosomal recessive multiple pterygium syndrome
Lethal multiple pterygium syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2168662

rs_375894671

3 SubmittersRCV001138914 RCV001138913 RCV003769660

NM_005199.5(CHRNG):c.573G>A (p.Glu191=)

SNV
Germline

Chr2:232542489

Conflicting classifications of pathogenicity

Lethal multiple pterygium syndrome
Autosomal recessive multiple pterygium syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2168720

rs_771417982

2 SubmittersRCV001143344 RCV001143345 RCV003574844

NM_005199.5(CHRNG):c.708C>T (p.Leu236=)

SNV
Germline

Chr2:232542985

Conflicting classifications of pathogenicity

Autosomal recessive multiple pterygium syndrome
Lethal multiple pterygium syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA431810948

rs_1308873617

2 SubmittersRCV001143348 RCV001143349 RCV003769685

NM_000751.3(CHRND):c.932+9C>T

SNV
Germline

Chr2:232531472

Conflicting classifications of pathogenicity

Congenital myasthenic syndrome
Lethal multiple pterygium syndrome

Criteria Provided
Conflicting Classifications

CA2168197

rs_367837942

2 SubmittersRCV001138072 RCV001138071

NM_005199.5(CHRNG):c.195+14C>T

SNV
Germline

Chr2:232540145

Conflicting classifications of pathogenicity

Lethal multiple pterygium syndrome
Autosomal recessive multiple pterygium syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2168527

rs_200640510

2 SubmittersRCV001141402 RCV001143244 RCV003769675

NM_005199.5(CHRNG):c.507-12G>A

SNV
Germline

Chr2:232542411

Conflicting classifications of pathogenicity

Lethal multiple pterygium syndrome
Autosomal recessive multiple pterygium syndrome
Condition: not provided
Cholangiocarcinoma

Criteria Provided
Conflicting Classifications

CA2168709

rs_184423691

5 SubmittersRCV001141514 RCV001143343 RCV001354957 RCV005913857

NM_000079.4(CHRNA1):c.844G>T (p.Glu282Ter)

SNV
Germline

Chr2:174750104

Pathogenic

Lethal multiple pterygium syndrome

Criteria Provided
Single Submitter

CA349336791

rs_1208011631

1 SubmittersRCV001229186

NM_000079.4(CHRNA1):c.271G>A (p.Asp91Asn)

SNV
Germline

Chr2:174757639

Conflicting classifications of pathogenicity

Lethal multiple pterygium syndrome
Myasthenic syndrome, congenital, 1B, fast-channel
Lethal multiple pterygium syndrome
not specified

Criteria Provided
Conflicting Classifications

CA349343761

rs_1684008469

3 SubmittersRCV001231188 RCV004731107 RCV006269341

NM_000751.3(CHRND):c.160G>A (p.Val54Ile)

SNV
Germline

Chr2:232526636

Conflicting classifications of pathogenicity

Lethal multiple pterygium syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2167913

rs_369869476

2 SubmittersRCV001228646 RCV002563707

NM_000751.3(CHRND):c.698G>A (p.Arg233His)

SNV
Germline

Chr2:232530017

Conflicting classifications of pathogenicity

Lethal multiple pterygium syndrome
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2168120

rs_146416320

4 SubmittersRCV001236619 RCV004609690 RCV005630897

NM_005199.5(CHRNG):c.994C>T (p.Arg332Trp)

SNV
Germline

Chr2:232543658

Conflicting classifications of pathogenicity

Rheumatoid arthritis
not specified
Autosomal recessive multiple pterygium syndrome
Condition: not provided
Autosomal recessive multiple pterygium syndrome
Lethal multiple pterygium syndrome

Criteria Provided
Conflicting Classifications

CA2168883

rs_567899708

6 SubmittersRCV001375908 RCV002298919 RCV003235521 RCV003660879 RCV005360004

NM_000079.4(CHRNA1):c.1184C>T (p.Ala395Val)

SNV
Germline

Chr2:174748638

Conflicting classifications of pathogenicity

Inborn genetic diseases
Lethal multiple pterygium syndrome

Criteria Provided
Conflicting Classifications

CA1974349

rs_768878508

2 SubmittersRCV002561292 RCV001468398

NM_000079.4(CHRNA1):c.254T>C (p.Leu85Pro)

SNV
Germline

Chr2:174757656

Likely pathogenic

Lethal multiple pterygium syndrome
Congenital myasthenic syndrome 1A

Criteria Provided
Single Submitter

CA349343847

rs_2105350715

1 SubmittersRCV001533178 RCV004813177

NM_005199.5(CHRNG):c.56-1G>A

SNV
Germline

Chr2:232539991

Pathogenic

Condition: not provided
Autosomal recessive multiple pterygium syndrome
Lethal multiple pterygium syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA351006821

rs_1265493319

3 SubmittersRCV001780505 RCV005014658

NM_000751.3(CHRND):c.248G>A (p.Trp83Ter)

SNV
Germline

Chr2:232528266

Pathogenic/Likely pathogenic

Congenital myasthenic syndrome 3B
Lethal multiple pterygium syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA350997383

rs_2106208285

2 SubmittersRCV002227557 RCV002541179

NM_000751.3(CHRND):c.1006C>T (p.Arg336Ter)

SNV
Germline

Chr2:232531615

Conflicting classifications of pathogenicity

Condition: not provided
Lethal multiple pterygium syndrome

Criteria Provided
Conflicting Classifications

CA2168224

rs_754087173

4 SubmittersRCV001780783 RCV005095129

NM_000079.4(CHRNA1):c.935C>A (p.Thr312Asn)

SNV
Germline

Chr2:174750013

Conflicting classifications of pathogenicity

Lethal multiple pterygium syndrome
Lethal multiple pterygium syndrome
Myasthenic syndrome, congenital, 1B, fast-channel
Congenital myasthenic syndrome 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1974423

rs_746404398

3 SubmittersRCV001944867 RCV002478159 RCV003303242

NM_000079.4(CHRNA1):c.249C>A (p.Tyr83Ter)

SNV
Germline

Chr2:174757661

Pathogenic

Lethal multiple pterygium syndrome

Criteria Provided
Single Submitter

CA349343863

rs_1684009556

1 SubmittersRCV001934247

NM_000751.3(CHRND):c.1252+1G>A

SNV
Germline

Chr2:232534136

Pathogenic/Likely pathogenic

Lethal multiple pterygium syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA351005348

rs_1285705072

2 SubmittersRCV001998299 RCV006698440

NM_000751.3(CHRND):c.243+1G>A

SNV
Germline

Chr2:232527446

Likely pathogenic

Lethal multiple pterygium syndrome

Criteria Provided
Single Submitter

CA2167952

rs_751237539

1 SubmittersRCV002006966

NM_000751.3(CHRND):c.2T>C (p.Met1Thr)

SNV
Germline

Chr2:232526217

Pathogenic

Lethal multiple pterygium syndrome

Criteria Provided
Single Submitter

CA2167853

rs_750174953

1 SubmittersRCV002012450

NM_000751.3(CHRND):c.70G>A (p.Glu24Lys)

SNV
Germline

Chr2:232526546

Conflicting classifications of pathogenicity

Lethal multiple pterygium syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2167891

rs_144310284

3 SubmittersRCV002085131 RCV004721017

NM_000079.4(CHRNA1):c.676G>A (p.Val226Ile)

SNV
Germline

Chr2:174753605

Conflicting classifications of pathogenicity

Lethal multiple pterygium syndrome
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1974494

rs_200102479

3 SubmittersRCV002208032 RCV003146512 RCV003161436

NM_000079.4(CHRNA1):c.1A>G (p.Met1Val)

SNV
Germline

Chr2:174764394

Conflicting classifications of pathogenicity

Lethal multiple pterygium syndrome

Criteria Provided
Conflicting Classifications

CA1974734

rs_146464862

3 SubmittersRCV002266219

NM_005199.5(CHRNG):c.351-2A>G

SNV
Germline

Chr2:232541372

Likely pathogenic

Autosomal recessive multiple pterygium syndrome
Condition: not provided
Lethal multiple pterygium syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA2168639

rs_751234287

3 SubmittersRCV002468823 RCV003775499 RCV004782938

NM_000751.3(CHRND):c.628G>T (p.Glu210Ter)

SNV
Germline

Chr2:232529947

Pathogenic

Lethal multiple pterygium syndrome

Criteria Provided
Single Submitter

CA351000551

rs_1417363003

1 SubmittersRCV003068350

NM_000751.3(CHRND):c.59G>A (p.Trp20Ter)

SNV
Germline

Chr2:232526535

Pathogenic

Lethal multiple pterygium syndrome

Criteria Provided
Single Submitter

CA2167890

rs_764374927

1 SubmittersRCV003084861

NM_000751.3(CHRND):c.932+2T>A

SNV
Germline

Chr2:232531465

Likely pathogenic

Lethal multiple pterygium syndrome

Criteria Provided
Single Submitter

CA2168195

rs_748559696

1 SubmittersRCV002700636

NM_000751.3(CHRND):c.423G>C (p.Trp141Cys)

SNV
Germline

Chr2:232528570

Likely pathogenic

Lethal multiple pterygium syndrome

Criteria Provided
Single Submitter

CA350998097

rs_2469719176

1 SubmittersRCV003047821

NM_005199.5(CHRNG):c.257G>A (p.Arg86His)

SNV
Germline

Chr2:232540618

Conflicting classifications of pathogenicity

Inborn genetic diseases
Autosomal recessive multiple pterygium syndrome
Autosomal recessive multiple pterygium syndrome
Lethal multiple pterygium syndrome

Criteria Provided
Conflicting Classifications

CA2168588

rs_550521607

3 SubmittersRCV003178937 RCV004557266 RCV006685949

NM_005199.5(CHRNG):c.794T>G (p.Leu265Arg)

SNV
Germline

Chr2:232543071

Likely pathogenic

Lethal multiple pterygium syndrome

Criteria Provided
Single Submitter

CA351012421

rs_2469751477

1 SubmittersRCV003236547

NM_000079.4(CHRNA1):c.44-1G>A

SNV
Germline

Chr2:174759634

Likely pathogenic

Lethal multiple pterygium syndrome

Criteria Provided
Single Submitter

CA349344822

rs_1574011727

1 SubmittersRCV003317980

NM_000079.4(CHRNA1):c.778+2T>A

SNV
Germline

Chr2:174753501

Likely pathogenic

Lethal multiple pterygium syndrome

Criteria Provided
Single Submitter

CA349338622

rs_1457407106

1 SubmittersRCV003517021

NM_005199.5(CHRNG):c.805+1G>A

SNV
Germline

Chr2:232543083

Likely pathogenic

Condition: not provided
Autosomal recessive multiple pterygium syndrome
Lethal multiple pterygium syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA2168792

rs_367938116

3 SubmittersRCV003854312 RCV005030327

NM_005199.5(CHRNG):c.2T>C (p.Met1Thr)

SNV
Germline

Chr2:232539749

Likely pathogenic

Autosomal recessive multiple pterygium syndrome
Lethal multiple pterygium syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005020862

NM_005199.5(CHRNG):c.166A>T (p.Lys56Ter)

SNV
Germline

Chr2:232540102

Likely pathogenic

Autosomal recessive multiple pterygium syndrome
Lethal multiple pterygium syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005024344

NM_005199.5(CHRNG):c.246G>A (p.Trp82Ter)

SNV
Germline

Chr2:232540607

Likely pathogenic

Autosomal recessive multiple pterygium syndrome
Lethal multiple pterygium syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005024345

NM_005199.5(CHRNG):c.249C>A (p.Cys83Ter)

SNV
Germline

Chr2:232540610

Likely pathogenic

Autosomal recessive multiple pterygium syndrome
Lethal multiple pterygium syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005020864

NM_005199.5(CHRNG):c.350+2T>C

SNV
Germline

Chr2:232540713

Pathogenic/Likely pathogenic

Autosomal recessive multiple pterygium syndrome
Lethal multiple pterygium syndrome
Autosomal recessive multiple pterygium syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005020865 RCV005867235

NM_005199.5(CHRNG):c.482G>A (p.Trp161Ter)

SNV
Germline

Chr2:232541505

Pathogenic

Autosomal recessive multiple pterygium syndrome
Lethal multiple pterygium syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005024346

NM_005199.5(CHRNG):c.1035+2C>A

SNV
Germline

Chr2:232543701

Likely pathogenic

Autosomal recessive multiple pterygium syndrome
Lethal multiple pterygium syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005024348

NM_005199.5(CHRNG):c.1035+2C>G

SNV
Germline

Chr2:232543701

Likely pathogenic

Autosomal recessive multiple pterygium syndrome
Lethal multiple pterygium syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005020868

NM_005199.5(CHRNG):c.1380+1G>A

SNV
Germline

Chr2:232544903

Pathogenic/Likely pathogenic

Autosomal recessive multiple pterygium syndrome
Lethal multiple pterygium syndrome
Lethal multiple pterygium syndrome
Autosomal recessive multiple pterygium syndrome

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV005024350 RCV006699516 RCV006646216

NM_000079.4(CHRNA1):c.379A>T (p.Lys127Ter)

SNV
Germline

Chr2:174754380

Pathogenic

Lethal multiple pterygium syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005114944

NM_000751.3(CHRND):c.510-1G>T

SNV
Germline

Chr2:232528861