Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_015559.3(SETBP1):c.2612T>C (p.Ile871Thr)	SNV Germline	Chr18:44951952	Pathogenic/Likely pathogenic	Schinzel-Giedion syndrome Condition: not provided Intellectual disability, autosomal dominant 29 Fetal akinesia deformation sequence 1 Arthrogryposis multiplex congenita SETBP1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA114715	rs_267607038	12 SubmittersRCV000001086 RCV000255245 RCV001007919 RCV000855501 RCV004532268
NM_182961.4(SYNE1):c.15918-12A>G	SNV Germline	Chr6:152321898	Pathogenic	Autosomal recessive ataxia, Beauce type Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Emery-Dreifuss muscular dystrophy 4, autosomal dominant SYNE1-related disorder Arthrogryposis multiplex congenita 3, myogenic type Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Multiple Submitters No Conflicts	CA252215	rs_606231134	8 SubmittersRCV000002416 RCV000423940 RCV000763141 RCV003330382 RCV004734495 RCV005031382
NM_182961.4(SYNE1):c.8695A>T (p.Arg2899Ter)	SNV Germline	Chr6:152381320	Pathogenic	Autosomal recessive ataxia, Beauce type Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Condition: not provided Arthrogryposis multiplex congenita 3, myogenic type Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Multiple Submitters No Conflicts	CA252216	rs_119103243	6 SubmittersRCV000002417 RCV005222660 RCV001288046 RCV005041971
NM_182961.4(SYNE1):c.25381G>A (p.Glu8461Lys)	SNV Germline	Chr6:152140027	Conflicting classifications of pathogenicity	Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Condition: not provided not specified Autosomal recessive ataxia, Beauce type Intellectual disability Autosomal recessive ataxia, Beauce type Arthrogryposis multiplex congenita 3, myogenic type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA115488	rs_119103248	12 SubmittersRCV000002424 RCV000535163 RCV000713651 RCV001002110 RCV000987800 RCV001252121 RCV005394106
NM_182961.4(SYNE1):c.24313-2A>G	SNV Germline	Chr6:152151692	Pathogenic	Arthrogryposis multiplex congenita 3, myogenic type	No Assertion Criteria Provided	CA366086814	rs_1586285494	1 SubmittersRCV000002425
NM_001164508.2(NEB):c.1152+1G>A	SNV Germline	Chr2:151706880	Pathogenic	Nemaline myopathy 2 Condition: not provided Arthrogryposis multiplex congenita 6 Nemaline myopathy Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA222737	rs_398124167	9 SubmittersRCV000174538 RCV000790650 RCV001449897 RCV001174709 RCV002477236
NM_001164508.2(NEB):c.3567+1G>A	SNV Germline	Chr2:151677875	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA153986	rs_587780399	4 SubmittersRCV001260937 RCV004567031
NM_001378183.1(PIEZO2):c.8396G>A (p.Arg2799His)	SNV Germline	Chr18:10671729	Pathogenic	Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome Gordon syndrome Inborn genetic diseases Arthrogryposis multiplex congenita Fetal akinesia deformation sequence 1 Gordon syndrome Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome Condition: not provided Arthrogryposis, distal, with impaired proprioception and touch	Criteria Provided Multiple Submitters No Conflicts	CA090890	rs_587777450	15 SubmittersRCV000224805 RCV000125478 RCV000623552 RCV000855472 RCV003224865 RCV001091982 RCV003147342
NM_000540.3(RYR1):c.9579C>G (p.Cys3193Trp)	SNV Germline	Chr19:38516111	Conflicting classifications of pathogenicity	Condition: not provided Fetal akinesia deformation sequence 1 Arthrogryposis multiplex congenita Central core myopathy RYR1-related disorder Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA024994	rs_587784379	7 SubmittersRCV000147451 RCV000855485 RCV001004921 RCV001036190 RCV003998165
NM_000540.3(RYR1):c.4405C>T (p.Arg1469Trp)	SNV Germline	Chr19:38477821	Conflicting classifications of pathogenicity	Congenital myopathy not specified RYR1-related disorder Condition: not provided Fetal akinesia deformation sequence 1 Arthrogryposis multiplex congenita Congenital myopathy with fiber type disproportion See cases Neuromuscular disease Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome Congenital multicore myopathy with external ophthalmoplegia	Criteria Provided Conflicting Classifications	CA024441	rs_200546266	18 SubmittersRCV000148819 RCV000501380 RCV000534955 RCV000520385 RCV000855482 RCV001198313 RCV004797783 RCV004017422 RCV003998172 RCV004767091 RCV005406848
NM_001164508.2(NEB):c.21076C>T (p.Arg7026Ter)	SNV Germline	Chr2:151537898	Pathogenic/Likely pathogenic	Non-immune hydrops fetalis Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Nemaline myopathy 2 Nemaline myopathy Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA199704	rs_769345284	7 SubmittersRCV000170577 RCV000664706 RCV002478527 RCV000781653 RCV003468850
NM_000335.5(SCN5A):c.5210C>T (p.Ser1737Phe)	SNV Germline	Chr3:38551159	Conflicting classifications of pathogenicity	Condition: not provided Fetal akinesia deformation sequence 1 Arthrogryposis multiplex congenita Cardiac arrhythmia Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA018989	rs_786205271	6 SubmittersRCV000171697 RCV000855502 RCV001842522 RCV005480327
NM_198569.3(ADGRG6):c.19C>T (p.Arg7Ter)	SNV Germline	Chr6:142309560	Pathogenic	Arthrogryposis multiplex congenita Lethal congenital contracture syndrome 9	Criteria Provided Single Submitter	CA200210	rs_749355583	3 SubmittersRCV000172977 RCV000186598
NM_198569.3(ADGRG6):c.2306T>A (p.Val769Glu)	SNV Germline	Chr6:142408187	Pathogenic/Likely pathogenic	Arthrogryposis multiplex congenita Lethal congenital contracture syndrome 9	Criteria Provided Multiple Submitters No Conflicts	CA200214	rs_793888525	3 SubmittersRCV000172979 RCV000186600
NM_182961.4(SYNE1):c.14263C>T (p.Leu4755Phe)	SNV Germline	Chr6:152330422	Conflicting classifications of pathogenicity	not specified Emery-Dreifuss muscular dystrophy 4, autosomal dominant Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Condition: not provided Autosomal recessive ataxia, Beauce type SYNE1-related disorder Arthrogryposis multiplex congenita 3, myogenic type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type	Criteria Provided Conflicting Classifications	CA247458	rs_41301343	11 SubmittersRCV000180075 RCV000316351 RCV000533703 RCV000710240 RCV000714610 RCV004537501 RCV005031716
NM_001164508.2(NEB):c.539A>G (p.Lys180Arg)	SNV Germline	Chr2:151724333	Conflicting classifications of pathogenicity	not specified Condition: not provided Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Conflicting Classifications	CA247643	rs_200719359	9 SubmittersRCV000245711 RCV000514389 RCV001085642 RCV001578687
NM_001164508.2(NEB):c.18862G>A (p.Val6288Ile)	SNV Germline	Chr2:151562640	Conflicting classifications of pathogenicity	Nemaline myopathy 2 Condition: not provided Inborn genetic diseases Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Conflicting Classifications	CA248313	rs_201886728	8 SubmittersRCV000540531 RCV000724505 RCV002516829 RCV002492794
NM_001164508.2(NEB):c.7291G>A (p.Glu2431Lys)	SNV Germline	Chr2:151650316	Conflicting classifications of pathogenicity	Nemaline myopathy not specified Arthrogryposis multiplex congenita 6 Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Conflicting Classifications	CA16616822	rs_767302772	5 SubmittersRCV005252833 RCV004689691 RCV003475836 RCV003514331 RCV005025395
NM_001164508.2(NEB):c.19944G>A (p.Ser6648=)	SNV Germline	Chr2:151551738	Pathogenic	Condition: not provided Inborn genetic diseases Nemaline myopathy 2 Nemaline myopathy Arthrogryposis multiplex congenita 6 NEB-related disorder Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Reviewed By Expert Panel	CA1907493	rs_201553266	17 SubmittersRCV000224886 RCV000622763 RCV000541914 RCV000780536 RCV001836641 RCV004547569 RCV004796118
NM_001164508.2(NEB):c.12018+1G>A	SNV Germline	Chr2:151610515	Pathogenic/Likely pathogenic	Condition: not provided Nemaline myopathy 2 Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Nemaline myopathy	Criteria Provided Multiple Submitters No Conflicts	CA1908612	rs_762278237	8 SubmittersRCV000254952 RCV000593350 RCV005016658 RCV005238809
NM_018136.5(ASPM):c.3082+1G>C	SNV Germline	Chr1:197125045	Pathogenic/Likely pathogenic	Condition: not provided Fetal akinesia deformation sequence 1 Arthrogryposis multiplex congenita Microcephaly 5, primary, autosomal recessive	Criteria Provided Multiple Submitters No Conflicts	CA10602744	rs_886041709	4 SubmittersRCV000294377 RCV000855492 RCV002503977
NM_001164508.2(NEB):c.11806-1G>A	SNV Germline	Chr2:151610867	Pathogenic/Likely pathogenic	Condition: not provided Nemaline myopathy 2 NEB-related disorder Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA10602804	rs_886041851	5 SubmittersRCV000277796 RCV001214721 RCV004737397 RCV004527372
NM_001164508.2(NEB):c.24114+1G>A	SNV Germline	Chr2:151499297	Pathogenic/Likely pathogenic	Condition: not provided Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA1906151	rs_755239192	9 SubmittersRCV000387492 RCV000625834 RCV003469210 RCV002503971
NM_001164508.2(NEB):c.20654C>T (p.Ala6885Val)	SNV Germline	Chr2:151541475	Conflicting classifications of pathogenicity	Condition: not provided Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Nemaline myopathy 2 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1907204	rs_202209668	9 SubmittersRCV000292919 RCV000535305 RCV002502095 RCV002518819
NM_001164508.2(NEB):c.10341G>A (p.Met3447Ile)	SNV Germline	Chr2:151627008	Conflicting classifications of pathogenicity	not specified Condition: not provided Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Nemaline myopathy 2 Inborn genetic diseases NEB-related disorder	Criteria Provided Conflicting Classifications	CA1909062	rs_370053963	12 SubmittersRCV000314743 RCV000724952 RCV001081955 RCV005396864 RCV002519098 RCV004547657
NM_182961.4(SYNE1):c.11218A>G (p.Thr3740Ala)	SNV Germline	Chr6:152353298	Conflicting classifications of pathogenicity	Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Arthrogryposis multiplex congenita 3, myogenic type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Condition: not provided	Criteria Provided Conflicting Classifications	CA4056751	rs_144797744	7 SubmittersRCV000701706 RCV000286476 RCV000341441 RCV001535685 RCV000713581
NM_182961.4(SYNE1):c.16984C>T (p.Arg5662Cys)	SNV Germline	Chr6:152310431	Conflicting classifications of pathogenicity	Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Condition: not provided Inborn genetic diseases SYNE1-related disorder Intellectual disability Arthrogryposis multiplex congenita 3, myogenic type Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4055383	rs_145899734	15 SubmittersRCV000266512 RCV000321614 RCV000710244 RCV002518932 RCV004535321 RCV001252119 RCV001331537 RCV001362101
NM_182961.4(SYNE1):c.24577C>T (p.Arg8193Ter)	SNV Germline	Chr6:152149542	Pathogenic	Condition: not provided Arthrogryposis multiplex congenita 3, myogenic type	Criteria Provided Multiple Submitters No Conflicts	CA4053145	rs_760715690	5 SubmittersRCV000352027 RCV000787308
NM_003282.4(TNNI2):c.54G>C (p.Leu18=)	SNV Germline	Chr11:1840441	Conflicting classifications of pathogenicity	Arthrogryposis multiplex congenita not specified Arthrogryposis multiplex congenita distal Condition: not provided	Criteria Provided Conflicting Classifications	CA5815063	rs_181679318	4 SubmittersRCV000265562 RCV000307894 RCV000364828 RCV001705427
NM_001164508.2(NEB):c.294+2T>C	SNV Germline	Chr2:151727689	Pathogenic/Likely pathogenic	Condition: not provided Nemaline myopathy 2 Nemaline myopathy Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA1911959	rs_773952935	7 SubmittersRCV000414510 RCV000303625 RCV001192840 RCV003469243
NM_001164508.2(NEB):c.22429G>A (p.Gly7477Ser)	SNV Germline	Chr2:151524361	Conflicting classifications of pathogenicity	Condition: not provided Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Conflicting Classifications	CA10606067	rs_764674361	5 SubmittersRCV000316633 RCV000660520 RCV005396897
NM_001164508.2(NEB):c.3211A>C (p.Ile1071Leu)	SNV Germline	Chr2:151679765	Conflicting classifications of pathogenicity	Condition: not provided Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1910972	rs_35194393	10 SubmittersRCV000326103 RCV001130401 RCV001578688 RCV002522010
NM_001164508.2(NEB):c.1550A>G (p.Asn517Ser)	SNV Germline	Chr2:151696656	Conflicting classifications of pathogenicity	Condition: not provided Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Conflicting Classifications	CA1911541	rs_199710125	5 SubmittersRCV000355760 RCV000691778 RCV002504024
NM_001164508.2(NEB):c.17897C>T (p.Pro5966Leu)	SNV Germline	Chr2:151567427	Conflicting classifications of pathogenicity	Nemaline myopathy 2 Inborn genetic diseases Condition: not provided Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Conflicting Classifications	CA1908071	rs_368912483	8 SubmittersRCV000281201 RCV000622600 RCV000595871 RCV005398453
NM_001164508.2(NEB):c.3986A>C (p.Asp1329Ala)	SNV Germline	Chr2:151674478	Conflicting classifications of pathogenicity	Nemaline myopathy 2 Condition: not provided Actin accumulation myopathy Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Conflicting Classifications	CA1910775	rs_115986826	9 SubmittersRCV000531206 RCV001705498 RCV003483605 RCV005018693
NM_001164508.2(NEB):c.1899A>T (p.Arg633Ser)	SNV Germline	Chr2:151692360	Conflicting classifications of pathogenicity	Condition: not provided Nemaline myopathy 2 NEB-related disorder Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Conflicting Classifications	CA1911395	rs_77826191	7 SubmittersRCV000494281 RCV001086153 RCV004549753 RCV005398456
NM_001164508.2(NEB):c.10583G>A (p.Arg3528His)	SNV Germline	Chr2:151619740	Conflicting classifications of pathogenicity	Nemaline myopathy 2 Condition: not provided Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Conflicting Classifications	CA1908984	rs_199584268	7 SubmittersRCV000822266 RCV001753794 RCV002480174
NM_001164508.2(NEB):c.23127+2T>C	SNV Germline	Chr2:151514316	Likely pathogenic	Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Multiple Submitters No Conflicts	CA10612274	rs_112610938	3 SubmittersRCV003470318 RCV000701787
NM_001164508.2(NEB):c.25165C>T (p.Arg8389Trp)	SNV Germline	Chr2:151490504	Conflicting classifications of pathogenicity	Nemaline myopathy 2 Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Condition: not provided	Criteria Provided Conflicting Classifications	CA1905791	rs_373551215	7 SubmittersRCV000536760 RCV005398451 RCV000521206
NM_001164508.2(NEB):c.20162T>C (p.Leu6721Pro)	SNV Germline	Chr2:151547734	Conflicting classifications of pathogenicity	Nemaline myopathy 2 Condition: not provided Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Conflicting Classifications	CA1907400	rs_111517514	10 SubmittersRCV000691644 RCV001577784 RCV005398452
NM_001164508.2(NEB):c.17462G>A (p.Arg5821His)	SNV Germline	Chr2:151569341	Conflicting classifications of pathogenicity	Nemaline myopathy 2 Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Condition: not provided	Criteria Provided Conflicting Classifications	CA1908205	rs_773239926	5 SubmittersRCV000795724 RCV002487462 RCV003129840
NM_001164508.2(NEB):c.9743A>G (p.Asn3248Ser)	SNV Germline	Chr2:151629627	Conflicting classifications of pathogenicity	Nemaline myopathy 2 Condition: not provided Inborn genetic diseases Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Conflicting Classifications	CA1909215	rs_139548702	7 SubmittersRCV000798629 RCV003129843 RCV003243088 RCV005398455
NM_001164508.2(NEB):c.4666C>T (p.Pro1556Ser)	SNV Germline	Chr2:151667857	Conflicting classifications of pathogenicity	Nemaline myopathy 2 Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1910565	rs_756692621	6 SubmittersRCV000688136 RCV002487463 RCV003133235 RCV005438889
NM_182961.4(SYNE1):c.13417G>A (p.Glu4473Lys)	SNV Germline	Chr6:152331268	Conflicting classifications of pathogenicity	Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Arthrogryposis multiplex congenita 3, myogenic type Condition: not provided	Criteria Provided Conflicting Classifications	CA4056181	rs_554814659	3 SubmittersRCV000275716 RCV000314518 RCV004579543 RCV003137974
NM_182961.4(SYNE1):c.16831C>T (p.Arg5611Trp)	SNV Germline	Chr6:152310753	Conflicting classifications of pathogenicity	Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive myogenic arthrogryposis multiplex congenita Condition: not provided Inborn genetic diseases Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type	Criteria Provided Conflicting Classifications	CA4055423	rs_369292604	8 SubmittersRCV000785031 RCV000785032 RCV000785033 RCV000713609 RCV002520410 RCV001850885
NM_006757.4(TNNT3):c.68-14C>T	SNV Germline	Chr11:1926681	Conflicting classifications of pathogenicity	Arthrogryposis multiplex congenita distal Arthrogryposis multiplex congenita Condition: not provided	Criteria Provided Conflicting Classifications	CA5816218	rs_202175253	2 SubmittersRCV000306102 RCV000353956 RCV002056186
NM_006757.4(TNNT3):c.107-6G>A	SNV Germline	Chr11:1929804	Conflicting classifications of pathogenicity	Arthrogryposis multiplex congenita Arthrogryposis multiplex congenita distal Condition: not provided TNNT3-related disorder	Criteria Provided Conflicting Classifications	CA5816332	rs_200739738	4 SubmittersRCV000274334 RCV000357414 RCV000881418 RCV003920253
NM_006757.4(TNNT3):c.480+9C>T	SNV Germline	Chr11:1934454	Conflicting classifications of pathogenicity	Arthrogryposis multiplex congenita Arthrogryposis multiplex congenita distal Condition: not provided	Criteria Provided Conflicting Classifications	CA5816487	rs_374137056	2 SubmittersRCV000285416 RCV000342706 RCV000960162
NM_006757.4(TNNT3):c.722+15C>T	SNV Germline	Chr11:1937018	Conflicting classifications of pathogenicity	Arthrogryposis multiplex congenita distal Arthrogryposis multiplex congenita Condition: not provided	Criteria Provided Conflicting Classifications	CA5816641	rs_201336939	2 SubmittersRCV000327607 RCV000384456 RCV002056188
NM_006757.4(TNNT3):c.759C>T (p.Val253=)	SNV Germline	Chr11:1938474	Conflicting classifications of pathogenicity	Arthrogryposis multiplex congenita distal Arthrogryposis multiplex congenita Condition: not provided	Criteria Provided Conflicting Classifications	CA5816664	rs_140388684	3 SubmittersRCV000286943 RCV000379080 RCV000883985
NM_003282.4(TNNI2):c.61G>A (p.Val21Met)	SNV Germline	Chr11:1840531	Conflicting classifications of pathogenicity	Arthrogryposis multiplex congenita Arthrogryposis multiplex congenita distal Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5815095	rs_200110633	5 SubmittersRCV000266804 RCV000317217 RCV000994540 RCV002522192
NM_003282.4(TNNI2):c.216C>T (p.Ile72=)	SNV Germline	Chr11:1840848	Conflicting classifications of pathogenicity	Arthrogryposis multiplex congenita distal Arthrogryposis multiplex congenita Condition: not provided	Criteria Provided Conflicting Classifications	CA5815169	rs_777907501	2 SubmittersRCV000292625 RCV000352138 RCV001753765
NM_006757.4(TNNT3):c.417C>T (p.Asp139=)	SNV Germline	Chr11:1934382	Conflicting classifications of pathogenicity	Arthrogryposis multiplex congenita Arthrogryposis multiplex congenita distal Condition: not provided	Criteria Provided Conflicting Classifications	CA5816475	rs_367932695	2 SubmittersRCV000290644 RCV000382694 RCV002056187
NM_006757.4(TNNT3):c.690G>A (p.Thr230=)	SNV Germline	Chr11:1936971	Conflicting classifications of pathogenicity	Arthrogryposis multiplex congenita distal Arthrogryposis multiplex congenita Condition: not provided	Criteria Provided Conflicting Classifications	CA5816634	rs_753756081	2 SubmittersRCV000270354 RCV000362568 RCV002520713
NM_003282.4(TNNI2):c.387G>A (p.Ser129=)	SNV Germline	Chr11:1841141	Conflicting classifications of pathogenicity	Arthrogryposis multiplex congenita distal Arthrogryposis multiplex congenita Condition: not provided	Criteria Provided Conflicting Classifications	CA5815256	rs_139399106	2 SubmittersRCV000343871 RCV000392125 RCV001697740
NM_006757.4(TNNT3):c.429G>A (p.Lys143=)	SNV Germline	Chr11:1934394	Conflicting classifications of pathogenicity	Arthrogryposis multiplex congenita Arthrogryposis multiplex congenita distal Condition: not provided	Criteria Provided Conflicting Classifications	CA5816480	rs_184687090	2 SubmittersRCV000347825 RCV000399278 RCV000943408
NM_006757.4(TNNT3):c.*86C>T	SNV Germline	Chr11:1938578	Conflicting classifications of pathogenicity	Distal arthrogryposis type 2B1 Arthrogryposis multiplex congenita Condition: not provided	Criteria Provided Conflicting Classifications	CA5816692	rs_200540491	2 SubmittersRCV000351478 RCV000391778 RCV001653493
NM_001164508.2(NEB):c.8038C>T (p.Arg2680Ter)	SNV Germline	Chr2:151643272	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA16040849	rs_1057516676	3 SubmittersRCV000409018 RCV003470330
NM_001164508.2(NEB):c.7228-1G>A	SNV Germline	Chr2:151650380	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Nemaline myopathy Arthrogryposis multiplex congenita 6 Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA16040851	rs_1057516996	6 SubmittersRCV000412054 RCV001420895 RCV003463800 RCV005027464
NM_001164508.2(NEB):c.3987+1G>A	SNV Germline	Chr2:151674476	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Nemaline myopathy Condition: not provided Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA1910773	rs_780022652	7 SubmittersRCV000410029 RCV000781655 RCV001723970 RCV003470347
NM_001164508.2(NEB):c.2415+2T>C	SNV Germline	Chr2:151688290	Likely pathogenic	Nemaline myopathy 2 Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA16040855	rs_1057517399	3 SubmittersRCV000411510 RCV005027467 RCV004567890
NM_001164508.2(NEB):c.412C>T (p.Arg138Ter)	SNV Germline	Chr2:151724952	Pathogenic	Nemaline myopathy 2 Condition: not provided Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA16040858	rs_1057517360	7 SubmittersRCV000411613 RCV001796023 RCV002488842 RCV004567889
NM_001164508.2(NEB):c.4720-2A>G	SNV Germline	Chr2:151666403	Likely pathogenic	Condition: not provided Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA16042348	rs_1057518353	2 SubmittersRCV000413634 RCV004567900
NM_001164508.2(NEB):c.9046C>T (p.Arg3016Ter)	SNV Germline	Chr2:151636283	Pathogenic/Likely pathogenic	Condition: not provided Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Nemaline myopathy Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Multiple Submitters No Conflicts	CA16042419	rs_1057517977	7 SubmittersRCV000413859 RCV000667230 RCV003470361 RCV004586700 RCV005027474
NM_001164508.2(NEB):c.23989C>T (p.Arg7997Ter)	SNV Germline	Chr2:151501423	Conflicting classifications of pathogenicity	Condition: not provided Progressive proximal muscle weakness Limb pain Muscular dystrophy Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 NEB-related disorder Nemaline myopathy	Criteria Provided Conflicting Classifications	CA1906173	rs_549794342	21 SubmittersRCV000416049 RCV000414803 RCV002480270 RCV000576327 RCV003476003 RCV004551415 RCV003155176
NM_001164508.2(NEB):c.23742+2T>C	SNV Germline	Chr2:151505476	Conflicting classifications of pathogenicity	Nemaline myopathy 2 not specified Condition: not provided Arthrogryposis multiplex congenita 6 Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Nemaline myopathy	Criteria Provided Conflicting Classifications	CA1906270	rs_545937015	11 SubmittersRCV000416472 RCV001195395 RCV001782898 RCV003476005 RCV005018715 RCV005252884
NM_001164508.2(NEB):c.20956G>C (p.Asp6986His)	SNV Germline	Chr2:151538181	Conflicting classifications of pathogenicity	Condition: not provided Nemaline myopathy 2 Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 NEB-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1907121	rs_150874422	7 SubmittersRCV000425742 RCV000550442 RCV002506082 RCV004551506 RCV004955486
NM_001164508.2(NEB):c.9619-2A>G	SNV Germline	Chr2:151630821	Pathogenic/Likely pathogenic	Condition: not provided Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Nemaline myopathy 2 Nemaline myopathy	Criteria Provided Multiple Submitters No Conflicts	CA1909252	rs_375145370	9 SubmittersRCV000444827 RCV002480289 RCV000528659 RCV004782377
NM_001164508.2(NEB):c.16273C>T (p.Gln5425Ter)	SNV Germline	Chr2:151581494	Likely pathogenic	Condition: not provided Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA16617243	rs_1064796311	2 SubmittersRCV000486583 RCV003470584
NM_139284.3(LGI4):c.793G>A (p.Ala265Thr)	SNV Germline	Chr19:35126853	Pathogenic	Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect	No Assertion Criteria Provided	CA9373252	rs_779232987	1 SubmittersRCV000487489
NM_139284.3(LGI4):c.863G>A (p.Trp288Ter)	SNV Germline	Chr19:35126706	Pathogenic	Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect	No Assertion Criteria Provided	CA16621544	rs_775997446	1 SubmittersRCV000487492
NM_139284.3(LGI4):c.793+5G>C	SNV Germline	Chr19:35126848	Pathogenic	Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect	No Assertion Criteria Provided	CA16621545	rs_1064797093	1 SubmittersRCV000487486
NM_139284.3(LGI4):c.1301T>A (p.Val434Asp)	SNV Germline	Chr19:35125506	Pathogenic	Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect	No Assertion Criteria Provided	CA16621546	rs_1064797094	1 SubmittersRCV000487490
NM_139284.3(LGI4):c.1299+5G>T	SNV Germline	Chr19:35126265	Pathogenic	Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect	No Assertion Criteria Provided	CA16621547	rs_1064797095	1 SubmittersRCV000487493
NM_139284.3(LGI4):c.773G>C (p.Arg258Pro)	SNV Germline	Chr19:35126873	Pathogenic	Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect	No Assertion Criteria Provided	CA9373257	rs_755500591	1 SubmittersRCV000487487
NM_000158.4(GBE1):c.1693C>T (p.Arg565Trp)	SNV Germline	Chr3:81537021	Conflicting classifications of pathogenicity	Condition: not provided Arthrogryposis multiplex congenita Fetal akinesia deformation sequence 1 Adult polyglucosan body disease Glycogen storage disease, type IV not specified Glycogen storage disease, type IV Glycogen storage disease IV, classic hepatic	Criteria Provided Conflicting Classifications	CA2499591	rs_552094593	7 SubmittersRCV000487962 RCV000855462 RCV001329659 RCV001829394 RCV003330722 RCV002528222
NM_001164508.2(NEB):c.21417+3A>G	SNV Germline	Chr2:151533439	Conflicting classifications of pathogenicity	Condition: not provided Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 NEB-related disorder Nemaline myopathy Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Conflicting Classifications	CA1906977	rs_148950085	11 SubmittersRCV000493255 RCV001086213 RCV003470617 RCV004737563 RCV005407155 RCV004796202
NM_001164508.2(NEB):c.24588C>G (p.Tyr8196Ter)	SNV Germline	Chr2:151493859	Pathogenic	Condition: not provided Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA1905979	rs_754272530	6 SubmittersRCV000498615 RCV000670685 RCV003470620
NM_000540.3(RYR1):c.10620C>G (p.Tyr3540Ter)	SNV Germline	Chr19:38525496	Pathogenic	Arthrogryposis multiplex congenita	Criteria Provided Single Submitter	CA405644022	rs_758247804	1 SubmittersRCV000499002
NM_001164508.2(NEB):c.25336C>T (p.Arg8446Ter)	SNV Germline	Chr2:151490039	Pathogenic	Condition: not provided Nemaline myopathy 2 Nemaline myopathy Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA1905735	rs_200731870	8 SubmittersRCV000520480 RCV000665375 RCV001174690 RCV003476221
NM_001164508.2(NEB):c.25183C>T (p.Arg8395Ter)	SNV Germline	Chr2:151490486	Pathogenic/Likely pathogenic	Condition: not provided Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 NEB-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA1905784	rs_747179265	6 SubmittersRCV000522200 RCV000763062 RCV004568671 RCV004553149
NM_001164508.2(NEB):c.19405C>T (p.Arg6469Ter)	SNV Germline	Chr2:151554954	Pathogenic/Likely pathogenic	Condition: not provided Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348792192	rs_1553740233	4 SubmittersRCV000523219 RCV000984199 RCV003476223
NM_001164508.2(NEB):c.11627G>A (p.Trp3876Ter)	SNV Germline	Chr2:151612364	Pathogenic	Nemaline myopathy 2 Condition: not provided Nemaline myopathy Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA1908708	rs_776569219	6 SubmittersRCV000529040 RCV000521697 RCV003993996 RCV003476222
NM_001164508.2(NEB):c.9047G>A (p.Arg3016Gln)	SNV Germline	Chr2:151636282	Conflicting classifications of pathogenicity	Condition: not provided Nemaline myopathy 2 Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Conflicting Classifications	CA1909431	rs_373587647	6 SubmittersRCV000519197 RCV000556075 RCV005398756
NM_001164508.2(NEB):c.3255+1G>A	SNV Germline	Chr2:151679720	Pathogenic	Condition: not provided Nemaline myopathy 2 Nemaline myopathy Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA1910960	rs_375628303	11 SubmittersRCV000519006 RCV000536181 RCV001192838 RCV003470651
NM_181789.4(GLDN):c.1428C>A (p.Phe476Leu)	SNV Germline	Chr15:51404526	Pathogenic/Likely pathogenic	Condition: not provided Arthrogryposis multiplex congenita Fetal akinesia deformation sequence 1 Lethal congenital contracture syndrome 11	Criteria Provided Multiple Submitters No Conflicts	CA7560758	rs_750803388	3 SubmittersRCV000524042 RCV000855464 RCV004594071
NM_001164508.2(NEB):c.24393+1G>A	SNV Germline	Chr2:151496940	Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA1906073	rs_775631800	4 SubmittersRCV000540499 RCV003470750
NM_001164508.2(NEB):c.5939T>C (p.Leu1980Ser)	SNV Germline	Chr2:151662166	Conflicting classifications of pathogenicity	Nemaline myopathy 2 Condition: not provided Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Conflicting Classifications	CA1910237	rs_375412223	7 SubmittersRCV000529425 RCV003129901 RCV002506339
NM_001164508.2(NEB):c.3007G>C (p.Val1003Leu)	SNV Germline	Chr2:151680765	Conflicting classifications of pathogenicity	Nemaline myopathy 2 Condition: not provided Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Conflicting Classifications	CA1911044	rs_149471462	4 SubmittersRCV000534614 RCV003133325 RCV005357587
NM_001164508.2(NEB):c.2920C>T (p.Arg974Ter)	SNV Germline	Chr2:151682685	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Nemaline myopathy	Criteria Provided Multiple Submitters No Conflicts	CA348821398	rs_1553548666	4 SubmittersRCV000530974 RCV001449887 RCV004017670
NM_001164508.2(NEB):c.20158-6A>G	SNV Germline	Chr2:151547744	Conflicting classifications of pathogenicity	not specified Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Nemaline myopathy	Criteria Provided Conflicting Classifications	CA658683265	rs_1553715636	5 SubmittersRCV000579107 RCV001834828 RCV002250662 RCV005252970
NM_001164508.2(NEB):c.11164C>T (p.Arg3722Ter)	SNV Germline	Chr2:151617381	Pathogenic/Likely pathogenic	Nemaline myopathy Nemaline myopathy 2 Condition: not provided Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA57640117	rs_928945364	8 SubmittersRCV000590386 RCV000674606 RCV003129932 RCV003157724
NM_001164508.2(NEB):c.24454C>T (p.Arg8152Ter)	SNV Germline	Chr2:151496308	Pathogenic/Likely pathogenic	Nemaline myopathy Condition: not provided Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA16021311	rs_763364977	10 SubmittersRCV000586673 RCV001783093 RCV000763063 RCV002476276 RCV004568306
NM_001164508.2(NEB):c.24113C>A (p.Ser8038Ter)	SNV Germline	Chr2:151499299	Pathogenic/Likely pathogenic	Nemaline myopathy Nemaline myopathy 2 Condition: not provided Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348779352	rs_1458048713	6 SubmittersRCV000588345 RCV000666431 RCV001591353 RCV003465324
NM_005055.5(RAPSN):c.272G>T (p.Arg91Leu)	SNV Germline	Chr11:47448071	Conflicting classifications of pathogenicity	Condition: not provided Fetal akinesia deformation sequence 1 Arthrogryposis multiplex congenita Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 11 Fetal akinesia deformation sequence 2	Criteria Provided Conflicting Classifications	CA5976768	rs_375218091	5 SubmittersRCV000591406 RCV000855473 RCV001867917 RCV003465332
NM_004560.4(ROR2):c.808A>G (p.Ile270Val)	SNV Germline	Chr9:91733251	Conflicting classifications of pathogenicity	Condition: not provided Fetal akinesia deformation sequence 1 Arthrogryposis multiplex congenita	Criteria Provided Conflicting Classifications	CA5120886	rs_145631389	4 SubmittersRCV000597894 RCV000855499
NM_001164508.2(NEB):c.10872+1G>T	SNV Germline	Chr2:151619450	Pathogenic	Nemaline myopathy Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter	CA348787368	rs_1336053002	2 SubmittersRCV005252996 RCV000611131
NM_001164508.2(NEB):c.24041T>C (p.Val8014Ala)	SNV Germline	Chr2:151499371	Conflicting classifications of pathogenicity	Nemaline myopathy 2 Condition: not provided NEB-related disorder Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Conflicting Classifications	CA1906159	rs_200269437	6 SubmittersRCV000690819 RCV003133394 RCV004737885 RCV005392165
NM_001164508.2(NEB):c.24579G>A (p.Ser8193=)	SNV Germline	Chr2:151494161	Pathogenic/Likely pathogenic	Inborn genetic diseases Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Nemaline myopathy 2 Condition: not provided Nemaline myopathy Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA1905995	rs_202048855	9 SubmittersRCV000623853 RCV000820159 RCV002506517 RCV003153763 RCV004586841 RCV003465358
NM_001164508.2(NEB):c.5344-1G>C	SNV Germline	Chr2:151664609	Likely pathogenic	Inborn genetic diseases Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348811156	rs_1197561990	3 SubmittersRCV000624651 RCV000674712 RCV003465359
NM_004826.4(ECEL1):c.494T>C (p.Leu165Pro)	SNV Germline	Chr2:232486160	Conflicting classifications of pathogenicity	Inborn genetic diseases Arthrogryposis multiplex congenita Distal arthrogryposis type 5D Condition: not provided	Criteria Provided Conflicting Classifications	CA2167588	rs_765305996	5 SubmittersRCV000623280 RCV000787365 RCV001809702 RCV001756022
NM_001031711.3(ERGIC1):c.293T>A (p.Val98Glu)	SNV Germline	Chr5:172914756	Pathogenic	Arthrogryposis multiplex congenita 2, neurogenic type	No Assertion Criteria Provided	CA362152610	rs_1554112524	1 SubmittersRCV000626312
NM_001164508.2(NEB):c.7309C>T (p.Arg2437Trp)	SNV Germline	Chr2:151650298	Conflicting classifications of pathogenicity	Nemaline myopathy 2 Condition: not provided Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Conflicting Classifications	CA1909881	rs_375164626	8 SubmittersRCV000641337 RCV001662690 RCV002507092
NM_001164508.2(NEB):c.1493A>G (p.Asp498Gly)	SNV Germline	Chr2:151696713	Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Condition: not provided not specified Nemaline myopathy	Reviewed By Expert Panel	CA348825220	rs_1255744452	8 SubmittersRCV000641321 RCV003472031 RCV003148813 RCV003488752 RCV005253019
NM_182961.4(SYNE1):c.25223A>G (p.His8408Arg)	SNV Germline	Chr6:152141226	Conflicting classifications of pathogenicity	Condition: not provided SYNE1-related disorder Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Arthrogryposis multiplex congenita 3, myogenic type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4052897	rs_375476506	6 SubmittersRCV000713648 RCV004544876 RCV000647632 RCV005046832
NM_139284.3(LGI4):c.1153C>T (p.Gln385Ter)	SNV Germline	Chr19:35126416	Pathogenic	Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect	No Assertion Criteria Provided	CA405304273	rs_1366269616	1 SubmittersRCV000664223
NM_139284.3(LGI4):c.200T>G (p.Leu67Arg)	SNV Germline	Chr19:35134075	Likely pathogenic	Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect	No Assertion Criteria Provided	CA405315145	rs_1555734932	1 SubmittersRCV000664224
NM_001164508.2(NEB):c.25297+1G>A	SNV Germline	Chr2:151490371	Likely pathogenic	Nemaline myopathy 2 Nemaline myopathy Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348770893	rs_113525641	5 SubmittersRCV000667580 RCV001584536 RCV002507159 RCV004568511
NM_001164508.2(NEB):c.19101+5G>A	SNV Germline	Chr2:151561203	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Nemaline myopathy	Criteria Provided Multiple Submitters No Conflicts	CA1907770	rs_374929094	7 SubmittersRCV000673418 RCV003465527 RCV004586872
NM_001164508.2(NEB):c.18865C>T (p.Arg6289Ter)	SNV Germline	Chr2:151562637	Pathogenic/Likely pathogenic	Nemaline myopathy 2 NEB-related disorder Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA1907832	rs_539819851	5 SubmittersRCV000668686 RCV003233799 RCV003472105
NM_001164508.2(NEB):c.25057+1G>A	SNV Germline	Chr2:151492097	Conflicting classifications of pathogenicity	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Nemaline myopathy	Criteria Provided Conflicting Classifications	CA348773126	rs_1191429915	4 SubmittersRCV000667178 RCV003465466 RCV005253037
NM_001164508.2(NEB):c.24300+1G>A	SNV Germline	Chr2:151497625	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Condition: not provided Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348778705	rs_1366853918	4 SubmittersRCV000666960 RCV001784242 RCV004568503
NM_001164508.2(NEB):c.24220G>T (p.Glu8074Ter)	SNV Germline	Chr2:151497706	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348779052	rs_1218073575	4 SubmittersRCV000668980 RCV004568519
NM_001164508.2(NEB):c.11076+1G>A	SNV Germline	Chr2:151618274	Conflicting classifications of pathogenicity	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Nemaline myopathy	Criteria Provided Conflicting Classifications	CA348785559	rs_1460365350	3 SubmittersRCV000667252 RCV003465471 RCV005253041
NM_001164508.2(NEB):c.24212T>A (p.Leu8071Ter)	SNV Germline	Chr2:151497714	Pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Nemaline myopathy	Criteria Provided Multiple Submitters No Conflicts	CA57668896	rs_756726488	4 SubmittersRCV000667053 RCV004568506 RCV005253033
NM_001164508.2(NEB):c.9414+1G>T	SNV Germline	Chr2:151633653	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348802530	rs_1255445731	3 SubmittersRCV000671664 RCV003472140
NM_001164508.2(NEB):c.23451+1G>T	SNV Germline	Chr2:151508004	Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA57676889	rs_1011425121	4 SubmittersRCV000674962 RCV003472177 RCV005027830
NM_001164508.2(NEB):c.23451+1G>C	SNV Germline	Chr2:151508004	Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348784998	rs_1011425121	3 SubmittersRCV000673508 RCV003472157
NM_001164508.2(NEB):c.9346G>T (p.Glu3116Ter)	SNV Germline	Chr2:151633722	Likely pathogenic	Nemaline myopathy 2 Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Nemaline myopathy	Criteria Provided Multiple Submitters No Conflicts	CA348802926	rs_193042896	3 SubmittersRCV000667092 RCV005019114 RCV005253034
NM_001164508.2(NEB):c.24022-1G>A	SNV Germline	Chr2:151499391	Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348779696	rs_1553561697	4 SubmittersRCV000668888 RCV005019130 RCV003465486
NM_001164508.2(NEB):c.23241+2T>A	SNV Germline	Chr2:151513578	Likely pathogenic	Nemaline myopathy 2 Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter	CA348750841	rs_1553615846	2 SubmittersRCV000665797 RCV005019106
NM_001164508.2(NEB):c.22489C>T (p.Arg7497Ter)	SNV Germline	Chr2:151519759	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Nemaline myopathy Condition: not provided Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA1906623	rs_760935667	10 SubmittersRCV000672682 RCV000781656 RCV001784275 RCV005027816 RCV003472148
NM_001164508.2(NEB):c.22800+1G>A	SNV Germline	Chr2:151518317	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Condition: not provided Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348759026	rs_1302373559	4 SubmittersRCV000669212 RCV001784256 RCV003472112
NM_001164508.2(NEB):c.21736-2A>G	SNV Germline	Chr2:151527587	Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348769191	rs_1389892619	3 SubmittersRCV000664684 RCV003472067
NM_001164508.2(NEB):c.22591-1G>C	SNV Germline	Chr2:151519070	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA1906588	rs_757157808	3 SubmittersRCV000665581 RCV003472071
NM_001164508.2(NEB):c.18981C>G (p.Tyr6327Ter)	SNV Germline	Chr2:151562125	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	No Assertion Criteria Provided	CA348796638	rs_761964375	2 SubmittersRCV000673447 RCV001449900
NM_001164508.2(NEB):c.18891+1G>A	SNV Germline	Chr2:151562610	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Condition: not provided Arthrogryposis multiplex congenita 6 Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348797233	rs_1443738549	8 SubmittersRCV000667258 RCV000731470 RCV003465472 RCV002493092
NM_001164508.2(NEB):c.9724-1G>A	SNV Germline	Chr2:151629647	Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348798509	rs_1553934586	3 SubmittersRCV000667250 RCV004568508
NM_001164508.2(NEB):c.9724-2A>G	SNV Unknown	Chr2:151629648	Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter	CA348798520	rs_1553934597	2 SubmittersRCV000666954 RCV004568502
NM_001164508.2(NEB):c.9414+1G>A	SNV Germline	Chr2:151633653	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348802536	rs_1255445731	3 SubmittersRCV000669140 RCV003459606
NM_001164508.2(NEB):c.2211+5G>A	SNV Germline	Chr2:151691859	Conflicting classifications of pathogenicity	Nemaline myopathy 2 Condition: not provided Nemaline myopathy not specified Arthrogryposis multiplex congenita 6	Criteria Provided Conflicting Classifications	CA658823142	rs_797045736	7 SubmittersRCV000671466 RCV001784269 RCV005253054 RCV005418288 RCV003472138
NM_001164508.2(NEB):c.8889+1G>A	SNV Germline	Chr2:151639856	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Multiple Submitters No Conflicts	CA348809045	rs_1553963960	7 SubmittersRCV000671973 RCV005019144
NM_001164508.2(NEB):c.20131C>T (p.Arg6711Trp)	SNV Germline	Chr2:151548334	Conflicting classifications of pathogenicity	Nemaline myopathy 2 not specified Condition: not provided Arthrogryposis multiplex congenita 6	Criteria Provided Conflicting Classifications	CA1907431	rs_533233215	7 SubmittersRCV000670617 RCV002509500 RCV003129984 RCV003465501
NM_001164508.2(NEB):c.1674+2T>C	SNV Germline	Chr2:151695576	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348824801	rs_1553603437	4 SubmittersRCV000664673 RCV003472066
NM_001164508.2(NEB):c.18676C>T (p.Gln6226Ter)	SNV Germline	Chr2:151563623	Pathogenic	Nemaline myopathy 2 Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Nemaline myopathy	Criteria Provided Multiple Submitters No Conflicts	CA348798689	rs_1475648900	4 SubmittersRCV000673657 RCV002499187 RCV003226364
NM_001164508.2(NEB):c.20659C>T (p.Arg6887Ter)	SNV Germline	Chr2:151541470	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Nemaline myopathy Inborn genetic diseases Arthrogryposis multiplex congenita 6 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA1907202	rs_749452641	6 SubmittersRCV000674087 RCV001194218 RCV003243248 RCV003472164 RCV003325512
NM_001164508.2(NEB):c.613-1G>C	SNV Germline	Chr2:151723487	Likely pathogenic	Nemaline myopathy 2 Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA1911833	rs_767693366	3 SubmittersRCV000666879 RCV005019112
NM_001164508.2(NEB):c.11181+2T>C	SNV Unknown	Chr2:151617362	Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter	CA348784677	rs_1553904694	2 SubmittersRCV000673522 RCV004568555
NM_001164508.2(NEB):c.18808C>T (p.Arg6270Ter)	SNV Germline	Chr2:151562694	Pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Nemaline myopathy	Criteria Provided Multiple Submitters No Conflicts	CA57656219	rs_754369875	5 SubmittersRCV000668497 RCV003472100 RCV005253048
NM_001164508.2(NEB):c.4506+1G>A	SNV Germline	Chr2:151671022	Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA1910615	rs_112517981	3 SubmittersRCV000669059 RCV003472110
NM_001164508.2(NEB):c.11910+1G>A	SNV Germline	Chr2:151610761	Likely pathogenic	Nemaline myopathy 2 Condition: not provided Nemaline myopathy Arthrogryposis multiplex congenita 6	Reviewed By Expert Panel	CA57635829	rs_774495973	7 SubmittersRCV000667256 RCV003133493 RCV005253043 RCV004568509
NM_001164508.2(NEB):c.37-1G>A	SNV Germline	Chr2:151729657	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348797091	rs_1428597732	4 SubmittersRCV000667927 RCV005019123 RCV003459591
NM_001164508.2(NEB):c.3879+1G>A	SNV Germline	Chr2:151675286	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Nemaline myopathy Arthrogryposis multiplex congenita 6 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA1910808	rs_746999970	6 SubmittersRCV000670383 RCV002265844 RCV003465499 RCV003442015
NM_001164508.2(NEB):c.2943+1G>A	SNV Germline	Chr2:151682661	Pathogenic	Nemaline myopathy 2 Nemaline myopathy Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA1911078	rs_113091511	4 SubmittersRCV000667067 RCV001255511 RCV003465461
NM_001164508.2(NEB):c.2416-1G>C	SNV Germline	Chr2:151687734	Likely pathogenic	Nemaline myopathy 2 Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348823037	rs_1553565278	3 SubmittersRCV000672789 RCV005019149
NM_001164508.2(NEB):c.1570-2A>G	SNV Germline	Chr2:151695684	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Condition: not provided Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348825053	rs_1553603958	4 SubmittersRCV000674550 RCV000729399 RCV004568566
NM_001164508.2(NEB):c.1569+1G>A	SNV Germline	Chr2:151696636	Conflicting classifications of pathogenicity	Nemaline myopathy 2 Condition: not provided Nemaline myopathy Arthrogryposis multiplex congenita 6	Criteria Provided Conflicting Classifications	CA348825059	rs_1553605553	6 SubmittersRCV000667222 RCV001784247 RCV005253039 RCV003465470
NM_001164508.2(NEB):c.6076-1G>T	SNV Germline	Chr2:151658091	Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Nemaline myopathy Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Reviewed By Expert Panel	CA348802582	rs_1553469502	5 SubmittersRCV000668960 RCV003465487 RCV004732994 RCV005019131
NM_001164508.2(NEB):c.1365+2T>C	SNV Germline	Chr2:151697348	Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA57677350	rs_770797137	5 SubmittersRCV000667221 RCV004568507 RCV005027788
NM_001164508.2(NEB):c.3567+1G>C	SNV Unknown	Chr2:151677875	Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter	CA348818815	rs_587780399	2 SubmittersRCV000675022 RCV003472181
NM_001164508.2(NEB):c.1258-2A>G	SNV Germline	Chr2:151697459	Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348825795	rs_1553608621	3 SubmittersRCV000667220 RCV003465469
NM_001164508.2(NEB):c.5763+5G>A	SNV Germline	Chr2:151663543	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 NEB-related disorder Nemaline myopathy	Criteria Provided Multiple Submitters No Conflicts	CA1910287	rs_776167256	6 SubmittersRCV000667575 RCV004568510 RCV004698847 RCV005253046
NM_001164508.2(NEB):c.4337G>T (p.Gly1446Val)	SNV Germline	Chr2:151671192	Likely pathogenic	Nemaline myopathy 2 Nemaline myopathy Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348815947	rs_541803470	4 SubmittersRCV000666609 RCV001553645 RCV005027784
NM_001164508.2(NEB):c.3874A>G (p.Ser1292Gly)	SNV Germline	Chr2:151675292	Conflicting classifications of pathogenicity	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Nemaline myopathy	Criteria Provided Conflicting Classifications	CA348817869	rs_1553521537	5 SubmittersRCV000667109 RCV003465463 RCV005019115 RCV005253035
NM_001164508.2(NEB):c.1470+1G>A	SNV Germline	Chr2:151697147	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Condition: not provided Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348825282	rs_1220787593	4 SubmittersRCV000672930 RCV001784279 RCV005019150
NM_001164508.2(NEB):c.3255+1G>C	SNV Germline	Chr2:151679720	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Arthrogryposis multiplex congenita 6 Nemaline myopathy 2 Nemaline myopathy	Criteria Provided Multiple Submitters No Conflicts	CA1910961	rs_375628303	5 SubmittersRCV000668568 RCV003459598 RCV005019127 RCV005253050
NM_001164508.2(NEB):c.78+1G>A	SNV Germline	Chr2:151729614	Pathogenic	Nemaline myopathy 2 Nemaline myopathy Condition: not provided Arthrogryposis multiplex congenita 6 NEB-related disorder Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Reviewed By Expert Panel	CA1912012	rs_778593702	9 SubmittersRCV000667209 RCV000781651 RCV001784246 RCV003465467 RCV004547838 RCV005019117
NM_001164508.2(NEB):c.1153-2A>G	SNV Germline	Chr2:151697650	Conflicting classifications of pathogenicity	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Nemaline myopathy	Criteria Provided Conflicting Classifications	CA348826047	rs_1553609515	4 SubmittersRCV000667210 RCV003465468 RCV005253038
NM_000113.3(TOR1A):c.862C>T (p.Arg288Ter)	SNV Germline	Chr9:129814109	Pathogenic/Likely pathogenic	Early-onset generalized limb-onset dystonia Condition: not provided Arthrogryposis multiplex congenita 5 Dystonic disorder	Criteria Provided Multiple Submitters No Conflicts	CA5278519	rs_760768475	10 SubmittersRCV000677723 RCV001592856 RCV001250912 RCV005091969
NM_001164508.2(NEB):c.23986G>A (p.Glu7996Lys)	SNV Germline	Chr2:151501426	Conflicting classifications of pathogenicity	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Nemaline myopathy 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA348780470	rs_1202510810	4 SubmittersRCV000705808 RCV002485766 RCV003130021
NM_001164508.2(NEB):c.25172G>A (p.Arg8391Gln)	SNV Germline	Chr2:151490497	Conflicting classifications of pathogenicity	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Nemaline myopathy 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA1905787	rs_749034995	5 SubmittersRCV000686525 RCV002493148 RCV003133508
NM_001164508.2(NEB):c.5495T>C (p.Ile1832Thr)	SNV Germline	Chr2:151663816	Conflicting classifications of pathogenicity	Nemaline myopathy 2 Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1910351	rs_751494785	7 SubmittersRCV000696117 RCV002477581 RCV003133544 RCV004026366
NM_001164508.2(NEB):c.17242C>T (p.Arg5748Trp)	SNV Germline	Chr2:151570269	Conflicting classifications of pathogenicity	Nemaline myopathy 2 Condition: not provided Arthrogryposis multiplex congenita 6 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1908255	rs_546869744	6 SubmittersRCV000691938 RCV001756183 RCV003447553 RCV002544927
NM_001164508.2(NEB):c.5364G>A (p.Trp1788Ter)	SNV Germline	Chr2:151664588	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Nemaline myopathy	Criteria Provided Multiple Submitters No Conflicts	CA1910381	rs_201636991	3 SubmittersRCV000703915 RCV003465629 RCV005253083
NM_001164508.2(NEB):c.22170C>G (p.Tyr7390Ter)	SNV Germline	Chr2:151525265	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Nemaline myopathy Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Arthrogryposis multiplex congenita 6 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA1906743	rs_748922882	6 SubmittersRCV000701148 RCV000781648 RCV002499258 RCV003465616 RCV004719960
NM_001164508.2(NEB):c.21970A>C (p.Lys7324Gln)	SNV Germline	Chr2:151526238	Conflicting classifications of pathogenicity	Nemaline myopathy 2 Condition: not provided Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1906820	rs_756646859	6 SubmittersRCV000704917 RCV002286785 RCV002477626 RCV005372416
NM_139284.3(LGI4):c.2T>C (p.Met1Thr)	SNV Germline	Chr19:35134679	Pathogenic	Arthrogryposis multiplex congenita 2, neurogenic type	Criteria Provided Single Submitter	CA405315627	rs_1207534366	1 SubmittersRCV000766216
NM_001164508.2(NEB):c.1161C>G (p.Tyr387Ter)	SNV Germline	Chr2:151697640	Pathogenic/Likely pathogenic	Condition: not provided Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348826023	rs_1259297878	3 SubmittersRCV000712377 RCV001059086 RCV003465650
NM_004560.4(ROR2):c.1675G>A (p.Gly559Ser)	SNV Germline	Chr9:91724819	Conflicting classifications of pathogenicity	not specified Arthrogryposis multiplex congenita Fetal akinesia deformation sequence 1 Short stature Condition: not provided Brachydactyly type B1 Autosomal recessive Robinow syndrome	Criteria Provided Conflicting Classifications	CA5120613	rs_117134265	7 SubmittersRCV000732649 RCV000855500 RCV001310261 RCV000903196 RCV005047000
NM_001198800.3(ASCC1):c.626+1G>A	SNV Germline	Chr10:72161537	Pathogenic/Likely pathogenic	Spinal muscular atrophy with congenital bone fractures 2 Fetal akinesia deformation sequence 1 Condition: not provided Arthrogryposis multiplex congenita Fetal akinesia deformation sequence 1	Criteria Provided Multiple Submitters No Conflicts	CA5548982	rs_747595523	8 SubmittersRCV000791458 RCV001004046 RCV001796204 RCV000855457
NM_001164508.2(NEB):c.19030C>T (p.Gln6344Ter)	SNV Germline	Chr2:151561279	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348795582	rs_1559940778	2 SubmittersRCV000778566 RCV003465706
NM_001378183.1(PIEZO2):c.1384C>T (p.Arg462Ter)	SNV Germline	Chr18:10797517	Pathogenic	Arthrogryposis, distal, with impaired proprioception and touch Arthrogryposis multiplex congenita Fetal akinesia deformation sequence 1	Criteria Provided Single Submitter	CA401925060	rs_1568069621	2 SubmittersRCV000779589 RCV000855470
NM_001164508.2(NEB):c.25136T>G (p.Leu8379Ter)	SNV Germline	Chr2:151491697	Pathogenic	Nemaline myopathy Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Multiple Submitters No Conflicts	CA1905811	rs_760200697	4 SubmittersRCV000781652 RCV004569492 RCV001214341
NM_001164508.2(NEB):c.21793C>T (p.Arg7265Ter)	SNV Germline	Chr2:151527528	Pathogenic/Likely pathogenic	Nemaline myopathy Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Arthrogryposis multiplex congenita 6 Nemaline myopathy 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA1906876	rs_750900690	5 SubmittersRCV000780533 RCV001869153 RCV003467310 RCV005029436 RCV004719983
NM_001164508.2(NEB):c.20554G>T (p.Glu6852Ter)	SNV Germline	Chr2:151545911	Pathogenic/Likely pathogenic	Nemaline myopathy Nemaline myopathy 2 Condition: not provided Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Multiple Submitters No Conflicts	CA1907244	rs_777819332	4 SubmittersRCV000780532 RCV001384439 RCV001731923 RCV005029435
NM_182961.4(SYNE1):c.26236C>T (p.Arg8746Ter)	SNV Germline	Chr6:152122594	Pathogenic/Likely pathogenic	Arthrogryposis multiplex congenita 3, myogenic type Cleft lip/palate	Criteria Provided Multiple Submitters No Conflicts	CA4052600	rs_746177326	3 SubmittersRCV000787309 RCV005626209
NM_001164508.2(NEB):c.24650G>A (p.Arg8217His)	SNV Germline	Chr2:151493797	Conflicting classifications of pathogenicity	Nemaline myopathy 2 Condition: not provided Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Conflicting Classifications	CA1905968	rs_201291446	5 SubmittersRCV000822717 RCV003130076 RCV002501141
NM_001164508.2(NEB):c.24579G>C (p.Ser8193=)	SNV Germline	Chr2:151494161	Pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Arthrogryposis multiplex congenita 6 Nemaline myopathy 2 Nemaline myopathy	Criteria Provided Multiple Submitters No Conflicts	CA1905996	rs_202048855	5 SubmittersRCV000814228 RCV003472421 RCV005029499 RCV005253145
NM_001164508.2(NEB):c.24172C>T (p.Gln8058Ter)	SNV Germline	Chr2:151498295	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348779212	rs_1323364980	2 SubmittersRCV000795495 RCV003472345
NM_001164508.2(NEB):c.23626C>T (p.Gln7876Ter)	SNV Germline	Chr2:151506189	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA1906309	rs_537560378	2 SubmittersRCV000800326 RCV003467382
NM_001164508.2(NEB):c.18859C>T (p.Arg6287Cys)	SNV Germline	Chr2:151562643	Conflicting classifications of pathogenicity	Nemaline myopathy 2 Condition: not provided Arthrogryposis multiplex congenita 6 Nemaline myopathy 2 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1907835	rs_374606967	7 SubmittersRCV000801391 RCV002222638 RCV002507387 RCV004639361
NM_001164508.2(NEB):c.8381A>T (p.Tyr2794Phe)	SNV Germline	Chr2:151640659	Conflicting classifications of pathogenicity	Nemaline myopathy 2 Condition: not provided Arthrogryposis multiplex congenita 6 Nemaline myopathy Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Conflicting Classifications	CA1909597	rs_750548574	8 SubmittersRCV000810643 RCV003130061 RCV003467443 RCV005253141 RCV002507410
NM_001164508.2(NEB):c.6481C>T (p.Arg2161Cys)	SNV Germline	Chr2:151656167	Conflicting classifications of pathogenicity	Nemaline myopathy 2 Condition: not provided Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Conflicting Classifications	CA1910094	rs_201758329	4 SubmittersRCV000821245 RCV003132105 RCV002487840
NM_001164508.2(NEB):c.717+1G>A	SNV Germline	Chr2:151723381	Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348790210	rs_1577833924	2 SubmittersRCV000793645 RCV003467335
NM_001164508.2(NEB):c.1674+1G>A	SNV Germline	Chr2:151695577	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348824805	rs_750585238	2 SubmittersRCV000807407 RCV003467420
NM_182961.4(SYNE1):c.16390-2A>G	SNV Germline	Chr6:152318265	Pathogenic/Likely pathogenic	Autosomal recessive ataxia, Beauce type Autosomal recessive cerebellar ataxia Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Inborn genetic diseases Autosomal recessive ataxia, Beauce type Arthrogryposis multiplex congenita 3, myogenic type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Multiple Submitters No Conflicts	CA366112657	rs_759460806	8 SubmittersRCV000002415 RCV000826129 RCV000993140 RCV001383383 RCV001265815 RCV005036235
NM_015378.4(VPS13D):c.4243G>A (p.Asp1415Asn)	SNV Germline	Chr1:12277831	Conflicting classifications of pathogenicity	Fetal akinesia deformation sequence 1 Arthrogryposis multiplex congenita Condition: not provided VPS13D-related disorder	Criteria Provided Conflicting Classifications	CA602099	rs_79282181	4 SubmittersRCV000855522 RCV002064422 RCV003908141
NM_018136.5(ASPM):c.2863C>T (p.Gln955Ter)	SNV Germline	Chr1:197128563	Pathogenic	Fetal akinesia deformation sequence 1 Arthrogryposis multiplex congenita Microcephaly 5, primary, autosomal recessive Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA1310334	rs_774338373	3 SubmittersRCV000855491 RCV003453775 RCV001816923
NM_001100.4(ACTA1):c.739G>A (p.Gly247Arg)	SNV Germline	Chr1:229432063	Pathogenic	Fetal akinesia deformation sequence 1 Arthrogryposis multiplex congenita Actin accumulation myopathy	Criteria Provided Multiple Submitters No Conflicts	CA345146753	rs_1057521117	2 SubmittersRCV000855456 RCV003517274
NM_000751.3(CHRND):c.452G>C (p.Cys151Ser)	SNV Germline	Chr2:232528599	Likely pathogenic	Fetal akinesia deformation sequence 1 Arthrogryposis multiplex congenita	Criteria Provided Single Submitter	CA350998301	rs_1574630583	1 SubmittersRCV000855459
NM_001384125.1(BLTP1):c.3926G>A (p.Arg1309Gln)	SNV Unknown	Chr4:122239608	Likely pathogenic	Fetal akinesia deformation sequence 1 Arthrogryposis multiplex congenita	Criteria Provided Single Submitter	CA358089925	rs_1460624416	1 SubmittersRCV000855516
NM_001384125.1(BLTP1):c.12154T>C (p.Tyr4052His)	SNV Unknown	Chr4:122336233	Likely pathogenic	Fetal akinesia deformation sequence 1 Arthrogryposis multiplex congenita	Criteria Provided Single Submitter	CA3067930	rs_777407076	1 SubmittersRCV000855517
NM_177924.5(ASAH1):c.491G>T (p.Gly164Val)	SNV Germline	Chr8:18063197	Conflicting classifications of pathogenicity	Fetal akinesia deformation sequence 1 Arthrogryposis multiplex congenita Condition: not provided	Criteria Provided Conflicting Classifications	CA370431037	rs_1588980220	2 SubmittersRCV000855490 RCV002536200
NM_177924.5(ASAH1):c.88G>A (p.Asp30Asn)	SNV Germline	Chr8:18075578	Conflicting classifications of pathogenicity	Fetal akinesia deformation sequence 1 Arthrogryposis multiplex congenita Condition: not provided Farber lipogranulomatosis	Criteria Provided Conflicting Classifications	CA4651083	rs_200758704	4 SubmittersRCV000855489 RCV000983934 RCV001164025
NM_005055.5(RAPSN):c.794C>T (p.Ala265Val)	SNV Germline	Chr11:47441729	Conflicting classifications of pathogenicity	Fetal akinesia deformation sequence 1 Arthrogryposis multiplex congenita Fetal akinesia deformation sequence 2	Criteria Provided Conflicting Classifications	CA380329822	rs_1040279711	2 SubmittersRCV000855474 RCV005359606
NM_001330260.2(SCN8A):c.719T>C (p.Ile240Thr)	SNV Germline	Chr12:51699582	Likely pathogenic	Fetal akinesia deformation sequence 1 Arthrogryposis multiplex congenita Developmental and epileptic encephalopathy, 13	Criteria Provided Multiple Submitters No Conflicts	CA385226373	rs_1592387849	2 SubmittersRCV000855503 RCV001775152
NM_052867.4(NALCN):c.1783G>T (p.Val595Phe)	SNV Germline	Chr13:101176356	Likely pathogenic	Fetal akinesia deformation sequence 1 Arthrogryposis multiplex congenita	Criteria Provided Single Submitter	CA388702919	rs_1594368753	1 SubmittersRCV000855468
NM_052867.4(NALCN):c.950T>G (p.Phe317Cys)	SNV Germline	Chr13:101292087	Likely pathogenic	Fetal akinesia deformation sequence 1 Arthrogryposis multiplex congenita	Criteria Provided Single Submitter	CA388704839	rs_1594616249	1 SubmittersRCV000855467
NM_052867.4(NALCN):c.191A>G (p.Tyr64Cys)	SNV Unknown	Chr13:101395283	Likely pathogenic	Fetal akinesia deformation sequence 1 Arthrogryposis multiplex congenita	Criteria Provided Single Submitter	CA7036526	rs_762389271	1 SubmittersRCV000855469
NM_001376.5(DYNC1H1):c.10357G>A (p.Val3453Ile)	SNV Germline	Chr14:102033428	Conflicting classifications of pathogenicity	Fetal akinesia deformation sequence 1 Arthrogryposis multiplex congenita Charcot-Marie-Tooth disease axonal type 2O	Criteria Provided Conflicting Classifications	CA7353397	rs_778115137	2 SubmittersRCV000855520 RCV001366306
NM_001376.5(DYNC1H1):c.12600G>T (p.Gly4200=)	SNV Germline	Chr14:102043961	Conflicting classifications of pathogenicity	Fetal akinesia deformation sequence 1 Arthrogryposis multiplex congenita Charcot-Marie-Tooth disease axonal type 2O	Criteria Provided Conflicting Classifications	CA488186538	rs_1595633027	2 SubmittersRCV000855523 RCV001367404
NM_001083614.2(EARS2):c.814G>A (p.Ala272Thr)	SNV Germline	Chr16:23535032	Conflicting classifications of pathogenicity	Fetal akinesia deformation sequence 1 Arthrogryposis multiplex congenita Condition: not provided Mitochondrial disease	Criteria Provided Conflicting Classifications	CA7962501	rs_749912939	4 SubmittersRCV000855494 RCV001310323 RCV005359607
NM_003632.3(CNTNAP1):c.69C>G (p.Tyr23Ter)	SNV Germline	Chr17:42683822	Pathogenic	Fetal akinesia deformation sequence 1 Arthrogryposis multiplex congenita	Criteria Provided Single Submitter	CA399632041	rs_1597802927	1 SubmittersRCV000855460
NM_003632.3(CNTNAP1):c.1906G>A (p.Val636Met)	SNV Germline	Chr17:42690789	Likely pathogenic	Fetal akinesia deformation sequence 1 Arthrogryposis multiplex congenita	Criteria Provided Single Submitter	CA399642944	rs_1597807901	1 SubmittersRCV000855461
NM_000334.4(SCN4A):c.2018T>C (p.Leu673Pro)	SNV Unknown	Chr17:63959266	Likely pathogenic	Fetal akinesia deformation sequence 1 Arthrogryposis multiplex congenita	Criteria Provided Single Submitter	CA400631560	rs_1597978607	1 SubmittersRCV000855486
NM_001378183.1(PIEZO2):c.911A>G (p.Tyr304Cys)	SNV Unknown	Chr18:10855359	Conflicting classifications of pathogenicity	Fetal akinesia deformation sequence 1 Arthrogryposis multiplex congenita Arthrogryposis, distal, with impaired proprioception and touch	Criteria Provided Conflicting Classifications	CA8892803	rs_773449118	2 SubmittersRCV000855471 RCV003147564
NM_139284.3(LGI4):c.1031T>A (p.Leu344Gln)	SNV Germline	Chr19:35126538	Likely pathogenic	Fetal akinesia deformation sequence 1 Arthrogryposis multiplex congenita	Criteria Provided Single Submitter	CA405305171	rs_1201430967	1 SubmittersRCV000855466
NM_139284.3(LGI4):c.504G>C (p.Trp168Cys)	SNV Germline	Chr19:35131510	Conflicting classifications of pathogenicity	Fetal akinesia deformation sequence 1 Arthrogryposis multiplex congenita Condition: not provided	Criteria Provided Conflicting Classifications	CA9373323	rs_201728190	2 SubmittersRCV000855465 RCV004820124
NM_000540.3(RYR1):c.1835C>A (p.Ala612Asp)	SNV Unknown	Chr19:38457540	Likely pathogenic	Fetal akinesia deformation sequence 1 Arthrogryposis multiplex congenita	Criteria Provided Single Submitter	CA405693870	rs_1600682739	1 SubmittersRCV000855481
NM_000540.3(RYR1):c.2167G>A (p.Gly723Arg)	SNV Unknown	Chr19:38458292	Likely pathogenic	Fetal akinesia deformation sequence 1 Arthrogryposis multiplex congenita	Criteria Provided Single Submitter	CA062941	rs_755496104	1 SubmittersRCV000855475
NM_000540.3(RYR1):c.7298T>C (p.Leu2433Pro)	SNV Germline	Chr19:38499991	Conflicting classifications of pathogenicity	Fetal akinesia deformation sequence 1 Arthrogryposis multiplex congenita Condition: not provided RYR1-related disorder	Criteria Provided Conflicting Classifications	CA405669567	rs_1600822174	3 SubmittersRCV000855484 RCV002275162 RCV003117621
NM_000540.3(RYR1):c.8024C>A (p.Thr2675Lys)	SNV Germline	Chr19:38504317	Likely pathogenic	Fetal akinesia deformation sequence 1 Arthrogryposis multiplex congenita Centronuclear myopathy	Criteria Provided Multiple Submitters No Conflicts	CA405676016	rs_1600843056	2 SubmittersRCV000855478 RCV004586957
NM_000540.3(RYR1):c.10018G>A (p.Val3340Met)	SNV Germline	Chr19:38517691	Conflicting classifications of pathogenicity	Fetal akinesia deformation sequence 1 Arthrogryposis multiplex congenita Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA405693508	rs_1600892115	2 SubmittersRCV000855480 RCV004803279
NM_000540.3(RYR1):c.13998G>A (p.Lys4666=)	SNV Unknown	Chr19:38572270	Likely pathogenic	Fetal akinesia deformation sequence 1 Arthrogryposis multiplex congenita	Criteria Provided Single Submitter	CA507356267	rs_1599649479	1 SubmittersRCV000855483
NM_001001344.3(ATP2B3):c.197C>T (p.Ser66Leu)	SNV Germline	ChrX:153536444	Likely pathogenic	Fetal akinesia deformation sequence 1 Arthrogryposis multiplex congenita	Criteria Provided Single Submitter	CA415073373	rs_1603040061	1 SubmittersRCV000855493
NM_001164508.2(NEB):c.23140C>T (p.Arg7714Ter)	SNV Germline	Chr2:151513681	Pathogenic	Nemaline myopathy 2 Nemaline myopathy Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348751942	rs_1575714905	5 SubmittersRCV000986832 RCV001526961 RCV003467544
NM_001164508.2(NEB):c.22327C>T (p.Arg7443Ter)	SNV Germline	Chr2:151524562	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348765022	rs_1576203853	3 SubmittersRCV000986834 RCV004569829
NM_001164508.2(NEB):c.10612C>T (p.Arg3538Ter)	SNV Germline	Chr2:151619711	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348788689	rs_779909544	4 SubmittersRCV000986840 RCV005021290 RCV004569830
NM_017988.6(SCYL2):c.106C>T (p.Arg36Ter)	SNV Germline	Chr12:100283076	Pathogenic	Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum	Criteria Provided Single Submitter	CA6737976	rs_760124743	2 SubmittersRCV001000099
NM_001164508.2(NEB):c.13147C>T (p.Gln4383Ter)	SNV Germline	Chr2:151603685	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 NEB-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA348772320	rs_1212374733	4 SubmittersRCV001004942 RCV003467576 RCV004553551
NM_001164508.2(NEB):c.24988C>T (p.Arg8330Ter)	SNV Germline	Chr2:151492167	Pathogenic	Nemaline myopathy 2 Condition: not provided Nemaline myopathy Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA1905855	rs_767709270	7 SubmittersRCV001007837 RCV003141928 RCV003117687 RCV002497328 RCV003473553
NM_001164508.2(NEB):c.12330+2T>C	SNV Germline	Chr2:151609807	Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Nemaline myopathy	Criteria Provided Multiple Submitters No Conflicts	CA348776468	rs_1374971806	3 SubmittersRCV001027690 RCV003467698 RCV005253684
NM_001164508.2(NEB):c.7964A>G (p.Tyr2655Cys)	SNV Germline	Chr2:151643346	Conflicting classifications of pathogenicity	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Nemaline myopathy Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Conflicting Classifications	CA348813999	rs_1389374032	4 SubmittersRCV001044618 RCV003467734 RCV005253690 RCV005021365
NM_001164508.2(NEB):c.6262G>A (p.Val2088Ile)	SNV Germline	Chr2:151656386	Conflicting classifications of pathogenicity	Nemaline myopathy 2 Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Conflicting Classifications	CA1910136	rs_747729019	3 SubmittersRCV001049602 RCV002481951
NM_001164508.2(NEB):c.17845-2A>T	SNV Germline	Chr2:151567481	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Nemaline myopathy	Criteria Provided Multiple Submitters No Conflicts	CA348804231	rs_1177405905	3 SubmittersRCV001050990 RCV005029617 RCV005253694
NM_001164508.2(NEB):c.3879+2T>C	SNV Germline	Chr2:151675285	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348817851	rs_2099350888	2 SubmittersRCV001048753 RCV005021371
NM_001164508.2(NEB):c.12639+1G>A	SNV Germline	Chr2:151607503	Pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348774681	rs_2097758221	2 SubmittersRCV001048805 RCV003462542
NM_001164508.2(NEB):c.17118+1G>A	SNV Germline	Chr2:151570496	Pathogenic	Nemaline myopathy 2 Nemaline myopathy Condition: not provided Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA1908300	rs_747946275	5 SubmittersRCV001043979 RCV001824918 RCV001784590 RCV002481909
NM_001164508.2(NEB):c.22479G>C (p.Gln7493His)	SNV Germline	Chr2:151524311	Pathogenic/Likely pathogenic	Condition: not provided Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348764340	rs_1474341248	2 SubmittersRCV001091990 RCV003469285
NM_001164508.2(NEB):c.18157-2A>G	SNV Germline	Chr2:151565822	Pathogenic/Likely pathogenic	Condition: not provided Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Multiple Submitters No Conflicts	CA57659278	rs_925947627	3 SubmittersRCV001091991 RCV003469286 RCV003769022
NM_001164508.2(NEB):c.11717G>A (p.Arg3906His)	SNV Germline	Chr2:151612274	Conflicting classifications of pathogenicity	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Nemaline myopathy 2 Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA1908693	rs_556930902	8 SubmittersRCV001134806 RCV002491403 RCV001508087 RCV003331049
NM_001164508.2(NEB):c.5565C>A (p.Asp1855Glu)	SNV Germline	Chr2:151663746	Conflicting classifications of pathogenicity	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Nemaline myopathy 2 Condition: not provided NEB-related disorder	Criteria Provided Conflicting Classifications	CA1910339	rs_200468391	5 SubmittersRCV001133833 RCV005394756 RCV001553418 RCV004548010
NM_001164508.2(NEB):c.3571G>A (p.Val1191Ile)	SNV Germline	Chr2:151677768	Conflicting classifications of pathogenicity	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Nemaline myopathy 2 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1910867	rs_767493706	6 SubmittersRCV001135461 RCV002491404 RCV003438662 RCV005443249
NM_182961.4(SYNE1):c.11477A>G (p.Lys3826Arg)	SNV Germline	Chr6:152352130	Conflicting classifications of pathogenicity	Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Condition: not provided Emery-Dreifuss muscular dystrophy 4, autosomal dominant Arthrogryposis multiplex congenita 3, myogenic type Autosomal recessive ataxia, Beauce type	Criteria Provided Conflicting Classifications	CA4056684	rs_76410834	4 SubmittersRCV001151368 RCV001151369 RCV001340078 RCV003142081 RCV005394769
NM_182961.4(SYNE1):c.3481G>A (p.Gly1161Arg)	SNV Germline	Chr6:152449556	Conflicting classifications of pathogenicity	Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Condition: not provided Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Arthrogryposis multiplex congenita 3, myogenic type	Criteria Provided Conflicting Classifications	CA4058835	rs_149415204	4 SubmittersRCV001156271 RCV001156270 RCV001859019 RCV003142086 RCV005394770
NM_001164508.2(NEB):c.22831C>T (p.Arg7611Ter)	SNV Germline	Chr2:151516533	Pathogenic	Nemaline myopathy Nemaline myopathy 2 Condition: not provided Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA1906519	rs_555582398	7 SubmittersRCV001175588 RCV001222350 RCV001580057 RCV004570330
NM_001164508.2(NEB):c.9775C>T (p.Arg3259Ter)	SNV Germline	Chr2:151629595	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Nemaline myopathy Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348798091	rs_1301228529	4 SubmittersRCV001222507 RCV003469384 RCV005253747 RCV005021528
NM_001164508.2(NEB):c.24402C>G (p.Tyr8134Ter)	SNV Germline	Chr2:151496360	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Abnormality of the musculature Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA1906056	rs_758277406	3 SubmittersRCV001212317 RCV001814281 RCV005029770
NM_001164508.2(NEB):c.2647C>T (p.Arg883Ter)	SNV Germline	Chr2:151684966	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348822477	rs_1333519240	2 SubmittersRCV001201520 RCV003469320
NM_001164508.2(NEB):c.580C>T (p.Gln194Ter)	SNV Germline	Chr2:151724292	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348791984	rs_1032240985	2 SubmittersRCV001235353 RCV003469430
NM_001164508.2(NEB):c.19903G>A (p.Asp6635Asn)	SNV Germline	Chr2:151551779	Conflicting classifications of pathogenicity	Nemaline myopathy 2 Inborn genetic diseases Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Conflicting Classifications	CA1907501	rs_534519331	4 SubmittersRCV001241152 RCV004960625 RCV005394867
NM_001164508.2(NEB):c.19851T>A (p.Tyr6617Ter)	SNV Germline	Chr2:151551831	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348787326	rs_2095359371	2 SubmittersRCV001241288 RCV003473820
NM_001164508.2(NEB):c.19724G>A (p.Arg6575His)	SNV Germline	Chr2:151553405	Conflicting classifications of pathogenicity	Nemaline myopathy 2 Condition: not provided Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Conflicting Classifications	CA1907558	rs_185999504	4 SubmittersRCV001247714 RCV003132352 RCV002504365
NM_001164508.2(NEB):c.4151C>G (p.Pro1384Arg)	SNV Germline	Chr2:151672517	Conflicting classifications of pathogenicity	Nemaline myopathy 2 Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Conflicting Classifications	CA1910710	rs_762809955	3 SubmittersRCV001242827 RCV003448382
NM_000113.3(TOR1A):c.952G>A (p.Gly318Ser)	SNV Germline	Chr9:129814019	Pathogenic	Arthrogryposis multiplex congenita 5	No Assertion Criteria Provided	CA375197434	rs_2030965698	1 SubmittersRCV001250910
NM_139284.3(LGI4):c.1272C>A (p.Cys424Ter)	SNV Germline	Chr19:35126297	Likely pathogenic	Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect	Criteria Provided Single Submitter	CA405303811	rs_2065136111	1 SubmittersRCV001251121
NM_001164508.2(NEB):c.1152+1G>T	SNV Germline	Chr2:151706880	Pathogenic	Nemaline myopathy Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA1911683	rs_398124167	4 SubmittersRCV001251277 RCV001830055 RCV003469483
NM_001384125.1(BLTP1):c.3323+1G>A	SNV Germline	Chr4:122230212	Likely pathogenic	Severe hydrocephalus Clubfoot Arthrogryposis multiplex congenita	Criteria Provided Single Submitter	CA3066103	rs_775292946	1 SubmittersRCV001257375
NM_001164508.2(NEB):c.20033G>A (p.Arg6678His)	SNV Germline	Chr2:151549652	Conflicting classifications of pathogenicity	Nemaline myopathy 2 Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA348786576	rs_1487589344	4 SubmittersRCV001279751 RCV002480915 RCV003365298
NM_001164508.2(NEB):c.1544A>G (p.Gln515Arg)	SNV Germline	Chr2:151696662	Conflicting classifications of pathogenicity	Nemaline myopathy 2 Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1911545	rs_368150737	6 SubmittersRCV001317075 RCV002493656 RCV003132405 RCV004034411
NM_001164508.2(NEB):c.9580C>T (p.Gln3194Ter)	SNV Germline	Chr2:151631181	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Nemaline myopathy 2 Nemaline myopathy	Criteria Provided Multiple Submitters No Conflicts	CA348799770	rs_2098659971	4 SubmittersRCV001907888 RCV005014731 RCV005253913
NM_001164508.2(NEB):c.20132G>A (p.Arg6711Gln)	SNV Germline	Chr2:151548333	Conflicting classifications of pathogenicity	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Nemaline myopathy 2 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1907430	rs_781250495	5 SubmittersRCV001337749 RCV002504528 RCV003130477 RCV005443327
NM_001164508.2(NEB):c.25390C>A (p.Pro8464Thr)	SNV Germline	Chr2:151489985	Conflicting classifications of pathogenicity	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Conflicting Classifications	CA1905727	rs_376984481	3 SubmittersRCV001374092 RCV004815490
NM_001164508.2(NEB):c.18472-1G>C	SNV Germline	Chr2:151563931	Likely pathogenic	Nemaline myopathy 2 Nemaline myopathy Arthrogryposis multiplex congenita 6 Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Multiple Submitters No Conflicts	CA348800471	rs_1203257517	5 SubmittersRCV001377790 RCV002307737 RCV003473906 RCV002504630
NM_001164508.2(NEB):c.12330+5G>A	SNV Germline	Chr2:151609804	Likely pathogenic	Nemaline myopathy 2 Nemaline myopathy Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA1908541	rs_763163879	3 SubmittersRCV001378886 RCV005253825 RCV003469637
NM_001164508.2(NEB):c.10144-2A>G	SNV Germline	Chr2:151627207	Conflicting classifications of pathogenicity	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Nemaline myopathy	Criteria Provided Conflicting Classifications	CA348793739	rs_1435980710	3 SubmittersRCV001377109 RCV003469622 RCV005253818
NM_001164508.2(NEB):c.4611+1G>A	SNV Germline	Chr2:151669026	Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Multiple Submitters No Conflicts	CA348814909	rs_1233792020	2 SubmittersRCV001376875 RCV005023118
NM_001164508.2(NEB):c.4507-1G>A	SNV Germline	Chr2:151669132	Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Multiple Submitters No Conflicts	CA348815170	rs_2154185810	2 SubmittersRCV001377628 RCV002499776
NM_001164508.2(NEB):c.2836-2A>G	SNV Germline	Chr2:151682771	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Condition: not provided Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348821755	rs_1208297049	4 SubmittersRCV001379441 RCV001780296 RCV003462962
NM_001164508.2(NEB):c.928-1G>A	SNV Germline	Chr2:151709764	Pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348786465	rs_1162553327	2 SubmittersRCV001379432 RCV003469639
NM_001164508.2(NEB):c.613-1G>A	SNV Germline	Chr2:151723487	Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348791703	rs_767693366	2 SubmittersRCV001378539 RCV003473910
NM_001164508.2(NEB):c.19156G>T (p.Glu6386Ter)	SNV Germline	Chr2:151561054	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Nemaline myopathy Arthrogryposis multiplex congenita 6 Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348794687	rs_2153702280	4 SubmittersRCV001383444 RCV002282537 RCV003469696 RCV005023139
NM_001164508.2(NEB):c.13173T>A (p.Tyr4391Ter)	SNV Germline	Chr2:151603659	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348772208	rs_2153930733	2 SubmittersRCV001381646 RCV003473934
NM_001164508.2(NEB):c.13099G>T (p.Gly4367Ter)	SNV Germline	Chr2:151603733	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348772521	rs_1278785558	2 SubmittersRCV001383589 RCV003473946
NM_001164508.2(NEB):c.12996G>A (p.Trp4332Ter)	SNV Germline	Chr2:151604623	Pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348772927	rs_2153939368	2 SubmittersRCV001386832 RCV003469724
NM_001164508.2(NEB):c.8803C>T (p.Gln2935Ter)	SNV Germline	Chr2:151639943	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Nemaline myopathy Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348809233	rs_1351747266	3 SubmittersRCV001387965 RCV005253836 RCV004570966
NM_001164508.2(NEB):c.3601A>T (p.Lys1201Ter)	SNV Germline	Chr2:151677738	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Nemaline myopathy	Criteria Provided Multiple Submitters No Conflicts	CA1910865	rs_748453057	3 SubmittersRCV001389858 RCV003473993 RCV005253841
NM_001164508.2(NEB):c.2212-1G>A	SNV Germline	Chr2:151690826	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348823515	rs_2149103521	2 SubmittersRCV001389495 RCV003463030
NM_001164508.2(NEB):c.18786C>G (p.Tyr6262Ter)	SNV Germline	Chr2:151562716	Pathogenic	Arthrogryposis multiplex congenita 6	No Assertion Criteria Provided	CA348797980	rs_374874999	1 SubmittersRCV001449899
NM_001164508.2(NEB):c.19102-1G>T	SNV Germline	Chr2:151561109	Likely pathogenic	Arthrogryposis multiplex congenita 6 Nemaline myopathy	Criteria Provided Single Submitter	CA348795125	rs_2153702473	2 SubmittersRCV001449901 RCV005253847
NM_001164508.2(NEB):c.11719C>T (p.Gln3907Ter)	SNV Germline	Chr2:151612272	Pathogenic/Likely pathogenic	Condition: not provided Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Multiple Submitters No Conflicts	CA1908691	rs_377182240	3 SubmittersRCV001508086 RCV003470847 RCV002564229
NM_001164508.2(NEB):c.8425C>T (p.Arg2809Ter)	SNV Germline	Chr2:151640615	Pathogenic/Likely pathogenic	Condition: not provided Arthrogryposis multiplex congenita 6 Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Multiple Submitters No Conflicts	CA1909582	rs_762881892	3 SubmittersRCV001589777 RCV003474012 RCV002501944
NM_139284.3(LGI4):c.961G>A (p.Glu321Lys)	SNV Germline	Chr19:35126608	Likely pathogenic	Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect	No Assertion Criteria Provided	CA405306412	rs_2065139570	1 SubmittersRCV001844373
NM_001164508.2(NEB):c.16704+1G>A	SNV Germline	Chr2:151579337	Conflicting classifications of pathogenicity	Nemaline myopathy 2 Condition: not provided Nemaline myopathy Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Conflicting Classifications	CA348750316	rs_1227806763	5 SubmittersRCV001730067 RCV002511098 RCV003323920 RCV005014623
NM_001164508.2(NEB):c.24946C>T (p.Arg8316Ter)	SNV Germline	Chr2:151492209	Pathogenic/Likely pathogenic	Condition: not provided Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Multiple Submitters No Conflicts	CA1905861	rs_758327681	3 SubmittersRCV001784725 RCV003470907 RCV001885165
NM_001164508.2(NEB):c.612+1G>A	SNV Germline	Chr2:151724259	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA348791792	rs_1202331107	3 SubmittersRCV003514523 RCV005014659 RCV001784728
NM_139284.3(LGI4):c.61A>T (p.Arg21Ter)	SNV Germline	Chr19:35134620	Conflicting classifications of pathogenicity	Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA9373472	rs_140614229	5 SubmittersRCV001782382 RCV002541202 RCV002541201
NM_001164508.2(NEB):c.19836+1G>A	SNV Germline	Chr2:151552671	Pathogenic/Likely pathogenic	Arthrogryposis multiplex congenita 6 Nemaline myopathy 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA348787499	rs_1446930968	4 SubmittersRCV003470913 RCV001868865 RCV001782508
NM_182961.4(SYNE1):c.25717A>T (p.Lys8573Ter)	SNV Germline	Chr6:152135175	Likely pathogenic	Arthrogryposis multiplex congenita 3, myogenic type	Criteria Provided Single Submitter	CA366078625	rs_1562922141	1 SubmittersRCV001813905
NM_001164508.2(NEB):c.7345C>T (p.Gln2449Ter)	SNV Germline	Chr2:151650262	Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Multiple Submitters No Conflicts	CA348788072	rs_2154134234	2 SubmittersRCV001823584 RCV002489890
NM_001164508.2(NEB):c.25181C>A (p.Ser8394Ter)	SNV Germline	Chr2:151490488	Pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348771135	rs_2055484249	2 SubmittersRCV001919308 RCV003471062
NM_001164508.2(NEB):c.19635C>A (p.Tyr6545Ter)	SNV Germline	Chr2:151553494	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348790285	rs_1335300113	2 SubmittersRCV001905783 RCV003475144
NM_001164508.2(NEB):c.1570-1G>C	SNV Germline	Chr2:151695683	Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348825051	rs_1390328608	2 SubmittersRCV001991876 RCV004571934
NM_001164508.2(NEB):c.5309T>A (p.Leu1770Ter)	SNV Germline	Chr2:151664793	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348811441	rs_2154175437	3 SubmittersRCV001946731 RCV004571728
NM_001164508.2(NEB):c.4748C>T (p.Ala1583Val)	SNV Germline	Chr2:151666373	Conflicting classifications of pathogenicity	Nemaline myopathy 2 Inborn genetic diseases Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Condition: not provided	Criteria Provided Conflicting Classifications	CA1910537	rs_761956085	4 SubmittersRCV001905904 RCV004953286 RCV005397110 RCV003458102
NM_001164508.2(NEB):c.1470+1G>C	SNV Germline	Chr2:151697147	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Multiple Submitters No Conflicts	CA348825281	rs_1220787593	2 SubmittersRCV001995275 RCV005025555
NM_001164508.2(NEB):c.294+1G>A	SNV Germline	Chr2:151727690	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Multiple Submitters No Conflicts	CA1911960	rs_759956258	4 SubmittersRCV001992569 RCV005025482
NM_001164508.2(NEB):c.25266C>A (p.Tyr8422Ter)	SNV Germline	Chr2:151490403	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348770960	rs_1433028646	2 SubmittersRCV001949648 RCV003471192
NM_001164508.2(NEB):c.3996C>G (p.Tyr1332Ter)	SNV Germline	Chr2:151672672	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Multiple Submitters No Conflicts	CA348817178	rs_1559093497	2 SubmittersRCV001994822 RCV005016937
NM_001164508.2(NEB):c.21313-2A>T	SNV Germline	Chr2:151533548	Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348772003	rs_1212081578	2 SubmittersRCV002038269 RCV004571962
NM_001164508.2(NEB):c.25330C>T (p.Gln8444Ter)	SNV Germline	Chr2:151490045	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Nemaline myopathy	Criteria Provided Multiple Submitters No Conflicts	CA1905739	rs_778104284	3 SubmittersRCV001960729 RCV003475221 RCV005253969
NM_001164508.2(NEB):c.25129C>T (p.Arg8377Ter)	SNV Germline	Chr2:151491704	Pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Condition: not provided Nemaline myopathy	Criteria Provided Multiple Submitters No Conflicts	CA1905813	rs_777232352	5 SubmittersRCV001870159 RCV003475120 RCV002511103 RCV005253907
NM_001164508.2(NEB):c.23016+1G>A	SNV Germline	Chr2:151514817	Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Multiple Submitters No Conflicts	CA57618706	rs_111833078	2 SubmittersRCV001979522 RCV005016970
NM_001164508.2(NEB):c.5763+1G>A	SNV Germline	Chr2:151663547	Likely pathogenic	Nemaline myopathy 2 Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348807013	rs_2154172204	2 SubmittersRCV002037618 RCV005023280
NM_001164508.2(NEB):c.4842C>G (p.Tyr1614Ter)	SNV Germline	Chr2:151666279	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348813722	rs_2154179061	2 SubmittersRCV001913326 RCV003475154
NM_001164508.2(NEB):c.19294C>T (p.Gln6432Ter)	SNV Germline	Chr2:151560612	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348793753	rs_2153700128	2 SubmittersRCV001913107 RCV003471025
NM_001164508.2(NEB):c.22375-1G>A	SNV Germline	Chr2:151524416	Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Nemaline myopathy	Criteria Provided Multiple Submitters No Conflicts	CA348764911	rs_949331605	4 SubmittersRCV002025272 RCV003471226 RCV005017008 RCV005253999
NM_001164508.2(NEB):c.5343+5G>A	SNV Germline	Chr2:151664754	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Nemaline myopathy Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA2573133252	rs_2154175371	5 SubmittersRCV001956264 RCV002507704 RCV004587274 RCV004571745
NM_001164508.2(NEB):c.295-2A>G	SNV Germline	Chr2:151725562	Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Nemaline myopathy	Criteria Provided Multiple Submitters No Conflicts	CA348794045	rs_1428300892	4 SubmittersRCV001992292 RCV003475280 RCV005017043 RCV005254008
NM_001164508.2(NEB):c.19653G>A (p.Trp6551Ter)	SNV Germline	Chr2:151553476	Pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348790169	rs_2153657682	2 SubmittersRCV001987212 RCV003471084
NM_182961.4(SYNE1):c.24600C>T (p.Phe8200=)	SNV Germline	Chr6:152149519	Conflicting classifications of pathogenicity	Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Condition: not provided Autosomal recessive ataxia, Beauce type Arthrogryposis multiplex congenita 3, myogenic type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4053140	rs_370421580	4 SubmittersRCV002114824 RCV003434439 RCV002508088
NM_002470.4(MYH3):c.5555C>T (p.Thr1852Met)	SNV Germline	Chr17:10630099	Conflicting classifications of pathogenicity	Arthrogryposis multiplex congenita Condition: not provided	Criteria Provided Conflicting Classifications	CA8391895	rs_539272823	2 SubmittersRCV002269802 RCV003560907
NM_182961.4(SYNE1):c.18955C>T (p.Gln6319Ter)	SNV Germline	Chr6:152262049	Pathogenic	Arthrogryposis multiplex congenita 3, myogenic type	Criteria Provided Single Submitter	CA366089743	rs_368468256	1 SubmittersRCV002285129
NM_182961.4(SYNE1):c.23283G>A (p.Trp7761Ter)	SNV Germline	Chr6:152189270	Pathogenic	Arthrogryposis multiplex congenita 3, myogenic type	Criteria Provided Single Submitter	CA366093994	rs_2551032977	1 SubmittersRCV002285130
NM_001164508.2(NEB):c.6411C>A (p.Tyr2137Ter)	SNV Unknown	Chr2:151656237	Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348798831	rs_2099084606	2 SubmittersRCV002306961 RCV004572232
NM_001164508.2(NEB):c.2095C>T (p.Gln699Ter)	SNV Germline	Chr2:151692070	Likely pathogenic	Nemaline myopathy 2 Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348823809	rs_2099555780	2 SubmittersRCV002307015 RCV005019177
NM_001164508.2(NEB):c.23556G>A (p.Ser7852=)	SNV Germline	Chr2:151506909	Conflicting classifications of pathogenicity	Condition: not provided Arthrogryposis multiplex congenita 6 Nemaline myopathy 2 Nemaline myopathy 2	Criteria Provided Conflicting Classifications	CA1906331	rs_769787871	3 SubmittersRCV002462363 RCV005397432 RCV003103118
NM_001164508.2(NEB):c.24850G>A (p.Glu8284Lys)	SNV Germline	Chr2:151492410	Conflicting classifications of pathogenicity	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Conflicting Classifications	CA1905896	rs_376973987	2 SubmittersRCV003448477 RCV003078939
NM_001164508.2(NEB):c.17833G>A (p.Val5945Ile)	SNV Germline	Chr2:151568082	Conflicting classifications of pathogenicity	Nemaline myopathy 2 Condition: not provided Inborn genetic diseases Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Conflicting Classifications	CA1908097	rs_79562044	4 SubmittersRCV002637537 RCV004725558 RCV004961135 RCV005399139
NM_001164508.2(NEB):c.2079C>A (p.Cys693Ter)	SNV Germline	Chr2:151692086	Likely pathogenic	Nemaline myopathy Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348823842	rs_2552267817	3 SubmittersRCV002510267 RCV002571593 RCV003465777
NM_001164508.2(NEB):c.23127+2T>A	SNV Germline	Chr2:151514316	Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA57618337	rs_112610938	2 SubmittersRCV002569913 RCV003475393
NM_001164508.2(NEB):c.23650-2A>T	SNV Germline	Chr2:151505572	Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348783503	rs_113925788	2 SubmittersRCV002581418 RCV003465787
NM_001164508.2(NEB):c.22272+1G>A	SNV Germline	Chr2:151525162	Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA1906727	rs_765866533	2 SubmittersRCV002594750 RCV003465796
NM_001164508.2(NEB):c.7546C>T (p.Arg2516Ter)	SNV Germline	Chr2:151644566	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348783516	rs_1248414885	2 SubmittersRCV002634728 RCV003465799
NM_001164508.2(NEB):c.12162G>A (p.Trp4054Ter)	SNV Germline	Chr2:151609977	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Nemaline myopathy Arthrogryposis multiplex congenita 6 Congenital myopathy	Criteria Provided Multiple Submitters No Conflicts	CA348777384	rs_2097887468	4 SubmittersRCV002705678 RCV005254127 RCV004571212 RCV005626683
NM_001164508.2(NEB):c.24301-1G>T	SNV Germline	Chr2:151497034	Likely pathogenic	Nemaline myopathy 2 Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348778666	rs_2551843345	2 SubmittersRCV002818982 RCV005019407
NM_001164508.2(NEB):c.22375-1G>C	SNV Germline	Chr2:151524416	Likely pathogenic	Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Multiple Submitters No Conflicts	CA57624776	rs_949331605	2 SubmittersRCV003475440 RCV002861794
NM_001164508.2(NEB):c.2658T>G (p.Tyr886Ter)	SNV Germline	Chr2:151684955	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Multiple Submitters No Conflicts	CA348822453	rs_2552265386	2 SubmittersRCV002894848 RCV005027998
NM_001164508.2(NEB):c.7982G>A (p.Trp2661Ter)	SNV Germline	Chr2:151643328	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348813915	rs_2552247008	2 SubmittersRCV003017975 RCV005028113
NM_001164508.2(NEB):c.10916G>A (p.Trp3639Ter)	SNV Germline	Chr2:151618435	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348786535	rs_2552232114	2 SubmittersRCV003020002 RCV005019573
NM_001164508.2(NEB):c.17756G>A (p.Trp5919Ter)	SNV Germline	Chr2:151568159	Pathogenic/Likely pathogenic	Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Multiple Submitters No Conflicts	CA348804790	rs_2552194237	2 SubmittersRCV003475478 RCV003047388
NM_139284.3(LGI4):c.312C>A (p.Tyr104Ter)	SNV Germline	Chr19:35133695	Likely pathogenic	Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect	Criteria Provided Single Submitter	CA405314801	rs_2513330090	1 SubmittersRCV003146992
NM_000113.3(TOR1A):c.844C>T (p.Arg282Ter)	SNV Germline	Chr9:129814127	Likely pathogenic	Arthrogryposis multiplex congenita 5	Criteria Provided Multiple Submitters No Conflicts	CA5278524	rs_753220814	2 SubmittersRCV003155900
NM_020654.5(SENP7):c.1474C>T (p.Gln492Ter)	SNV Germline	Chr3:101364836	Likely pathogenic	arthrogryposis multiplex congenita with neutropenia and early respiratory failure	Criteria Provided Single Submitter	CA353840644	rs_777487611	1 SubmittersRCV003226605
NM_001164508.2(NEB):c.9102+1G>C	SNV Germline	Chr2:151636226	Likely pathogenic	Nemaline myopathy Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA57660925	rs_143644938	2 SubmittersRCV005254754 RCV003228233
NM_001164508.2(NEB):c.10170G>A (p.Trp3390Ter)	SNV Germline	Chr2:151627179	Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348793559	rs_1560619891	2 SubmittersRCV003229530 RCV003475548
NM_182961.4(SYNE1):c.8861C>A (p.Ser2954Ter)	SNV Germline	Chr6:152381154	Likely pathogenic	Arthrogryposis multiplex congenita 3, myogenic type	Criteria Provided Single Submitter	CA366144181	rs_145819043	1 SubmittersRCV003340971
NM_001164508.2(NEB):c.6496-1G>A	SNV Unknown	Chr2:151656024	Pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter	CA348798296	rs_2552252715	1 SubmittersRCV003471402
NM_001164508.2(NEB):c.528G>A (p.Trp176Ter)	SNV Unknown	Chr2:151724344	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter	CA348792277	rs_2552279432	1 SubmittersRCV003471403
NM_001164508.2(NEB):c.23452-1G>A	SNV Unknown	Chr2:151507014	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter	CA348784899	rs_2552010360	1 SubmittersRCV003471404
NM_001164508.2(NEB):c.23836-1G>A	SNV Germline	Chr2:151502886	Likely pathogenic	Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Multiple Submitters No Conflicts	CA348781969	rs_2551936300	2 SubmittersRCV003471406 RCV003629278
NM_001164508.2(NEB):c.25405-1G>A	SNV Unknown	Chr2:151485934	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter	CA348770169	rs_1553508368	1 SubmittersRCV003476527
NM_001164508.2(NEB):c.10898G>A (p.Trp3633Ter)	SNV Unknown	Chr2:151618453	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter	CA348786657	rs_2552232124	1 SubmittersRCV003471408
NM_001164508.2(NEB):c.1057G>T (p.Glu353Ter)	SNV Unknown	Chr2:151706976	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter	CA348826265	rs_2552273413	1 SubmittersRCV003476528
NM_001164508.2(NEB):c.23355C>G (p.Tyr7785Ter)	SNV Unknown	Chr2:151508101	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter	CA348785601	rs_1575514028	1 SubmittersRCV003476529
NM_001164508.2(NEB):c.843T>G (p.Tyr281Ter)	SNV Unknown	Chr2:151710518	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter	CA348787020	rs_2552275070	1 SubmittersRCV003471411
NM_001164508.2(NEB):c.9441G>A (p.Trp3147Ter)	SNV Unknown	Chr2:151631320	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter	CA348801358	rs_2552238380	1 SubmittersRCV003471413
NM_001164508.2(NEB):c.20578-1G>C	SNV Unknown	Chr2:151541552	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter	CA348779120	rs_2552160214	1 SubmittersRCV003476531
NM_001164508.2(NEB):c.21630+2T>C	SNV Unknown	Chr2:151530992	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter	CA348770134	rs_2552139054	1 SubmittersRCV003471414
NM_001164508.2(NEB):c.22009C>T (p.Gln7337Ter)	SNV Unknown	Chr2:151526199	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter	CA348766826	rs_2552117623	1 SubmittersRCV003471415
NM_001164508.2(NEB):c.24579+1G>C	SNV Unknown	Chr2:151494160	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter	CA348776584	rs_2058584112	1 SubmittersRCV003476532
NM_001164508.2(NEB):c.16252C>T (p.Gln5418Ter)	SNV Unknown	Chr2:151581515	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter	CA348754109	rs_2552208262	1 SubmittersRCV003471418
NM_001164508.2(NEB):c.1365+1G>A	SNV Unknown	Chr2:151697349	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter	CA348825540	rs_1379418184	1 SubmittersRCV003471419
NM_001164508.2(NEB):c.11911-2A>G	SNV Unknown	Chr2:151610625	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter	CA348778332	rs_2552227879	1 SubmittersRCV003476535
NM_001164508.2(NEB):c.25404+1G>A	SNV Unknown	Chr2:151489970	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter	CA348770667	rs_2551643451	1 SubmittersRCV003471421
NM_001164508.2(NEB):c.11665G>T (p.Glu3889Ter)	SNV Unknown	Chr2:151612326	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter	CA348780464	rs_1318105962	1 SubmittersRCV003476538
NM_001164508.2(NEB):c.14794C>T (p.Gln4932Ter)	SNV Unknown	Chr2:151592066	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter	CA348762478	rs_2552216787	1 SubmittersRCV003471423
NM_001164508.2(NEB):c.12220C>T (p.Gln4074Ter)	SNV Germline	Chr2:151609919	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348777111	rs_2552227195	2 SubmittersRCV003629280 RCV003471425
NM_001164508.2(NEB):c.17737-1G>A	SNV Unknown	Chr2:151568179	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter	CA348804838	rs_2552194255	1 SubmittersRCV003471427
NM_001164508.2(NEB):c.1921A>T (p.Lys641Ter)	SNV Unknown	Chr2:151692338	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter	CA348824212	rs_1445629270	1 SubmittersRCV003471428
NM_001164508.2(NEB):c.11289+1G>A	SNV Unknown	Chr2:151616001	Pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter	CA348783593	rs_1553901249	1 SubmittersRCV003471429
NM_001164508.2(NEB):c.8516G>A (p.Trp2839Ter)	SNV Unknown	Chr2:151640524	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter	CA1909563	rs_772959616	1 SubmittersRCV003471430
NM_001164508.2(NEB):c.3390T>G (p.Tyr1130Ter)	SNV Germline	Chr2:151678053	Pathogenic/Likely pathogenic	Arthrogryposis multiplex congenita 6 Nemaline myopathy Nemaline myopathy 2	Criteria Provided Multiple Submitters No Conflicts	CA1910918	rs_767079113	3 SubmittersRCV003471432 RCV005254794 RCV003514645
NM_001164508.2(NEB):c.25151-2A>G	SNV Unknown	Chr2:151490520	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter	CA348771236	rs_2551672017	1 SubmittersRCV003476544
NM_001164508.2(NEB):c.5907T>G (p.Tyr1969Ter)	SNV Unknown	Chr2:151662198	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter	CA348805752	rs_2552255512	1 SubmittersRCV003471435
NM_001164508.2(NEB):c.1258A>T (p.Lys420Ter)	SNV Unknown	Chr2:151697457	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter	CA348825789	rs_200298261	1 SubmittersRCV003476545
NM_001164508.2(NEB):c.16756C>T (p.Gln5586Ter)	SNV Unknown	Chr2:151576303	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter	CA348810884	rs_2552199770	1 SubmittersRCV003476546
NM_001164508.2(NEB):c.8890-2A>G	SNV Unknown	Chr2:151639386	Pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter	CA348807848	rs_2552242957	1 SubmittersRCV003471436
NM_001164508.2(NEB):c.1871T>A (p.Leu624Ter)	SNV Germline	Chr2:151694348	Pathogenic/Likely pathogenic	Arthrogryposis multiplex congenita 6 Arthrogryposis multiplex congenita 6 Nemaline myopathy 2 Nemaline myopathy	Criteria Provided Multiple Submitters No Conflicts	CA348824340	rs_2552268543	3 SubmittersRCV003476547 RCV005021974 RCV005419630
NM_001164508.2(NEB):c.23347-2A>G	SNV Germline	Chr2:151508111	Likely pathogenic	Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Multiple Submitters No Conflicts	CA348785659	rs_2552036488	2 SubmittersRCV003471439 RCV003779061
NM_001164508.2(NEB):c.25404+1G>T	SNV Unknown	Chr2:151489970	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter	CA348770665	rs_2551643451	1 SubmittersRCV003476551
NM_001164508.2(NEB):c.10560+1G>C	SNV Unknown	Chr2:151620918	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter	CA348789070	rs_1553915731	1 SubmittersRCV003476554
NM_001164508.2(NEB):c.22051-2A>C	SNV Unknown	Chr2:151526070	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter	CA348766468	rs_2552116988	1 SubmittersRCV003476556
NM_001164508.2(NEB):c.7093G>T (p.Gly2365Ter)	SNV Germline	Chr2:151650708	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348789957	rs_2552249907	2 SubmittersRCV003629281 RCV003476557
NM_001164508.2(NEB):c.12853C>T (p.Gln4285Ter)	SNV Unknown	Chr2:151604766	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter	CA348773649	rs_2552224168	1 SubmittersRCV003476561
NM_001164508.2(NEB):c.14741G>A (p.Trp4914Ter)	SNV Unknown	Chr2:151592119	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter	CA348762599	rs_1326281375	1 SubmittersRCV003476562
NM_001164508.2(NEB):c.17362C>T (p.Gln5788Ter)	SNV Unknown	Chr2:151570149	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter	CA348807565	rs_2552195829	1 SubmittersRCV003476564
NM_001164508.2(NEB):c.6634C>T (p.Gln2212Ter)	SNV Unknown	Chr2:151655885	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter	CA348797001	rs_2552252628	1 SubmittersRCV003471450
NM_001164508.2(NEB):c.2178T>G (p.Tyr726Ter)	SNV Unknown	Chr2:151691897	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter	CA348823599	rs_2552267736	1 SubmittersRCV003476565
NM_001164508.2(NEB):c.12808C>T (p.Gln4270Ter)	SNV Unknown	Chr2:151604811	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter	CA348773834	rs_1057524648	1 SubmittersRCV003476566
NM_001164508.2(NEB):c.22695+1G>A	SNV Unknown	Chr2:151518964	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter	CA348760130	rs_2552090974	1 SubmittersRCV003471454
NM_001164508.2(NEB):c.936C>G (p.Tyr312Ter)	SNV Unknown	Chr2:151709755	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter	CA348786393	rs_2552274637	1 SubmittersRCV003476571
NM_001164508.2(NEB):c.10059C>A (p.Tyr3353Ter)	SNV Unknown	Chr2:151627607	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter	CA348794730	rs_768102065	1 SubmittersRCV003471457
NM_001164508.2(NEB):c.23149G>T (p.Glu7717Ter)	SNV Unknown	Chr2:151513672	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter	CA348751853	rs_766321668	1 SubmittersRCV003471459
NM_001164508.2(NEB):c.20551C>T (p.Gln6851Ter)	SNV Unknown	Chr2:151545914	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter	CA348779900	rs_2552171912	1 SubmittersRCV003471462
NM_001164508.2(NEB):c.1036-1G>A	SNV Unknown	Chr2:151706998	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter	CA348826321	rs_2552273429	1 SubmittersRCV003471463
NM_001164508.2(NEB):c.24579+1G>A	SNV Unknown	Chr2:151494160	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter	CA348776581	rs_2058584112	1 SubmittersRCV003471464
NM_001164508.2(NEB):c.10477G>T (p.Glu3493Ter)	SNV Unknown	Chr2:151621002	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter	CA348789415	rs_1200480325	1 SubmittersRCV003476574
NM_001164508.2(NEB):c.17457G>A (p.Trp5819Ter)	SNV Unknown	Chr2:151569346	Pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter	CA348806123	rs_2552195317	1 SubmittersRCV003476575
NM_001164508.2(NEB):c.5451+1G>A	SNV Unknown	Chr2:151664500	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter	CA348810060	rs_2552256921	1 SubmittersRCV003471466
NM_001164508.2(NEB):c.13252C>T (p.Gln4418Ter)	SNV Germline	Chr2:151603580	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348771876	rs_2552222439	2 SubmittersRCV004796812 RCV003471468
NM_001164508.2(NEB):c.22891C>T (p.Gln7631Ter)	SNV Unknown	Chr2:151516473	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter	CA348755539	rs_2552085287	1 SubmittersRCV003471470
NM_001164508.2(NEB):c.17456G>A (p.Trp5819Ter)	SNV Unknown	Chr2:151569347	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter	CA348806130	rs_2096546315	1 SubmittersRCV003463111
NM_001164508.2(NEB):c.1069G>T (p.Gly357Ter)	SNV Unknown	Chr2:151706964	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter	CA348826235	rs_2552273407	1 SubmittersRCV003471471
NM_001164508.2(NEB):c.403-2A>G	SNV Germline	Chr2:151724963	Likely pathogenic	Arthrogryposis multiplex congenita 6 Arthrogryposis multiplex congenita 6 Nemaline myopathy 2 Nemaline myopathy 2	Criteria Provided Multiple Submitters No Conflicts	CA348792874	rs_2552279789	3 SubmittersRCV003471474 RCV005021977 RCV003629284
NM_001164508.2(NEB):c.22906-1G>C	SNV Unknown	Chr2:151514929	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter	CA348754956	rs_2552081312	1 SubmittersRCV003471477
NM_001164508.2(NEB):c.14871T>A (p.Tyr4957Ter)	SNV Unknown	Chr2:151591411	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter	CA348762286	rs_1453402449	1 SubmittersRCV003471484
NM_001164508.2(NEB):c.21220G>T (p.Glu7074Ter)	SNV Germline	Chr2:151535783	Pathogenic/Likely pathogenic	Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Multiple Submitters No Conflicts	CA348773155	rs_1266187397	2 SubmittersRCV003463117 RCV003514647
NM_001164508.2(NEB):c.4048C>T (p.Gln1350Ter)	SNV Unknown	Chr2:151672620	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter	CA348817058	rs_1559092256	1 SubmittersRCV003463119
NM_001164508.2(NEB):c.1280T>A (p.Leu427Ter)	SNV Unknown	Chr2:151697435	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter	CA348825734	rs_2552270108	1 SubmittersRCV003463122
NM_001164508.2(NEB):c.7227+1G>A	SNV Germline	Chr2:151650573	Likely pathogenic	Arthrogryposis multiplex congenita 6 Nemaline myopathy	Criteria Provided Multiple Submitters No Conflicts	CA348789036	rs_1459939417	2 SubmittersRCV003463124 RCV005254796
NM_001164508.2(NEB):c.3541A>T (p.Lys1181Ter)	SNV Unknown	Chr2:151677902	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter	CA348818882	rs_749655119	1 SubmittersRCV003463127
NM_001164508.2(NEB):c.4300-1G>C	SNV Germline	Chr2:151671230	Likely pathogenic	Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Multiple Submitters No Conflicts	CA348816146	rs_1331062755	2 SubmittersRCV003463128 RCV003779063
NM_001164508.2(NEB):c.3042+2T>G	SNV Unknown	Chr2:151680728	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter	CA348820974	rs_2552263977	1 SubmittersRCV003463130
NM_001164508.2(NEB):c.3184A>T (p.Lys1062Ter)	SNV Unknown	Chr2:151679792	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter	CA348820242	rs_192117840	1 SubmittersRCV003463133
NM_001164508.2(NEB):c.22711A>T (p.Lys7571Ter)	SNV Germline	Chr2:151518407	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA1906552	rs_748990736	2 SubmittersRCV003628845 RCV005030213
NM_182961.4(SYNE1):c.19158A>C (p.Gly6386=)	SNV Germline	Chr6:152255693	Conflicting classifications of pathogenicity	Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Arthrogryposis multiplex congenita 3, myogenic type Autosomal recessive ataxia, Beauce type	Criteria Provided Conflicting Classifications	CA4054746	rs_748717377	2 SubmittersRCV003807076 RCV005040527
NM_001164508.2(NEB):c.4719+2T>A	SNV Germline	Chr2:151667802	Likely pathogenic	Nemaline myopathy 2 Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348814170	rs_1553501889	2 SubmittersRCV003825593 RCV005014993
NM_182961.4(SYNE1):c.25006C>T (p.Arg8336Ter)	SNV Germline	Chr6:152143736	Pathogenic/Likely pathogenic	Autosomal recessive ataxia, Beauce type Arthrogryposis multiplex congenita 3, myogenic type	Criteria Provided Multiple Submitters No Conflicts	CA4052977	rs_760678661	2 SubmittersRCV003985000 RCV005358082
NM_001164508.2(NEB):c.10592T>A (p.Leu3531Ter)	SNV Unknown	Chr2:151619731	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter		rs_2098336133	1 SubmittersRCV004576323
NM_001164508.2(NEB):c.2173G>T (p.Glu725Ter)	SNV Unknown	Chr2:151691902	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter		rs_2552267739	1 SubmittersRCV004576325
NM_001164508.2(NEB):c.20683-2A>C	SNV Unknown	Chr2:151540803	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter		rs_2552157271	1 SubmittersRCV004576327
NM_001164508.2(NEB):c.24190C>T (p.Gln8064Ter)	SNV Unknown	Chr2:151498277	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter		rs_2551871389	1 SubmittersRCV004576328
NM_001164508.2(NEB):c.20929A>T (p.Lys6977Ter)	SNV Unknown	Chr2:151538208	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter		rs_2552151159	1 SubmittersRCV004576329
NM_001164508.2(NEB):c.5971-1G>A	SNV Unknown	Chr2:151659170	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter		rs_2099118735	1 SubmittersRCV004576330
NM_001164508.2(NEB):c.16204A>T (p.Lys5402Ter)	SNV Unknown	Chr2:151581563	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter		rs_2552208321	1 SubmittersRCV004576331
NM_001164508.2(NEB):c.402+1G>A	SNV Unknown	Chr2:151725452	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter		rs_2552279972	1 SubmittersRCV004576332
NM_001164508.2(NEB):c.2772C>G (p.Tyr924Ter)	SNV Unknown	Chr2:151684841	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter		rs_1466946196	1 SubmittersRCV004576333
NM_001164508.2(NEB):c.21007A>T (p.Lys7003Ter)	SNV Unknown	Chr2:151537967	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter		rs_2552150723	1 SubmittersRCV004576335
NM_001164508.2(NEB):c.10683C>A (p.Tyr3561Ter)	SNV Unknown	Chr2:151619640	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter		rs_2098334069	1 SubmittersRCV004576341
NM_001164508.2(NEB):c.10452+1G>C	SNV Unknown	Chr2:151625533	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter		rs_111863059	1 SubmittersRCV004576344
NM_001164508.2(NEB):c.11628G>A (p.Trp3876Ter)	SNV Germline	Chr2:151612363	Pathogenic/Likely pathogenic	Nemaline myopathy Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts		rs_201719702	2 SubmittersRCV005254909 RCV004576347
NM_001164508.2(NEB):c.21639C>A (p.Tyr7213Ter)	SNV Unknown	Chr2:151529306	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter		rs_1416012783	1 SubmittersRCV004576351
NM_001164508.2(NEB):c.24748C>T (p.Gln8250Ter)	SNV Unknown	Chr2:151493370	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter		rs_2551726011	1 SubmittersRCV004576352
NM_001164508.2(NEB):c.17013+1G>A	SNV Unknown	Chr2:151575694	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter		rs_1474860245	1 SubmittersRCV004576353
NM_001164508.2(NEB):c.18262-1G>T	SNV Unknown	Chr2:151565606	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter		rs_2096326746	1 SubmittersRCV004576355
NM_001164508.2(NEB):c.24589A>T (p.Lys8197Ter)	SNV Unknown	Chr2:151493858	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter		rs_1464359123	1 SubmittersRCV004576358
NM_001164508.2(NEB):c.22209C>G (p.Tyr7403Ter)	SNV Unknown	Chr2:151525226	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter		rs_2552113620	1 SubmittersRCV004576360
NM_001164508.2(NEB):c.16929G>A (p.Trp5643Ter)	SNV Unknown	Chr2:151575779	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter		rs_2096805941	1 SubmittersRCV004576361
NM_001164508.2(NEB):c.6612C>A (p.Tyr2204Ter)	SNV Unknown	Chr2:151655907	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter		rs_1281603759	1 SubmittersRCV004576362
NM_001164508.2(NEB):c.18588C>G (p.Tyr6196Ter)	SNV Unknown	Chr2:151563711	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter		rs_774109260	1 SubmittersRCV004576366
NM_001164508.2(NEB):c.22909G>T (p.Glu7637Ter)	SNV Germline	Chr2:151514925	Conflicting classifications of pathogenicity	Nemaline myopathy Arthrogryposis multiplex congenita 6	Criteria Provided Conflicting Classifications		rs_1209865784	2 SubmittersRCV005254911 RCV004576367
NM_001164508.2(NEB):c.7236T>A (p.Tyr2412Ter)	SNV Unknown	Chr2:151650371	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter		rs_1301275168	1 SubmittersRCV004576368
NM_001164508.2(NEB):c.23533G>T (p.Glu7845Ter)	SNV Unknown	Chr2:151506932	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter		rs_1216517249	1 SubmittersRCV004576370
NM_001164508.2(NEB):c.5061G>A (p.Trp1687Ter)	SNV Unknown	Chr2:151665510	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter		rs_765737421	1 SubmittersRCV004576371
NM_001164508.2(NEB):c.17749G>T (p.Glu5917Ter)	SNV Unknown	Chr2:151568166	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter		rs_2552194244	1 SubmittersRCV004574325
NM_001164508.2(NEB):c.9974G>A (p.Trp3325Ter)	SNV Germline	Chr2:151627692	Pathogenic/Likely pathogenic	Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Multiple Submitters No Conflicts		rs_2552236697	2 SubmittersRCV004574327 RCV005059554
NM_001164508.2(NEB):c.11939C>A (p.Ser3980Ter)	SNV Unknown	Chr2:151610595	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter		rs_2552227856	1 SubmittersRCV004574331
NM_001164508.2(NEB):c.17737-2A>T	SNV Unknown	Chr2:151568180	Pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter		rs_2552194256	1 SubmittersRCV004574333
NM_001164508.2(NEB):c.4366G>T (p.Glu1456Ter)	SNV Germline	Chr2:151671163	Pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter			1 SubmittersRCV004788626
NM_182961.4(SYNE1):c.3925C>T (p.Arg1309Ter)	SNV Germline	Chr6:152442158	Pathogenic	Emery-Dreifuss muscular dystrophy 4, autosomal dominant Arthrogryposis multiplex congenita 3, myogenic type Autosomal recessive ataxia, Beauce type	Criteria Provided Single Submitter			1 SubmittersRCV004795561
NM_182961.4(SYNE1):c.7642C>T (p.Gln2548Ter)	SNV Germline	Chr6:152395586	Likely pathogenic	Emery-Dreifuss muscular dystrophy 4, autosomal dominant Arthrogryposis multiplex congenita 3, myogenic type Autosomal recessive ataxia, Beauce type	Criteria Provided Single Submitter			1 SubmittersRCV004795562
NM_182961.4(SYNE1):c.15438+2T>C	SNV Germline	Chr6:152325956	Likely pathogenic	Autosomal recessive ataxia, Beauce type Arthrogryposis multiplex congenita 3, myogenic type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Single Submitter			1 SubmittersRCV004795906
NM_000113.3(TOR1A):c.486T>A (p.Cys162Ter)	SNV Germline	Chr9:129818879	Likely pathogenic	Arthrogryposis multiplex congenita 5	Criteria Provided Single Submitter			1 SubmittersRCV004821435
NM_001164508.2(NEB):c.24579G>T (p.Ser8193=)	SNV Germline	Chr2:151494161	Likely pathogenic	Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Single Submitter			1 SubmittersRCV005028821
NM_001164508.2(NEB):c.24358G>T (p.Glu8120Ter)	SNV Germline	Chr2:151496976	Likely pathogenic	Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Single Submitter			1 SubmittersRCV005028824
NM_001164508.2(NEB):c.23128-1G>A	SNV Germline	Chr2:151513694	Likely pathogenic	Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Single Submitter			1 SubmittersRCV005028827
NM_001164508.2(NEB):c.22869C>A (p.Tyr7623Ter)	SNV Germline	Chr2:151516495	Pathogenic	Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Single Submitter			1 SubmittersRCV005016091
NM_001164508.2(NEB):c.22821T>G (p.Tyr7607Ter)	SNV Germline	Chr2:151516543	Likely pathogenic	Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Single Submitter			1 SubmittersRCV005028828
NM_001164508.2(NEB):c.22162-1G>C	SNV Germline	Chr2:151525274	Likely pathogenic	Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Single Submitter			1 SubmittersRCV005028830
NM_001164508.2(NEB):c.21631-2A>G	SNV Germline	Chr2:151529316	Likely pathogenic	Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Single Submitter			1 SubmittersRCV005028831
NM_001164508.2(NEB):c.21313-2A>G	SNV Germline	Chr2:151533548	Likely pathogenic	Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Single Submitter			1 SubmittersRCV005016094
NM_001164508.2(NEB):c.20674C>T (p.Gln6892Ter)	SNV Germline	Chr2:151541455	Likely pathogenic	Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Single Submitter			1 SubmittersRCV005016095
NM_001164508.2(NEB):c.20050-2A>T	SNV Germline	Chr2:151548417	Likely pathogenic	Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Single Submitter			1 SubmittersRCV005016097
NM_001164508.2(NEB):c.18892-1G>T	SNV Germline	Chr2:151562215	Likely pathogenic	Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Single Submitter			1 SubmittersRCV005028834
NM_001164508.2(NEB):c.18579+1G>T	SNV Germline	Chr2:151563822	Likely pathogenic	Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Single Submitter			1 SubmittersRCV005016099
NM_001164508.2(NEB):c.18157-2A>C	SNV Germline	Chr2:151565822	Likely pathogenic	Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Single Submitter			1 SubmittersRCV005016101
NM_001164508.2(NEB):c.17160C>A (p.Tyr5720Ter)	SNV Germline	Chr2:151570351	Likely pathogenic	Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Single Submitter			1 SubmittersRCV005016104
NM_001164508.2(NEB):c.16705-1G>C	SNV Germline	Chr2:151576355	Likely pathogenic	Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Single Submitter			1 SubmittersRCV005016105
NM_001164508.2(NEB):c.11601+2T>C	SNV Germline	Chr2:151614274	Likely pathogenic	Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Single Submitter			1 SubmittersRCV005016107
NM_001164508.2(NEB):c.7170T>A (p.Cys2390Ter)	SNV Germline	Chr2:151650631	Likely pathogenic	Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Single Submitter			1 SubmittersRCV005016109
NM_001164508.2(NEB):c.6916-2A>C	SNV Germline	Chr2:151650887	Likely pathogenic	Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Single Submitter			1 SubmittersRCV005016110
NM_001164508.2(NEB):c.6616C>T (p.Gln2206Ter)	SNV Germline	Chr2:151655903	Likely pathogenic	Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Single Submitter			1 SubmittersRCV005028839
NM_001164508.2(NEB):c.6568G>T (p.Glu2190Ter)	SNV Germline	Chr2:151655951	Likely pathogenic	Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Single Submitter			1 SubmittersRCV005016112
NM_001164508.2(NEB):c.6487C>T (p.Gln2163Ter)	SNV Germline	Chr2:151656161	Likely pathogenic	Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Single Submitter			1 SubmittersRCV005016113
NM_001164508.2(NEB):c.5764-1G>A	SNV Germline	Chr2:151662342	Likely pathogenic	Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Single Submitter			1 SubmittersRCV005028842
NM_001164508.2(NEB):c.5200C>T (p.Gln1734Ter)	SNV Germline	Chr2:151665371	Likely pathogenic	Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Single Submitter			1 SubmittersRCV005016117
NM_001164508.2(NEB):c.3879+1G>C	SNV Germline	Chr2:151675286	Likely pathogenic	Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Single Submitter			1 SubmittersRCV005016120
NM_001164508.2(NEB):c.2637+2T>G	SNV Germline	Chr2:151687417	Likely pathogenic	Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Single Submitter			1 SubmittersRCV005028845
NM_001164508.2(NEB):c.2056G>T (p.Glu686Ter)	SNV Germline	Chr2:151692109	Likely pathogenic	Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Single Submitter			1 SubmittersRCV005016123
NM_001164508.2(NEB):c.927+1G>C	SNV Germline	Chr2:151710433	Likely pathogenic	Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Single Submitter			1 SubmittersRCV005028846
NM_001164508.2(NEB):c.835G>T (p.Glu279Ter)	SNV Germline	Chr2:151710526	Likely pathogenic	Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Single Submitter			1 SubmittersRCV005028847
NM_001164508.2(NEB):c.11290-1G>A	SNV Germline	Chr2:151614588	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter			1 SubmittersRCV005207591
NM_001164508.2(NEB):c.24673-2A>G	SNV Germline	Chr2:151493447	Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter			1 SubmittersRCV005365736
NM_182961.4(SYNE1):c.2806C>T (p.Arg936Ter)	SNV Germline	Chr6:152455512	Likely pathogenic	Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Arthrogryposis multiplex congenita 3, myogenic type	Criteria Provided Single Submitter			1 SubmittersRCV005356852
NM_182961.4(SYNE1):c.24719G>A (p.Trp8240Ter)	SNV Germline	Chr6:152148302	Likely pathogenic	Arthrogryposis multiplex congenita 3, myogenic type	Criteria Provided Single Submitter			1 SubmittersRCV005410354

NM_015559.3(SETBP1):c.2612T>C (p.Ile871Thr)

SNV
Germline

Chr18:44951952

Pathogenic/Likely pathogenic

Schinzel-Giedion syndrome
Condition: not provided
Intellectual disability, autosomal dominant 29
Fetal akinesia deformation sequence 1
Arthrogryposis multiplex congenita
SETBP1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA114715

rs_267607038

12 SubmittersRCV000001086 RCV000255245 RCV001007919 RCV000855501 RCV004532268

NM_182961.4(SYNE1):c.15918-12A>G

SNV
Germline

Chr6:152321898

Pathogenic

Autosomal recessive ataxia, Beauce type
Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
SYNE1-related disorder
Arthrogryposis multiplex congenita 3, myogenic type
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Multiple Submitters
No Conflicts

CA252215

rs_606231134

8 SubmittersRCV000002416 RCV000423940 RCV000763141 RCV003330382 RCV004734495 RCV005031382

NM_182961.4(SYNE1):c.8695A>T (p.Arg2899Ter)

SNV
Germline

Chr6:152381320

Pathogenic

Autosomal recessive ataxia, Beauce type
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Condition: not provided
Arthrogryposis multiplex congenita 3, myogenic type
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Multiple Submitters
No Conflicts

CA252216

rs_119103243

6 SubmittersRCV000002417 RCV005222660 RCV001288046 RCV005041971

NM_182961.4(SYNE1):c.25381G>A (p.Glu8461Lys)

SNV
Germline

Chr6:152140027

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Condition: not provided
not specified
Autosomal recessive ataxia, Beauce type
Intellectual disability
Autosomal recessive ataxia, Beauce type
Arthrogryposis multiplex congenita 3, myogenic type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA115488

rs_119103248

12 SubmittersRCV000002424 RCV000535163 RCV000713651 RCV001002110 RCV000987800 RCV001252121 RCV005394106

NM_182961.4(SYNE1):c.24313-2A>G

SNV
Germline

Chr6:152151692

Pathogenic

Arthrogryposis multiplex congenita 3, myogenic type

No Assertion Criteria Provided

CA366086814

rs_1586285494

1 SubmittersRCV000002425

NM_001164508.2(NEB):c.1152+1G>A

SNV
Germline

Chr2:151706880

Pathogenic

Nemaline myopathy 2
Condition: not provided
Arthrogryposis multiplex congenita 6
Nemaline myopathy
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA222737

rs_398124167

9 SubmittersRCV000174538 RCV000790650 RCV001449897 RCV001174709 RCV002477236

NM_001164508.2(NEB):c.3567+1G>A

SNV
Germline

Chr2:151677875

Pathogenic/Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA153986

rs_587780399

4 SubmittersRCV001260937 RCV004567031

NM_001378183.1(PIEZO2):c.8396G>A (p.Arg2799His)

SNV
Germline

Chr18:10671729

Pathogenic

Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome
Gordon syndrome
Inborn genetic diseases
Arthrogryposis multiplex congenita
Fetal akinesia deformation sequence 1
Gordon syndrome
Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome
Condition: not provided
Arthrogryposis, distal, with impaired proprioception and touch

Criteria Provided
Multiple Submitters
No Conflicts

CA090890

rs_587777450

15 SubmittersRCV000224805 RCV000125478 RCV000623552 RCV000855472 RCV003224865 RCV001091982 RCV003147342

NM_000540.3(RYR1):c.9579C>G (p.Cys3193Trp)

SNV
Germline

Chr19:38516111

Conflicting classifications of pathogenicity

Condition: not provided
Fetal akinesia deformation sequence 1
Arthrogryposis multiplex congenita
Central core myopathy
RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA024994

rs_587784379

7 SubmittersRCV000147451 RCV000855485 RCV001004921 RCV001036190 RCV003998165

NM_000540.3(RYR1):c.4405C>T (p.Arg1469Trp)

SNV
Germline

Chr19:38477821

Conflicting classifications of pathogenicity

Congenital myopathy
not specified
RYR1-related disorder
Condition: not provided
Fetal akinesia deformation sequence 1
Arthrogryposis multiplex congenita
Congenital myopathy with fiber type disproportion
See cases
Neuromuscular disease
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome
Congenital multicore myopathy with external ophthalmoplegia

Criteria Provided
Conflicting Classifications

CA024441

rs_200546266

18 SubmittersRCV000148819 RCV000501380 RCV000534955 RCV000520385 RCV000855482 RCV001198313 RCV004797783 RCV004017422 RCV003998172 RCV004767091 RCV005406848

NM_001164508.2(NEB):c.21076C>T (p.Arg7026Ter)

SNV
Germline

Chr2:151537898

Pathogenic/Likely pathogenic

Non-immune hydrops fetalis
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6
Nemaline myopathy 2
Nemaline myopathy
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA199704

rs_769345284

7 SubmittersRCV000170577 RCV000664706 RCV002478527 RCV000781653 RCV003468850

NM_000335.5(SCN5A):c.5210C>T (p.Ser1737Phe)

SNV
Germline

Chr3:38551159

Conflicting classifications of pathogenicity

Condition: not provided
Fetal akinesia deformation sequence 1
Arthrogryposis multiplex congenita
Cardiac arrhythmia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA018989

rs_786205271

6 SubmittersRCV000171697 RCV000855502 RCV001842522 RCV005480327

NM_198569.3(ADGRG6):c.19C>T (p.Arg7Ter)

SNV
Germline

Chr6:142309560

Pathogenic

Arthrogryposis multiplex congenita
Lethal congenital contracture syndrome 9

Criteria Provided
Single Submitter

CA200210

rs_749355583

3 SubmittersRCV000172977 RCV000186598

NM_198569.3(ADGRG6):c.2306T>A (p.Val769Glu)

SNV
Germline

Chr6:142408187

Pathogenic/Likely pathogenic

Arthrogryposis multiplex congenita
Lethal congenital contracture syndrome 9

Criteria Provided
Multiple Submitters
No Conflicts

CA200214

rs_793888525

3 SubmittersRCV000172979 RCV000186600

NM_182961.4(SYNE1):c.14263C>T (p.Leu4755Phe)

SNV
Germline

Chr6:152330422

Conflicting classifications of pathogenicity

not specified
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Condition: not provided
Autosomal recessive ataxia, Beauce type
SYNE1-related disorder
Arthrogryposis multiplex congenita 3, myogenic type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

CA247458

rs_41301343

11 SubmittersRCV000180075 RCV000316351 RCV000533703 RCV000710240 RCV000714610 RCV004537501 RCV005031716

NM_001164508.2(NEB):c.539A>G (p.Lys180Arg)

SNV
Germline

Chr2:151724333

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Conflicting Classifications

CA247643

rs_200719359

9 SubmittersRCV000245711 RCV000514389 RCV001085642 RCV001578687

NM_001164508.2(NEB):c.18862G>A (p.Val6288Ile)

SNV
Germline

Chr2:151562640

Conflicting classifications of pathogenicity

Nemaline myopathy 2
Condition: not provided
Inborn genetic diseases
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Conflicting Classifications

CA248313

rs_201886728

8 SubmittersRCV000540531 RCV000724505 RCV002516829 RCV002492794

NM_001164508.2(NEB):c.7291G>A (p.Glu2431Lys)

SNV
Germline

Chr2:151650316

Conflicting classifications of pathogenicity

Nemaline myopathy
not specified
Arthrogryposis multiplex congenita 6
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6
Nemaline myopathy 2

Criteria Provided
Conflicting Classifications

CA16616822

rs_767302772

5 SubmittersRCV005252833 RCV004689691 RCV003475836 RCV003514331 RCV005025395

NM_001164508.2(NEB):c.19944G>A (p.Ser6648=)

SNV
Germline

Chr2:151551738

Pathogenic

Condition: not provided
Inborn genetic diseases
Nemaline myopathy 2
Nemaline myopathy
Arthrogryposis multiplex congenita 6
NEB-related disorder
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Reviewed By Expert Panel

CA1907493

rs_201553266

17 SubmittersRCV000224886 RCV000622763 RCV000541914 RCV000780536 RCV001836641 RCV004547569 RCV004796118

NM_001164508.2(NEB):c.12018+1G>A

SNV
Germline

Chr2:151610515

Pathogenic/Likely pathogenic

Condition: not provided
Nemaline myopathy 2
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6
Nemaline myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA1908612

rs_762278237

8 SubmittersRCV000254952 RCV000593350 RCV005016658 RCV005238809

NM_018136.5(ASPM):c.3082+1G>C

SNV
Germline

Chr1:197125045

Pathogenic/Likely pathogenic

Condition: not provided
Fetal akinesia deformation sequence 1
Arthrogryposis multiplex congenita
Microcephaly 5, primary, autosomal recessive

Criteria Provided
Multiple Submitters
No Conflicts

CA10602744

rs_886041709

4 SubmittersRCV000294377 RCV000855492 RCV002503977

NM_001164508.2(NEB):c.11806-1G>A

SNV
Germline

Chr2:151610867

Pathogenic/Likely pathogenic

Condition: not provided
Nemaline myopathy 2
NEB-related disorder
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA10602804

rs_886041851

5 SubmittersRCV000277796 RCV001214721 RCV004737397 RCV004527372

NM_001164508.2(NEB):c.24114+1G>A

SNV
Germline

Chr2:151499297

Pathogenic/Likely pathogenic

Condition: not provided
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA1906151

rs_755239192

9 SubmittersRCV000387492 RCV000625834 RCV003469210 RCV002503971

NM_001164508.2(NEB):c.20654C>T (p.Ala6885Val)

SNV
Germline

Chr2:151541475

Conflicting classifications of pathogenicity

Condition: not provided
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6
Nemaline myopathy 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1907204

rs_202209668

9 SubmittersRCV000292919 RCV000535305 RCV002502095 RCV002518819

NM_001164508.2(NEB):c.10341G>A (p.Met3447Ile)

SNV
Germline

Chr2:151627008

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6
Nemaline myopathy 2
Inborn genetic diseases
NEB-related disorder

Criteria Provided
Conflicting Classifications

CA1909062

rs_370053963

12 SubmittersRCV000314743 RCV000724952 RCV001081955 RCV005396864 RCV002519098 RCV004547657

NM_182961.4(SYNE1):c.11218A>G (p.Thr3740Ala)

SNV
Germline

Chr6:152353298

Conflicting classifications of pathogenicity

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Arthrogryposis multiplex congenita 3, myogenic type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4056751

rs_144797744

7 SubmittersRCV000701706 RCV000286476 RCV000341441 RCV001535685 RCV000713581

NM_182961.4(SYNE1):c.16984C>T (p.Arg5662Cys)

SNV
Germline

Chr6:152310431

Conflicting classifications of pathogenicity

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Condition: not provided
Inborn genetic diseases
SYNE1-related disorder
Intellectual disability
Arthrogryposis multiplex congenita 3, myogenic type
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4055383

rs_145899734

15 SubmittersRCV000266512 RCV000321614 RCV000710244 RCV002518932 RCV004535321 RCV001252119 RCV001331537 RCV001362101

NM_182961.4(SYNE1):c.24577C>T (p.Arg8193Ter)

SNV
Germline

Chr6:152149542

Pathogenic

Condition: not provided
Arthrogryposis multiplex congenita 3, myogenic type

Criteria Provided
Multiple Submitters
No Conflicts

CA4053145

rs_760715690

5 SubmittersRCV000352027 RCV000787308

NM_003282.4(TNNI2):c.54G>C (p.Leu18=)

SNV
Germline

Chr11:1840441

Conflicting classifications of pathogenicity

Arthrogryposis multiplex congenita
not specified
Arthrogryposis multiplex congenita distal
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5815063

rs_181679318

4 SubmittersRCV000265562 RCV000307894 RCV000364828 RCV001705427

NM_001164508.2(NEB):c.294+2T>C

SNV
Germline

Chr2:151727689

Pathogenic/Likely pathogenic

Condition: not provided
Nemaline myopathy 2
Nemaline myopathy
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA1911959

rs_773952935

7 SubmittersRCV000414510 RCV000303625 RCV001192840 RCV003469243

NM_001164508.2(NEB):c.22429G>A (p.Gly7477Ser)

SNV
Germline

Chr2:151524361

Conflicting classifications of pathogenicity

Condition: not provided
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6
Nemaline myopathy 2

Criteria Provided
Conflicting Classifications

CA10606067

rs_764674361

5 SubmittersRCV000316633 RCV000660520 RCV005396897

NM_001164508.2(NEB):c.3211A>C (p.Ile1071Leu)

SNV
Germline

Chr2:151679765

Conflicting classifications of pathogenicity

Condition: not provided
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1910972

rs_35194393

10 SubmittersRCV000326103 RCV001130401 RCV001578688 RCV002522010

NM_001164508.2(NEB):c.1550A>G (p.Asn517Ser)

SNV
Germline

Chr2:151696656

Conflicting classifications of pathogenicity

Condition: not provided
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6
Nemaline myopathy 2

Criteria Provided
Conflicting Classifications

CA1911541

rs_199710125

5 SubmittersRCV000355760 RCV000691778 RCV002504024

NM_001164508.2(NEB):c.17897C>T (p.Pro5966Leu)

SNV
Germline

Chr2:151567427

Conflicting classifications of pathogenicity

Nemaline myopathy 2
Inborn genetic diseases
Condition: not provided
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Conflicting Classifications

CA1908071

rs_368912483

8 SubmittersRCV000281201 RCV000622600 RCV000595871 RCV005398453

NM_001164508.2(NEB):c.3986A>C (p.Asp1329Ala)

SNV
Germline

Chr2:151674478

Conflicting classifications of pathogenicity

Nemaline myopathy 2
Condition: not provided
Actin accumulation myopathy
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Conflicting Classifications

CA1910775

rs_115986826

9 SubmittersRCV000531206 RCV001705498 RCV003483605 RCV005018693

NM_001164508.2(NEB):c.1899A>T (p.Arg633Ser)

SNV
Germline

Chr2:151692360

Conflicting classifications of pathogenicity

Condition: not provided
Nemaline myopathy 2
NEB-related disorder
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Conflicting Classifications

CA1911395

rs_77826191

7 SubmittersRCV000494281 RCV001086153 RCV004549753 RCV005398456

NM_001164508.2(NEB):c.10583G>A (p.Arg3528His)

SNV
Germline

Chr2:151619740

Conflicting classifications of pathogenicity

Nemaline myopathy 2
Condition: not provided
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Conflicting Classifications

CA1908984

rs_199584268

7 SubmittersRCV000822266 RCV001753794 RCV002480174

NM_001164508.2(NEB):c.23127+2T>C

SNV
Germline

Chr2:151514316

Likely pathogenic

Arthrogryposis multiplex congenita 6
Nemaline myopathy 2

Criteria Provided
Multiple Submitters
No Conflicts

CA10612274

rs_112610938

3 SubmittersRCV003470318 RCV000701787

NM_001164508.2(NEB):c.25165C>T (p.Arg8389Trp)

SNV
Germline

Chr2:151490504

Conflicting classifications of pathogenicity

Nemaline myopathy 2
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1905791

rs_373551215

7 SubmittersRCV000536760 RCV005398451 RCV000521206

NM_001164508.2(NEB):c.20162T>C (p.Leu6721Pro)

SNV
Germline

Chr2:151547734

Conflicting classifications of pathogenicity

Nemaline myopathy 2
Condition: not provided
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Conflicting Classifications

CA1907400

rs_111517514

10 SubmittersRCV000691644 RCV001577784 RCV005398452

NM_001164508.2(NEB):c.17462G>A (p.Arg5821His)

SNV
Germline

Chr2:151569341

Conflicting classifications of pathogenicity

Nemaline myopathy 2
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1908205

rs_773239926

5 SubmittersRCV000795724 RCV002487462 RCV003129840

NM_001164508.2(NEB):c.9743A>G (p.Asn3248Ser)

SNV
Germline

Chr2:151629627

Conflicting classifications of pathogenicity

Nemaline myopathy 2
Condition: not provided
Inborn genetic diseases
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Conflicting Classifications

CA1909215

rs_139548702

7 SubmittersRCV000798629 RCV003129843 RCV003243088 RCV005398455

NM_001164508.2(NEB):c.4666C>T (p.Pro1556Ser)

SNV
Germline

Chr2:151667857

Conflicting classifications of pathogenicity

Nemaline myopathy 2
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1910565

rs_756692621

6 SubmittersRCV000688136 RCV002487463 RCV003133235 RCV005438889

NM_182961.4(SYNE1):c.13417G>A (p.Glu4473Lys)

SNV
Germline

Chr6:152331268

Conflicting classifications of pathogenicity

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Arthrogryposis multiplex congenita 3, myogenic type
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4056181

rs_554814659

3 SubmittersRCV000275716 RCV000314518 RCV004579543 RCV003137974

NM_182961.4(SYNE1):c.16831C>T (p.Arg5611Trp)

SNV
Germline

Chr6:152310753

Conflicting classifications of pathogenicity

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive myogenic arthrogryposis multiplex congenita
Condition: not provided
Inborn genetic diseases
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

CA4055423

rs_369292604

8 SubmittersRCV000785031 RCV000785032 RCV000785033 RCV000713609 RCV002520410 RCV001850885

NM_006757.4(TNNT3):c.68-14C>T

SNV
Germline

Chr11:1926681

Conflicting classifications of pathogenicity

Arthrogryposis multiplex congenita distal
Arthrogryposis multiplex congenita
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5816218

rs_202175253

2 SubmittersRCV000306102 RCV000353956 RCV002056186

NM_006757.4(TNNT3):c.107-6G>A

SNV
Germline

Chr11:1929804

Conflicting classifications of pathogenicity

Arthrogryposis multiplex congenita
Arthrogryposis multiplex congenita distal
Condition: not provided
TNNT3-related disorder

Criteria Provided
Conflicting Classifications

CA5816332

rs_200739738

4 SubmittersRCV000274334 RCV000357414 RCV000881418 RCV003920253

NM_006757.4(TNNT3):c.480+9C>T

SNV
Germline

Chr11:1934454

Conflicting classifications of pathogenicity

Arthrogryposis multiplex congenita
Arthrogryposis multiplex congenita distal
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5816487

rs_374137056

2 SubmittersRCV000285416 RCV000342706 RCV000960162

NM_006757.4(TNNT3):c.722+15C>T

SNV
Germline

Chr11:1937018

Conflicting classifications of pathogenicity

Arthrogryposis multiplex congenita distal
Arthrogryposis multiplex congenita
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5816641

rs_201336939

2 SubmittersRCV000327607 RCV000384456 RCV002056188

NM_006757.4(TNNT3):c.759C>T (p.Val253=)

SNV
Germline

Chr11:1938474

Conflicting classifications of pathogenicity

Arthrogryposis multiplex congenita distal
Arthrogryposis multiplex congenita
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5816664

rs_140388684

3 SubmittersRCV000286943 RCV000379080 RCV000883985

NM_003282.4(TNNI2):c.61G>A (p.Val21Met)

SNV
Germline

Chr11:1840531

Conflicting classifications of pathogenicity

Arthrogryposis multiplex congenita
Arthrogryposis multiplex congenita distal
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5815095

rs_200110633

5 SubmittersRCV000266804 RCV000317217 RCV000994540 RCV002522192

NM_003282.4(TNNI2):c.216C>T (p.Ile72=)

SNV
Germline

Chr11:1840848

Conflicting classifications of pathogenicity

Arthrogryposis multiplex congenita distal
Arthrogryposis multiplex congenita
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5815169

rs_777907501

2 SubmittersRCV000292625 RCV000352138 RCV001753765

NM_006757.4(TNNT3):c.417C>T (p.Asp139=)

SNV
Germline

Chr11:1934382

Conflicting classifications of pathogenicity

Arthrogryposis multiplex congenita
Arthrogryposis multiplex congenita distal
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5816475

rs_367932695

2 SubmittersRCV000290644 RCV000382694 RCV002056187

NM_006757.4(TNNT3):c.690G>A (p.Thr230=)

SNV
Germline

Chr11:1936971

Conflicting classifications of pathogenicity

Arthrogryposis multiplex congenita distal
Arthrogryposis multiplex congenita
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5816634

rs_753756081

2 SubmittersRCV000270354 RCV000362568 RCV002520713

NM_003282.4(TNNI2):c.387G>A (p.Ser129=)

SNV
Germline

Chr11:1841141

Conflicting classifications of pathogenicity

Arthrogryposis multiplex congenita distal
Arthrogryposis multiplex congenita
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5815256

rs_139399106

2 SubmittersRCV000343871 RCV000392125 RCV001697740

NM_006757.4(TNNT3):c.429G>A (p.Lys143=)

SNV
Germline

Chr11:1934394

Conflicting classifications of pathogenicity

Arthrogryposis multiplex congenita
Arthrogryposis multiplex congenita distal
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5816480

rs_184687090

2 SubmittersRCV000347825 RCV000399278 RCV000943408

NM_006757.4(TNNT3):c.*86C>T

SNV
Germline

Chr11:1938578

Conflicting classifications of pathogenicity

Distal arthrogryposis type 2B1
Arthrogryposis multiplex congenita
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5816692

rs_200540491

2 SubmittersRCV000351478 RCV000391778 RCV001653493

NM_001164508.2(NEB):c.8038C>T (p.Arg2680Ter)

SNV
Germline

Chr2:151643272

Pathogenic/Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA16040849

rs_1057516676

3 SubmittersRCV000409018 RCV003470330

NM_001164508.2(NEB):c.7228-1G>A

SNV
Germline

Chr2:151650380

Pathogenic/Likely pathogenic

Nemaline myopathy 2
Nemaline myopathy
Arthrogryposis multiplex congenita 6
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA16040851

rs_1057516996

6 SubmittersRCV000412054 RCV001420895 RCV003463800 RCV005027464

NM_001164508.2(NEB):c.3987+1G>A

SNV
Germline

Chr2:151674476

Pathogenic/Likely pathogenic

Nemaline myopathy 2
Nemaline myopathy
Condition: not provided
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA1910773

rs_780022652

7 SubmittersRCV000410029 RCV000781655 RCV001723970 RCV003470347

NM_001164508.2(NEB):c.2415+2T>C

SNV
Germline

Chr2:151688290

Likely pathogenic

Nemaline myopathy 2
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA16040855

rs_1057517399

3 SubmittersRCV000411510 RCV005027467 RCV004567890

NM_001164508.2(NEB):c.412C>T (p.Arg138Ter)

SNV
Germline

Chr2:151724952

Pathogenic

Nemaline myopathy 2
Condition: not provided
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA16040858

rs_1057517360

7 SubmittersRCV000411613 RCV001796023 RCV002488842 RCV004567889

NM_001164508.2(NEB):c.4720-2A>G

SNV
Germline

Chr2:151666403

Likely pathogenic

Condition: not provided
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA16042348

rs_1057518353

2 SubmittersRCV000413634 RCV004567900

NM_001164508.2(NEB):c.9046C>T (p.Arg3016Ter)

SNV
Germline

Chr2:151636283

Pathogenic/Likely pathogenic

Condition: not provided
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6
Nemaline myopathy
Arthrogryposis multiplex congenita 6
Nemaline myopathy 2

Criteria Provided
Multiple Submitters
No Conflicts

CA16042419

rs_1057517977

7 SubmittersRCV000413859 RCV000667230 RCV003470361 RCV004586700 RCV005027474

NM_001164508.2(NEB):c.23989C>T (p.Arg7997Ter)

SNV
Germline

Chr2:151501423

Conflicting classifications of pathogenicity

Condition: not provided
Progressive proximal muscle weakness
Limb pain
Muscular dystrophy
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6
NEB-related disorder
Nemaline myopathy

Criteria Provided
Conflicting Classifications

CA1906173

rs_549794342

21 SubmittersRCV000416049 RCV000414803 RCV002480270 RCV000576327 RCV003476003 RCV004551415 RCV003155176

NM_001164508.2(NEB):c.23742+2T>C

SNV
Germline

Chr2:151505476

Conflicting classifications of pathogenicity

Nemaline myopathy 2
not specified
Condition: not provided
Arthrogryposis multiplex congenita 6
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6
Nemaline myopathy

Criteria Provided
Conflicting Classifications

CA1906270

rs_545937015

11 SubmittersRCV000416472 RCV001195395 RCV001782898 RCV003476005 RCV005018715 RCV005252884

NM_001164508.2(NEB):c.20956G>C (p.Asp6986His)

SNV
Germline

Chr2:151538181

Conflicting classifications of pathogenicity

Condition: not provided
Nemaline myopathy 2
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6
NEB-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1907121

rs_150874422

7 SubmittersRCV000425742 RCV000550442 RCV002506082 RCV004551506 RCV004955486

NM_001164508.2(NEB):c.9619-2A>G

SNV
Germline

Chr2:151630821

Pathogenic/Likely pathogenic

Condition: not provided
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6
Nemaline myopathy 2
Nemaline myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA1909252

rs_375145370

9 SubmittersRCV000444827 RCV002480289 RCV000528659 RCV004782377

NM_001164508.2(NEB):c.16273C>T (p.Gln5425Ter)

SNV
Germline

Chr2:151581494

Likely pathogenic

Condition: not provided
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA16617243

rs_1064796311

2 SubmittersRCV000486583 RCV003470584

NM_139284.3(LGI4):c.793G>A (p.Ala265Thr)

SNV
Germline

Chr19:35126853

Pathogenic

Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect

No Assertion Criteria Provided

CA9373252

rs_779232987

1 SubmittersRCV000487489

NM_139284.3(LGI4):c.863G>A (p.Trp288Ter)

SNV
Germline

Chr19:35126706

Pathogenic

Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect

No Assertion Criteria Provided

CA16621544

rs_775997446

1 SubmittersRCV000487492

NM_139284.3(LGI4):c.793+5G>C

SNV
Germline

Chr19:35126848

Pathogenic

Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect

No Assertion Criteria Provided

CA16621545

rs_1064797093

1 SubmittersRCV000487486

NM_139284.3(LGI4):c.1301T>A (p.Val434Asp)

SNV
Germline

Chr19:35125506

Pathogenic

Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect

No Assertion Criteria Provided

CA16621546

rs_1064797094

1 SubmittersRCV000487490

NM_139284.3(LGI4):c.1299+5G>T

SNV
Germline

Chr19:35126265

Pathogenic

Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect

No Assertion Criteria Provided

CA16621547

rs_1064797095

1 SubmittersRCV000487493

NM_139284.3(LGI4):c.773G>C (p.Arg258Pro)

SNV
Germline

Chr19:35126873

Pathogenic

Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect

No Assertion Criteria Provided

CA9373257

rs_755500591

1 SubmittersRCV000487487

NM_000158.4(GBE1):c.1693C>T (p.Arg565Trp)

SNV
Germline

Chr3:81537021

Conflicting classifications of pathogenicity

Condition: not provided
Arthrogryposis multiplex congenita
Fetal akinesia deformation sequence 1
Adult polyglucosan body disease
Glycogen storage disease, type IV
not specified
Glycogen storage disease, type IV
Glycogen storage disease IV, classic hepatic

Criteria Provided
Conflicting Classifications

CA2499591

rs_552094593

7 SubmittersRCV000487962 RCV000855462 RCV001329659 RCV001829394 RCV003330722 RCV002528222

NM_001164508.2(NEB):c.21417+3A>G

SNV
Germline

Chr2:151533439

Conflicting classifications of pathogenicity

Condition: not provided
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6
NEB-related disorder
Nemaline myopathy
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Conflicting Classifications

CA1906977

rs_148950085

11 SubmittersRCV000493255 RCV001086213 RCV003470617 RCV004737563 RCV005407155 RCV004796202

NM_001164508.2(NEB):c.24588C>G (p.Tyr8196Ter)

SNV
Germline

Chr2:151493859

Pathogenic

Condition: not provided
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA1905979

rs_754272530

6 SubmittersRCV000498615 RCV000670685 RCV003470620

NM_000540.3(RYR1):c.10620C>G (p.Tyr3540Ter)

SNV
Germline

Chr19:38525496

Pathogenic

Arthrogryposis multiplex congenita

Criteria Provided
Single Submitter

CA405644022

rs_758247804

1 SubmittersRCV000499002

NM_001164508.2(NEB):c.25336C>T (p.Arg8446Ter)

SNV
Germline

Chr2:151490039

Pathogenic

Condition: not provided
Nemaline myopathy 2
Nemaline myopathy
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA1905735

rs_200731870

8 SubmittersRCV000520480 RCV000665375 RCV001174690 RCV003476221

NM_001164508.2(NEB):c.25183C>T (p.Arg8395Ter)

SNV
Germline

Chr2:151490486

Pathogenic/Likely pathogenic

Condition: not provided
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6
NEB-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA1905784

rs_747179265

6 SubmittersRCV000522200 RCV000763062 RCV004568671 RCV004553149

NM_001164508.2(NEB):c.19405C>T (p.Arg6469Ter)

SNV
Germline

Chr2:151554954

Pathogenic/Likely pathogenic

Condition: not provided
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA348792192

rs_1553740233

4 SubmittersRCV000523219 RCV000984199 RCV003476223

NM_001164508.2(NEB):c.11627G>A (p.Trp3876Ter)

SNV
Germline

Chr2:151612364

Pathogenic

Nemaline myopathy 2
Condition: not provided
Nemaline myopathy
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA1908708

rs_776569219

6 SubmittersRCV000529040 RCV000521697 RCV003993996 RCV003476222

NM_001164508.2(NEB):c.9047G>A (p.Arg3016Gln)

SNV
Germline

Chr2:151636282

Conflicting classifications of pathogenicity

Condition: not provided
Nemaline myopathy 2
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Conflicting Classifications

CA1909431

rs_373587647

6 SubmittersRCV000519197 RCV000556075 RCV005398756

NM_001164508.2(NEB):c.3255+1G>A

SNV
Germline

Chr2:151679720

Pathogenic

Condition: not provided
Nemaline myopathy 2
Nemaline myopathy
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA1910960

rs_375628303

11 SubmittersRCV000519006 RCV000536181 RCV001192838 RCV003470651

NM_181789.4(GLDN):c.1428C>A (p.Phe476Leu)

SNV
Germline

Chr15:51404526

Pathogenic/Likely pathogenic

Condition: not provided
Arthrogryposis multiplex congenita
Fetal akinesia deformation sequence 1
Lethal congenital contracture syndrome 11

Criteria Provided
Multiple Submitters
No Conflicts

CA7560758

rs_750803388

3 SubmittersRCV000524042 RCV000855464 RCV004594071

NM_001164508.2(NEB):c.24393+1G>A

SNV
Germline

Chr2:151496940

Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA1906073

rs_775631800

4 SubmittersRCV000540499 RCV003470750

NM_001164508.2(NEB):c.5939T>C (p.Leu1980Ser)

SNV
Germline

Chr2:151662166

Conflicting classifications of pathogenicity

Nemaline myopathy 2
Condition: not provided
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Conflicting Classifications

CA1910237

rs_375412223

7 SubmittersRCV000529425 RCV003129901 RCV002506339

NM_001164508.2(NEB):c.3007G>C (p.Val1003Leu)

SNV
Germline

Chr2:151680765

Conflicting classifications of pathogenicity

Nemaline myopathy 2
Condition: not provided
Arthrogryposis multiplex congenita 6
Nemaline myopathy 2

Criteria Provided
Conflicting Classifications

CA1911044

rs_149471462

4 SubmittersRCV000534614 RCV003133325 RCV005357587

NM_001164508.2(NEB):c.2920C>T (p.Arg974Ter)

SNV
Germline

Chr2:151682685

Pathogenic/Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6
Nemaline myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA348821398

rs_1553548666

4 SubmittersRCV000530974 RCV001449887 RCV004017670

NM_001164508.2(NEB):c.20158-6A>G

SNV
Germline

Chr2:151547744

Conflicting classifications of pathogenicity

not specified
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6
Nemaline myopathy

Criteria Provided
Conflicting Classifications

CA658683265

rs_1553715636

5 SubmittersRCV000579107 RCV001834828 RCV002250662 RCV005252970

NM_001164508.2(NEB):c.11164C>T (p.Arg3722Ter)

SNV
Germline

Chr2:151617381

Pathogenic/Likely pathogenic

Nemaline myopathy
Nemaline myopathy 2
Condition: not provided
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA57640117

rs_928945364

8 SubmittersRCV000590386 RCV000674606 RCV003129932 RCV003157724

NM_001164508.2(NEB):c.24454C>T (p.Arg8152Ter)

SNV
Germline

Chr2:151496308

Pathogenic/Likely pathogenic

Nemaline myopathy
Condition: not provided
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA16021311

rs_763364977

10 SubmittersRCV000586673 RCV001783093 RCV000763063 RCV002476276 RCV004568306

NM_001164508.2(NEB):c.24113C>A (p.Ser8038Ter)

SNV
Germline

Chr2:151499299

Pathogenic/Likely pathogenic

Nemaline myopathy
Nemaline myopathy 2
Condition: not provided
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA348779352

rs_1458048713

6 SubmittersRCV000588345 RCV000666431 RCV001591353 RCV003465324

NM_005055.5(RAPSN):c.272G>T (p.Arg91Leu)

SNV
Germline

Chr11:47448071

Conflicting classifications of pathogenicity

Condition: not provided
Fetal akinesia deformation sequence 1
Arthrogryposis multiplex congenita
Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 11
Fetal akinesia deformation sequence 2

Criteria Provided
Conflicting Classifications

CA5976768

rs_375218091

5 SubmittersRCV000591406 RCV000855473 RCV001867917 RCV003465332

NM_004560.4(ROR2):c.808A>G (p.Ile270Val)

SNV
Germline

Chr9:91733251

Conflicting classifications of pathogenicity

Condition: not provided
Fetal akinesia deformation sequence 1
Arthrogryposis multiplex congenita

Criteria Provided
Conflicting Classifications

CA5120886

rs_145631389

4 SubmittersRCV000597894 RCV000855499

NM_001164508.2(NEB):c.10872+1G>T

SNV
Germline

Chr2:151619450

Pathogenic

Nemaline myopathy
Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

CA348787368

rs_1336053002

2 SubmittersRCV005252996 RCV000611131

NM_001164508.2(NEB):c.24041T>C (p.Val8014Ala)

SNV
Germline

Chr2:151499371

Conflicting classifications of pathogenicity

Nemaline myopathy 2
Condition: not provided
NEB-related disorder
Arthrogryposis multiplex congenita 6
Nemaline myopathy 2

Criteria Provided
Conflicting Classifications

CA1906159

rs_200269437

6 SubmittersRCV000690819 RCV003133394 RCV004737885 RCV005392165

NM_001164508.2(NEB):c.24579G>A (p.Ser8193=)

SNV
Germline

Chr2:151494161

Pathogenic/Likely pathogenic

Inborn genetic diseases
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6
Nemaline myopathy 2
Condition: not provided
Nemaline myopathy
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA1905995

rs_202048855

9 SubmittersRCV000623853 RCV000820159 RCV002506517 RCV003153763 RCV004586841 RCV003465358

NM_001164508.2(NEB):c.5344-1G>C

SNV
Germline

Chr2:151664609

Likely pathogenic

Inborn genetic diseases
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA348811156

rs_1197561990

3 SubmittersRCV000624651 RCV000674712 RCV003465359

NM_004826.4(ECEL1):c.494T>C (p.Leu165Pro)

SNV
Germline

Chr2:232486160

Conflicting classifications of pathogenicity

Inborn genetic diseases
Arthrogryposis multiplex congenita
Distal arthrogryposis type 5D
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2167588

rs_765305996

5 SubmittersRCV000623280 RCV000787365 RCV001809702 RCV001756022

NM_001031711.3(ERGIC1):c.293T>A (p.Val98Glu)

SNV
Germline

Chr5:172914756

Pathogenic

Arthrogryposis multiplex congenita 2, neurogenic type

No Assertion Criteria Provided

CA362152610

rs_1554112524

1 SubmittersRCV000626312

NM_001164508.2(NEB):c.7309C>T (p.Arg2437Trp)

SNV
Germline

Chr2:151650298

Conflicting classifications of pathogenicity

Nemaline myopathy 2
Condition: not provided
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Conflicting Classifications

CA1909881

rs_375164626

8 SubmittersRCV000641337 RCV001662690 RCV002507092

NM_001164508.2(NEB):c.1493A>G (p.Asp498Gly)

SNV
Germline

Chr2:151696713

Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6
Condition: not provided
not specified
Nemaline myopathy

Reviewed By Expert Panel

CA348825220

rs_1255744452

8 SubmittersRCV000641321 RCV003472031 RCV003148813 RCV003488752 RCV005253019

NM_182961.4(SYNE1):c.25223A>G (p.His8408Arg)

SNV
Germline

Chr6:152141226

Conflicting classifications of pathogenicity

Condition: not provided
SYNE1-related disorder
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Arthrogryposis multiplex congenita 3, myogenic type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4052897

rs_375476506

6 SubmittersRCV000713648 RCV004544876 RCV000647632 RCV005046832

NM_139284.3(LGI4):c.1153C>T (p.Gln385Ter)

SNV
Germline

Chr19:35126416

Pathogenic

Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect

No Assertion Criteria Provided

CA405304273

rs_1366269616

1 SubmittersRCV000664223

NM_139284.3(LGI4):c.200T>G (p.Leu67Arg)

SNV
Germline

Chr19:35134075

Likely pathogenic

Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect

No Assertion Criteria Provided

CA405315145

rs_1555734932

1 SubmittersRCV000664224

NM_001164508.2(NEB):c.25297+1G>A

SNV
Germline

Chr2:151490371

Likely pathogenic

Nemaline myopathy 2
Nemaline myopathy
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA348770893

rs_113525641

5 SubmittersRCV000667580 RCV001584536 RCV002507159 RCV004568511

NM_001164508.2(NEB):c.19101+5G>A

SNV
Germline

Chr2:151561203

Pathogenic/Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6
Nemaline myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA1907770

rs_374929094

7 SubmittersRCV000673418 RCV003465527 RCV004586872

NM_001164508.2(NEB):c.18865C>T (p.Arg6289Ter)

SNV
Germline

Chr2:151562637

Pathogenic/Likely pathogenic

Nemaline myopathy 2
NEB-related disorder
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA1907832

rs_539819851

5 SubmittersRCV000668686 RCV003233799 RCV003472105

NM_001164508.2(NEB):c.25057+1G>A

SNV
Germline

Chr2:151492097

Conflicting classifications of pathogenicity

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6
Nemaline myopathy

Criteria Provided
Conflicting Classifications

CA348773126

rs_1191429915

4 SubmittersRCV000667178 RCV003465466 RCV005253037

NM_001164508.2(NEB):c.24300+1G>A

SNV
Germline

Chr2:151497625

Pathogenic/Likely pathogenic

Nemaline myopathy 2
Condition: not provided
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA348778705

rs_1366853918

4 SubmittersRCV000666960 RCV001784242 RCV004568503

NM_001164508.2(NEB):c.24220G>T (p.Glu8074Ter)

SNV
Germline

Chr2:151497706

Pathogenic/Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA348779052

rs_1218073575

4 SubmittersRCV000668980 RCV004568519

NM_001164508.2(NEB):c.11076+1G>A

SNV
Germline

Chr2:151618274

Conflicting classifications of pathogenicity

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6
Nemaline myopathy

Criteria Provided
Conflicting Classifications

CA348785559

rs_1460365350

3 SubmittersRCV000667252 RCV003465471 RCV005253041

NM_001164508.2(NEB):c.24212T>A (p.Leu8071Ter)

SNV
Germline

Chr2:151497714

Pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6
Nemaline myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA57668896

rs_756726488

4 SubmittersRCV000667053 RCV004568506 RCV005253033

NM_001164508.2(NEB):c.9414+1G>T

SNV
Germline

Chr2:151633653

Pathogenic/Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA348802530

rs_1255445731

3 SubmittersRCV000671664 RCV003472140

NM_001164508.2(NEB):c.23451+1G>T

SNV
Germline

Chr2:151508004

Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA57676889

rs_1011425121

4 SubmittersRCV000674962 RCV003472177 RCV005027830

NM_001164508.2(NEB):c.23451+1G>C

SNV
Germline

Chr2:151508004

Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA348784998

rs_1011425121

3 SubmittersRCV000673508 RCV003472157

NM_001164508.2(NEB):c.9346G>T (p.Glu3116Ter)

SNV
Germline

Chr2:151633722

Likely pathogenic

Nemaline myopathy 2
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6
Nemaline myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA348802926

rs_193042896

3 SubmittersRCV000667092 RCV005019114 RCV005253034

NM_001164508.2(NEB):c.24022-1G>A

SNV
Germline

Chr2:151499391

Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA348779696

rs_1553561697

4 SubmittersRCV000668888 RCV005019130 RCV003465486

NM_001164508.2(NEB):c.23241+2T>A

SNV
Germline

Chr2:151513578

Likely pathogenic

Nemaline myopathy 2
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

CA348750841

rs_1553615846

2 SubmittersRCV000665797 RCV005019106

NM_001164508.2(NEB):c.22489C>T (p.Arg7497Ter)

SNV
Germline

Chr2:151519759

Pathogenic/Likely pathogenic

Nemaline myopathy 2
Nemaline myopathy
Condition: not provided
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA1906623

rs_760935667

10 SubmittersRCV000672682 RCV000781656 RCV001784275 RCV005027816 RCV003472148

NM_001164508.2(NEB):c.22800+1G>A

SNV
Germline

Chr2:151518317

Pathogenic/Likely pathogenic

Nemaline myopathy 2
Condition: not provided
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA348759026

rs_1302373559

4 SubmittersRCV000669212 RCV001784256 RCV003472112

NM_001164508.2(NEB):c.21736-2A>G

SNV
Germline

Chr2:151527587

Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA348769191

rs_1389892619

3 SubmittersRCV000664684 RCV003472067

NM_001164508.2(NEB):c.22591-1G>C

SNV
Germline

Chr2:151519070

Pathogenic/Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA1906588

rs_757157808

3 SubmittersRCV000665581 RCV003472071

NM_001164508.2(NEB):c.18981C>G (p.Tyr6327Ter)

SNV
Germline

Chr2:151562125

Pathogenic/Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

No Assertion Criteria Provided

CA348796638

rs_761964375

2 SubmittersRCV000673447 RCV001449900

NM_001164508.2(NEB):c.18891+1G>A

SNV
Germline

Chr2:151562610

Pathogenic/Likely pathogenic

Nemaline myopathy 2
Condition: not provided
Arthrogryposis multiplex congenita 6
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA348797233

rs_1443738549

8 SubmittersRCV000667258 RCV000731470 RCV003465472 RCV002493092

NM_001164508.2(NEB):c.9724-1G>A

SNV
Germline

Chr2:151629647

Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA348798509

rs_1553934586

3 SubmittersRCV000667250 RCV004568508

NM_001164508.2(NEB):c.9724-2A>G

SNV
Unknown

Chr2:151629648

Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

CA348798520

rs_1553934597

2 SubmittersRCV000666954 RCV004568502

NM_001164508.2(NEB):c.9414+1G>A

SNV
Germline

Chr2:151633653

Pathogenic/Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA348802536

rs_1255445731

3 SubmittersRCV000669140 RCV003459606

NM_001164508.2(NEB):c.2211+5G>A

SNV
Germline

Chr2:151691859

Conflicting classifications of pathogenicity

Nemaline myopathy 2
Condition: not provided
Nemaline myopathy
not specified
Arthrogryposis multiplex congenita 6

Criteria Provided
Conflicting Classifications

CA658823142

rs_797045736

7 SubmittersRCV000671466 RCV001784269 RCV005253054 RCV005418288 RCV003472138

NM_001164508.2(NEB):c.8889+1G>A

SNV
Germline

Chr2:151639856

Pathogenic/Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6
Nemaline myopathy 2

Criteria Provided
Multiple Submitters
No Conflicts

CA348809045

rs_1553963960

7 SubmittersRCV000671973 RCV005019144

NM_001164508.2(NEB):c.20131C>T (p.Arg6711Trp)

SNV
Germline

Chr2:151548334

Conflicting classifications of pathogenicity

Nemaline myopathy 2
not specified
Condition: not provided
Arthrogryposis multiplex congenita 6

Criteria Provided
Conflicting Classifications

CA1907431

rs_533233215

7 SubmittersRCV000670617 RCV002509500 RCV003129984 RCV003465501

NM_001164508.2(NEB):c.1674+2T>C

SNV
Germline

Chr2:151695576

Pathogenic/Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA348824801

rs_1553603437

4 SubmittersRCV000664673 RCV003472066

NM_001164508.2(NEB):c.18676C>T (p.Gln6226Ter)

SNV
Germline

Chr2:151563623

Pathogenic

Nemaline myopathy 2
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6
Nemaline myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA348798689

rs_1475648900

4 SubmittersRCV000673657 RCV002499187 RCV003226364

NM_001164508.2(NEB):c.20659C>T (p.Arg6887Ter)

SNV
Germline

Chr2:151541470

Pathogenic/Likely pathogenic

Nemaline myopathy 2
Nemaline myopathy
Inborn genetic diseases
Arthrogryposis multiplex congenita 6
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA1907202

rs_749452641

6 SubmittersRCV000674087 RCV001194218 RCV003243248 RCV003472164 RCV003325512

NM_001164508.2(NEB):c.613-1G>C

SNV
Germline

Chr2:151723487

Likely pathogenic

Nemaline myopathy 2
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA1911833

rs_767693366

3 SubmittersRCV000666879 RCV005019112

NM_001164508.2(NEB):c.11181+2T>C

SNV
Unknown

Chr2:151617362

Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

CA348784677

rs_1553904694

2 SubmittersRCV000673522 RCV004568555

NM_001164508.2(NEB):c.18808C>T (p.Arg6270Ter)

SNV
Germline

Chr2:151562694

Pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6
Nemaline myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA57656219

rs_754369875

5 SubmittersRCV000668497 RCV003472100 RCV005253048

NM_001164508.2(NEB):c.4506+1G>A

SNV
Germline

Chr2:151671022

Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA1910615

rs_112517981

3 SubmittersRCV000669059 RCV003472110

NM_001164508.2(NEB):c.11910+1G>A

SNV
Germline

Chr2:151610761

Likely pathogenic

Nemaline myopathy 2
Condition: not provided
Nemaline myopathy
Arthrogryposis multiplex congenita 6

Reviewed By Expert Panel

CA57635829

rs_774495973

7 SubmittersRCV000667256 RCV003133493 RCV005253043 RCV004568509

NM_001164508.2(NEB):c.37-1G>A

SNV
Germline

Chr2:151729657

Pathogenic/Likely pathogenic

Nemaline myopathy 2
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA348797091

rs_1428597732

4 SubmittersRCV000667927 RCV005019123 RCV003459591

NM_001164508.2(NEB):c.3879+1G>A

SNV
Germline

Chr2:151675286

Pathogenic/Likely pathogenic

Nemaline myopathy 2
Nemaline myopathy
Arthrogryposis multiplex congenita 6
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA1910808

rs_746999970

6 SubmittersRCV000670383 RCV002265844 RCV003465499 RCV003442015

NM_001164508.2(NEB):c.2943+1G>A

SNV
Germline

Chr2:151682661

Pathogenic

Nemaline myopathy 2
Nemaline myopathy
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA1911078

rs_113091511

4 SubmittersRCV000667067 RCV001255511 RCV003465461

NM_001164508.2(NEB):c.2416-1G>C

SNV
Germline

Chr2:151687734

Likely pathogenic

Nemaline myopathy 2
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA348823037

rs_1553565278

3 SubmittersRCV000672789 RCV005019149

NM_001164508.2(NEB):c.1570-2A>G

SNV
Germline

Chr2:151695684

Pathogenic/Likely pathogenic

Nemaline myopathy 2
Condition: not provided
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA348825053

rs_1553603958

4 SubmittersRCV000674550 RCV000729399 RCV004568566

NM_001164508.2(NEB):c.1569+1G>A

SNV
Germline

Chr2:151696636

Conflicting classifications of pathogenicity

Nemaline myopathy 2
Condition: not provided
Nemaline myopathy
Arthrogryposis multiplex congenita 6

Criteria Provided
Conflicting Classifications

CA348825059

rs_1553605553

6 SubmittersRCV000667222 RCV001784247 RCV005253039 RCV003465470

NM_001164508.2(NEB):c.6076-1G>T

SNV
Germline

Chr2:151658091

Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6
Nemaline myopathy
Arthrogryposis multiplex congenita 6
Nemaline myopathy 2

Reviewed By Expert Panel

CA348802582

rs_1553469502

5 SubmittersRCV000668960 RCV003465487 RCV004732994 RCV005019131

NM_001164508.2(NEB):c.1365+2T>C

SNV
Germline

Chr2:151697348

Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA57677350

rs_770797137

5 SubmittersRCV000667221 RCV004568507 RCV005027788

NM_001164508.2(NEB):c.3567+1G>C

SNV
Unknown

Chr2:151677875

Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

CA348818815

rs_587780399

2 SubmittersRCV000675022 RCV003472181

NM_001164508.2(NEB):c.1258-2A>G

SNV
Germline

Chr2:151697459

Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA348825795

rs_1553608621

3 SubmittersRCV000667220 RCV003465469

NM_001164508.2(NEB):c.5763+5G>A

SNV
Germline

Chr2:151663543

Pathogenic/Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6
NEB-related disorder
Nemaline myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA1910287

rs_776167256

6 SubmittersRCV000667575 RCV004568510 RCV004698847 RCV005253046

NM_001164508.2(NEB):c.4337G>T (p.Gly1446Val)

SNV
Germline

Chr2:151671192

Likely pathogenic

Nemaline myopathy 2
Nemaline myopathy
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA348815947

rs_541803470

4 SubmittersRCV000666609 RCV001553645 RCV005027784

NM_001164508.2(NEB):c.3874A>G (p.Ser1292Gly)

SNV
Germline

Chr2:151675292

Conflicting classifications of pathogenicity

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6
Nemaline myopathy

Criteria Provided
Conflicting Classifications

CA348817869

rs_1553521537

5 SubmittersRCV000667109 RCV003465463 RCV005019115 RCV005253035

NM_001164508.2(NEB):c.1470+1G>A

SNV
Germline

Chr2:151697147

Pathogenic/Likely pathogenic

Nemaline myopathy 2
Condition: not provided
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA348825282

rs_1220787593

4 SubmittersRCV000672930 RCV001784279 RCV005019150

NM_001164508.2(NEB):c.3255+1G>C

SNV
Germline

Chr2:151679720

Pathogenic/Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6
Arthrogryposis multiplex congenita 6
Nemaline myopathy 2
Nemaline myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA1910961

rs_375628303

5 SubmittersRCV000668568 RCV003459598 RCV005019127 RCV005253050

NM_001164508.2(NEB):c.78+1G>A

SNV
Germline

Chr2:151729614

Pathogenic

Nemaline myopathy 2
Nemaline myopathy
Condition: not provided
Arthrogryposis multiplex congenita 6
NEB-related disorder
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Reviewed By Expert Panel

CA1912012

rs_778593702

9 SubmittersRCV000667209 RCV000781651 RCV001784246 RCV003465467 RCV004547838 RCV005019117

NM_001164508.2(NEB):c.1153-2A>G

SNV
Germline

Chr2:151697650

Conflicting classifications of pathogenicity

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6
Nemaline myopathy

Criteria Provided
Conflicting Classifications

CA348826047

rs_1553609515

4 SubmittersRCV000667210 RCV003465468 RCV005253038

NM_000113.3(TOR1A):c.862C>T (p.Arg288Ter)

SNV
Germline

Chr9:129814109

Pathogenic/Likely pathogenic

Early-onset generalized limb-onset dystonia
Condition: not provided
Arthrogryposis multiplex congenita 5
Dystonic disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA5278519

rs_760768475

10 SubmittersRCV000677723 RCV001592856 RCV001250912 RCV005091969

NM_001164508.2(NEB):c.23986G>A (p.Glu7996Lys)

SNV
Germline

Chr2:151501426

Conflicting classifications of pathogenicity

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6
Nemaline myopathy 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA348780470

rs_1202510810

4 SubmittersRCV000705808 RCV002485766 RCV003130021

NM_001164508.2(NEB):c.25172G>A (p.Arg8391Gln)

SNV
Germline

Chr2:151490497

Conflicting classifications of pathogenicity

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6
Nemaline myopathy 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1905787

rs_749034995

5 SubmittersRCV000686525 RCV002493148 RCV003133508

NM_001164508.2(NEB):c.5495T>C (p.Ile1832Thr)

SNV
Germline

Chr2:151663816

Conflicting classifications of pathogenicity

Nemaline myopathy 2
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1910351

rs_751494785

7 SubmittersRCV000696117 RCV002477581 RCV003133544 RCV004026366

NM_001164508.2(NEB):c.17242C>T (p.Arg5748Trp)

SNV
Germline

Chr2:151570269

Conflicting classifications of pathogenicity

Nemaline myopathy 2
Condition: not provided
Arthrogryposis multiplex congenita 6
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1908255

rs_546869744

6 SubmittersRCV000691938 RCV001756183 RCV003447553 RCV002544927

NM_001164508.2(NEB):c.5364G>A (p.Trp1788Ter)

SNV
Germline

Chr2:151664588

Pathogenic/Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6
Nemaline myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA1910381

rs_201636991

3 SubmittersRCV000703915 RCV003465629 RCV005253083

NM_001164508.2(NEB):c.22170C>G (p.Tyr7390Ter)

SNV
Germline

Chr2:151525265

Pathogenic/Likely pathogenic

Nemaline myopathy 2
Nemaline myopathy
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6
Arthrogryposis multiplex congenita 6
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA1906743

rs_748922882

6 SubmittersRCV000701148 RCV000781648 RCV002499258 RCV003465616 RCV004719960

NM_001164508.2(NEB):c.21970A>C (p.Lys7324Gln)

SNV
Germline

Chr2:151526238

Conflicting classifications of pathogenicity

Nemaline myopathy 2
Condition: not provided
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1906820

rs_756646859

6 SubmittersRCV000704917 RCV002286785 RCV002477626 RCV005372416

NM_139284.3(LGI4):c.2T>C (p.Met1Thr)

SNV
Germline

Chr19:35134679

Pathogenic

Arthrogryposis multiplex congenita 2, neurogenic type

Criteria Provided
Single Submitter

CA405315627

rs_1207534366

1 SubmittersRCV000766216

NM_001164508.2(NEB):c.1161C>G (p.Tyr387Ter)

SNV
Germline

Chr2:151697640

Pathogenic/Likely pathogenic

Condition: not provided
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA348826023

rs_1259297878

3 SubmittersRCV000712377 RCV001059086 RCV003465650

NM_004560.4(ROR2):c.1675G>A (p.Gly559Ser)

SNV
Germline

Chr9:91724819

Conflicting classifications of pathogenicity

not specified
Arthrogryposis multiplex congenita
Fetal akinesia deformation sequence 1
Short stature
Condition: not provided
Brachydactyly type B1
Autosomal recessive Robinow syndrome

Criteria Provided
Conflicting Classifications

CA5120613

rs_117134265

7 SubmittersRCV000732649 RCV000855500 RCV001310261 RCV000903196 RCV005047000

NM_001198800.3(ASCC1):c.626+1G>A

SNV
Germline

Chr10:72161537

Pathogenic/Likely pathogenic

Spinal muscular atrophy with congenital bone fractures 2
Fetal akinesia deformation sequence 1
Condition: not provided
Arthrogryposis multiplex congenita
Fetal akinesia deformation sequence 1

Criteria Provided
Multiple Submitters
No Conflicts

CA5548982

rs_747595523

8 SubmittersRCV000791458 RCV001004046 RCV001796204 RCV000855457

NM_001164508.2(NEB):c.19030C>T (p.Gln6344Ter)

SNV
Germline

Chr2:151561279

Pathogenic/Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA348795582

rs_1559940778

2 SubmittersRCV000778566 RCV003465706

NM_001378183.1(PIEZO2):c.1384C>T (p.Arg462Ter)

SNV
Germline

Chr18:10797517

Pathogenic

Arthrogryposis, distal, with impaired proprioception and touch
Arthrogryposis multiplex congenita
Fetal akinesia deformation sequence 1

Criteria Provided
Single Submitter

CA401925060

rs_1568069621

2 SubmittersRCV000779589 RCV000855470

NM_001164508.2(NEB):c.25136T>G (p.Leu8379Ter)

SNV
Germline

Chr2:151491697

Pathogenic

Nemaline myopathy
Arthrogryposis multiplex congenita 6
Nemaline myopathy 2

Criteria Provided
Multiple Submitters
No Conflicts

CA1905811

rs_760200697

4 SubmittersRCV000781652 RCV004569492 RCV001214341

NM_001164508.2(NEB):c.21793C>T (p.Arg7265Ter)

SNV
Germline

Chr2:151527528

Pathogenic/Likely pathogenic

Nemaline myopathy
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6
Arthrogryposis multiplex congenita 6
Nemaline myopathy 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA1906876

rs_750900690

5 SubmittersRCV000780533 RCV001869153 RCV003467310 RCV005029436 RCV004719983

NM_001164508.2(NEB):c.20554G>T (p.Glu6852Ter)

SNV
Germline

Chr2:151545911

Pathogenic/Likely pathogenic

Nemaline myopathy
Nemaline myopathy 2
Condition: not provided
Arthrogryposis multiplex congenita 6
Nemaline myopathy 2

Criteria Provided
Multiple Submitters
No Conflicts

CA1907244

rs_777819332

4 SubmittersRCV000780532 RCV001384439 RCV001731923 RCV005029435

NM_182961.4(SYNE1):c.26236C>T (p.Arg8746Ter)

SNV
Germline

Chr6:152122594

Pathogenic/Likely pathogenic

Arthrogryposis multiplex congenita 3, myogenic type
Cleft lip/palate

Criteria Provided
Multiple Submitters
No Conflicts

CA4052600

rs_746177326

3 SubmittersRCV000787309 RCV005626209

NM_001164508.2(NEB):c.24650G>A (p.Arg8217His)

SNV
Germline

Chr2:151493797

Conflicting classifications of pathogenicity

Nemaline myopathy 2
Condition: not provided
Arthrogryposis multiplex congenita 6
Nemaline myopathy 2

Criteria Provided
Conflicting Classifications

CA1905968

rs_201291446

5 SubmittersRCV000822717 RCV003130076 RCV002501141

NM_001164508.2(NEB):c.24579G>C (p.Ser8193=)

SNV
Germline

Chr2:151494161

Pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6
Arthrogryposis multiplex congenita 6
Nemaline myopathy 2
Nemaline myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA1905996

rs_202048855

5 SubmittersRCV000814228 RCV003472421 RCV005029499 RCV005253145

NM_001164508.2(NEB):c.24172C>T (p.Gln8058Ter)

SNV
Germline

Chr2:151498295

Pathogenic/Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA348779212

rs_1323364980

2 SubmittersRCV000795495 RCV003472345

NM_001164508.2(NEB):c.23626C>T (p.Gln7876Ter)

SNV
Germline

Chr2:151506189

Pathogenic/Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA1906309

rs_537560378

2 SubmittersRCV000800326 RCV003467382

NM_001164508.2(NEB):c.18859C>T (p.Arg6287Cys)

SNV
Germline

Chr2:151562643

Conflicting classifications of pathogenicity

Nemaline myopathy 2
Condition: not provided
Arthrogryposis multiplex congenita 6
Nemaline myopathy 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1907835

rs_374606967

7 SubmittersRCV000801391 RCV002222638 RCV002507387 RCV004639361

NM_001164508.2(NEB):c.8381A>T (p.Tyr2794Phe)

SNV
Germline

Chr2:151640659

Conflicting classifications of pathogenicity

Nemaline myopathy 2
Condition: not provided
Arthrogryposis multiplex congenita 6
Nemaline myopathy
Arthrogryposis multiplex congenita 6
Nemaline myopathy 2

Criteria Provided
Conflicting Classifications

CA1909597

rs_750548574

8 SubmittersRCV000810643 RCV003130061 RCV003467443 RCV005253141 RCV002507410

NM_001164508.2(NEB):c.6481C>T (p.Arg2161Cys)

SNV
Germline

Chr2:151656167

Conflicting classifications of pathogenicity

Nemaline myopathy 2
Condition: not provided
Arthrogryposis multiplex congenita 6
Nemaline myopathy 2

Criteria Provided
Conflicting Classifications

CA1910094

rs_201758329

4 SubmittersRCV000821245 RCV003132105 RCV002487840

NM_001164508.2(NEB):c.717+1G>A

SNV
Germline

Chr2:151723381

Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA348790210

rs_1577833924

2 SubmittersRCV000793645 RCV003467335

NM_001164508.2(NEB):c.1674+1G>A

SNV
Germline

Chr2:151695577

Pathogenic/Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA348824805

rs_750585238

2 SubmittersRCV000807407 RCV003467420

NM_182961.4(SYNE1):c.16390-2A>G

SNV
Germline

Chr6:152318265

Pathogenic/Likely pathogenic

Autosomal recessive ataxia, Beauce type
Autosomal recessive cerebellar ataxia
Condition: not provided
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Inborn genetic diseases
Autosomal recessive ataxia, Beauce type
Arthrogryposis multiplex congenita 3, myogenic type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Multiple Submitters
No Conflicts

CA366112657

rs_759460806

8 SubmittersRCV000002415 RCV000826129 RCV000993140 RCV001383383 RCV001265815 RCV005036235

NM_015378.4(VPS13D):c.4243G>A (p.Asp1415Asn)

SNV
Germline

Chr1:12277831

Conflicting classifications of pathogenicity

Fetal akinesia deformation sequence 1
Arthrogryposis multiplex congenita
Condition: not provided
VPS13D-related disorder

Criteria Provided
Conflicting Classifications

CA602099

rs_79282181

4 SubmittersRCV000855522 RCV002064422 RCV003908141

NM_018136.5(ASPM):c.2863C>T (p.Gln955Ter)

SNV
Germline

Chr1:197128563

Pathogenic

Fetal akinesia deformation sequence 1
Arthrogryposis multiplex congenita
Microcephaly 5, primary, autosomal recessive
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA1310334

rs_774338373

3 SubmittersRCV000855491 RCV003453775 RCV001816923

NM_001100.4(ACTA1):c.739G>A (p.Gly247Arg)

SNV
Germline

Chr1:229432063

Pathogenic

Fetal akinesia deformation sequence 1
Arthrogryposis multiplex congenita
Actin accumulation myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA345146753

rs_1057521117

2 SubmittersRCV000855456 RCV003517274

NM_000751.3(CHRND):c.452G>C (p.Cys151Ser)

SNV
Germline

Chr2:232528599

Likely pathogenic

Fetal akinesia deformation sequence 1
Arthrogryposis multiplex congenita

Criteria Provided
Single Submitter

CA350998301

rs_1574630583

1 SubmittersRCV000855459

NM_001384125.1(BLTP1):c.3926G>A (p.Arg1309Gln)

SNV
Unknown

Chr4:122239608

Likely pathogenic

Fetal akinesia deformation sequence 1
Arthrogryposis multiplex congenita

Criteria Provided
Single Submitter

CA358089925

rs_1460624416

1 SubmittersRCV000855516

NM_001384125.1(BLTP1):c.12154T>C (p.Tyr4052His)

SNV
Unknown

Chr4:122336233

Likely pathogenic

Fetal akinesia deformation sequence 1
Arthrogryposis multiplex congenita

Criteria Provided
Single Submitter

CA3067930

rs_777407076

1 SubmittersRCV000855517

NM_177924.5(ASAH1):c.491G>T (p.Gly164Val)

SNV
Germline

Chr8:18063197

Conflicting classifications of pathogenicity

Fetal akinesia deformation sequence 1
Arthrogryposis multiplex congenita
Condition: not provided

Criteria Provided
Conflicting Classifications

CA370431037

rs_1588980220

2 SubmittersRCV000855490 RCV002536200

NM_177924.5(ASAH1):c.88G>A (p.Asp30Asn)

SNV
Germline

Chr8:18075578

Conflicting classifications of pathogenicity

Fetal akinesia deformation sequence 1
Arthrogryposis multiplex congenita
Condition: not provided
Farber lipogranulomatosis

Criteria Provided
Conflicting Classifications

CA4651083

rs_200758704

4 SubmittersRCV000855489 RCV000983934 RCV001164025

NM_005055.5(RAPSN):c.794C>T (p.Ala265Val)

SNV
Germline

Chr11:47441729

Conflicting classifications of pathogenicity

Fetal akinesia deformation sequence 1
Arthrogryposis multiplex congenita
Fetal akinesia deformation sequence 2

Criteria Provided
Conflicting Classifications

CA380329822

rs_1040279711

2 SubmittersRCV000855474 RCV005359606

NM_001330260.2(SCN8A):c.719T>C (p.Ile240Thr)

SNV
Germline

Chr12:51699582

Likely pathogenic

Fetal akinesia deformation sequence 1
Arthrogryposis multiplex congenita
Developmental and epileptic encephalopathy, 13

Criteria Provided
Multiple Submitters
No Conflicts

CA385226373

rs_1592387849

2 SubmittersRCV000855503 RCV001775152

NM_052867.4(NALCN):c.1783G>T (p.Val595Phe)

SNV
Germline

Chr13:101176356

Likely pathogenic

Fetal akinesia deformation sequence 1
Arthrogryposis multiplex congenita

Criteria Provided
Single Submitter

CA388702919

rs_1594368753

1 SubmittersRCV000855468

NM_052867.4(NALCN):c.950T>G (p.Phe317Cys)

SNV
Germline

Chr13:101292087

Likely pathogenic

Fetal akinesia deformation sequence 1
Arthrogryposis multiplex congenita

Criteria Provided
Single Submitter

CA388704839

rs_1594616249

1 SubmittersRCV000855467

NM_052867.4(NALCN):c.191A>G (p.Tyr64Cys)

SNV
Unknown

Chr13:101395283

Likely pathogenic

Fetal akinesia deformation sequence 1
Arthrogryposis multiplex congenita

Criteria Provided
Single Submitter

CA7036526

rs_762389271

1 SubmittersRCV000855469

NM_001376.5(DYNC1H1):c.10357G>A (p.Val3453Ile)

SNV
Germline

Chr14:102033428

Conflicting classifications of pathogenicity

Fetal akinesia deformation sequence 1
Arthrogryposis multiplex congenita
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Conflicting Classifications

CA7353397

rs_778115137

2 SubmittersRCV000855520 RCV001366306

NM_001376.5(DYNC1H1):c.12600G>T (p.Gly4200=)

SNV
Germline

Chr14:102043961

Conflicting classifications of pathogenicity

Fetal akinesia deformation sequence 1
Arthrogryposis multiplex congenita
Charcot-Marie-Tooth disease axonal type 2O

Criteria Provided
Conflicting Classifications

CA488186538

rs_1595633027

2 SubmittersRCV000855523 RCV001367404

NM_001083614.2(EARS2):c.814G>A (p.Ala272Thr)

SNV
Germline

Chr16:23535032

Conflicting classifications of pathogenicity

Fetal akinesia deformation sequence 1
Arthrogryposis multiplex congenita
Condition: not provided
Mitochondrial disease

Criteria Provided
Conflicting Classifications

CA7962501

rs_749912939

4 SubmittersRCV000855494 RCV001310323 RCV005359607

NM_003632.3(CNTNAP1):c.69C>G (p.Tyr23Ter)

SNV
Germline

Chr17:42683822

Pathogenic

Fetal akinesia deformation sequence 1
Arthrogryposis multiplex congenita

Criteria Provided
Single Submitter

CA399632041

rs_1597802927

1 SubmittersRCV000855460

NM_003632.3(CNTNAP1):c.1906G>A (p.Val636Met)

SNV
Germline

Chr17:42690789

Likely pathogenic

Fetal akinesia deformation sequence 1
Arthrogryposis multiplex congenita

Criteria Provided
Single Submitter

CA399642944

rs_1597807901

1 SubmittersRCV000855461

NM_000334.4(SCN4A):c.2018T>C (p.Leu673Pro)

SNV
Unknown

Chr17:63959266

Likely pathogenic

Fetal akinesia deformation sequence 1
Arthrogryposis multiplex congenita

Criteria Provided
Single Submitter

CA400631560

rs_1597978607

1 SubmittersRCV000855486

NM_001378183.1(PIEZO2):c.911A>G (p.Tyr304Cys)

SNV
Unknown

Chr18:10855359

Conflicting classifications of pathogenicity

Fetal akinesia deformation sequence 1
Arthrogryposis multiplex congenita
Arthrogryposis, distal, with impaired proprioception and touch

Criteria Provided
Conflicting Classifications

CA8892803

rs_773449118

2 SubmittersRCV000855471 RCV003147564

NM_139284.3(LGI4):c.1031T>A (p.Leu344Gln)

SNV
Germline

Chr19:35126538

Likely pathogenic

Fetal akinesia deformation sequence 1
Arthrogryposis multiplex congenita

Criteria Provided
Single Submitter

CA405305171

rs_1201430967

1 SubmittersRCV000855466

NM_139284.3(LGI4):c.504G>C (p.Trp168Cys)

SNV
Germline

Chr19:35131510

Conflicting classifications of pathogenicity

Fetal akinesia deformation sequence 1
Arthrogryposis multiplex congenita
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9373323

rs_201728190

2 SubmittersRCV000855465 RCV004820124

NM_000540.3(RYR1):c.1835C>A (p.Ala612Asp)

SNV
Unknown

Chr19:38457540

Likely pathogenic

Fetal akinesia deformation sequence 1
Arthrogryposis multiplex congenita

Criteria Provided
Single Submitter

CA405693870

rs_1600682739

1 SubmittersRCV000855481

NM_000540.3(RYR1):c.2167G>A (p.Gly723Arg)

SNV
Unknown

Chr19:38458292

Likely pathogenic

Fetal akinesia deformation sequence 1
Arthrogryposis multiplex congenita

Criteria Provided
Single Submitter

CA062941

rs_755496104

1 SubmittersRCV000855475

NM_000540.3(RYR1):c.7298T>C (p.Leu2433Pro)

SNV
Germline

Chr19:38499991

Conflicting classifications of pathogenicity

Fetal akinesia deformation sequence 1
Arthrogryposis multiplex congenita
Condition: not provided
RYR1-related disorder

Criteria Provided
Conflicting Classifications

CA405669567

rs_1600822174

3 SubmittersRCV000855484 RCV002275162 RCV003117621

NM_000540.3(RYR1):c.8024C>A (p.Thr2675Lys)

SNV
Germline

Chr19:38504317

Likely pathogenic

Fetal akinesia deformation sequence 1
Arthrogryposis multiplex congenita
Centronuclear myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA405676016

rs_1600843056

2 SubmittersRCV000855478 RCV004586957

NM_000540.3(RYR1):c.10018G>A (p.Val3340Met)

SNV
Germline

Chr19:38517691

Conflicting classifications of pathogenicity

Fetal akinesia deformation sequence 1
Arthrogryposis multiplex congenita
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA405693508

rs_1600892115

2 SubmittersRCV000855480 RCV004803279

NM_000540.3(RYR1):c.13998G>A (p.Lys4666=)

SNV
Unknown

Chr19:38572270

Likely pathogenic

Fetal akinesia deformation sequence 1
Arthrogryposis multiplex congenita

Criteria Provided
Single Submitter

CA507356267

rs_1599649479

1 SubmittersRCV000855483

NM_001001344.3(ATP2B3):c.197C>T (p.Ser66Leu)

SNV
Germline

ChrX:153536444

Likely pathogenic

Fetal akinesia deformation sequence 1
Arthrogryposis multiplex congenita

Criteria Provided
Single Submitter

CA415073373

rs_1603040061

1 SubmittersRCV000855493

NM_001164508.2(NEB):c.23140C>T (p.Arg7714Ter)

SNV
Germline

Chr2:151513681

Pathogenic

Nemaline myopathy 2
Nemaline myopathy
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA348751942

rs_1575714905

5 SubmittersRCV000986832 RCV001526961 RCV003467544

NM_001164508.2(NEB):c.22327C>T (p.Arg7443Ter)

SNV
Germline

Chr2:151524562

Pathogenic/Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA348765022

rs_1576203853

3 SubmittersRCV000986834 RCV004569829

NM_001164508.2(NEB):c.10612C>T (p.Arg3538Ter)

SNV
Germline

Chr2:151619711

Pathogenic/Likely pathogenic

Nemaline myopathy 2
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA348788689

rs_779909544

4 SubmittersRCV000986840 RCV005021290 RCV004569830

NM_017988.6(SCYL2):c.106C>T (p.Arg36Ter)

SNV
Germline

Chr12:100283076

Pathogenic

Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum

Criteria Provided
Single Submitter

CA6737976

rs_760124743

2 SubmittersRCV001000099

NM_001164508.2(NEB):c.13147C>T (p.Gln4383Ter)

SNV
Germline

Chr2:151603685

Pathogenic/Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6
NEB-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA348772320

rs_1212374733

4 SubmittersRCV001004942 RCV003467576 RCV004553551

NM_001164508.2(NEB):c.24988C>T (p.Arg8330Ter)

SNV
Germline

Chr2:151492167

Pathogenic

Nemaline myopathy 2
Condition: not provided
Nemaline myopathy
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA1905855

rs_767709270

7 SubmittersRCV001007837 RCV003141928 RCV003117687 RCV002497328 RCV003473553

NM_001164508.2(NEB):c.12330+2T>C

SNV
Germline

Chr2:151609807

Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6
Nemaline myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA348776468

rs_1374971806

3 SubmittersRCV001027690 RCV003467698 RCV005253684

NM_001164508.2(NEB):c.7964A>G (p.Tyr2655Cys)

SNV
Germline

Chr2:151643346

Conflicting classifications of pathogenicity

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6
Nemaline myopathy
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Conflicting Classifications

CA348813999

rs_1389374032

4 SubmittersRCV001044618 RCV003467734 RCV005253690 RCV005021365

NM_001164508.2(NEB):c.6262G>A (p.Val2088Ile)

SNV
Germline

Chr2:151656386

Conflicting classifications of pathogenicity

Nemaline myopathy 2
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Conflicting Classifications

CA1910136

rs_747729019

3 SubmittersRCV001049602 RCV002481951

NM_001164508.2(NEB):c.17845-2A>T

SNV
Germline

Chr2:151567481

Pathogenic/Likely pathogenic

Nemaline myopathy 2
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6
Nemaline myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA348804231

rs_1177405905

3 SubmittersRCV001050990 RCV005029617 RCV005253694

NM_001164508.2(NEB):c.3879+2T>C

SNV
Germline

Chr2:151675285

Pathogenic/Likely pathogenic

Nemaline myopathy 2
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA348817851

rs_2099350888

2 SubmittersRCV001048753 RCV005021371

NM_001164508.2(NEB):c.12639+1G>A

SNV
Germline

Chr2:151607503

Pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA348774681

rs_2097758221

2 SubmittersRCV001048805 RCV003462542

NM_001164508.2(NEB):c.17118+1G>A

SNV
Germline

Chr2:151570496

Pathogenic

Nemaline myopathy 2
Nemaline myopathy
Condition: not provided
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA1908300

rs_747946275

5 SubmittersRCV001043979 RCV001824918 RCV001784590 RCV002481909

NM_001164508.2(NEB):c.22479G>C (p.Gln7493His)

SNV
Germline

Chr2:151524311

Pathogenic/Likely pathogenic

Condition: not provided
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA348764340

rs_1474341248

2 SubmittersRCV001091990 RCV003469285

NM_001164508.2(NEB):c.18157-2A>G

SNV
Germline

Chr2:151565822

Pathogenic/Likely pathogenic

Condition: not provided
Arthrogryposis multiplex congenita 6
Nemaline myopathy 2

Criteria Provided
Multiple Submitters
No Conflicts

CA57659278

rs_925947627

3 SubmittersRCV001091991 RCV003469286 RCV003769022

NM_001164508.2(NEB):c.11717G>A (p.Arg3906His)

SNV
Germline

Chr2:151612274

Conflicting classifications of pathogenicity

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6
Nemaline myopathy 2
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1908693

rs_556930902

8 SubmittersRCV001134806 RCV002491403 RCV001508087 RCV003331049

NM_001164508.2(NEB):c.5565C>A (p.Asp1855Glu)

SNV
Germline

Chr2:151663746

Conflicting classifications of pathogenicity

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6
Nemaline myopathy 2
Condition: not provided
NEB-related disorder

Criteria Provided
Conflicting Classifications

CA1910339

rs_200468391

5 SubmittersRCV001133833 RCV005394756 RCV001553418 RCV004548010

NM_001164508.2(NEB):c.3571G>A (p.Val1191Ile)

SNV
Germline

Chr2:151677768

Conflicting classifications of pathogenicity

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6
Nemaline myopathy 2
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1910867

rs_767493706

6 SubmittersRCV001135461 RCV002491404 RCV003438662 RCV005443249

NM_182961.4(SYNE1):c.11477A>G (p.Lys3826Arg)

SNV
Germline

Chr6:152352130

Conflicting classifications of pathogenicity

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Condition: not provided
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Arthrogryposis multiplex congenita 3, myogenic type
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

CA4056684

rs_76410834

4 SubmittersRCV001151368 RCV001151369 RCV001340078 RCV003142081 RCV005394769

NM_182961.4(SYNE1):c.3481G>A (p.Gly1161Arg)

SNV
Germline

Chr6:152449556

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Condition: not provided
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Arthrogryposis multiplex congenita 3, myogenic type

Criteria Provided
Conflicting Classifications

CA4058835

rs_149415204

4 SubmittersRCV001156271 RCV001156270 RCV001859019 RCV003142086 RCV005394770

NM_001164508.2(NEB):c.22831C>T (p.Arg7611Ter)

SNV
Germline

Chr2:151516533

Pathogenic

Nemaline myopathy
Nemaline myopathy 2
Condition: not provided
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA1906519

rs_555582398

7 SubmittersRCV001175588 RCV001222350 RCV001580057 RCV004570330

NM_001164508.2(NEB):c.9775C>T (p.Arg3259Ter)

SNV
Germline

Chr2:151629595

Pathogenic/Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6
Nemaline myopathy
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA348798091

rs_1301228529

4 SubmittersRCV001222507 RCV003469384 RCV005253747 RCV005021528

NM_001164508.2(NEB):c.24402C>G (p.Tyr8134Ter)

SNV
Germline

Chr2:151496360

Pathogenic/Likely pathogenic

Nemaline myopathy 2
Abnormality of the musculature
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA1906056

rs_758277406

3 SubmittersRCV001212317 RCV001814281 RCV005029770

NM_001164508.2(NEB):c.2647C>T (p.Arg883Ter)

SNV
Germline

Chr2:151684966

Pathogenic/Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA348822477

rs_1333519240

2 SubmittersRCV001201520 RCV003469320

NM_001164508.2(NEB):c.580C>T (p.Gln194Ter)

SNV
Germline

Chr2:151724292

Pathogenic/Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA348791984

rs_1032240985

2 SubmittersRCV001235353 RCV003469430

NM_001164508.2(NEB):c.19903G>A (p.Asp6635Asn)

SNV
Germline

Chr2:151551779

Conflicting classifications of pathogenicity

Nemaline myopathy 2
Inborn genetic diseases
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Conflicting Classifications

CA1907501

rs_534519331

4 SubmittersRCV001241152 RCV004960625 RCV005394867

NM_001164508.2(NEB):c.19851T>A (p.Tyr6617Ter)

SNV
Germline

Chr2:151551831

Pathogenic/Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA348787326

rs_2095359371

2 SubmittersRCV001241288 RCV003473820

NM_001164508.2(NEB):c.19724G>A (p.Arg6575His)

SNV
Germline

Chr2:151553405

Conflicting classifications of pathogenicity

Nemaline myopathy 2
Condition: not provided
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Conflicting Classifications

CA1907558

rs_185999504

4 SubmittersRCV001247714 RCV003132352 RCV002504365

NM_001164508.2(NEB):c.4151C>G (p.Pro1384Arg)

SNV
Germline

Chr2:151672517

Conflicting classifications of pathogenicity

Nemaline myopathy 2
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Conflicting Classifications

CA1910710

rs_762809955

3 SubmittersRCV001242827 RCV003448382

NM_000113.3(TOR1A):c.952G>A (p.Gly318Ser)

SNV
Germline

Chr9:129814019

Pathogenic

Arthrogryposis multiplex congenita 5

No Assertion Criteria Provided

CA375197434

rs_2030965698

1 SubmittersRCV001250910

NM_139284.3(LGI4):c.1272C>A (p.Cys424Ter)

SNV
Germline

Chr19:35126297

Likely pathogenic

Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect

Criteria Provided
Single Submitter

CA405303811

rs_2065136111

1 SubmittersRCV001251121

NM_001164508.2(NEB):c.1152+1G>T

SNV
Germline

Chr2:151706880

Pathogenic

Nemaline myopathy
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA1911683

rs_398124167

4 SubmittersRCV001251277 RCV001830055 RCV003469483

NM_001384125.1(BLTP1):c.3323+1G>A

SNV
Germline

Chr4:122230212

Likely pathogenic

Severe hydrocephalus
Clubfoot
Arthrogryposis multiplex congenita

Criteria Provided
Single Submitter

CA3066103

rs_775292946

1 SubmittersRCV001257375

NM_001164508.2(NEB):c.20033G>A (p.Arg6678His)

SNV
Germline

Chr2:151549652

Conflicting classifications of pathogenicity

Nemaline myopathy 2
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA348786576

rs_1487589344

4 SubmittersRCV001279751 RCV002480915 RCV003365298

NM_001164508.2(NEB):c.1544A>G (p.Gln515Arg)

SNV
Germline

Chr2:151696662

Conflicting classifications of pathogenicity

Nemaline myopathy 2
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1911545

rs_368150737

6 SubmittersRCV001317075 RCV002493656 RCV003132405 RCV004034411

NM_001164508.2(NEB):c.9580C>T (p.Gln3194Ter)

SNV
Germline

Chr2:151631181

Pathogenic/Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6
Nemaline myopathy 2
Nemaline myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA348799770

rs_2098659971

4 SubmittersRCV001907888 RCV005014731 RCV005253913

NM_001164508.2(NEB):c.20132G>A (p.Arg6711Gln)

SNV
Germline

Chr2:151548333

Conflicting classifications of pathogenicity

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6
Nemaline myopathy 2
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1907430

rs_781250495

5 SubmittersRCV001337749 RCV002504528 RCV003130477 RCV005443327

NM_001164508.2(NEB):c.25390C>A (p.Pro8464Thr)

SNV
Germline

Chr2:151489985

Conflicting classifications of pathogenicity

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Conflicting Classifications

CA1905727

rs_376984481

3 SubmittersRCV001374092 RCV004815490

NM_001164508.2(NEB):c.18472-1G>C

SNV
Germline

Chr2:151563931

Likely pathogenic

Nemaline myopathy 2
Nemaline myopathy
Arthrogryposis multiplex congenita 6
Arthrogryposis multiplex congenita 6
Nemaline myopathy 2

Criteria Provided
Multiple Submitters
No Conflicts

CA348800471

rs_1203257517

5 SubmittersRCV001377790 RCV002307737 RCV003473906 RCV002504630

NM_001164508.2(NEB):c.12330+5G>A

SNV
Germline

Chr2:151609804

Likely pathogenic

Nemaline myopathy 2
Nemaline myopathy
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA1908541

rs_763163879

3 SubmittersRCV001378886 RCV005253825 RCV003469637

NM_001164508.2(NEB):c.10144-2A>G

SNV
Germline

Chr2:151627207

Conflicting classifications of pathogenicity

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6
Nemaline myopathy

Criteria Provided
Conflicting Classifications

CA348793739

rs_1435980710

3 SubmittersRCV001377109 RCV003469622 RCV005253818

NM_001164508.2(NEB):c.4611+1G>A

SNV
Germline

Chr2:151669026

Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6
Nemaline myopathy 2

Criteria Provided
Multiple Submitters
No Conflicts

CA348814909

rs_1233792020

2 SubmittersRCV001376875 RCV005023118

NM_001164508.2(NEB):c.4507-1G>A

SNV
Germline

Chr2:151669132

Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6
Nemaline myopathy 2

Criteria Provided
Multiple Submitters
No Conflicts

CA348815170

rs_2154185810

2 SubmittersRCV001377628 RCV002499776

NM_001164508.2(NEB):c.2836-2A>G

SNV
Germline

Chr2:151682771

Pathogenic/Likely pathogenic

Nemaline myopathy 2
Condition: not provided
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA348821755

rs_1208297049

4 SubmittersRCV001379441 RCV001780296 RCV003462962

NM_001164508.2(NEB):c.928-1G>A

SNV
Germline

Chr2:151709764

Pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA348786465

rs_1162553327

2 SubmittersRCV001379432 RCV003469639

NM_001164508.2(NEB):c.613-1G>A

SNV
Germline

Chr2:151723487

Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA348791703

rs_767693366

2 SubmittersRCV001378539 RCV003473910

NM_001164508.2(NEB):c.19156G>T (p.Glu6386Ter)

SNV
Germline

Chr2:151561054

Pathogenic/Likely pathogenic

Nemaline myopathy 2
Nemaline myopathy
Arthrogryposis multiplex congenita 6
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA348794687

rs_2153702280

4 SubmittersRCV001383444 RCV002282537 RCV003469696 RCV005023139

NM_001164508.2(NEB):c.13173T>A (p.Tyr4391Ter)

SNV
Germline

Chr2:151603659

Pathogenic/Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA348772208

rs_2153930733

2 SubmittersRCV001381646 RCV003473934

NM_001164508.2(NEB):c.13099G>T (p.Gly4367Ter)

SNV
Germline

Chr2:151603733

Pathogenic/Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA348772521

rs_1278785558

2 SubmittersRCV001383589 RCV003473946

NM_001164508.2(NEB):c.12996G>A (p.Trp4332Ter)

SNV
Germline

Chr2:151604623

Pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA348772927

rs_2153939368

2 SubmittersRCV001386832 RCV003469724

NM_001164508.2(NEB):c.8803C>T (p.Gln2935Ter)

SNV
Germline

Chr2:151639943

Pathogenic/Likely pathogenic

Nemaline myopathy 2
Nemaline myopathy
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA348809233

rs_1351747266

3 SubmittersRCV001387965 RCV005253836 RCV004570966

NM_001164508.2(NEB):c.3601A>T (p.Lys1201Ter)

SNV
Germline

Chr2:151677738

Pathogenic/Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6
Nemaline myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA1910865

rs_748453057

3 SubmittersRCV001389858 RCV003473993 RCV005253841

NM_001164508.2(NEB):c.2212-1G>A

SNV
Germline

Chr2:151690826

Pathogenic/Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA348823515

rs_2149103521

2 SubmittersRCV001389495 RCV003463030

NM_001164508.2(NEB):c.18786C>G (p.Tyr6262Ter)

SNV
Germline

Chr2:151562716

Pathogenic

Arthrogryposis multiplex congenita 6

No Assertion Criteria Provided

CA348797980

rs_374874999

1 SubmittersRCV001449899

NM_001164508.2(NEB):c.19102-1G>T

SNV
Germline

Chr2:151561109

Likely pathogenic

Arthrogryposis multiplex congenita 6
Nemaline myopathy

Criteria Provided
Single Submitter

CA348795125

rs_2153702473

2 SubmittersRCV001449901 RCV005253847

NM_001164508.2(NEB):c.11719C>T (p.Gln3907Ter)

SNV
Germline

Chr2:151612272

Pathogenic/Likely pathogenic

Condition: not provided
Arthrogryposis multiplex congenita 6
Nemaline myopathy 2

Criteria Provided
Multiple Submitters
No Conflicts

CA1908691

rs_377182240

3 SubmittersRCV001508086 RCV003470847 RCV002564229

NM_001164508.2(NEB):c.8425C>T (p.Arg2809Ter)

SNV
Germline

Chr2:151640615

Pathogenic/Likely pathogenic

Condition: not provided
Arthrogryposis multiplex congenita 6
Arthrogryposis multiplex congenita 6
Nemaline myopathy 2

Criteria Provided
Multiple Submitters
No Conflicts

CA1909582

rs_762881892

3 SubmittersRCV001589777 RCV003474012 RCV002501944

NM_139284.3(LGI4):c.961G>A (p.Glu321Lys)

SNV
Germline

Chr19:35126608

Likely pathogenic

Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect

No Assertion Criteria Provided

CA405306412

rs_2065139570

1 SubmittersRCV001844373

NM_001164508.2(NEB):c.16704+1G>A

SNV
Germline

Chr2:151579337

Conflicting classifications of pathogenicity

Nemaline myopathy 2
Condition: not provided
Nemaline myopathy
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Conflicting Classifications

CA348750316

rs_1227806763

5 SubmittersRCV001730067 RCV002511098 RCV003323920 RCV005014623

NM_001164508.2(NEB):c.24946C>T (p.Arg8316Ter)

SNV
Germline

Chr2:151492209

Pathogenic/Likely pathogenic

Condition: not provided
Arthrogryposis multiplex congenita 6
Nemaline myopathy 2

Criteria Provided
Multiple Submitters
No Conflicts

CA1905861

rs_758327681

3 SubmittersRCV001784725 RCV003470907 RCV001885165

NM_001164508.2(NEB):c.612+1G>A

SNV
Germline

Chr2:151724259

Pathogenic/Likely pathogenic

Nemaline myopathy 2
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA348791792

rs_1202331107

3 SubmittersRCV003514523 RCV005014659 RCV001784728

NM_139284.3(LGI4):c.61A>T (p.Arg21Ter)

SNV
Germline

Chr19:35134620

Conflicting classifications of pathogenicity

Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9373472

rs_140614229

5 SubmittersRCV001782382 RCV002541202 RCV002541201

NM_001164508.2(NEB):c.19836+1G>A

SNV
Germline

Chr2:151552671

Pathogenic/Likely pathogenic

Arthrogryposis multiplex congenita 6
Nemaline myopathy 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA348787499

rs_1446930968

4 SubmittersRCV003470913 RCV001868865 RCV001782508

NM_182961.4(SYNE1):c.25717A>T (p.Lys8573Ter)

SNV
Germline

Chr6:152135175

Likely pathogenic

Arthrogryposis multiplex congenita 3, myogenic type

Criteria Provided
Single Submitter

CA366078625

rs_1562922141

1 SubmittersRCV001813905

NM_001164508.2(NEB):c.7345C>T (p.Gln2449Ter)

SNV
Germline

Chr2:151650262

Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6
Nemaline myopathy 2

Criteria Provided
Multiple Submitters
No Conflicts

CA348788072

rs_2154134234

2 SubmittersRCV001823584 RCV002489890

NM_001164508.2(NEB):c.25181C>A (p.Ser8394Ter)

SNV
Germline

Chr2:151490488

Pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA348771135

rs_2055484249

2 SubmittersRCV001919308 RCV003471062

NM_001164508.2(NEB):c.19635C>A (p.Tyr6545Ter)

SNV
Germline

Chr2:151553494

Pathogenic/Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA348790285

rs_1335300113

2 SubmittersRCV001905783 RCV003475144

NM_001164508.2(NEB):c.1570-1G>C

SNV
Germline

Chr2:151695683

Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA348825051

rs_1390328608

2 SubmittersRCV001991876 RCV004571934

NM_001164508.2(NEB):c.5309T>A (p.Leu1770Ter)

SNV
Germline

Chr2:151664793

Pathogenic/Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA348811441

rs_2154175437

3 SubmittersRCV001946731 RCV004571728

NM_001164508.2(NEB):c.4748C>T (p.Ala1583Val)

SNV
Germline

Chr2:151666373

Conflicting classifications of pathogenicity

Nemaline myopathy 2
Inborn genetic diseases
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1910537

rs_761956085

4 SubmittersRCV001905904 RCV004953286 RCV005397110 RCV003458102

NM_001164508.2(NEB):c.1470+1G>C

SNV
Germline

Chr2:151697147

Pathogenic/Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6
Nemaline myopathy 2

Criteria Provided
Multiple Submitters
No Conflicts

CA348825281

rs_1220787593

2 SubmittersRCV001995275 RCV005025555

NM_001164508.2(NEB):c.294+1G>A

SNV
Germline

Chr2:151727690

Pathogenic/Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6
Nemaline myopathy 2

Criteria Provided
Multiple Submitters
No Conflicts

CA1911960

rs_759956258

4 SubmittersRCV001992569 RCV005025482

NM_001164508.2(NEB):c.25266C>A (p.Tyr8422Ter)

SNV
Germline

Chr2:151490403

Pathogenic/Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA348770960

rs_1433028646

2 SubmittersRCV001949648 RCV003471192

NM_001164508.2(NEB):c.3996C>G (p.Tyr1332Ter)

SNV
Germline

Chr2:151672672

Pathogenic/Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6
Nemaline myopathy 2

Criteria Provided
Multiple Submitters
No Conflicts

CA348817178

rs_1559093497

2 SubmittersRCV001994822 RCV005016937

NM_001164508.2(NEB):c.21313-2A>T

SNV
Germline

Chr2:151533548

Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA348772003

rs_1212081578

2 SubmittersRCV002038269 RCV004571962

NM_001164508.2(NEB):c.25330C>T (p.Gln8444Ter)

SNV
Germline

Chr2:151490045

Pathogenic/Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6
Nemaline myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA1905739

rs_778104284

3 SubmittersRCV001960729 RCV003475221 RCV005253969

NM_001164508.2(NEB):c.25129C>T (p.Arg8377Ter)

SNV
Germline

Chr2:151491704

Pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6
Condition: not provided
Nemaline myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA1905813

rs_777232352

5 SubmittersRCV001870159 RCV003475120 RCV002511103 RCV005253907

NM_001164508.2(NEB):c.23016+1G>A

SNV
Germline

Chr2:151514817

Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6
Nemaline myopathy 2

Criteria Provided
Multiple Submitters
No Conflicts

CA57618706

rs_111833078

2 SubmittersRCV001979522 RCV005016970

NM_001164508.2(NEB):c.5763+1G>A

SNV
Germline

Chr2:151663547

Likely pathogenic

Nemaline myopathy 2
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA348807013

rs_2154172204

2 SubmittersRCV002037618 RCV005023280

NM_001164508.2(NEB):c.4842C>G (p.Tyr1614Ter)

SNV
Germline

Chr2:151666279

Pathogenic/Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA348813722

rs_2154179061

2 SubmittersRCV001913326 RCV003475154

NM_001164508.2(NEB):c.19294C>T (p.Gln6432Ter)

SNV
Germline

Chr2:151560612

Pathogenic/Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA348793753

rs_2153700128

2 SubmittersRCV001913107 RCV003471025

NM_001164508.2(NEB):c.22375-1G>A

SNV
Germline

Chr2:151524416

Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6
Nemaline myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA348764911

rs_949331605

4 SubmittersRCV002025272 RCV003471226 RCV005017008 RCV005253999

NM_001164508.2(NEB):c.5343+5G>A

SNV
Germline

Chr2:151664754

Pathogenic/Likely pathogenic

Nemaline myopathy 2
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6
Nemaline myopathy
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA2573133252

rs_2154175371

5 SubmittersRCV001956264 RCV002507704 RCV004587274 RCV004571745

NM_001164508.2(NEB):c.295-2A>G

SNV
Germline

Chr2:151725562

Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6
Nemaline myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA348794045

rs_1428300892

4 SubmittersRCV001992292 RCV003475280 RCV005017043 RCV005254008

NM_001164508.2(NEB):c.19653G>A (p.Trp6551Ter)

SNV
Germline

Chr2:151553476

Pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA348790169

rs_2153657682

2 SubmittersRCV001987212 RCV003471084

NM_182961.4(SYNE1):c.24600C>T (p.Phe8200=)

SNV
Germline

Chr6:152149519

Conflicting classifications of pathogenicity

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Condition: not provided
Autosomal recessive ataxia, Beauce type
Arthrogryposis multiplex congenita 3, myogenic type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Conflicting Classifications

CA4053140

rs_370421580

4 SubmittersRCV002114824 RCV003434439 RCV002508088

NM_002470.4(MYH3):c.5555C>T (p.Thr1852Met)

SNV
Germline

Chr17:10630099

Conflicting classifications of pathogenicity

Arthrogryposis multiplex congenita
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8391895

rs_539272823

2 SubmittersRCV002269802 RCV003560907

NM_182961.4(SYNE1):c.18955C>T (p.Gln6319Ter)

SNV
Germline

Chr6:152262049

Pathogenic

Arthrogryposis multiplex congenita 3, myogenic type

Criteria Provided
Single Submitter

CA366089743

rs_368468256

1 SubmittersRCV002285129

NM_182961.4(SYNE1):c.23283G>A (p.Trp7761Ter)

SNV
Germline

Chr6:152189270

Pathogenic

Arthrogryposis multiplex congenita 3, myogenic type

Criteria Provided
Single Submitter

CA366093994

rs_2551032977

1 SubmittersRCV002285130

NM_001164508.2(NEB):c.6411C>A (p.Tyr2137Ter)

SNV
Unknown

Chr2:151656237

Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA348798831

rs_2099084606

2 SubmittersRCV002306961 RCV004572232

NM_001164508.2(NEB):c.2095C>T (p.Gln699Ter)

SNV
Germline

Chr2:151692070

Likely pathogenic

Nemaline myopathy 2
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA348823809

rs_2099555780

2 SubmittersRCV002307015 RCV005019177

NM_001164508.2(NEB):c.23556G>A (p.Ser7852=)

SNV
Germline

Chr2:151506909

Conflicting classifications of pathogenicity

Condition: not provided
Arthrogryposis multiplex congenita 6
Nemaline myopathy 2
Nemaline myopathy 2

Criteria Provided
Conflicting Classifications

CA1906331

rs_769787871

3 SubmittersRCV002462363 RCV005397432 RCV003103118

NM_001164508.2(NEB):c.24850G>A (p.Glu8284Lys)

SNV
Germline

Chr2:151492410

Conflicting classifications of pathogenicity

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6
Nemaline myopathy 2

Criteria Provided
Conflicting Classifications

CA1905896

rs_376973987

2 SubmittersRCV003448477 RCV003078939

NM_001164508.2(NEB):c.17833G>A (p.Val5945Ile)

SNV
Germline

Chr2:151568082

Conflicting classifications of pathogenicity

Nemaline myopathy 2
Condition: not provided
Inborn genetic diseases
Arthrogryposis multiplex congenita 6
Nemaline myopathy 2

Criteria Provided
Conflicting Classifications

CA1908097

rs_79562044

4 SubmittersRCV002637537 RCV004725558 RCV004961135 RCV005399139

NM_001164508.2(NEB):c.2079C>A (p.Cys693Ter)

SNV
Germline

Chr2:151692086

Likely pathogenic

Nemaline myopathy
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA348823842

rs_2552267817

3 SubmittersRCV002510267 RCV002571593 RCV003465777

NM_001164508.2(NEB):c.23127+2T>A

SNV
Germline

Chr2:151514316

Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA57618337

rs_112610938

2 SubmittersRCV002569913 RCV003475393

NM_001164508.2(NEB):c.23650-2A>T

SNV
Germline

Chr2:151505572

Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA348783503

rs_113925788

2 SubmittersRCV002581418 RCV003465787

NM_001164508.2(NEB):c.22272+1G>A

SNV
Germline

Chr2:151525162

Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA1906727

rs_765866533

2 SubmittersRCV002594750 RCV003465796

NM_001164508.2(NEB):c.7546C>T (p.Arg2516Ter)

SNV
Germline

Chr2:151644566

Pathogenic/Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA348783516

rs_1248414885

2 SubmittersRCV002634728 RCV003465799

NM_001164508.2(NEB):c.12162G>A (p.Trp4054Ter)

SNV
Germline

Chr2:151609977

Pathogenic/Likely pathogenic

Nemaline myopathy 2
Nemaline myopathy
Arthrogryposis multiplex congenita 6
Congenital myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA348777384

rs_2097887468

4 SubmittersRCV002705678 RCV005254127 RCV004571212 RCV005626683

NM_001164508.2(NEB):c.24301-1G>T

SNV
Germline

Chr2:151497034

Likely pathogenic

Nemaline myopathy 2
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA348778666

rs_2551843345

2 SubmittersRCV002818982 RCV005019407

NM_001164508.2(NEB):c.22375-1G>C

SNV
Germline

Chr2:151524416

Likely pathogenic

Arthrogryposis multiplex congenita 6
Nemaline myopathy 2

Criteria Provided
Multiple Submitters
No Conflicts

CA57624776

rs_949331605

2 SubmittersRCV003475440 RCV002861794

NM_001164508.2(NEB):c.2658T>G (p.Tyr886Ter)

SNV
Germline

Chr2:151684955

Pathogenic/Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6
Nemaline myopathy 2

Criteria Provided
Multiple Submitters
No Conflicts

CA348822453

rs_2552265386

2 SubmittersRCV002894848 RCV005027998

NM_001164508.2(NEB):c.7982G>A (p.Trp2661Ter)

SNV
Germline

Chr2:151643328

Pathogenic/Likely pathogenic

Nemaline myopathy 2
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA348813915

rs_2552247008

2 SubmittersRCV003017975 RCV005028113

NM_001164508.2(NEB):c.10916G>A (p.Trp3639Ter)

SNV
Germline

Chr2:151618435

Pathogenic/Likely pathogenic

Nemaline myopathy 2
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA348786535

rs_2552232114

2 SubmittersRCV003020002 RCV005019573

NM_001164508.2(NEB):c.17756G>A (p.Trp5919Ter)

SNV
Germline

Chr2:151568159

Pathogenic/Likely pathogenic

Arthrogryposis multiplex congenita 6
Nemaline myopathy 2

Criteria Provided
Multiple Submitters
No Conflicts

CA348804790

rs_2552194237

2 SubmittersRCV003475478 RCV003047388

NM_139284.3(LGI4):c.312C>A (p.Tyr104Ter)

SNV
Germline

Chr19:35133695

Likely pathogenic

Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect

Criteria Provided
Single Submitter

CA405314801

rs_2513330090

1 SubmittersRCV003146992

NM_000113.3(TOR1A):c.844C>T (p.Arg282Ter)

SNV
Germline

Chr9:129814127

Likely pathogenic

Arthrogryposis multiplex congenita 5

Criteria Provided
Multiple Submitters
No Conflicts

CA5278524

rs_753220814

2 SubmittersRCV003155900

NM_020654.5(SENP7):c.1474C>T (p.Gln492Ter)

SNV
Germline

Chr3:101364836

Likely pathogenic

arthrogryposis multiplex congenita with neutropenia and early respiratory failure

Criteria Provided
Single Submitter

CA353840644

rs_777487611

1 SubmittersRCV003226605

NM_001164508.2(NEB):c.9102+1G>C

SNV
Germline

Chr2:151636226

Likely pathogenic

Nemaline myopathy
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA57660925

rs_143644938

2 SubmittersRCV005254754 RCV003228233

NM_001164508.2(NEB):c.10170G>A (p.Trp3390Ter)

SNV
Germline

Chr2:151627179

Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA348793559

rs_1560619891

2 SubmittersRCV003229530 RCV003475548

NM_182961.4(SYNE1):c.8861C>A (p.Ser2954Ter)

SNV
Germline

Chr6:152381154

Likely pathogenic

Arthrogryposis multiplex congenita 3, myogenic type

Criteria Provided
Single Submitter

CA366144181

rs_145819043

1 SubmittersRCV003340971

NM_001164508.2(NEB):c.6496-1G>A

SNV
Unknown

Chr2:151656024

Pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

CA348798296

rs_2552252715

1 SubmittersRCV003471402

NM_001164508.2(NEB):c.528G>A (p.Trp176Ter)

SNV
Unknown

Chr2:151724344

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

CA348792277

rs_2552279432

1 SubmittersRCV003471403

NM_001164508.2(NEB):c.23452-1G>A

SNV
Unknown

Chr2:151507014

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

CA348784899

rs_2552010360

1 SubmittersRCV003471404

NM_001164508.2(NEB):c.23836-1G>A

SNV
Germline

Chr2:151502886

Likely pathogenic

Arthrogryposis multiplex congenita 6
Nemaline myopathy 2

Criteria Provided
Multiple Submitters
No Conflicts

CA348781969

rs_2551936300

2 SubmittersRCV003471406 RCV003629278

NM_001164508.2(NEB):c.25405-1G>A

SNV
Unknown

Chr2:151485934

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

CA348770169

rs_1553508368

1 SubmittersRCV003476527

NM_001164508.2(NEB):c.10898G>A (p.Trp3633Ter)

SNV
Unknown

Chr2:151618453

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

CA348786657

rs_2552232124

1 SubmittersRCV003471408

NM_001164508.2(NEB):c.1057G>T (p.Glu353Ter)

SNV
Unknown

Chr2:151706976

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

CA348826265

rs_2552273413

1 SubmittersRCV003476528

NM_001164508.2(NEB):c.23355C>G (p.Tyr7785Ter)

SNV
Unknown

Chr2:151508101

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

CA348785601

rs_1575514028

1 SubmittersRCV003476529

NM_001164508.2(NEB):c.843T>G (p.Tyr281Ter)

SNV
Unknown

Chr2:151710518

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

CA348787020

rs_2552275070

1 SubmittersRCV003471411

NM_001164508.2(NEB):c.9441G>A (p.Trp3147Ter)

SNV
Unknown

Chr2:151631320

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

CA348801358

rs_2552238380

1 SubmittersRCV003471413

NM_001164508.2(NEB):c.20578-1G>C

SNV
Unknown

Chr2:151541552

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

CA348779120

rs_2552160214

1 SubmittersRCV003476531

NM_001164508.2(NEB):c.21630+2T>C

SNV
Unknown

Chr2:151530992

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

CA348770134

rs_2552139054

1 SubmittersRCV003471414

NM_001164508.2(NEB):c.22009C>T (p.Gln7337Ter)

SNV
Unknown

Chr2:151526199

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

CA348766826

rs_2552117623

1 SubmittersRCV003471415

NM_001164508.2(NEB):c.24579+1G>C

SNV
Unknown

Chr2:151494160

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

CA348776584

rs_2058584112

1 SubmittersRCV003476532

NM_001164508.2(NEB):c.16252C>T (p.Gln5418Ter)

SNV
Unknown

Chr2:151581515

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

CA348754109

rs_2552208262

1 SubmittersRCV003471418

NM_001164508.2(NEB):c.1365+1G>A

SNV
Unknown

Chr2:151697349

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

CA348825540

rs_1379418184

1 SubmittersRCV003471419

NM_001164508.2(NEB):c.11911-2A>G

SNV
Unknown

Chr2:151610625

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

CA348778332

rs_2552227879

1 SubmittersRCV003476535

NM_001164508.2(NEB):c.25404+1G>A

SNV
Unknown

Chr2:151489970

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

CA348770667

rs_2551643451

1 SubmittersRCV003471421

NM_001164508.2(NEB):c.11665G>T (p.Glu3889Ter)

SNV
Unknown

Chr2:151612326

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

CA348780464

rs_1318105962

1 SubmittersRCV003476538

NM_001164508.2(NEB):c.14794C>T (p.Gln4932Ter)

SNV
Unknown

Chr2:151592066

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

CA348762478

rs_2552216787

1 SubmittersRCV003471423

NM_001164508.2(NEB):c.12220C>T (p.Gln4074Ter)

SNV
Germline

Chr2:151609919

Pathogenic/Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA348777111

rs_2552227195

2 SubmittersRCV003629280 RCV003471425

NM_001164508.2(NEB):c.17737-1G>A

SNV
Unknown

Chr2:151568179

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

CA348804838

rs_2552194255

1 SubmittersRCV003471427

NM_001164508.2(NEB):c.1921A>T (p.Lys641Ter)

SNV
Unknown

Chr2:151692338

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

CA348824212

rs_1445629270

1 SubmittersRCV003471428

NM_001164508.2(NEB):c.11289+1G>A

SNV
Unknown

Chr2:151616001

Pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

CA348783593

rs_1553901249

1 SubmittersRCV003471429

NM_001164508.2(NEB):c.8516G>A (p.Trp2839Ter)

SNV
Unknown

Chr2:151640524

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

CA1909563

rs_772959616

1 SubmittersRCV003471430

NM_001164508.2(NEB):c.3390T>G (p.Tyr1130Ter)

SNV
Germline

Chr2:151678053

Pathogenic/Likely pathogenic

Arthrogryposis multiplex congenita 6
Nemaline myopathy
Nemaline myopathy 2

Criteria Provided
Multiple Submitters
No Conflicts

CA1910918

rs_767079113

3 SubmittersRCV003471432 RCV005254794 RCV003514645

NM_001164508.2(NEB):c.25151-2A>G

SNV
Unknown

Chr2:151490520

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

CA348771236

rs_2551672017

1 SubmittersRCV003476544

NM_001164508.2(NEB):c.5907T>G (p.Tyr1969Ter)

SNV
Unknown

Chr2:151662198

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

CA348805752

rs_2552255512

1 SubmittersRCV003471435

NM_001164508.2(NEB):c.1258A>T (p.Lys420Ter)

SNV
Unknown

Chr2:151697457

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

CA348825789

rs_200298261

1 SubmittersRCV003476545

NM_001164508.2(NEB):c.16756C>T (p.Gln5586Ter)

SNV
Unknown

Chr2:151576303

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

CA348810884

rs_2552199770

1 SubmittersRCV003476546

NM_001164508.2(NEB):c.8890-2A>G

SNV
Unknown

Chr2:151639386

Pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

CA348807848

rs_2552242957

1 SubmittersRCV003471436

NM_001164508.2(NEB):c.1871T>A (p.Leu624Ter)

SNV
Germline

Chr2:151694348

Pathogenic/Likely pathogenic

Arthrogryposis multiplex congenita 6
Arthrogryposis multiplex congenita 6
Nemaline myopathy 2
Nemaline myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA348824340

rs_2552268543

3 SubmittersRCV003476547 RCV005021974 RCV005419630

NM_001164508.2(NEB):c.23347-2A>G

SNV
Germline

Chr2:151508111

Likely pathogenic

Arthrogryposis multiplex congenita 6
Nemaline myopathy 2

Criteria Provided
Multiple Submitters
No Conflicts

CA348785659

rs_2552036488

2 SubmittersRCV003471439 RCV003779061

NM_001164508.2(NEB):c.25404+1G>T

SNV
Unknown

Chr2:151489970

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

CA348770665

rs_2551643451

1 SubmittersRCV003476551

NM_001164508.2(NEB):c.10560+1G>C

SNV
Unknown

Chr2:151620918

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

CA348789070

rs_1553915731

1 SubmittersRCV003476554

NM_001164508.2(NEB):c.22051-2A>C

SNV
Unknown

Chr2:151526070

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

CA348766468

rs_2552116988

1 SubmittersRCV003476556

NM_001164508.2(NEB):c.7093G>T (p.Gly2365Ter)

SNV
Germline

Chr2:151650708

Pathogenic/Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA348789957

rs_2552249907

2 SubmittersRCV003629281 RCV003476557

NM_001164508.2(NEB):c.12853C>T (p.Gln4285Ter)

SNV
Unknown

Chr2:151604766

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

CA348773649

rs_2552224168

1 SubmittersRCV003476561

NM_001164508.2(NEB):c.14741G>A (p.Trp4914Ter)

SNV
Unknown

Chr2:151592119

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

CA348762599

rs_1326281375

1 SubmittersRCV003476562

NM_001164508.2(NEB):c.17362C>T (p.Gln5788Ter)

SNV
Unknown

Chr2:151570149

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

CA348807565

rs_2552195829

1 SubmittersRCV003476564

NM_001164508.2(NEB):c.6634C>T (p.Gln2212Ter)

SNV
Unknown

Chr2:151655885

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

CA348797001

rs_2552252628

1 SubmittersRCV003471450

NM_001164508.2(NEB):c.2178T>G (p.Tyr726Ter)

SNV
Unknown

Chr2:151691897

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

CA348823599

rs_2552267736

1 SubmittersRCV003476565

NM_001164508.2(NEB):c.12808C>T (p.Gln4270Ter)

SNV
Unknown

Chr2:151604811

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

CA348773834

rs_1057524648

1 SubmittersRCV003476566

NM_001164508.2(NEB):c.22695+1G>A

SNV
Unknown

Chr2:151518964

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

CA348760130

rs_2552090974

1 SubmittersRCV003471454

NM_001164508.2(NEB):c.936C>G (p.Tyr312Ter)

SNV
Unknown

Chr2:151709755

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

CA348786393

rs_2552274637

1 SubmittersRCV003476571

NM_001164508.2(NEB):c.10059C>A (p.Tyr3353Ter)

SNV
Unknown

Chr2:151627607

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

CA348794730

rs_768102065

1 SubmittersRCV003471457

NM_001164508.2(NEB):c.23149G>T (p.Glu7717Ter)

SNV
Unknown

Chr2:151513672

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

CA348751853

rs_766321668

1 SubmittersRCV003471459

NM_001164508.2(NEB):c.20551C>T (p.Gln6851Ter)

SNV
Unknown

Chr2:151545914

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

CA348779900

rs_2552171912

1 SubmittersRCV003471462

NM_001164508.2(NEB):c.1036-1G>A

SNV
Unknown

Chr2:151706998

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

CA348826321

rs_2552273429

1 SubmittersRCV003471463

NM_001164508.2(NEB):c.24579+1G>A

SNV
Unknown

Chr2:151494160

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

CA348776581

rs_2058584112

1 SubmittersRCV003471464

NM_001164508.2(NEB):c.10477G>T (p.Glu3493Ter)

SNV
Unknown

Chr2:151621002

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

CA348789415

rs_1200480325

1 SubmittersRCV003476574

NM_001164508.2(NEB):c.17457G>A (p.Trp5819Ter)

SNV
Unknown

Chr2:151569346

Pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

CA348806123

rs_2552195317

1 SubmittersRCV003476575

NM_001164508.2(NEB):c.5451+1G>A

SNV
Unknown

Chr2:151664500

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

CA348810060

rs_2552256921

1 SubmittersRCV003471466

NM_001164508.2(NEB):c.13252C>T (p.Gln4418Ter)

SNV
Germline

Chr2:151603580

Pathogenic/Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA348771876

rs_2552222439

2 SubmittersRCV004796812 RCV003471468

NM_001164508.2(NEB):c.22891C>T (p.Gln7631Ter)

SNV
Unknown

Chr2:151516473

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

CA348755539

rs_2552085287

1 SubmittersRCV003471470

NM_001164508.2(NEB):c.17456G>A (p.Trp5819Ter)

SNV
Unknown

Chr2:151569347

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

CA348806130

rs_2096546315

1 SubmittersRCV003463111

NM_001164508.2(NEB):c.1069G>T (p.Gly357Ter)

SNV
Unknown

Chr2:151706964

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

CA348826235

rs_2552273407

1 SubmittersRCV003471471

NM_001164508.2(NEB):c.403-2A>G

SNV
Germline

Chr2:151724963

Likely pathogenic

Arthrogryposis multiplex congenita 6
Arthrogryposis multiplex congenita 6
Nemaline myopathy 2
Nemaline myopathy 2

Criteria Provided
Multiple Submitters
No Conflicts

CA348792874

rs_2552279789

3 SubmittersRCV003471474 RCV005021977 RCV003629284

NM_001164508.2(NEB):c.22906-1G>C

SNV
Unknown

Chr2:151514929

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

CA348754956

rs_2552081312

1 SubmittersRCV003471477

NM_001164508.2(NEB):c.14871T>A (p.Tyr4957Ter)

SNV
Unknown

Chr2:151591411

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

CA348762286

rs_1453402449

1 SubmittersRCV003471484

NM_001164508.2(NEB):c.21220G>T (p.Glu7074Ter)

SNV
Germline

Chr2:151535783

Pathogenic/Likely pathogenic

Arthrogryposis multiplex congenita 6
Nemaline myopathy 2

Criteria Provided
Multiple Submitters
No Conflicts

CA348773155

rs_1266187397

2 SubmittersRCV003463117 RCV003514647

NM_001164508.2(NEB):c.4048C>T (p.Gln1350Ter)

SNV
Unknown

Chr2:151672620

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

CA348817058

rs_1559092256

1 SubmittersRCV003463119

NM_001164508.2(NEB):c.1280T>A (p.Leu427Ter)

SNV
Unknown

Chr2:151697435

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

CA348825734

rs_2552270108

1 SubmittersRCV003463122

NM_001164508.2(NEB):c.7227+1G>A

SNV
Germline

Chr2:151650573

Likely pathogenic

Arthrogryposis multiplex congenita 6
Nemaline myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA348789036

rs_1459939417

2 SubmittersRCV003463124 RCV005254796

NM_001164508.2(NEB):c.3541A>T (p.Lys1181Ter)

SNV
Unknown

Chr2:151677902

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

CA348818882

rs_749655119

1 SubmittersRCV003463127

NM_001164508.2(NEB):c.4300-1G>C

SNV
Germline

Chr2:151671230

Likely pathogenic

Arthrogryposis multiplex congenita 6
Nemaline myopathy 2

Criteria Provided
Multiple Submitters
No Conflicts

CA348816146

rs_1331062755

2 SubmittersRCV003463128 RCV003779063

NM_001164508.2(NEB):c.3042+2T>G

SNV
Unknown

Chr2:151680728

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

CA348820974

rs_2552263977

1 SubmittersRCV003463130

NM_001164508.2(NEB):c.3184A>T (p.Lys1062Ter)

SNV
Unknown

Chr2:151679792

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

CA348820242

rs_192117840

1 SubmittersRCV003463133

NM_001164508.2(NEB):c.22711A>T (p.Lys7571Ter)

SNV
Germline

Chr2:151518407

Pathogenic/Likely pathogenic

Nemaline myopathy 2
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA1906552

rs_748990736

2 SubmittersRCV003628845 RCV005030213

NM_182961.4(SYNE1):c.19158A>C (p.Gly6386=)

SNV
Germline

Chr6:152255693

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Arthrogryposis multiplex congenita 3, myogenic type
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

CA4054746

rs_748717377

2 SubmittersRCV003807076 RCV005040527

NM_001164508.2(NEB):c.4719+2T>A

SNV
Germline

Chr2:151667802

Likely pathogenic

Nemaline myopathy 2
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA348814170

rs_1553501889

2 SubmittersRCV003825593 RCV005014993

NM_182961.4(SYNE1):c.25006C>T (p.Arg8336Ter)

SNV
Germline

Chr6:152143736

Pathogenic/Likely pathogenic

Autosomal recessive ataxia, Beauce type
Arthrogryposis multiplex congenita 3, myogenic type

Criteria Provided
Multiple Submitters
No Conflicts

CA4052977

rs_760678661

2 SubmittersRCV003985000 RCV005358082

NM_001164508.2(NEB):c.10592T>A (p.Leu3531Ter)

SNV
Unknown

Chr2:151619731

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

rs_2098336133

1 SubmittersRCV004576323

NM_001164508.2(NEB):c.2173G>T (p.Glu725Ter)

SNV
Unknown

Chr2:151691902

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

rs_2552267739

1 SubmittersRCV004576325

NM_001164508.2(NEB):c.20683-2A>C

SNV
Unknown

Chr2:151540803

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

rs_2552157271

1 SubmittersRCV004576327

NM_001164508.2(NEB):c.24190C>T (p.Gln8064Ter)

SNV
Unknown

Chr2:151498277

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

rs_2551871389

1 SubmittersRCV004576328

NM_001164508.2(NEB):c.20929A>T (p.Lys6977Ter)

SNV
Unknown

Chr2:151538208

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

rs_2552151159

1 SubmittersRCV004576329

NM_001164508.2(NEB):c.5971-1G>A

SNV
Unknown

Chr2:151659170

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

rs_2099118735

1 SubmittersRCV004576330

NM_001164508.2(NEB):c.16204A>T (p.Lys5402Ter)

SNV
Unknown

Chr2:151581563

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

rs_2552208321

1 SubmittersRCV004576331

NM_001164508.2(NEB):c.402+1G>A

SNV
Unknown

Chr2:151725452

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

rs_2552279972

1 SubmittersRCV004576332

NM_001164508.2(NEB):c.2772C>G (p.Tyr924Ter)

SNV
Unknown

Chr2:151684841

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

rs_1466946196

1 SubmittersRCV004576333

NM_001164508.2(NEB):c.21007A>T (p.Lys7003Ter)

SNV
Unknown

Chr2:151537967

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

rs_2552150723

1 SubmittersRCV004576335

NM_001164508.2(NEB):c.10683C>A (p.Tyr3561Ter)

SNV
Unknown

Chr2:151619640

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

rs_2098334069

1 SubmittersRCV004576341

NM_001164508.2(NEB):c.10452+1G>C

SNV
Unknown

Chr2:151625533

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

rs_111863059

1 SubmittersRCV004576344

NM_001164508.2(NEB):c.11628G>A (p.Trp3876Ter)

SNV
Germline

Chr2:151612363

Pathogenic/Likely pathogenic

Nemaline myopathy
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

rs_201719702

2 SubmittersRCV005254909 RCV004576347

NM_001164508.2(NEB):c.21639C>A (p.Tyr7213Ter)

SNV
Unknown

Chr2:151529306

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

rs_1416012783

1 SubmittersRCV004576351

NM_001164508.2(NEB):c.24748C>T (p.Gln8250Ter)

SNV
Unknown

Chr2:151493370

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

rs_2551726011

1 SubmittersRCV004576352

NM_001164508.2(NEB):c.17013+1G>A

SNV
Unknown

Chr2:151575694

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

rs_1474860245

1 SubmittersRCV004576353

NM_001164508.2(NEB):c.18262-1G>T

SNV
Unknown

Chr2:151565606

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

rs_2096326746

1 SubmittersRCV004576355

NM_001164508.2(NEB):c.24589A>T (p.Lys8197Ter)

SNV
Unknown

Chr2:151493858

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

rs_1464359123

1 SubmittersRCV004576358

NM_001164508.2(NEB):c.22209C>G (p.Tyr7403Ter)

SNV
Unknown

Chr2:151525226

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

rs_2552113620

1 SubmittersRCV004576360

NM_001164508.2(NEB):c.16929G>A (p.Trp5643Ter)

SNV
Unknown

Chr2:151575779

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

rs_2096805941

1 SubmittersRCV004576361

NM_001164508.2(NEB):c.6612C>A (p.Tyr2204Ter)

SNV
Unknown

Chr2:151655907

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

rs_1281603759

1 SubmittersRCV004576362

NM_001164508.2(NEB):c.18588C>G (p.Tyr6196Ter)

SNV
Unknown

Chr2:151563711

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

rs_774109260

1 SubmittersRCV004576366

NM_001164508.2(NEB):c.22909G>T (p.Glu7637Ter)

SNV
Germline

Chr2:151514925

Conflicting classifications of pathogenicity

Nemaline myopathy
Arthrogryposis multiplex congenita 6

Criteria Provided
Conflicting Classifications

rs_1209865784

2 SubmittersRCV005254911 RCV004576367

NM_001164508.2(NEB):c.7236T>A (p.Tyr2412Ter)

SNV
Unknown

Chr2:151650371

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

rs_1301275168

1 SubmittersRCV004576368

NM_001164508.2(NEB):c.23533G>T (p.Glu7845Ter)

SNV
Unknown

Chr2:151506932

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

rs_1216517249

1 SubmittersRCV004576370

NM_001164508.2(NEB):c.5061G>A (p.Trp1687Ter)

SNV
Unknown

Chr2:151665510

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

rs_765737421

1 SubmittersRCV004576371

NM_001164508.2(NEB):c.17749G>T (p.Glu5917Ter)

SNV
Unknown

Chr2:151568166

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

rs_2552194244

1 SubmittersRCV004574325

NM_001164508.2(NEB):c.9974G>A (p.Trp3325Ter)

SNV
Germline

Chr2:151627692

Pathogenic/Likely pathogenic

Arthrogryposis multiplex congenita 6
Nemaline myopathy 2

Criteria Provided
Multiple Submitters
No Conflicts

rs_2552236697

2 SubmittersRCV004574327 RCV005059554

NM_001164508.2(NEB):c.11939C>A (p.Ser3980Ter)

SNV
Unknown

Chr2:151610595

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

rs_2552227856

1 SubmittersRCV004574331

NM_001164508.2(NEB):c.17737-2A>T

SNV
Unknown

Chr2:151568180

Pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

rs_2552194256

1 SubmittersRCV004574333

NM_001164508.2(NEB):c.4366G>T (p.Glu1456Ter)

SNV
Germline

Chr2:151671163

Pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

1 SubmittersRCV004788626

NM_182961.4(SYNE1):c.3925C>T (p.Arg1309Ter)

SNV
Germline

Chr6:152442158

Pathogenic

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Arthrogryposis multiplex congenita 3, myogenic type
Autosomal recessive ataxia, Beauce type

Criteria Provided
Single Submitter

1 SubmittersRCV004795561

NM_182961.4(SYNE1):c.7642C>T (p.Gln2548Ter)

SNV
Germline

Chr6:152395586

Likely pathogenic

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Arthrogryposis multiplex congenita 3, myogenic type
Autosomal recessive ataxia, Beauce type

Criteria Provided
Single Submitter

1 SubmittersRCV004795562

NM_182961.4(SYNE1):c.15438+2T>C

SNV
Germline

Chr6:152325956

Likely pathogenic

Autosomal recessive ataxia, Beauce type
Arthrogryposis multiplex congenita 3, myogenic type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Criteria Provided
Single Submitter

1 SubmittersRCV004795906

NM_000113.3(TOR1A):c.486T>A (p.Cys162Ter)

SNV
Germline

Chr9:129818879

Likely pathogenic

Arthrogryposis multiplex congenita 5

Criteria Provided
Single Submitter

1 SubmittersRCV004821435

NM_001164508.2(NEB):c.24579G>T (p.Ser8193=)

SNV
Germline

Chr2:151494161

Likely pathogenic

Arthrogryposis multiplex congenita 6
Nemaline myopathy 2

Criteria Provided
Single Submitter

1 SubmittersRCV005028821

NM_001164508.2(NEB):c.24358G>T (p.Glu8120Ter)

SNV
Germline

Chr2:151496976

Likely pathogenic

Arthrogryposis multiplex congenita 6
Nemaline myopathy 2

Criteria Provided
Single Submitter

1 SubmittersRCV005028824

NM_001164508.2(NEB):c.23128-1G>A

SNV
Germline

Chr2:151513694

Likely pathogenic

Arthrogryposis multiplex congenita 6
Nemaline myopathy 2

Criteria Provided
Single Submitter

1 SubmittersRCV005028827

NM_001164508.2(NEB):c.22869C>A (p.Tyr7623Ter)

SNV
Germline

Chr2:151516495

Pathogenic

Arthrogryposis multiplex congenita 6
Nemaline myopathy 2

Criteria Provided
Single Submitter

1 SubmittersRCV005016091

NM_001164508.2(NEB):c.22821T>G (p.Tyr7607Ter)

SNV
Germline

Chr2:151516543

Likely pathogenic

Arthrogryposis multiplex congenita 6
Nemaline myopathy 2

Criteria Provided
Single Submitter

1 SubmittersRCV005028828

NM_001164508.2(NEB):c.22162-1G>C

SNV
Germline

Chr2:151525274

Likely pathogenic

Arthrogryposis multiplex congenita 6
Nemaline myopathy 2

Criteria Provided
Single Submitter

1 SubmittersRCV005028830

NM_001164508.2(NEB):c.21631-2A>G

SNV
Germline

Chr2:151529316

Likely pathogenic

Arthrogryposis multiplex congenita 6
Nemaline myopathy 2

Criteria Provided
Single Submitter

1 SubmittersRCV005028831

NM_001164508.2(NEB):c.21313-2A>G

SNV
Germline

Chr2:151533548

Likely pathogenic

Arthrogryposis multiplex congenita 6
Nemaline myopathy 2

Criteria Provided
Single Submitter

1 SubmittersRCV005016094

NM_001164508.2(NEB):c.20674C>T (p.Gln6892Ter)

SNV
Germline

Chr2:151541455

Likely pathogenic

Arthrogryposis multiplex congenita 6
Nemaline myopathy 2

Criteria Provided
Single Submitter

1 SubmittersRCV005016095

NM_001164508.2(NEB):c.20050-2A>T

SNV
Germline

Chr2:151548417

Likely pathogenic

Arthrogryposis multiplex congenita 6
Nemaline myopathy 2

Criteria Provided
Single Submitter

1 SubmittersRCV005016097

NM_001164508.2(NEB):c.18892-1G>T

SNV
Germline

Chr2:151562215

Likely pathogenic

Arthrogryposis multiplex congenita 6
Nemaline myopathy 2

Criteria Provided
Single Submitter

1 SubmittersRCV005028834

NM_001164508.2(NEB):c.18579+1G>T

SNV
Germline

Chr2:151563822

Likely pathogenic

Arthrogryposis multiplex congenita 6
Nemaline myopathy 2

Criteria Provided
Single Submitter

1 SubmittersRCV005016099

NM_001164508.2(NEB):c.18157-2A>C

SNV
Germline

Chr2:151565822

Likely pathogenic

Arthrogryposis multiplex congenita 6
Nemaline myopathy 2

Criteria Provided
Single Submitter

1 SubmittersRCV005016101

NM_001164508.2(NEB):c.17160C>A (p.Tyr5720Ter)

SNV
Germline

Chr2:151570351

Likely pathogenic

Arthrogryposis multiplex congenita 6
Nemaline myopathy 2

Criteria Provided
Single Submitter

1 SubmittersRCV005016104

NM_001164508.2(NEB):c.16705-1G>C

SNV
Germline

Chr2:151576355

Likely pathogenic

Arthrogryposis multiplex congenita 6
Nemaline myopathy 2

Criteria Provided
Single Submitter

1 SubmittersRCV005016105

NM_001164508.2(NEB):c.11601+2T>C

SNV
Germline

Chr2:151614274

Likely pathogenic

Arthrogryposis multiplex congenita 6
Nemaline myopathy 2

Criteria Provided
Single Submitter

1 SubmittersRCV005016107

NM_001164508.2(NEB):c.7170T>A (p.Cys2390Ter)

SNV
Germline

Chr2:151650631

Likely pathogenic

Arthrogryposis multiplex congenita 6
Nemaline myopathy 2

Criteria Provided
Single Submitter

1 SubmittersRCV005016109

NM_001164508.2(NEB):c.6916-2A>C

SNV
Germline

Chr2:151650887

Likely pathogenic

Arthrogryposis multiplex congenita 6
Nemaline myopathy 2

Criteria Provided
Single Submitter

1 SubmittersRCV005016110

NM_001164508.2(NEB):c.6616C>T (p.Gln2206Ter)

SNV
Germline

Chr2:151655903

Likely pathogenic

Arthrogryposis multiplex congenita 6
Nemaline myopathy 2

Criteria Provided
Single Submitter

1 SubmittersRCV005028839

NM_001164508.2(NEB):c.6568G>T (p.Glu2190Ter)

SNV
Germline

Chr2:151655951

Likely pathogenic

Arthrogryposis multiplex congenita 6
Nemaline myopathy 2

Criteria Provided
Single Submitter

1 SubmittersRCV005016112

NM_001164508.2(NEB):c.6487C>T (p.Gln2163Ter)

SNV
Germline

Chr2:151656161

Likely pathogenic

Arthrogryposis multiplex congenita 6
Nemaline myopathy 2

Criteria Provided
Single Submitter

1 SubmittersRCV005016113

NM_001164508.2(NEB):c.5764-1G>A

SNV
Germline

Chr2:151662342

Likely pathogenic

Arthrogryposis multiplex congenita 6
Nemaline myopathy 2

Criteria Provided
Single Submitter

1 SubmittersRCV005028842

NM_001164508.2(NEB):c.5200C>T (p.Gln1734Ter)

SNV
Germline

Chr2:151665371

Likely pathogenic

Arthrogryposis multiplex congenita 6
Nemaline myopathy 2

Criteria Provided
Single Submitter

1 SubmittersRCV005016117

NM_001164508.2(NEB):c.3879+1G>C

SNV
Germline

Chr2:151675286

Likely pathogenic

Arthrogryposis multiplex congenita 6
Nemaline myopathy 2

Criteria Provided
Single Submitter

1 SubmittersRCV005016120

NM_001164508.2(NEB):c.2637+2T>G

SNV
Germline

Chr2:151687417

Likely pathogenic

Arthrogryposis multiplex congenita 6
Nemaline myopathy 2

Criteria Provided
Single Submitter

1 SubmittersRCV005028845

NM_001164508.2(NEB):c.2056G>T (p.Glu686Ter)

SNV
Germline

Chr2:151692109

Likely pathogenic

Arthrogryposis multiplex congenita 6
Nemaline myopathy 2

Criteria Provided
Single Submitter

1 SubmittersRCV005016123

NM_001164508.2(NEB):c.927+1G>C

SNV
Germline

Chr2:151710433

Likely pathogenic

Arthrogryposis multiplex congenita 6
Nemaline myopathy 2

Criteria Provided
Single Submitter

1 SubmittersRCV005028846

NM_001164508.2(NEB):c.835G>T (p.Glu279Ter)

SNV
Germline

Chr2:151710526

Likely pathogenic

Arthrogryposis multiplex congenita 6
Nemaline myopathy 2

Criteria Provided
Single Submitter

1 SubmittersRCV005028847

NM_001164508.2(NEB):c.11290-1G>A

SNV
Germline

Chr2:151614588

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

1 SubmittersRCV005207591

NM_001164508.2(NEB):c.24673-2A>G

SNV
Germline

Chr2:151493447

Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

1 SubmittersRCV005365736

NM_182961.4(SYNE1):c.2806C>T (p.Arg936Ter)

SNV
Germline

Chr6:152455512

Likely pathogenic

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Arthrogryposis multiplex congenita 3, myogenic type

Criteria Provided
Single Submitter

1 SubmittersRCV005356852

NM_182961.4(SYNE1):c.24719G>A (p.Trp8240Ter)

SNV
Germline

Chr6:152148302

Likely pathogenic

Arthrogryposis multiplex congenita 3, myogenic type

Criteria Provided
Single Submitter

1 SubmittersRCV005410354