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	Conflicting classifications of pathogenicity	Schinzel-Giedion syndrome Condition: not provided Arthrogryposis multiplex congenita Fetal akinesia deformation sequence 1 Intellectual disability, autosomal dominant 29 SETBP1-related disorder	Criteria Provided Conflicting Classifications	CA114715	rs_267607038	12 SubmittersRCV000001086 RCV000255245 RCV000855501 RCV001007919 RCV004532268
NM_182961.4(SYNE1):c.24313-2A>G	SNV Germline	Chr6:152151692	Pathogenic	Arthrogryposis multiplex congenita 3, myogenic type	No Assertion Criteria Provided		rs_1586285494	1 SubmittersRCV000002425
NM_001164508.2(NEB):c.1152+1G>A	SNV Germline	Chr2:151706880	Pathogenic	Nemaline myopathy 2 Condition: not provided Nemaline myopathy Arthrogryposis multiplex congenita 6 Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Multiple Submitters No Conflicts	CA222737	rs_398124167	9 SubmittersRCV000174538 RCV000790650 RCV001174709 RCV001449897 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	Gordon syndrome Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome Inborn genetic diseases Fetal akinesia deformation sequence 1 Arthrogryposis multiplex congenita Condition: not provided Gordon syndrome Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome Arthrogryposis, distal, with impaired proprioception and touch	Criteria Provided Multiple Submitters No Conflicts	CA090890	rs_587777450	13 SubmittersRCV000125478 RCV000224805 RCV000623552 RCV000855472 RCV001091982 RCV003224865 RCV003147342
NM_000540.3(RYR1):c.9579C>G (p.Cys3193Trp)	SNV Germline	Chr19:38516111	Conflicting classifications of pathogenicity	Condition: not provided RYR1-related disorder Fetal akinesia deformation sequence 1 Arthrogryposis multiplex congenita Central core myopathy Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA024994	rs_587784379	7 SubmittersRCV000147451 RCV001036190 RCV000855485 RCV001004921 RCV003998165
NM_000540.3(RYR1):c.4405C>T (p.Arg1469Trp)	SNV Germline	Chr19:38477821	Conflicting classifications of pathogenicity	Congenital myopathy Condition: not provided RYR1-related disorder not specified Fetal akinesia deformation sequence 1 Arthrogryposis multiplex congenita Congenital myopathy with fiber type disproportion Neuromuscular disease Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA024441	rs_200546266	15 SubmittersRCV000148819 RCV000520385 RCV000534955 RCV000501380 RCV000855482 RCV001198313 RCV004017422 RCV003998172
NM_001164508.2(NEB):c.21076C>T (p.Arg7026Ter)	SNV Germline	Chr2:151537898	Pathogenic/Likely pathogenic	Non-immune hydrops fetalis Nemaline myopathy 2 Nemaline myopathy Arthrogryposis multiplex congenita 6 Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA199704	rs_769345284	8 SubmittersRCV000170577 RCV000664706 RCV000781653 RCV002478527 RCV003468850
NM_000335.5(SCN5A):c.5210C>T (p.Ser1737Phe)	SNV Germline	Chr3:38551159	Conflicting classifications of pathogenicity	Condition: not provided Arthrogryposis multiplex congenita Fetal akinesia deformation sequence 1 Cardiac arrhythmia	Criteria Provided Conflicting Classifications	CA018989	rs_786205271	5 SubmittersRCV000171697 RCV000855502 RCV001842522
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	Arthrogryposis multiplex congenita Lethal congenital contracture syndrome 9	Criteria Provided Single Submitter	CA200214	rs_793888525	2 SubmittersRCV000172979 RCV000186600
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	Likely pathogenic	Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Multiple Submitters No Conflicts	CA16616822	rs_767302772	2 SubmittersRCV003475836 RCV003514331
NM_001164508.2(NEB):c.19944G>A (p.Ser6648=)	SNV Germline	Chr2:151551738	Pathogenic/Likely pathogenic	Condition: not provided Nemaline myopathy 2 Inborn genetic diseases Nemaline myopathy Arthrogryposis multiplex congenita 6 NEB-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA1907493	rs_201553266	10 SubmittersRCV000224886 RCV000541914 RCV000622763 RCV000780536 RCV001836641 RCV004547569
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 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA10602804	rs_886041851	4 SubmittersRCV000277796 RCV001214721 RCV004527372
NM_001164508.2(NEB):c.24114+1G>A	SNV Germline	Chr2:151499297	Pathogenic/Likely pathogenic	Condition: not provided Nemaline myopathy 2 Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA1906151	rs_755239192	9 SubmittersRCV000387492 RCV000625834 RCV002503971 RCV003469210
NM_001164508.2(NEB):c.20654C>T (p.Ala6885Val)	SNV Germline	Chr2:151541475	Conflicting classifications of pathogenicity	Condition: not provided Nemaline myopathy 2 Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1907204	rs_202209668	9 SubmittersRCV000292919 RCV000535305 RCV002502095 RCV002518819
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 Condition: not provided 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	Criteria Provided Conflicting Classifications	CA4056751	rs_144797744	7 SubmittersRCV000286476 RCV000341441 RCV000713581 RCV000701706 RCV001535685
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 Intellectual disability Arthrogryposis multiplex congenita 3, myogenic type Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant SYNE1-related disorder	Criteria Provided Conflicting Classifications	CA4055383	rs_145899734	15 SubmittersRCV000266512 RCV000321614 RCV000710244 RCV002518932 RCV001252119 RCV001331537 RCV001362101 RCV004535321
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	3 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	Nemaline myopathy 2 Condition: not provided Nemaline myopathy Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA1911959	rs_773952935	7 SubmittersRCV000303625 RCV000414510 RCV001192840 RCV003469243
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	8 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 Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Conflicting Classifications	CA1911541	rs_199710125	5 SubmittersRCV000355760 RCV000691778 RCV002504024
NM_001164508.2(NEB):c.10583G>A (p.Arg3528His)	SNV Germline	Chr2:151619740	Conflicting classifications of pathogenicity	Nemaline myopathy 2 Condition: not provided Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Conflicting Classifications	CA1908984	rs_199584268	6 SubmittersRCV000822266 RCV001753794 RCV002480174
NM_001164508.2(NEB):c.23127+2T>C	SNV Germline	Chr2:151514316	Conflicting classifications of pathogenicity	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Conflicting Classifications	CA10612274	rs_112610938	4 SubmittersRCV000701787 RCV003470318
NM_001164508.2(NEB):c.17462G>A (p.Arg5821His)	SNV Germline	Chr2:151569341	Conflicting classifications of pathogenicity	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Nemaline myopathy 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA1908205	rs_773239926	5 SubmittersRCV000795724 RCV002487462 RCV003129840
NM_001164508.2(NEB):c.4666C>T (p.Pro1556Ser)	SNV Germline	Chr2:151667857	Conflicting classifications of pathogenicity	Nemaline myopathy 2 Condition: not provided Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Conflicting Classifications	CA1910565	rs_756692621	5 SubmittersRCV000688136 RCV003133235 RCV002487463
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 Condition: not provided Arthrogryposis multiplex congenita 3, myogenic type	Criteria Provided Conflicting Classifications	CA4056181	rs_554814659	3 SubmittersRCV000275716 RCV000314518 RCV003137974 RCV004579543
NM_182961.4(SYNE1):c.16831C>T (p.Arg5611Trp)	SNV Germline	Chr6:152310753	Conflicting classifications of pathogenicity	Autosomal recessive myogenic arthrogryposis multiplex congenita Autosomal recessive ataxia, Beauce type Condition: not provided Emery-Dreifuss muscular dystrophy 4, autosomal dominant Inborn genetic diseases Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4055423	rs_369292604	8 SubmittersRCV000785033 RCV000785031 RCV000713609 RCV000785032 RCV002520410 RCV001850885
NM_006757.4(TNNT3):c.68-14C>T	SNV Germline	Chr11:1926681	Conflicting classifications of pathogenicity	Arthrogryposis multiplex congenita Arthrogryposis multiplex congenita distal Condition: not provided	Criteria Provided Conflicting Classifications	CA5816218	rs_202175253	2 SubmittersRCV000353956 RCV000306102 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	Criteria Provided Multiple Submitters No Conflicts	CA16040851	rs_1057516996	4 SubmittersRCV000412054 RCV001420895 RCV003463800
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 Unknown	Chr2:151688290	Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA16040855	rs_1057517399	2 SubmittersRCV000411510 RCV004567890
NM_001164508.2(NEB):c.412C>T (p.Arg138Ter)	SNV Germline	Chr2:151724952	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	CA16040858	rs_1057517360	7 SubmittersRCV000411613 RCV001796023 RCV004567889 RCV002488842
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	Condition: not provided Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA16042419	rs_1057517977	5 SubmittersRCV000413859 RCV000667230 RCV003470361
NM_001164508.2(NEB):c.23989C>T (p.Arg7997Ter)	SNV Germline	Chr2:151501423	Pathogenic/Likely pathogenic	Progressive proximal muscle weakness Limb pain Muscular dystrophy Condition: not provided Nemaline myopathy 2 Nemaline myopathy Arthrogryposis multiplex congenita 6 NEB-related disorder Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA1906173	rs_549794342	17 SubmittersRCV000414803 RCV000416049 RCV000576327 RCV003155176 RCV003476003 RCV004551415 RCV002480270
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	Criteria Provided Conflicting Classifications	CA1906270	rs_545937015	6 SubmittersRCV000416472 RCV001195395 RCV001782898 RCV003476005
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	Criteria Provided Conflicting Classifications	CA1907121	rs_150874422	6 SubmittersRCV000425742 RCV000550442 RCV002506082 RCV004551506
NM_001164508.2(NEB):c.9619-2A>G	SNV Germline	Chr2:151630821	Pathogenic/Likely pathogenic	Condition: not provided Nemaline myopathy 2 Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA1909252	rs_375145370	8 SubmittersRCV000444827 RCV000528659 RCV002480289
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 Fetal akinesia deformation sequence 1 Arthrogryposis multiplex congenita Adult polyglucosan body disease Glycogen storage disease IV, classic hepatic Glycogen storage disease, type IV Glycogen storage disease, type IV not specified	Criteria Provided Conflicting Classifications	CA2499591	rs_552094593	7 SubmittersRCV000487962 RCV000855462 RCV001329659 RCV002528222 RCV001829394 RCV003330722
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 not specified	Criteria Provided Conflicting Classifications	CA1906977	rs_148950085	7 SubmittersRCV000493255 RCV001086213 RCV003470617 RCV003230521
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	7 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.22590+2T>C	SNV Germline	Chr2:151519656	Conflicting classifications of pathogenicity	Condition: not provided Nemaline myopathy 2 Nemaline myopathy Arthrogryposis multiplex congenita 6	Criteria Provided Conflicting Classifications	CA1906606	rs_200449517	10 SubmittersRCV000521210 RCV000666422 RCV002282198 RCV003470655
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 Arthrogryposis multiplex congenita 6 Nemaline myopathy	Criteria Provided Multiple Submitters No Conflicts	CA1908708	rs_776569219	6 SubmittersRCV000529040 RCV000521697 RCV003476222 RCV003993996
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	9 SubmittersRCV000519006 RCV000536181 RCV001192838 RCV003470651
NM_181789.4(GLDN):c.1428C>A (p.Phe476Leu)	SNV Germline	Chr15:51404526	Likely pathogenic	Condition: not provided Fetal akinesia deformation sequence 1 Arthrogryposis multiplex congenita	Criteria Provided Multiple Submitters No Conflicts	CA7560758	rs_750803388	2 SubmittersRCV000524042 RCV000855464
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 Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Conflicting Classifications	CA1910237	rs_375412223	6 SubmittersRCV000529425 RCV003129901 RCV002506339
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	Criteria Provided Conflicting Classifications	CA658683265	rs_1553715636	4 SubmittersRCV000579107 RCV001834828 RCV002250662
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 Nemaline myopathy 2 Condition: not provided Arthrogryposis multiplex congenita 6 Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA16021311	rs_763364977	9 SubmittersRCV000586673 RCV000763063 RCV001783093 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	5 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 Congenital myasthenic syndrome 11 Fetal akinesia deformation sequence 1 Fetal akinesia deformation sequence 2	Criteria Provided Conflicting Classifications	CA5976768	rs_375218091	4 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	Arthrogryposis multiplex congenita 6	No Assertion Criteria Provided	CA348787368	rs_1336053002	1 SubmittersRCV000611131
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 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA1905995	rs_202048855	8 SubmittersRCV000623853 RCV000820159 RCV002506517 RCV003153763 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	Conflicting classifications of pathogenicity	Nemaline myopathy 2 Condition: not provided not specified Arthrogryposis multiplex congenita 6	Criteria Provided Conflicting Classifications	CA348825220	rs_1255744452	6 SubmittersRCV000641321 RCV003148813 RCV003488752 RCV003472031
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		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		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		rs_113525641	5 SubmittersRCV000667580 RCV001584536 RCV002507159 RCV004568511
NM_001164508.2(NEB):c.19101+5G>A	SNV Germline	Chr2:151561203	Conflicting classifications of pathogenicity	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Conflicting Classifications		rs_374929094	5 SubmittersRCV000673418 RCV003465527
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		rs_539819851	4 SubmittersRCV000668686 RCV003233799 RCV003472105
NM_001164508.2(NEB):c.25057+1G>A	SNV Germline	Chr2:151492097	Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts		rs_1191429915	3 SubmittersRCV000667178 RCV003465466
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		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		rs_1218073575	4 SubmittersRCV000668980 RCV004568519
NM_001164508.2(NEB):c.11076+1G>A	SNV Unknown	Chr2:151618274	Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts		rs_1460365350	2 SubmittersRCV000667252 RCV003465471
NM_001164508.2(NEB):c.24212T>A (p.Leu8071Ter)	SNV Germline	Chr2:151497714	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts		rs_756726488	3 SubmittersRCV000667053 RCV004568506
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		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	Criteria Provided Multiple Submitters No Conflicts		rs_1011425121	3 SubmittersRCV000674962 RCV003472177
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		rs_1011425121	3 SubmittersRCV000673508 RCV003472157
NM_001164508.2(NEB):c.24022-1G>A	SNV Germline	Chr2:151499391	Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts		rs_1553561697	3 SubmittersRCV000668888 RCV003465486
NM_001164508.2(NEB):c.22489C>T (p.Arg7497Ter)	SNV Germline	Chr2:151519759	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Nemaline myopathy Condition: not provided Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts		rs_760935667	9 SubmittersRCV000672682 RCV000781656 RCV001784275 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		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		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		rs_757157808	3 SubmittersRCV000665581 RCV003472071
NM_001164508.2(NEB):c.18981C>G (p.Tyr6327Ter)	SNV Germline	Chr2:151562125	Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter		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		rs_1443738549	7 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		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 Multiple Submitters No Conflicts		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		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 Arthrogryposis multiplex congenita 6	Criteria Provided Conflicting Classifications		rs_797045736	5 SubmittersRCV000671466 RCV001784269 RCV003472138
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		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		rs_1553603437	4 SubmittersRCV000664673 RCV003472066
NM_001164508.2(NEB):c.18676C>T (p.Gln6226Ter)	SNV Germline	Chr2:151563623	Pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Nemaline myopathy 2 Nemaline myopathy	Criteria Provided Multiple Submitters No Conflicts		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 Condition: not provided Inborn genetic diseases Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts		rs_749452641	6 SubmittersRCV000674087 RCV001194218 RCV003325512 RCV003243248 RCV003472164
NM_001164508.2(NEB):c.11181+2T>C	SNV Unknown	Chr2:151617362	Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts		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	Criteria Provided Multiple Submitters No Conflicts		rs_754369875	3 SubmittersRCV000668497 RCV003472100
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		rs_112517981	3 SubmittersRCV000669059 RCV003472110
NM_001164508.2(NEB):c.11910+1G>A	SNV Germline	Chr2:151610761	Conflicting classifications of pathogenicity	Nemaline myopathy 2 Condition: not provided Arthrogryposis multiplex congenita 6	Criteria Provided Conflicting Classifications		rs_774495973	5 SubmittersRCV000667256 RCV003133493 RCV004568509
NM_001164508.2(NEB):c.37-1G>A	SNV Germline	Chr2:151729657	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts		rs_1428597732	4 SubmittersRCV000667927 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		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		rs_113091511	4 SubmittersRCV000667067 RCV001255511 RCV003465461
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		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 Arthrogryposis multiplex congenita 6	Criteria Provided Conflicting Classifications		rs_1553605553	4 SubmittersRCV000667222 RCV001784247 RCV003465470
NM_001164508.2(NEB):c.6076-1G>T	SNV Germline	Chr2:151658091	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts		rs_1553469502	3 SubmittersRCV000668960 RCV003465487
NM_001164508.2(NEB):c.1365+2T>C	SNV Germline	Chr2:151697348	Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts		rs_770797137	4 SubmittersRCV000667221 RCV004568507
NM_001164508.2(NEB):c.3567+1G>C	SNV Unknown	Chr2:151677875	Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts		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		rs_1553608621	3 SubmittersRCV000667220 RCV003465469
NM_001164508.2(NEB):c.5763+5G>A	SNV Germline	Chr2:151663543	Conflicting classifications of pathogenicity	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Conflicting Classifications		rs_776167256	3 SubmittersRCV000667575 RCV004568510
NM_001164508.2(NEB):c.3874A>G (p.Ser1292Gly)	SNV Germline	Chr2:151675292	Conflicting classifications of pathogenicity	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Conflicting Classifications		rs_1553521537	3 SubmittersRCV000667109 RCV003465463
NM_001164508.2(NEB):c.3255+1G>C	SNV Germline	Chr2:151679720	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts		rs_375628303	3 SubmittersRCV000668568 RCV003459598
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	Criteria Provided Multiple Submitters No Conflicts		rs_778593702	8 SubmittersRCV000667209 RCV000781651 RCV001784246 RCV003465467 RCV004547838
NM_001164508.2(NEB):c.1153-2A>G	SNV Germline	Chr2:151697650	Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts		rs_1553609515	3 SubmittersRCV000667210 RCV003465468
NM_000113.3(TOR1A):c.862C>T (p.Arg288Ter)	SNV Germline	Chr9:129814109	Pathogenic/Likely pathogenic	Early-onset generalized limb-onset dystonia Arthrogryposis multiplex congenita 5 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_760768475	9 SubmittersRCV000677723 RCV001250912 RCV001592856
NM_001164508.2(NEB):c.23986G>A (p.Glu7996Lys)	SNV Germline	Chr2:151501426	Conflicting classifications of pathogenicity	Nemaline myopathy 2 Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Condition: not provided	Criteria Provided Conflicting Classifications		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		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 Arthrogryposis multiplex congenita 6 Nemaline myopathy 2 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_751494785	5 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 Inborn genetic diseases Arthrogryposis multiplex congenita 6	Criteria Provided Conflicting Classifications		rs_546869744	6 SubmittersRCV000691938 RCV001756183 RCV002544927 RCV003447553
NM_001164508.2(NEB):c.5364G>A (p.Trp1788Ter)	SNV Germline	Chr2:151664588	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts		rs_201636991	2 SubmittersRCV000703915 RCV003465629
NM_001164508.2(NEB):c.22170C>G (p.Tyr7390Ter)	SNV Germline	Chr2:151525265	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		rs_748922882	5 SubmittersRCV000701148 RCV000781648 RCV002499258 RCV003465616
NM_001164508.2(NEB):c.21970A>C (p.Lys7324Gln)	SNV Germline	Chr2:151526238	Conflicting classifications of pathogenicity	Nemaline myopathy 2 Condition: not provided Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Conflicting Classifications		rs_756646859	4 SubmittersRCV000704917 RCV002286785 RCV002477626
NM_139284.3(LGI4):c.2T>C (p.Met1Thr)	SNV Germline	Chr19:35134679	Pathogenic	Arthrogryposis multiplex congenita 2, neurogenic type	Criteria Provided Single Submitter		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		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 Condition: not provided Fetal akinesia deformation sequence 1 Arthrogryposis multiplex congenita Short stature	Criteria Provided Conflicting Classifications		rs_117134265	5 SubmittersRCV000732649 RCV000903196 RCV000855500 RCV001310261
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 Fetal akinesia deformation sequence 1 Arthrogryposis multiplex congenita Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_747595523	7 SubmittersRCV000791458 RCV001004046 RCV000855457 RCV001796204
NM_001164508.2(NEB):c.19030C>T (p.Gln6344Ter)	SNV Germline	Chr2:151561279	Conflicting classifications of pathogenicity	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Conflicting Classifications		rs_1559940778	3 SubmittersRCV000778566 RCV003465706
NM_001378183.1(PIEZO2):c.1384C>T (p.Arg462Ter)	SNV Germline	Chr18:10797517	Pathogenic	Arthrogryposis, distal, with impaired proprioception and touch Fetal akinesia deformation sequence 1 Arthrogryposis multiplex congenita	Criteria Provided Single Submitter		rs_1568069621	2 SubmittersRCV000779589 RCV000855470
NM_001164508.2(NEB):c.25136T>G (p.Leu8379Ter)	SNV Germline	Chr2:151491697	Pathogenic	Nemaline myopathy 2 Nemaline myopathy Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts		rs_760200697	4 SubmittersRCV001214341 RCV000781652 RCV004569492
NM_001164508.2(NEB):c.21793C>T (p.Arg7265Ter)	SNV Germline	Chr2:151527528	Pathogenic/Likely pathogenic	Nemaline myopathy Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Multiple Submitters No Conflicts		rs_750900690	3 SubmittersRCV000780533 RCV003467310 RCV001869153
NM_182961.4(SYNE1):c.26236C>T (p.Arg8746Ter)	SNV Germline	Chr6:152122594	Pathogenic	Arthrogryposis multiplex congenita 3, myogenic type	Criteria Provided Single Submitter		rs_746177326	2 SubmittersRCV000787309
NM_001164508.2(NEB):c.24650G>A (p.Arg8217His)	SNV Germline	Chr2:151493797	Conflicting classifications of pathogenicity	Nemaline myopathy 2 Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Condition: not provided	Criteria Provided Conflicting Classifications		rs_201291446	5 SubmittersRCV000822717 RCV002501141 RCV003130076
NM_001164508.2(NEB):c.24579G>C (p.Ser8193=)	SNV Germline	Chr2:151494161	Pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts		rs_202048855	3 SubmittersRCV000814228 RCV003472421
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		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		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 Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Conflicting Classifications		rs_374606967	6 SubmittersRCV000801391 RCV002222638 RCV002507387
NM_001164508.2(NEB):c.8381A>T (p.Tyr2794Phe)	SNV Germline	Chr2:151640659	Conflicting classifications of pathogenicity	Nemaline myopathy 2 not specified Arthrogryposis multiplex congenita 6 Nemaline myopathy 2 Condition: not provided Arthrogryposis multiplex congenita 6	Criteria Provided Conflicting Classifications		rs_750548574	6 SubmittersRCV000810643 RCV001731939 RCV002507410 RCV003130061 RCV003467443
NM_001164508.2(NEB):c.6481C>T (p.Arg2161Cys)	SNV Germline	Chr2:151656167	Conflicting classifications of pathogenicity	Nemaline myopathy 2 Condition: not provided Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Conflicting Classifications		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		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		rs_750585238	2 SubmittersRCV000807407 RCV003467420
NM_015378.4(VPS13D):c.4243G>A (p.Asp1415Asn)	SNV Germline	Chr1:12277831	Conflicting classifications of pathogenicity	Arthrogryposis multiplex congenita Fetal akinesia deformation sequence 1 Condition: not provided VPS13D-related disorder	Criteria Provided Conflicting Classifications		rs_79282181	4 SubmittersRCV000855522 RCV002064422 RCV003908141
NM_005807.6(PRG4):c.3569G>A (p.Gly1190Asp)	SNV Germline	Chr1:186311103	Conflicting classifications of pathogenicity	Arthrogryposis multiplex congenita Fetal akinesia deformation sequence 1 PRG4-related disorder	Criteria Provided Conflicting Classifications		rs_150072104	2 SubmittersRCV000855497 RCV003938204
NM_018136.5(ASPM):c.2863C>T (p.Gln955Ter)	SNV Germline	Chr1:197128563	Pathogenic	Fetal akinesia deformation sequence 1 Arthrogryposis multiplex congenita Condition: not provided Microcephaly 5, primary, autosomal recessive	Criteria Provided Multiple Submitters No Conflicts		rs_774338373	3 SubmittersRCV000855491 RCV001816923 RCV003453775
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		rs_1057521117	2 SubmittersRCV000855456 RCV003517274
NM_000751.3(CHRND):c.452G>C (p.Cys151Ser)	SNV Germline	Chr2:232528599	Likely pathogenic	Arthrogryposis multiplex congenita Fetal akinesia deformation sequence 1	Criteria Provided Single Submitter		rs_1574630583	1 SubmittersRCV000855459
NM_001384125.1(BLTP1):c.3926G>A (p.Arg1309Gln)	SNV Unknown	Chr4:122239608	Likely pathogenic	Arthrogryposis multiplex congenita Fetal akinesia deformation sequence 1	Criteria Provided Single Submitter		rs_1460624416	1 SubmittersRCV000855516
NM_001384125.1(BLTP1):c.12154T>C (p.Tyr4052His)	SNV Unknown	Chr4:122336233	Likely pathogenic	Arthrogryposis multiplex congenita Fetal akinesia deformation sequence 1	Criteria Provided Single Submitter		rs_777407076	1 SubmittersRCV000855517
NM_177924.5(ASAH1):c.491G>T (p.Gly164Val)	SNV Germline	Chr8:18063197	Conflicting classifications of pathogenicity	Arthrogryposis multiplex congenita Fetal akinesia deformation sequence 1 Condition: not provided	Criteria Provided Conflicting Classifications		rs_1588980220	2 SubmittersRCV000855490 RCV002536200
NM_177924.5(ASAH1):c.88G>A (p.Asp30Asn)	SNV Germline	Chr8:18075578	Conflicting classifications of pathogenicity	Condition: not provided Farber lipogranulomatosis Fetal akinesia deformation sequence 1 Arthrogryposis multiplex congenita	Criteria Provided Conflicting Classifications		rs_200758704	4 SubmittersRCV000983934 RCV001164025 RCV000855489
NM_005055.5(RAPSN):c.794C>T (p.Ala265Val)	SNV Germline	Chr11:47441729	Likely pathogenic	Arthrogryposis multiplex congenita Fetal akinesia deformation sequence 1	Criteria Provided Single Submitter		rs_1040279711	1 SubmittersRCV000855474
NM_001330260.2(SCN8A):c.719T>C (p.Ile240Thr)	SNV Germline	Chr12:51699582	Likely pathogenic	Arthrogryposis multiplex congenita Fetal akinesia deformation sequence 1 Developmental and epileptic encephalopathy, 13	Criteria Provided Multiple Submitters No Conflicts		rs_1592387849	2 SubmittersRCV000855503 RCV001775152
NM_052867.4(NALCN):c.1783G>T (p.Val595Phe)	SNV Germline	Chr13:101176356	Likely pathogenic	Arthrogryposis multiplex congenita Fetal akinesia deformation sequence 1	Criteria Provided Single Submitter		rs_1594368753	1 SubmittersRCV000855468
NM_052867.4(NALCN):c.950T>G (p.Phe317Cys)	SNV Germline	Chr13:101292087	Likely pathogenic	Arthrogryposis multiplex congenita Fetal akinesia deformation sequence 1	Criteria Provided Single Submitter		rs_1594616249	1 SubmittersRCV000855467
NM_052867.4(NALCN):c.191A>G (p.Tyr64Cys)	SNV Unknown	Chr13:101395283	Likely pathogenic	Arthrogryposis multiplex congenita Fetal akinesia deformation sequence 1	Criteria Provided Single Submitter		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		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		rs_1595633027	2 SubmittersRCV000855523 RCV001367404
NM_001083614.2(EARS2):c.814G>A (p.Ala272Thr)	SNV Germline	Chr16:23535032	Likely pathogenic	Arthrogryposis multiplex congenita Fetal akinesia deformation sequence 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_749912939	3 SubmittersRCV000855494 RCV001310323
NM_003632.3(CNTNAP1):c.69C>G (p.Tyr23Ter)	SNV Germline	Chr17:42683822	Pathogenic	Arthrogryposis multiplex congenita Fetal akinesia deformation sequence 1	Criteria Provided Single Submitter		rs_1597802927	1 SubmittersRCV000855460
NM_003632.3(CNTNAP1):c.1906G>A (p.Val636Met)	SNV Germline	Chr17:42690789	Likely pathogenic	Arthrogryposis multiplex congenita Fetal akinesia deformation sequence 1	Criteria Provided Single Submitter		rs_1597807901	1 SubmittersRCV000855461
NM_000334.4(SCN4A):c.2018T>C (p.Leu673Pro)	SNV Unknown	Chr17:63959266	Likely pathogenic	Arthrogryposis multiplex congenita Fetal akinesia deformation sequence 1	Criteria Provided Single Submitter		rs_1597978607	1 SubmittersRCV000855486
NM_001378183.1(PIEZO2):c.911A>G (p.Tyr304Cys)	SNV Unknown	Chr18:10855359	Conflicting classifications of pathogenicity	Arthrogryposis multiplex congenita Fetal akinesia deformation sequence 1 Arthrogryposis, distal, with impaired proprioception and touch	Criteria Provided Conflicting Classifications		rs_773449118	2 SubmittersRCV000855471 RCV003147564
NM_139284.3(LGI4):c.1031T>A (p.Leu344Gln)	SNV Germline	Chr19:35126538	Likely pathogenic	Arthrogryposis multiplex congenita Fetal akinesia deformation sequence 1	Criteria Provided Single Submitter		rs_1201430967	1 SubmittersRCV000855466
NM_139284.3(LGI4):c.504G>C (p.Trp168Cys)	SNV Germline	Chr19:35131510	Likely pathogenic	Arthrogryposis multiplex congenita Fetal akinesia deformation sequence 1	Criteria Provided Single Submitter		rs_201728190	1 SubmittersRCV000855465
NM_000540.3(RYR1):c.1835C>A (p.Ala612Asp)	SNV Unknown	Chr19:38457540	Likely pathogenic	Arthrogryposis multiplex congenita Fetal akinesia deformation sequence 1	Criteria Provided Single Submitter		rs_1600682739	1 SubmittersRCV000855481
NM_000540.3(RYR1):c.2167G>A (p.Gly723Arg)	SNV Unknown	Chr19:38458292	Likely pathogenic	Arthrogryposis multiplex congenita Fetal akinesia deformation sequence 1	Criteria Provided Single Submitter		rs_755496104	1 SubmittersRCV000855475
NM_000540.3(RYR1):c.7298T>C (p.Leu2433Pro)	SNV Germline	Chr19:38499991	Conflicting classifications of pathogenicity	Arthrogryposis multiplex congenita Fetal akinesia deformation sequence 1 Condition: not provided RYR1-related disorder	Criteria Provided Conflicting Classifications		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	Criteria Provided Single Submitter		rs_1600843056	1 SubmittersRCV000855478
NM_000540.3(RYR1):c.10018G>A (p.Val3340Met)	SNV Unknown	Chr19:38517691	Likely pathogenic	Arthrogryposis multiplex congenita Fetal akinesia deformation sequence 1	Criteria Provided Single Submitter		rs_1600892115	1 SubmittersRCV000855480
NM_000540.3(RYR1):c.13998G>A (p.Lys4666=)	SNV Unknown	Chr19:38572270	Likely pathogenic	Arthrogryposis multiplex congenita Fetal akinesia deformation sequence 1	Criteria Provided Single Submitter		rs_1599649479	1 SubmittersRCV000855483
NM_001001344.3(ATP2B3):c.197C>T (p.Ser66Leu)	SNV Germline	ChrX:153536444	Likely pathogenic	Arthrogryposis multiplex congenita Fetal akinesia deformation sequence 1	Criteria Provided Single Submitter		rs_1603040061	1 SubmittersRCV000855493
NM_001164508.2(NEB):c.23140C>T (p.Arg7714Ter)	SNV Germline	Chr2:151513681	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Nemaline myopathy Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts		rs_1575714905	4 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		rs_1576203853	3 SubmittersRCV000986834 RCV004569829
NM_001164508.2(NEB):c.10612C>T (p.Arg3538Ter)	SNV Germline	Chr2:151619711	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts		rs_779909544	3 SubmittersRCV000986840 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		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		rs_1212374733	4 SubmittersRCV001004942 RCV003467576 RCV004553551
NM_001164508.2(NEB):c.24988C>T (p.Arg8330Ter)	SNV Germline	Chr2:151492167	Pathogenic	Nemaline myopathy 2 Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Condition: not provided Arthrogryposis multiplex congenita 6 Nemaline myopathy	Criteria Provided Multiple Submitters No Conflicts		rs_767709270	6 SubmittersRCV001007837 RCV002497328 RCV003141928 RCV003473553 RCV003117687
NM_001164508.2(NEB):c.12330+2T>C	SNV Germline	Chr2:151609807	Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter		rs_1374971806	2 SubmittersRCV001027690 RCV003467698
NM_001164508.2(NEB):c.7964A>G (p.Tyr2655Cys)	SNV Germline	Chr2:151643346	Conflicting classifications of pathogenicity	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Conflicting Classifications		rs_1389374032	2 SubmittersRCV001044618 RCV003467734
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		rs_747729019	3 SubmittersRCV001049602 RCV002481951
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		rs_2097758221	2 SubmittersRCV001048805 RCV003462542
NM_001164508.2(NEB):c.17118+1G>A	SNV Germline	Chr2:151570496	Pathogenic	Nemaline myopathy 2 Condition: not provided Nemaline myopathy Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Multiple Submitters No Conflicts		rs_747946275	5 SubmittersRCV001043979 RCV001784590 RCV001824918 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		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		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 Condition: not provided Arthrogryposis multiplex congenita 6 Nemaline myopathy 2 not specified	Criteria Provided Conflicting Classifications		rs_556930902	8 SubmittersRCV001134806 RCV001508087 RCV002491403 RCV003331049
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	Criteria Provided Conflicting Classifications		rs_767493706	5 SubmittersRCV001135461 RCV002491404 RCV003438662
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		rs_555582398	7 SubmittersRCV001175588 RCV001222350 RCV001580057 RCV004570330
NM_001164508.2(NEB):c.9775C>T (p.Arg3259Ter)	SNV Germline	Chr2:151629595	Pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts		rs_1301228529	2 SubmittersRCV001222507 RCV003469384
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		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		rs_1032240985	2 SubmittersRCV001235353 RCV003469430
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		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 Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Condition: not provided	Criteria Provided Conflicting Classifications		rs_185999504	4 SubmittersRCV001247714 RCV002504365 RCV003132352
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		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		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		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		rs_398124167	4 SubmittersRCV001251277 RCV001830055 RCV003469483
NM_001384125.1(BLTP1):c.3323+1G>A	SNV Germline	Chr4:122230212	Likely pathogenic	Clubfoot Arthrogryposis multiplex congenita Severe hydrocephalus	Criteria Provided Single Submitter		rs_775292946	1 SubmittersRCV001257375
NM_001164508.2(NEB):c.20033G>A (p.Arg6678His)	SNV Germline	Chr2:151549652	Conflicting classifications of pathogenicity	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Nemaline myopathy 2 Inborn genetic diseases	Criteria Provided Conflicting Classifications		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		rs_368150737	6 SubmittersRCV001317075 RCV002493656 RCV003132405 RCV004034411
NM_001164508.2(NEB):c.20132G>A (p.Arg6711Gln)	SNV Germline	Chr2:151548333	Conflicting classifications of pathogenicity	Nemaline myopathy 2 Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Condition: not provided	Criteria Provided Conflicting Classifications		rs_781250495	4 SubmittersRCV001337749 RCV002504528 RCV003130477
NM_001164508.2(NEB):c.18472-1G>C	SNV Germline	Chr2:151563931	Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Nemaline myopathy	Criteria Provided Multiple Submitters No Conflicts		rs_1203257517	5 SubmittersRCV001377790 RCV002504630 RCV003473906 RCV002307737
NM_001164508.2(NEB):c.12330+5G>A	SNV Germline	Chr2:151609804	Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts		rs_763163879	2 SubmittersRCV001378886 RCV003469637
NM_001164508.2(NEB):c.10144-2A>G	SNV Germline	Chr2:151627207	Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts		rs_1435980710	2 SubmittersRCV001377109 RCV003469622
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		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		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		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		rs_767693366	2 SubmittersRCV001378539 RCV003473910
NM_001164508.2(NEB):c.19156G>T (p.Glu6386Ter)	SNV Germline	Chr2:151561054	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Nemaline myopathy	Criteria Provided Multiple Submitters No Conflicts		rs_2153702280	3 SubmittersRCV001383444 RCV003469696 RCV002282537
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		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		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		rs_2153939368	2 SubmittersRCV001386832 RCV003469724
NM_001164508.2(NEB):c.8803C>T (p.Gln2935Ter)	SNV Germline	Chr2:151639943	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts		rs_1351747266	2 SubmittersRCV001387965 RCV004570966
NM_001164508.2(NEB):c.3601A>T (p.Lys1201Ter)	SNV Germline	Chr2:151677738	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts		rs_748453057	2 SubmittersRCV001389858 RCV003473993
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		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		rs_374874999	1 SubmittersRCV001449899
NM_001164508.2(NEB):c.19102-1G>T	SNV Germline	Chr2:151561109	Pathogenic	Arthrogryposis multiplex congenita 6	No Assertion Criteria Provided		rs_2153702473	1 SubmittersRCV001449901
NM_001164508.2(NEB):c.11719C>T (p.Gln3907Ter)	SNV Germline	Chr2:151612272	Pathogenic/Likely pathogenic	Condition: not provided Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts		rs_377182240	3 SubmittersRCV001508086 RCV002564229 RCV003470847
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		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		rs_2065139570	1 SubmittersRCV001844373
NM_001164508.2(NEB):c.24946C>T (p.Arg8316Ter)	SNV Germline	Chr2:151492209	Pathogenic/Likely pathogenic	Condition: not provided Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts		rs_758327681	3 SubmittersRCV001784725 RCV001885165 RCV003470907
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		rs_140614229	4 SubmittersRCV001782382 RCV002541202 RCV002541201
NM_001164508.2(NEB):c.19836+1G>A	SNV Germline	Chr2:151552671	Pathogenic/Likely pathogenic	Condition: not provided Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts		rs_1446930968	4 SubmittersRCV001782508 RCV001868865 RCV003470913
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		rs_1562922141	1 SubmittersRCV001813905
NM_001164508.2(NEB):c.7345C>T (p.Gln2449Ter)	SNV Germline	Chr2:151650262	Likely pathogenic	Nemaline myopathy 2 Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts		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		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		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		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		rs_2154175437	3 SubmittersRCV001946731 RCV004571728
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		rs_1433028646	2 SubmittersRCV001949648 RCV003471192
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		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	Criteria Provided Multiple Submitters No Conflicts		rs_778104284	2 SubmittersRCV001960729 RCV003475221
NM_001164508.2(NEB):c.25129C>T (p.Arg8377Ter)	SNV Germline	Chr2:151491704	Pathogenic	Nemaline myopathy 2 Condition: not provided Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts		rs_777232352	3 SubmittersRCV001870159 RCV002511103 RCV003475120
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		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		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	Criteria Provided Multiple Submitters No Conflicts		rs_949331605	2 SubmittersRCV002025272 RCV003471226
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 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts		rs_2154175371	4 SubmittersRCV001956264 RCV002507704 RCV004571745
NM_001164508.2(NEB):c.295-2A>G	SNV Germline	Chr2:151725562	Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts		rs_1428300892	2 SubmittersRCV001992292 RCV003475280
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		rs_2153657682	2 SubmittersRCV001987212 RCV003471084
NM_182961.4(SYNE1):c.24600C>T (p.Phe8200=)	SNV Germline	Chr6:152149519	Conflicting classifications of pathogenicity	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 Autosomal recessive ataxia, Beauce type Condition: not provided	Criteria Provided Conflicting Classifications		rs_370421580	4 SubmittersRCV002114824 RCV002508088 RCV003434439
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		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			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			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			2 SubmittersRCV002306961 RCV004572232
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			2 SubmittersRCV003078939 RCV003448477
NM_001164508.2(NEB):c.2079C>A (p.Cys693Ter)	SNV Germline	Chr2:151692086	Conflicting classifications of pathogenicity	Nemaline myopathy Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Conflicting Classifications			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			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			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			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			2 SubmittersRCV002634728 RCV003465799
NM_001164508.2(NEB):c.12162G>A (p.Trp4054Ter)	SNV Germline	Chr2:151609977	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV002705678 RCV004571212
NM_001164508.2(NEB):c.22375-1G>C	SNV Germline	Chr2:151524416	Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV002861794 RCV003475440
NM_001164508.2(NEB):c.17756G>A (p.Trp5919Ter)	SNV Germline	Chr2:151568159	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003047388 RCV003475478
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			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			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			1 SubmittersRCV003226605
NM_001164508.2(NEB):c.9102+1G>C	SNV Germline	Chr2:151636226	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter		rs_143644938	1 SubmittersRCV003228233
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			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			1 SubmittersRCV003340971
NM_001164508.2(NEB):c.6496-1G>A	SNV Unknown	Chr2:151656024	Pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter			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			1 SubmittersRCV003471403
NM_001164508.2(NEB):c.23452-1G>A	SNV Unknown	Chr2:151507014	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter			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			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			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			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			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			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			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			1 SubmittersRCV003471413
NM_001164508.2(NEB):c.20578-1G>C	SNV Unknown	Chr2:151541552	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter			1 SubmittersRCV003476531
NM_001164508.2(NEB):c.21630+2T>C	SNV Unknown	Chr2:151530992	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter			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			1 SubmittersRCV003471415
NM_001164508.2(NEB):c.24579+1G>C	SNV Unknown	Chr2:151494160	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter			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			1 SubmittersRCV003471418
NM_001164508.2(NEB):c.1365+1G>A	SNV Unknown	Chr2:151697349	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter			1 SubmittersRCV003471419
NM_001164508.2(NEB):c.11911-2A>G	SNV Unknown	Chr2:151610625	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter			1 SubmittersRCV003476535
NM_001164508.2(NEB):c.25404+1G>A	SNV Unknown	Chr2:151489970	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter			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			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			1 SubmittersRCV003471423
NM_001164508.2(NEB):c.12220C>T (p.Gln4074Ter)	SNV Germline	Chr2:151609919	Pathogenic/Likely pathogenic	Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003471425 RCV003629280
NM_001164508.2(NEB):c.17737-1G>A	SNV Unknown	Chr2:151568179	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter			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			1 SubmittersRCV003471428
NM_001164508.2(NEB):c.11289+1G>A	SNV Unknown	Chr2:151616001	Pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter			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			1 SubmittersRCV003471430
NM_001164508.2(NEB):c.3390T>G (p.Tyr1130Ter)	SNV Germline	Chr2:151678053	Pathogenic/Likely pathogenic	Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003471432 RCV003514645
NM_001164508.2(NEB):c.25151-2A>G	SNV Unknown	Chr2:151490520	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter			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			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			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			1 SubmittersRCV003476546
NM_001164508.2(NEB):c.8890-2A>G	SNV Unknown	Chr2:151639386	Pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter			1 SubmittersRCV003471436
NM_001164508.2(NEB):c.1871T>A (p.Leu624Ter)	SNV Unknown	Chr2:151694348	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter			1 SubmittersRCV003476547
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			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			1 SubmittersRCV003476551
NM_001164508.2(NEB):c.10560+1G>C	SNV Unknown	Chr2:151620918	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter			1 SubmittersRCV003476554
NM_001164508.2(NEB):c.22051-2A>C	SNV Unknown	Chr2:151526070	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter			1 SubmittersRCV003476556
NM_001164508.2(NEB):c.7093G>T (p.Gly2365Ter)	SNV Germline	Chr2:151650708	Pathogenic/Likely pathogenic	Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003476557 RCV003629281
NM_001164508.2(NEB):c.12853C>T (p.Gln4285Ter)	SNV Unknown	Chr2:151604766	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter			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			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			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			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			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			1 SubmittersRCV003476566
NM_001164508.2(NEB):c.22695+1G>A	SNV Unknown	Chr2:151518964	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter			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			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			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			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			1 SubmittersRCV003471462
NM_001164508.2(NEB):c.1036-1G>A	SNV Unknown	Chr2:151706998	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter			1 SubmittersRCV003471463
NM_001164508.2(NEB):c.24579+1G>A	SNV Unknown	Chr2:151494160	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter			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			1 SubmittersRCV003476574
NM_001164508.2(NEB):c.17457G>A (p.Trp5819Ter)	SNV Unknown	Chr2:151569346	Pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter			1 SubmittersRCV003476575
NM_001164508.2(NEB):c.5451+1G>A	SNV Unknown	Chr2:151664500	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter			1 SubmittersRCV003471466
NM_001164508.2(NEB):c.13252C>T (p.Gln4418Ter)	SNV Unknown	Chr2:151603580	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter			1 SubmittersRCV003471468
NM_001164508.2(NEB):c.22891C>T (p.Gln7631Ter)	SNV Unknown	Chr2:151516473	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter			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			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			1 SubmittersRCV003471471
NM_001164508.2(NEB):c.403-2A>G	SNV Germline	Chr2:151724963	Likely pathogenic	Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003471474 RCV003629284
NM_001164508.2(NEB):c.22906-1G>C	SNV Unknown	Chr2:151514929	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter			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			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			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			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			1 SubmittersRCV003463122
NM_001164508.2(NEB):c.7227+1G>A	SNV Unknown	Chr2:151650573	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter			1 SubmittersRCV003463124
NM_001164508.2(NEB):c.3541A>T (p.Lys1181Ter)	SNV Unknown	Chr2:151677902	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter			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			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			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			1 SubmittersRCV003463133
NM_001164508.2(NEB):c.10592T>A (p.Leu3531Ter)	SNV Unknown	Chr2:151619731	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter			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			1 SubmittersRCV004576325
NM_001164508.2(NEB):c.20683-2A>C	SNV Unknown	Chr2:151540803	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter			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			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			1 SubmittersRCV004576329
NM_001164508.2(NEB):c.5971-1G>A	SNV Unknown	Chr2:151659170	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter			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			1 SubmittersRCV004576331
NM_001164508.2(NEB):c.402+1G>A	SNV Unknown	Chr2:151725452	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter			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			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			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			1 SubmittersRCV004576341
NM_001164508.2(NEB):c.10452+1G>C	SNV Unknown	Chr2:151625533	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter			1 SubmittersRCV004576344
NM_001164508.2(NEB):c.11628G>A (p.Trp3876Ter)	SNV Unknown	Chr2:151612363	Pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter			1 SubmittersRCV004576347
NM_001164508.2(NEB):c.21639C>A (p.Tyr7213Ter)	SNV Unknown	Chr2:151529306	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter			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			1 SubmittersRCV004576352
NM_001164508.2(NEB):c.17013+1G>A	SNV Unknown	Chr2:151575694	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter			1 SubmittersRCV004576353
NM_001164508.2(NEB):c.18262-1G>T	SNV Unknown	Chr2:151565606	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter			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			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			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			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			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			1 SubmittersRCV004576366
NM_001164508.2(NEB):c.22909G>T (p.Glu7637Ter)	SNV Unknown	Chr2:151514925	Pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter			1 SubmittersRCV004576367
NM_001164508.2(NEB):c.7236T>A (p.Tyr2412Ter)	SNV Unknown	Chr2:151650371	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter			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			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			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			1 SubmittersRCV004574325
NM_001164508.2(NEB):c.9974G>A (p.Trp3325Ter)	SNV Unknown	Chr2:151627692	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter			1 SubmittersRCV004574327
NM_001164508.2(NEB):c.11939C>A (p.Ser3980Ter)	SNV Unknown	Chr2:151610595	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter			1 SubmittersRCV004574331
NM_001164508.2(NEB):c.17737-2A>T	SNV Unknown	Chr2:151568180	Pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter			1 SubmittersRCV004574333

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

SNV
Germline

Chr18:44951952

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA114715

rs_267607038

12 SubmittersRCV000001086 RCV000255245 RCV000855501 RCV001007919 RCV004532268

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

SNV
Germline

Chr6:152151692

Pathogenic

Arthrogryposis multiplex congenita 3, myogenic type

No Assertion Criteria Provided

rs_1586285494

1 SubmittersRCV000002425

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

SNV
Germline

Chr2:151706880

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA222737

rs_398124167

9 SubmittersRCV000174538 RCV000790650 RCV001174709 RCV001449897 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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA090890

rs_587777450

13 SubmittersRCV000125478 RCV000224805 RCV000623552 RCV000855472 RCV001091982 RCV003224865 RCV003147342

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

SNV
Germline

Chr19:38516111

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA024994

rs_587784379

7 SubmittersRCV000147451 RCV001036190 RCV000855485 RCV001004921 RCV003998165

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

SNV
Germline

Chr19:38477821

Conflicting classifications of pathogenicity

Congenital myopathy
Condition: not provided
RYR1-related disorder
not specified
Fetal akinesia deformation sequence 1
Arthrogryposis multiplex congenita
Congenital myopathy with fiber type disproportion
Neuromuscular disease
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA024441

rs_200546266

15 SubmittersRCV000148819 RCV000520385 RCV000534955 RCV000501380 RCV000855482 RCV001198313 RCV004017422 RCV003998172

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

SNV
Germline

Chr2:151537898

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA199704

rs_769345284

8 SubmittersRCV000170577 RCV000664706 RCV000781653 RCV002478527 RCV003468850

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

SNV
Germline

Chr3:38551159

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA018989

rs_786205271

5 SubmittersRCV000171697 RCV000855502 RCV001842522

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

Arthrogryposis multiplex congenita
Lethal congenital contracture syndrome 9

Criteria Provided
Single Submitter

CA200214

rs_793888525

2 SubmittersRCV000172979 RCV000186600

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

Likely pathogenic

Arthrogryposis multiplex congenita 6
Nemaline myopathy 2

Criteria Provided
Multiple Submitters
No Conflicts

CA16616822

rs_767302772

2 SubmittersRCV003475836 RCV003514331

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

SNV
Germline

Chr2:151551738

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA1907493

rs_201553266

10 SubmittersRCV000224886 RCV000541914 RCV000622763 RCV000780536 RCV001836641 RCV004547569

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
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA10602804

rs_886041851

4 SubmittersRCV000277796 RCV001214721 RCV004527372

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

SNV
Germline

Chr2:151499297

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA1906151

rs_755239192

9 SubmittersRCV000387492 RCV000625834 RCV002503971 RCV003469210

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

SNV
Germline

Chr2:151541475

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1907204

rs_202209668

9 SubmittersRCV000292919 RCV000535305 RCV002502095 RCV002518819

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
Condition: not provided
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

Criteria Provided
Conflicting Classifications

CA4056751

rs_144797744

7 SubmittersRCV000286476 RCV000341441 RCV000713581 RCV000701706 RCV001535685

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
Intellectual disability
Arthrogryposis multiplex congenita 3, myogenic type
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
SYNE1-related disorder

Criteria Provided
Conflicting Classifications

CA4055383

rs_145899734

15 SubmittersRCV000266512 RCV000321614 RCV000710244 RCV002518932 RCV001252119 RCV001331537 RCV001362101 RCV004535321

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

3 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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA1911959

rs_773952935

7 SubmittersRCV000303625 RCV000414510 RCV001192840 RCV003469243

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

8 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
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Conflicting Classifications

CA1911541

rs_199710125

5 SubmittersRCV000355760 RCV000691778 RCV002504024

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

SNV
Germline

Chr2:151619740

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1908984

rs_199584268

6 SubmittersRCV000822266 RCV001753794 RCV002480174

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

SNV
Germline

Chr2:151514316

Conflicting classifications of pathogenicity

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Conflicting Classifications

CA10612274

rs_112610938

4 SubmittersRCV000701787 RCV003470318

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

SNV
Germline

Chr2:151569341

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1908205

rs_773239926

5 SubmittersRCV000795724 RCV002487462 RCV003129840

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

SNV
Germline

Chr2:151667857

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1910565

rs_756692621

5 SubmittersRCV000688136 RCV003133235 RCV002487463

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
Condition: not provided
Arthrogryposis multiplex congenita 3, myogenic type

Criteria Provided
Conflicting Classifications

CA4056181

rs_554814659

3 SubmittersRCV000275716 RCV000314518 RCV003137974 RCV004579543

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

SNV
Germline

Chr6:152310753

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4055423

rs_369292604

8 SubmittersRCV000785033 RCV000785031 RCV000713609 RCV000785032 RCV002520410 RCV001850885

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

SNV
Germline

Chr11:1926681

Conflicting classifications of pathogenicity

Arthrogryposis multiplex congenita
Arthrogryposis multiplex congenita distal
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5816218

rs_202175253

2 SubmittersRCV000353956 RCV000306102 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

Criteria Provided
Multiple Submitters
No Conflicts

CA16040851

rs_1057516996

4 SubmittersRCV000412054 RCV001420895 RCV003463800

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
Unknown

Chr2:151688290

Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA16040855

rs_1057517399

2 SubmittersRCV000411510 RCV004567890

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

SNV
Germline

Chr2:151724952

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

CA16040858

rs_1057517360

7 SubmittersRCV000411613 RCV001796023 RCV004567889 RCV002488842

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

Condition: not provided
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA16042419

rs_1057517977

5 SubmittersRCV000413859 RCV000667230 RCV003470361

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

SNV
Germline

Chr2:151501423

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA1906173

rs_549794342

17 SubmittersRCV000414803 RCV000416049 RCV000576327 RCV003155176 RCV003476003 RCV004551415 RCV002480270

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

Criteria Provided
Conflicting Classifications

CA1906270

rs_545937015

6 SubmittersRCV000416472 RCV001195395 RCV001782898 RCV003476005

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

Criteria Provided
Conflicting Classifications

CA1907121

rs_150874422

6 SubmittersRCV000425742 RCV000550442 RCV002506082 RCV004551506

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

SNV
Germline

Chr2:151630821

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA1909252

rs_375145370

8 SubmittersRCV000444827 RCV000528659 RCV002480289

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

Criteria Provided
Conflicting Classifications

CA2499591

rs_552094593

7 SubmittersRCV000487962 RCV000855462 RCV001329659 RCV002528222 RCV001829394 RCV003330722

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
not specified

Criteria Provided
Conflicting Classifications

CA1906977

rs_148950085

7 SubmittersRCV000493255 RCV001086213 RCV003470617 RCV003230521

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

7 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.22590+2T>C

SNV
Germline

Chr2:151519656

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1906606

rs_200449517

10 SubmittersRCV000521210 RCV000666422 RCV002282198 RCV003470655

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
Arthrogryposis multiplex congenita 6
Nemaline myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA1908708

rs_776569219

6 SubmittersRCV000529040 RCV000521697 RCV003476222 RCV003993996

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

9 SubmittersRCV000519006 RCV000536181 RCV001192838 RCV003470651

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

SNV
Germline

Chr15:51404526

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA7560758

rs_750803388

2 SubmittersRCV000524042 RCV000855464

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
Arthrogryposis multiplex congenita 6
Nemaline myopathy 2

Criteria Provided
Conflicting Classifications

CA1910237

rs_375412223

6 SubmittersRCV000529425 RCV003129901 RCV002506339

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

Criteria Provided
Conflicting Classifications

CA658683265

rs_1553715636

4 SubmittersRCV000579107 RCV001834828 RCV002250662

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16021311

rs_763364977

9 SubmittersRCV000586673 RCV000763063 RCV001783093 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

5 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
Congenital myasthenic syndrome 11
Fetal akinesia deformation sequence 1
Fetal akinesia deformation sequence 2

Criteria Provided
Conflicting Classifications

CA5976768

rs_375218091

4 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

Arthrogryposis multiplex congenita 6

No Assertion Criteria Provided

CA348787368

rs_1336053002

1 SubmittersRCV000611131

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
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA1905995

rs_202048855

8 SubmittersRCV000623853 RCV000820159 RCV002506517 RCV003153763 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

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA348825220

rs_1255744452

6 SubmittersRCV000641321 RCV003148813 RCV003488752 RCV003472031

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

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

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

rs_113525641

5 SubmittersRCV000667580 RCV001584536 RCV002507159 RCV004568511

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

SNV
Germline

Chr2:151561203

Conflicting classifications of pathogenicity

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Conflicting Classifications

rs_374929094

5 SubmittersRCV000673418 RCV003465527

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

rs_539819851

4 SubmittersRCV000668686 RCV003233799 RCV003472105

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

SNV
Germline

Chr2:151492097

Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

rs_1191429915

3 SubmittersRCV000667178 RCV003465466

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

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

rs_1218073575

4 SubmittersRCV000668980 RCV004568519

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

SNV
Unknown

Chr2:151618274

Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

rs_1460365350

2 SubmittersRCV000667252 RCV003465471

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

SNV
Germline

Chr2:151497714

Pathogenic/Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

rs_756726488

3 SubmittersRCV000667053 RCV004568506

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

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1011425121

3 SubmittersRCV000674962 RCV003472177

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

rs_1011425121

3 SubmittersRCV000673508 RCV003472157

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

SNV
Germline

Chr2:151499391

Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

rs_1553561697

3 SubmittersRCV000668888 RCV003465486

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

SNV
Germline

Chr2:151519759

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_760935667

9 SubmittersRCV000672682 RCV000781656 RCV001784275 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

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

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

rs_757157808

3 SubmittersRCV000665581 RCV003472071

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

SNV
Germline

Chr2:151562125

Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

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

rs_1443738549

7 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

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
Multiple Submitters
No Conflicts

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

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
Arthrogryposis multiplex congenita 6

Criteria Provided
Conflicting Classifications

rs_797045736

5 SubmittersRCV000671466 RCV001784269 RCV003472138

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

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

rs_1553603437

4 SubmittersRCV000664673 RCV003472066

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

SNV
Germline

Chr2:151563623

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

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
Condition: not provided
Inborn genetic diseases
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

rs_749452641

6 SubmittersRCV000674087 RCV001194218 RCV003325512 RCV003243248 RCV003472164

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

SNV
Unknown

Chr2:151617362

Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_754369875

3 SubmittersRCV000668497 RCV003472100

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

rs_112517981

3 SubmittersRCV000669059 RCV003472110

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

SNV
Germline

Chr2:151610761

Conflicting classifications of pathogenicity

Nemaline myopathy 2
Condition: not provided
Arthrogryposis multiplex congenita 6

Criteria Provided
Conflicting Classifications

rs_774495973

5 SubmittersRCV000667256 RCV003133493 RCV004568509

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

SNV
Germline

Chr2:151729657

Pathogenic/Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

rs_1428597732

4 SubmittersRCV000667927 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

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

rs_113091511

4 SubmittersRCV000667067 RCV001255511 RCV003465461

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

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
Arthrogryposis multiplex congenita 6

Criteria Provided
Conflicting Classifications

rs_1553605553

4 SubmittersRCV000667222 RCV001784247 RCV003465470

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

SNV
Germline

Chr2:151658091

Pathogenic/Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

rs_1553469502

3 SubmittersRCV000668960 RCV003465487

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

SNV
Germline

Chr2:151697348

Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

rs_770797137

4 SubmittersRCV000667221 RCV004568507

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

SNV
Unknown

Chr2:151677875

Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

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

rs_1553608621

3 SubmittersRCV000667220 RCV003465469

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

SNV
Germline

Chr2:151663543

Conflicting classifications of pathogenicity

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Conflicting Classifications

rs_776167256

3 SubmittersRCV000667575 RCV004568510

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

SNV
Germline

Chr2:151675292

Conflicting classifications of pathogenicity

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Conflicting Classifications

rs_1553521537

3 SubmittersRCV000667109 RCV003465463

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

SNV
Germline

Chr2:151679720

Pathogenic/Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

rs_375628303

3 SubmittersRCV000668568 RCV003459598

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_778593702

8 SubmittersRCV000667209 RCV000781651 RCV001784246 RCV003465467 RCV004547838

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

SNV
Germline

Chr2:151697650

Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

rs_1553609515

3 SubmittersRCV000667210 RCV003465468

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

SNV
Germline

Chr9:129814109

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_760768475

9 SubmittersRCV000677723 RCV001250912 RCV001592856

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

SNV
Germline

Chr2:151501426

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

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

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

Criteria Provided
Conflicting Classifications

rs_751494785

5 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
Inborn genetic diseases
Arthrogryposis multiplex congenita 6

Criteria Provided
Conflicting Classifications

rs_546869744

6 SubmittersRCV000691938 RCV001756183 RCV002544927 RCV003447553

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

SNV
Germline

Chr2:151664588

Pathogenic/Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

rs_201636991

2 SubmittersRCV000703915 RCV003465629

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

SNV
Germline

Chr2:151525265

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

rs_748922882

5 SubmittersRCV000701148 RCV000781648 RCV002499258 RCV003465616

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

SNV
Germline

Chr2:151526238

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_756646859

4 SubmittersRCV000704917 RCV002286785 RCV002477626

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

SNV
Germline

Chr19:35134679

Pathogenic

Arthrogryposis multiplex congenita 2, neurogenic type

Criteria Provided
Single Submitter

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

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

Criteria Provided
Conflicting Classifications

rs_117134265

5 SubmittersRCV000732649 RCV000903196 RCV000855500 RCV001310261

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_747595523

7 SubmittersRCV000791458 RCV001004046 RCV000855457 RCV001796204

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

SNV
Germline

Chr2:151561279

Conflicting classifications of pathogenicity

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Conflicting Classifications

rs_1559940778

3 SubmittersRCV000778566 RCV003465706

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

SNV
Germline

Chr18:10797517

Pathogenic

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

Criteria Provided
Single Submitter

rs_1568069621

2 SubmittersRCV000779589 RCV000855470

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

SNV
Germline

Chr2:151491697

Pathogenic

Nemaline myopathy 2
Nemaline myopathy
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

rs_760200697

4 SubmittersRCV001214341 RCV000781652 RCV004569492

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

SNV
Germline

Chr2:151527528

Pathogenic/Likely pathogenic

Nemaline myopathy
Arthrogryposis multiplex congenita 6
Nemaline myopathy 2

Criteria Provided
Multiple Submitters
No Conflicts

rs_750900690

3 SubmittersRCV000780533 RCV003467310 RCV001869153

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

SNV
Germline

Chr6:152122594

Pathogenic

Arthrogryposis multiplex congenita 3, myogenic type

Criteria Provided
Single Submitter

rs_746177326

2 SubmittersRCV000787309

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

SNV
Germline

Chr2:151493797

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_201291446

5 SubmittersRCV000822717 RCV002501141 RCV003130076

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

SNV
Germline

Chr2:151494161

Pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

rs_202048855

3 SubmittersRCV000814228 RCV003472421

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

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

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
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Conflicting Classifications

rs_374606967

6 SubmittersRCV000801391 RCV002222638 RCV002507387

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

SNV
Germline

Chr2:151640659

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_750548574

6 SubmittersRCV000810643 RCV001731939 RCV002507410 RCV003130061 RCV003467443

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

SNV
Germline

Chr2:151656167

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

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

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

rs_750585238

2 SubmittersRCV000807407 RCV003467420

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

SNV
Germline

Chr1:12277831

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_79282181

4 SubmittersRCV000855522 RCV002064422 RCV003908141

NM_005807.6(PRG4):c.3569G>A (p.Gly1190Asp)

SNV
Germline

Chr1:186311103

Conflicting classifications of pathogenicity

Arthrogryposis multiplex congenita
Fetal akinesia deformation sequence 1
PRG4-related disorder

Criteria Provided
Conflicting Classifications

rs_150072104

2 SubmittersRCV000855497 RCV003938204

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

SNV
Germline

Chr1:197128563

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_774338373

3 SubmittersRCV000855491 RCV001816923 RCV003453775

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

rs_1057521117

2 SubmittersRCV000855456 RCV003517274

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

SNV
Germline

Chr2:232528599

Likely pathogenic

Arthrogryposis multiplex congenita
Fetal akinesia deformation sequence 1

Criteria Provided
Single Submitter

rs_1574630583

1 SubmittersRCV000855459

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

SNV
Unknown

Chr4:122239608

Likely pathogenic

Arthrogryposis multiplex congenita
Fetal akinesia deformation sequence 1

Criteria Provided
Single Submitter

rs_1460624416

1 SubmittersRCV000855516

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

SNV
Unknown

Chr4:122336233

Likely pathogenic

Arthrogryposis multiplex congenita
Fetal akinesia deformation sequence 1

Criteria Provided
Single Submitter

rs_777407076

1 SubmittersRCV000855517

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

SNV
Germline

Chr8:18063197

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1588980220

2 SubmittersRCV000855490 RCV002536200

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

SNV
Germline

Chr8:18075578

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_200758704

4 SubmittersRCV000983934 RCV001164025 RCV000855489

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

SNV
Germline

Chr11:47441729

Likely pathogenic

Arthrogryposis multiplex congenita
Fetal akinesia deformation sequence 1

Criteria Provided
Single Submitter

rs_1040279711

1 SubmittersRCV000855474

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

SNV
Germline

Chr12:51699582

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1592387849

2 SubmittersRCV000855503 RCV001775152

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

SNV
Germline

Chr13:101176356

Likely pathogenic

Arthrogryposis multiplex congenita
Fetal akinesia deformation sequence 1

Criteria Provided
Single Submitter

rs_1594368753

1 SubmittersRCV000855468

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

SNV
Germline

Chr13:101292087

Likely pathogenic

Arthrogryposis multiplex congenita
Fetal akinesia deformation sequence 1

Criteria Provided
Single Submitter

rs_1594616249

1 SubmittersRCV000855467

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

SNV
Unknown

Chr13:101395283

Likely pathogenic

Arthrogryposis multiplex congenita
Fetal akinesia deformation sequence 1

Criteria Provided
Single Submitter

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

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

rs_1595633027

2 SubmittersRCV000855523 RCV001367404

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

SNV
Germline

Chr16:23535032

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_749912939

3 SubmittersRCV000855494 RCV001310323

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

SNV
Germline

Chr17:42683822

Pathogenic

Arthrogryposis multiplex congenita
Fetal akinesia deformation sequence 1

Criteria Provided
Single Submitter

rs_1597802927

1 SubmittersRCV000855460

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

SNV
Germline

Chr17:42690789

Likely pathogenic

Arthrogryposis multiplex congenita
Fetal akinesia deformation sequence 1

Criteria Provided
Single Submitter

rs_1597807901

1 SubmittersRCV000855461

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

SNV
Unknown

Chr17:63959266

Likely pathogenic

Arthrogryposis multiplex congenita
Fetal akinesia deformation sequence 1

Criteria Provided
Single Submitter

rs_1597978607

1 SubmittersRCV000855486

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

SNV
Unknown

Chr18:10855359

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_773449118

2 SubmittersRCV000855471 RCV003147564

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

SNV
Germline

Chr19:35126538

Likely pathogenic

Arthrogryposis multiplex congenita
Fetal akinesia deformation sequence 1

Criteria Provided
Single Submitter

rs_1201430967

1 SubmittersRCV000855466

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

SNV
Germline

Chr19:35131510

Likely pathogenic

Arthrogryposis multiplex congenita
Fetal akinesia deformation sequence 1

Criteria Provided
Single Submitter

rs_201728190

1 SubmittersRCV000855465

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

SNV
Unknown

Chr19:38457540

Likely pathogenic

Arthrogryposis multiplex congenita
Fetal akinesia deformation sequence 1

Criteria Provided
Single Submitter

rs_1600682739

1 SubmittersRCV000855481

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

SNV
Unknown

Chr19:38458292

Likely pathogenic

Arthrogryposis multiplex congenita
Fetal akinesia deformation sequence 1

Criteria Provided
Single Submitter

rs_755496104

1 SubmittersRCV000855475

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

SNV
Germline

Chr19:38499991

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

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

Criteria Provided
Single Submitter

rs_1600843056

1 SubmittersRCV000855478

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

SNV
Unknown

Chr19:38517691

Likely pathogenic

Arthrogryposis multiplex congenita
Fetal akinesia deformation sequence 1

Criteria Provided
Single Submitter

rs_1600892115

1 SubmittersRCV000855480

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

SNV
Unknown

Chr19:38572270

Likely pathogenic

Arthrogryposis multiplex congenita
Fetal akinesia deformation sequence 1

Criteria Provided
Single Submitter

rs_1599649479

1 SubmittersRCV000855483

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

SNV
Germline

ChrX:153536444

Likely pathogenic

Arthrogryposis multiplex congenita
Fetal akinesia deformation sequence 1

Criteria Provided
Single Submitter

rs_1603040061

1 SubmittersRCV000855493

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

SNV
Germline

Chr2:151513681

Pathogenic/Likely pathogenic

Nemaline myopathy 2
Nemaline myopathy
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

rs_1575714905

4 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

rs_1576203853

3 SubmittersRCV000986834 RCV004569829

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

SNV
Germline

Chr2:151619711

Pathogenic/Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

rs_779909544

3 SubmittersRCV000986840 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

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

rs_1212374733

4 SubmittersRCV001004942 RCV003467576 RCV004553551

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

SNV
Germline

Chr2:151492167

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_767709270

6 SubmittersRCV001007837 RCV002497328 RCV003141928 RCV003473553 RCV003117687

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

SNV
Germline

Chr2:151609807

Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

rs_1374971806

2 SubmittersRCV001027690 RCV003467698

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

SNV
Germline

Chr2:151643346

Conflicting classifications of pathogenicity

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Conflicting Classifications

rs_1389374032

2 SubmittersRCV001044618 RCV003467734

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

rs_747729019

3 SubmittersRCV001049602 RCV002481951

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

rs_2097758221

2 SubmittersRCV001048805 RCV003462542

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

SNV
Germline

Chr2:151570496

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_747946275

5 SubmittersRCV001043979 RCV001784590 RCV001824918 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

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

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

Criteria Provided
Conflicting Classifications

rs_556930902

8 SubmittersRCV001134806 RCV001508087 RCV002491403 RCV003331049

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

Criteria Provided
Conflicting Classifications

rs_767493706

5 SubmittersRCV001135461 RCV002491404 RCV003438662

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

rs_555582398

7 SubmittersRCV001175588 RCV001222350 RCV001580057 RCV004570330

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

SNV
Germline

Chr2:151629595

Pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

rs_1301228529

2 SubmittersRCV001222507 RCV003469384

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

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

rs_1032240985

2 SubmittersRCV001235353 RCV003469430

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

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
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_185999504

4 SubmittersRCV001247714 RCV002504365 RCV003132352

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

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

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

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

rs_398124167

4 SubmittersRCV001251277 RCV001830055 RCV003469483

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

SNV
Germline

Chr4:122230212

Likely pathogenic

Clubfoot
Arthrogryposis multiplex congenita
Severe hydrocephalus

Criteria Provided
Single Submitter

rs_775292946

1 SubmittersRCV001257375

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

SNV
Germline

Chr2:151549652

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

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

rs_368150737

6 SubmittersRCV001317075 RCV002493656 RCV003132405 RCV004034411

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

SNV
Germline

Chr2:151548333

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_781250495

4 SubmittersRCV001337749 RCV002504528 RCV003130477

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

SNV
Germline

Chr2:151563931

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1203257517

5 SubmittersRCV001377790 RCV002504630 RCV003473906 RCV002307737

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

SNV
Germline

Chr2:151609804

Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

rs_763163879

2 SubmittersRCV001378886 RCV003469637

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

SNV
Germline

Chr2:151627207

Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

rs_1435980710

2 SubmittersRCV001377109 RCV003469622

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

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

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

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

rs_767693366

2 SubmittersRCV001378539 RCV003473910

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

SNV
Germline

Chr2:151561054

Pathogenic/Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6
Nemaline myopathy

Criteria Provided
Multiple Submitters
No Conflicts

rs_2153702280

3 SubmittersRCV001383444 RCV003469696 RCV002282537

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

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

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

rs_2153939368

2 SubmittersRCV001386832 RCV003469724

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

SNV
Germline

Chr2:151639943

Pathogenic/Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

rs_1351747266

2 SubmittersRCV001387965 RCV004570966

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

SNV
Germline

Chr2:151677738

Pathogenic/Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

rs_748453057

2 SubmittersRCV001389858 RCV003473993

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

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

rs_374874999

1 SubmittersRCV001449899

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

SNV
Germline

Chr2:151561109

Pathogenic

Arthrogryposis multiplex congenita 6

No Assertion Criteria Provided

rs_2153702473

1 SubmittersRCV001449901

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

SNV
Germline

Chr2:151612272

Pathogenic/Likely pathogenic

Condition: not provided
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

rs_377182240

3 SubmittersRCV001508086 RCV002564229 RCV003470847

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

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

rs_2065139570

1 SubmittersRCV001844373

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

SNV
Germline

Chr2:151492209

Pathogenic/Likely pathogenic

Condition: not provided
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

rs_758327681

3 SubmittersRCV001784725 RCV001885165 RCV003470907

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

rs_140614229

4 SubmittersRCV001782382 RCV002541202 RCV002541201

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

SNV
Germline

Chr2:151552671

Pathogenic/Likely pathogenic

Condition: not provided
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

rs_1446930968

4 SubmittersRCV001782508 RCV001868865 RCV003470913

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

rs_1562922141

1 SubmittersRCV001813905

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

SNV
Germline

Chr2:151650262

Likely pathogenic

Nemaline myopathy 2
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

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

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

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

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

rs_2154175437

3 SubmittersRCV001946731 RCV004571728

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

rs_1433028646

2 SubmittersRCV001949648 RCV003471192

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

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_778104284

2 SubmittersRCV001960729 RCV003475221

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

SNV
Germline

Chr2:151491704

Pathogenic

Nemaline myopathy 2
Condition: not provided
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

rs_777232352

3 SubmittersRCV001870159 RCV002511103 RCV003475120

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

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

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_949331605

2 SubmittersRCV002025272 RCV003471226

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
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

rs_2154175371

4 SubmittersRCV001956264 RCV002507704 RCV004571745

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

SNV
Germline

Chr2:151725562

Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

rs_1428300892

2 SubmittersRCV001992292 RCV003475280

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

rs_2153657682

2 SubmittersRCV001987212 RCV003471084

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

SNV
Germline

Chr6:152149519

Conflicting classifications of pathogenicity

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
Autosomal recessive ataxia, Beauce type
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_370421580

4 SubmittersRCV002114824 RCV002508088 RCV003434439

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

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

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

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

2 SubmittersRCV002306961 RCV004572232

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

2 SubmittersRCV003078939 RCV003448477

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

SNV
Germline

Chr2:151692086

Conflicting classifications of pathogenicity

Nemaline myopathy
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Conflicting Classifications

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

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

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

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

2 SubmittersRCV002634728 RCV003465799

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

SNV
Germline

Chr2:151609977

Pathogenic/Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002705678 RCV004571212

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

SNV
Germline

Chr2:151524416

Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002861794 RCV003475440

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

SNV
Germline

Chr2:151568159

Pathogenic/Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003047388 RCV003475478

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

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

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

1 SubmittersRCV003226605

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

SNV
Germline

Chr2:151636226

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

rs_143644938

1 SubmittersRCV003228233

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

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

1 SubmittersRCV003340971

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

SNV
Unknown

Chr2:151656024

Pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

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

1 SubmittersRCV003471403

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

SNV
Unknown

Chr2:151507014

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

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

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

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

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

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

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

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

1 SubmittersRCV003471413

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

SNV
Unknown

Chr2:151541552

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

1 SubmittersRCV003476531

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

SNV
Unknown

Chr2:151530992

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

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

1 SubmittersRCV003471415

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

SNV
Unknown

Chr2:151494160

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

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

1 SubmittersRCV003471418

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

SNV
Unknown

Chr2:151697349

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

1 SubmittersRCV003471419

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

SNV
Unknown

Chr2:151610625

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

1 SubmittersRCV003476535

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

SNV
Unknown

Chr2:151489970

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

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

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

1 SubmittersRCV003471423

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

SNV
Germline

Chr2:151609919

Pathogenic/Likely pathogenic

Arthrogryposis multiplex congenita 6
Nemaline myopathy 2

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003471425 RCV003629280

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

SNV
Unknown

Chr2:151568179

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

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

1 SubmittersRCV003471428

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

SNV
Unknown

Chr2:151616001

Pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

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

1 SubmittersRCV003471430

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

SNV
Germline

Chr2:151678053

Pathogenic/Likely pathogenic

Arthrogryposis multiplex congenita 6
Nemaline myopathy 2

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003471432 RCV003514645

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

SNV
Unknown

Chr2:151490520

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

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

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

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

1 SubmittersRCV003476546

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

SNV
Unknown

Chr2:151639386

Pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

1 SubmittersRCV003471436

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

SNV
Unknown

Chr2:151694348

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

1 SubmittersRCV003476547

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

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

1 SubmittersRCV003476551

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

SNV
Unknown

Chr2:151620918

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

1 SubmittersRCV003476554

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

SNV
Unknown

Chr2:151526070

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

1 SubmittersRCV003476556

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

SNV
Germline

Chr2:151650708

Pathogenic/Likely pathogenic

Arthrogryposis multiplex congenita 6
Nemaline myopathy 2

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003476557 RCV003629281

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

SNV
Unknown

Chr2:151604766

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

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

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

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

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

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

1 SubmittersRCV003476566

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

SNV
Unknown

Chr2:151518964

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

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

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

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

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

1 SubmittersRCV003471462

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

SNV
Unknown

Chr2:151706998

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

1 SubmittersRCV003471463

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

SNV
Unknown

Chr2:151494160

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

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

1 SubmittersRCV003476574

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

SNV
Unknown

Chr2:151569346

Pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

1 SubmittersRCV003476575

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

SNV
Unknown

Chr2:151664500

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

1 SubmittersRCV003471466

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

SNV
Unknown

Chr2:151603580

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

1 SubmittersRCV003471468

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

SNV
Unknown

Chr2:151516473

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

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

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

1 SubmittersRCV003471471

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

SNV
Germline

Chr2:151724963

Likely pathogenic

Arthrogryposis multiplex congenita 6
Nemaline myopathy 2

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003471474 RCV003629284

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

SNV
Unknown

Chr2:151514929

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

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

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

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

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

1 SubmittersRCV003463122

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

SNV
Unknown

Chr2:151650573

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

1 SubmittersRCV003463124

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

SNV
Unknown

Chr2:151677902

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

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

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

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

1 SubmittersRCV003463133

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

SNV
Unknown

Chr2:151619731

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

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

1 SubmittersRCV004576325

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

SNV
Unknown

Chr2:151540803

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

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

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

1 SubmittersRCV004576329

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

SNV
Unknown

Chr2:151659170

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

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

1 SubmittersRCV004576331

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

SNV
Unknown

Chr2:151725452

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

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

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

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

1 SubmittersRCV004576341

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

SNV
Unknown

Chr2:151625533

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

1 SubmittersRCV004576344

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

SNV
Unknown

Chr2:151612363

Pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

1 SubmittersRCV004576347

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

SNV
Unknown

Chr2:151529306

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

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

1 SubmittersRCV004576352

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

SNV
Unknown

Chr2:151575694

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

1 SubmittersRCV004576353

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

SNV
Unknown

Chr2:151565606

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

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

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

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

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

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

1 SubmittersRCV004576366

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

SNV
Unknown

Chr2:151514925

Pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

1 SubmittersRCV004576367

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

SNV
Unknown

Chr2:151650371

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

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

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

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

1 SubmittersRCV004574325

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

SNV
Unknown

Chr2:151627692

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

1 SubmittersRCV004574327

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

SNV
Unknown

Chr2:151610595

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

1 SubmittersRCV004574331

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

SNV
Unknown

Chr2:151568180

Pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

1 SubmittersRCV004574333