Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_015559.3(SETBP1):c.2612T>C (p.Ile871Thr)	SNV Germline	Chr18:44951952	Pathogenic/Likely pathogenic	Schinzel-Giedion syndrome Condition: not provided Intellectual disability, autosomal dominant 29 Arthrogryposis multiplex congenita Fetal akinesia deformation sequence 1 SETBP1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA114715	rs_267607038	12 SubmittersRCV000001086 RCV000255245 RCV001007919 RCV000855501 RCV004532268
NM_182961.4(SYNE1):c.15918-12A>G	SNV Germline	Chr6:152321898	Pathogenic	Autosomal recessive ataxia, Beauce type Condition: not provided Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant SYNE1-related disorder Emery-Dreifuss muscular dystrophy 4, autosomal dominant Arthrogryposis multiplex congenita 3, myogenic type Autosomal recessive ataxia, Beauce type	Criteria Provided Multiple Submitters No Conflicts	CA252215	rs_606231134	8 SubmittersRCV000002416 RCV000423940 RCV000763141 RCV003330382 RCV004734495 RCV005031382
NM_182961.4(SYNE1):c.8695A>T (p.Arg2899Ter)	SNV Germline	Chr6:152381320	Pathogenic	Autosomal recessive ataxia, Beauce type Condition: not provided 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	Criteria Provided Multiple Submitters No Conflicts	CA252216	rs_119103243	6 SubmittersRCV000002417 RCV001288046 RCV005222660 RCV005041971
NM_182961.4(SYNE1):c.25381G>A (p.Glu8461Lys)	SNV Germline	Chr6:152140027	Conflicting classifications of pathogenicity	Emery-Dreifuss muscular dystrophy 4, autosomal dominant Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Condition: not provided not specified Autosomal recessive ataxia, Beauce type Intellectual disability Emery-Dreifuss muscular dystrophy 4, autosomal dominant Arthrogryposis multiplex congenita 3, myogenic type Autosomal recessive ataxia, Beauce type	Criteria Provided Conflicting Classifications	CA115488	rs_119103248	13 SubmittersRCV000002424 RCV000535163 RCV000713651 RCV001002110 RCV000987800 RCV001252121 RCV005394106
NM_182961.4(SYNE1):c.24313-2A>G	SNV Germline	Chr6:152151692	Pathogenic	Arthrogryposis multiplex congenita 3, myogenic type	No Assertion Criteria Provided	CA366086814	rs_1586285494	1 SubmittersRCV000002425
NM_001164508.2(NEB):c.1152+1G>A	SNV Germline	Chr2:151706880	Pathogenic	Nemaline myopathy 2 Condition: not provided 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 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA153986	rs_587780399	5 SubmittersRCV001260937 RCV004567031 RCV006250251
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 Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome Gordon syndrome Condition: not provided Arthrogryposis, distal, with impaired proprioception and touch	Criteria Provided Multiple Submitters No Conflicts	CA090890	rs_587777450	15 SubmittersRCV000125478 RCV000224805 RCV000623552 RCV000855472 RCV003224865 RCV001091982 RCV003147342
NM_000540.3(RYR1):c.9579C>G (p.Cys3193Trp)	SNV Germline	Chr19:38516111	Conflicting classifications of pathogenicity	Condition: not provided Fetal akinesia deformation sequence 1 Arthrogryposis multiplex congenita RYR1-related disorder Central core myopathy Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA024994	rs_587784379	7 SubmittersRCV000147451 RCV000855485 RCV001036190 RCV001004921 RCV003998165
NM_000540.3(RYR1):c.4405C>T (p.Arg1469Trp)	SNV Germline	Chr19:38477821	Conflicting classifications of pathogenicity	Congenital myopathy RYR1-related disorder Condition: not provided not specified Fetal akinesia deformation sequence 1 Arthrogryposis multiplex congenita Congenital myopathy with fiber type disproportion Malignant hyperthermia, susceptibility to, 1 Neuromuscular disease See cases King Denborough syndrome Congenital multicore myopathy with external ophthalmoplegia	Criteria Provided Conflicting Classifications	CA024441	rs_200546266	19 SubmittersRCV000148819 RCV000534955 RCV000520385 RCV000501380 RCV000855482 RCV001198313 RCV003998172 RCV004017422 RCV004797783 RCV004767091 RCV005406848
NM_001164508.2(NEB):c.21076C>T (p.Arg7026Ter)	SNV Germline	Chr2:151537898	Pathogenic/Likely pathogenic	Non-immune hydrops fetalis Nemaline myopathy 2 Nemaline myopathy Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA199704	rs_769345284	7 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 Fetal akinesia deformation sequence 1 Arthrogryposis multiplex congenita Cardiac arrhythmia Cardiovascular phenotype not specified	Criteria Provided Conflicting Classifications	CA018989	rs_786205271	7 SubmittersRCV000171697 RCV000855502 RCV001842522 RCV005480327 RCV006263713
NM_198569.3(ADGRG6):c.19C>T (p.Arg7Ter)	SNV Germline	Chr6:142309560	Pathogenic	Arthrogryposis multiplex congenita Lethal congenital contracture syndrome 9	Criteria Provided Single Submitter	CA200210	rs_749355583	3 SubmittersRCV000172977 RCV000186598
NM_198569.3(ADGRG6):c.2306T>A (p.Val769Glu)	SNV Germline	Chr6:142408187	Pathogenic/Likely pathogenic	Arthrogryposis multiplex congenita Lethal congenital contracture syndrome 9	Criteria Provided Multiple Submitters No Conflicts	CA200214	rs_793888525	3 SubmittersRCV000172979 RCV000186600
NM_182961.4(SYNE1):c.14263C>T (p.Leu4755Phe)	SNV Germline	Chr6:152330422	Conflicting classifications of pathogenicity	not specified Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Condition: not provided Autosomal recessive ataxia, Beauce type SYNE1-related disorder Autosomal recessive ataxia, Beauce type Arthrogryposis multiplex congenita 3, myogenic type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA247458	rs_41301343	12 SubmittersRCV000180075 RCV000316351 RCV000533703 RCV000710240 RCV000714610 RCV004537501 RCV005031716
NM_001164508.2(NEB):c.539A>G (p.Lys180Arg)	SNV Germline	Chr2:151724333	Conflicting classifications of pathogenicity	not specified Condition: not provided Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Conflicting Classifications	CA247643	rs_200719359	9 SubmittersRCV000245711 RCV000514389 RCV001085642 RCV001578687
NM_001164508.2(NEB):c.18862G>A (p.Val6288Ile)	SNV Germline	Chr2:151562640	Conflicting classifications of pathogenicity	Nemaline myopathy 2 Condition: not provided Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA248313	rs_201886728	8 SubmittersRCV000540531 RCV000724505 RCV002492794 RCV002516829
NM_001164508.2(NEB):c.7291G>A (p.Glu2431Lys)	SNV Germline	Chr2:151650316	Conflicting classifications of pathogenicity	Arthrogryposis multiplex congenita 6 Nemaline myopathy 2 not specified Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Nemaline myopathy	Criteria Provided Conflicting Classifications	CA16616822	rs_767302772	5 SubmittersRCV003475836 RCV003514331 RCV004689691 RCV005025395 RCV005252833
NM_001164508.2(NEB):c.19944G>A (p.Ser6648=)	SNV Germline	Chr2:151551738	Pathogenic	Condition: not provided Nemaline myopathy 2 Inborn genetic diseases Nemaline myopathy Arthrogryposis multiplex congenita 6 NEB-related disorder Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Reviewed By Expert Panel	CA1907493	rs_201553266	18 SubmittersRCV000224886 RCV000541914 RCV000622763 RCV000780536 RCV001836641 RCV004547569 RCV004796118
NM_001164508.2(NEB):c.12018+1G>A	SNV Germline	Chr2:151610515	Pathogenic/Likely pathogenic	Condition: not provided Nemaline myopathy 2 Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Nemaline myopathy	Criteria Provided Multiple Submitters No Conflicts	CA1908612	rs_762278237	8 SubmittersRCV000254952 RCV000593350 RCV005016658 RCV005238809
NM_018136.5(ASPM):c.3082+1G>C	SNV Germline	Chr1:197125045	Pathogenic/Likely pathogenic	Condition: not provided Arthrogryposis multiplex congenita Fetal akinesia deformation sequence 1 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 NEB-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA10602804	rs_886041851	5 SubmittersRCV000277796 RCV001214721 RCV004527372 RCV004737397
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	10 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 Inborn genetic diseases Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Conflicting Classifications	CA1907204	rs_202209668	9 SubmittersRCV000292919 RCV000535305 RCV002518819 RCV002502095
NM_001164508.2(NEB):c.10341G>A (p.Met3447Ile)	SNV Germline	Chr2:151627008	Conflicting classifications of pathogenicity	not specified Condition: not provided Nemaline myopathy 2 Inborn genetic diseases NEB-related disorder Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Conflicting Classifications	CA1909062	rs_370053963	12 SubmittersRCV000314743 RCV000724952 RCV001081955 RCV002519098 RCV004547657 RCV005396864
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 Arthrogryposis multiplex congenita 3, myogenic type Autosomal recessive ataxia, Beauce type	Criteria Provided Conflicting Classifications	CA4056751	rs_144797744	8 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 Intellectual disability Arthrogryposis multiplex congenita 3, myogenic type Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Inborn genetic diseases SYNE1-related disorder	Criteria Provided Conflicting Classifications	CA4055383	rs_145899734	15 SubmittersRCV000266512 RCV000321614 RCV000710244 RCV001252119 RCV001331537 RCV001362101 RCV002518932 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	5 SubmittersRCV000352027 RCV000787308
NM_182961.4(SYNE1):c.245G>T (p.Arg82Leu)	SNV Germline	Chr6:152520523	Conflicting classifications of pathogenicity	Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Arthrogryposis multiplex congenita 3, myogenic type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4059818	rs_143900928	8 SubmittersRCV000263124 RCV000318396 RCV000725713 RCV000647662 RCV005863088 RCV002521940
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.22429G>A (p.Gly7477Ser)	SNV Germline	Chr2:151524361	Conflicting classifications of pathogenicity	Condition: not provided Nemaline myopathy 2 Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Conflicting Classifications	CA10606067	rs_764674361	5 SubmittersRCV000316633 RCV000660520 RCV005396897
NM_001164508.2(NEB):c.3211A>C (p.Ile1071Leu)	SNV Germline	Chr2:151679765	Conflicting classifications of pathogenicity	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA1910972	rs_35194393	10 SubmittersRCV001130401 RCV001578688 RCV002522010 RCV000326103
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.17897C>T (p.Pro5966Leu)	SNV Germline	Chr2:151567427	Conflicting classifications of pathogenicity	Nemaline myopathy 2 Inborn genetic diseases Condition: not provided Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Conflicting Classifications	CA1908071	rs_368912483	8 SubmittersRCV000281201 RCV000622600 RCV000595871 RCV005398453
NM_001164508.2(NEB):c.3986A>C (p.Asp1329Ala)	SNV Germline	Chr2:151674478	Conflicting classifications of pathogenicity	Nemaline myopathy 2 Condition: not provided Actin accumulation myopathy Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Conflicting Classifications	CA1910775	rs_115986826	9 SubmittersRCV000531206 RCV001705498 RCV003483605 RCV005018693
NM_001164508.2(NEB):c.1899A>T (p.Arg633Ser)	SNV Germline	Chr2:151692360	Conflicting classifications of pathogenicity	Condition: not provided Nemaline myopathy 2 NEB-related disorder Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Conflicting Classifications	CA1911395	rs_77826191	7 SubmittersRCV000494281 RCV001086153 RCV004549753 RCV005398456
NM_001164508.2(NEB):c.10583G>A (p.Arg3528His)	SNV Germline	Chr2:151619740	Conflicting classifications of pathogenicity	Nemaline myopathy 2 Condition: not provided Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Conflicting Classifications	CA1908984	rs_199584268	7 SubmittersRCV000822266 RCV001753794 RCV002480174
NM_001164508.2(NEB):c.23127+2T>C	SNV Germline	Chr2:151514316	Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA10612274	rs_112610938	3 SubmittersRCV000701787 RCV003470318
NM_001164508.2(NEB):c.25165C>T (p.Arg8389Trp)	SNV Germline	Chr2:151490504	Conflicting classifications of pathogenicity	Condition: not provided Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Conflicting Classifications	CA1905791	rs_373551215	7 SubmittersRCV000521206 RCV000536760 RCV005398451
NM_001164508.2(NEB):c.20162T>C (p.Leu6721Pro)	SNV Germline	Chr2:151547734	Conflicting classifications of pathogenicity	Nemaline myopathy 2 Condition: not provided Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Conflicting Classifications	CA1907400	rs_111517514	10 SubmittersRCV000691644 RCV001577784 RCV005398452
NM_001164508.2(NEB):c.17462G>A (p.Arg5821His)	SNV Germline	Chr2:151569341	Conflicting classifications of pathogenicity	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Nemaline myopathy 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA1908205	rs_773239926	6 SubmittersRCV000795724 RCV002487462 RCV003129840
NM_001164508.2(NEB):c.9743A>G (p.Asn3248Ser)	SNV Germline	Chr2:151629627	Conflicting classifications of pathogenicity	Nemaline myopathy 2 Condition: not provided Inborn genetic diseases Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Conflicting Classifications	CA1909215	rs_139548702	7 SubmittersRCV000798629 RCV003129843 RCV003243088 RCV005398455
NM_001164508.2(NEB):c.4666C>T (p.Pro1556Ser)	SNV Germline	Chr2:151667857	Conflicting classifications of pathogenicity	Nemaline myopathy 2 Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1910565	rs_756692621	6 SubmittersRCV000688136 RCV002487463 RCV003133235 RCV005438889
NM_182961.4(SYNE1):c.13417G>A (p.Glu4473Lys)	SNV Germline	Chr6:152331268	Conflicting classifications of pathogenicity	Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant 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 Condition: not provided Inborn genetic diseases Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type	Criteria Provided Conflicting Classifications	CA4055423	rs_369292604	8 SubmittersRCV000785033 RCV000713609 RCV002520410 RCV000785031 RCV000785032 RCV001850885
NM_001164508.2(NEB):c.8038C>T (p.Arg2680Ter)	SNV Germline	Chr2:151643272	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA16040849	rs_1057516676	4 SubmittersRCV000409018 RCV003470330 RCV006605265
NM_001164508.2(NEB):c.7228-1G>A	SNV Germline	Chr2:151650380	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Nemaline myopathy Arthrogryposis multiplex congenita 6 Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Multiple Submitters No Conflicts	CA16040851	rs_1057516996	6 SubmittersRCV000412054 RCV001420895 RCV003463800 RCV005027464
NM_001164508.2(NEB):c.3987+1G>A	SNV Germline	Chr2:151674476	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Nemaline myopathy Condition: not provided Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA1910773	rs_780022652	7 SubmittersRCV000410029 RCV000781655 RCV001723970 RCV003470347
NM_001164508.2(NEB):c.2415+2T>C	SNV Germline	Chr2:151688290	Likely pathogenic	Nemaline myopathy 2 Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA16040855	rs_1057517399	3 SubmittersRCV000411510 RCV005027467 RCV004567890
NM_001164508.2(NEB):c.412C>T (p.Arg138Ter)	SNV Germline	Chr2:151724952	Pathogenic	Nemaline myopathy 2 Condition: not provided Arthrogryposis multiplex congenita 6 Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA16040858	rs_1057517360	7 SubmittersRCV000411613 RCV001796023 RCV002488842 RCV004567889
NM_001164508.2(NEB):c.4720-2A>G	SNV Germline	Chr2:151666403	Likely pathogenic	Condition: not provided Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA16042348	rs_1057518353	2 SubmittersRCV000413634 RCV004567900
NM_001164508.2(NEB):c.9046C>T (p.Arg3016Ter)	SNV Germline	Chr2:151636283	Pathogenic/Likely pathogenic	Condition: not provided Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Nemaline myopathy Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Multiple Submitters No Conflicts	CA16042419	rs_1057517977	7 SubmittersRCV000413859 RCV000667230 RCV003470361 RCV004586700 RCV005027474
NM_001164508.2(NEB):c.23989C>T (p.Arg7997Ter)	SNV Germline	Chr2:151501423	Conflicting classifications of pathogenicity	Limb pain Progressive proximal muscle weakness Muscular dystrophy Condition: not provided Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Nemaline myopathy 2 Nemaline myopathy Arthrogryposis multiplex congenita 6 NEB-related disorder	Criteria Provided Conflicting Classifications	CA1906173	rs_549794342	22 SubmittersRCV000414803 RCV000416049 RCV000576327 RCV002480270 RCV003155176 RCV003476003 RCV004551415
NM_001164508.2(NEB):c.23742+2T>C	SNV Germline	Chr2:151505476	Likely pathogenic	Nemaline myopathy 2 not specified Condition: not provided Arthrogryposis multiplex congenita 6 Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Sarcoma Nemaline myopathy	Criteria Provided Multiple Submitters No Conflicts	CA1906270	rs_545937015	12 SubmittersRCV000416472 RCV001195395 RCV001782898 RCV005018715 RCV003476005 RCV005900713 RCV005252884
NM_001164508.2(NEB):c.20956G>C (p.Asp6986His)	SNV Germline	Chr2:151538181	Conflicting classifications of pathogenicity	Condition: not provided Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Nemaline myopathy 2 NEB-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1907121	rs_150874422	8 SubmittersRCV000425742 RCV000550442 RCV002506082 RCV004551506 RCV004955486
NM_001164508.2(NEB):c.9619-2A>G	SNV Germline	Chr2:151630821	Pathogenic/Likely pathogenic	Condition: not provided Nemaline myopathy 2 Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Nemaline myopathy	Criteria Provided Multiple Submitters No Conflicts	CA1909252	rs_375145370	9 SubmittersRCV000444827 RCV000528659 RCV002480289 RCV004782377
NM_001164508.2(NEB):c.16273C>T (p.Gln5425Ter)	SNV Germline	Chr2:151581494	Likely pathogenic	Condition: not provided Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA16617243	rs_1064796311	2 SubmittersRCV000486583 RCV003470584
NM_139284.3(LGI4):c.793G>A (p.Ala265Thr)	SNV Germline	Chr19:35126853	Pathogenic	Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect	No Assertion Criteria Provided	CA9373252	rs_779232987	1 SubmittersRCV000487489
NM_139284.3(LGI4):c.863G>A (p.Trp288Ter)	SNV Germline	Chr19:35126706	Pathogenic	Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect	No Assertion Criteria Provided	CA16621544	rs_775997446	1 SubmittersRCV000487492
NM_139284.3(LGI4):c.793+5G>C	SNV Germline	Chr19:35126848	Pathogenic	Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect	No Assertion Criteria Provided	CA16621545	rs_1064797093	1 SubmittersRCV000487486
NM_139284.3(LGI4):c.1301T>A (p.Val434Asp)	SNV Germline	Chr19:35125506	Pathogenic	Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect	No Assertion Criteria Provided	CA16621546	rs_1064797094	1 SubmittersRCV000487490
NM_139284.3(LGI4):c.1299+5G>T	SNV Germline	Chr19:35126265	Pathogenic	Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect	No Assertion Criteria Provided	CA16621547	rs_1064797095	1 SubmittersRCV000487493
NM_139284.3(LGI4):c.773G>C (p.Arg258Pro)	SNV Germline	Chr19:35126873	Pathogenic	Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect	No Assertion Criteria Provided	CA9373257	rs_755500591	1 SubmittersRCV000487487
NM_000158.4(GBE1):c.1693C>T (p.Arg565Trp)	SNV Germline	Chr3:81537021	Conflicting classifications of pathogenicity	Condition: not provided Fetal akinesia deformation sequence 1 Arthrogryposis multiplex congenita Adult polyglucosan body disease Glycogen storage disease, type IV Glycogen storage disease, type IV Glycogen storage disease IV, classic hepatic not specified	Criteria Provided Conflicting Classifications	CA2499591	rs_552094593	7 SubmittersRCV000487962 RCV000855462 RCV001329659 RCV001829394 RCV002528222 RCV003330722
NM_001164508.2(NEB):c.21417+3A>G	SNV Germline	Chr2:151533439	Pathogenic/Likely pathogenic	Condition: not provided Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 NEB-related disorder Arthrogryposis multiplex congenita 6 Nemaline myopathy 2 Nemaline myopathy	Criteria Provided Multiple Submitters No Conflicts	CA1906977	rs_148950085	11 SubmittersRCV000493255 RCV001086213 RCV003470617 RCV004737563 RCV004796202 RCV005407155
NM_001164508.2(NEB):c.24588C>G (p.Tyr8196Ter)	SNV Germline	Chr2:151493859	Pathogenic	Condition: not provided Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA1905979	rs_754272530	6 SubmittersRCV000498615 RCV000670685 RCV003470620
NM_000540.3(RYR1):c.10620C>G (p.Tyr3540Ter)	SNV Germline	Chr19:38525496	Pathogenic	Arthrogryposis multiplex congenita	Criteria Provided Single Submitter	CA405644022	rs_758247804	1 SubmittersRCV000499002
NM_001164508.2(NEB):c.25336C>T (p.Arg8446Ter)	SNV Germline	Chr2:151490039	Pathogenic	Condition: not provided Nemaline myopathy 2 Nemaline myopathy Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA1905735	rs_200731870	8 SubmittersRCV000520480 RCV000665375 RCV001174690 RCV003476221
NM_001164508.2(NEB):c.25183C>T (p.Arg8395Ter)	SNV Germline	Chr2:151490486	Pathogenic/Likely pathogenic	Condition: not provided Nemaline myopathy 2 NEB-related disorder Arthrogryposis multiplex congenita 6 Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA1905784	rs_747179265	7 SubmittersRCV000522200 RCV000763062 RCV004553149 RCV004568671 RCV005901189
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	Condition: not provided Nemaline myopathy 2 Nemaline myopathy Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA1908708	rs_776569219	6 SubmittersRCV000521697 RCV000529040 RCV003993996 RCV003476222
NM_001164508.2(NEB):c.9047G>A (p.Arg3016Gln)	SNV Germline	Chr2:151636282	Conflicting classifications of pathogenicity	Condition: not provided Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Conflicting Classifications	CA1909431	rs_373587647	6 SubmittersRCV000519197 RCV000556075 RCV005398756
NM_001164508.2(NEB):c.3255+1G>A	SNV Germline	Chr2:151679720	Pathogenic	Condition: not provided Nemaline myopathy 2 Nemaline myopathy Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA1910960	rs_375628303	11 SubmittersRCV000519006 RCV000536181 RCV001192838 RCV003470651
NM_181789.4(GLDN):c.1428C>A (p.Phe476Leu)	SNV Germline	Chr15:51404526	Pathogenic/Likely pathogenic	Condition: not provided Fetal akinesia deformation sequence 1 Arthrogryposis multiplex congenita Lethal congenital contracture syndrome 11	Criteria Provided Multiple Submitters No Conflicts	CA7560758	rs_750803388	3 SubmittersRCV000524042 RCV000855464 RCV004594071
NM_001164508.2(NEB):c.24393+1G>A	SNV Germline	Chr2:151496940	Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA1906073	rs_775631800	4 SubmittersRCV000540499 RCV003470750
NM_001164508.2(NEB):c.5939T>C (p.Leu1980Ser)	SNV Germline	Chr2:151662166	Conflicting classifications of pathogenicity	Nemaline myopathy 2 Condition: not provided Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Conflicting Classifications	CA1910237	rs_375412223	8 SubmittersRCV000529425 RCV003129901 RCV002506339
NM_001164508.2(NEB):c.3007G>C (p.Val1003Leu)	SNV Germline	Chr2:151680765	Conflicting classifications of pathogenicity	Nemaline myopathy 2 Condition: not provided Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Conflicting Classifications	CA1911044	rs_149471462	4 SubmittersRCV000534614 RCV003133325 RCV005357587
NM_001164508.2(NEB):c.2920C>T (p.Arg974Ter)	SNV Germline	Chr2:151682685	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Nemaline myopathy	Criteria Provided Multiple Submitters No Conflicts	CA348821398	rs_1553548666	4 SubmittersRCV000530974 RCV001449887 RCV004017670
NM_001164508.2(NEB):c.20158-6A>G	SNV Germline	Chr2:151547744	Conflicting classifications of pathogenicity	not specified Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Nemaline myopathy	Criteria Provided Conflicting Classifications	CA658683265	rs_1553715636	5 SubmittersRCV000579107 RCV001834828 RCV002250662 RCV005252970
NM_001164508.2(NEB):c.11164C>T (p.Arg3722Ter)	SNV Germline	Chr2:151617381	Pathogenic/Likely pathogenic	Nemaline myopathy Nemaline myopathy 2 Condition: not provided Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA57640117	rs_928945364	8 SubmittersRCV000590386 RCV000674606 RCV003129932 RCV003157724
NM_001164508.2(NEB):c.24454C>T (p.Arg8152Ter)	SNV Germline	Chr2:151496308	Pathogenic/Likely pathogenic	Nemaline myopathy 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	10 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	7 SubmittersRCV000588345 RCV000666431 RCV001591353 RCV003465324
NM_005055.5(RAPSN):c.272G>T (p.Arg91Leu)	SNV Germline	Chr11:47448071	Conflicting classifications of pathogenicity	Condition: not provided Arthrogryposis multiplex congenita Fetal akinesia deformation sequence 1 Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 11 Fetal akinesia deformation sequence 2	Criteria Provided Conflicting Classifications	CA5976768	rs_375218091	6 SubmittersRCV000591406 RCV000855473 RCV001867917 RCV003465332
NM_004560.4(ROR2):c.808A>G (p.Ile270Val)	SNV Germline	Chr9:91733251	Conflicting classifications of pathogenicity	Condition: not provided Arthrogryposis multiplex congenita Fetal akinesia deformation sequence 1	Criteria Provided Conflicting Classifications	CA5120886	rs_145631389	4 SubmittersRCV000597894 RCV000855499
NM_001164508.2(NEB):c.10872+1G>T	SNV Germline	Chr2:151619450	Pathogenic	Nemaline myopathy Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter	CA348787368	rs_1336053002	2 SubmittersRCV005252996 RCV000611131
NM_001164508.2(NEB):c.24041T>C (p.Val8014Ala)	SNV Germline	Chr2:151499371	Conflicting classifications of pathogenicity	Nemaline myopathy 2 Condition: not provided NEB-related disorder Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Conflicting Classifications	CA1906159	rs_200269437	6 SubmittersRCV000690819 RCV003133394 RCV004737885 RCV005392165
NM_001164508.2(NEB):c.24579G>A (p.Ser8193=)	SNV Germline	Chr2:151494161	Pathogenic/Likely pathogenic	Inborn genetic diseases Nemaline myopathy 2 Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Condition: not provided Arthrogryposis multiplex congenita 6 Nemaline myopathy	Criteria Provided Multiple Submitters No Conflicts	CA1905995	rs_202048855	11 SubmittersRCV000623853 RCV000820159 RCV002506517 RCV003153763 RCV003465358 RCV004586841
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	6 SubmittersRCV000623280 RCV000787365 RCV001809702 RCV001756022
NM_001031711.3(ERGIC1):c.293T>A (p.Val98Glu)	SNV Germline	Chr5:172914756	Pathogenic	Arthrogryposis multiplex congenita 2, neurogenic type	No Assertion Criteria Provided	CA362152610	rs_1554112524	1 SubmittersRCV000626312
NM_001164508.2(NEB):c.7309C>T (p.Arg2437Trp)	SNV Germline	Chr2:151650298	Conflicting classifications of pathogenicity	Nemaline myopathy 2 Condition: not provided Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Conflicting Classifications	CA1909881	rs_375164626	8 SubmittersRCV000641337 RCV001662690 RCV002507092
NM_001164508.2(NEB):c.1493A>G (p.Asp498Gly)	SNV Germline	Chr2:151696713	Likely pathogenic	Nemaline myopathy 2 Condition: not provided Arthrogryposis multiplex congenita 6 Nemaline myopathy	Reviewed By Expert Panel	CA348825220	rs_1255744452	8 SubmittersRCV000641321 RCV003148813 RCV003472031 RCV005253019
NM_182961.4(SYNE1):c.25223A>G (p.His8408Arg)	SNV Germline	Chr6:152141226	Conflicting classifications of pathogenicity	Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Condition: not provided SYNE1-related disorder Autosomal recessive ataxia, Beauce type Arthrogryposis multiplex congenita 3, myogenic type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4052897	rs_375476506	6 SubmittersRCV000647632 RCV000713648 RCV004544876 RCV005046832
NM_139284.3(LGI4):c.1153C>T (p.Gln385Ter)	SNV Germline	Chr19:35126416	Pathogenic	Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect	No Assertion Criteria Provided	CA405304273	rs_1366269616	1 SubmittersRCV000664223
NM_139284.3(LGI4):c.200T>G (p.Leu67Arg)	SNV Germline	Chr19:35134075	Likely pathogenic	Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect	No Assertion Criteria Provided	CA405315145	rs_1555734932	1 SubmittersRCV000664224
NM_001164508.2(NEB):c.25297+1G>A	SNV Germline	Chr2:151490371	Likely pathogenic	Nemaline myopathy 2 Nemaline myopathy Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348770893	rs_113525641	5 SubmittersRCV000667580 RCV001584536 RCV002507159 RCV004568511
NM_001164508.2(NEB):c.19101+5G>A	SNV Germline	Chr2:151561203	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Nemaline myopathy	Criteria Provided Multiple Submitters No Conflicts	CA1907770	rs_374929094	7 SubmittersRCV000673418 RCV003465527 RCV004586872
NM_001164508.2(NEB):c.18865C>T (p.Arg6289Ter)	SNV Germline	Chr2:151562637	Pathogenic/Likely pathogenic	Nemaline myopathy 2 NEB-related disorder Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA1907832	rs_539819851	6 SubmittersRCV000668686 RCV003233799 RCV003472105
NM_001164508.2(NEB):c.25057+1G>A	SNV Germline	Chr2:151492097	Conflicting classifications of pathogenicity	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Nemaline myopathy	Criteria Provided Conflicting Classifications	CA348773126	rs_1191429915	4 SubmittersRCV000667178 RCV003465466 RCV005253037
NM_001164508.2(NEB):c.24300+1G>A	SNV Germline	Chr2:151497625	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Condition: not provided Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348778705	rs_1366853918	4 SubmittersRCV000666960 RCV001784242 RCV004568503
NM_001164508.2(NEB):c.24220G>T (p.Glu8074Ter)	SNV Germline	Chr2:151497706	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348779052	rs_1218073575	4 SubmittersRCV000668980 RCV004568519
NM_001164508.2(NEB):c.11076+1G>A	SNV Germline	Chr2:151618274	Conflicting classifications of pathogenicity	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Nemaline myopathy	Criteria Provided Conflicting Classifications	CA348785559	rs_1460365350	3 SubmittersRCV000667252 RCV003465471 RCV005253041
NM_001164508.2(NEB):c.24212T>A (p.Leu8071Ter)	SNV Germline	Chr2:151497714	Pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Nemaline myopathy	Criteria Provided Multiple Submitters No Conflicts	CA57668896	rs_756726488	4 SubmittersRCV000667053 RCV004568506 RCV005253033
NM_001164508.2(NEB):c.9414+1G>T	SNV Germline	Chr2:151633653	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348802530	rs_1255445731	3 SubmittersRCV000671664 RCV003472140
NM_001164508.2(NEB):c.23451+1G>T	SNV Germline	Chr2:151508004	Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA57676889	rs_1011425121	4 SubmittersRCV000674962 RCV003472177 RCV005027830
NM_001164508.2(NEB):c.23451+1G>C	SNV Germline	Chr2:151508004	Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348784998	rs_1011425121	3 SubmittersRCV000673508 RCV003472157
NM_001164508.2(NEB):c.9346G>T (p.Glu3116Ter)	SNV Germline	Chr2:151633722	Likely pathogenic	Nemaline myopathy 2 Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Nemaline myopathy	Criteria Provided Multiple Submitters No Conflicts	CA348802926	rs_193042896	3 SubmittersRCV000667092 RCV005019114 RCV005253034
NM_001164508.2(NEB):c.24022-1G>A	SNV Germline	Chr2:151499391	Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348779696	rs_1553561697	4 SubmittersRCV000668888 RCV003465486 RCV005019130
NM_001164508.2(NEB):c.23241+2T>A	SNV Germline	Chr2:151513578	Likely pathogenic	Nemaline myopathy 2 Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter	CA348750841	rs_1553615846	2 SubmittersRCV000665797 RCV005019106
NM_001164508.2(NEB):c.22489C>T (p.Arg7497Ter)	SNV Germline	Chr2:151519759	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Nemaline myopathy Condition: not provided Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA1906623	rs_760935667	10 SubmittersRCV000672682 RCV000781656 RCV001784275 RCV005027816 RCV003472148
NM_001164508.2(NEB):c.22800+1G>A	SNV Germline	Chr2:151518317	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Condition: not provided Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348759026	rs_1302373559	4 SubmittersRCV000669212 RCV001784256 RCV003472112
NM_001164508.2(NEB):c.21736-2A>G	SNV Germline	Chr2:151527587	Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348769191	rs_1389892619	3 SubmittersRCV000664684 RCV003472067
NM_001164508.2(NEB):c.22591-1G>C	SNV Germline	Chr2:151519070	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA1906588	rs_757157808	3 SubmittersRCV000665581 RCV003472071
NM_001164508.2(NEB):c.18981C>G (p.Tyr6327Ter)	SNV Germline	Chr2:151562125	Pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter	CA348796638	rs_761964375	3 SubmittersRCV000673447 RCV001449900
NM_001164508.2(NEB):c.18891+1G>A	SNV Germline	Chr2:151562610	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Condition: not provided Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348797233	rs_1443738549	9 SubmittersRCV000667258 RCV000731470 RCV002493092 RCV003465472
NM_001164508.2(NEB):c.9724-1G>A	SNV Germline	Chr2:151629647	Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348798509	rs_1553934586	3 SubmittersRCV000667250 RCV004568508
NM_001164508.2(NEB):c.9724-2A>G	SNV Unknown	Chr2:151629648	Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter	CA348798520	rs_1553934597	2 SubmittersRCV000666954 RCV004568502
NM_001164508.2(NEB):c.9414+1G>A	SNV Germline	Chr2:151633653	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348802536	rs_1255445731	3 SubmittersRCV000669140 RCV003459606
NM_001164508.2(NEB):c.2211+5G>A	SNV Germline	Chr2:151691859	Conflicting classifications of pathogenicity	Nemaline myopathy 2 Condition: not provided Arthrogryposis multiplex congenita 6 Nemaline myopathy not specified	Criteria Provided Conflicting Classifications	CA658823142	rs_797045736	7 SubmittersRCV000671466 RCV001784269 RCV003472138 RCV005253054 RCV005418288
NM_001164508.2(NEB):c.8889+1G>A	SNV Germline	Chr2:151639856	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348809045	rs_1553963960	7 SubmittersRCV000671973 RCV005019144
NM_001164508.2(NEB):c.20131C>T (p.Arg6711Trp)	SNV Germline	Chr2:151548334	Conflicting classifications of pathogenicity	Nemaline myopathy 2 not specified Condition: not provided Arthrogryposis multiplex congenita 6	Criteria Provided Conflicting Classifications	CA1907431	rs_533233215	8 SubmittersRCV000670617 RCV002509500 RCV003129984 RCV003465501
NM_001164508.2(NEB):c.1674+2T>C	SNV Germline	Chr2:151695576	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348824801	rs_1553603437	4 SubmittersRCV000664673 RCV003472066
NM_001164508.2(NEB):c.18676C>T (p.Gln6226Ter)	SNV Germline	Chr2:151563623	Pathogenic	Nemaline myopathy 2 Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Nemaline myopathy	Criteria Provided Multiple Submitters No Conflicts	CA348798689	rs_1475648900	4 SubmittersRCV000673657 RCV002499187 RCV003226364
NM_001164508.2(NEB):c.20659C>T (p.Arg6887Ter)	SNV Germline	Chr2:151541470	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Nemaline myopathy Inborn genetic diseases Condition: not provided Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA1907202	rs_749452641	6 SubmittersRCV000674087 RCV001194218 RCV003243248 RCV003325512 RCV003472164
NM_001164508.2(NEB):c.613-1G>C	SNV Germline	Chr2:151723487	Likely pathogenic	Nemaline myopathy 2 Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA1911833	rs_767693366	3 SubmittersRCV000666879 RCV005019112
NM_001164508.2(NEB):c.11181+2T>C	SNV Unknown	Chr2:151617362	Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter	CA348784677	rs_1553904694	2 SubmittersRCV000673522 RCV004568555
NM_001164508.2(NEB):c.18808C>T (p.Arg6270Ter)	SNV Germline	Chr2:151562694	Pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Nemaline myopathy	Criteria Provided Multiple Submitters No Conflicts	CA57656219	rs_754369875	5 SubmittersRCV000668497 RCV003472100 RCV005253048
NM_001164508.2(NEB):c.4506+1G>A	SNV Germline	Chr2:151671022	Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA1910615	rs_112517981	3 SubmittersRCV000669059 RCV003472110
NM_001164508.2(NEB):c.11910+1G>A	SNV Germline	Chr2:151610761	Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Condition: not provided Nemaline myopathy	Reviewed By Expert Panel	CA57635829	rs_774495973	7 SubmittersRCV000667256 RCV004568509 RCV003133493 RCV005253043
NM_001164508.2(NEB):c.37-1G>A	SNV Germline	Chr2:151729657	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Multiple Submitters No Conflicts	CA348797091	rs_1428597732	4 SubmittersRCV000667927 RCV003459591 RCV005019123
NM_001164508.2(NEB):c.3879+1G>A	SNV Germline	Chr2:151675286	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Nemaline myopathy Condition: not provided Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA1910808	rs_746999970	6 SubmittersRCV000670383 RCV002265844 RCV003442015 RCV003465499
NM_001164508.2(NEB):c.2943+1G>A	SNV Germline	Chr2:151682661	Pathogenic	Nemaline myopathy 2 Nemaline myopathy Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA1911078	rs_113091511	4 SubmittersRCV000667067 RCV001255511 RCV003465461
NM_001164508.2(NEB):c.2416-1G>C	SNV Germline	Chr2:151687734	Likely pathogenic	Nemaline myopathy 2 Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348823037	rs_1553565278	3 SubmittersRCV000672789 RCV005019149
NM_001164508.2(NEB):c.1570-2A>G	SNV Germline	Chr2:151695684	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Condition: not provided Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348825053	rs_1553603958	4 SubmittersRCV000674550 RCV000729399 RCV004568566
NM_001164508.2(NEB):c.1569+1G>A	SNV Germline	Chr2:151696636	Conflicting classifications of pathogenicity	Nemaline myopathy 2 Condition: not provided Arthrogryposis multiplex congenita 6 Nemaline myopathy	Criteria Provided Conflicting Classifications	CA348825059	rs_1553605553	6 SubmittersRCV000667222 RCV001784247 RCV003465470 RCV005253039
NM_001164508.2(NEB):c.6076-1G>T	SNV Germline	Chr2:151658091	Likely pathogenic	Nemaline myopathy 2 Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Arthrogryposis multiplex congenita 6 Nemaline myopathy	Reviewed By Expert Panel	CA348802582	rs_1553469502	5 SubmittersRCV000668960 RCV005019131 RCV003465487 RCV004732994
NM_001164508.2(NEB):c.1365+2T>C	SNV Germline	Chr2:151697348	Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA57677350	rs_770797137	5 SubmittersRCV000667221 RCV004568507 RCV005027788
NM_001164508.2(NEB):c.3567+1G>C	SNV Unknown	Chr2:151677875	Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter	CA348818815	rs_587780399	2 SubmittersRCV000675022 RCV003472181
NM_001164508.2(NEB):c.1258-2A>G	SNV Germline	Chr2:151697459	Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348825795	rs_1553608621	3 SubmittersRCV000667220 RCV003465469
NM_001164508.2(NEB):c.5763+5G>A	SNV Germline	Chr2:151663543	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 NEB-related disorder Nemaline myopathy	Criteria Provided Multiple Submitters No Conflicts	CA1910287	rs_776167256	6 SubmittersRCV000667575 RCV004568510 RCV004698847 RCV005253046
NM_001164508.2(NEB):c.4337G>T (p.Gly1446Val)	SNV Germline	Chr2:151671192	Likely pathogenic	Nemaline myopathy 2 Nemaline myopathy Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Multiple Submitters No Conflicts	CA348815947	rs_541803470	4 SubmittersRCV000666609 RCV001553645 RCV005027784
NM_001164508.2(NEB):c.3874A>G (p.Ser1292Gly)	SNV Germline	Chr2:151675292	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Arthrogryposis multiplex congenita 6 Nemaline myopathy 2 Nemaline myopathy	Criteria Provided Multiple Submitters No Conflicts	CA348817869	rs_1553521537	5 SubmittersRCV000667109 RCV003465463 RCV005019115 RCV005253035
NM_001164508.2(NEB):c.1470+1G>A	SNV Germline	Chr2:151697147	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Condition: not provided Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348825282	rs_1220787593	4 SubmittersRCV000672930 RCV001784279 RCV005019150
NM_001164508.2(NEB):c.3255+1G>C	SNV Germline	Chr2:151679720	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Arthrogryposis multiplex congenita 6 Nemaline myopathy 2 Nemaline myopathy	Criteria Provided Multiple Submitters No Conflicts	CA1910961	rs_375628303	7 SubmittersRCV000668568 RCV003459598 RCV005019127 RCV005253050
NM_001164508.2(NEB):c.78+1G>A	SNV Germline	Chr2:151729614	Pathogenic	Nemaline myopathy 2 Nemaline myopathy Condition: not provided Arthrogryposis multiplex congenita 6 NEB-related disorder Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Reviewed By Expert Panel	CA1912012	rs_778593702	9 SubmittersRCV000667209 RCV000781651 RCV001784246 RCV003465467 RCV004547838 RCV005019117
NM_001164508.2(NEB):c.1153-2A>G	SNV Germline	Chr2:151697650	Conflicting classifications of pathogenicity	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Nemaline myopathy	Criteria Provided Conflicting Classifications	CA348826047	rs_1553609515	4 SubmittersRCV000667210 RCV003465468 RCV005253038
NM_000113.3(TOR1A):c.862C>T (p.Arg288Ter)	SNV Germline	Chr9:129814109	Pathogenic/Likely pathogenic	Early-onset generalized limb-onset dystonia Arthrogryposis multiplex congenita 5 Condition: not provided Dystonic disorder	Criteria Provided Multiple Submitters No Conflicts	CA5278519	rs_760768475	11 SubmittersRCV000677723 RCV001250912 RCV001592856 RCV005091969
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	CA348780470	rs_1202510810	4 SubmittersRCV000705808 RCV002485766 RCV003130021
NM_001164508.2(NEB):c.25172G>A (p.Arg8391Gln)	SNV Germline	Chr2:151490497	Conflicting classifications of pathogenicity	Nemaline myopathy 2 Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Condition: not provided	Criteria Provided Conflicting Classifications	CA1905787	rs_749034995	6 SubmittersRCV000686525 RCV002493148 RCV003133508
NM_001164508.2(NEB):c.5495T>C (p.Ile1832Thr)	SNV Germline	Chr2:151663816	Conflicting classifications of pathogenicity	Nemaline myopathy 2 Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1910351	rs_751494785	7 SubmittersRCV000696117 RCV002477581 RCV003133544 RCV004026366
NM_001164508.2(NEB):c.17242C>T (p.Arg5748Trp)	SNV Germline	Chr2:151570269	Conflicting classifications of pathogenicity	Nemaline myopathy 2 Condition: not provided Inborn genetic diseases Arthrogryposis multiplex congenita 6	Criteria Provided Conflicting Classifications	CA1908255	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 Nemaline myopathy	Criteria Provided Multiple Submitters No Conflicts	CA1910381	rs_201636991	3 SubmittersRCV000703915 RCV003465629 RCV005253083
NM_001164508.2(NEB):c.22170C>G (p.Tyr7390Ter)	SNV Germline	Chr2:151525265	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Nemaline myopathy Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Arthrogryposis multiplex congenita 6 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA1906743	rs_748922882	6 SubmittersRCV000701148 RCV000781648 RCV002499258 RCV003465616 RCV004719960
NM_001164508.2(NEB):c.21970A>C (p.Lys7324Gln)	SNV Germline	Chr2:151526238	Conflicting classifications of pathogenicity	Nemaline myopathy 2 Condition: not provided Arthrogryposis multiplex congenita 6 Nemaline myopathy 2 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1906820	rs_756646859	6 SubmittersRCV000704917 RCV002286785 RCV002477626 RCV005372416
NM_139284.3(LGI4):c.2T>C (p.Met1Thr)	SNV Germline	Chr19:35134679	Pathogenic	Arthrogryposis multiplex congenita 2, neurogenic type	Criteria Provided Single Submitter	CA405315627	rs_1207534366	1 SubmittersRCV000766216
NM_001164508.2(NEB):c.1161C>G (p.Tyr387Ter)	SNV Germline	Chr2:151697640	Pathogenic/Likely pathogenic	Condition: not provided Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348826023	rs_1259297878	3 SubmittersRCV000712377 RCV001059086 RCV003465650
NM_004560.4(ROR2):c.1675G>A (p.Gly559Ser)	SNV Germline	Chr9:91724819	Conflicting classifications of pathogenicity	not specified Fetal akinesia deformation sequence 1 Arthrogryposis multiplex congenita Condition: not provided Short stature Brachydactyly type B1 Autosomal recessive Robinow syndrome Gastric cancer	Criteria Provided Conflicting Classifications	CA5120613	rs_117134265	8 SubmittersRCV000732649 RCV000855500 RCV000903196 RCV001310261 RCV005047000 RCV005897260
NM_001198800.3(ASCC1):c.626+1G>A	SNV Germline	Chr10:72161537	Pathogenic/Likely pathogenic	Arthrogryposis multiplex congenita Fetal akinesia deformation sequence 1 Fetal akinesia deformation sequence 1 Spinal muscular atrophy with congenital bone fractures 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA5548982	rs_747595523	8 SubmittersRCV000855457 RCV001004046 RCV000791458 RCV001796204
NM_001164508.2(NEB):c.19030C>T (p.Gln6344Ter)	SNV Germline	Chr2:151561279	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348795582	rs_1559940778	2 SubmittersRCV000778566 RCV003465706
NM_001378183.1(PIEZO2):c.1384C>T (p.Arg462Ter)	SNV Germline	Chr18:10797517	Pathogenic	Arthrogryposis, distal, with impaired proprioception and touch Fetal akinesia deformation sequence 1 Arthrogryposis multiplex congenita	Criteria Provided Single Submitter	CA401925060	rs_1568069621	2 SubmittersRCV000779589 RCV000855470
NM_001164508.2(NEB):c.25136T>G (p.Leu8379Ter)	SNV Germline	Chr2:151491697	Pathogenic	Nemaline myopathy Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA1905811	rs_760200697	4 SubmittersRCV000781652 RCV001214341 RCV004569492
NM_001164508.2(NEB):c.21793C>T (p.Arg7265Ter)	SNV Germline	Chr2:151527528	Pathogenic/Likely pathogenic	Nemaline myopathy Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Condition: not provided Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA1906876	rs_750900690	5 SubmittersRCV000780533 RCV001869153 RCV003467310 RCV004719983 RCV005029436
NM_001164508.2(NEB):c.20554G>T (p.Glu6852Ter)	SNV Germline	Chr2:151545911	Pathogenic/Likely pathogenic	Nemaline myopathy Nemaline myopathy 2 Condition: not provided Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA1907244	rs_777819332	4 SubmittersRCV000780532 RCV001384439 RCV001731923 RCV005029435
NM_182961.4(SYNE1):c.26236C>T (p.Arg8746Ter)	SNV Germline	Chr6:152122594	Pathogenic/Likely pathogenic	Arthrogryposis multiplex congenita 3, myogenic type Cleft lip/palate	Criteria Provided Multiple Submitters No Conflicts	CA4052600	rs_746177326	3 SubmittersRCV000787309 RCV005626209
NM_001164508.2(NEB):c.24650G>A (p.Arg8217His)	SNV Germline	Chr2:151493797	Conflicting classifications of pathogenicity	Nemaline myopathy 2 Condition: not provided Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Conflicting Classifications	CA1905968	rs_201291446	5 SubmittersRCV000822717 RCV003130076 RCV002501141
NM_001164508.2(NEB):c.24579G>C (p.Ser8193=)	SNV Germline	Chr2:151494161	Pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Arthrogryposis multiplex congenita 6 Nemaline myopathy 2 Nemaline myopathy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA1905996	rs_202048855	6 SubmittersRCV000814228 RCV003472421 RCV005029499 RCV005253145 RCV005645182
NM_001164508.2(NEB):c.24172C>T (p.Gln8058Ter)	SNV Germline	Chr2:151498295	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348779212	rs_1323364980	2 SubmittersRCV000795495 RCV003472345
NM_001164508.2(NEB):c.23626C>T (p.Gln7876Ter)	SNV Germline	Chr2:151506189	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA1906309	rs_537560378	2 SubmittersRCV000800326 RCV003467382
NM_001164508.2(NEB):c.18859C>T (p.Arg6287Cys)	SNV Germline	Chr2:151562643	Conflicting classifications of pathogenicity	Nemaline myopathy 2 Condition: not provided Arthrogryposis multiplex congenita 6 Nemaline myopathy 2 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1907835	rs_374606967	7 SubmittersRCV000801391 RCV002222638 RCV002507387 RCV004639361
NM_001164508.2(NEB):c.8381A>T (p.Tyr2794Phe)	SNV Germline	Chr2:151640659	Conflicting classifications of pathogenicity	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Nemaline myopathy 2 Condition: not provided Arthrogryposis multiplex congenita 6 Nemaline myopathy	Criteria Provided Conflicting Classifications	CA1909597	rs_750548574	8 SubmittersRCV000810643 RCV002507410 RCV003130061 RCV003467443 RCV005253141
NM_001164508.2(NEB):c.6481C>T (p.Arg2161Cys)	SNV Germline	Chr2:151656167	Conflicting classifications of pathogenicity	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Nemaline myopathy 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA1910094	rs_201758329	4 SubmittersRCV000821245 RCV002487840 RCV003132105
NM_001164508.2(NEB):c.717+1G>A	SNV Germline	Chr2:151723381	Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348790210	rs_1577833924	2 SubmittersRCV000793645 RCV003467335
NM_001164508.2(NEB):c.1674+1G>A	SNV Germline	Chr2:151695577	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348824805	rs_750585238	2 SubmittersRCV000807407 RCV003467420
NM_182961.4(SYNE1):c.16390-2A>G	SNV Germline	Chr6:152318265	Pathogenic/Likely pathogenic	Autosomal recessive ataxia, Beauce type Autosomal recessive cerebellar ataxia Inborn genetic diseases Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Arthrogryposis multiplex congenita 3, myogenic type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Multiple Submitters No Conflicts	CA366112657	rs_759460806	8 SubmittersRCV000002415 RCV000826129 RCV001265815 RCV000993140 RCV001383383 RCV005036235
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 not specified	Criteria Provided Conflicting Classifications	CA602099	rs_79282181	5 SubmittersRCV000855522 RCV002064422 RCV003908141 RCV006448650
NM_018136.5(ASPM):c.2863C>T (p.Gln955Ter)	SNV Germline	Chr1:197128563	Pathogenic	Arthrogryposis multiplex congenita Fetal akinesia deformation sequence 1 Microcephaly 5, primary, autosomal recessive Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA1310334	rs_774338373	3 SubmittersRCV000855491 RCV003453775 RCV001816923
NM_001100.4(ACTA1):c.739G>A (p.Gly247Arg)	SNV Germline	Chr1:229432063	Pathogenic	Arthrogryposis multiplex congenita Fetal akinesia deformation sequence 1 Actin accumulation myopathy Condition: not provided Congenital myopathy 2b, severe infantile, autosomal recessive Congenital myopathy 2c, severe infantile, autosomal dominant Progressive scapulohumeroperoneal distal myopathy Actin accumulation myopathy	Criteria Provided Multiple Submitters No Conflicts	CA345146753	rs_1057521117	4 SubmittersRCV000855456 RCV003517274 RCV005628863 RCV006605306
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	CA350998301	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	CA358089925	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	CA3067930	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	CA370431037	rs_1588980220	2 SubmittersRCV000855490 RCV002536200
NM_177924.5(ASAH1):c.88G>A (p.Asp30Asn)	SNV Germline	Chr8:18075578	Conflicting classifications of pathogenicity	Arthrogryposis multiplex congenita Fetal akinesia deformation sequence 1 Condition: not provided Farber lipogranulomatosis	Criteria Provided Conflicting Classifications	CA4651083	rs_200758704	4 SubmittersRCV000855489 RCV000983934 RCV001164025
NM_005055.5(RAPSN):c.794C>T (p.Ala265Val)	SNV Germline	Chr11:47441729	Conflicting classifications of pathogenicity	Arthrogryposis multiplex congenita Fetal akinesia deformation sequence 1 Fetal akinesia deformation sequence 2	Criteria Provided Conflicting Classifications	CA380329822	rs_1040279711	2 SubmittersRCV000855474 RCV005359606
NM_001330260.2(SCN8A):c.719T>C (p.Ile240Thr)	SNV Germline	Chr12:51699582	Likely pathogenic	Arthrogryposis multiplex congenita Fetal akinesia deformation sequence 1 Developmental and epileptic encephalopathy, 13	Criteria Provided Multiple Submitters No Conflicts	CA385226373	rs_1592387849	2 SubmittersRCV000855503 RCV001775152
NM_052867.4(NALCN):c.1783G>T (p.Val595Phe)	SNV Germline	Chr13:101176356	Likely pathogenic	Arthrogryposis multiplex congenita Fetal akinesia deformation sequence 1	Criteria Provided Single Submitter	CA388702919	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	CA388704839	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	CA7036526	rs_762389271	1 SubmittersRCV000855469
NM_001376.5(DYNC1H1):c.10357G>A (p.Val3453Ile)	SNV Germline	Chr14:102033428	Conflicting classifications of pathogenicity	Fetal akinesia deformation sequence 1 Arthrogryposis multiplex congenita Charcot-Marie-Tooth disease axonal type 2O Condition: not provided	Criteria Provided Conflicting Classifications	CA7353397	rs_778115137	3 SubmittersRCV000855520 RCV001366306 RCV006450363
NM_001376.5(DYNC1H1):c.12600G>T (p.Gly4200=)	SNV Germline	Chr14:102043961	Conflicting classifications of pathogenicity	Fetal akinesia deformation sequence 1 Arthrogryposis multiplex congenita Charcot-Marie-Tooth disease axonal type 2O	Criteria Provided Conflicting Classifications	CA488186538	rs_1595633027	2 SubmittersRCV000855523 RCV001367404
NM_001083614.2(EARS2):c.814G>A (p.Ala272Thr)	SNV Germline	Chr16:23535032	Conflicting classifications of pathogenicity	Fetal akinesia deformation sequence 1 Arthrogryposis multiplex congenita Condition: not provided Mitochondrial disease	Criteria Provided Conflicting Classifications	CA7962501	rs_749912939	4 SubmittersRCV000855494 RCV001310323 RCV005359607
NM_003632.3(CNTNAP1):c.69C>G (p.Tyr23Ter)	SNV Germline	Chr17:42683822	Pathogenic	Arthrogryposis multiplex congenita Fetal akinesia deformation sequence 1	Criteria Provided Single Submitter	CA399632041	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	CA399642944	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	CA400631560	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	CA8892803	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	CA405305171	rs_1201430967	1 SubmittersRCV000855466
NM_139284.3(LGI4):c.504G>C (p.Trp168Cys)	SNV Germline	Chr19:35131510	Conflicting classifications of pathogenicity	Arthrogryposis multiplex congenita Fetal akinesia deformation sequence 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA9373323	rs_201728190	2 SubmittersRCV000855465 RCV004820124
NM_000540.3(RYR1):c.1835C>A (p.Ala612Asp)	SNV Unknown	Chr19:38457540	Likely pathogenic	Arthrogryposis multiplex congenita Fetal akinesia deformation sequence 1	Criteria Provided Single Submitter	CA405693870	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	CA062941	rs_755496104	1 SubmittersRCV000855475
NM_000540.3(RYR1):c.7298T>C (p.Leu2433Pro)	SNV Germline	Chr19:38499991	Conflicting classifications of pathogenicity	Fetal akinesia deformation sequence 1 Arthrogryposis multiplex congenita Condition: not provided RYR1-related disorder	Criteria Provided Conflicting Classifications	CA405669567	rs_1600822174	3 SubmittersRCV000855484 RCV002275162 RCV003117621
NM_000540.3(RYR1):c.8024C>A (p.Thr2675Lys)	SNV Germline	Chr19:38504317	Likely pathogenic	Arthrogryposis multiplex congenita Fetal akinesia deformation sequence 1 Centronuclear myopathy	Criteria Provided Multiple Submitters No Conflicts	CA405676016	rs_1600843056	2 SubmittersRCV000855478 RCV004586957
NM_000540.3(RYR1):c.10018G>A (p.Val3340Met)	SNV Germline	Chr19:38517691	Conflicting classifications of pathogenicity	Arthrogryposis multiplex congenita Fetal akinesia deformation sequence 1 Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA405693508	rs_1600892115	2 SubmittersRCV000855480 RCV004803279
NM_000540.3(RYR1):c.13998G>A (p.Lys4666=)	SNV Unknown	Chr19:38572270	Likely pathogenic	Arthrogryposis multiplex congenita Fetal akinesia deformation sequence 1	Criteria Provided Single Submitter	CA507356267	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	CA415073373	rs_1603040061	1 SubmittersRCV000855493
NM_001164508.2(NEB):c.23140C>T (p.Arg7714Ter)	SNV Germline	Chr2:151513681	Pathogenic	Nemaline myopathy 2 Nemaline myopathy Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348751942	rs_1575714905	5 SubmittersRCV000986832 RCV001526961 RCV003467544
NM_001164508.2(NEB):c.22327C>T (p.Arg7443Ter)	SNV Germline	Chr2:151524562	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348765022	rs_1576203853	3 SubmittersRCV000986834 RCV004569829
NM_001164508.2(NEB):c.10612C>T (p.Arg3538Ter)	SNV Germline	Chr2:151619711	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348788689	rs_779909544	4 SubmittersRCV000986840 RCV005021290 RCV004569830
NM_017988.6(SCYL2):c.106C>T (p.Arg36Ter)	SNV Germline	Chr12:100283076	Pathogenic	Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum	Criteria Provided Single Submitter	CA6737976	rs_760124743	2 SubmittersRCV001000099
NM_001164508.2(NEB):c.13147C>T (p.Gln4383Ter)	SNV Germline	Chr2:151603685	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 NEB-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA348772320	rs_1212374733	4 SubmittersRCV001004942 RCV003467576 RCV004553551
NM_001164508.2(NEB):c.24988C>T (p.Arg8330Ter)	SNV Germline	Chr2:151492167	Pathogenic	Nemaline myopathy 2 Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Condition: not provided Nemaline myopathy Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA1905855	rs_767709270	7 SubmittersRCV001007837 RCV002497328 RCV003141928 RCV003117687 RCV003473553
NM_001164508.2(NEB):c.12330+2T>C	SNV Germline	Chr2:151609807	Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Nemaline myopathy	Criteria Provided Multiple Submitters No Conflicts	CA348776468	rs_1374971806	3 SubmittersRCV001027690 RCV003467698 RCV005253684
NM_001164508.2(NEB):c.7964A>G (p.Tyr2655Cys)	SNV Germline	Chr2:151643346	Conflicting classifications of pathogenicity	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Nemaline myopathy Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Conflicting Classifications	CA348813999	rs_1389374032	4 SubmittersRCV001044618 RCV003467734 RCV005253690 RCV005021365
NM_001164508.2(NEB):c.6262G>A (p.Val2088Ile)	SNV Germline	Chr2:151656386	Conflicting classifications of pathogenicity	Nemaline myopathy 2 Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1910136	rs_747729019	4 SubmittersRCV001049602 RCV002481951 RCV006367584
NM_001164508.2(NEB):c.17845-2A>T	SNV Germline	Chr2:151567481	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Nemaline myopathy	Criteria Provided Multiple Submitters No Conflicts	CA348804231	rs_1177405905	3 SubmittersRCV001050990 RCV005029617 RCV005253694
NM_001164508.2(NEB):c.3879+2T>C	SNV Germline	Chr2:151675285	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348817851	rs_2099350888	2 SubmittersRCV001048753 RCV005021371
NM_001164508.2(NEB):c.12639+1G>A	SNV Germline	Chr2:151607503	Pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348774681	rs_2097758221	2 SubmittersRCV001048805 RCV003462542
NM_001164508.2(NEB):c.17118+1G>A	SNV Germline	Chr2:151570496	Pathogenic	Nemaline myopathy 2 Nemaline myopathy Condition: not provided Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA1908300	rs_747946275	5 SubmittersRCV001043979 RCV001824918 RCV001784590 RCV002481909
NM_001164508.2(NEB):c.22479G>C (p.Gln7493His)	SNV Germline	Chr2:151524311	Pathogenic/Likely pathogenic	Condition: not provided Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348764340	rs_1474341248	2 SubmittersRCV001091990 RCV003469285
NM_001164508.2(NEB):c.18157-2A>G	SNV Germline	Chr2:151565822	Pathogenic/Likely pathogenic	Condition: not provided Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Multiple Submitters No Conflicts	CA57659278	rs_925947627	3 SubmittersRCV001091991 RCV003469286 RCV003769022
NM_001164508.2(NEB):c.11717G>A (p.Arg3906His)	SNV Germline	Chr2:151612274	Conflicting classifications of pathogenicity	Nemaline myopathy 2 Condition: not provided not specified Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Conflicting Classifications	CA1908693	rs_556930902	8 SubmittersRCV001134806 RCV001508087 RCV003331049 RCV002491403
NM_001164508.2(NEB):c.5565C>A (p.Asp1855Glu)	SNV Germline	Chr2:151663746	Conflicting classifications of pathogenicity	Nemaline myopathy 2 Condition: not provided Arthrogryposis multiplex congenita 6 Nemaline myopathy 2 NEB-related disorder	Criteria Provided Conflicting Classifications	CA1910339	rs_200468391	5 SubmittersRCV001133833 RCV001553418 RCV005394756 RCV004548010
NM_001164508.2(NEB):c.3571G>A (p.Val1191Ile)	SNV Germline	Chr2:151677768	Conflicting classifications of pathogenicity	Nemaline myopathy 2 Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1910867	rs_767493706	6 SubmittersRCV001135461 RCV002491404 RCV003438662 RCV005443249
NM_182961.4(SYNE1):c.11477A>G (p.Lys3826Arg)	SNV Germline	Chr6:152352130	Conflicting classifications of pathogenicity	Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Condition: not provided Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Arthrogryposis multiplex congenita 3, myogenic type	Criteria Provided Conflicting Classifications	CA4056684	rs_76410834	4 SubmittersRCV001151368 RCV001151369 RCV001340078 RCV003142081 RCV005394769
NM_182961.4(SYNE1):c.3481G>A (p.Gly1161Arg)	SNV Germline	Chr6:152449556	Conflicting classifications of pathogenicity	Autosomal recessive ataxia, Beauce type Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Emery-Dreifuss muscular dystrophy 4, autosomal dominant Condition: not provided Arthrogryposis multiplex congenita 3, myogenic type Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Conflicting Classifications	CA4058835	rs_149415204	4 SubmittersRCV001156270 RCV001859019 RCV001156271 RCV003142086 RCV005394770
NM_001164508.2(NEB):c.22831C>T (p.Arg7611Ter)	SNV Germline	Chr2:151516533	Pathogenic	Nemaline myopathy Condition: not provided Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA1906519	rs_555582398	7 SubmittersRCV001175588 RCV001580057 RCV001222350 RCV004570330
NM_001164508.2(NEB):c.9775C>T (p.Arg3259Ter)	SNV Germline	Chr2:151629595	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Condition: not provided Nemaline myopathy	Criteria Provided Multiple Submitters No Conflicts	CA348798091	rs_1301228529	5 SubmittersRCV001222507 RCV003469384 RCV005021528 RCV005633958 RCV005253747
NM_001164508.2(NEB):c.24402C>G (p.Tyr8134Ter)	SNV Germline	Chr2:151496360	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Abnormality of the musculature Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA1906056	rs_758277406	3 SubmittersRCV001212317 RCV001814281 RCV005029770
NM_001164508.2(NEB):c.2647C>T (p.Arg883Ter)	SNV Germline	Chr2:151684966	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348822477	rs_1333519240	3 SubmittersRCV001201520 RCV003469320
NM_001164508.2(NEB):c.580C>T (p.Gln194Ter)	SNV Germline	Chr2:151724292	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348791984	rs_1032240985	2 SubmittersRCV001235353 RCV003469430
NM_001164508.2(NEB):c.19903G>A (p.Asp6635Asn)	SNV Germline	Chr2:151551779	Conflicting classifications of pathogenicity	Nemaline myopathy 2 Inborn genetic diseases Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Conflicting Classifications	CA1907501	rs_534519331	4 SubmittersRCV001241152 RCV004960625 RCV005394867
NM_001164508.2(NEB):c.19851T>A (p.Tyr6617Ter)	SNV Germline	Chr2:151551831	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348787326	rs_2095359371	2 SubmittersRCV001241288 RCV003473820
NM_001164508.2(NEB):c.19724G>A (p.Arg6575His)	SNV Germline	Chr2:151553405	Conflicting classifications of pathogenicity	Nemaline myopathy 2 Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Condition: not provided	Criteria Provided Conflicting Classifications	CA1907558	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	CA1910710	rs_762809955	3 SubmittersRCV001242827 RCV003448382
NM_000113.3(TOR1A):c.952G>A (p.Gly318Ser)	SNV Germline	Chr9:129814019	Pathogenic	Arthrogryposis multiplex congenita 5	No Assertion Criteria Provided	CA375197434	rs_2030965698	1 SubmittersRCV001250910
NM_139284.3(LGI4):c.1272C>A (p.Cys424Ter)	SNV Germline	Chr19:35126297	Likely pathogenic	Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect	Criteria Provided Single Submitter	CA405303811	rs_2065136111	1 SubmittersRCV001251121
NM_001164508.2(NEB):c.1152+1G>T	SNV Germline	Chr2:151706880	Pathogenic	Nemaline myopathy Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA1911683	rs_398124167	4 SubmittersRCV001251277 RCV001830055 RCV003469483
NM_001384125.1(BLTP1):c.3323+1G>A	SNV Germline	Chr4:122230212	Likely pathogenic	Severe hydrocephalus Arthrogryposis multiplex congenita Clubfoot	Criteria Provided Single Submitter	CA3066103	rs_775292946	1 SubmittersRCV001257375
NM_001164508.2(NEB):c.20033G>A (p.Arg6678His)	SNV Germline	Chr2:151549652	Conflicting classifications of pathogenicity	Nemaline myopathy 2 Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA348786576	rs_1487589344	4 SubmittersRCV001279751 RCV002480915 RCV003365298
NM_001164508.2(NEB):c.1544A>G (p.Gln515Arg)	SNV Germline	Chr2:151696662	Conflicting classifications of pathogenicity	Nemaline myopathy 2 Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1911545	rs_368150737	6 SubmittersRCV001317075 RCV002493656 RCV003132405 RCV004034411
NM_001164508.2(NEB):c.9580C>T (p.Gln3194Ter)	SNV Germline	Chr2:151631181	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Nemaline myopathy	Criteria Provided Multiple Submitters No Conflicts	CA348799770	rs_2098659971	4 SubmittersRCV001907888 RCV005014731 RCV005253913
NM_001164508.2(NEB):c.20132G>A (p.Arg6711Gln)	SNV Germline	Chr2:151548333	Conflicting classifications of pathogenicity	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Nemaline myopathy 2 Condition: not provided Inborn genetic diseases Melanoma	Criteria Provided Conflicting Classifications	CA1907430	rs_781250495	6 SubmittersRCV001337749 RCV002504528 RCV003130477 RCV005443327 RCV005911123
NM_001164508.2(NEB):c.25390C>A (p.Pro8464Thr)	SNV Germline	Chr2:151489985	Conflicting classifications of pathogenicity	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Conflicting Classifications	CA1905727	rs_376984481	3 SubmittersRCV001374092 RCV004815490
NM_001164508.2(NEB):c.18472-1G>C	SNV Germline	Chr2:151563931	Likely pathogenic	Nemaline myopathy 2 Nemaline myopathy Arthrogryposis multiplex congenita 6 Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348800471	rs_1203257517	5 SubmittersRCV001377790 RCV002307737 RCV002504630 RCV003473906
NM_001164508.2(NEB):c.12330+5G>A	SNV Germline	Chr2:151609804	Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Nemaline myopathy	Criteria Provided Multiple Submitters No Conflicts	CA1908541	rs_763163879	3 SubmittersRCV001378886 RCV003469637 RCV005253825
NM_001164508.2(NEB):c.10144-2A>G	SNV Germline	Chr2:151627207	Conflicting classifications of pathogenicity	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Nemaline myopathy	Criteria Provided Conflicting Classifications	CA348793739	rs_1435980710	3 SubmittersRCV001377109 RCV003469622 RCV005253818
NM_001164508.2(NEB):c.4611+1G>A	SNV Germline	Chr2:151669026	Likely pathogenic	Nemaline myopathy 2 Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348814909	rs_1233792020	2 SubmittersRCV001376875 RCV005023118
NM_001164508.2(NEB):c.4507-1G>A	SNV Germline	Chr2:151669132	Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Multiple Submitters No Conflicts	CA348815170	rs_2154185810	2 SubmittersRCV001377628 RCV002499776
NM_001164508.2(NEB):c.2836-2A>G	SNV Germline	Chr2:151682771	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Condition: not provided Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348821755	rs_1208297049	4 SubmittersRCV001379441 RCV001780296 RCV003462962
NM_001164508.2(NEB):c.928-1G>A	SNV Germline	Chr2:151709764	Pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348786465	rs_1162553327	2 SubmittersRCV001379432 RCV003469639
NM_001164508.2(NEB):c.613-1G>A	SNV Germline	Chr2:151723487	Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348791703	rs_767693366	2 SubmittersRCV001378539 RCV003473910
NM_001164508.2(NEB):c.19156G>T (p.Glu6386Ter)	SNV Germline	Chr2:151561054	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Nemaline myopathy Arthrogryposis multiplex congenita 6 Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Multiple Submitters No Conflicts	CA348794687	rs_2153702280	4 SubmittersRCV001383444 RCV002282537 RCV003469696 RCV005023139
NM_001164508.2(NEB):c.13173T>A (p.Tyr4391Ter)	SNV Germline	Chr2:151603659	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348772208	rs_2153930733	2 SubmittersRCV001381646 RCV003473934
NM_001164508.2(NEB):c.13099G>T (p.Gly4367Ter)	SNV Germline	Chr2:151603733	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348772521	rs_1278785558	2 SubmittersRCV001383589 RCV003473946
NM_001164508.2(NEB):c.12996G>A (p.Trp4332Ter)	SNV Germline	Chr2:151604623	Pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348772927	rs_2153939368	2 SubmittersRCV001386832 RCV003469724
NM_001164508.2(NEB):c.8803C>T (p.Gln2935Ter)	SNV Germline	Chr2:151639943	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Nemaline myopathy	Criteria Provided Multiple Submitters No Conflicts	CA348809233	rs_1351747266	3 SubmittersRCV001387965 RCV004570966 RCV005253836
NM_001164508.2(NEB):c.3601A>T (p.Lys1201Ter)	SNV Germline	Chr2:151677738	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Nemaline myopathy	Criteria Provided Multiple Submitters No Conflicts	CA1910865	rs_748453057	3 SubmittersRCV001389858 RCV003473993 RCV005253841
NM_001164508.2(NEB):c.2212-1G>A	SNV Germline	Chr2:151690826	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348823515	rs_2149103521	2 SubmittersRCV001389495 RCV003463030
NM_182961.4(SYNE1):c.16111C>T (p.Arg5371Ter)	SNV Germline	Chr6:152321363	Pathogenic	Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Arthrogryposis multiplex congenita 3, myogenic type Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Multiple Submitters No Conflicts	CA4055606	rs_772587027	3 SubmittersRCV001385856 RCV003159545 RCV006257336
NM_001164508.2(NEB):c.18786C>G (p.Tyr6262Ter)	SNV Germline	Chr2:151562716	Pathogenic	Arthrogryposis multiplex congenita 6	No Assertion Criteria Provided	CA348797980	rs_374874999	1 SubmittersRCV001449899
NM_001164508.2(NEB):c.19102-1G>T	SNV Germline	Chr2:151561109	Likely pathogenic	Arthrogryposis multiplex congenita 6 Nemaline myopathy	Criteria Provided Single Submitter	CA348795125	rs_2153702473	2 SubmittersRCV001449901 RCV005253847
NM_001164508.2(NEB):c.11719C>T (p.Gln3907Ter)	SNV Germline	Chr2:151612272	Pathogenic/Likely pathogenic	Condition: not provided Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA1908691	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	CA1909582	rs_762881892	3 SubmittersRCV001589777 RCV003474012 RCV002501944
NM_139284.3(LGI4):c.961G>A (p.Glu321Lys)	SNV Germline	Chr19:35126608	Likely pathogenic	Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect	No Assertion Criteria Provided	CA405306412	rs_2065139570	1 SubmittersRCV001844373
NM_001164508.2(NEB):c.16704+1G>A	SNV Germline	Chr2:151579337	Conflicting classifications of pathogenicity	Nemaline myopathy 2 Condition: not provided Nemaline myopathy Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Conflicting Classifications	CA348750316	rs_1227806763	5 SubmittersRCV001730067 RCV002511098 RCV003323920 RCV005014623
NM_001164508.2(NEB):c.24946C>T (p.Arg8316Ter)	SNV Germline	Chr2:151492209	Pathogenic/Likely pathogenic	Condition: not provided Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA1905861	rs_758327681	3 SubmittersRCV001784725 RCV001885165 RCV003470907
NM_001164508.2(NEB):c.612+1G>A	SNV Germline	Chr2:151724259	Pathogenic/Likely pathogenic	Condition: not provided Nemaline myopathy 2 Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348791792	rs_1202331107	3 SubmittersRCV001784728 RCV003514523 RCV005014659
NM_139284.3(LGI4):c.61A>T (p.Arg21Ter)	SNV Germline	Chr19:35134620	Conflicting classifications of pathogenicity	Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA9373472	rs_140614229	5 SubmittersRCV001782382 RCV002541202 RCV002541201
NM_001164508.2(NEB):c.19836+1G>A	SNV Germline	Chr2:151552671	Pathogenic/Likely pathogenic	Condition: not provided Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348787499	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	CA366078625	rs_1562922141	1 SubmittersRCV001813905
NM_001164508.2(NEB):c.7345C>T (p.Gln2449Ter)	SNV Germline	Chr2:151650262	Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Multiple Submitters No Conflicts	CA348788072	rs_2154134234	2 SubmittersRCV001823584 RCV002489890
NM_001164508.2(NEB):c.25181C>A (p.Ser8394Ter)	SNV Germline	Chr2:151490488	Pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348771135	rs_2055484249	2 SubmittersRCV001919308 RCV003471062
NM_001164508.2(NEB):c.19635C>A (p.Tyr6545Ter)	SNV Germline	Chr2:151553494	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348790285	rs_1335300113	2 SubmittersRCV001905783 RCV003475144
NM_001164508.2(NEB):c.1570-1G>C	SNV Germline	Chr2:151695683	Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348825051	rs_1390328608	2 SubmittersRCV001991876 RCV004571934
NM_001164508.2(NEB):c.5309T>A (p.Leu1770Ter)	SNV Germline	Chr2:151664793	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348811441	rs_2154175437	3 SubmittersRCV001946731 RCV004571728
NM_001164508.2(NEB):c.4748C>T (p.Ala1583Val)	SNV Germline	Chr2:151666373	Conflicting classifications of pathogenicity	Nemaline myopathy 2 Condition: not provided Inborn genetic diseases Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Conflicting Classifications	CA1910537	rs_761956085	4 SubmittersRCV001905904 RCV003458102 RCV004953286 RCV005397110
NM_001164508.2(NEB):c.1470+1G>C	SNV Germline	Chr2:151697147	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Multiple Submitters No Conflicts	CA348825281	rs_1220787593	2 SubmittersRCV005025555 RCV001995275
NM_001164508.2(NEB):c.294+1G>A	SNV Germline	Chr2:151727690	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA1911960	rs_759956258	4 SubmittersRCV001992569 RCV005025482
NM_001164508.2(NEB):c.25266C>A (p.Tyr8422Ter)	SNV Germline	Chr2:151490403	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348770960	rs_1433028646	2 SubmittersRCV001949648 RCV003471192
NM_001164508.2(NEB):c.3996C>G (p.Tyr1332Ter)	SNV Germline	Chr2:151672672	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Multiple Submitters No Conflicts	CA348817178	rs_1559093497	2 SubmittersRCV001994822 RCV005016937
NM_001164508.2(NEB):c.21313-2A>T	SNV Germline	Chr2:151533548	Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348772003	rs_1212081578	2 SubmittersRCV002038269 RCV004571962
NM_001164508.2(NEB):c.25330C>T (p.Gln8444Ter)	SNV Germline	Chr2:151490045	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Nemaline myopathy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA1905739	rs_778104284	5 SubmittersRCV001960729 RCV003475221 RCV005253969 RCV005635375
NM_001164508.2(NEB):c.25129C>T (p.Arg8377Ter)	SNV Germline	Chr2:151491704	Pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Condition: not provided Arthrogryposis multiplex congenita 6 Nemaline myopathy 2 Nemaline myopathy	Criteria Provided Multiple Submitters No Conflicts	CA1905813	rs_777232352	6 SubmittersRCV001870159 RCV003475120 RCV002511103 RCV006257342 RCV005253907
NM_001164508.2(NEB):c.23016+1G>A	SNV Germline	Chr2:151514817	Likely pathogenic	Nemaline myopathy 2 Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA57618706	rs_111833078	2 SubmittersRCV001979522 RCV005016970
NM_001164508.2(NEB):c.5763+1G>A	SNV Germline	Chr2:151663547	Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Multiple Submitters No Conflicts	CA348807013	rs_2154172204	2 SubmittersRCV002037618 RCV005023280
NM_001164508.2(NEB):c.4842C>G (p.Tyr1614Ter)	SNV Germline	Chr2:151666279	Pathogenic/Likely pathogenic	Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Multiple Submitters No Conflicts	CA348813722	rs_2154179061	2 SubmittersRCV003475154 RCV001913326
NM_001164508.2(NEB):c.19294C>T (p.Gln6432Ter)	SNV Germline	Chr2:151560612	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348793753	rs_2153700128	2 SubmittersRCV001913107 RCV003471025
NM_001164508.2(NEB):c.22375-1G>A	SNV Germline	Chr2:151524416	Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Nemaline myopathy Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348764911	rs_949331605	4 SubmittersRCV002025272 RCV003471226 RCV005253999 RCV005017008
NM_001164508.2(NEB):c.5343+5G>A	SNV Germline	Chr2:151664754	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Nemaline myopathy Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA2573133252	rs_2154175371	6 SubmittersRCV001956264 RCV002507704 RCV004587274 RCV004571745
NM_001164508.2(NEB):c.21751C>T (p.Gln7251Ter)	SNV Germline	Chr2:151527570	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Multiple Submitters No Conflicts	CA348769093	rs_373946758	2 SubmittersRCV001956117 RCV005925361
NM_001164508.2(NEB):c.295-2A>G	SNV Germline	Chr2:151725562	Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Arthrogryposis multiplex congenita 6 Nemaline myopathy 2 Nemaline myopathy	Criteria Provided Multiple Submitters No Conflicts	CA348794045	rs_1428300892	4 SubmittersRCV001992292 RCV003475280 RCV005017043 RCV005254008
NM_001164508.2(NEB):c.19653G>A (p.Trp6551Ter)	SNV Germline	Chr2:151553476	Pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348790169	rs_2153657682	2 SubmittersRCV001987212 RCV003471084
NM_182961.4(SYNE1):c.24600C>T (p.Phe8200=)	SNV Germline	Chr6:152149519	Conflicting classifications of pathogenicity	Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Arthrogryposis multiplex congenita 3, myogenic type Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Condition: not provided	Criteria Provided Conflicting Classifications	CA4053140	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	CA8391895	rs_539272823	2 SubmittersRCV002269802 RCV003560907
NM_182961.4(SYNE1):c.18955C>T (p.Gln6319Ter)	SNV Germline	Chr6:152262049	Pathogenic	Arthrogryposis multiplex congenita 3, myogenic type	Criteria Provided Single Submitter	CA366089743	rs_368468256	1 SubmittersRCV002285129
NM_182961.4(SYNE1):c.23283G>A (p.Trp7761Ter)	SNV Germline	Chr6:152189270	Pathogenic	Arthrogryposis multiplex congenita 3, myogenic type	Criteria Provided Single Submitter	CA366093994	rs_2551032977	1 SubmittersRCV002285130
NM_001164508.2(NEB):c.6411C>A (p.Tyr2137Ter)	SNV Unknown	Chr2:151656237	Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348798831	rs_2099084606	2 SubmittersRCV002306961 RCV004572232
NM_001164508.2(NEB):c.2095C>T (p.Gln699Ter)	SNV Germline	Chr2:151692070	Likely pathogenic	Nemaline myopathy 2 Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348823809	rs_2099555780	2 SubmittersRCV002307015 RCV005019177
NM_001164508.2(NEB):c.23556G>A (p.Ser7852=)	SNV Germline	Chr2:151506909	Conflicting classifications of pathogenicity	Condition: not provided Arthrogryposis multiplex congenita 6 Nemaline myopathy 2 Nemaline myopathy 2	Criteria Provided Conflicting Classifications	CA1906331	rs_769787871	3 SubmittersRCV002462363 RCV005397432 RCV003103118
NM_001164508.2(NEB):c.24850G>A (p.Glu8284Lys)	SNV Germline	Chr2:151492410	Conflicting classifications of pathogenicity	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Conflicting Classifications	CA1905896	rs_376973987	2 SubmittersRCV003078939 RCV003448477
NM_001164508.2(NEB):c.17833G>A (p.Val5945Ile)	SNV Germline	Chr2:151568082	Conflicting classifications of pathogenicity	Nemaline myopathy 2 Condition: not provided Inborn genetic diseases Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Conflicting Classifications	CA1908097	rs_79562044	4 SubmittersRCV002637537 RCV004725558 RCV004961135 RCV005399139
NM_001164508.2(NEB):c.2079C>A (p.Cys693Ter)	SNV Germline	Chr2:151692086	Likely pathogenic	Nemaline myopathy Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348823842	rs_2552267817	3 SubmittersRCV002510267 RCV002571593 RCV003465777
NM_001164508.2(NEB):c.23127+2T>A	SNV Germline	Chr2:151514316	Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA57618337	rs_112610938	2 SubmittersRCV002569913 RCV003475393
NM_001164508.2(NEB):c.23650-2A>T	SNV Germline	Chr2:151505572	Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348783503	rs_113925788	2 SubmittersRCV002581418 RCV003465787
NM_001164508.2(NEB):c.22272+1G>A	SNV Germline	Chr2:151525162	Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA1906727	rs_765866533	2 SubmittersRCV002594750 RCV003465796
NM_001164508.2(NEB):c.7546C>T (p.Arg2516Ter)	SNV Germline	Chr2:151644566	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348783516	rs_1248414885	2 SubmittersRCV002634728 RCV003465799
NM_001164508.2(NEB):c.12162G>A (p.Trp4054Ter)	SNV Germline	Chr2:151609977	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Congenital myopathy Nemaline myopathy	Criteria Provided Multiple Submitters No Conflicts	CA348777384	rs_2097887468	4 SubmittersRCV002705678 RCV004571212 RCV005626683 RCV005254127
NM_001164508.2(NEB):c.24301-1G>T	SNV Germline	Chr2:151497034	Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Multiple Submitters No Conflicts	CA348778666	rs_2551843345	2 SubmittersRCV002818982 RCV005019407
NM_001164508.2(NEB):c.22375-1G>C	SNV Germline	Chr2:151524416	Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA57624776	rs_949331605	2 SubmittersRCV002861794 RCV003475440
NM_001164508.2(NEB):c.2658T>G (p.Tyr886Ter)	SNV Germline	Chr2:151684955	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Multiple Submitters No Conflicts	CA348822453	rs_2552265386	2 SubmittersRCV002894848 RCV005027998
NM_001164508.2(NEB):c.7982G>A (p.Trp2661Ter)	SNV Germline	Chr2:151643328	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348813915	rs_2552247008	2 SubmittersRCV003017975 RCV005028113
NM_001164508.2(NEB):c.10916G>A (p.Trp3639Ter)	SNV Germline	Chr2:151618435	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348786535	rs_2552232114	2 SubmittersRCV003020002 RCV005019573
NM_001164508.2(NEB):c.17756G>A (p.Trp5919Ter)	SNV Germline	Chr2:151568159	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348804790	rs_2552194237	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	CA405314801	rs_2513330090	1 SubmittersRCV003146992
NM_000113.3(TOR1A):c.844C>T (p.Arg282Ter)	SNV Germline	Chr9:129814127	Likely pathogenic	Arthrogryposis multiplex congenita 5	Criteria Provided Multiple Submitters No Conflicts	CA5278524	rs_753220814	2 SubmittersRCV003155900
NM_020654.5(SENP7):c.1474C>T (p.Gln492Ter)	SNV Germline	Chr3:101364836	Likely pathogenic	arthrogryposis multiplex congenita with neutropenia and early respiratory failure	Criteria Provided Single Submitter	CA353840644	rs_777487611	1 SubmittersRCV003226605
NM_001164508.2(NEB):c.9102+1G>C	SNV Germline	Chr2:151636226	Likely pathogenic	Nemaline myopathy Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA57660925	rs_143644938	2 SubmittersRCV005254754 RCV003228233
NM_001164508.2(NEB):c.10170G>A (p.Trp3390Ter)	SNV Germline	Chr2:151627179	Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348793559	rs_1560619891	2 SubmittersRCV003229530 RCV003475548
NM_182961.4(SYNE1):c.8861C>A (p.Ser2954Ter)	SNV Germline	Chr6:152381154	Likely pathogenic	Arthrogryposis multiplex congenita 3, myogenic type	Criteria Provided Single Submitter	CA366144181	rs_145819043	1 SubmittersRCV003340971
NM_001164508.2(NEB):c.6496-1G>A	SNV Unknown	Chr2:151656024	Pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter	CA348798296	rs_2552252715	1 SubmittersRCV003471402
NM_001164508.2(NEB):c.528G>A (p.Trp176Ter)	SNV Unknown	Chr2:151724344	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter	CA348792277	rs_2552279432	1 SubmittersRCV003471403
NM_001164508.2(NEB):c.23452-1G>A	SNV Unknown	Chr2:151507014	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter	CA348784899	rs_2552010360	1 SubmittersRCV003471404
NM_001164508.2(NEB):c.23836-1G>A	SNV Germline	Chr2:151502886	Likely pathogenic	Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Multiple Submitters No Conflicts	CA348781969	rs_2551936300	2 SubmittersRCV003471406 RCV003629278
NM_001164508.2(NEB):c.25405-1G>A	SNV Unknown	Chr2:151485934	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter	CA348770169	rs_1553508368	1 SubmittersRCV003476527
NM_001164508.2(NEB):c.10898G>A (p.Trp3633Ter)	SNV Unknown	Chr2:151618453	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter	CA348786657	rs_2552232124	1 SubmittersRCV003471408
NM_001164508.2(NEB):c.1057G>T (p.Glu353Ter)	SNV Unknown	Chr2:151706976	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter	CA348826265	rs_2552273413	1 SubmittersRCV003476528
NM_001164508.2(NEB):c.23355C>G (p.Tyr7785Ter)	SNV Unknown	Chr2:151508101	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter	CA348785601	rs_1575514028	1 SubmittersRCV003476529
NM_001164508.2(NEB):c.843T>G (p.Tyr281Ter)	SNV Unknown	Chr2:151710518	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter	CA348787020	rs_2552275070	1 SubmittersRCV003471411
NM_001164508.2(NEB):c.9441G>A (p.Trp3147Ter)	SNV Unknown	Chr2:151631320	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter	CA348801358	rs_2552238380	1 SubmittersRCV003471413
NM_001164508.2(NEB):c.20578-1G>C	SNV Unknown	Chr2:151541552	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter	CA348779120	rs_2552160214	1 SubmittersRCV003476531
NM_001164508.2(NEB):c.21630+2T>C	SNV Unknown	Chr2:151530992	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter	CA348770134	rs_2552139054	1 SubmittersRCV003471414
NM_001164508.2(NEB):c.22009C>T (p.Gln7337Ter)	SNV Unknown	Chr2:151526199	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter	CA348766826	rs_2552117623	1 SubmittersRCV003471415
NM_001164508.2(NEB):c.24579+1G>C	SNV Unknown	Chr2:151494160	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter	CA348776584	rs_2058584112	1 SubmittersRCV003476532
NM_001164508.2(NEB):c.16252C>T (p.Gln5418Ter)	SNV Unknown	Chr2:151581515	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter	CA348754109	rs_2552208262	1 SubmittersRCV003471418
NM_001164508.2(NEB):c.1365+1G>A	SNV Unknown	Chr2:151697349	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter	CA348825540	rs_1379418184	1 SubmittersRCV003471419
NM_001164508.2(NEB):c.11911-2A>G	SNV Unknown	Chr2:151610625	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter	CA348778332	rs_2552227879	1 SubmittersRCV003476535
NM_001164508.2(NEB):c.25404+1G>A	SNV Unknown	Chr2:151489970	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter	CA348770667	rs_2551643451	1 SubmittersRCV003471421
NM_001164508.2(NEB):c.11665G>T (p.Glu3889Ter)	SNV Unknown	Chr2:151612326	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter	CA348780464	rs_1318105962	1 SubmittersRCV003476538
NM_001164508.2(NEB):c.14794C>T (p.Gln4932Ter)	SNV Unknown	Chr2:151592066	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter	CA348762478	rs_2552216787	1 SubmittersRCV003471423
NM_001164508.2(NEB):c.12220C>T (p.Gln4074Ter)	SNV Germline	Chr2:151609919	Pathogenic/Likely pathogenic	Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Multiple Submitters No Conflicts	CA348777111	rs_2552227195	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	CA348804838	rs_2552194255	1 SubmittersRCV003471427
NM_001164508.2(NEB):c.1921A>T (p.Lys641Ter)	SNV Unknown	Chr2:151692338	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter	CA348824212	rs_1445629270	1 SubmittersRCV003471428
NM_001164508.2(NEB):c.11289+1G>A	SNV Unknown	Chr2:151616001	Pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter	CA348783593	rs_1553901249	1 SubmittersRCV003471429
NM_001164508.2(NEB):c.8516G>A (p.Trp2839Ter)	SNV Germline	Chr2:151640524	Likely pathogenic	Arthrogryposis multiplex congenita 6 Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA1909563	rs_772959616	2 SubmittersRCV003471430 RCV005927717
NM_001164508.2(NEB):c.3390T>G (p.Tyr1130Ter)	SNV Germline	Chr2:151678053	Pathogenic/Likely pathogenic	Arthrogryposis multiplex congenita 6 Nemaline myopathy 2 Nemaline myopathy	Criteria Provided Multiple Submitters No Conflicts	CA1910918	rs_767079113	3 SubmittersRCV003471432 RCV003514645 RCV005254794
NM_001164508.2(NEB):c.25151-2A>G	SNV Unknown	Chr2:151490520	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter	CA348771236	rs_2551672017	1 SubmittersRCV003476544
NM_001164508.2(NEB):c.5907T>G (p.Tyr1969Ter)	SNV Unknown	Chr2:151662198	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter	CA348805752	rs_2552255512	1 SubmittersRCV003471435
NM_001164508.2(NEB):c.1258A>T (p.Lys420Ter)	SNV Unknown	Chr2:151697457	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter	CA348825789	rs_200298261	1 SubmittersRCV003476545
NM_001164508.2(NEB):c.16756C>T (p.Gln5586Ter)	SNV Unknown	Chr2:151576303	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter	CA348810884	rs_2552199770	1 SubmittersRCV003476546
NM_001164508.2(NEB):c.8890-2A>G	SNV Unknown	Chr2:151639386	Pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter	CA348807848	rs_2552242957	1 SubmittersRCV003471436
NM_001164508.2(NEB):c.1871T>A (p.Leu624Ter)	SNV Germline	Chr2:151694348	Pathogenic/Likely pathogenic	Arthrogryposis multiplex congenita 6 Arthrogryposis multiplex congenita 6 Nemaline myopathy 2 Nemaline myopathy	Criteria Provided Multiple Submitters No Conflicts	CA348824340	rs_2552268543	3 SubmittersRCV003476547 RCV005021974 RCV005419630
NM_001164508.2(NEB):c.23347-2A>G	SNV Germline	Chr2:151508111	Likely pathogenic	Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Multiple Submitters No Conflicts	CA348785659	rs_2552036488	2 SubmittersRCV003471439 RCV003779061
NM_001164508.2(NEB):c.25404+1G>T	SNV Unknown	Chr2:151489970	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter	CA348770665	rs_2551643451	1 SubmittersRCV003476551
NM_001164508.2(NEB):c.10560+1G>C	SNV Unknown	Chr2:151620918	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter	CA348789070	rs_1553915731	1 SubmittersRCV003476554
NM_001164508.2(NEB):c.22051-2A>C	SNV Unknown	Chr2:151526070	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter	CA348766468	rs_2552116988	1 SubmittersRCV003476556
NM_001164508.2(NEB):c.7093G>T (p.Gly2365Ter)	SNV Germline	Chr2:151650708	Pathogenic/Likely pathogenic	Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Multiple Submitters No Conflicts	CA348789957	rs_2552249907	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	CA348773649	rs_2552224168	1 SubmittersRCV003476561
NM_001164508.2(NEB):c.14741G>A (p.Trp4914Ter)	SNV Unknown	Chr2:151592119	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter	CA348762599	rs_1326281375	1 SubmittersRCV003476562
NM_001164508.2(NEB):c.17362C>T (p.Gln5788Ter)	SNV Unknown	Chr2:151570149	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter	CA348807565	rs_2552195829	1 SubmittersRCV003476564
NM_001164508.2(NEB):c.6634C>T (p.Gln2212Ter)	SNV Unknown	Chr2:151655885	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter	CA348797001	rs_2552252628	1 SubmittersRCV003471450
NM_001164508.2(NEB):c.2178T>G (p.Tyr726Ter)	SNV Unknown	Chr2:151691897	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter	CA348823599	rs_2552267736	1 SubmittersRCV003476565
NM_001164508.2(NEB):c.12808C>T (p.Gln4270Ter)	SNV Unknown	Chr2:151604811	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter	CA348773834	rs_1057524648	1 SubmittersRCV003476566
NM_001164508.2(NEB):c.22695+1G>A	SNV Unknown	Chr2:151518964	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter	CA348760130	rs_2552090974	1 SubmittersRCV003471454
NM_001164508.2(NEB):c.936C>G (p.Tyr312Ter)	SNV Unknown	Chr2:151709755	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter	CA348786393	rs_2552274637	1 SubmittersRCV003476571
NM_001164508.2(NEB):c.10059C>A (p.Tyr3353Ter)	SNV Germline	Chr2:151627607	Pathogenic/Likely pathogenic	Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Multiple Submitters No Conflicts	CA348794730	rs_768102065	2 SubmittersRCV003471457 RCV006473234
NM_001164508.2(NEB):c.23149G>T (p.Glu7717Ter)	SNV Unknown	Chr2:151513672	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter	CA348751853	rs_766321668	1 SubmittersRCV003471459
NM_001164508.2(NEB):c.20551C>T (p.Gln6851Ter)	SNV Unknown	Chr2:151545914	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter	CA348779900	rs_2552171912	1 SubmittersRCV003471462
NM_001164508.2(NEB):c.1036-1G>A	SNV Unknown	Chr2:151706998	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter	CA348826321	rs_2552273429	1 SubmittersRCV003471463
NM_001164508.2(NEB):c.24579+1G>A	SNV Unknown	Chr2:151494160	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter	CA348776581	rs_2058584112	1 SubmittersRCV003471464
NM_001164508.2(NEB):c.10477G>T (p.Glu3493Ter)	SNV Unknown	Chr2:151621002	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter	CA348789415	rs_1200480325	1 SubmittersRCV003476574
NM_001164508.2(NEB):c.17457G>A (p.Trp5819Ter)	SNV Unknown	Chr2:151569346	Pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter	CA348806123	rs_2552195317	1 SubmittersRCV003476575
NM_001164508.2(NEB):c.5451+1G>A	SNV Unknown	Chr2:151664500	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter	CA348810060	rs_2552256921	1 SubmittersRCV003471466
NM_001164508.2(NEB):c.13252C>T (p.Gln4418Ter)	SNV Germline	Chr2:151603580	Pathogenic/Likely pathogenic	Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Multiple Submitters No Conflicts	CA348771876	rs_2552222439	2 SubmittersRCV003471468 RCV004796812
NM_001164508.2(NEB):c.22891C>T (p.Gln7631Ter)	SNV Unknown	Chr2:151516473	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter	CA348755539	rs_2552085287	1 SubmittersRCV003471470
NM_001164508.2(NEB):c.17456G>A (p.Trp5819Ter)	SNV Unknown	Chr2:151569347	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter	CA348806130	rs_2096546315	1 SubmittersRCV003463111
NM_001164508.2(NEB):c.1069G>T (p.Gly357Ter)	SNV Unknown	Chr2:151706964	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter	CA348826235	rs_2552273407	1 SubmittersRCV003471471
NM_001164508.2(NEB):c.403-2A>G	SNV Germline	Chr2:151724963	Likely pathogenic	Arthrogryposis multiplex congenita 6 Nemaline myopathy 2 Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Multiple Submitters No Conflicts	CA348792874	rs_2552279789	3 SubmittersRCV003471474 RCV003629284 RCV005021977
NM_001164508.2(NEB):c.22906-1G>C	SNV Unknown	Chr2:151514929	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter	CA348754956	rs_2552081312	1 SubmittersRCV003471477
NM_001164508.2(NEB):c.14871T>A (p.Tyr4957Ter)	SNV Unknown	Chr2:151591411	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter	CA348762286	rs_1453402449	1 SubmittersRCV003471484
NM_001164508.2(NEB):c.21220G>T (p.Glu7074Ter)	SNV Germline	Chr2:151535783	Pathogenic/Likely pathogenic	Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Multiple Submitters No Conflicts	CA348773155	rs_1266187397	2 SubmittersRCV003463117 RCV003514647
NM_001164508.2(NEB):c.4048C>T (p.Gln1350Ter)	SNV Unknown	Chr2:151672620	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter	CA348817058	rs_1559092256	1 SubmittersRCV003463119
NM_001164508.2(NEB):c.1280T>A (p.Leu427Ter)	SNV Unknown	Chr2:151697435	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter	CA348825734	rs_2552270108	1 SubmittersRCV003463122
NM_001164508.2(NEB):c.7227+1G>A	SNV Germline	Chr2:151650573	Likely pathogenic	Arthrogryposis multiplex congenita 6 Nemaline myopathy	Criteria Provided Multiple Submitters No Conflicts	CA348789036	rs_1459939417	2 SubmittersRCV003463124 RCV005254796
NM_001164508.2(NEB):c.3541A>T (p.Lys1181Ter)	SNV Unknown	Chr2:151677902	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter	CA348818882	rs_749655119	1 SubmittersRCV003463127
NM_001164508.2(NEB):c.4300-1G>C	SNV Germline	Chr2:151671230	Likely pathogenic	Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Multiple Submitters No Conflicts	CA348816146	rs_1331062755	2 SubmittersRCV003463128 RCV003779063
NM_001164508.2(NEB):c.3042+2T>G	SNV Unknown	Chr2:151680728	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter	CA348820974	rs_2552263977	1 SubmittersRCV003463130
NM_001164508.2(NEB):c.3184A>T (p.Lys1062Ter)	SNV Unknown	Chr2:151679792	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter	CA348820242	rs_192117840	1 SubmittersRCV003463133
NM_001164508.2(NEB):c.22711A>T (p.Lys7571Ter)	SNV Germline	Chr2:151518407	Pathogenic/Likely pathogenic	Nemaline myopathy 2 Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA1906552	rs_748990736	2 SubmittersRCV003628845 RCV005030213
NM_182961.4(SYNE1):c.19158A>C (p.Gly6386=)	SNV Germline	Chr6:152255693	Conflicting classifications of pathogenicity	Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Arthrogryposis multiplex congenita 3, myogenic type	Criteria Provided Conflicting Classifications	CA4054746	rs_748717377	2 SubmittersRCV003807076 RCV005040527
NM_001164508.2(NEB):c.4719+2T>A	SNV Germline	Chr2:151667802	Likely pathogenic	Nemaline myopathy 2 Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts	CA348814170	rs_1553501889	2 SubmittersRCV003825593 RCV005014993
NM_182961.4(SYNE1):c.25006C>T (p.Arg8336Ter)	SNV Germline	Chr6:152143736	Pathogenic/Likely pathogenic	Autosomal recessive ataxia, Beauce type Condition: not provided Arthrogryposis multiplex congenita 3, myogenic type	Criteria Provided Multiple Submitters No Conflicts	CA4052977	rs_760678661	3 SubmittersRCV003985000 RCV005631260 RCV005358082
NM_001164508.2(NEB):c.10592T>A (p.Leu3531Ter)	SNV Unknown	Chr2:151619731	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter		rs_2098336133	1 SubmittersRCV004576323
NM_001164508.2(NEB):c.2173G>T (p.Glu725Ter)	SNV Unknown	Chr2:151691902	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter		rs_2552267739	1 SubmittersRCV004576325
NM_001164508.2(NEB):c.20683-2A>C	SNV Germline	Chr2:151540803	Likely pathogenic	Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Multiple Submitters No Conflicts		rs_2552157271	2 SubmittersRCV004576327 RCV006488962
NM_001164508.2(NEB):c.24190C>T (p.Gln8064Ter)	SNV Unknown	Chr2:151498277	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter		rs_2551871389	1 SubmittersRCV004576328
NM_001164508.2(NEB):c.20929A>T (p.Lys6977Ter)	SNV Unknown	Chr2:151538208	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter		rs_2552151159	1 SubmittersRCV004576329
NM_001164508.2(NEB):c.5971-1G>A	SNV Unknown	Chr2:151659170	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter		rs_2099118735	1 SubmittersRCV004576330
NM_001164508.2(NEB):c.16204A>T (p.Lys5402Ter)	SNV Unknown	Chr2:151581563	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter		rs_2552208321	1 SubmittersRCV004576331
NM_001164508.2(NEB):c.402+1G>A	SNV Unknown	Chr2:151725452	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter		rs_2552279972	1 SubmittersRCV004576332
NM_001164508.2(NEB):c.2772C>G (p.Tyr924Ter)	SNV Unknown	Chr2:151684841	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter		rs_1466946196	1 SubmittersRCV004576333
NM_001164508.2(NEB):c.21007A>T (p.Lys7003Ter)	SNV Unknown	Chr2:151537967	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter		rs_2552150723	1 SubmittersRCV004576335
NM_001164508.2(NEB):c.10683C>A (p.Tyr3561Ter)	SNV Unknown	Chr2:151619640	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter		rs_2098334069	1 SubmittersRCV004576341
NM_001164508.2(NEB):c.10452+1G>C	SNV Unknown	Chr2:151625533	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter		rs_111863059	1 SubmittersRCV004576344
NM_001164508.2(NEB):c.11628G>A (p.Trp3876Ter)	SNV Germline	Chr2:151612363	Pathogenic/Likely pathogenic	Nemaline myopathy Arthrogryposis multiplex congenita 6	Criteria Provided Multiple Submitters No Conflicts		rs_201719702	2 SubmittersRCV005254909 RCV004576347
NM_001164508.2(NEB):c.21639C>A (p.Tyr7213Ter)	SNV Unknown	Chr2:151529306	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter		rs_1416012783	1 SubmittersRCV004576351
NM_001164508.2(NEB):c.24748C>T (p.Gln8250Ter)	SNV Unknown	Chr2:151493370	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter		rs_2551726011	1 SubmittersRCV004576352
NM_001164508.2(NEB):c.17013+1G>A	SNV Unknown	Chr2:151575694	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter		rs_1474860245	1 SubmittersRCV004576353
NM_001164508.2(NEB):c.18262-1G>T	SNV Unknown	Chr2:151565606	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter		rs_2096326746	1 SubmittersRCV004576355
NM_001164508.2(NEB):c.24589A>T (p.Lys8197Ter)	SNV Unknown	Chr2:151493858	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter		rs_1464359123	1 SubmittersRCV004576358
NM_001164508.2(NEB):c.22209C>G (p.Tyr7403Ter)	SNV Unknown	Chr2:151525226	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter		rs_2552113620	1 SubmittersRCV004576360
NM_001164508.2(NEB):c.16929G>A (p.Trp5643Ter)	SNV Unknown	Chr2:151575779	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter		rs_2096805941	1 SubmittersRCV004576361
NM_001164508.2(NEB):c.6612C>A (p.Tyr2204Ter)	SNV Unknown	Chr2:151655907	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter		rs_1281603759	1 SubmittersRCV004576362
NM_001164508.2(NEB):c.18588C>G (p.Tyr6196Ter)	SNV Unknown	Chr2:151563711	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter		rs_774109260	1 SubmittersRCV004576366
NM_001164508.2(NEB):c.22909G>T (p.Glu7637Ter)	SNV Germline	Chr2:151514925	Conflicting classifications of pathogenicity	Nemaline myopathy Arthrogryposis multiplex congenita 6	Criteria Provided Conflicting Classifications		rs_1209865784	2 SubmittersRCV005254911 RCV004576367
NM_001164508.2(NEB):c.7236T>A (p.Tyr2412Ter)	SNV Unknown	Chr2:151650371	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter		rs_1301275168	1 SubmittersRCV004576368
NM_001164508.2(NEB):c.23533G>T (p.Glu7845Ter)	SNV Unknown	Chr2:151506932	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter		rs_1216517249	1 SubmittersRCV004576370
NM_001164508.2(NEB):c.5061G>A (p.Trp1687Ter)	SNV Unknown	Chr2:151665510	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter		rs_765737421	1 SubmittersRCV004576371
NM_001164508.2(NEB):c.17749G>T (p.Glu5917Ter)	SNV Unknown	Chr2:151568166	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter		rs_2552194244	1 SubmittersRCV004574325
NM_001164508.2(NEB):c.9974G>A (p.Trp3325Ter)	SNV Germline	Chr2:151627692	Pathogenic/Likely pathogenic	Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Multiple Submitters No Conflicts		rs_2552236697	2 SubmittersRCV004574327 RCV005059554
NM_001164508.2(NEB):c.11939C>A (p.Ser3980Ter)	SNV Unknown	Chr2:151610595	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter		rs_2552227856	1 SubmittersRCV004574331
NM_001164508.2(NEB):c.17737-2A>T	SNV Unknown	Chr2:151568180	Pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter		rs_2552194256	1 SubmittersRCV004574333
NM_020654.5(SENP7):c.3088C>T (p.Arg1030Trp)	SNV Germline	Chr3:101326008	Likely pathogenic	Arthrogryposis Multiplex Congenita and Immunodeficiency	Criteria Provided Single Submitter			1 SubmittersRCV005627215
NM_001164508.2(NEB):c.4366G>T (p.Glu1456Ter)	SNV Germline	Chr2:151671163	Pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter			1 SubmittersRCV004788626
NM_182961.4(SYNE1):c.3925C>T (p.Arg1309Ter)	SNV Germline	Chr6:152442158	Pathogenic	Arthrogryposis multiplex congenita 3, myogenic type Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Single Submitter			1 SubmittersRCV004795561
NM_182961.4(SYNE1):c.7642C>T (p.Gln2548Ter)	SNV Germline	Chr6:152395586	Likely pathogenic	Arthrogryposis multiplex congenita 3, myogenic type Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Criteria Provided Single Submitter			1 SubmittersRCV004795562
NM_182961.4(SYNE1):c.15438+2T>C	SNV Germline	Chr6:152325956	Likely pathogenic	Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Arthrogryposis multiplex congenita 3, myogenic type	Criteria Provided Single Submitter			1 SubmittersRCV004795906
NM_000113.3(TOR1A):c.486T>A (p.Cys162Ter)	SNV Germline	Chr9:129818879	Likely pathogenic	Arthrogryposis multiplex congenita 5	Criteria Provided Single Submitter			1 SubmittersRCV004821435
NM_001164508.2(NEB):c.24579G>T (p.Ser8193=)	SNV Germline	Chr2:151494161	Likely pathogenic	Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Single Submitter			1 SubmittersRCV005028821
NM_001164508.2(NEB):c.24358G>T (p.Glu8120Ter)	SNV Germline	Chr2:151496976	Likely pathogenic	Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Single Submitter			1 SubmittersRCV005028824
NM_001164508.2(NEB):c.23128-1G>A	SNV Germline	Chr2:151513694	Likely pathogenic	Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Single Submitter			1 SubmittersRCV005028827
NM_001164508.2(NEB):c.22869C>A (p.Tyr7623Ter)	SNV Germline	Chr2:151516495	Pathogenic	Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Single Submitter			1 SubmittersRCV005016091
NM_001164508.2(NEB):c.22821T>G (p.Tyr7607Ter)	SNV Germline	Chr2:151516543	Likely pathogenic	Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Single Submitter			1 SubmittersRCV005028828
NM_001164508.2(NEB):c.22162-1G>C	SNV Germline	Chr2:151525274	Likely pathogenic	Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Single Submitter			1 SubmittersRCV005028830
NM_001164508.2(NEB):c.21631-2A>G	SNV Germline	Chr2:151529316	Likely pathogenic	Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Single Submitter			1 SubmittersRCV005028831
NM_001164508.2(NEB):c.21313-2A>G	SNV Germline	Chr2:151533548	Likely pathogenic	Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Single Submitter			1 SubmittersRCV005016094
NM_001164508.2(NEB):c.20674C>T (p.Gln6892Ter)	SNV Germline	Chr2:151541455	Likely pathogenic	Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Single Submitter			1 SubmittersRCV005016095
NM_001164508.2(NEB):c.20050-2A>T	SNV Germline	Chr2:151548417	Likely pathogenic	Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Single Submitter			1 SubmittersRCV005016097
NM_001164508.2(NEB):c.18892-1G>T	SNV Germline	Chr2:151562215	Likely pathogenic	Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Single Submitter			1 SubmittersRCV005028834
NM_001164508.2(NEB):c.18579+1G>T	SNV Germline	Chr2:151563822	Likely pathogenic	Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Single Submitter			1 SubmittersRCV005016099
NM_001164508.2(NEB):c.18157-2A>C	SNV Germline	Chr2:151565822	Likely pathogenic	Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Single Submitter			1 SubmittersRCV005016101
NM_001164508.2(NEB):c.17160C>A (p.Tyr5720Ter)	SNV Germline	Chr2:151570351	Likely pathogenic	Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Single Submitter			1 SubmittersRCV005016104
NM_001164508.2(NEB):c.16705-1G>C	SNV Germline	Chr2:151576355	Likely pathogenic	Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Single Submitter			1 SubmittersRCV005016105
NM_001164508.2(NEB):c.11601+2T>C	SNV Germline	Chr2:151614274	Likely pathogenic	Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Single Submitter			1 SubmittersRCV005016107
NM_001164508.2(NEB):c.7170T>A (p.Cys2390Ter)	SNV Germline	Chr2:151650631	Likely pathogenic	Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Single Submitter			1 SubmittersRCV005016109
NM_001164508.2(NEB):c.6916-2A>C	SNV Germline	Chr2:151650887	Likely pathogenic	Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Single Submitter			1 SubmittersRCV005016110
NM_001164508.2(NEB):c.6616C>T (p.Gln2206Ter)	SNV Germline	Chr2:151655903	Likely pathogenic	Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Single Submitter			1 SubmittersRCV005028839
NM_001164508.2(NEB):c.6568G>T (p.Glu2190Ter)	SNV Germline	Chr2:151655951	Likely pathogenic	Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Single Submitter			1 SubmittersRCV005016112
NM_001164508.2(NEB):c.6487C>T (p.Gln2163Ter)	SNV Germline	Chr2:151656161	Likely pathogenic	Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Single Submitter			1 SubmittersRCV005016113
NM_001164508.2(NEB):c.5764-1G>A	SNV Germline	Chr2:151662342	Likely pathogenic	Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Single Submitter			1 SubmittersRCV005028842
NM_001164508.2(NEB):c.5200C>T (p.Gln1734Ter)	SNV Germline	Chr2:151665371	Likely pathogenic	Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Single Submitter			1 SubmittersRCV005016117
NM_001164508.2(NEB):c.3879+1G>C	SNV Germline	Chr2:151675286	Likely pathogenic	Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Single Submitter			1 SubmittersRCV005016120
NM_001164508.2(NEB):c.2637+2T>G	SNV Germline	Chr2:151687417	Likely pathogenic	Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Single Submitter			1 SubmittersRCV005028845
NM_001164508.2(NEB):c.2056G>T (p.Glu686Ter)	SNV Germline	Chr2:151692109	Likely pathogenic	Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Single Submitter			1 SubmittersRCV005016123
NM_001164508.2(NEB):c.927+1G>C	SNV Germline	Chr2:151710433	Likely pathogenic	Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Single Submitter			1 SubmittersRCV005028846
NM_001164508.2(NEB):c.835G>T (p.Glu279Ter)	SNV Germline	Chr2:151710526	Likely pathogenic	Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Single Submitter			1 SubmittersRCV005028847
NM_001164508.2(NEB):c.11290-1G>A	SNV Germline	Chr2:151614588	Likely pathogenic	Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter			1 SubmittersRCV005207591
NM_001164508.2(NEB):c.24673-2A>G	SNV Germline	Chr2:151493447	Likely pathogenic	Nemaline myopathy 2 Arthrogryposis multiplex congenita 6	Criteria Provided Single Submitter			1 SubmittersRCV005365736
NM_182961.4(SYNE1):c.2806C>T (p.Arg936Ter)	SNV Germline	Chr6:152455512	Likely pathogenic	Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Arthrogryposis multiplex congenita 3, myogenic type	Criteria Provided Single Submitter			1 SubmittersRCV005356852
NM_182961.4(SYNE1):c.24719G>A (p.Trp8240Ter)	SNV Germline	Chr6:152148302	Likely pathogenic	Arthrogryposis multiplex congenita 3, myogenic type	Criteria Provided Single Submitter			1 SubmittersRCV005410354
NM_017988.6(SCYL2):c.1215T>A (p.Tyr405Ter)	SNV Germline	Chr12:100315677	Likely pathogenic	Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum	Criteria Provided Single Submitter			1 SubmittersRCV005631462
NM_001164508.2(NEB):c.10040T>A (p.Leu3347Ter)	SNV Germline	Chr2:151627626	Likely pathogenic	Arthrogryposis multiplex congenita 6 Nemaline myopathy 2	Criteria Provided Single Submitter			1 SubmittersRCV006249434
NM_182961.4(SYNE1):c.18403C>T (p.Gln6135Ter)	SNV Germline	Chr6:152278259	Likely pathogenic	Emery-Dreifuss muscular dystrophy 4, autosomal dominant Arthrogryposis multiplex congenita 3, myogenic type Autosomal recessive ataxia, Beauce type	Criteria Provided Single Submitter			1 SubmittersRCV006606034

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

SNV
Germline

Chr18:44951952

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA114715

rs_267607038

12 SubmittersRCV000001086 RCV000255245 RCV001007919 RCV000855501 RCV004532268

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

SNV
Germline

Chr6:152321898

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA252215

rs_606231134

8 SubmittersRCV000002416 RCV000423940 RCV000763141 RCV003330382 RCV004734495 RCV005031382

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

SNV
Germline

Chr6:152381320

Pathogenic

Autosomal recessive ataxia, Beauce type
Condition: not provided
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

Criteria Provided
Multiple Submitters
No Conflicts

CA252216

rs_119103243

6 SubmittersRCV000002417 RCV001288046 RCV005222660 RCV005041971

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

SNV
Germline

Chr6:152140027

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA115488

rs_119103248

13 SubmittersRCV000002424 RCV000535163 RCV000713651 RCV001002110 RCV000987800 RCV001252121 RCV005394106

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

SNV
Germline

Chr6:152151692

Pathogenic

Arthrogryposis multiplex congenita 3, myogenic type

No Assertion Criteria Provided

CA366086814

rs_1586285494

1 SubmittersRCV000002425

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

SNV
Germline

Chr2:151706880

Pathogenic

Nemaline myopathy 2
Condition: not provided
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
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA153986

rs_587780399

5 SubmittersRCV001260937 RCV004567031 RCV006250251

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
Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome
Gordon syndrome
Condition: not provided
Arthrogryposis, distal, with impaired proprioception and touch

Criteria Provided
Multiple Submitters
No Conflicts

CA090890

rs_587777450

15 SubmittersRCV000125478 RCV000224805 RCV000623552 RCV000855472 RCV003224865 RCV001091982 RCV003147342

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

SNV
Germline

Chr19:38516111

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA024994

rs_587784379

7 SubmittersRCV000147451 RCV000855485 RCV001036190 RCV001004921 RCV003998165

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

SNV
Germline

Chr19:38477821

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA024441

rs_200546266

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

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

SNV
Germline

Chr2:151537898

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA199704

rs_769345284

7 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
Fetal akinesia deformation sequence 1
Arthrogryposis multiplex congenita
Cardiac arrhythmia
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA018989

rs_786205271

7 SubmittersRCV000171697 RCV000855502 RCV001842522 RCV005480327 RCV006263713

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

SNV
Germline

Chr6:142309560

Pathogenic

Arthrogryposis multiplex congenita
Lethal congenital contracture syndrome 9

Criteria Provided
Single Submitter

CA200210

rs_749355583

3 SubmittersRCV000172977 RCV000186598

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

SNV
Germline

Chr6:142408187

Pathogenic/Likely pathogenic

Arthrogryposis multiplex congenita
Lethal congenital contracture syndrome 9

Criteria Provided
Multiple Submitters
No Conflicts

CA200214

rs_793888525

3 SubmittersRCV000172979 RCV000186600

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

SNV
Germline

Chr6:152330422

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA247458

rs_41301343

12 SubmittersRCV000180075 RCV000316351 RCV000533703 RCV000710240 RCV000714610 RCV004537501 RCV005031716

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

SNV
Germline

Chr2:151724333

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA247643

rs_200719359

9 SubmittersRCV000245711 RCV000514389 RCV001085642 RCV001578687

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

SNV
Germline

Chr2:151562640

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA248313

rs_201886728

8 SubmittersRCV000540531 RCV000724505 RCV002492794 RCV002516829

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

SNV
Germline

Chr2:151650316

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16616822

rs_767302772

5 SubmittersRCV003475836 RCV003514331 RCV004689691 RCV005025395 RCV005252833

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

SNV
Germline

Chr2:151551738

Pathogenic

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

Reviewed By Expert Panel

CA1907493

rs_201553266

18 SubmittersRCV000224886 RCV000541914 RCV000622763 RCV000780536 RCV001836641 RCV004547569 RCV004796118

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

SNV
Germline

Chr2:151610515

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA1908612

rs_762278237

8 SubmittersRCV000254952 RCV000593350 RCV005016658 RCV005238809

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

SNV
Germline

Chr1:197125045

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10602804

rs_886041851

5 SubmittersRCV000277796 RCV001214721 RCV004527372 RCV004737397

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

10 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
Inborn genetic diseases
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Conflicting Classifications

CA1907204

rs_202209668

9 SubmittersRCV000292919 RCV000535305 RCV002518819 RCV002502095

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

SNV
Germline

Chr2:151627008

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1909062

rs_370053963

12 SubmittersRCV000314743 RCV000724952 RCV001081955 RCV002519098 RCV004547657 RCV005396864

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

Criteria Provided
Conflicting Classifications

CA4056751

rs_144797744

8 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
Intellectual disability
Arthrogryposis multiplex congenita 3, myogenic type
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Inborn genetic diseases
SYNE1-related disorder

Criteria Provided
Conflicting Classifications

CA4055383

rs_145899734

15 SubmittersRCV000266512 RCV000321614 RCV000710244 RCV001252119 RCV001331537 RCV001362101 RCV002518932 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

5 SubmittersRCV000352027 RCV000787308

NM_182961.4(SYNE1):c.245G>T (p.Arg82Leu)

SNV
Germline

Chr6:152520523

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4059818

rs_143900928

8 SubmittersRCV000263124 RCV000318396 RCV000725713 RCV000647662 RCV005863088 RCV002521940

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.22429G>A (p.Gly7477Ser)

SNV
Germline

Chr2:151524361

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10606067

rs_764674361

5 SubmittersRCV000316633 RCV000660520 RCV005396897

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

SNV
Germline

Chr2:151679765

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1910972

rs_35194393

10 SubmittersRCV001130401 RCV001578688 RCV002522010 RCV000326103

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.17897C>T (p.Pro5966Leu)

SNV
Germline

Chr2:151567427

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1908071

rs_368912483

8 SubmittersRCV000281201 RCV000622600 RCV000595871 RCV005398453

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

SNV
Germline

Chr2:151674478

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1910775

rs_115986826

9 SubmittersRCV000531206 RCV001705498 RCV003483605 RCV005018693

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

SNV
Germline

Chr2:151692360

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1911395

rs_77826191

7 SubmittersRCV000494281 RCV001086153 RCV004549753 RCV005398456

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

SNV
Germline

Chr2:151619740

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1908984

rs_199584268

7 SubmittersRCV000822266 RCV001753794 RCV002480174

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

SNV
Germline

Chr2:151514316

Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA10612274

rs_112610938

3 SubmittersRCV000701787 RCV003470318

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

SNV
Germline

Chr2:151490504

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1905791

rs_373551215

7 SubmittersRCV000521206 RCV000536760 RCV005398451

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

SNV
Germline

Chr2:151547734

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1907400

rs_111517514

10 SubmittersRCV000691644 RCV001577784 RCV005398452

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

SNV
Germline

Chr2:151569341

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1908205

rs_773239926

6 SubmittersRCV000795724 RCV002487462 RCV003129840

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

SNV
Germline

Chr2:151629627

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1909215

rs_139548702

7 SubmittersRCV000798629 RCV003129843 RCV003243088 RCV005398455

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

SNV
Germline

Chr2:151667857

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1910565

rs_756692621

6 SubmittersRCV000688136 RCV002487463 RCV003133235 RCV005438889

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

SNV
Germline

Chr6:152331268

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4055423

rs_369292604

8 SubmittersRCV000785033 RCV000713609 RCV002520410 RCV000785031 RCV000785032 RCV001850885

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

SNV
Germline

Chr2:151643272

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16040849

rs_1057516676

4 SubmittersRCV000409018 RCV003470330 RCV006605265

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

SNV
Germline

Chr2:151650380

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16040851

rs_1057516996

6 SubmittersRCV000412054 RCV001420895 RCV003463800 RCV005027464

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

SNV
Germline

Chr2:151674476

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA1910773

rs_780022652

7 SubmittersRCV000410029 RCV000781655 RCV001723970 RCV003470347

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

SNV
Germline

Chr2:151688290

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16040855

rs_1057517399

3 SubmittersRCV000411510 RCV005027467 RCV004567890

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

SNV
Germline

Chr2:151724952

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16040858

rs_1057517360

7 SubmittersRCV000411613 RCV001796023 RCV002488842 RCV004567889

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

SNV
Germline

Chr2:151666403

Likely pathogenic

Condition: not provided
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA16042348

rs_1057518353

2 SubmittersRCV000413634 RCV004567900

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

SNV
Germline

Chr2:151636283

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16042419

rs_1057517977

7 SubmittersRCV000413859 RCV000667230 RCV003470361 RCV004586700 RCV005027474

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

SNV
Germline

Chr2:151501423

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1906173

rs_549794342

22 SubmittersRCV000414803 RCV000416049 RCV000576327 RCV002480270 RCV003155176 RCV003476003 RCV004551415

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

SNV
Germline

Chr2:151505476

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA1906270

rs_545937015

12 SubmittersRCV000416472 RCV001195395 RCV001782898 RCV005018715 RCV003476005 RCV005900713 RCV005252884

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

SNV
Germline

Chr2:151538181

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1907121

rs_150874422

8 SubmittersRCV000425742 RCV000550442 RCV002506082 RCV004551506 RCV004955486

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

SNV
Germline

Chr2:151630821

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA1909252

rs_375145370

9 SubmittersRCV000444827 RCV000528659 RCV002480289 RCV004782377

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

SNV
Germline

Chr2:151581494

Likely pathogenic

Condition: not provided
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA16617243

rs_1064796311

2 SubmittersRCV000486583 RCV003470584

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

SNV
Germline

Chr19:35126853

Pathogenic

Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect

No Assertion Criteria Provided

CA9373252

rs_779232987

1 SubmittersRCV000487489

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

SNV
Germline

Chr19:35126706

Pathogenic

Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect

No Assertion Criteria Provided

CA16621544

rs_775997446

1 SubmittersRCV000487492

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

SNV
Germline

Chr19:35126848

Pathogenic

Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect

No Assertion Criteria Provided

CA16621545

rs_1064797093

1 SubmittersRCV000487486

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

SNV
Germline

Chr19:35125506

Pathogenic

Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect

No Assertion Criteria Provided

CA16621546

rs_1064797094

1 SubmittersRCV000487490

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

SNV
Germline

Chr19:35126265

Pathogenic

Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect

No Assertion Criteria Provided

CA16621547

rs_1064797095

1 SubmittersRCV000487493

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

SNV
Germline

Chr19:35126873

Pathogenic

Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect

No Assertion Criteria Provided

CA9373257

rs_755500591

1 SubmittersRCV000487487

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

SNV
Germline

Chr3:81537021

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2499591

rs_552094593

7 SubmittersRCV000487962 RCV000855462 RCV001329659 RCV001829394 RCV002528222 RCV003330722

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

SNV
Germline

Chr2:151533439

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA1906977

rs_148950085

11 SubmittersRCV000493255 RCV001086213 RCV003470617 RCV004737563 RCV004796202 RCV005407155

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

SNV
Germline

Chr2:151493859

Pathogenic

Condition: not provided
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA1905979

rs_754272530

6 SubmittersRCV000498615 RCV000670685 RCV003470620

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

SNV
Germline

Chr19:38525496

Pathogenic

Arthrogryposis multiplex congenita

Criteria Provided
Single Submitter

CA405644022

rs_758247804

1 SubmittersRCV000499002

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

SNV
Germline

Chr2:151490039

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA1905735

rs_200731870

8 SubmittersRCV000520480 RCV000665375 RCV001174690 RCV003476221

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

SNV
Germline

Chr2:151490486

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA1905784

rs_747179265

7 SubmittersRCV000522200 RCV000763062 RCV004553149 RCV004568671 RCV005901189

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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA1908708

rs_776569219

6 SubmittersRCV000521697 RCV000529040 RCV003993996 RCV003476222

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

SNV
Germline

Chr2:151636282

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1909431

rs_373587647

6 SubmittersRCV000519197 RCV000556075 RCV005398756

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

SNV
Germline

Chr2:151679720

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA1910960

rs_375628303

11 SubmittersRCV000519006 RCV000536181 RCV001192838 RCV003470651

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

SNV
Germline

Chr15:51404526

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA7560758

rs_750803388

3 SubmittersRCV000524042 RCV000855464 RCV004594071

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

SNV
Germline

Chr2:151496940

Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA1906073

rs_775631800

4 SubmittersRCV000540499 RCV003470750

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

SNV
Germline

Chr2:151662166

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1910237

rs_375412223

8 SubmittersRCV000529425 RCV003129901 RCV002506339

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

SNV
Germline

Chr2:151680765

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1911044

rs_149471462

4 SubmittersRCV000534614 RCV003133325 RCV005357587

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

SNV
Germline

Chr2:151682685

Pathogenic/Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6
Nemaline myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA348821398

rs_1553548666

4 SubmittersRCV000530974 RCV001449887 RCV004017670

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

SNV
Germline

Chr2:151547744

Conflicting classifications of pathogenicity

not specified
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6
Nemaline myopathy

Criteria Provided
Conflicting Classifications

CA658683265

rs_1553715636

5 SubmittersRCV000579107 RCV001834828 RCV002250662 RCV005252970

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

SNV
Germline

Chr2:151617381

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA57640117

rs_928945364

8 SubmittersRCV000590386 RCV000674606 RCV003129932 RCV003157724

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

SNV
Germline

Chr2:151496308

Pathogenic/Likely pathogenic

Nemaline myopathy
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

10 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

7 SubmittersRCV000588345 RCV000666431 RCV001591353 RCV003465324

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

SNV
Germline

Chr11:47448071

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5976768

rs_375218091

6 SubmittersRCV000591406 RCV000855473 RCV001867917 RCV003465332

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

SNV
Germline

Chr9:91733251

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5120886

rs_145631389

4 SubmittersRCV000597894 RCV000855499

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

SNV
Germline

Chr2:151619450

Pathogenic

Nemaline myopathy
Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

CA348787368

rs_1336053002

2 SubmittersRCV005252996 RCV000611131

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

SNV
Germline

Chr2:151499371

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1906159

rs_200269437

6 SubmittersRCV000690819 RCV003133394 RCV004737885 RCV005392165

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

SNV
Germline

Chr2:151494161

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA1905995

rs_202048855

11 SubmittersRCV000623853 RCV000820159 RCV002506517 RCV003153763 RCV003465358 RCV004586841

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

6 SubmittersRCV000623280 RCV000787365 RCV001809702 RCV001756022

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

SNV
Germline

Chr5:172914756

Pathogenic

Arthrogryposis multiplex congenita 2, neurogenic type

No Assertion Criteria Provided

CA362152610

rs_1554112524

1 SubmittersRCV000626312

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

SNV
Germline

Chr2:151650298

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1909881

rs_375164626

8 SubmittersRCV000641337 RCV001662690 RCV002507092

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

SNV
Germline

Chr2:151696713

Likely pathogenic

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

Reviewed By Expert Panel

CA348825220

rs_1255744452

8 SubmittersRCV000641321 RCV003148813 RCV003472031 RCV005253019

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

SNV
Germline

Chr6:152141226

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4052897

rs_375476506

6 SubmittersRCV000647632 RCV000713648 RCV004544876 RCV005046832

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

SNV
Germline

Chr19:35126416

Pathogenic

Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect

No Assertion Criteria Provided

CA405304273

rs_1366269616

1 SubmittersRCV000664223

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

SNV
Germline

Chr19:35134075

Likely pathogenic

Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect

No Assertion Criteria Provided

CA405315145

rs_1555734932

1 SubmittersRCV000664224

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

SNV
Germline

Chr2:151490371

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA348770893

rs_113525641

5 SubmittersRCV000667580 RCV001584536 RCV002507159 RCV004568511

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

SNV
Germline

Chr2:151561203

Pathogenic/Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6
Nemaline myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA1907770

rs_374929094

7 SubmittersRCV000673418 RCV003465527 RCV004586872

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

SNV
Germline

Chr2:151562637

Pathogenic/Likely pathogenic

Nemaline myopathy 2
NEB-related disorder
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA1907832

rs_539819851

6 SubmittersRCV000668686 RCV003233799 RCV003472105

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

SNV
Germline

Chr2:151492097

Conflicting classifications of pathogenicity

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6
Nemaline myopathy

Criteria Provided
Conflicting Classifications

CA348773126

rs_1191429915

4 SubmittersRCV000667178 RCV003465466 RCV005253037

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

SNV
Germline

Chr2:151497625

Pathogenic/Likely pathogenic

Nemaline myopathy 2
Condition: not provided
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA348778705

rs_1366853918

4 SubmittersRCV000666960 RCV001784242 RCV004568503

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

SNV
Germline

Chr2:151497706

Pathogenic/Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA348779052

rs_1218073575

4 SubmittersRCV000668980 RCV004568519

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

SNV
Germline

Chr2:151618274

Conflicting classifications of pathogenicity

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6
Nemaline myopathy

Criteria Provided
Conflicting Classifications

CA348785559

rs_1460365350

3 SubmittersRCV000667252 RCV003465471 RCV005253041

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

SNV
Germline

Chr2:151497714

Pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6
Nemaline myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA57668896

rs_756726488

4 SubmittersRCV000667053 RCV004568506 RCV005253033

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

SNV
Germline

Chr2:151633653

Pathogenic/Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA348802530

rs_1255445731

3 SubmittersRCV000671664 RCV003472140

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

SNV
Germline

Chr2:151508004

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA57676889

rs_1011425121

4 SubmittersRCV000674962 RCV003472177 RCV005027830

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

SNV
Germline

Chr2:151508004

Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA348784998

rs_1011425121

3 SubmittersRCV000673508 RCV003472157

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

SNV
Germline

Chr2:151633722

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA348802926

rs_193042896

3 SubmittersRCV000667092 RCV005019114 RCV005253034

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

SNV
Germline

Chr2:151499391

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA348779696

rs_1553561697

4 SubmittersRCV000668888 RCV003465486 RCV005019130

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

SNV
Germline

Chr2:151513578

Likely pathogenic

Nemaline myopathy 2
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

CA348750841

rs_1553615846

2 SubmittersRCV000665797 RCV005019106

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

SNV
Germline

Chr2:151519759

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA1906623

rs_760935667

10 SubmittersRCV000672682 RCV000781656 RCV001784275 RCV005027816 RCV003472148

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

SNV
Germline

Chr2:151518317

Pathogenic/Likely pathogenic

Nemaline myopathy 2
Condition: not provided
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA348759026

rs_1302373559

4 SubmittersRCV000669212 RCV001784256 RCV003472112

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

SNV
Germline

Chr2:151527587

Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA348769191

rs_1389892619

3 SubmittersRCV000664684 RCV003472067

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

SNV
Germline

Chr2:151519070

Pathogenic/Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA1906588

rs_757157808

3 SubmittersRCV000665581 RCV003472071

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

SNV
Germline

Chr2:151562125

Pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

CA348796638

rs_761964375

3 SubmittersRCV000673447 RCV001449900

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

SNV
Germline

Chr2:151562610

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA348797233

rs_1443738549

9 SubmittersRCV000667258 RCV000731470 RCV002493092 RCV003465472

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

SNV
Germline

Chr2:151629647

Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA348798509

rs_1553934586

3 SubmittersRCV000667250 RCV004568508

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

SNV
Unknown

Chr2:151629648

Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

CA348798520

rs_1553934597

2 SubmittersRCV000666954 RCV004568502

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

SNV
Germline

Chr2:151633653

Pathogenic/Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA348802536

rs_1255445731

3 SubmittersRCV000669140 RCV003459606

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

SNV
Germline

Chr2:151691859

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA658823142

rs_797045736

7 SubmittersRCV000671466 RCV001784269 RCV003472138 RCV005253054 RCV005418288

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

SNV
Germline

Chr2:151639856

Pathogenic/Likely pathogenic

Nemaline myopathy 2
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA348809045

rs_1553963960

7 SubmittersRCV000671973 RCV005019144

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

SNV
Germline

Chr2:151548334

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1907431

rs_533233215

8 SubmittersRCV000670617 RCV002509500 RCV003129984 RCV003465501

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

SNV
Germline

Chr2:151695576

Pathogenic/Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA348824801

rs_1553603437

4 SubmittersRCV000664673 RCV003472066

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

SNV
Germline

Chr2:151563623

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA348798689

rs_1475648900

4 SubmittersRCV000673657 RCV002499187 RCV003226364

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

SNV
Germline

Chr2:151541470

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA1907202

rs_749452641

6 SubmittersRCV000674087 RCV001194218 RCV003243248 RCV003325512 RCV003472164

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

SNV
Germline

Chr2:151723487

Likely pathogenic

Nemaline myopathy 2
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA1911833

rs_767693366

3 SubmittersRCV000666879 RCV005019112

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

SNV
Unknown

Chr2:151617362

Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

CA348784677

rs_1553904694

2 SubmittersRCV000673522 RCV004568555

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

SNV
Germline

Chr2:151562694

Pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6
Nemaline myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA57656219

rs_754369875

5 SubmittersRCV000668497 RCV003472100 RCV005253048

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

SNV
Germline

Chr2:151671022

Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA1910615

rs_112517981

3 SubmittersRCV000669059 RCV003472110

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

SNV
Germline

Chr2:151610761

Likely pathogenic

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

Reviewed By Expert Panel

CA57635829

rs_774495973

7 SubmittersRCV000667256 RCV004568509 RCV003133493 RCV005253043

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

SNV
Germline

Chr2:151729657

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA348797091

rs_1428597732

4 SubmittersRCV000667927 RCV003459591 RCV005019123

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

SNV
Germline

Chr2:151675286

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA1910808

rs_746999970

6 SubmittersRCV000670383 RCV002265844 RCV003442015 RCV003465499

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

SNV
Germline

Chr2:151682661

Pathogenic

Nemaline myopathy 2
Nemaline myopathy
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA1911078

rs_113091511

4 SubmittersRCV000667067 RCV001255511 RCV003465461

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

SNV
Germline

Chr2:151687734

Likely pathogenic

Nemaline myopathy 2
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA348823037

rs_1553565278

3 SubmittersRCV000672789 RCV005019149

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

SNV
Germline

Chr2:151695684

Pathogenic/Likely pathogenic

Nemaline myopathy 2
Condition: not provided
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA348825053

rs_1553603958

4 SubmittersRCV000674550 RCV000729399 RCV004568566

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

SNV
Germline

Chr2:151696636

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA348825059

rs_1553605553

6 SubmittersRCV000667222 RCV001784247 RCV003465470 RCV005253039

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

SNV
Germline

Chr2:151658091

Likely pathogenic

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

Reviewed By Expert Panel

CA348802582

rs_1553469502

5 SubmittersRCV000668960 RCV005019131 RCV003465487 RCV004732994

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

SNV
Germline

Chr2:151697348

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA57677350

rs_770797137

5 SubmittersRCV000667221 RCV004568507 RCV005027788

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

SNV
Unknown

Chr2:151677875

Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

CA348818815

rs_587780399

2 SubmittersRCV000675022 RCV003472181

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

SNV
Germline

Chr2:151697459

Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA348825795

rs_1553608621

3 SubmittersRCV000667220 RCV003465469

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

SNV
Germline

Chr2:151663543

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA1910287

rs_776167256

6 SubmittersRCV000667575 RCV004568510 RCV004698847 RCV005253046

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

SNV
Germline

Chr2:151671192

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA348815947

rs_541803470

4 SubmittersRCV000666609 RCV001553645 RCV005027784

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

SNV
Germline

Chr2:151675292

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA348817869

rs_1553521537

5 SubmittersRCV000667109 RCV003465463 RCV005019115 RCV005253035

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

SNV
Germline

Chr2:151697147

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA348825282

rs_1220787593

4 SubmittersRCV000672930 RCV001784279 RCV005019150

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

SNV
Germline

Chr2:151679720

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA1910961

rs_375628303

7 SubmittersRCV000668568 RCV003459598 RCV005019127 RCV005253050

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

SNV
Germline

Chr2:151729614

Pathogenic

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

Reviewed By Expert Panel

CA1912012

rs_778593702

9 SubmittersRCV000667209 RCV000781651 RCV001784246 RCV003465467 RCV004547838 RCV005019117

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

SNV
Germline

Chr2:151697650

Conflicting classifications of pathogenicity

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6
Nemaline myopathy

Criteria Provided
Conflicting Classifications

CA348826047

rs_1553609515

4 SubmittersRCV000667210 RCV003465468 RCV005253038

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

SNV
Germline

Chr9:129814109

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA5278519

rs_760768475

11 SubmittersRCV000677723 RCV001250912 RCV001592856 RCV005091969

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

CA348780470

rs_1202510810

4 SubmittersRCV000705808 RCV002485766 RCV003130021

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

SNV
Germline

Chr2:151490497

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1905787

rs_749034995

6 SubmittersRCV000686525 RCV002493148 RCV003133508

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

SNV
Germline

Chr2:151663816

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1910351

rs_751494785

7 SubmittersRCV000696117 RCV002477581 RCV003133544 RCV004026366

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

SNV
Germline

Chr2:151570269

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1908255

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
Nemaline myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA1910381

rs_201636991

3 SubmittersRCV000703915 RCV003465629 RCV005253083

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

SNV
Germline

Chr2:151525265

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA1906743

rs_748922882

6 SubmittersRCV000701148 RCV000781648 RCV002499258 RCV003465616 RCV004719960

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

SNV
Germline

Chr2:151526238

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1906820

rs_756646859

6 SubmittersRCV000704917 RCV002286785 RCV002477626 RCV005372416

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

SNV
Germline

Chr19:35134679

Pathogenic

Arthrogryposis multiplex congenita 2, neurogenic type

Criteria Provided
Single Submitter

CA405315627

rs_1207534366

1 SubmittersRCV000766216

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

SNV
Germline

Chr2:151697640

Pathogenic/Likely pathogenic

Condition: not provided
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA348826023

rs_1259297878

3 SubmittersRCV000712377 RCV001059086 RCV003465650

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

SNV
Germline

Chr9:91724819

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5120613

rs_117134265

8 SubmittersRCV000732649 RCV000855500 RCV000903196 RCV001310261 RCV005047000 RCV005897260

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

SNV
Germline

Chr10:72161537

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA5548982

rs_747595523

8 SubmittersRCV000855457 RCV001004046 RCV000791458 RCV001796204

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

SNV
Germline

Chr2:151561279

Pathogenic/Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA348795582

rs_1559940778

2 SubmittersRCV000778566 RCV003465706

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

SNV
Germline

Chr18:10797517

Pathogenic

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

Criteria Provided
Single Submitter

CA401925060

rs_1568069621

2 SubmittersRCV000779589 RCV000855470

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

SNV
Germline

Chr2:151491697

Pathogenic

Nemaline myopathy
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA1905811

rs_760200697

4 SubmittersRCV000781652 RCV001214341 RCV004569492

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

SNV
Germline

Chr2:151527528

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA1906876

rs_750900690

5 SubmittersRCV000780533 RCV001869153 RCV003467310 RCV004719983 RCV005029436

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

SNV
Germline

Chr2:151545911

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA1907244

rs_777819332

4 SubmittersRCV000780532 RCV001384439 RCV001731923 RCV005029435

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

SNV
Germline

Chr6:152122594

Pathogenic/Likely pathogenic

Arthrogryposis multiplex congenita 3, myogenic type
Cleft lip/palate

Criteria Provided
Multiple Submitters
No Conflicts

CA4052600

rs_746177326

3 SubmittersRCV000787309 RCV005626209

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

SNV
Germline

Chr2:151493797

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1905968

rs_201291446

5 SubmittersRCV000822717 RCV003130076 RCV002501141

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

SNV
Germline

Chr2:151494161

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA1905996

rs_202048855

6 SubmittersRCV000814228 RCV003472421 RCV005029499 RCV005253145 RCV005645182

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

SNV
Germline

Chr2:151498295

Pathogenic/Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA348779212

rs_1323364980

2 SubmittersRCV000795495 RCV003472345

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

SNV
Germline

Chr2:151506189

Pathogenic/Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA1906309

rs_537560378

2 SubmittersRCV000800326 RCV003467382

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

SNV
Germline

Chr2:151562643

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1907835

rs_374606967

7 SubmittersRCV000801391 RCV002222638 RCV002507387 RCV004639361

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

SNV
Germline

Chr2:151640659

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1909597

rs_750548574

8 SubmittersRCV000810643 RCV002507410 RCV003130061 RCV003467443 RCV005253141

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

SNV
Germline

Chr2:151656167

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1910094

rs_201758329

4 SubmittersRCV000821245 RCV002487840 RCV003132105

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

SNV
Germline

Chr2:151723381

Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA348790210

rs_1577833924

2 SubmittersRCV000793645 RCV003467335

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

SNV
Germline

Chr2:151695577

Pathogenic/Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA348824805

rs_750585238

2 SubmittersRCV000807407 RCV003467420

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

SNV
Germline

Chr6:152318265

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA366112657

rs_759460806

8 SubmittersRCV000002415 RCV000826129 RCV001265815 RCV000993140 RCV001383383 RCV005036235

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
not specified

Criteria Provided
Conflicting Classifications

CA602099

rs_79282181

5 SubmittersRCV000855522 RCV002064422 RCV003908141 RCV006448650

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

SNV
Germline

Chr1:197128563

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA1310334

rs_774338373

3 SubmittersRCV000855491 RCV003453775 RCV001816923

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

SNV
Germline

Chr1:229432063

Pathogenic

Arthrogryposis multiplex congenita
Fetal akinesia deformation sequence 1
Actin accumulation myopathy
Condition: not provided
Congenital myopathy 2b, severe infantile, autosomal recessive
Congenital myopathy 2c, severe infantile, autosomal dominant
Progressive scapulohumeroperoneal distal myopathy
Actin accumulation myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA345146753

rs_1057521117

4 SubmittersRCV000855456 RCV003517274 RCV005628863 RCV006605306

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

CA350998301

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

CA358089925

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

CA3067930

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

CA370431037

rs_1588980220

2 SubmittersRCV000855490 RCV002536200

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

SNV
Germline

Chr8:18075578

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4651083

rs_200758704

4 SubmittersRCV000855489 RCV000983934 RCV001164025

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

SNV
Germline

Chr11:47441729

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA380329822

rs_1040279711

2 SubmittersRCV000855474 RCV005359606

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

SNV
Germline

Chr12:51699582

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385226373

rs_1592387849

2 SubmittersRCV000855503 RCV001775152

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

SNV
Germline

Chr13:101176356

Likely pathogenic

Arthrogryposis multiplex congenita
Fetal akinesia deformation sequence 1

Criteria Provided
Single Submitter

CA388702919

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

CA388704839

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

CA7036526

rs_762389271

1 SubmittersRCV000855469

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

SNV
Germline

Chr14:102033428

Conflicting classifications of pathogenicity

Fetal akinesia deformation sequence 1
Arthrogryposis multiplex congenita
Charcot-Marie-Tooth disease axonal type 2O
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7353397

rs_778115137

3 SubmittersRCV000855520 RCV001366306 RCV006450363

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

SNV
Germline

Chr14:102043961

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA488186538

rs_1595633027

2 SubmittersRCV000855523 RCV001367404

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

SNV
Germline

Chr16:23535032

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7962501

rs_749912939

4 SubmittersRCV000855494 RCV001310323 RCV005359607

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

SNV
Germline

Chr17:42683822

Pathogenic

Arthrogryposis multiplex congenita
Fetal akinesia deformation sequence 1

Criteria Provided
Single Submitter

CA399632041

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

CA399642944

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

CA400631560

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

CA8892803

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

CA405305171

rs_1201430967

1 SubmittersRCV000855466

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

SNV
Germline

Chr19:35131510

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9373323

rs_201728190

2 SubmittersRCV000855465 RCV004820124

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

SNV
Unknown

Chr19:38457540

Likely pathogenic

Arthrogryposis multiplex congenita
Fetal akinesia deformation sequence 1

Criteria Provided
Single Submitter

CA405693870

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

CA062941

rs_755496104

1 SubmittersRCV000855475

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

SNV
Germline

Chr19:38499991

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA405669567

rs_1600822174

3 SubmittersRCV000855484 RCV002275162 RCV003117621

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

SNV
Germline

Chr19:38504317

Likely pathogenic

Arthrogryposis multiplex congenita
Fetal akinesia deformation sequence 1
Centronuclear myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA405676016

rs_1600843056

2 SubmittersRCV000855478 RCV004586957

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

SNV
Germline

Chr19:38517691

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA405693508

rs_1600892115

2 SubmittersRCV000855480 RCV004803279

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

SNV
Unknown

Chr19:38572270

Likely pathogenic

Arthrogryposis multiplex congenita
Fetal akinesia deformation sequence 1

Criteria Provided
Single Submitter

CA507356267

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

CA415073373

rs_1603040061

1 SubmittersRCV000855493

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

SNV
Germline

Chr2:151513681

Pathogenic

Nemaline myopathy 2
Nemaline myopathy
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA348751942

rs_1575714905

5 SubmittersRCV000986832 RCV001526961 RCV003467544

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

SNV
Germline

Chr2:151524562

Pathogenic/Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA348765022

rs_1576203853

3 SubmittersRCV000986834 RCV004569829

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

SNV
Germline

Chr2:151619711

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA348788689

rs_779909544

4 SubmittersRCV000986840 RCV005021290 RCV004569830

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

SNV
Germline

Chr12:100283076

Pathogenic

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

Criteria Provided
Single Submitter

CA6737976

rs_760124743

2 SubmittersRCV001000099

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

SNV
Germline

Chr2:151603685

Pathogenic/Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6
NEB-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA348772320

rs_1212374733

4 SubmittersRCV001004942 RCV003467576 RCV004553551

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

SNV
Germline

Chr2:151492167

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA1905855

rs_767709270

7 SubmittersRCV001007837 RCV002497328 RCV003141928 RCV003117687 RCV003473553

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

SNV
Germline

Chr2:151609807

Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6
Nemaline myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA348776468

rs_1374971806

3 SubmittersRCV001027690 RCV003467698 RCV005253684

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

SNV
Germline

Chr2:151643346

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA348813999

rs_1389374032

4 SubmittersRCV001044618 RCV003467734 RCV005253690 RCV005021365

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

SNV
Germline

Chr2:151656386

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1910136

rs_747729019

4 SubmittersRCV001049602 RCV002481951 RCV006367584

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

SNV
Germline

Chr2:151567481

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA348804231

rs_1177405905

3 SubmittersRCV001050990 RCV005029617 RCV005253694

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

SNV
Germline

Chr2:151675285

Pathogenic/Likely pathogenic

Nemaline myopathy 2
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA348817851

rs_2099350888

2 SubmittersRCV001048753 RCV005021371

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

SNV
Germline

Chr2:151607503

Pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA348774681

rs_2097758221

2 SubmittersRCV001048805 RCV003462542

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

SNV
Germline

Chr2:151570496

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA1908300

rs_747946275

5 SubmittersRCV001043979 RCV001824918 RCV001784590 RCV002481909

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

SNV
Germline

Chr2:151524311

Pathogenic/Likely pathogenic

Condition: not provided
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA348764340

rs_1474341248

2 SubmittersRCV001091990 RCV003469285

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

SNV
Germline

Chr2:151565822

Pathogenic/Likely pathogenic

Condition: not provided
Arthrogryposis multiplex congenita 6
Nemaline myopathy 2

Criteria Provided
Multiple Submitters
No Conflicts

CA57659278

rs_925947627

3 SubmittersRCV001091991 RCV003469286 RCV003769022

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

SNV
Germline

Chr2:151612274

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1908693

rs_556930902

8 SubmittersRCV001134806 RCV001508087 RCV003331049 RCV002491403

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

SNV
Germline

Chr2:151663746

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1910339

rs_200468391

5 SubmittersRCV001133833 RCV001553418 RCV005394756 RCV004548010

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

SNV
Germline

Chr2:151677768

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1910867

rs_767493706

6 SubmittersRCV001135461 RCV002491404 RCV003438662 RCV005443249

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

SNV
Germline

Chr6:152352130

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4056684

rs_76410834

4 SubmittersRCV001151368 RCV001151369 RCV001340078 RCV003142081 RCV005394769

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

SNV
Germline

Chr6:152449556

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4058835

rs_149415204

4 SubmittersRCV001156270 RCV001859019 RCV001156271 RCV003142086 RCV005394770

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

SNV
Germline

Chr2:151516533

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA1906519

rs_555582398

7 SubmittersRCV001175588 RCV001580057 RCV001222350 RCV004570330

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

SNV
Germline

Chr2:151629595

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA348798091

rs_1301228529

5 SubmittersRCV001222507 RCV003469384 RCV005021528 RCV005633958 RCV005253747

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

SNV
Germline

Chr2:151496360

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA1906056

rs_758277406

3 SubmittersRCV001212317 RCV001814281 RCV005029770

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

SNV
Germline

Chr2:151684966

Pathogenic/Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA348822477

rs_1333519240

3 SubmittersRCV001201520 RCV003469320

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

SNV
Germline

Chr2:151724292

Pathogenic/Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA348791984

rs_1032240985

2 SubmittersRCV001235353 RCV003469430

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

SNV
Germline

Chr2:151551779

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1907501

rs_534519331

4 SubmittersRCV001241152 RCV004960625 RCV005394867

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

SNV
Germline

Chr2:151551831

Pathogenic/Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA348787326

rs_2095359371

2 SubmittersRCV001241288 RCV003473820

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

SNV
Germline

Chr2:151553405

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1907558

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

CA1910710

rs_762809955

3 SubmittersRCV001242827 RCV003448382

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

SNV
Germline

Chr9:129814019

Pathogenic

Arthrogryposis multiplex congenita 5

No Assertion Criteria Provided

CA375197434

rs_2030965698

1 SubmittersRCV001250910

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

SNV
Germline

Chr19:35126297

Likely pathogenic

Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect

Criteria Provided
Single Submitter

CA405303811

rs_2065136111

1 SubmittersRCV001251121

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

SNV
Germline

Chr2:151706880

Pathogenic

Nemaline myopathy
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA1911683

rs_398124167

4 SubmittersRCV001251277 RCV001830055 RCV003469483

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

SNV
Germline

Chr4:122230212

Likely pathogenic

Severe hydrocephalus
Arthrogryposis multiplex congenita
Clubfoot

Criteria Provided
Single Submitter

CA3066103

rs_775292946

1 SubmittersRCV001257375

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

SNV
Germline

Chr2:151549652

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA348786576

rs_1487589344

4 SubmittersRCV001279751 RCV002480915 RCV003365298

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

SNV
Germline

Chr2:151696662

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1911545

rs_368150737

6 SubmittersRCV001317075 RCV002493656 RCV003132405 RCV004034411

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

SNV
Germline

Chr2:151631181

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA348799770

rs_2098659971

4 SubmittersRCV001907888 RCV005014731 RCV005253913

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

SNV
Germline

Chr2:151548333

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1907430

rs_781250495

6 SubmittersRCV001337749 RCV002504528 RCV003130477 RCV005443327 RCV005911123

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

SNV
Germline

Chr2:151489985

Conflicting classifications of pathogenicity

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Conflicting Classifications

CA1905727

rs_376984481

3 SubmittersRCV001374092 RCV004815490

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

SNV
Germline

Chr2:151563931

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA348800471

rs_1203257517

5 SubmittersRCV001377790 RCV002307737 RCV002504630 RCV003473906

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

SNV
Germline

Chr2:151609804

Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6
Nemaline myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA1908541

rs_763163879

3 SubmittersRCV001378886 RCV003469637 RCV005253825

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

SNV
Germline

Chr2:151627207

Conflicting classifications of pathogenicity

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6
Nemaline myopathy

Criteria Provided
Conflicting Classifications

CA348793739

rs_1435980710

3 SubmittersRCV001377109 RCV003469622 RCV005253818

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

SNV
Germline

Chr2:151669026

Likely pathogenic

Nemaline myopathy 2
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA348814909

rs_1233792020

2 SubmittersRCV001376875 RCV005023118

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

SNV
Germline

Chr2:151669132

Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6
Nemaline myopathy 2

Criteria Provided
Multiple Submitters
No Conflicts

CA348815170

rs_2154185810

2 SubmittersRCV001377628 RCV002499776

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

SNV
Germline

Chr2:151682771

Pathogenic/Likely pathogenic

Nemaline myopathy 2
Condition: not provided
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA348821755

rs_1208297049

4 SubmittersRCV001379441 RCV001780296 RCV003462962

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

SNV
Germline

Chr2:151709764

Pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA348786465

rs_1162553327

2 SubmittersRCV001379432 RCV003469639

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

SNV
Germline

Chr2:151723487

Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA348791703

rs_767693366

2 SubmittersRCV001378539 RCV003473910

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

SNV
Germline

Chr2:151561054

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA348794687

rs_2153702280

4 SubmittersRCV001383444 RCV002282537 RCV003469696 RCV005023139

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

SNV
Germline

Chr2:151603659

Pathogenic/Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA348772208

rs_2153930733

2 SubmittersRCV001381646 RCV003473934

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

SNV
Germline

Chr2:151603733

Pathogenic/Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA348772521

rs_1278785558

2 SubmittersRCV001383589 RCV003473946

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

SNV
Germline

Chr2:151604623

Pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA348772927

rs_2153939368

2 SubmittersRCV001386832 RCV003469724

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

SNV
Germline

Chr2:151639943

Pathogenic/Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6
Nemaline myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA348809233

rs_1351747266

3 SubmittersRCV001387965 RCV004570966 RCV005253836

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

SNV
Germline

Chr2:151677738

Pathogenic/Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6
Nemaline myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA1910865

rs_748453057

3 SubmittersRCV001389858 RCV003473993 RCV005253841

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

SNV
Germline

Chr2:151690826

Pathogenic/Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA348823515

rs_2149103521

2 SubmittersRCV001389495 RCV003463030

NM_182961.4(SYNE1):c.16111C>T (p.Arg5371Ter)

SNV
Germline

Chr6:152321363

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA4055606

rs_772587027

3 SubmittersRCV001385856 RCV003159545 RCV006257336

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

SNV
Germline

Chr2:151562716

Pathogenic

Arthrogryposis multiplex congenita 6

No Assertion Criteria Provided

CA348797980

rs_374874999

1 SubmittersRCV001449899

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

SNV
Germline

Chr2:151561109

Likely pathogenic

Arthrogryposis multiplex congenita 6
Nemaline myopathy

Criteria Provided
Single Submitter

CA348795125

rs_2153702473

2 SubmittersRCV001449901 RCV005253847

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

SNV
Germline

Chr2:151612272

Pathogenic/Likely pathogenic

Condition: not provided
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA1908691

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

CA1909582

rs_762881892

3 SubmittersRCV001589777 RCV003474012 RCV002501944

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

SNV
Germline

Chr19:35126608

Likely pathogenic

Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect

No Assertion Criteria Provided

CA405306412

rs_2065139570

1 SubmittersRCV001844373

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

SNV
Germline

Chr2:151579337

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA348750316

rs_1227806763

5 SubmittersRCV001730067 RCV002511098 RCV003323920 RCV005014623

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

SNV
Germline

Chr2:151492209

Pathogenic/Likely pathogenic

Condition: not provided
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA1905861

rs_758327681

3 SubmittersRCV001784725 RCV001885165 RCV003470907

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

SNV
Germline

Chr2:151724259

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA348791792

rs_1202331107

3 SubmittersRCV001784728 RCV003514523 RCV005014659

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

SNV
Germline

Chr19:35134620

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9373472

rs_140614229

5 SubmittersRCV001782382 RCV002541202 RCV002541201

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

SNV
Germline

Chr2:151552671

Pathogenic/Likely pathogenic

Condition: not provided
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA348787499

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

CA366078625

rs_1562922141

1 SubmittersRCV001813905

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

SNV
Germline

Chr2:151650262

Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6
Nemaline myopathy 2

Criteria Provided
Multiple Submitters
No Conflicts

CA348788072

rs_2154134234

2 SubmittersRCV001823584 RCV002489890

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

SNV
Germline

Chr2:151490488

Pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA348771135

rs_2055484249

2 SubmittersRCV001919308 RCV003471062

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

SNV
Germline

Chr2:151553494

Pathogenic/Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA348790285

rs_1335300113

2 SubmittersRCV001905783 RCV003475144

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

SNV
Germline

Chr2:151695683

Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA348825051

rs_1390328608

2 SubmittersRCV001991876 RCV004571934

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

SNV
Germline

Chr2:151664793

Pathogenic/Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA348811441

rs_2154175437

3 SubmittersRCV001946731 RCV004571728

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

SNV
Germline

Chr2:151666373

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1910537

rs_761956085

4 SubmittersRCV001905904 RCV003458102 RCV004953286 RCV005397110

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

SNV
Germline

Chr2:151697147

Pathogenic/Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6
Nemaline myopathy 2

Criteria Provided
Multiple Submitters
No Conflicts

CA348825281

rs_1220787593

2 SubmittersRCV005025555 RCV001995275

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

SNV
Germline

Chr2:151727690

Pathogenic/Likely pathogenic

Nemaline myopathy 2
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA1911960

rs_759956258

4 SubmittersRCV001992569 RCV005025482

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

SNV
Germline

Chr2:151490403

Pathogenic/Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA348770960

rs_1433028646

2 SubmittersRCV001949648 RCV003471192

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

SNV
Germline

Chr2:151672672

Pathogenic/Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6
Nemaline myopathy 2

Criteria Provided
Multiple Submitters
No Conflicts

CA348817178

rs_1559093497

2 SubmittersRCV001994822 RCV005016937

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

SNV
Germline

Chr2:151533548

Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA348772003

rs_1212081578

2 SubmittersRCV002038269 RCV004571962

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

SNV
Germline

Chr2:151490045

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA1905739

rs_778104284

5 SubmittersRCV001960729 RCV003475221 RCV005253969 RCV005635375

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

SNV
Germline

Chr2:151491704

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA1905813

rs_777232352

6 SubmittersRCV001870159 RCV003475120 RCV002511103 RCV006257342 RCV005253907

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

SNV
Germline

Chr2:151514817

Likely pathogenic

Nemaline myopathy 2
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA57618706

rs_111833078

2 SubmittersRCV001979522 RCV005016970

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

SNV
Germline

Chr2:151663547

Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6
Nemaline myopathy 2

Criteria Provided
Multiple Submitters
No Conflicts

CA348807013

rs_2154172204

2 SubmittersRCV002037618 RCV005023280

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

SNV
Germline

Chr2:151666279

Pathogenic/Likely pathogenic

Arthrogryposis multiplex congenita 6
Nemaline myopathy 2

Criteria Provided
Multiple Submitters
No Conflicts

CA348813722

rs_2154179061

2 SubmittersRCV003475154 RCV001913326

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

SNV
Germline

Chr2:151560612

Pathogenic/Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA348793753

rs_2153700128

2 SubmittersRCV001913107 RCV003471025

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

SNV
Germline

Chr2:151524416

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA348764911

rs_949331605

4 SubmittersRCV002025272 RCV003471226 RCV005253999 RCV005017008

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

SNV
Germline

Chr2:151664754

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA2573133252

rs_2154175371

6 SubmittersRCV001956264 RCV002507704 RCV004587274 RCV004571745

NM_001164508.2(NEB):c.21751C>T (p.Gln7251Ter)

SNV
Germline

Chr2:151527570

Pathogenic/Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6
Nemaline myopathy 2

Criteria Provided
Multiple Submitters
No Conflicts

CA348769093

rs_373946758

2 SubmittersRCV001956117 RCV005925361

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

SNV
Germline

Chr2:151725562

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA348794045

rs_1428300892

4 SubmittersRCV001992292 RCV003475280 RCV005017043 RCV005254008

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

SNV
Germline

Chr2:151553476

Pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA348790169

rs_2153657682

2 SubmittersRCV001987212 RCV003471084

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

SNV
Germline

Chr6:152149519

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4053140

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

CA8391895

rs_539272823

2 SubmittersRCV002269802 RCV003560907

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

SNV
Germline

Chr6:152262049

Pathogenic

Arthrogryposis multiplex congenita 3, myogenic type

Criteria Provided
Single Submitter

CA366089743

rs_368468256

1 SubmittersRCV002285129

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

SNV
Germline

Chr6:152189270

Pathogenic

Arthrogryposis multiplex congenita 3, myogenic type

Criteria Provided
Single Submitter

CA366093994

rs_2551032977

1 SubmittersRCV002285130

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

SNV
Unknown

Chr2:151656237

Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA348798831

rs_2099084606

2 SubmittersRCV002306961 RCV004572232

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

SNV
Germline

Chr2:151692070

Likely pathogenic

Nemaline myopathy 2
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA348823809

rs_2099555780

2 SubmittersRCV002307015 RCV005019177

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

SNV
Germline

Chr2:151506909

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1906331

rs_769787871

3 SubmittersRCV002462363 RCV005397432 RCV003103118

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

SNV
Germline

Chr2:151492410

Conflicting classifications of pathogenicity

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6
Nemaline myopathy 2

Criteria Provided
Conflicting Classifications

CA1905896

rs_376973987

2 SubmittersRCV003078939 RCV003448477

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

SNV
Germline

Chr2:151568082

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1908097

rs_79562044

4 SubmittersRCV002637537 RCV004725558 RCV004961135 RCV005399139

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

SNV
Germline

Chr2:151692086

Likely pathogenic

Nemaline myopathy
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA348823842

rs_2552267817

3 SubmittersRCV002510267 RCV002571593 RCV003465777

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

SNV
Germline

Chr2:151514316

Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA57618337

rs_112610938

2 SubmittersRCV002569913 RCV003475393

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

SNV
Germline

Chr2:151505572

Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA348783503

rs_113925788

2 SubmittersRCV002581418 RCV003465787

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

SNV
Germline

Chr2:151525162

Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA1906727

rs_765866533

2 SubmittersRCV002594750 RCV003465796

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

SNV
Germline

Chr2:151644566

Pathogenic/Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA348783516

rs_1248414885

2 SubmittersRCV002634728 RCV003465799

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

SNV
Germline

Chr2:151609977

Pathogenic/Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6
Congenital myopathy
Nemaline myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA348777384

rs_2097887468

4 SubmittersRCV002705678 RCV004571212 RCV005626683 RCV005254127

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

SNV
Germline

Chr2:151497034

Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6
Nemaline myopathy 2

Criteria Provided
Multiple Submitters
No Conflicts

CA348778666

rs_2551843345

2 SubmittersRCV002818982 RCV005019407

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

SNV
Germline

Chr2:151524416

Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA57624776

rs_949331605

2 SubmittersRCV002861794 RCV003475440

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

SNV
Germline

Chr2:151684955

Pathogenic/Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6
Nemaline myopathy 2

Criteria Provided
Multiple Submitters
No Conflicts

CA348822453

rs_2552265386

2 SubmittersRCV002894848 RCV005027998

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

SNV
Germline

Chr2:151643328

Pathogenic/Likely pathogenic

Nemaline myopathy 2
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA348813915

rs_2552247008

2 SubmittersRCV003017975 RCV005028113

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

SNV
Germline

Chr2:151618435

Pathogenic/Likely pathogenic

Nemaline myopathy 2
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA348786535

rs_2552232114

2 SubmittersRCV003020002 RCV005019573

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

SNV
Germline

Chr2:151568159

Pathogenic/Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA348804790

rs_2552194237

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

CA405314801

rs_2513330090

1 SubmittersRCV003146992

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

SNV
Germline

Chr9:129814127

Likely pathogenic

Arthrogryposis multiplex congenita 5

Criteria Provided
Multiple Submitters
No Conflicts

CA5278524

rs_753220814

2 SubmittersRCV003155900

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

SNV
Germline

Chr3:101364836

Likely pathogenic

arthrogryposis multiplex congenita with neutropenia and early respiratory failure

Criteria Provided
Single Submitter

CA353840644

rs_777487611

1 SubmittersRCV003226605

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

SNV
Germline

Chr2:151636226

Likely pathogenic

Nemaline myopathy
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA57660925

rs_143644938

2 SubmittersRCV005254754 RCV003228233

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

SNV
Germline

Chr2:151627179

Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA348793559

rs_1560619891

2 SubmittersRCV003229530 RCV003475548

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

SNV
Germline

Chr6:152381154

Likely pathogenic

Arthrogryposis multiplex congenita 3, myogenic type

Criteria Provided
Single Submitter

CA366144181

rs_145819043

1 SubmittersRCV003340971

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

SNV
Unknown

Chr2:151656024

Pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

CA348798296

rs_2552252715

1 SubmittersRCV003471402

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

SNV
Unknown

Chr2:151724344

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

CA348792277

rs_2552279432

1 SubmittersRCV003471403

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

SNV
Unknown

Chr2:151507014

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

CA348784899

rs_2552010360

1 SubmittersRCV003471404

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

SNV
Germline

Chr2:151502886

Likely pathogenic

Arthrogryposis multiplex congenita 6
Nemaline myopathy 2

Criteria Provided
Multiple Submitters
No Conflicts

CA348781969

rs_2551936300

2 SubmittersRCV003471406 RCV003629278

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

SNV
Unknown

Chr2:151485934

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

CA348770169

rs_1553508368

1 SubmittersRCV003476527

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

SNV
Unknown

Chr2:151618453

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

CA348786657

rs_2552232124

1 SubmittersRCV003471408

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

SNV
Unknown

Chr2:151706976

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

CA348826265

rs_2552273413

1 SubmittersRCV003476528

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

SNV
Unknown

Chr2:151508101

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

CA348785601

rs_1575514028

1 SubmittersRCV003476529

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

SNV
Unknown

Chr2:151710518

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

CA348787020

rs_2552275070

1 SubmittersRCV003471411

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

SNV
Unknown

Chr2:151631320

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

CA348801358

rs_2552238380

1 SubmittersRCV003471413

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

SNV
Unknown

Chr2:151541552

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

CA348779120

rs_2552160214

1 SubmittersRCV003476531

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

SNV
Unknown

Chr2:151530992

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

CA348770134

rs_2552139054

1 SubmittersRCV003471414

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

SNV
Unknown

Chr2:151526199

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

CA348766826

rs_2552117623

1 SubmittersRCV003471415

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

SNV
Unknown

Chr2:151494160

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

CA348776584

rs_2058584112

1 SubmittersRCV003476532

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

SNV
Unknown

Chr2:151581515

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

CA348754109

rs_2552208262

1 SubmittersRCV003471418

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

SNV
Unknown

Chr2:151697349

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

CA348825540

rs_1379418184

1 SubmittersRCV003471419

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

SNV
Unknown

Chr2:151610625

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

CA348778332

rs_2552227879

1 SubmittersRCV003476535

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

SNV
Unknown

Chr2:151489970

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

CA348770667

rs_2551643451

1 SubmittersRCV003471421

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

SNV
Unknown

Chr2:151612326

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

CA348780464

rs_1318105962

1 SubmittersRCV003476538

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

SNV
Unknown

Chr2:151592066

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

CA348762478

rs_2552216787

1 SubmittersRCV003471423

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

SNV
Germline

Chr2:151609919

Pathogenic/Likely pathogenic

Arthrogryposis multiplex congenita 6
Nemaline myopathy 2

Criteria Provided
Multiple Submitters
No Conflicts

CA348777111

rs_2552227195

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

CA348804838

rs_2552194255

1 SubmittersRCV003471427

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

SNV
Unknown

Chr2:151692338

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

CA348824212

rs_1445629270

1 SubmittersRCV003471428

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

SNV
Unknown

Chr2:151616001

Pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

CA348783593

rs_1553901249

1 SubmittersRCV003471429

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

SNV
Germline

Chr2:151640524

Likely pathogenic

Arthrogryposis multiplex congenita 6
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA1909563

rs_772959616

2 SubmittersRCV003471430 RCV005927717

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

SNV
Germline

Chr2:151678053

Pathogenic/Likely pathogenic

Arthrogryposis multiplex congenita 6
Nemaline myopathy 2
Nemaline myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA1910918

rs_767079113

3 SubmittersRCV003471432 RCV003514645 RCV005254794

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

SNV
Unknown

Chr2:151490520

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

CA348771236

rs_2551672017

1 SubmittersRCV003476544

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

SNV
Unknown

Chr2:151662198

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

CA348805752

rs_2552255512

1 SubmittersRCV003471435

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

SNV
Unknown

Chr2:151697457

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

CA348825789

rs_200298261

1 SubmittersRCV003476545

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

SNV
Unknown

Chr2:151576303

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

CA348810884

rs_2552199770

1 SubmittersRCV003476546

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

SNV
Unknown

Chr2:151639386

Pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

CA348807848

rs_2552242957

1 SubmittersRCV003471436

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

SNV
Germline

Chr2:151694348

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA348824340

rs_2552268543

3 SubmittersRCV003476547 RCV005021974 RCV005419630

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

SNV
Germline

Chr2:151508111

Likely pathogenic

Arthrogryposis multiplex congenita 6
Nemaline myopathy 2

Criteria Provided
Multiple Submitters
No Conflicts

CA348785659

rs_2552036488

2 SubmittersRCV003471439 RCV003779061

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

SNV
Unknown

Chr2:151489970

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

CA348770665

rs_2551643451

1 SubmittersRCV003476551

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

SNV
Unknown

Chr2:151620918

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

CA348789070

rs_1553915731

1 SubmittersRCV003476554

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

SNV
Unknown

Chr2:151526070

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

CA348766468

rs_2552116988

1 SubmittersRCV003476556

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

SNV
Germline

Chr2:151650708

Pathogenic/Likely pathogenic

Arthrogryposis multiplex congenita 6
Nemaline myopathy 2

Criteria Provided
Multiple Submitters
No Conflicts

CA348789957

rs_2552249907

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

CA348773649

rs_2552224168

1 SubmittersRCV003476561

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

SNV
Unknown

Chr2:151592119

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

CA348762599

rs_1326281375

1 SubmittersRCV003476562

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

SNV
Unknown

Chr2:151570149

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

CA348807565

rs_2552195829

1 SubmittersRCV003476564

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

SNV
Unknown

Chr2:151655885

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

CA348797001

rs_2552252628

1 SubmittersRCV003471450

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

SNV
Unknown

Chr2:151691897

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

CA348823599

rs_2552267736

1 SubmittersRCV003476565

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

SNV
Unknown

Chr2:151604811

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

CA348773834

rs_1057524648

1 SubmittersRCV003476566

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

SNV
Unknown

Chr2:151518964

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

CA348760130

rs_2552090974

1 SubmittersRCV003471454

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

SNV
Unknown

Chr2:151709755

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

CA348786393

rs_2552274637

1 SubmittersRCV003476571

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

SNV
Germline

Chr2:151627607

Pathogenic/Likely pathogenic

Arthrogryposis multiplex congenita 6
Nemaline myopathy 2

Criteria Provided
Multiple Submitters
No Conflicts

CA348794730

rs_768102065

2 SubmittersRCV003471457 RCV006473234

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

SNV
Unknown

Chr2:151513672

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

CA348751853

rs_766321668

1 SubmittersRCV003471459

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

SNV
Unknown

Chr2:151545914

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

CA348779900

rs_2552171912

1 SubmittersRCV003471462

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

SNV
Unknown

Chr2:151706998

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

CA348826321

rs_2552273429

1 SubmittersRCV003471463

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

SNV
Unknown

Chr2:151494160

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

CA348776581

rs_2058584112

1 SubmittersRCV003471464

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

SNV
Unknown

Chr2:151621002

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

CA348789415

rs_1200480325

1 SubmittersRCV003476574

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

SNV
Unknown

Chr2:151569346

Pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

CA348806123

rs_2552195317

1 SubmittersRCV003476575

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

SNV
Unknown

Chr2:151664500

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

CA348810060

rs_2552256921

1 SubmittersRCV003471466

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

SNV
Germline

Chr2:151603580

Pathogenic/Likely pathogenic

Arthrogryposis multiplex congenita 6
Nemaline myopathy 2

Criteria Provided
Multiple Submitters
No Conflicts

CA348771876

rs_2552222439

2 SubmittersRCV003471468 RCV004796812

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

SNV
Unknown

Chr2:151516473

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

CA348755539

rs_2552085287

1 SubmittersRCV003471470

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

SNV
Unknown

Chr2:151569347

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

CA348806130

rs_2096546315

1 SubmittersRCV003463111

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

SNV
Unknown

Chr2:151706964

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

CA348826235

rs_2552273407

1 SubmittersRCV003471471

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

SNV
Germline

Chr2:151724963

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA348792874

rs_2552279789

3 SubmittersRCV003471474 RCV003629284 RCV005021977

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

SNV
Unknown

Chr2:151514929

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

CA348754956

rs_2552081312

1 SubmittersRCV003471477

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

SNV
Unknown

Chr2:151591411

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

CA348762286

rs_1453402449

1 SubmittersRCV003471484

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

SNV
Germline

Chr2:151535783

Pathogenic/Likely pathogenic

Arthrogryposis multiplex congenita 6
Nemaline myopathy 2

Criteria Provided
Multiple Submitters
No Conflicts

CA348773155

rs_1266187397

2 SubmittersRCV003463117 RCV003514647

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

SNV
Unknown

Chr2:151672620

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

CA348817058

rs_1559092256

1 SubmittersRCV003463119

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

SNV
Unknown

Chr2:151697435

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

CA348825734

rs_2552270108

1 SubmittersRCV003463122

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

SNV
Germline

Chr2:151650573

Likely pathogenic

Arthrogryposis multiplex congenita 6
Nemaline myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA348789036

rs_1459939417

2 SubmittersRCV003463124 RCV005254796

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

SNV
Unknown

Chr2:151677902

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

CA348818882

rs_749655119

1 SubmittersRCV003463127

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

SNV
Germline

Chr2:151671230

Likely pathogenic

Arthrogryposis multiplex congenita 6
Nemaline myopathy 2

Criteria Provided
Multiple Submitters
No Conflicts

CA348816146

rs_1331062755

2 SubmittersRCV003463128 RCV003779063

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

SNV
Unknown

Chr2:151680728

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

CA348820974

rs_2552263977

1 SubmittersRCV003463130

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

SNV
Unknown

Chr2:151679792

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

CA348820242

rs_192117840

1 SubmittersRCV003463133

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

SNV
Germline

Chr2:151518407

Pathogenic/Likely pathogenic

Nemaline myopathy 2
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA1906552

rs_748990736

2 SubmittersRCV003628845 RCV005030213

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

SNV
Germline

Chr6:152255693

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4054746

rs_748717377

2 SubmittersRCV003807076 RCV005040527

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

SNV
Germline

Chr2:151667802

Likely pathogenic

Nemaline myopathy 2
Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

CA348814170

rs_1553501889

2 SubmittersRCV003825593 RCV005014993

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

SNV
Germline

Chr6:152143736

Pathogenic/Likely pathogenic

Autosomal recessive ataxia, Beauce type
Condition: not provided
Arthrogryposis multiplex congenita 3, myogenic type

Criteria Provided
Multiple Submitters
No Conflicts

CA4052977

rs_760678661

3 SubmittersRCV003985000 RCV005631260 RCV005358082

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

SNV
Unknown

Chr2:151619731

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

rs_2098336133

1 SubmittersRCV004576323

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

SNV
Unknown

Chr2:151691902

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

rs_2552267739

1 SubmittersRCV004576325

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

SNV
Germline

Chr2:151540803

Likely pathogenic

Arthrogryposis multiplex congenita 6
Nemaline myopathy 2

Criteria Provided
Multiple Submitters
No Conflicts

rs_2552157271

2 SubmittersRCV004576327 RCV006488962

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

SNV
Unknown

Chr2:151498277

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

rs_2551871389

1 SubmittersRCV004576328

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

SNV
Unknown

Chr2:151538208

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

rs_2552151159

1 SubmittersRCV004576329

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

SNV
Unknown

Chr2:151659170

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

rs_2099118735

1 SubmittersRCV004576330

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

SNV
Unknown

Chr2:151581563

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

rs_2552208321

1 SubmittersRCV004576331

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

SNV
Unknown

Chr2:151725452

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

rs_2552279972

1 SubmittersRCV004576332

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

SNV
Unknown

Chr2:151684841

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

rs_1466946196

1 SubmittersRCV004576333

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

SNV
Unknown

Chr2:151537967

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

rs_2552150723

1 SubmittersRCV004576335

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

SNV
Unknown

Chr2:151619640

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

rs_2098334069

1 SubmittersRCV004576341

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

SNV
Unknown

Chr2:151625533

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

rs_111863059

1 SubmittersRCV004576344

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

SNV
Germline

Chr2:151612363

Pathogenic/Likely pathogenic

Nemaline myopathy
Arthrogryposis multiplex congenita 6

Criteria Provided
Multiple Submitters
No Conflicts

rs_201719702

2 SubmittersRCV005254909 RCV004576347

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

SNV
Unknown

Chr2:151529306

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

rs_1416012783

1 SubmittersRCV004576351

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

SNV
Unknown

Chr2:151493370

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

rs_2551726011

1 SubmittersRCV004576352

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

SNV
Unknown

Chr2:151575694

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

rs_1474860245

1 SubmittersRCV004576353

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

SNV
Unknown

Chr2:151565606

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

rs_2096326746

1 SubmittersRCV004576355

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

SNV
Unknown

Chr2:151493858

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

rs_1464359123

1 SubmittersRCV004576358

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

SNV
Unknown

Chr2:151525226

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

rs_2552113620

1 SubmittersRCV004576360

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

SNV
Unknown

Chr2:151575779

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

rs_2096805941

1 SubmittersRCV004576361

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

SNV
Unknown

Chr2:151655907

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

rs_1281603759

1 SubmittersRCV004576362

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

SNV
Unknown

Chr2:151563711

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

rs_774109260

1 SubmittersRCV004576366

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

SNV
Germline

Chr2:151514925

Conflicting classifications of pathogenicity

Nemaline myopathy
Arthrogryposis multiplex congenita 6

Criteria Provided
Conflicting Classifications

rs_1209865784

2 SubmittersRCV005254911 RCV004576367

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

SNV
Unknown

Chr2:151650371

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

rs_1301275168

1 SubmittersRCV004576368

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

SNV
Unknown

Chr2:151506932

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

rs_1216517249

1 SubmittersRCV004576370

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

SNV
Unknown

Chr2:151665510

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

rs_765737421

1 SubmittersRCV004576371

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

SNV
Unknown

Chr2:151568166

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

rs_2552194244

1 SubmittersRCV004574325

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

SNV
Germline

Chr2:151627692

Pathogenic/Likely pathogenic

Arthrogryposis multiplex congenita 6
Nemaline myopathy 2

Criteria Provided
Multiple Submitters
No Conflicts

rs_2552236697

2 SubmittersRCV004574327 RCV005059554

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

SNV
Unknown

Chr2:151610595

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

rs_2552227856

1 SubmittersRCV004574331

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

SNV
Unknown

Chr2:151568180

Pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

rs_2552194256

1 SubmittersRCV004574333

NM_020654.5(SENP7):c.3088C>T (p.Arg1030Trp)

SNV
Germline

Chr3:101326008

Likely pathogenic

Arthrogryposis Multiplex Congenita and Immunodeficiency

Criteria Provided
Single Submitter

1 SubmittersRCV005627215

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

SNV
Germline

Chr2:151671163

Pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

1 SubmittersRCV004788626

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

SNV
Germline

Chr6:152442158

Pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV004795561

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

SNV
Germline

Chr6:152395586

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV004795562

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

SNV
Germline

Chr6:152325956

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV004795906

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

SNV
Germline

Chr9:129818879

Likely pathogenic

Arthrogryposis multiplex congenita 5

Criteria Provided
Single Submitter

1 SubmittersRCV004821435

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

SNV
Germline

Chr2:151494161

Likely pathogenic

Arthrogryposis multiplex congenita 6
Nemaline myopathy 2

Criteria Provided
Single Submitter

1 SubmittersRCV005028821

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

SNV
Germline

Chr2:151496976

Likely pathogenic

Arthrogryposis multiplex congenita 6
Nemaline myopathy 2

Criteria Provided
Single Submitter

1 SubmittersRCV005028824

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

SNV
Germline

Chr2:151513694

Likely pathogenic

Arthrogryposis multiplex congenita 6
Nemaline myopathy 2

Criteria Provided
Single Submitter

1 SubmittersRCV005028827

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

SNV
Germline

Chr2:151516495

Pathogenic

Arthrogryposis multiplex congenita 6
Nemaline myopathy 2

Criteria Provided
Single Submitter

1 SubmittersRCV005016091

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

SNV
Germline

Chr2:151516543

Likely pathogenic

Arthrogryposis multiplex congenita 6
Nemaline myopathy 2

Criteria Provided
Single Submitter

1 SubmittersRCV005028828

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

SNV
Germline

Chr2:151525274

Likely pathogenic

Arthrogryposis multiplex congenita 6
Nemaline myopathy 2

Criteria Provided
Single Submitter

1 SubmittersRCV005028830

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

SNV
Germline

Chr2:151529316

Likely pathogenic

Arthrogryposis multiplex congenita 6
Nemaline myopathy 2

Criteria Provided
Single Submitter

1 SubmittersRCV005028831

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

SNV
Germline

Chr2:151533548

Likely pathogenic

Arthrogryposis multiplex congenita 6
Nemaline myopathy 2

Criteria Provided
Single Submitter

1 SubmittersRCV005016094

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

SNV
Germline

Chr2:151541455

Likely pathogenic

Arthrogryposis multiplex congenita 6
Nemaline myopathy 2

Criteria Provided
Single Submitter

1 SubmittersRCV005016095

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

SNV
Germline

Chr2:151548417

Likely pathogenic

Arthrogryposis multiplex congenita 6
Nemaline myopathy 2

Criteria Provided
Single Submitter

1 SubmittersRCV005016097

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

SNV
Germline

Chr2:151562215

Likely pathogenic

Arthrogryposis multiplex congenita 6
Nemaline myopathy 2

Criteria Provided
Single Submitter

1 SubmittersRCV005028834

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

SNV
Germline

Chr2:151563822

Likely pathogenic

Arthrogryposis multiplex congenita 6
Nemaline myopathy 2

Criteria Provided
Single Submitter

1 SubmittersRCV005016099

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

SNV
Germline

Chr2:151565822

Likely pathogenic

Arthrogryposis multiplex congenita 6
Nemaline myopathy 2

Criteria Provided
Single Submitter

1 SubmittersRCV005016101

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

SNV
Germline

Chr2:151570351

Likely pathogenic

Arthrogryposis multiplex congenita 6
Nemaline myopathy 2

Criteria Provided
Single Submitter

1 SubmittersRCV005016104

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

SNV
Germline

Chr2:151576355

Likely pathogenic

Arthrogryposis multiplex congenita 6
Nemaline myopathy 2

Criteria Provided
Single Submitter

1 SubmittersRCV005016105

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

SNV
Germline

Chr2:151614274

Likely pathogenic

Arthrogryposis multiplex congenita 6
Nemaline myopathy 2

Criteria Provided
Single Submitter

1 SubmittersRCV005016107

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

SNV
Germline

Chr2:151650631

Likely pathogenic

Arthrogryposis multiplex congenita 6
Nemaline myopathy 2

Criteria Provided
Single Submitter

1 SubmittersRCV005016109

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

SNV
Germline

Chr2:151650887

Likely pathogenic

Arthrogryposis multiplex congenita 6
Nemaline myopathy 2

Criteria Provided
Single Submitter

1 SubmittersRCV005016110

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

SNV
Germline

Chr2:151655903

Likely pathogenic

Arthrogryposis multiplex congenita 6
Nemaline myopathy 2

Criteria Provided
Single Submitter

1 SubmittersRCV005028839

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

SNV
Germline

Chr2:151655951

Likely pathogenic

Arthrogryposis multiplex congenita 6
Nemaline myopathy 2

Criteria Provided
Single Submitter

1 SubmittersRCV005016112

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

SNV
Germline

Chr2:151656161

Likely pathogenic

Arthrogryposis multiplex congenita 6
Nemaline myopathy 2

Criteria Provided
Single Submitter

1 SubmittersRCV005016113

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

SNV
Germline

Chr2:151662342

Likely pathogenic

Arthrogryposis multiplex congenita 6
Nemaline myopathy 2

Criteria Provided
Single Submitter

1 SubmittersRCV005028842

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

SNV
Germline

Chr2:151665371

Likely pathogenic

Arthrogryposis multiplex congenita 6
Nemaline myopathy 2

Criteria Provided
Single Submitter

1 SubmittersRCV005016117

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

SNV
Germline

Chr2:151675286

Likely pathogenic

Arthrogryposis multiplex congenita 6
Nemaline myopathy 2

Criteria Provided
Single Submitter

1 SubmittersRCV005016120

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

SNV
Germline

Chr2:151687417

Likely pathogenic

Arthrogryposis multiplex congenita 6
Nemaline myopathy 2

Criteria Provided
Single Submitter

1 SubmittersRCV005028845

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

SNV
Germline

Chr2:151692109

Likely pathogenic

Arthrogryposis multiplex congenita 6
Nemaline myopathy 2

Criteria Provided
Single Submitter

1 SubmittersRCV005016123

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

SNV
Germline

Chr2:151710433

Likely pathogenic

Arthrogryposis multiplex congenita 6
Nemaline myopathy 2

Criteria Provided
Single Submitter

1 SubmittersRCV005028846

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

SNV
Germline

Chr2:151710526

Likely pathogenic

Arthrogryposis multiplex congenita 6
Nemaline myopathy 2

Criteria Provided
Single Submitter

1 SubmittersRCV005028847

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

SNV
Germline

Chr2:151614588

Likely pathogenic

Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

1 SubmittersRCV005207591

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

SNV
Germline

Chr2:151493447

Likely pathogenic

Nemaline myopathy 2
Arthrogryposis multiplex congenita 6

Criteria Provided
Single Submitter

1 SubmittersRCV005365736

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

SNV
Germline

Chr6:152455512

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005356852

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

SNV
Germline

Chr6:152148302

Likely pathogenic

Arthrogryposis multiplex congenita 3, myogenic type

Criteria Provided
Single Submitter

1 SubmittersRCV005410354

NM_017988.6(SCYL2):c.1215T>A (p.Tyr405Ter)

SNV
Germline

Chr12:100315677

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005631462

NM_001164508.2(NEB):c.10040T>A (p.Leu3347Ter)

SNV
Germline

Chr2:151627626

Likely pathogenic

Arthrogryposis multiplex congenita 6
Nemaline myopathy 2

Criteria Provided
Single Submitter

1 SubmittersRCV006249434

NM_182961.4(SYNE1):c.18403C>T (p.Gln6135Ter)

SNV
Germline

Chr6:152278259

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV006606034