Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_015559.3(SETBP1):c.2612T>C (p.Ile871Thr)	SNV Germline	Chr18:44951952	Pathogenic/Likely pathogenic	Schinzel-Giedion syndrome Condition: not provided Intellectual disability, autosomal dominant 29 Fetal akinesia deformation sequence 1 Arthrogryposis multiplex congenita SETBP1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA114715	rs_267607038	12 SubmittersRCV000001086 RCV000255245 RCV001007919 RCV000855501 RCV004532268
NM_173660.5(DOK7):c.601C>T (p.Arg201Ter)	SNV Germline	Chr4:3485607	Pathogenic	Congenital myasthenic syndrome 10 Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 10 Condition: not provided Fetal akinesia deformation sequence 3 Congenital myasthenic syndrome 10 Fetal akinesia deformation sequence 3	Criteria Provided Multiple Submitters No Conflicts	CA251739	rs_118203995	5 SubmittersRCV000001341 RCV001851535 RCV001781161 RCV004566668 RCV005024984
NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys)	SNV Germline	Chr11:47448079	Pathogenic/Likely pathogenic	Congenital myasthenic syndrome 4C Congenital myasthenic syndrome 11 Condition: not provided Congenital myasthenic syndrome Fetal akinesia deformation sequence 1 Myopathy Congenital myasthenic syndrome 11 Fetal akinesia deformation sequence 1 Inborn genetic diseases Fetal akinesia deformation sequence 2 RAPSN-related disorder Fetal akinesia deformation sequence 2 Congenital myasthenic syndrome 11	Criteria Provided Multiple Submitters No Conflicts	CA199511	rs_104894299	41 SubmittersRCV000008512 RCV000170316 RCV000224062 RCV000235028 RCV000286918 RCV000414829 RCV000477955 RCV002512909 RCV003466838 RCV004732539 RCV005049322
NM_005055.5(RAPSN):c.41T>C (p.Leu14Pro)	SNV Germline	Chr11:47448924	Pathogenic/Likely pathogenic	Congenital myasthenic syndrome 11 Congenital myasthenic syndrome 11 Fetal akinesia deformation sequence 1 Fetal akinesia deformation sequence 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA119252	rs_104894300	4 SubmittersRCV000008513 RCV001851738 RCV003460439 RCV004719634
NM_005055.5(RAPSN):c.-210A>G	SNV Germline	Chr11:47449174	Pathogenic/Likely pathogenic	Congenital myasthenic syndrome 11 Congenital myasthenic syndrome Congenital myasthenic syndrome 11 Fetal akinesia deformation sequence 1 Fetal akinesia deformation sequence 2 Congenital myasthenic syndrome 11 Abnormality of the musculature Fetal akinesia deformation sequence 2	Criteria Provided Multiple Submitters No Conflicts	CA212886	rs_786200905	10 SubmittersRCV000008517 RCV000235034 RCV000664547 RCV001824563 RCV001813966 RCV003460440
NM_005055.5(RAPSN):c.848T>C (p.Leu283Pro)	SNV Germline	Chr11:47441675	Conflicting classifications of pathogenicity	Congenital myasthenic syndrome 11 Condition: not provided Global developmental delay Fetal akinesia deformation sequence 2 RAPSN-related disorder Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 11 Fetal akinesia deformation sequence 1	Criteria Provided Conflicting Classifications	CA119255	rs_104894293	8 SubmittersRCV000008518 RCV000178899 RCV001255415 RCV003460441 RCV001731282 RCV001336781 RCV002512911
NM_005055.5(RAPSN):c.193-15C>A	SNV Germline	Chr11:47448165	Conflicting classifications of pathogenicity	Congenital myasthenic syndrome 11 Congenital myasthenic syndrome 11 Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome	Criteria Provided Conflicting Classifications	CA212887	rs_45547231	3 SubmittersRCV000008519 RCV001851739 RCV004766987
NM_005055.5(RAPSN):c.490C>T (p.Arg164Cys)	SNV Germline	Chr11:47447853	Pathogenic/Likely pathogenic	Congenital myasthenic syndrome 11 Myopathy Congenital myasthenic syndrome 11 Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 11 Fetal akinesia deformation sequence 2 Fetal akinesia deformation sequence 2	Criteria Provided Multiple Submitters No Conflicts	CA119256	rs_104894294	6 SubmittersRCV000008520 RCV000415079 RCV001343279 RCV005049323 RCV003466839
NM_005055.5(RAPSN):c.133G>A (p.Val45Met)	SNV Germline	Chr11:47448832	Pathogenic/Likely pathogenic	Congenital myasthenic syndrome 11 Condition: not provided Congenital myasthenic syndrome Congenital myasthenic syndrome 11 Fetal akinesia deformation sequence 1 Fetal akinesia deformation sequence 2 Congenital myasthenic syndrome 11 Fetal akinesia deformation sequence 2	Criteria Provided Multiple Submitters No Conflicts	CA119257	rs_121909254	10 SubmittersRCV000008521 RCV000992743 RCV001275253 RCV000704275 RCV003460442 RCV002476946
NM_005055.5(RAPSN):c.484G>A (p.Glu162Lys)	SNV Germline	Chr11:47447859	Pathogenic/Likely pathogenic	Congenital myasthenic syndrome 11 Congenital myasthenic syndrome 11 Fetal akinesia deformation sequence 1 Fetal akinesia deformation sequence 2 Congenital myasthenic syndrome 11 Fetal akinesia deformation sequence 2	Criteria Provided Multiple Submitters No Conflicts	CA119258	rs_121909255	4 SubmittersRCV000008522 RCV001231489 RCV003460443 RCV005049324
NM_005592.4(MUSK):c.2368G>A (p.Val790Met)	SNV Germline	Chr9:110800746	Conflicting classifications of pathogenicity	Congenital myasthenic syndrome 9 Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 9 Condition: not provided MUSK-related disorder Fetal akinesia deformation sequence 1	Criteria Provided Conflicting Classifications	CA249734	rs_199476083	8 SubmittersRCV000008722 RCV000701593 RCV000520620 RCV003492289 RCV001329438
NM_005592.4(MUSK):c.1815G>A (p.Met605Ile)	SNV Germline	Chr9:110787726	Conflicting classifications of pathogenicity	Congenital myasthenic syndrome 9 Congenital myasthenic syndrome 9 Fetal akinesia deformation sequence 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA5184484	rs_766640370	3 SubmittersRCV000054417 RCV002513709 RCV004791252
NM_001378183.1(PIEZO2):c.8396G>A (p.Arg2799His)	SNV Germline	Chr18:10671729	Pathogenic	Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome Gordon syndrome Inborn genetic diseases Arthrogryposis multiplex congenita Fetal akinesia deformation sequence 1 Gordon syndrome Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome Condition: not provided Arthrogryposis, distal, with impaired proprioception and touch	Criteria Provided Multiple Submitters No Conflicts	CA090890	rs_587777450	15 SubmittersRCV000224805 RCV000125478 RCV000623552 RCV000855472 RCV003224865 RCV001091982 RCV003147342
NM_000540.3(RYR1):c.9579C>G (p.Cys3193Trp)	SNV Germline	Chr19:38516111	Conflicting classifications of pathogenicity	Condition: not provided Fetal akinesia deformation sequence 1 Arthrogryposis multiplex congenita Central core myopathy RYR1-related disorder Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA024994	rs_587784379	7 SubmittersRCV000147451 RCV000855485 RCV001004921 RCV001036190 RCV003998165
NM_000540.3(RYR1):c.4405C>T (p.Arg1469Trp)	SNV Germline	Chr19:38477821	Conflicting classifications of pathogenicity	Congenital myopathy not specified RYR1-related disorder Condition: not provided Fetal akinesia deformation sequence 1 Arthrogryposis multiplex congenita Congenital myopathy with fiber type disproportion See cases Neuromuscular disease Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome Congenital multicore myopathy with external ophthalmoplegia	Criteria Provided Conflicting Classifications	CA024441	rs_200546266	18 SubmittersRCV000148819 RCV000501380 RCV000534955 RCV000520385 RCV000855482 RCV001198313 RCV004797783 RCV004017422 RCV003998172 RCV004767091 RCV005406848
NM_001999.4(FBN2):c.1064G>A (p.Gly355Asp)	SNV Germline	Chr5:128408688	Likely pathogenic	Fetal akinesia deformation sequence 1 Cerebral ischemia Neonatal death	No Assertion Criteria Provided	CA186065	rs_730882230	1 SubmittersRCV000162150
NM_005592.4(MUSK):c.1724T>C (p.Ile575Thr)	SNV Germline	Chr9:110785664	Pathogenic/Likely pathogenic	Fetal akinesia deformation sequence 1 Bilateral ptosis Delayed gross motor development Respiratory insufficiency Stridor Condition: not provided Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 9	Criteria Provided Multiple Submitters No Conflicts	CA5184434	rs_751889864	6 SubmittersRCV000170588 RCV000414863 RCV001579456 RCV002515221
NM_000335.5(SCN5A):c.5210C>T (p.Ser1737Phe)	SNV Germline	Chr3:38551159	Conflicting classifications of pathogenicity	Condition: not provided Fetal akinesia deformation sequence 1 Arthrogryposis multiplex congenita Cardiac arrhythmia Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA018989	rs_786205271	6 SubmittersRCV000171697 RCV000855502 RCV001842522 RCV005480327
NM_173660.5(DOK7):c.331+9C>T	SNV Germline	Chr4:3473645	Conflicting classifications of pathogenicity	not specified Condition: not provided Congenital myasthenic syndrome 10 Fetal akinesia deformation sequence 1	Criteria Provided Conflicting Classifications	CA243604	rs_370879328	3 SubmittersRCV000243798 RCV000724336 RCV001080683
NM_005055.5(RAPSN):c.737C>T (p.Ala246Val)	SNV Germline	Chr11:47441875	Pathogenic/Likely pathogenic	Condition: not provided Congenital myasthenic syndrome 11 Fetal akinesia deformation sequence 1 Fetal akinesia deformation sequence 2 Fetal akinesia deformation sequence 2 Congenital myasthenic syndrome 11	Criteria Provided Multiple Submitters No Conflicts	CA275256	rs_559933584	5 SubmittersRCV000178236 RCV001313406 RCV003462285 RCV005049458
NM_005592.4(MUSK):c.486G>C (p.Arg162Ser)	SNV Germline	Chr9:110695530	Conflicting classifications of pathogenicity	Condition: not provided Congenital myasthenic syndrome 9 Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 9	Criteria Provided Conflicting Classifications	CA245290	rs_200750233	4 SubmittersRCV000178247 RCV001088756 RCV001168567
NM_005055.5(RAPSN):c.957G>C (p.Val319=)	SNV Germline	Chr11:47441168	Conflicting classifications of pathogenicity	Condition: not provided Congenital myasthenic syndrome 11 Fetal akinesia deformation sequence 1	Criteria Provided Conflicting Classifications	CA246696	rs_794727796	2 SubmittersRCV000179449 RCV001461803
NM_173660.5(DOK7):c.1305C>T (p.Gly435=)	SNV Germline	Chr4:3493291	Conflicting classifications of pathogenicity	Condition: not provided Congenital myasthenic syndrome 10 Fetal akinesia deformation sequence 1	Criteria Provided Conflicting Classifications	CA247380	rs_201894731	2 SubmittersRCV000180008 RCV001852240
NM_173660.5(DOK7):c.1313C>G (p.Thr438Arg)	SNV Germline	Chr4:3493299	Conflicting classifications of pathogenicity	Condition: not provided Congenital myasthenic syndrome 10 Fetal akinesia deformation sequence 1 DOK7-related disorder	Criteria Provided Conflicting Classifications	CA247386	rs_376805794	3 SubmittersRCV000180011 RCV001085069 RCV003977480
NM_173660.5(DOK7):c.918C>T (p.Ala306=)	SNV Germline	Chr4:3492904	Conflicting classifications of pathogenicity	not specified Congenital myasthenic syndrome 10 Fetal akinesia deformation sequence 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA247388	rs_141947707	4 SubmittersRCV000254259 RCV001087618 RCV000724615
NM_173660.5(DOK7):c.1305C>A (p.Gly435=)	SNV Germline	Chr4:3493291	Conflicting classifications of pathogenicity	Condition: not provided Congenital myasthenic syndrome 10 Fetal akinesia deformation sequence 1	Criteria Provided Conflicting Classifications	CA247390	rs_201894731	3 SubmittersRCV000180014 RCV001080819
NM_005592.4(MUSK):c.79+2T>G	SNV Germline	Chr9:110668985	Pathogenic	Congenital myasthenic syndrome 4C Congenital myasthenic syndrome 9 Fetal akinesia deformation sequence 1 Condition: not provided Congenital myasthenic syndrome 9	Criteria Provided Multiple Submitters No Conflicts	CA277140	rs_200783529	4 SubmittersRCV000193437 RCV001064004 RCV002285275 RCV003458197
NM_005592.4(MUSK):c.374G>T (p.Arg125Leu)	SNV Germline	Chr9:110695418	Conflicting classifications of pathogenicity	Congenital myasthenic syndrome 4C Congenital myasthenic syndrome 9 Fetal akinesia deformation sequence 1 Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA276993	rs_375737188	4 SubmittersRCV000192613 RCV000526130 RCV003343688 RCV004794374
NM_005592.4(MUSK):c.308A>G (p.Asn103Ser)	SNV Germline	Chr9:110687218	Pathogenic/Likely pathogenic	Congenital myasthenic syndrome 9 Fetal akinesia deformation sequence 1 Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 9 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA339624	rs_551423795	4 SubmittersRCV000202607 RCV000677721 RCV001853262 RCV003129807
NM_173660.5(DOK7):c.296C>T (p.Ala99Val)	SNV Germline	Chr4:3473601	Conflicting classifications of pathogenicity	not specified Congenital myasthenic syndrome 10 Fetal akinesia deformation sequence 1 Fetal akinesia deformation sequence 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA2828922	rs_138010842	7 SubmittersRCV000252323 RCV000818679 RCV001334668 RCV001509232
NM_005592.4(MUSK):c.666T>C (p.Asn222=)	SNV Germline	Chr9:110734288	Conflicting classifications of pathogenicity	Congenital myasthenic syndrome 9 not specified Congenital myasthenic syndrome 9 Fetal akinesia deformation sequence 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA5184149	rs_56044404	6 SubmittersRCV000309579 RCV000243198 RCV000556195 RCV001535426
NM_005592.4(MUSK):c.1719T>C (p.Asn573=)	SNV Germline	Chr9:110785659	Conflicting classifications of pathogenicity	not specified Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 9 Congenital myasthenic syndrome 9	Criteria Provided Conflicting Classifications	CA5184433	rs_373118888	3 SubmittersRCV000246294 RCV000537953 RCV001166934
NM_005592.4(MUSK):c.1931T>C (p.Val644Ala)	SNV Germline	Chr9:110800309	Conflicting classifications of pathogenicity	not specified Congenital myasthenic syndrome 9 Condition: not provided Congenital myasthenic syndrome 9 Fetal akinesia deformation sequence 1	Criteria Provided Conflicting Classifications	CA5184534	rs_41279055	9 SubmittersRCV000244965 RCV000306389 RCV000513674 RCV001081301
NM_005055.5(RAPSN):c.1041G>A (p.Ala347=)	SNV Germline	Chr11:47438857	Conflicting classifications of pathogenicity	not specified Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 11 Condition: not provided Congenital myasthenic syndrome 11 Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome Fetal akinesia deformation sequence 2	Criteria Provided Conflicting Classifications	CA5976519	rs_149683345	6 SubmittersRCV000246362 RCV000402474 RCV000344045 RCV000873776 RCV001084322 RCV001274401 RCV001578812
NM_005055.5(RAPSN):c.474C>T (p.Asp158=)	SNV Germline	Chr11:47447869	Conflicting classifications of pathogenicity	not specified Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 11 Condition: not provided Congenital myasthenic syndrome Congenital myasthenic syndrome 11 Fetal akinesia deformation sequence 1	Criteria Provided Conflicting Classifications	CA5976738	rs_56245238	8 SubmittersRCV000247109 RCV000355174 RCV000404374 RCV000726774 RCV001275248 RCV001080568
NM_005055.5(RAPSN):c.162G>A (p.Ser54=)	SNV Germline	Chr11:47448803	Conflicting classifications of pathogenicity	not specified Congenital myasthenic syndrome 11 Fetal akinesia deformation sequence 1 Condition: not provided Congenital myasthenic syndrome 11 Fetal akinesia deformation sequence 1	Criteria Provided Conflicting Classifications	CA5976819	rs_72905825	6 SubmittersRCV000246056 RCV000545779 RCV001705366 RCV001105612 RCV001105613
NM_005055.5(RAPSN):c.-199C>G	SNV Germline	Chr11:47449163	Pathogenic/Likely pathogenic	Congenital myasthenic syndrome Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 11 Fetal akinesia deformation sequence 2	Criteria Provided Multiple Submitters No Conflicts	CA10587996	rs_886037842	4 SubmittersRCV000235022 RCV001215451 RCV003469194
NM_018136.5(ASPM):c.3082+1G>C	SNV Germline	Chr1:197125045	Pathogenic/Likely pathogenic	Condition: not provided Fetal akinesia deformation sequence 1 Arthrogryposis multiplex congenita Microcephaly 5, primary, autosomal recessive	Criteria Provided Multiple Submitters No Conflicts	CA10602744	rs_886041709	4 SubmittersRCV000294377 RCV000855492 RCV002503977
NM_005592.4(MUSK):c.665A>G (p.Asn222Ser)	SNV Germline	Chr9:110734287	Conflicting classifications of pathogenicity	not specified Congenital myasthenic syndrome 9 Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 9 MUSK-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA5184148	rs_55826142	7 SubmittersRCV000384112 RCV000653223 RCV001168571 RCV004542984 RCV003311738
NM_173660.5(DOK7):c.1029C>T (p.Gly343=)	SNV Germline	Chr4:3493015	Conflicting classifications of pathogenicity	Condition: not provided Congenital myasthenic syndrome 10 Fetal akinesia deformation sequence 1 DOK7-related disorder	Criteria Provided Conflicting Classifications	CA2829332	rs_375877997	3 SubmittersRCV000292128 RCV001513781 RCV003967696
NM_173660.5(DOK7):c.1278C>T (p.Pro426=)	SNV Germline	Chr4:3493264	Conflicting classifications of pathogenicity	Condition: not provided Congenital myasthenic syndrome 10 Fetal akinesia deformation sequence 1 not specified	Criteria Provided Conflicting Classifications	CA2829444	rs_139468087	4 SubmittersRCV000320886 RCV001081974 RCV001660540
NM_173660.5(DOK7):c.161G>A (p.Arg54His)	SNV Germline	Chr4:3473466	Conflicting classifications of pathogenicity	Condition: not provided Congenital myasthenic syndrome 10 Fetal akinesia deformation sequence 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2828894	rs_201818140	5 SubmittersRCV000329116 RCV001088526 RCV003362744
NM_005055.5(RAPSN):c.1203C>T (p.Asn401=)	SNV Germline	Chr11:47438011	Conflicting classifications of pathogenicity	Condition: not provided Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 11 Congenital myasthenic syndrome RAPSN-related disorder	Criteria Provided Conflicting Classifications	CA10605108	rs_757215612	5 SubmittersRCV000400669 RCV001082882 RCV001275239 RCV004535349
NM_005592.4(MUSK):c.1941C>T (p.Val647=)	SNV Germline	Chr9:110800319	Conflicting classifications of pathogenicity	not specified Congenital myasthenic syndrome 9 Congenital myasthenic syndrome 9 Fetal akinesia deformation sequence 1	Criteria Provided Conflicting Classifications	CA5184536	rs_200312379	3 SubmittersRCV000338006 RCV000347267 RCV000540070
NM_005055.5(RAPSN):c.567G>A (p.Ala189=)	SNV Germline	Chr11:47442779	Conflicting classifications of pathogenicity	Condition: not provided Congenital myasthenic syndrome 11 Fetal akinesia deformation sequence 1	Criteria Provided Conflicting Classifications	CA10605659	rs_886043559	2 SubmittersRCV000280235 RCV001490921
NM_005055.5(RAPSN):c.903G>A (p.Ala301=)	SNV Germline	Chr11:47441620	Conflicting classifications of pathogenicity	Condition: not provided Congenital myasthenic syndrome 11 Fetal akinesia deformation sequence 1 Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome Congenital myasthenic syndrome 11	Criteria Provided Conflicting Classifications	CA5976594	rs_56040810	4 SubmittersRCV000304526 RCV001081237 RCV001106555 RCV001274406 RCV001106554
NM_005592.4(MUSK):c.1291G>A (p.Val431Met)	SNV Germline	Chr9:110775894	Conflicting classifications of pathogenicity	Congenital myasthenic syndrome 9 Inborn genetic diseases Congenital myasthenic syndrome 9 Fetal akinesia deformation sequence 1	Criteria Provided Conflicting Classifications	CA5184320	rs_372013406	3 SubmittersRCV000350489 RCV005372301 RCV002524580
NM_005592.4(MUSK):c.2098G>A (p.Ala700Thr)	SNV Germline	Chr9:110800476	Conflicting classifications of pathogenicity	Congenital myasthenic syndrome 9 Congenital myasthenic syndrome 9 Fetal akinesia deformation sequence 1	Criteria Provided Conflicting Classifications	CA5184570	rs_547450130	3 SubmittersRCV000403675 RCV002061309
NM_005592.4(MUSK):c.780T>C (p.Ser260=)	SNV Germline	Chr9:110747667	Conflicting classifications of pathogenicity	Congenital myasthenic syndrome 9 Congenital myasthenic syndrome 9 Fetal akinesia deformation sequence 1	Criteria Provided Conflicting Classifications	CA10628797	rs_886063353	2 SubmittersRCV000359604 RCV003766096
NM_005055.5(RAPSN):c.690+10C>T	SNV Germline	Chr11:47442646	Conflicting classifications of pathogenicity	Congenital myasthenic syndrome 11 Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome Congenital myasthenic syndrome 11 Fetal akinesia deformation sequence 1	Criteria Provided Conflicting Classifications	CA5976676	rs_78293924	3 SubmittersRCV000946126 RCV001274412 RCV000343403 RCV000392928
NM_005055.5(RAPSN):c.429G>C (p.Leu143=)	SNV Germline	Chr11:47447914	Conflicting classifications of pathogenicity	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 11 Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 11	Criteria Provided Conflicting Classifications	CA10631027	rs_762052702	2 SubmittersRCV000275433 RCV005209502 RCV000328229
NM_005055.5(RAPSN):c.192+12C>T	SNV Germline	Chr11:47448761	Conflicting classifications of pathogenicity	Congenital myasthenic syndrome 11 Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 11 Fetal akinesia deformation sequence 1	Criteria Provided Conflicting Classifications	CA5976812	rs_774654232	2 SubmittersRCV000279556 RCV000350937 RCV002056208
NM_005592.4(MUSK):c.312T>C (p.Gly104=)	SNV Germline	Chr9:110687222	Conflicting classifications of pathogenicity	Congenital Myasthenic Syndrome, Recessive Congenital myasthenic syndrome 9 Fetal akinesia deformation sequence 1 MUSK-related disorder	Criteria Provided Conflicting Classifications	CA5183982	rs_56181115	3 SubmittersRCV000337999 RCV000556773 RCV004530473
NM_005592.4(MUSK):c.1250C>T (p.Thr417Ile)	SNV Germline	Chr9:110775853	Conflicting classifications of pathogenicity	Congenital myasthenic syndrome 9 Congenital myasthenic syndrome 9 Fetal akinesia deformation sequence 1	Criteria Provided Conflicting Classifications	CA5184311	rs_538655454	2 SubmittersRCV000281406 RCV001512370
NM_005592.4(MUSK):c.2393A>G (p.Tyr798Cys)	SNV Germline	Chr9:110800771	Conflicting classifications of pathogenicity	Congenital myasthenic syndrome 9 Condition: not provided Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 9 Fetal akinesia deformation sequence 1	Criteria Provided Conflicting Classifications	CA5184619	rs_188840021	5 SubmittersRCV000304044 RCV000584854 RCV000653236 RCV003147451
NM_005592.4(MUSK):c.206+10C>T	SNV Germline	Chr9:110682810	Conflicting classifications of pathogenicity	Congenital myasthenic syndrome 9 Congenital myasthenic syndrome 9 Fetal akinesia deformation sequence 1	Criteria Provided Conflicting Classifications	CA5183939	rs_371617202	2 SubmittersRCV000376465 RCV000877216
NM_005592.4(MUSK):c.1522G>A (p.Val508Met)	SNV Germline	Chr9:110784952	Conflicting classifications of pathogenicity	Congenital myasthenic syndrome 9 Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 9 Condition: not provided	Criteria Provided Conflicting Classifications	CA5184382	rs_769267043	4 SubmittersRCV000296540 RCV002058765 RCV003129852
NM_005055.5(RAPSN):c.821G>A (p.Ser274Asn)	SNV Germline	Chr11:47441702	Conflicting classifications of pathogenicity	Congenital myasthenic syndrome 11 Fetal akinesia deformation sequence 1 Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 11 Condition: not provided Congenital myasthenic syndrome RAPSN-related disorder	Criteria Provided Conflicting Classifications	CA5976611	rs_140996453	6 SubmittersRCV000261059 RCV000316244 RCV000525112 RCV001531730 RCV001274409 RCV004537718
NM_005055.5(RAPSN):c.691-4G>T	SNV Germline	Chr11:47441925	Conflicting classifications of pathogenicity	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 11 Congenital myasthenic syndrome 11 Fetal akinesia deformation sequence 1	Criteria Provided Conflicting Classifications	CA10638749	rs_886048388	2 SubmittersRCV000328166 RCV000291804 RCV000980196
NM_005055.5(RAPSN):c.928G>A (p.Glu310Lys)	SNV Germline	Chr11:47441197	Conflicting classifications of pathogenicity	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 11 Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 11 Condition: not provided Congenital myasthenic syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5976558	rs_367565995	5 SubmittersRCV000396758 RCV000358965 RCV001223828 RCV003129828 RCV001833442 RCV005470407
NM_005055.5(RAPSN):c.492C>T (p.Arg164=)	SNV Germline	Chr11:47447851	Conflicting classifications of pathogenicity	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 11 Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome Condition: not provided Congenital myasthenic syndrome 11 RAPSN-related disorder	Criteria Provided Conflicting Classifications	CA5976732	rs_146237774	5 SubmittersRCV000297949 RCV000528123 RCV001274414 RCV003133218 RCV000405598 RCV004537719
NM_005055.5(RAPSN):c.412G>A (p.Val138Ile)	SNV Germline	Chr11:47447931	Conflicting classifications of pathogenicity	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 11 Congenital myasthenic syndrome Congenital myasthenic syndrome 11 Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 11 Fetal akinesia deformation sequence 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA5976748	rs_35810986	6 SubmittersRCV000269370 RCV000366609 RCV001276398 RCV000810152 RCV002480112 RCV004693040
NM_005592.4(MUSK):c.2365G>A (p.Gly789Ser)	SNV Germline	Chr9:110800743	Conflicting classifications of pathogenicity	Bilateral ptosis Stridor Respiratory insufficiency Delayed gross motor development Condition: not provided Fetal akinesia deformation sequence 1	Criteria Provided Conflicting Classifications	CA16043436	rs_1057518966	2 SubmittersRCV000415334 RCV003129855 RCV001198407
NM_005055.5(RAPSN):c.271C>T (p.Arg91Cys)	SNV Germline	Chr11:47448072	Likely pathogenic	Condition: not provided Congenital myasthenic syndrome Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 11 Congenital myasthenic syndrome 11 Fetal akinesia deformation sequence 2	Criteria Provided Multiple Submitters No Conflicts	CA5976769	rs_767507908	4 SubmittersRCV000443235 RCV001833532 RCV001861510 RCV005049547
NM_005055.5(RAPSN):c.439G>A (p.Glu147Lys)	SNV Germline	Chr11:47447904	Pathogenic/Likely pathogenic	Condition: not provided RAPSN-related disorder Fetal akinesia deformation sequence 2 Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 11	Criteria Provided Multiple Submitters No Conflicts	CA5976743	rs_560525099	5 SubmittersRCV000432123 RCV001731679 RCV002466497 RCV002519529
NM_000158.4(GBE1):c.1693C>T (p.Arg565Trp)	SNV Germline	Chr3:81537021	Conflicting classifications of pathogenicity	Condition: not provided Arthrogryposis multiplex congenita Fetal akinesia deformation sequence 1 Adult polyglucosan body disease Glycogen storage disease, type IV not specified Glycogen storage disease, type IV Glycogen storage disease IV, classic hepatic	Criteria Provided Conflicting Classifications	CA2499591	rs_552094593	7 SubmittersRCV000487962 RCV000855462 RCV001329659 RCV001829394 RCV003330722 RCV002528222
NM_173660.5(DOK7):c.513C>T (p.Gly171=)	SNV Germline	Chr4:3476523	Pathogenic/Likely pathogenic	Congenital myasthenic syndrome 10 Congenital myasthenic syndrome 10 Fetal akinesia deformation sequence 3 Fetal akinesia deformation sequence 3 Congenital myasthenic syndrome Condition: not provided Congenital myasthenic syndrome 10 Fetal akinesia deformation sequence 1	Criteria Provided Multiple Submitters No Conflicts	CA2829017	rs_775583136	5 SubmittersRCV000679965 RCV005034033 RCV003470614 RCV002282177 RCV000493977 RCV001036855
NM_005592.4(MUSK):c.2291T>C (p.Ile764Thr)	SNV Germline	Chr9:110800669	Conflicting classifications of pathogenicity	Condition: not provided Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 9 Congenital myasthenic syndrome 9	Criteria Provided Conflicting Classifications	CA374479077	rs_1554757211	3 SubmittersRCV000498004 RCV000696818 RCV001329437
NM_173660.5(DOK7):c.331+1G>T	SNV Germline	Chr4:3473637	Pathogenic	Congenital myasthenic syndrome 10 Condition: not provided Fetal akinesia deformation sequence 3 Congenital myasthenic syndrome DOK7-related disorder Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 10	Criteria Provided Multiple Submitters No Conflicts	CA356113804	rs_1349476281	8 SubmittersRCV000001343 RCV000520261 RCV000767366 RCV003479149 RCV003403229 RCV003766941
NM_005592.4(MUSK):c.2408A>G (p.Tyr803Cys)	SNV Germline	Chr9:110800786	Conflicting classifications of pathogenicity	Condition: not provided Congenital myasthenic syndrome 9 Fetal akinesia deformation sequence 1 not specified	Criteria Provided Conflicting Classifications	CA198363795	rs_376837791	3 SubmittersRCV000524008 RCV001858023 RCV005239128
NM_181789.4(GLDN):c.1428C>A (p.Phe476Leu)	SNV Germline	Chr15:51404526	Pathogenic/Likely pathogenic	Condition: not provided Arthrogryposis multiplex congenita Fetal akinesia deformation sequence 1 Lethal congenital contracture syndrome 11	Criteria Provided Multiple Submitters No Conflicts	CA7560758	rs_750803388	3 SubmittersRCV000524042 RCV000855464 RCV004594071
NM_173660.5(DOK7):c.202G>A (p.Gly68Ser)	SNV Germline	Chr4:3473507	Conflicting classifications of pathogenicity	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 10 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2828906	rs_376509451	4 SubmittersRCV000560689 RCV000733471 RCV002528402
NM_173660.5(DOK7):c.1279G>A (p.Gly427Ser)	SNV Germline	Chr4:3493265	Conflicting classifications of pathogenicity	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 10 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2829446	rs_377555406	3 SubmittersRCV000537129 RCV003144335 RCV002526139
NM_173660.5(DOK7):c.1507C>A (p.Pro503Thr)	SNV Germline	Chr4:3493493	Conflicting classifications of pathogenicity	Condition: not provided Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 10 Inborn genetic diseases Congenital myasthenic syndrome 10 Congenital myasthenic syndrome 10 Fetal akinesia deformation sequence 3	Criteria Provided Conflicting Classifications	CA2829557	rs_184556570	7 SubmittersRCV000531626 RCV001086530 RCV004024008 RCV005357588 RCV002491019
NM_173660.5(DOK7):c.163A>G (p.Ser55Gly)	SNV Germline	Chr4:3473468	Conflicting classifications of pathogenicity	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 10 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2828896	rs_550137245	2 SubmittersRCV000535798 RCV004975654
NM_173660.5(DOK7):c.781C>G (p.Arg261Gly)	SNV Germline	Chr4:3492767	Conflicting classifications of pathogenicity	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 10 Condition: not provided	Criteria Provided Conflicting Classifications	CA2829224	rs_142821143	2 SubmittersRCV000541886 RCV003144336
NM_173660.5(DOK7):c.1171G>A (p.Gly391Arg)	SNV Germline	Chr4:3493157	Conflicting classifications of pathogenicity	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 10 Inborn genetic diseases Congenital myasthenic syndrome 10 Condition: not provided	Criteria Provided Conflicting Classifications	CA2829394	rs_144158112	6 SubmittersRCV000545345 RCV002528401 RCV000660547 RCV001532503
NM_173660.5(DOK7):c.1346C>T (p.Thr449Met)	SNV Germline	Chr4:3493332	Conflicting classifications of pathogenicity	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 10 Condition: not provided	Criteria Provided Conflicting Classifications	CA2829476	rs_373864257	2 SubmittersRCV000554715 RCV001662553
NM_005592.4(MUSK):c.481C>T (p.Leu161Phe)	SNV Germline	Chr9:110695525	Conflicting classifications of pathogenicity	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 9 Condition: not provided	Criteria Provided Conflicting Classifications	CA374665252	rs_1311636142	3 SubmittersRCV000550759 RCV003129918
NM_005592.4(MUSK):c.1026G>A (p.Ala342=)	SNV Germline	Chr9:110767925	Conflicting classifications of pathogenicity	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 9 Condition: not provided MUSK-related disorder	Criteria Provided Conflicting Classifications	CA5184263	rs_200434321	3 SubmittersRCV000543050 RCV001785661 RCV004543237
NM_005592.4(MUSK):c.1779-7C>T	SNV Germline	Chr9:110787683	Conflicting classifications of pathogenicity	Congenital myasthenic syndrome 9 Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 9 Condition: not provided	Criteria Provided Conflicting Classifications	CA5184471	rs_114362384	3 SubmittersRCV001168648 RCV001080574 RCV000841942
NM_005592.4(MUSK):c.2443G>T (p.Val815Leu)	SNV Germline	Chr9:110800821	Conflicting classifications of pathogenicity	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 9 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5184629	rs_551520537	2 SubmittersRCV000530016 RCV002526728
NM_005592.4(MUSK):c.1245G>C (p.Glu415Asp)	SNV Germline	Chr9:110775848	Conflicting classifications of pathogenicity	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 9 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5184310	rs_558259191	2 SubmittersRCV000556439 RCV005443102
NM_005592.4(MUSK):c.1863G>A (p.Ala621=)	SNV Germline	Chr9:110787774	Conflicting classifications of pathogenicity	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 9 Congenital myasthenic syndrome 9	Criteria Provided Conflicting Classifications	CA5184491	rs_368049319	2 SubmittersRCV000534296 RCV001168649
NM_005592.4(MUSK):c.300G>A (p.Thr100=)	SNV Germline	Chr9:110687210	Conflicting classifications of pathogenicity	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 9 not specified Congenital myasthenic syndrome 9 Condition: not provided	Criteria Provided Conflicting Classifications	CA5183978	rs_180928221	4 SubmittersRCV000549218 RCV000605686 RCV001166858 RCV004569070
NM_005592.4(MUSK):c.1025C>T (p.Ala342Val)	SNV Germline	Chr9:110767924	Conflicting classifications of pathogenicity	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 9 Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA5184262	rs_375762569	3 SubmittersRCV000555750 RCV002526727 RCV003129917
NM_005055.5(RAPSN):c.776G>A (p.Arg259His)	SNV Germline	Chr11:47441836	Conflicting classifications of pathogenicity	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 11 Congenital myasthenic syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA5976642	rs_766051613	4 SubmittersRCV000553703 RCV001274410 RCV001556490
NM_005055.5(RAPSN):c.640G>A (p.Val214Met)	SNV Germline	Chr11:47442706	Conflicting classifications of pathogenicity	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 11 Fetal akinesia deformation sequence 1 RAPSN-related disorder Inborn genetic diseases Congenital myasthenic syndrome 11	Criteria Provided Conflicting Classifications	CA5976688	rs_201124957	4 SubmittersRCV000548221 RCV001103570 RCV004732944 RCV005470468 RCV001103571
NM_005055.5(RAPSN):c.853C>T (p.Gln285Ter)	SNV Germline	Chr11:47441670	Pathogenic	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 11	Criteria Provided Single Submitter	CA380329271	rs_1555142603	1 SubmittersRCV000542391
NM_005055.5(RAPSN):c.370C>T (p.Gln124Ter)	SNV Germline	Chr11:47447973	Pathogenic/Likely pathogenic	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 11 Fetal akinesia deformation sequence 2 Congenital myasthenic syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA380334223	rs_1479498379	4 SubmittersRCV000534807 RCV003470767 RCV003114675 RCV004719872
NM_005592.4(MUSK):c.2292C>T (p.Ile764=)	SNV Germline	Chr9:110800670	Conflicting classifications of pathogenicity	Condition: not provided Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 9	Criteria Provided Conflicting Classifications	CA466900984	rs_560916681	2 SubmittersRCV000596667 RCV003767356
NM_005055.5(RAPSN):c.272G>T (p.Arg91Leu)	SNV Germline	Chr11:47448071	Conflicting classifications of pathogenicity	Condition: not provided Fetal akinesia deformation sequence 1 Arthrogryposis multiplex congenita Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 11 Fetal akinesia deformation sequence 2	Criteria Provided Conflicting Classifications	CA5976768	rs_375218091	5 SubmittersRCV000591406 RCV000855473 RCV001867917 RCV003465332
NM_004560.4(ROR2):c.808A>G (p.Ile270Val)	SNV Germline	Chr9:91733251	Conflicting classifications of pathogenicity	Condition: not provided Fetal akinesia deformation sequence 1 Arthrogryposis multiplex congenita	Criteria Provided Conflicting Classifications	CA5120886	rs_145631389	4 SubmittersRCV000597894 RCV000855499
NM_173660.5(DOK7):c.82A>C (p.Lys28Gln)	SNV Germline	Chr4:3463533	Conflicting classifications of pathogenicity	Condition: not provided Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 10	Criteria Provided Conflicting Classifications	CA2828855	rs_576215366	2 SubmittersRCV000591680 RCV001394847
NM_005592.4(MUSK):c.2446C>T (p.Arg816Ter)	SNV Germline	Chr9:110800824	Pathogenic/Likely pathogenic	Condition: not provided Congenital myasthenic syndrome 9 Fetal akinesia deformation sequence 1	Criteria Provided Multiple Submitters No Conflicts	CA374479779	rs_1487680236	2 SubmittersRCV000627333 RCV003767843
NM_173660.5(DOK7):c.668G>A (p.Gly223Glu)	SNV Germline	Chr4:3489692	Conflicting classifications of pathogenicity	Congenital myasthenic syndrome 10 Fetal akinesia deformation sequence 1 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2829142	rs_146895834	3 SubmittersRCV000641536 RCV005051809 RCV003372781
NM_173660.5(DOK7):c.1007C>T (p.Ser336Leu)	SNV Germline	Chr4:3492993	Conflicting classifications of pathogenicity	Congenital myasthenic syndrome 10 Fetal akinesia deformation sequence 1 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2829324	rs_377757018	5 SubmittersRCV000641542 RCV000733472 RCV003352962
NM_173660.5(DOK7):c.1406C>A (p.Pro469His)	SNV Germline	Chr4:3493392	Conflicting classifications of pathogenicity	Congenital myasthenic syndrome 10 Fetal akinesia deformation sequence 1 Condition: not provided DOK7-related disorder	Criteria Provided Conflicting Classifications	CA2829507	rs_147185207	3 SubmittersRCV000641549 RCV003144415 RCV004752978
NM_173660.5(DOK7):c.1258C>G (p.Pro420Ala)	SNV Germline	Chr4:3493244	Conflicting classifications of pathogenicity	Congenital myasthenic syndrome 10 Fetal akinesia deformation sequence 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA2829431	rs_150497723	5 SubmittersRCV000641544 RCV000732674
NM_173660.5(DOK7):c.904G>C (p.Ala302Pro)	SNV Germline	Chr4:3492890	Conflicting classifications of pathogenicity	Congenital myasthenic syndrome 10 Fetal akinesia deformation sequence 1 Condition: not provided DOK7-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2829279	rs_79063654	5 SubmittersRCV000641557 RCV001549466 RCV003980242 RCV004025621
NM_005592.4(MUSK):c.2200G>A (p.Gly734Ser)	SNV Germline	Chr9:110800578	Conflicting classifications of pathogenicity	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 9 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5184581	rs_376635652	3 SubmittersRCV000653229 RCV003133467 RCV002532005
NM_005592.4(MUSK):c.2203G>A (p.Glu735Lys)	SNV Germline	Chr9:110800581	Conflicting classifications of pathogenicity	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 9 Condition: not provided Congenital myasthenic syndrome 9	Criteria Provided Conflicting Classifications	CA5184582	rs_138418494	6 SubmittersRCV000653233 RCV000999201 RCV001169415
NM_005592.4(MUSK):c.2357G>A (p.Trp786Ter)	SNV Germline	Chr9:110800735	Likely pathogenic	Fetal akinesia deformation sequence 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA374479434	rs_1554757237	2 SubmittersRCV000677722 RCV001784300
NM_173660.5(DOK7):c.437C>T (p.Pro146Leu)	SNV Germline	Chr4:3476447	Pathogenic/Likely pathogenic	Congenital myasthenic syndrome 10 Fetal akinesia deformation sequence 1 Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome Congenital myasthenic syndrome 10 Fetal akinesia deformation sequence 3	Criteria Provided Multiple Submitters No Conflicts	CA2828996	rs_770987150	3 SubmittersRCV001228448 RCV000679963 RCV005056424 RCV002290973 RCV003465547
NM_173660.5(DOK7):c.481G>A (p.Gly161Arg)	SNV Germline	Chr4:3476491	Conflicting classifications of pathogenicity	Congenital myasthenic syndrome 10 Condition: not provided Congenital myasthenic syndrome 10 Fetal akinesia deformation sequence 1 Fetal akinesia deformation sequence 3 Congenital myasthenic syndrome	Criteria Provided Conflicting Classifications	CA2829010	rs_758131044	6 SubmittersRCV000679964 RCV001784303 RCV000797959 RCV003459654 RCV004579559
NM_173660.5(DOK7):c.514G>A (p.Gly172Arg)	SNV Germline	Chr4:3476524	Pathogenic/Likely pathogenic	Fetal akinesia deformation sequence 1 Condition: not provided Fetal akinesia deformation sequence 3 Congenital myasthenic syndrome Congenital myasthenic syndrome 10 Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 10	Criteria Provided Multiple Submitters No Conflicts	CA2829019	rs_768892432	5 SubmittersRCV000679966 RCV001269756 RCV003459655 RCV004768550 RCV001390615 RCV004760698
NM_173660.5(DOK7):c.1205G>A (p.Arg402Gln)	SNV Germline	Chr4:3493191	Conflicting classifications of pathogenicity	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 10 Condition: not provided	Criteria Provided Conflicting Classifications	CA2829409	rs_370039804	2 SubmittersRCV000697099 RCV003144537
NM_005592.4(MUSK):c.1951A>C (p.Met651Leu)	SNV Germline	Chr9:110800329	Conflicting classifications of pathogenicity	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 9 Condition: not provided	Criteria Provided Conflicting Classifications	CA5184539	rs_199811263	2 SubmittersRCV000691383 RCV003133530
NM_173660.5(DOK7):c.1446G>A (p.Ala482=)	SNV Germline	Chr4:3493432	Conflicting classifications of pathogenicity	Condition: not provided Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 10	Criteria Provided Conflicting Classifications	CA2829526	rs_773592493	2 SubmittersRCV000711501 RCV001316348
NM_004560.4(ROR2):c.1675G>A (p.Gly559Ser)	SNV Germline	Chr9:91724819	Conflicting classifications of pathogenicity	not specified Arthrogryposis multiplex congenita Fetal akinesia deformation sequence 1 Short stature Condition: not provided Brachydactyly type B1 Autosomal recessive Robinow syndrome	Criteria Provided Conflicting Classifications	CA5120613	rs_117134265	7 SubmittersRCV000732649 RCV000855500 RCV001310261 RCV000903196 RCV005047000
NM_173660.5(DOK7):c.957C>G (p.Pro319=)	SNV Germline	Chr4:3492943	Conflicting classifications of pathogenicity	Condition: not provided Congenital myasthenic syndrome 10 Fetal akinesia deformation sequence 1 DOK7-related disorder	Criteria Provided Conflicting Classifications	CA2829304	rs_777573281	3 SubmittersRCV000733469 RCV001855782 RCV003975287
NM_001198800.3(ASCC1):c.626+1G>A	SNV Germline	Chr10:72161537	Pathogenic/Likely pathogenic	Spinal muscular atrophy with congenital bone fractures 2 Fetal akinesia deformation sequence 1 Condition: not provided Arthrogryposis multiplex congenita Fetal akinesia deformation sequence 1	Criteria Provided Multiple Submitters No Conflicts	CA5548982	rs_747595523	8 SubmittersRCV000791458 RCV001004046 RCV001796204 RCV000855457
NM_001378183.1(PIEZO2):c.1384C>T (p.Arg462Ter)	SNV Germline	Chr18:10797517	Pathogenic	Arthrogryposis, distal, with impaired proprioception and touch Arthrogryposis multiplex congenita Fetal akinesia deformation sequence 1	Criteria Provided Single Submitter	CA401925060	rs_1568069621	2 SubmittersRCV000779589 RCV000855470
NM_173660.5(DOK7):c.564G>A (p.Glu188=)	SNV Germline	Chr4:3485570	Conflicting classifications of pathogenicity	Congenital myasthenic syndrome 10 Fetal akinesia deformation sequence 1 See cases	Criteria Provided Conflicting Classifications	CA2829063	rs_375631042	2 SubmittersRCV000810345 RCV002252245
NM_173660.5(DOK7):c.1133C>T (p.Ala378Val)	SNV Germline	Chr4:3493119	Conflicting classifications of pathogenicity	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 10 not specified Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2829373	rs_371846002	4 SubmittersRCV000822754 RCV001731945 RCV001766748 RCV003169039
NM_173660.5(DOK7):c.1168C>T (p.Pro390Ser)	SNV Germline	Chr4:3493154	Conflicting classifications of pathogenicity	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 10 Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA2829391	rs_149525610	3 SubmittersRCV000807008 RCV004028270 RCV003144630
NM_173660.5(DOK7):c.1215T>G (p.Tyr405Ter)	SNV Germline	Chr4:3493201	Likely pathogenic	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 10	Criteria Provided Single Submitter	CA356117569	rs_544278158	1 SubmittersRCV000802260
NM_173660.5(DOK7):c.1352G>A (p.Arg451Gln)	SNV Germline	Chr4:3493338	Conflicting classifications of pathogenicity	Congenital myasthenic syndrome 10 Fetal akinesia deformation sequence 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA2829481	rs_200675356	2 SubmittersRCV000818612 RCV003145197
NM_005592.4(MUSK):c.1057C>A (p.His353Asn)	SNV Germline	Chr9:110767956	Conflicting classifications of pathogenicity	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 9 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5184268	rs_201791900	3 SubmittersRCV000816090 RCV003132089 RCV004949988
NM_005055.5(RAPSN):c.997G>T (p.Glu333Ter)	SNV Germline	Chr11:47438901	Pathogenic	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 11 Congenital myasthenic syndrome Fetal akinesia deformation sequence 2 Fetal akinesia deformation sequence 2 Congenital myasthenic syndrome 11	Criteria Provided Multiple Submitters No Conflicts	CA5976532	rs_201947904	5 SubmittersRCV000822748 RCV001830818 RCV003461280 RCV005049713
NM_005592.4(MUSK):c.486+1G>C	SNV Germline	Chr9:110695531	Likely pathogenic	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 9	Criteria Provided Single Submitter	CA374665276	rs_1204788520	1 SubmittersRCV000814197
NM_005592.4(MUSK):c.754-2A>G	SNV Germline	Chr9:110747639	Likely pathogenic	Congenital myasthenic syndrome 9 Fetal akinesia deformation sequence 1	Criteria Provided Single Submitter	CA374668077	rs_1587986079	1 SubmittersRCV000823163
NM_005055.5(RAPSN):c.872G>A (p.Gly291Asp)	SNV Germline	Chr11:47441651	Conflicting classifications of pathogenicity	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 11 Condition: not provided Fetal akinesia deformation sequence 2 Congenital myasthenic syndrome 11	Criteria Provided Conflicting Classifications	CA5976598	rs_374604570	4 SubmittersRCV000850590 RCV003130080 RCV003467529 RCV002470993
NM_005055.5(RAPSN):c.457G>A (p.Ala153Thr)	SNV Germline	Chr11:47447886	Conflicting classifications of pathogenicity	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 11 Congenital myasthenic syndrome 11 Fetal akinesia deformation sequence 1 not specified Fetal akinesia deformation sequence 2	Criteria Provided Conflicting Classifications	CA5976741	rs_142635726	3 SubmittersRCV000850591 RCV001105501 RCV001105500 RCV003330969 RCV003467530
NM_015378.4(VPS13D):c.4243G>A (p.Asp1415Asn)	SNV Germline	Chr1:12277831	Conflicting classifications of pathogenicity	Fetal akinesia deformation sequence 1 Arthrogryposis multiplex congenita Condition: not provided VPS13D-related disorder	Criteria Provided Conflicting Classifications	CA602099	rs_79282181	4 SubmittersRCV000855522 RCV002064422 RCV003908141
NM_018136.5(ASPM):c.2863C>T (p.Gln955Ter)	SNV Germline	Chr1:197128563	Pathogenic	Fetal akinesia deformation sequence 1 Arthrogryposis multiplex congenita Microcephaly 5, primary, autosomal recessive Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA1310334	rs_774338373	3 SubmittersRCV000855491 RCV003453775 RCV001816923
NM_001100.4(ACTA1):c.739G>A (p.Gly247Arg)	SNV Germline	Chr1:229432063	Pathogenic	Fetal akinesia deformation sequence 1 Arthrogryposis multiplex congenita Actin accumulation myopathy	Criteria Provided Multiple Submitters No Conflicts	CA345146753	rs_1057521117	2 SubmittersRCV000855456 RCV003517274
NM_000751.3(CHRND):c.452G>C (p.Cys151Ser)	SNV Germline	Chr2:232528599	Likely pathogenic	Fetal akinesia deformation sequence 1 Arthrogryposis multiplex congenita	Criteria Provided Single Submitter	CA350998301	rs_1574630583	1 SubmittersRCV000855459
NM_001384125.1(BLTP1):c.3926G>A (p.Arg1309Gln)	SNV Unknown	Chr4:122239608	Likely pathogenic	Fetal akinesia deformation sequence 1 Arthrogryposis multiplex congenita	Criteria Provided Single Submitter	CA358089925	rs_1460624416	1 SubmittersRCV000855516
NM_001384125.1(BLTP1):c.12154T>C (p.Tyr4052His)	SNV Unknown	Chr4:122336233	Likely pathogenic	Fetal akinesia deformation sequence 1 Arthrogryposis multiplex congenita	Criteria Provided Single Submitter	CA3067930	rs_777407076	1 SubmittersRCV000855517
NM_177924.5(ASAH1):c.491G>T (p.Gly164Val)	SNV Germline	Chr8:18063197	Conflicting classifications of pathogenicity	Fetal akinesia deformation sequence 1 Arthrogryposis multiplex congenita Condition: not provided	Criteria Provided Conflicting Classifications	CA370431037	rs_1588980220	2 SubmittersRCV000855490 RCV002536200
NM_177924.5(ASAH1):c.88G>A (p.Asp30Asn)	SNV Germline	Chr8:18075578	Conflicting classifications of pathogenicity	Fetal akinesia deformation sequence 1 Arthrogryposis multiplex congenita Condition: not provided Farber lipogranulomatosis	Criteria Provided Conflicting Classifications	CA4651083	rs_200758704	4 SubmittersRCV000855489 RCV000983934 RCV001164025
NM_005055.5(RAPSN):c.794C>T (p.Ala265Val)	SNV Germline	Chr11:47441729	Conflicting classifications of pathogenicity	Fetal akinesia deformation sequence 1 Arthrogryposis multiplex congenita Fetal akinesia deformation sequence 2	Criteria Provided Conflicting Classifications	CA380329822	rs_1040279711	2 SubmittersRCV000855474 RCV005359606
NM_001330260.2(SCN8A):c.719T>C (p.Ile240Thr)	SNV Germline	Chr12:51699582	Likely pathogenic	Fetal akinesia deformation sequence 1 Arthrogryposis multiplex congenita Developmental and epileptic encephalopathy, 13	Criteria Provided Multiple Submitters No Conflicts	CA385226373	rs_1592387849	2 SubmittersRCV000855503 RCV001775152
NM_052867.4(NALCN):c.1783G>T (p.Val595Phe)	SNV Germline	Chr13:101176356	Likely pathogenic	Fetal akinesia deformation sequence 1 Arthrogryposis multiplex congenita	Criteria Provided Single Submitter	CA388702919	rs_1594368753	1 SubmittersRCV000855468
NM_052867.4(NALCN):c.950T>G (p.Phe317Cys)	SNV Germline	Chr13:101292087	Likely pathogenic	Fetal akinesia deformation sequence 1 Arthrogryposis multiplex congenita	Criteria Provided Single Submitter	CA388704839	rs_1594616249	1 SubmittersRCV000855467
NM_052867.4(NALCN):c.191A>G (p.Tyr64Cys)	SNV Unknown	Chr13:101395283	Likely pathogenic	Fetal akinesia deformation sequence 1 Arthrogryposis multiplex congenita	Criteria Provided Single Submitter	CA7036526	rs_762389271	1 SubmittersRCV000855469
NM_001376.5(DYNC1H1):c.10357G>A (p.Val3453Ile)	SNV Germline	Chr14:102033428	Conflicting classifications of pathogenicity	Fetal akinesia deformation sequence 1 Arthrogryposis multiplex congenita Charcot-Marie-Tooth disease axonal type 2O	Criteria Provided Conflicting Classifications	CA7353397	rs_778115137	2 SubmittersRCV000855520 RCV001366306
NM_001376.5(DYNC1H1):c.12600G>T (p.Gly4200=)	SNV Germline	Chr14:102043961	Conflicting classifications of pathogenicity	Fetal akinesia deformation sequence 1 Arthrogryposis multiplex congenita Charcot-Marie-Tooth disease axonal type 2O	Criteria Provided Conflicting Classifications	CA488186538	rs_1595633027	2 SubmittersRCV000855523 RCV001367404
NM_001083614.2(EARS2):c.814G>A (p.Ala272Thr)	SNV Germline	Chr16:23535032	Conflicting classifications of pathogenicity	Fetal akinesia deformation sequence 1 Arthrogryposis multiplex congenita Condition: not provided Mitochondrial disease	Criteria Provided Conflicting Classifications	CA7962501	rs_749912939	4 SubmittersRCV000855494 RCV001310323 RCV005359607
NM_003632.3(CNTNAP1):c.69C>G (p.Tyr23Ter)	SNV Germline	Chr17:42683822	Pathogenic	Fetal akinesia deformation sequence 1 Arthrogryposis multiplex congenita	Criteria Provided Single Submitter	CA399632041	rs_1597802927	1 SubmittersRCV000855460
NM_003632.3(CNTNAP1):c.1906G>A (p.Val636Met)	SNV Germline	Chr17:42690789	Likely pathogenic	Fetal akinesia deformation sequence 1 Arthrogryposis multiplex congenita	Criteria Provided Single Submitter	CA399642944	rs_1597807901	1 SubmittersRCV000855461
NM_000334.4(SCN4A):c.2018T>C (p.Leu673Pro)	SNV Unknown	Chr17:63959266	Likely pathogenic	Fetal akinesia deformation sequence 1 Arthrogryposis multiplex congenita	Criteria Provided Single Submitter	CA400631560	rs_1597978607	1 SubmittersRCV000855486
NM_001378183.1(PIEZO2):c.911A>G (p.Tyr304Cys)	SNV Unknown	Chr18:10855359	Conflicting classifications of pathogenicity	Fetal akinesia deformation sequence 1 Arthrogryposis multiplex congenita Arthrogryposis, distal, with impaired proprioception and touch	Criteria Provided Conflicting Classifications	CA8892803	rs_773449118	2 SubmittersRCV000855471 RCV003147564
NM_139284.3(LGI4):c.1031T>A (p.Leu344Gln)	SNV Germline	Chr19:35126538	Likely pathogenic	Fetal akinesia deformation sequence 1 Arthrogryposis multiplex congenita	Criteria Provided Single Submitter	CA405305171	rs_1201430967	1 SubmittersRCV000855466
NM_139284.3(LGI4):c.504G>C (p.Trp168Cys)	SNV Germline	Chr19:35131510	Conflicting classifications of pathogenicity	Fetal akinesia deformation sequence 1 Arthrogryposis multiplex congenita Condition: not provided	Criteria Provided Conflicting Classifications	CA9373323	rs_201728190	2 SubmittersRCV000855465 RCV004820124
NM_000540.3(RYR1):c.1835C>A (p.Ala612Asp)	SNV Unknown	Chr19:38457540	Likely pathogenic	Fetal akinesia deformation sequence 1 Arthrogryposis multiplex congenita	Criteria Provided Single Submitter	CA405693870	rs_1600682739	1 SubmittersRCV000855481
NM_000540.3(RYR1):c.2167G>A (p.Gly723Arg)	SNV Unknown	Chr19:38458292	Likely pathogenic	Fetal akinesia deformation sequence 1 Arthrogryposis multiplex congenita	Criteria Provided Single Submitter	CA062941	rs_755496104	1 SubmittersRCV000855475
NM_000540.3(RYR1):c.7298T>C (p.Leu2433Pro)	SNV Germline	Chr19:38499991	Conflicting classifications of pathogenicity	Fetal akinesia deformation sequence 1 Arthrogryposis multiplex congenita Condition: not provided RYR1-related disorder	Criteria Provided Conflicting Classifications	CA405669567	rs_1600822174	3 SubmittersRCV000855484 RCV002275162 RCV003117621
NM_000540.3(RYR1):c.8024C>A (p.Thr2675Lys)	SNV Germline	Chr19:38504317	Likely pathogenic	Fetal akinesia deformation sequence 1 Arthrogryposis multiplex congenita Centronuclear myopathy	Criteria Provided Multiple Submitters No Conflicts	CA405676016	rs_1600843056	2 SubmittersRCV000855478 RCV004586957
NM_000540.3(RYR1):c.10018G>A (p.Val3340Met)	SNV Germline	Chr19:38517691	Conflicting classifications of pathogenicity	Fetal akinesia deformation sequence 1 Arthrogryposis multiplex congenita Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA405693508	rs_1600892115	2 SubmittersRCV000855480 RCV004803279
NM_000540.3(RYR1):c.13998G>A (p.Lys4666=)	SNV Unknown	Chr19:38572270	Likely pathogenic	Fetal akinesia deformation sequence 1 Arthrogryposis multiplex congenita	Criteria Provided Single Submitter	CA507356267	rs_1599649479	1 SubmittersRCV000855483
NM_001001344.3(ATP2B3):c.197C>T (p.Ser66Leu)	SNV Germline	ChrX:153536444	Likely pathogenic	Fetal akinesia deformation sequence 1 Arthrogryposis multiplex congenita	Criteria Provided Single Submitter	CA415073373	rs_1603040061	1 SubmittersRCV000855493
NM_173660.5(DOK7):c.641C>T (p.Pro214Leu)	SNV Germline	Chr4:3485647	Conflicting classifications of pathogenicity	Congenital myasthenic syndrome 10 Fetal akinesia deformation sequence 1 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2829097	rs_147760280	4 SubmittersRCV000876533 RCV001560296 RCV004973126
NM_173660.5(DOK7):c.665C>T (p.Pro222Leu)	SNV Germline	Chr4:3489689	Conflicting classifications of pathogenicity	Condition: not provided Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 10 DOK7-related disorder	Criteria Provided Conflicting Classifications	CA2829140	rs_141141719	4 SubmittersRCV001257176 RCV001412570 RCV003928803
NM_173660.5(DOK7):c.975G>A (p.Arg325=)	SNV Germline	Chr4:3492961	Conflicting classifications of pathogenicity	Congenital myasthenic syndrome 10 Fetal akinesia deformation sequence 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA2829316	rs_370661591	2 SubmittersRCV000874905 RCV003145219
NM_173660.5(DOK7):c.1480G>A (p.Val494Ile)	SNV Germline	Chr4:3493466	Conflicting classifications of pathogenicity	Congenital myasthenic syndrome 10 Fetal akinesia deformation sequence 1 Condition: not provided DOK7-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2829544	rs_202073484	5 SubmittersRCV000873918 RCV001566050 RCV003965763 RCV004027836
NM_005592.4(MUSK):c.549A>G (p.Glu183=)	SNV Germline	Chr9:110697387	Conflicting classifications of pathogenicity	Congenital myasthenic syndrome 9 Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 9 not specified MUSK-related disorder	Criteria Provided Conflicting Classifications	CA5184045	rs_369254308	4 SubmittersRCV001168570 RCV001425565 RCV003396522 RCV004538309
NM_005592.4(MUSK):c.1683G>A (p.Leu561=)	SNV Germline	Chr9:110785623	Conflicting classifications of pathogenicity	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 9 Congenital myasthenic syndrome 9 Condition: not provided	Criteria Provided Conflicting Classifications	CA5184424	rs_192173278	3 SubmittersRCV000876872 RCV001166933 RCV003432851
NM_005055.5(RAPSN):c.1190G>A (p.Arg397Gln)	SNV Germline	Chr11:47438024	Conflicting classifications of pathogenicity	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 11 Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 11 Congenital myasthenic syndrome Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5976454	rs_139398367	6 SubmittersRCV000950989 RCV001103493 RCV001103494 RCV001274399 RCV001772173 RCV002546024
NM_005055.5(RAPSN):c.61C>T (p.Gln21Ter)	SNV Germline	Chr11:47448904	Pathogenic/Likely pathogenic	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 11 Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome Fetal akinesia deformation sequence 2	Criteria Provided Multiple Submitters No Conflicts	CA380337032	rs_1595903667	4 SubmittersRCV000988562 RCV001225209 RCV001836056 RCV003467548
NM_181789.4(GLDN):c.1093C>T (p.Leu365Phe)	SNV Germline	Chr15:51401658	Likely pathogenic	Fetal akinesia deformation sequence 1	No Assertion Criteria Provided	CA7560672	rs_376573993	1 SubmittersRCV001842583
NM_173660.5(DOK7):c.193C>T (p.Leu65=)	SNV Germline	Chr4:3473498	Conflicting classifications of pathogenicity	Fetal akinesia deformation sequence 3 Congenital myasthenic syndrome 10 Congenital myasthenic syndrome 10 Fetal akinesia deformation sequence 1	Criteria Provided Conflicting Classifications	CA2828904	rs_546630800	2 SubmittersRCV002480442 RCV001071236
NM_173660.5(DOK7):c.457A>T (p.Lys153Ter)	SNV Germline	Chr4:3476467	Pathogenic	Congenital myasthenic syndrome 10 Fetal akinesia deformation sequence 1	Criteria Provided Single Submitter	CA356114371	rs_1727096342	1 SubmittersRCV001058195
NM_173660.5(DOK7):c.956C>A (p.Pro319His)	SNV Germline	Chr4:3492942	Conflicting classifications of pathogenicity	Congenital myasthenic syndrome 10 Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 10 Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA2829300	rs_376334067	5 SubmittersRCV001044290 RCV002227506 RCV002552548 RCV005056822
NM_005592.4(MUSK):c.496C>T (p.Arg166Ter)	SNV Germline	Chr9:110697334	Pathogenic	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 9	Criteria Provided Single Submitter	CA5184037	rs_763656507	1 SubmittersRCV001053740
NM_005592.4(MUSK):c.1862C>T (p.Ala621Val)	SNV Germline	Chr9:110787773	Conflicting classifications of pathogenicity	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 9 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5184490	rs_777853943	2 SubmittersRCV001054930 RCV004031737
NM_005592.4(MUSK):c.2165T>C (p.Val722Ala)	SNV Germline	Chr9:110800543	Pathogenic	Congenital myasthenic syndrome 9 Fetal akinesia deformation sequence 1	Criteria Provided Single Submitter	CA374478388	rs_1238400476	1 SubmittersRCV001064003
NM_005592.4(MUSK):c.2461C>T (p.Leu821Phe)	SNV Germline	Chr9:110800839	Conflicting classifications of pathogenicity	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 9 Condition: not provided	Criteria Provided Conflicting Classifications	CA374479832	rs_2078085499	2 SubmittersRCV001044287 RCV003132163
NM_005055.5(RAPSN):c.997G>C (p.Glu333Gln)	SNV Germline	Chr11:47438901	Conflicting classifications of pathogenicity	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 11 Congenital myasthenic syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA5976531	rs_201947904	3 SubmittersRCV001054429 RCV001275243 RCV003132181
NM_005055.5(RAPSN):c.493G>A (p.Val165Met)	SNV Germline	Chr11:47447850	Pathogenic/Likely pathogenic	Congenital myasthenic syndrome 11 Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome Condition: not provided Fetal akinesia deformation sequence 2 Congenital myasthenic syndrome 11 Fetal akinesia deformation sequence 2	Criteria Provided Multiple Submitters No Conflicts	CA5976731	rs_761584017	8 SubmittersRCV001061762 RCV001832551 RCV001508667 RCV003462591 RCV005049755
NM_005055.5(RAPSN):c.425C>A (p.Ala142Asp)	SNV Germline	Chr11:47447918	Pathogenic/Likely pathogenic	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 11 Condition: not provided Fetal akinesia deformation sequence 2 Fetal akinesia deformation sequence 2 Congenital myasthenic syndrome 11 Congenital myasthenic syndrome	Criteria Provided Multiple Submitters No Conflicts	CA5976746	rs_368695664	6 SubmittersRCV001066055 RCV001559969 RCV003467832 RCV005049757 RCV005432564
NM_173660.5(DOK7):c.773-2A>C	SNV Germline	Chr4:3492757	Likely pathogenic	Congenital myasthenic syndrome 10 Fetal akinesia deformation sequence 1	Criteria Provided Single Submitter	CA356115883	rs_1229979805	1 SubmittersRCV001058583
NM_173660.5(DOK7):c.773-1G>A	SNV Germline	Chr4:3492758	Likely pathogenic	Congenital myasthenic syndrome 10 Fetal akinesia deformation sequence 1	Criteria Provided Single Submitter	CA356115884	rs_1268475752	1 SubmittersRCV001041551
NM_005592.4(MUSK):c.1277T>C (p.Met426Thr)	SNV Germline	Chr9:110775880	Conflicting classifications of pathogenicity	Condition: not provided Congenital myasthenic syndrome 9 Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 9	Criteria Provided Conflicting Classifications	CA5184317	rs_368044285	3 SubmittersRCV001093097 RCV001166930 RCV002069614
NM_005055.5(RAPSN):c.1212C>T (p.Arg404=)	SNV Germline	Chr11:47438002	Conflicting classifications of pathogenicity	Congenital myasthenic syndrome 11 Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 11 Fetal akinesia deformation sequence 1	Criteria Provided Conflicting Classifications	CA474217213	rs_2076326463	2 SubmittersRCV001103492 RCV001103491 RCV001414396
NM_005055.5(RAPSN):c.457G>T (p.Ala153Ser)	SNV Germline	Chr11:47447886	Conflicting classifications of pathogenicity	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 11 Congenital myasthenic syndrome 11 Fetal akinesia deformation sequence 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA5976740	rs_142635726	3 SubmittersRCV001105499 RCV001105498 RCV002558054 RCV003142048
NM_005055.5(RAPSN):c.364G>A (p.Gly122Arg)	SNV Germline	Chr11:47447979	Conflicting classifications of pathogenicity	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 11 Congenital myasthenic syndrome Congenital myasthenic syndrome 11 Fetal akinesia deformation sequence 2 Congenital myasthenic syndrome 11 Fetal akinesia deformation sequence 1 Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA5976756	rs_150756111	6 SubmittersRCV001106664 RCV001106665 RCV001279260 RCV002505680 RCV002556089 RCV002556090 RCV003490075
NM_005055.5(RAPSN):c.912+9G>T	SNV Germline	Chr11:47441602	Conflicting classifications of pathogenicity	Congenital myasthenic syndrome 11 Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 11 Fetal akinesia deformation sequence 1	Criteria Provided Conflicting Classifications	CA1139661958	rs_751790521	2 SubmittersRCV001106551 RCV001106550 RCV003769096
NM_005055.5(RAPSN):c.912+9G>A	SNV Germline	Chr11:47441602	Conflicting classifications of pathogenicity	Congenital myasthenic syndrome 11 Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 11 Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome RAPSN-related disorder	Criteria Provided Conflicting Classifications	CA5976590	rs_751790521	4 SubmittersRCV001106553 RCV001106552 RCV001243852 RCV001833706 RCV004538329
NM_005592.4(MUSK):c.1446C>G (p.Ser482=)	SNV Germline	Chr9:110784876	Conflicting classifications of pathogenicity	Congenital myasthenic syndrome 9 Congenital myasthenic syndrome 9 Fetal akinesia deformation sequence 1	Criteria Provided Conflicting Classifications	CA466686042	rs_754903785	2 SubmittersRCV001166932 RCV003769809
NM_005592.4(MUSK):c.486+15T>C	SNV Germline	Chr9:110695545	Conflicting classifications of pathogenicity	Congenital myasthenic syndrome 9 Congenital myasthenic syndrome 9 Fetal akinesia deformation sequence 1	Criteria Provided Conflicting Classifications	CA5184019	rs_369902312	2 SubmittersRCV001168568 RCV002557451
NM_005592.4(MUSK):c.913+10C>G	SNV Germline	Chr9:110747810	Conflicting classifications of pathogenicity	Congenital myasthenic syndrome 9 Congenital myasthenic syndrome 9 Fetal akinesia deformation sequence 1	Criteria Provided Conflicting Classifications	CA5184205	rs_761707078	2 SubmittersRCV001169339 RCV002068038
NM_005592.4(MUSK):c.914-14T>G	SNV Germline	Chr9:110762188	Conflicting classifications of pathogenicity	Congenital myasthenic syndrome 9 Congenital myasthenic syndrome 9 Fetal akinesia deformation sequence 1	Criteria Provided Conflicting Classifications	CA5184225	rs_146206123	2 SubmittersRCV001169340 RCV002067836
NM_173660.5(DOK7):c.230C>T (p.Thr77Met)	SNV Germline	Chr4:3473535	Conflicting classifications of pathogenicity	Congenital myasthenic syndrome 10 Fetal akinesia deformation sequence 1 DOK7-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA91528915	rs_940346413	4 SubmittersRCV001223702 RCV004753240 RCV003236878
NM_173660.5(DOK7):c.480C>A (p.Tyr160Ter)	SNV Germline	Chr4:3476490	Pathogenic	Congenital myasthenic syndrome 10 Fetal akinesia deformation sequence 1 Condition: not provided Fetal akinesia deformation sequence 3 DOK7-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA356114414	rs_550024569	4 SubmittersRCV001222325 RCV001780148 RCV003462755 RCV004753239
NM_173660.5(DOK7):c.839G>A (p.Arg280Gln)	SNV Germline	Chr4:3492825	Conflicting classifications of pathogenicity	Inborn genetic diseases Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 10	Criteria Provided Conflicting Classifications	CA2829246	rs_144269117	2 SubmittersRCV004619563 RCV001221305
NM_005592.4(MUSK):c.1735A>T (p.Arg579Ter)	SNV Germline	Chr9:110785675	Pathogenic	Congenital myasthenic syndrome 9 Fetal akinesia deformation sequence 1	Criteria Provided Single Submitter	CA5184437	rs_752798426	1 SubmittersRCV001218791
NM_005055.5(RAPSN):c.1065C>A (p.Cys355Ter)	SNV Germline	Chr11:47438833	Pathogenic	Congenital myasthenic syndrome 11 Fetal akinesia deformation sequence 1	Criteria Provided Single Submitter	CA380327642	rs_763094966	1 SubmittersRCV001219154
NM_173660.5(DOK7):c.415G>C (p.Val139Leu)	SNV Germline	Chr4:3476425	Likely pathogenic	Congenital myasthenic syndrome 10 Fetal akinesia deformation sequence 1 Fetal akinesia deformation sequence 3 Congenital myasthenic syndrome	Criteria Provided Multiple Submitters No Conflicts	CA356114281	rs_571769859	3 SubmittersRCV001213559 RCV003469358 RCV005057105
NM_173660.5(DOK7):c.496G>A (p.Gly166Arg)	SNV Germline	Chr4:3476506	Conflicting classifications of pathogenicity	Congenital myasthenic syndrome 10 Fetal akinesia deformation sequence 1 Fetal akinesia deformation sequence 3 not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA2829014	rs_781227659	4 SubmittersRCV001212330 RCV003469353 RCV004690017 RCV005411677
NM_005055.5(RAPSN):c.358C>T (p.Gln120Ter)	SNV Germline	Chr11:47447985	Pathogenic	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 11	Criteria Provided Single Submitter	CA380334282	rs_2076422949	1 SubmittersRCV001209146
NM_173660.5(DOK7):c.1318G>A (p.Ala440Thr)	SNV Germline	Chr4:3493304	Conflicting classifications of pathogenicity	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 10 Condition: not provided Congenital myasthenic syndrome 10 Fetal akinesia deformation sequence 3	Criteria Provided Conflicting Classifications	CA2829462	rs_753026831	3 SubmittersRCV001246102 RCV003145485 RCV004727043
NM_173660.5(DOK7):c.313C>T (p.Arg105Cys)	SNV Germline	Chr4:3473618	Conflicting classifications of pathogenicity	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 10 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2828927	rs_115883468	2 SubmittersRCV001325188 RCV002546126
NM_173660.5(DOK7):c.652+5G>A	SNV Germline	Chr4:3485663	Conflicting classifications of pathogenicity	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 10 Condition: not provided	Criteria Provided Conflicting Classifications	CA2829104	rs_772918388	2 SubmittersRCV001324458 RCV002509662
NM_005592.4(MUSK):c.397A>G (p.Ile133Val)	SNV Germline	Chr9:110695441	Conflicting classifications of pathogenicity	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 9 Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA5184006	rs_570136508	3 SubmittersRCV001314135 RCV002543637 RCV003132398
NM_173660.5(DOK7):c.752C>A (p.Ala251Glu)	SNV Germline	Chr4:3489776	Conflicting classifications of pathogenicity	Congenital myasthenic syndrome 10 Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 10 Inborn genetic diseases DOK7-related disorder	Criteria Provided Conflicting Classifications	CA2829168	rs_376251309	4 SubmittersRCV001328763 RCV001360948 RCV002546275 RCV004753286
NM_005592.4(MUSK):c.79+11G>A	SNV Germline	Chr9:110668994	Conflicting classifications of pathogenicity	Fetal akinesia deformation sequence 1 Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 9	Criteria Provided Conflicting Classifications	CA5183903	rs_139516442	2 SubmittersRCV001335300 RCV002070199
NM_173660.5(DOK7):c.919G>C (p.Ala307Pro)	SNV Germline	Chr4:3492905	Conflicting classifications of pathogenicity	Congenital myasthenic syndrome 10 Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 10 Fetal akinesia deformation sequence 3 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA356116347	rs_150415034	3 SubmittersRCV001352321 RCV001824956 RCV005330744
NM_173660.5(DOK7):c.1503C>A (p.Asn501Lys)	SNV Germline	Chr4:3493489	Conflicting classifications of pathogenicity	Congenital myasthenic syndrome 10 Fetal akinesia deformation sequence 1 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2829553	rs_750262940	3 SubmittersRCV001351240 RCV003145607 RCV003169743
NM_173660.5(DOK7):c.332-1G>T	SNV Germline	Chr4:3476341	Likely pathogenic	Congenital myasthenic syndrome 10 Fetal akinesia deformation sequence 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA356114065	rs_1490214819	2 SubmittersRCV001376831 RCV004793470
NM_005055.5(RAPSN):c.531+1G>T	SNV Germline	Chr11:47447811	Pathogenic/Likely pathogenic	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 11 Congenital myasthenic syndrome Congenital myasthenic syndrome 11 Fetal akinesia deformation sequence 2 Congenital myasthenic syndrome 11 Fetal akinesia deformation sequence 2	Criteria Provided Multiple Submitters No Conflicts	CA380333475	rs_1421354085	5 SubmittersRCV001379323 RCV001826152 RCV001563594 RCV003462961 RCV005050365
NM_173660.5(DOK7):c.1267C>T (p.Gln423Ter)	SNV Germline	Chr4:3493253	Pathogenic/Likely pathogenic	Congenital myasthenic syndrome 10 Fetal akinesia deformation sequence 1 Fetal akinesia deformation sequence 3	Criteria Provided Multiple Submitters No Conflicts	CA356117660	rs_1728650830	2 SubmittersRCV001387589 RCV003469734
NM_173660.5(DOK7):c.1387G>T (p.Glu463Ter)	SNV Germline	Chr4:3493373	Pathogenic	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 10	Criteria Provided Single Submitter	CA356117874	rs_745941308	1 SubmittersRCV001381053
NM_005055.5(RAPSN):c.838G>T (p.Gly280Ter)	SNV Germline	Chr11:47441685	Pathogenic	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 11	Criteria Provided Single Submitter	CA380329470	rs_1262674788	1 SubmittersRCV001390845
NM_005055.5(RAPSN):c.599G>A (p.Trp200Ter)	SNV Germline	Chr11:47442747	Pathogenic/Likely pathogenic	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 11 Fetal akinesia deformation sequence 2	Criteria Provided Multiple Submitters No Conflicts	CA380332256	rs_1595899478	2 SubmittersRCV001385002 RCV003463001
NM_005055.5(RAPSN):c.418C>T (p.Gln140Ter)	SNV Germline	Chr11:47447925	Pathogenic/Likely pathogenic	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 11 Fetal akinesia deformation sequence 2	Criteria Provided Multiple Submitters No Conflicts	CA380334025	rs_2153311231	2 SubmittersRCV001382472 RCV003469677
NM_005055.5(RAPSN):c.291C>A (p.Cys97Ter)	SNV Germline	Chr11:47448052	Pathogenic	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 11 Congenital myasthenic syndrome 11 Fetal akinesia deformation sequence 2 Condition: not provided Congenital myasthenic syndrome	Criteria Provided Multiple Submitters No Conflicts	CA221722215	rs_749287203	5 SubmittersRCV001387007 RCV005050369 RCV001780357 RCV001826172
NM_173660.5(DOK7):c.816C>G (p.His272Gln)	SNV Germline	Chr4:3492802	Conflicting classifications of pathogenicity	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 10 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2829236	rs_115614731	3 SubmittersRCV001484179 RCV001751773 RCV005330868
NM_005055.5(RAPSN):c.679G>T (p.Glu227Ter)	SNV Germline	Chr11:47442667	Pathogenic/Likely pathogenic	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 11 Fetal akinesia deformation sequence 2 Congenital myasthenic syndrome 11 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA380331566	rs_2153309050	3 SubmittersRCV001868867 RCV005050409 RCV001783664
NM_005055.5(RAPSN):c.272G>C (p.Arg91Pro)	SNV Germline	Chr11:47448071	Likely pathogenic	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 11	Criteria Provided Single Submitter	CA380334774	rs_375218091	1 SubmittersRCV002034290
NM_005592.4(MUSK):c.2170C>T (p.Arg724Ter)	SNV Germline	Chr9:110800548	Pathogenic	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 9	Criteria Provided Single Submitter	CA374478415	rs_1255531873	1 SubmittersRCV001994540
NM_005055.5(RAPSN):c.318C>A (p.Cys106Ter)	SNV Germline	Chr11:47448025	Pathogenic	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 11	Criteria Provided Single Submitter	CA380334470	rs_2076423585	1 SubmittersRCV001929616
NM_005055.5(RAPSN):c.490C>G (p.Arg164Gly)	SNV Germline	Chr11:47447853	Pathogenic/Likely pathogenic	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 11 Congenital myasthenic syndrome	Criteria Provided Multiple Submitters No Conflicts	CA380333737	rs_104894294	2 SubmittersRCV001938528 RCV004801090
NM_005055.5(RAPSN):c.712C>T (p.Gln238Ter)	SNV Germline	Chr11:47441900	Pathogenic	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 11 Fetal akinesia deformation sequence 2	Criteria Provided Multiple Submitters No Conflicts	CA380330446	rs_2076368388	2 SubmittersRCV001923478 RCV003464238
NM_173660.5(DOK7):c.773-2A>T	SNV Germline	Chr4:3492757	Likely pathogenic	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 10	Criteria Provided Single Submitter	CA356115881	rs_1229979805	1 SubmittersRCV001893087
NM_005592.4(MUSK):c.1744G>A (p.Gly582Arg)	SNV Germline	Chr9:110785684	Conflicting classifications of pathogenicity	Congenital myasthenic syndrome 9 Fetal akinesia deformation sequence 1 Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA5184439	rs_202126269	4 SubmittersRCV002012049 RCV003130632 RCV004587265
NM_005055.5(RAPSN):c.272G>A (p.Arg91His)	SNV Germline	Chr11:47448071	Likely pathogenic	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 11	Criteria Provided Single Submitter	CA5976767	rs_375218091	1 SubmittersRCV001892251
NM_173660.5(DOK7):c.299G>A (p.Trp100Ter)	SNV Germline	Chr4:3473604	Pathogenic	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 10	Criteria Provided Single Submitter	CA356113696	rs_2109336441	1 SubmittersRCV002000087
NM_005055.5(RAPSN):c.872G>C (p.Gly291Ala)	SNV Germline	Chr11:47441651	Likely pathogenic	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 11	Criteria Provided Single Submitter	CA380329137	rs_374604570	1 SubmittersRCV002018846
NM_173660.5(DOK7):c.332-1G>A	SNV Germline	Chr4:3476341	Likely pathogenic	Congenital myasthenic syndrome 10 Fetal akinesia deformation sequence 1 Fetal akinesia deformation sequence 3	Criteria Provided Multiple Submitters No Conflicts	CA356114061	rs_1490214819	2 SubmittersRCV002037309 RCV003464158
NM_173660.5(DOK7):c.396C>G (p.His132Gln)	SNV Germline	Chr4:3476406	Likely pathogenic	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 10	Criteria Provided Single Submitter	CA356114241	rs_779798129	1 SubmittersRCV001929294
NM_005055.5(RAPSN):c.537C>A (p.Tyr179Ter)	SNV Germline	Chr11:47442809	Pathogenic	Congenital myasthenic syndrome 11 Fetal akinesia deformation sequence 1	Criteria Provided Single Submitter	CA380332505	rs_1015604630	1 SubmittersRCV001899155
NM_173660.5(DOK7):c.436C>T (p.Pro146Ser)	SNV Germline	Chr4:3476446	Likely pathogenic	Congenital myasthenic syndrome 10 Fetal akinesia deformation sequence 1	Criteria Provided Single Submitter	CA356114329	rs_1727094027	1 SubmittersRCV002030635
NM_173660.5(DOK7):c.1327C>T (p.Pro443Ser)	SNV Germline	Chr4:3493313	Conflicting classifications of pathogenicity	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 10 Congenital myasthenic syndrome 10 Fetal akinesia deformation sequence 3	Criteria Provided Conflicting Classifications	CA91557425	rs_748946433	2 SubmittersRCV002042295 RCV004728856
NM_005055.5(RAPSN):c.7C>T (p.Gln3Ter)	SNV Germline	Chr11:47448958	Pathogenic	Congenital myasthenic syndrome 11 Fetal akinesia deformation sequence 1	Criteria Provided Single Submitter	CA380337433	rs_2076433607	1 SubmittersRCV001909290
NM_005592.4(MUSK):c.1778+1G>T	SNV Germline	Chr9:110785719	Likely pathogenic	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 9	Criteria Provided Single Submitter	CA374476013	rs_2132026515	1 SubmittersRCV002021473
NM_005592.4(MUSK):c.112G>T (p.Asp38Tyr)	SNV Germline	Chr9:110682706	Likely pathogenic	Fetal akinesia deformation sequence 1	Criteria Provided Single Submitter	CA374669811	rs_1412657094	1 SubmittersRCV002269798
NM_173660.5(DOK7):c.414C>T (p.Leu138=)	SNV Germline	Chr4:3476424	Likely pathogenic	Condition: not provided Fetal akinesia deformation sequence 3 Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 10 Congenital myasthenic syndrome	Criteria Provided Multiple Submitters No Conflicts	CA2828993	rs_771995943	4 SubmittersRCV002281329 RCV003471305 RCV003774920 RCV003331339
NM_005055.5(RAPSN):c.280G>A (p.Glu94Lys)	SNV Germline	Chr11:47448063	Conflicting classifications of pathogenicity	not specified Congenital myasthenic syndrome 11 Fetal akinesia deformation sequence 1 Condition: not provided RAPSN-related disorder Fetal akinesia deformation sequence 2	Criteria Provided Conflicting Classifications	CA5976766	rs_200550567	6 SubmittersRCV002281800 RCV003101625 RCV003134420 RCV003336519 RCV003464433
NM_005592.4(MUSK):c.2358G>A (p.Trp786Ter)	SNV Germline	Chr9:110800736	Pathogenic	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 9	Criteria Provided Single Submitter	CA374479440	rs_867146882	1 SubmittersRCV003066491
NM_005055.5(RAPSN):c.973C>T (p.Gln325Ter)	SNV Germline	Chr11:47438925	Pathogenic	Congenital myasthenic syndrome 11 Fetal akinesia deformation sequence 1	Criteria Provided Single Submitter	CA380327912	rs_1217462358	1 SubmittersRCV003062376
NM_005055.5(RAPSN):c.1166+2T>G	SNV Germline	Chr11:47438730	Pathogenic	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 11	Criteria Provided Single Submitter	CA221713977	rs_748561503	1 SubmittersRCV003091624
NM_005055.5(RAPSN):c.1166+1G>C	SNV Germline	Chr11:47438731	Pathogenic	Congenital myasthenic syndrome 11 Fetal akinesia deformation sequence 1	Criteria Provided Single Submitter	CA380326993	rs_1325133502	1 SubmittersRCV003079119
NM_005055.5(RAPSN):c.133G>T (p.Val45Leu)	SNV Germline	Chr11:47448832	Likely pathogenic	Congenital myasthenic syndrome 11 Fetal akinesia deformation sequence 1	Criteria Provided Single Submitter	CA221723367	rs_121909254	1 SubmittersRCV002579002
NM_005055.5(RAPSN):c.3G>T (p.Met1Ile)	SNV Germline	Chr11:47448962	Pathogenic	Congenital myasthenic syndrome 11 Fetal akinesia deformation sequence 1	Criteria Provided Single Submitter	CA380337460	rs_2496138843	1 SubmittersRCV003090311
NM_173660.5(DOK7):c.1285A>G (p.Ser429Gly)	SNV Germline	Chr4:3493271	Conflicting classifications of pathogenicity	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 10 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA356117694	rs_1166517627	2 SubmittersRCV002588629 RCV005333516
NM_005055.5(RAPSN):c.1166+1G>T	SNV Germline	Chr11:47438731	Pathogenic	Congenital myasthenic syndrome 11 Fetal akinesia deformation sequence 1	Criteria Provided Single Submitter	CA380326991	rs_1325133502	1 SubmittersRCV003121739
NM_005592.4(MUSK):c.920+1G>A	SNV Germline	Chr9:110762209	Likely pathogenic	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 9	Criteria Provided Single Submitter	CA374466990	rs_1220602405	1 SubmittersRCV003104206
NM_173660.5(DOK7):c.473G>A (p.Arg158Gln)	SNV Germline	Chr4:3476483	Pathogenic	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 10	Criteria Provided Single Submitter	CA2829007	rs_754633490	1 SubmittersRCV002671810
NM_005592.4(MUSK):c.1184+2T>C	SNV Germline	Chr9:110768085	Likely pathogenic	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 9	Criteria Provided Single Submitter	CA5184283	rs_532285449	1 SubmittersRCV002745770
NM_173660.5(DOK7):c.873A>G (p.Ser291=)	SNV Germline	Chr4:3492859	Conflicting classifications of pathogenicity	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 10 Condition: not provided	Criteria Provided Conflicting Classifications	CA438362577	rs_768322699	2 SubmittersRCV002776484 RCV003146640
NM_005055.5(RAPSN):c.22C>T (p.Gln8Ter)	SNV Germline	Chr11:47448943	Pathogenic	Congenital myasthenic syndrome 11 Fetal akinesia deformation sequence 1	Criteria Provided Single Submitter	CA380337332	rs_11556408	1 SubmittersRCV002792011
NM_005055.5(RAPSN):c.1A>G (p.Met1Val)	SNV Germline	Chr11:47448964	Pathogenic	Congenital myasthenic syndrome 11 Fetal akinesia deformation sequence 1	Criteria Provided Single Submitter	CA380337470	rs_2496138853	1 SubmittersRCV002810112
NM_005592.4(MUSK):c.1466C>G (p.Ser489Ter)	SNV Germline	Chr9:110784896	Pathogenic	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 9	Criteria Provided Single Submitter	CA374474971	rs_2491146787	1 SubmittersRCV002880647
NM_173660.5(DOK7):c.379G>A (p.Gly127Ser)	SNV Germline	Chr4:3476389	Conflicting classifications of pathogenicity	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 10 Fetal akinesia deformation sequence 3 Congenital myasthenic syndrome Congenital myasthenic syndrome 10	Criteria Provided Conflicting Classifications	CA2828984	rs_763494431	4 SubmittersRCV002876544 RCV004571404 RCV004765582 RCV005409895
NM_173660.5(DOK7):c.1262C>G (p.Pro421Arg)	SNV Germline	Chr4:3493248	Conflicting classifications of pathogenicity	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 10 Condition: not provided	Criteria Provided Conflicting Classifications	CA2829435	rs_373261147	2 SubmittersRCV002923128 RCV004790283
NM_005055.5(RAPSN):c.724C>T (p.Arg242Trp)	SNV Germline	Chr11:47441888	Conflicting classifications of pathogenicity	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 11 Fetal akinesia deformation sequence 2	Criteria Provided Conflicting Classifications	CA221716778	rs_1005550058	2 SubmittersRCV002923133 RCV003464639
NM_005592.4(MUSK):c.1555C>T (p.Arg519Ter)	SNV Germline	Chr9:110784985	Pathogenic	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 9	Criteria Provided Single Submitter	CA374475403	rs_2491147739	1 SubmittersRCV002999013
NM_005055.5(RAPSN):c.79C>T (p.Gln27Ter)	SNV Germline	Chr11:47448886	Pathogenic	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 11	Criteria Provided Single Submitter	CA380336953	rs_2076432332	1 SubmittersRCV003023050
NM_173660.5(DOK7):c.332-1G>C	SNV Germline	Chr4:3476341	Likely pathogenic	Condition: not provided Congenital myasthenic syndrome 10 Fetal akinesia deformation sequence 1 Fetal akinesia deformation sequence 3	Criteria Provided Multiple Submitters No Conflicts	CA356114063	rs_1490214819	3 SubmittersRCV003144810 RCV003778833 RCV004577034
NM_005592.4(MUSK):c.1185-24T>A	SNV Germline	Chr9:110775764	Conflicting classifications of pathogenicity	Condition: not provided Congenital myasthenic syndrome 9 Fetal akinesia deformation sequence 1	Criteria Provided Conflicting Classifications	CA5184297	rs_376856980	2 SubmittersRCV003132711 RCV004725650
NM_005055.5(RAPSN):c.913-1G>C	SNV Germline	Chr11:47441213	Likely pathogenic	Fetal akinesia deformation sequence 2 Congenital myasthenic syndrome 11 Fetal akinesia deformation sequence 1	Criteria Provided Multiple Submitters No Conflicts	CA380328783	rs_2496097284	2 SubmittersRCV003471789 RCV003779090
NM_005055.5(RAPSN):c.192+2T>G	SNV Germline	Chr11:47448771	Pathogenic	Fetal akinesia deformation sequence 2 Condition: not provided Congenital myasthenic syndrome 11 Fetal akinesia deformation sequence 1	Criteria Provided Multiple Submitters No Conflicts	CA380335601	rs_2496136668	3 SubmittersRCV003463456 RCV004593294 RCV003779091
NM_173660.5(DOK7):c.773-1G>C	SNV Germline	Chr4:3492758	Likely pathogenic	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 10	Criteria Provided Single Submitter	CA356115885	rs_1268475752	1 SubmittersRCV003782020
NM_173660.5(DOK7):c.332-2A>G	SNV Germline	Chr4:3476340	Likely pathogenic	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 10	Criteria Provided Single Submitter	CA356114057	rs_1480670755	1 SubmittersRCV003782240
NM_173660.5(DOK7):c.190G>C (p.Gly64Arg)	SNV Germline	Chr4:3473495	Likely pathogenic	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 10	Criteria Provided Single Submitter	CA356113311	rs_1246160310	1 SubmittersRCV003796003
NM_005592.4(MUSK):c.207-1G>A	SNV Germline	Chr9:110687116	Likely pathogenic	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 9	Criteria Provided Single Submitter	CA374664135	rs_2490594673	1 SubmittersRCV003783067
NM_173660.5(DOK7):c.1236C>A (p.Cys412Ter)	SNV Germline	Chr4:3493222	Pathogenic	Congenital myasthenic syndrome 10 Fetal akinesia deformation sequence 1 Fetal akinesia deformation sequence 3	Criteria Provided Multiple Submitters No Conflicts	CA356117608	rs_556834250	2 SubmittersRCV003781026 RCV004573305
NM_173660.5(DOK7):c.1378C>T (p.Gln460Ter)	SNV Germline	Chr4:3493364	Pathogenic	Congenital myasthenic syndrome 10 Fetal akinesia deformation sequence 1 Fetal akinesia deformation sequence 3	Criteria Provided Multiple Submitters No Conflicts	CA356117858	rs_1355424790	2 SubmittersRCV003781027 RCV004573306
NM_005592.4(MUSK):c.461G>A (p.Trp154Ter)	SNV Germline	Chr9:110695505	Pathogenic	Congenital myasthenic syndrome 9 Fetal akinesia deformation sequence 1	Criteria Provided Single Submitter	CA198339781	rs_866186589	1 SubmittersRCV003795734
NM_005592.4(MUSK):c.1360+1G>A	SNV Germline	Chr9:110775964	Likely pathogenic	Congenital myasthenic syndrome 9 Fetal akinesia deformation sequence 1	Criteria Provided Single Submitter	CA374473428	rs_2491098868	1 SubmittersRCV003793156
NM_005592.4(MUSK):c.1185-2A>G	SNV Germline	Chr9:110775786	Likely pathogenic	Congenital myasthenic syndrome 9 Fetal akinesia deformation sequence 1	Criteria Provided Single Submitter	CA374472566	rs_2491096235	1 SubmittersRCV003793173
NM_005055.5(RAPSN):c.691-1G>A	SNV Germline	Chr11:47441922	Likely pathogenic	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 11	Criteria Provided Single Submitter	CA380330635	rs_2076368824	1 SubmittersRCV003780098
NM_005592.4(MUSK):c.1218C>A (p.Cys406Ter)	SNV Germline	Chr9:110775821	Pathogenic	Congenital myasthenic syndrome 9 Fetal akinesia deformation sequence 1	Criteria Provided Single Submitter	CA374472832	rs_368395413	1 SubmittersRCV003789269
NM_173660.5(DOK7):c.718C>T (p.Gln240Ter)	SNV Germline	Chr4:3489742	Pathogenic	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 10	Criteria Provided Single Submitter	CA356115573	rs_1237414916	1 SubmittersRCV003790249
NM_005592.4(MUSK):c.1586+1G>A	SNV Germline	Chr9:110785017	Likely pathogenic	Congenital myasthenic syndrome 9 Fetal akinesia deformation sequence 1	Criteria Provided Multiple Submitters No Conflicts	CA374475592	rs_2491148034	2 SubmittersRCV003790438
NM_005592.4(MUSK):c.2T>C (p.Met1Thr)	SNV Germline	Chr9:110668906	Pathogenic	Condition: not provided Congenital myasthenic syndrome 9 Fetal akinesia deformation sequence 1	Criteria Provided Multiple Submitters No Conflicts	CA374667961	rs_1416057660	2 SubmittersRCV005001446 RCV003796367
NM_005592.4(MUSK):c.754-1G>T	SNV Germline	Chr9:110747640	Likely pathogenic	Congenital myasthenic syndrome 9 Fetal akinesia deformation sequence 1	Criteria Provided Single Submitter	CA374668084	rs_2490938188	1 SubmittersRCV003793684
NM_005055.5(RAPSN):c.531+1G>A	SNV Germline	Chr11:47447811	Pathogenic	Congenital myasthenic syndrome 11 Fetal akinesia deformation sequence 1	Criteria Provided Single Submitter	CA380333479	rs_1421354085	1 SubmittersRCV003791216
NM_005592.4(MUSK):c.913+2T>C	SNV Germline	Chr9:110747802	Likely pathogenic	Congenital myasthenic syndrome 9 Fetal akinesia deformation sequence 1	Criteria Provided Single Submitter	CA5184204	rs_757030913	1 SubmittersRCV003800134
NM_005592.4(MUSK):c.206+2T>C	SNV Germline	Chr9:110682802	Likely pathogenic	Congenital myasthenic syndrome 9 Fetal akinesia deformation sequence 1	Criteria Provided Single Submitter	CA374670410	rs_2076149627	1 SubmittersRCV003798602
NM_173660.5(DOK7):c.674C>A (p.Ser225Ter)	SNV Germline	Chr4:3489698	Pathogenic	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 10	Criteria Provided Single Submitter	CA356115360	rs_769699131	1 SubmittersRCV003801284
NM_173660.5(DOK7):c.28C>T (p.Gln10Ter)	SNV Germline	Chr4:3463403	Pathogenic	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 10	Criteria Provided Single Submitter	CA356111983	rs_2474961706	1 SubmittersRCV003794863
NM_005055.5(RAPSN):c.888G>A (p.Trp296Ter)	SNV Germline	Chr11:47441635	Pathogenic	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 11	Criteria Provided Single Submitter	CA380328989	rs_2496099950	1 SubmittersRCV003802714
NM_005055.5(RAPSN):c.733C>T (p.Gln245Ter)	SNV Germline	Chr11:47441879	Pathogenic/Likely pathogenic	Congenital myasthenic syndrome 11 Fetal akinesia deformation sequence 1 Fetal akinesia deformation sequence 2	Criteria Provided Multiple Submitters No Conflicts	CA380330266	rs_2496102548	2 SubmittersRCV003801835 RCV004573334
NM_005592.4(MUSK):c.114T>A (p.Asp38Glu)	SNV Germline	Chr9:110682708	Likely pathogenic	Congenital myasthenic syndrome 9 Fetal akinesia deformation sequence 1 MUSK-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA5183928	rs_775587809	2 SubmittersRCV003802057 RCV005407260
NM_173660.5(DOK7):c.852G>A (p.Trp284Ter)	SNV Germline	Chr4:3492838	Pathogenic	Congenital myasthenic syndrome 10 Fetal akinesia deformation sequence 1	Criteria Provided Single Submitter	CA356116090	rs_2475110229	1 SubmittersRCV003802250
NM_005055.5(RAPSN):c.885C>A (p.Cys295Ter)	SNV Germline	Chr11:47441638	Pathogenic	Congenital myasthenic syndrome 11 Fetal akinesia deformation sequence 1	Criteria Provided Single Submitter	CA380329013	rs_2496099964	1 SubmittersRCV003818016
NM_173660.5(DOK7):c.496G>T (p.Gly166Ter)	SNV Germline	Chr4:3476506	Pathogenic	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 10	Criteria Provided Single Submitter	CA356114445	rs_781227659	1 SubmittersRCV003801737
NM_005055.5(RAPSN):c.177C>A (p.Tyr59Ter)	SNV Germline	Chr11:47448788	Pathogenic	Congenital myasthenic syndrome 11 Fetal akinesia deformation sequence 1	Criteria Provided Single Submitter	CA380335746	rs_2076431110	1 SubmittersRCV003809794
NM_173660.5(DOK7):c.958A>T (p.Lys320Ter)	SNV Germline	Chr4:3492944	Pathogenic	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 10	Criteria Provided Single Submitter	CA356116503	rs_776722884	1 SubmittersRCV003813245
NM_005592.4(MUSK):c.790C>T (p.Arg264Ter)	SNV Germline	Chr9:110747677	Pathogenic	Congenital myasthenic syndrome 9 Fetal akinesia deformation sequence 1	Criteria Provided Single Submitter	CA5184185	rs_777482709	1 SubmittersRCV003812668
NM_005592.4(MUSK):c.2122C>T (p.Gln708Ter)	SNV Germline	Chr9:110800500	Pathogenic	Congenital myasthenic syndrome 9 Fetal akinesia deformation sequence 1	Criteria Provided Single Submitter	CA374478162	rs_2491210783	1 SubmittersRCV003810192
NM_005592.4(MUSK):c.1592C>G (p.Ser531Ter)	SNV Germline	Chr9:110785532	Pathogenic	Congenital myasthenic syndrome 9 Fetal akinesia deformation sequence 1	Criteria Provided Single Submitter	CA374475619	rs_2491151455	1 SubmittersRCV003810302
NM_005592.4(MUSK):c.967G>T (p.Glu323Ter)	SNV Germline	Chr9:110767866	Pathogenic	Congenital myasthenic syndrome 9 Fetal akinesia deformation sequence 1	Criteria Provided Single Submitter			1 SubmittersRCV005215022
NM_005592.4(MUSK):c.2268C>G (p.Tyr756Ter)	SNV Germline	Chr9:110800646	Pathogenic	Congenital myasthenic syndrome 9 Fetal akinesia deformation sequence 1	Criteria Provided Single Submitter			1 SubmittersRCV005215657
NM_173660.5(DOK7):c.100+1G>A	SNV Germline	Chr4:3463552	Likely pathogenic	Congenital myasthenic syndrome 10 Fetal akinesia deformation sequence 1	Criteria Provided Single Submitter			1 SubmittersRCV005216574
NM_173660.5(DOK7):c.318T>A (p.Tyr106Ter)	SNV Germline	Chr4:3473623	Pathogenic	Congenital myasthenic syndrome 10 Fetal akinesia deformation sequence 1	Criteria Provided Single Submitter			1 SubmittersRCV005228309
NM_005592.4(MUSK):c.358+2T>C	SNV Germline	Chr9:110687270	Likely pathogenic	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 9	Criteria Provided Single Submitter			1 SubmittersRCV005362216
NM_005592.4(MUSK):c.541C>T (p.Gln181Ter)	SNV Germline	Chr9:110697379	Likely pathogenic	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 9	Criteria Provided Single Submitter			1 SubmittersRCV005362217

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

SNV
Germline

Chr18:44951952

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA114715

rs_267607038

12 SubmittersRCV000001086 RCV000255245 RCV001007919 RCV000855501 RCV004532268

NM_173660.5(DOK7):c.601C>T (p.Arg201Ter)

SNV
Germline

Chr4:3485607

Pathogenic

Congenital myasthenic syndrome 10
Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 10
Condition: not provided
Fetal akinesia deformation sequence 3
Congenital myasthenic syndrome 10
Fetal akinesia deformation sequence 3

Criteria Provided
Multiple Submitters
No Conflicts

CA251739

rs_118203995

5 SubmittersRCV000001341 RCV001851535 RCV001781161 RCV004566668 RCV005024984

NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys)

SNV
Germline

Chr11:47448079

Pathogenic/Likely pathogenic

Congenital myasthenic syndrome 4C
Congenital myasthenic syndrome 11
Condition: not provided
Congenital myasthenic syndrome
Fetal akinesia deformation sequence 1
Myopathy
Congenital myasthenic syndrome 11
Fetal akinesia deformation sequence 1
Inborn genetic diseases
Fetal akinesia deformation sequence 2
RAPSN-related disorder
Fetal akinesia deformation sequence 2
Congenital myasthenic syndrome 11

Criteria Provided
Multiple Submitters
No Conflicts

CA199511

rs_104894299

41 SubmittersRCV000008512 RCV000170316 RCV000224062 RCV000235028 RCV000286918 RCV000414829 RCV000477955 RCV002512909 RCV003466838 RCV004732539 RCV005049322

NM_005055.5(RAPSN):c.41T>C (p.Leu14Pro)

SNV
Germline

Chr11:47448924

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA119252

rs_104894300

4 SubmittersRCV000008513 RCV001851738 RCV003460439 RCV004719634

NM_005055.5(RAPSN):c.-210A>G

SNV
Germline

Chr11:47449174

Pathogenic/Likely pathogenic

Congenital myasthenic syndrome 11
Congenital myasthenic syndrome
Congenital myasthenic syndrome 11
Fetal akinesia deformation sequence 1
Fetal akinesia deformation sequence 2
Congenital myasthenic syndrome 11
Abnormality of the musculature
Fetal akinesia deformation sequence 2

Criteria Provided
Multiple Submitters
No Conflicts

CA212886

rs_786200905

10 SubmittersRCV000008517 RCV000235034 RCV000664547 RCV001824563 RCV001813966 RCV003460440

NM_005055.5(RAPSN):c.848T>C (p.Leu283Pro)

SNV
Germline

Chr11:47441675

Conflicting classifications of pathogenicity

Congenital myasthenic syndrome 11
Condition: not provided
Global developmental delay
Fetal akinesia deformation sequence 2
RAPSN-related disorder
Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 11
Fetal akinesia deformation sequence 1

Criteria Provided
Conflicting Classifications

CA119255

rs_104894293

8 SubmittersRCV000008518 RCV000178899 RCV001255415 RCV003460441 RCV001731282 RCV001336781 RCV002512911

NM_005055.5(RAPSN):c.193-15C>A

SNV
Germline

Chr11:47448165

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA212887

rs_45547231

3 SubmittersRCV000008519 RCV001851739 RCV004766987

NM_005055.5(RAPSN):c.490C>T (p.Arg164Cys)

SNV
Germline

Chr11:47447853

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA119256

rs_104894294

6 SubmittersRCV000008520 RCV000415079 RCV001343279 RCV005049323 RCV003466839

NM_005055.5(RAPSN):c.133G>A (p.Val45Met)

SNV
Germline

Chr11:47448832

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA119257

rs_121909254

10 SubmittersRCV000008521 RCV000992743 RCV001275253 RCV000704275 RCV003460442 RCV002476946

NM_005055.5(RAPSN):c.484G>A (p.Glu162Lys)

SNV
Germline

Chr11:47447859

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA119258

rs_121909255

4 SubmittersRCV000008522 RCV001231489 RCV003460443 RCV005049324

NM_005592.4(MUSK):c.2368G>A (p.Val790Met)

SNV
Germline

Chr9:110800746

Conflicting classifications of pathogenicity

Congenital myasthenic syndrome 9
Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 9
Condition: not provided
MUSK-related disorder
Fetal akinesia deformation sequence 1

Criteria Provided
Conflicting Classifications

CA249734

rs_199476083

8 SubmittersRCV000008722 RCV000701593 RCV000520620 RCV003492289 RCV001329438

NM_005592.4(MUSK):c.1815G>A (p.Met605Ile)

SNV
Germline

Chr9:110787726

Conflicting classifications of pathogenicity

Congenital myasthenic syndrome 9
Congenital myasthenic syndrome 9
Fetal akinesia deformation sequence 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5184484

rs_766640370

3 SubmittersRCV000054417 RCV002513709 RCV004791252

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

SNV
Germline

Chr18:10671729

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA090890

rs_587777450

15 SubmittersRCV000224805 RCV000125478 RCV000623552 RCV000855472 RCV003224865 RCV001091982 RCV003147342

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

SNV
Germline

Chr19:38516111

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA024994

rs_587784379

7 SubmittersRCV000147451 RCV000855485 RCV001004921 RCV001036190 RCV003998165

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

SNV
Germline

Chr19:38477821

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA024441

rs_200546266

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

NM_001999.4(FBN2):c.1064G>A (p.Gly355Asp)

SNV
Germline

Chr5:128408688

Likely pathogenic

Fetal akinesia deformation sequence 1
Cerebral ischemia
Neonatal death

No Assertion Criteria Provided

CA186065

rs_730882230

1 SubmittersRCV000162150

NM_005592.4(MUSK):c.1724T>C (p.Ile575Thr)

SNV
Germline

Chr9:110785664

Pathogenic/Likely pathogenic

Fetal akinesia deformation sequence 1
Bilateral ptosis
Delayed gross motor development
Respiratory insufficiency
Stridor
Condition: not provided
Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 9

Criteria Provided
Multiple Submitters
No Conflicts

CA5184434

rs_751889864

6 SubmittersRCV000170588 RCV000414863 RCV001579456 RCV002515221

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

SNV
Germline

Chr3:38551159

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA018989

rs_786205271

6 SubmittersRCV000171697 RCV000855502 RCV001842522 RCV005480327

NM_173660.5(DOK7):c.331+9C>T

SNV
Germline

Chr4:3473645

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Congenital myasthenic syndrome 10
Fetal akinesia deformation sequence 1

Criteria Provided
Conflicting Classifications

CA243604

rs_370879328

3 SubmittersRCV000243798 RCV000724336 RCV001080683

NM_005055.5(RAPSN):c.737C>T (p.Ala246Val)

SNV
Germline

Chr11:47441875

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA275256

rs_559933584

5 SubmittersRCV000178236 RCV001313406 RCV003462285 RCV005049458

NM_005592.4(MUSK):c.486G>C (p.Arg162Ser)

SNV
Germline

Chr9:110695530

Conflicting classifications of pathogenicity

Condition: not provided
Congenital myasthenic syndrome 9
Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 9

Criteria Provided
Conflicting Classifications

CA245290

rs_200750233

4 SubmittersRCV000178247 RCV001088756 RCV001168567

NM_005055.5(RAPSN):c.957G>C (p.Val319=)

SNV
Germline

Chr11:47441168

Conflicting classifications of pathogenicity

Condition: not provided
Congenital myasthenic syndrome 11
Fetal akinesia deformation sequence 1

Criteria Provided
Conflicting Classifications

CA246696

rs_794727796

2 SubmittersRCV000179449 RCV001461803

NM_173660.5(DOK7):c.1305C>T (p.Gly435=)

SNV
Germline

Chr4:3493291

Conflicting classifications of pathogenicity

Condition: not provided
Congenital myasthenic syndrome 10
Fetal akinesia deformation sequence 1

Criteria Provided
Conflicting Classifications

CA247380

rs_201894731

2 SubmittersRCV000180008 RCV001852240

NM_173660.5(DOK7):c.1313C>G (p.Thr438Arg)

SNV
Germline

Chr4:3493299

Conflicting classifications of pathogenicity

Condition: not provided
Congenital myasthenic syndrome 10
Fetal akinesia deformation sequence 1
DOK7-related disorder

Criteria Provided
Conflicting Classifications

CA247386

rs_376805794

3 SubmittersRCV000180011 RCV001085069 RCV003977480

NM_173660.5(DOK7):c.918C>T (p.Ala306=)

SNV
Germline

Chr4:3492904

Conflicting classifications of pathogenicity

not specified
Congenital myasthenic syndrome 10
Fetal akinesia deformation sequence 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA247388

rs_141947707

4 SubmittersRCV000254259 RCV001087618 RCV000724615

NM_173660.5(DOK7):c.1305C>A (p.Gly435=)

SNV
Germline

Chr4:3493291

Conflicting classifications of pathogenicity

Condition: not provided
Congenital myasthenic syndrome 10
Fetal akinesia deformation sequence 1

Criteria Provided
Conflicting Classifications

CA247390

rs_201894731

3 SubmittersRCV000180014 RCV001080819

NM_005592.4(MUSK):c.79+2T>G

SNV
Germline

Chr9:110668985

Pathogenic

Congenital myasthenic syndrome 4C
Congenital myasthenic syndrome 9
Fetal akinesia deformation sequence 1
Condition: not provided
Congenital myasthenic syndrome 9

Criteria Provided
Multiple Submitters
No Conflicts

CA277140

rs_200783529

4 SubmittersRCV000193437 RCV001064004 RCV002285275 RCV003458197

NM_005592.4(MUSK):c.374G>T (p.Arg125Leu)

SNV
Germline

Chr9:110695418

Conflicting classifications of pathogenicity

Congenital myasthenic syndrome 4C
Congenital myasthenic syndrome 9
Fetal akinesia deformation sequence 1
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA276993

rs_375737188

4 SubmittersRCV000192613 RCV000526130 RCV003343688 RCV004794374

NM_005592.4(MUSK):c.308A>G (p.Asn103Ser)

SNV
Germline

Chr9:110687218

Pathogenic/Likely pathogenic

Congenital myasthenic syndrome 9
Fetal akinesia deformation sequence 1
Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 9
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA339624

rs_551423795

4 SubmittersRCV000202607 RCV000677721 RCV001853262 RCV003129807

NM_173660.5(DOK7):c.296C>T (p.Ala99Val)

SNV
Germline

Chr4:3473601

Conflicting classifications of pathogenicity

not specified
Congenital myasthenic syndrome 10
Fetal akinesia deformation sequence 1
Fetal akinesia deformation sequence 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2828922

rs_138010842

7 SubmittersRCV000252323 RCV000818679 RCV001334668 RCV001509232

NM_005592.4(MUSK):c.666T>C (p.Asn222=)

SNV
Germline

Chr9:110734288

Conflicting classifications of pathogenicity

Congenital myasthenic syndrome 9
not specified
Congenital myasthenic syndrome 9
Fetal akinesia deformation sequence 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5184149

rs_56044404

6 SubmittersRCV000309579 RCV000243198 RCV000556195 RCV001535426

NM_005592.4(MUSK):c.1719T>C (p.Asn573=)

SNV
Germline

Chr9:110785659

Conflicting classifications of pathogenicity

not specified
Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 9
Congenital myasthenic syndrome 9

Criteria Provided
Conflicting Classifications

CA5184433

rs_373118888

3 SubmittersRCV000246294 RCV000537953 RCV001166934

NM_005592.4(MUSK):c.1931T>C (p.Val644Ala)

SNV
Germline

Chr9:110800309

Conflicting classifications of pathogenicity

not specified
Congenital myasthenic syndrome 9
Condition: not provided
Congenital myasthenic syndrome 9
Fetal akinesia deformation sequence 1

Criteria Provided
Conflicting Classifications

CA5184534

rs_41279055

9 SubmittersRCV000244965 RCV000306389 RCV000513674 RCV001081301

NM_005055.5(RAPSN):c.1041G>A (p.Ala347=)

SNV
Germline

Chr11:47438857

Conflicting classifications of pathogenicity

not specified
Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 11
Condition: not provided
Congenital myasthenic syndrome 11
Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome
Fetal akinesia deformation sequence 2

Criteria Provided
Conflicting Classifications

CA5976519

rs_149683345

6 SubmittersRCV000246362 RCV000402474 RCV000344045 RCV000873776 RCV001084322 RCV001274401 RCV001578812

NM_005055.5(RAPSN):c.474C>T (p.Asp158=)

SNV
Germline

Chr11:47447869

Conflicting classifications of pathogenicity

not specified
Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 11
Condition: not provided
Congenital myasthenic syndrome
Congenital myasthenic syndrome 11
Fetal akinesia deformation sequence 1

Criteria Provided
Conflicting Classifications

CA5976738

rs_56245238

8 SubmittersRCV000247109 RCV000355174 RCV000404374 RCV000726774 RCV001275248 RCV001080568

NM_005055.5(RAPSN):c.162G>A (p.Ser54=)

SNV
Germline

Chr11:47448803

Conflicting classifications of pathogenicity

not specified
Congenital myasthenic syndrome 11
Fetal akinesia deformation sequence 1
Condition: not provided
Congenital myasthenic syndrome 11
Fetal akinesia deformation sequence 1

Criteria Provided
Conflicting Classifications

CA5976819

rs_72905825

6 SubmittersRCV000246056 RCV000545779 RCV001705366 RCV001105612 RCV001105613

NM_005055.5(RAPSN):c.-199C>G

SNV
Germline

Chr11:47449163

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10587996

rs_886037842

4 SubmittersRCV000235022 RCV001215451 RCV003469194

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

SNV
Germline

Chr1:197125045

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10602744

rs_886041709

4 SubmittersRCV000294377 RCV000855492 RCV002503977

NM_005592.4(MUSK):c.665A>G (p.Asn222Ser)

SNV
Germline

Chr9:110734287

Conflicting classifications of pathogenicity

not specified
Congenital myasthenic syndrome 9
Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 9
MUSK-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5184148

rs_55826142

7 SubmittersRCV000384112 RCV000653223 RCV001168571 RCV004542984 RCV003311738

NM_173660.5(DOK7):c.1029C>T (p.Gly343=)

SNV
Germline

Chr4:3493015

Conflicting classifications of pathogenicity

Condition: not provided
Congenital myasthenic syndrome 10
Fetal akinesia deformation sequence 1
DOK7-related disorder

Criteria Provided
Conflicting Classifications

CA2829332

rs_375877997

3 SubmittersRCV000292128 RCV001513781 RCV003967696

NM_173660.5(DOK7):c.1278C>T (p.Pro426=)

SNV
Germline

Chr4:3493264

Conflicting classifications of pathogenicity

Condition: not provided
Congenital myasthenic syndrome 10
Fetal akinesia deformation sequence 1
not specified

Criteria Provided
Conflicting Classifications

CA2829444

rs_139468087

4 SubmittersRCV000320886 RCV001081974 RCV001660540

NM_173660.5(DOK7):c.161G>A (p.Arg54His)

SNV
Germline

Chr4:3473466

Conflicting classifications of pathogenicity

Condition: not provided
Congenital myasthenic syndrome 10
Fetal akinesia deformation sequence 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2828894

rs_201818140

5 SubmittersRCV000329116 RCV001088526 RCV003362744

NM_005055.5(RAPSN):c.1203C>T (p.Asn401=)

SNV
Germline

Chr11:47438011

Conflicting classifications of pathogenicity

Condition: not provided
Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 11
Congenital myasthenic syndrome
RAPSN-related disorder

Criteria Provided
Conflicting Classifications

CA10605108

rs_757215612

5 SubmittersRCV000400669 RCV001082882 RCV001275239 RCV004535349

NM_005592.4(MUSK):c.1941C>T (p.Val647=)

SNV
Germline

Chr9:110800319

Conflicting classifications of pathogenicity

not specified
Congenital myasthenic syndrome 9
Congenital myasthenic syndrome 9
Fetal akinesia deformation sequence 1

Criteria Provided
Conflicting Classifications

CA5184536

rs_200312379

3 SubmittersRCV000338006 RCV000347267 RCV000540070

NM_005055.5(RAPSN):c.567G>A (p.Ala189=)

SNV
Germline

Chr11:47442779

Conflicting classifications of pathogenicity

Condition: not provided
Congenital myasthenic syndrome 11
Fetal akinesia deformation sequence 1

Criteria Provided
Conflicting Classifications

CA10605659

rs_886043559

2 SubmittersRCV000280235 RCV001490921

NM_005055.5(RAPSN):c.903G>A (p.Ala301=)

SNV
Germline

Chr11:47441620

Conflicting classifications of pathogenicity

Condition: not provided
Congenital myasthenic syndrome 11
Fetal akinesia deformation sequence 1
Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome
Congenital myasthenic syndrome 11

Criteria Provided
Conflicting Classifications

CA5976594

rs_56040810

4 SubmittersRCV000304526 RCV001081237 RCV001106555 RCV001274406 RCV001106554

NM_005592.4(MUSK):c.1291G>A (p.Val431Met)

SNV
Germline

Chr9:110775894

Conflicting classifications of pathogenicity

Congenital myasthenic syndrome 9
Inborn genetic diseases
Congenital myasthenic syndrome 9
Fetal akinesia deformation sequence 1

Criteria Provided
Conflicting Classifications

CA5184320

rs_372013406

3 SubmittersRCV000350489 RCV005372301 RCV002524580

NM_005592.4(MUSK):c.2098G>A (p.Ala700Thr)

SNV
Germline

Chr9:110800476

Conflicting classifications of pathogenicity

Congenital myasthenic syndrome 9
Congenital myasthenic syndrome 9
Fetal akinesia deformation sequence 1

Criteria Provided
Conflicting Classifications

CA5184570

rs_547450130

3 SubmittersRCV000403675 RCV002061309

NM_005592.4(MUSK):c.780T>C (p.Ser260=)

SNV
Germline

Chr9:110747667

Conflicting classifications of pathogenicity

Congenital myasthenic syndrome 9
Congenital myasthenic syndrome 9
Fetal akinesia deformation sequence 1

Criteria Provided
Conflicting Classifications

CA10628797

rs_886063353

2 SubmittersRCV000359604 RCV003766096

NM_005055.5(RAPSN):c.690+10C>T

SNV
Germline

Chr11:47442646

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5976676

rs_78293924

3 SubmittersRCV000946126 RCV001274412 RCV000343403 RCV000392928

NM_005055.5(RAPSN):c.429G>C (p.Leu143=)

SNV
Germline

Chr11:47447914

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10631027

rs_762052702

2 SubmittersRCV000275433 RCV005209502 RCV000328229

NM_005055.5(RAPSN):c.192+12C>T

SNV
Germline

Chr11:47448761

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5976812

rs_774654232

2 SubmittersRCV000279556 RCV000350937 RCV002056208

NM_005592.4(MUSK):c.312T>C (p.Gly104=)

SNV
Germline

Chr9:110687222

Conflicting classifications of pathogenicity

Congenital Myasthenic Syndrome, Recessive
Congenital myasthenic syndrome 9
Fetal akinesia deformation sequence 1
MUSK-related disorder

Criteria Provided
Conflicting Classifications

CA5183982

rs_56181115

3 SubmittersRCV000337999 RCV000556773 RCV004530473

NM_005592.4(MUSK):c.1250C>T (p.Thr417Ile)

SNV
Germline

Chr9:110775853

Conflicting classifications of pathogenicity

Congenital myasthenic syndrome 9
Congenital myasthenic syndrome 9
Fetal akinesia deformation sequence 1

Criteria Provided
Conflicting Classifications

CA5184311

rs_538655454

2 SubmittersRCV000281406 RCV001512370

NM_005592.4(MUSK):c.2393A>G (p.Tyr798Cys)

SNV
Germline

Chr9:110800771

Conflicting classifications of pathogenicity

Congenital myasthenic syndrome 9
Condition: not provided
Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 9
Fetal akinesia deformation sequence 1

Criteria Provided
Conflicting Classifications

CA5184619

rs_188840021

5 SubmittersRCV000304044 RCV000584854 RCV000653236 RCV003147451

NM_005592.4(MUSK):c.206+10C>T

SNV
Germline

Chr9:110682810

Conflicting classifications of pathogenicity

Congenital myasthenic syndrome 9
Congenital myasthenic syndrome 9
Fetal akinesia deformation sequence 1

Criteria Provided
Conflicting Classifications

CA5183939

rs_371617202

2 SubmittersRCV000376465 RCV000877216

NM_005592.4(MUSK):c.1522G>A (p.Val508Met)

SNV
Germline

Chr9:110784952

Conflicting classifications of pathogenicity

Congenital myasthenic syndrome 9
Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 9
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5184382

rs_769267043

4 SubmittersRCV000296540 RCV002058765 RCV003129852

NM_005055.5(RAPSN):c.821G>A (p.Ser274Asn)

SNV
Germline

Chr11:47441702

Conflicting classifications of pathogenicity

Congenital myasthenic syndrome 11
Fetal akinesia deformation sequence 1
Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 11
Condition: not provided
Congenital myasthenic syndrome
RAPSN-related disorder

Criteria Provided
Conflicting Classifications

CA5976611

rs_140996453

6 SubmittersRCV000261059 RCV000316244 RCV000525112 RCV001531730 RCV001274409 RCV004537718

NM_005055.5(RAPSN):c.691-4G>T

SNV
Germline

Chr11:47441925

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10638749

rs_886048388

2 SubmittersRCV000328166 RCV000291804 RCV000980196

NM_005055.5(RAPSN):c.928G>A (p.Glu310Lys)

SNV
Germline

Chr11:47441197

Conflicting classifications of pathogenicity

Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 11
Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 11
Condition: not provided
Congenital myasthenic syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5976558

rs_367565995

5 SubmittersRCV000396758 RCV000358965 RCV001223828 RCV003129828 RCV001833442 RCV005470407

NM_005055.5(RAPSN):c.492C>T (p.Arg164=)

SNV
Germline

Chr11:47447851

Conflicting classifications of pathogenicity

Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 11
Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome
Condition: not provided
Congenital myasthenic syndrome 11
RAPSN-related disorder

Criteria Provided
Conflicting Classifications

CA5976732

rs_146237774

5 SubmittersRCV000297949 RCV000528123 RCV001274414 RCV003133218 RCV000405598 RCV004537719

NM_005055.5(RAPSN):c.412G>A (p.Val138Ile)

SNV
Germline

Chr11:47447931

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5976748

rs_35810986

6 SubmittersRCV000269370 RCV000366609 RCV001276398 RCV000810152 RCV002480112 RCV004693040

NM_005592.4(MUSK):c.2365G>A (p.Gly789Ser)

SNV
Germline

Chr9:110800743

Conflicting classifications of pathogenicity

Bilateral ptosis
Stridor
Respiratory insufficiency
Delayed gross motor development
Condition: not provided
Fetal akinesia deformation sequence 1

Criteria Provided
Conflicting Classifications

CA16043436

rs_1057518966

2 SubmittersRCV000415334 RCV003129855 RCV001198407

NM_005055.5(RAPSN):c.271C>T (p.Arg91Cys)

SNV
Germline

Chr11:47448072

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA5976769

rs_767507908

4 SubmittersRCV000443235 RCV001833532 RCV001861510 RCV005049547

NM_005055.5(RAPSN):c.439G>A (p.Glu147Lys)

SNV
Germline

Chr11:47447904

Pathogenic/Likely pathogenic

Condition: not provided
RAPSN-related disorder
Fetal akinesia deformation sequence 2
Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 11

Criteria Provided
Multiple Submitters
No Conflicts

CA5976743

rs_560525099

5 SubmittersRCV000432123 RCV001731679 RCV002466497 RCV002519529

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

SNV
Germline

Chr3:81537021

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2499591

rs_552094593

7 SubmittersRCV000487962 RCV000855462 RCV001329659 RCV001829394 RCV003330722 RCV002528222

NM_173660.5(DOK7):c.513C>T (p.Gly171=)

SNV
Germline

Chr4:3476523

Pathogenic/Likely pathogenic

Congenital myasthenic syndrome 10
Congenital myasthenic syndrome 10
Fetal akinesia deformation sequence 3
Fetal akinesia deformation sequence 3
Congenital myasthenic syndrome
Condition: not provided
Congenital myasthenic syndrome 10
Fetal akinesia deformation sequence 1

Criteria Provided
Multiple Submitters
No Conflicts

CA2829017

rs_775583136

5 SubmittersRCV000679965 RCV005034033 RCV003470614 RCV002282177 RCV000493977 RCV001036855

NM_005592.4(MUSK):c.2291T>C (p.Ile764Thr)

SNV
Germline

Chr9:110800669

Conflicting classifications of pathogenicity

Condition: not provided
Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 9
Congenital myasthenic syndrome 9

Criteria Provided
Conflicting Classifications

CA374479077

rs_1554757211

3 SubmittersRCV000498004 RCV000696818 RCV001329437

NM_173660.5(DOK7):c.331+1G>T

SNV
Germline

Chr4:3473637

Pathogenic

Congenital myasthenic syndrome 10
Condition: not provided
Fetal akinesia deformation sequence 3
Congenital myasthenic syndrome
DOK7-related disorder
Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 10

Criteria Provided
Multiple Submitters
No Conflicts

CA356113804

rs_1349476281

8 SubmittersRCV000001343 RCV000520261 RCV000767366 RCV003479149 RCV003403229 RCV003766941

NM_005592.4(MUSK):c.2408A>G (p.Tyr803Cys)

SNV
Germline

Chr9:110800786

Conflicting classifications of pathogenicity

Condition: not provided
Congenital myasthenic syndrome 9
Fetal akinesia deformation sequence 1
not specified

Criteria Provided
Conflicting Classifications

CA198363795

rs_376837791

3 SubmittersRCV000524008 RCV001858023 RCV005239128

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

SNV
Germline

Chr15:51404526

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA7560758

rs_750803388

3 SubmittersRCV000524042 RCV000855464 RCV004594071

NM_173660.5(DOK7):c.202G>A (p.Gly68Ser)

SNV
Germline

Chr4:3473507

Conflicting classifications of pathogenicity

Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 10
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2828906

rs_376509451

4 SubmittersRCV000560689 RCV000733471 RCV002528402

NM_173660.5(DOK7):c.1279G>A (p.Gly427Ser)

SNV
Germline

Chr4:3493265

Conflicting classifications of pathogenicity

Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 10
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2829446

rs_377555406

3 SubmittersRCV000537129 RCV003144335 RCV002526139

NM_173660.5(DOK7):c.1507C>A (p.Pro503Thr)

SNV
Germline

Chr4:3493493

Conflicting classifications of pathogenicity

Condition: not provided
Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 10
Inborn genetic diseases
Congenital myasthenic syndrome 10
Congenital myasthenic syndrome 10
Fetal akinesia deformation sequence 3

Criteria Provided
Conflicting Classifications

CA2829557

rs_184556570

7 SubmittersRCV000531626 RCV001086530 RCV004024008 RCV005357588 RCV002491019

NM_173660.5(DOK7):c.163A>G (p.Ser55Gly)

SNV
Germline

Chr4:3473468

Conflicting classifications of pathogenicity

Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 10
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2828896

rs_550137245

2 SubmittersRCV000535798 RCV004975654

NM_173660.5(DOK7):c.781C>G (p.Arg261Gly)

SNV
Germline

Chr4:3492767

Conflicting classifications of pathogenicity

Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 10
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2829224

rs_142821143

2 SubmittersRCV000541886 RCV003144336

NM_173660.5(DOK7):c.1171G>A (p.Gly391Arg)

SNV
Germline

Chr4:3493157

Conflicting classifications of pathogenicity

Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 10
Inborn genetic diseases
Congenital myasthenic syndrome 10
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2829394

rs_144158112

6 SubmittersRCV000545345 RCV002528401 RCV000660547 RCV001532503

NM_173660.5(DOK7):c.1346C>T (p.Thr449Met)

SNV
Germline

Chr4:3493332

Conflicting classifications of pathogenicity

Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 10
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2829476

rs_373864257

2 SubmittersRCV000554715 RCV001662553

NM_005592.4(MUSK):c.481C>T (p.Leu161Phe)

SNV
Germline

Chr9:110695525

Conflicting classifications of pathogenicity

Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 9
Condition: not provided

Criteria Provided
Conflicting Classifications

CA374665252

rs_1311636142

3 SubmittersRCV000550759 RCV003129918

NM_005592.4(MUSK):c.1026G>A (p.Ala342=)

SNV
Germline

Chr9:110767925

Conflicting classifications of pathogenicity

Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 9
Condition: not provided
MUSK-related disorder

Criteria Provided
Conflicting Classifications

CA5184263

rs_200434321

3 SubmittersRCV000543050 RCV001785661 RCV004543237

NM_005592.4(MUSK):c.1779-7C>T

SNV
Germline

Chr9:110787683

Conflicting classifications of pathogenicity

Congenital myasthenic syndrome 9
Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 9
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5184471

rs_114362384

3 SubmittersRCV001168648 RCV001080574 RCV000841942

NM_005592.4(MUSK):c.2443G>T (p.Val815Leu)

SNV
Germline

Chr9:110800821

Conflicting classifications of pathogenicity

Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 9
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5184629

rs_551520537

2 SubmittersRCV000530016 RCV002526728

NM_005592.4(MUSK):c.1245G>C (p.Glu415Asp)

SNV
Germline

Chr9:110775848

Conflicting classifications of pathogenicity

Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 9
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5184310

rs_558259191

2 SubmittersRCV000556439 RCV005443102

NM_005592.4(MUSK):c.1863G>A (p.Ala621=)

SNV
Germline

Chr9:110787774

Conflicting classifications of pathogenicity

Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 9
Congenital myasthenic syndrome 9

Criteria Provided
Conflicting Classifications

CA5184491

rs_368049319

2 SubmittersRCV000534296 RCV001168649

NM_005592.4(MUSK):c.300G>A (p.Thr100=)

SNV
Germline

Chr9:110687210

Conflicting classifications of pathogenicity

Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 9
not specified
Congenital myasthenic syndrome 9
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5183978

rs_180928221

4 SubmittersRCV000549218 RCV000605686 RCV001166858 RCV004569070

NM_005592.4(MUSK):c.1025C>T (p.Ala342Val)

SNV
Germline

Chr9:110767924

Conflicting classifications of pathogenicity

Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 9
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5184262

rs_375762569

3 SubmittersRCV000555750 RCV002526727 RCV003129917

NM_005055.5(RAPSN):c.776G>A (p.Arg259His)

SNV
Germline

Chr11:47441836

Conflicting classifications of pathogenicity

Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 11
Congenital myasthenic syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5976642

rs_766051613

4 SubmittersRCV000553703 RCV001274410 RCV001556490

NM_005055.5(RAPSN):c.640G>A (p.Val214Met)

SNV
Germline

Chr11:47442706

Conflicting classifications of pathogenicity

Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 11
Fetal akinesia deformation sequence 1
RAPSN-related disorder
Inborn genetic diseases
Congenital myasthenic syndrome 11

Criteria Provided
Conflicting Classifications

CA5976688

rs_201124957

4 SubmittersRCV000548221 RCV001103570 RCV004732944 RCV005470468 RCV001103571

NM_005055.5(RAPSN):c.853C>T (p.Gln285Ter)

SNV
Germline

Chr11:47441670

Pathogenic

Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 11

Criteria Provided
Single Submitter

CA380329271

rs_1555142603

1 SubmittersRCV000542391

NM_005055.5(RAPSN):c.370C>T (p.Gln124Ter)

SNV
Germline

Chr11:47447973

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA380334223

rs_1479498379

4 SubmittersRCV000534807 RCV003470767 RCV003114675 RCV004719872

NM_005592.4(MUSK):c.2292C>T (p.Ile764=)

SNV
Germline

Chr9:110800670

Conflicting classifications of pathogenicity

Condition: not provided
Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 9

Criteria Provided
Conflicting Classifications

CA466900984

rs_560916681

2 SubmittersRCV000596667 RCV003767356

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

SNV
Germline

Chr11:47448071

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5976768

rs_375218091

5 SubmittersRCV000591406 RCV000855473 RCV001867917 RCV003465332

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

SNV
Germline

Chr9:91733251

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5120886

rs_145631389

4 SubmittersRCV000597894 RCV000855499

NM_173660.5(DOK7):c.82A>C (p.Lys28Gln)

SNV
Germline

Chr4:3463533

Conflicting classifications of pathogenicity

Condition: not provided
Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 10

Criteria Provided
Conflicting Classifications

CA2828855

rs_576215366

2 SubmittersRCV000591680 RCV001394847

NM_005592.4(MUSK):c.2446C>T (p.Arg816Ter)

SNV
Germline

Chr9:110800824

Pathogenic/Likely pathogenic

Condition: not provided
Congenital myasthenic syndrome 9
Fetal akinesia deformation sequence 1

Criteria Provided
Multiple Submitters
No Conflicts

CA374479779

rs_1487680236

2 SubmittersRCV000627333 RCV003767843

NM_173660.5(DOK7):c.668G>A (p.Gly223Glu)

SNV
Germline

Chr4:3489692

Conflicting classifications of pathogenicity

Congenital myasthenic syndrome 10
Fetal akinesia deformation sequence 1
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2829142

rs_146895834

3 SubmittersRCV000641536 RCV005051809 RCV003372781

NM_173660.5(DOK7):c.1007C>T (p.Ser336Leu)

SNV
Germline

Chr4:3492993

Conflicting classifications of pathogenicity

Congenital myasthenic syndrome 10
Fetal akinesia deformation sequence 1
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2829324

rs_377757018

5 SubmittersRCV000641542 RCV000733472 RCV003352962

NM_173660.5(DOK7):c.1406C>A (p.Pro469His)

SNV
Germline

Chr4:3493392

Conflicting classifications of pathogenicity

Congenital myasthenic syndrome 10
Fetal akinesia deformation sequence 1
Condition: not provided
DOK7-related disorder

Criteria Provided
Conflicting Classifications

CA2829507

rs_147185207

3 SubmittersRCV000641549 RCV003144415 RCV004752978

NM_173660.5(DOK7):c.1258C>G (p.Pro420Ala)

SNV
Germline

Chr4:3493244

Conflicting classifications of pathogenicity

Congenital myasthenic syndrome 10
Fetal akinesia deformation sequence 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2829431

rs_150497723

5 SubmittersRCV000641544 RCV000732674

NM_173660.5(DOK7):c.904G>C (p.Ala302Pro)

SNV
Germline

Chr4:3492890

Conflicting classifications of pathogenicity

Congenital myasthenic syndrome 10
Fetal akinesia deformation sequence 1
Condition: not provided
DOK7-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2829279

rs_79063654

5 SubmittersRCV000641557 RCV001549466 RCV003980242 RCV004025621

NM_005592.4(MUSK):c.2200G>A (p.Gly734Ser)

SNV
Germline

Chr9:110800578

Conflicting classifications of pathogenicity

Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 9
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5184581

rs_376635652

3 SubmittersRCV000653229 RCV003133467 RCV002532005

NM_005592.4(MUSK):c.2203G>A (p.Glu735Lys)

SNV
Germline

Chr9:110800581

Conflicting classifications of pathogenicity

Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 9
Condition: not provided
Congenital myasthenic syndrome 9

Criteria Provided
Conflicting Classifications

CA5184582

rs_138418494

6 SubmittersRCV000653233 RCV000999201 RCV001169415

NM_005592.4(MUSK):c.2357G>A (p.Trp786Ter)

SNV
Germline

Chr9:110800735

Likely pathogenic

Fetal akinesia deformation sequence 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA374479434

rs_1554757237

2 SubmittersRCV000677722 RCV001784300

NM_173660.5(DOK7):c.437C>T (p.Pro146Leu)

SNV
Germline

Chr4:3476447

Pathogenic/Likely pathogenic

Congenital myasthenic syndrome 10
Fetal akinesia deformation sequence 1
Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome
Congenital myasthenic syndrome 10
Fetal akinesia deformation sequence 3

Criteria Provided
Multiple Submitters
No Conflicts

CA2828996

rs_770987150

3 SubmittersRCV001228448 RCV000679963 RCV005056424 RCV002290973 RCV003465547

NM_173660.5(DOK7):c.481G>A (p.Gly161Arg)

SNV
Germline

Chr4:3476491

Conflicting classifications of pathogenicity

Congenital myasthenic syndrome 10
Condition: not provided
Congenital myasthenic syndrome 10
Fetal akinesia deformation sequence 1
Fetal akinesia deformation sequence 3
Congenital myasthenic syndrome

Criteria Provided
Conflicting Classifications

CA2829010

rs_758131044

6 SubmittersRCV000679964 RCV001784303 RCV000797959 RCV003459654 RCV004579559

NM_173660.5(DOK7):c.514G>A (p.Gly172Arg)

SNV
Germline

Chr4:3476524

Pathogenic/Likely pathogenic

Fetal akinesia deformation sequence 1
Condition: not provided
Fetal akinesia deformation sequence 3
Congenital myasthenic syndrome
Congenital myasthenic syndrome 10
Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 10

Criteria Provided
Multiple Submitters
No Conflicts

CA2829019

rs_768892432

5 SubmittersRCV000679966 RCV001269756 RCV003459655 RCV004768550 RCV001390615 RCV004760698

NM_173660.5(DOK7):c.1205G>A (p.Arg402Gln)

SNV
Germline

Chr4:3493191

Conflicting classifications of pathogenicity

Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 10
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2829409

rs_370039804

2 SubmittersRCV000697099 RCV003144537

NM_005592.4(MUSK):c.1951A>C (p.Met651Leu)

SNV
Germline

Chr9:110800329

Conflicting classifications of pathogenicity

Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 9
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5184539

rs_199811263

2 SubmittersRCV000691383 RCV003133530

NM_173660.5(DOK7):c.1446G>A (p.Ala482=)

SNV
Germline

Chr4:3493432

Conflicting classifications of pathogenicity

Condition: not provided
Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 10

Criteria Provided
Conflicting Classifications

CA2829526

rs_773592493

2 SubmittersRCV000711501 RCV001316348

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

SNV
Germline

Chr9:91724819

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5120613

rs_117134265

7 SubmittersRCV000732649 RCV000855500 RCV001310261 RCV000903196 RCV005047000

NM_173660.5(DOK7):c.957C>G (p.Pro319=)

SNV
Germline

Chr4:3492943

Conflicting classifications of pathogenicity

Condition: not provided
Congenital myasthenic syndrome 10
Fetal akinesia deformation sequence 1
DOK7-related disorder

Criteria Provided
Conflicting Classifications

CA2829304

rs_777573281

3 SubmittersRCV000733469 RCV001855782 RCV003975287

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

SNV
Germline

Chr10:72161537

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA5548982

rs_747595523

8 SubmittersRCV000791458 RCV001004046 RCV001796204 RCV000855457

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

SNV
Germline

Chr18:10797517

Pathogenic

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

Criteria Provided
Single Submitter

CA401925060

rs_1568069621

2 SubmittersRCV000779589 RCV000855470

NM_173660.5(DOK7):c.564G>A (p.Glu188=)

SNV
Germline

Chr4:3485570

Conflicting classifications of pathogenicity

Congenital myasthenic syndrome 10
Fetal akinesia deformation sequence 1
See cases

Criteria Provided
Conflicting Classifications

CA2829063

rs_375631042

2 SubmittersRCV000810345 RCV002252245

NM_173660.5(DOK7):c.1133C>T (p.Ala378Val)

SNV
Germline

Chr4:3493119

Conflicting classifications of pathogenicity

Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 10
not specified
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2829373

rs_371846002

4 SubmittersRCV000822754 RCV001731945 RCV001766748 RCV003169039

NM_173660.5(DOK7):c.1168C>T (p.Pro390Ser)

SNV
Germline

Chr4:3493154

Conflicting classifications of pathogenicity

Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 10
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2829391

rs_149525610

3 SubmittersRCV000807008 RCV004028270 RCV003144630

NM_173660.5(DOK7):c.1215T>G (p.Tyr405Ter)

SNV
Germline

Chr4:3493201

Likely pathogenic

Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 10

Criteria Provided
Single Submitter

CA356117569

rs_544278158

1 SubmittersRCV000802260

NM_173660.5(DOK7):c.1352G>A (p.Arg451Gln)

SNV
Germline

Chr4:3493338

Conflicting classifications of pathogenicity

Congenital myasthenic syndrome 10
Fetal akinesia deformation sequence 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2829481

rs_200675356

2 SubmittersRCV000818612 RCV003145197

NM_005592.4(MUSK):c.1057C>A (p.His353Asn)

SNV
Germline

Chr9:110767956

Conflicting classifications of pathogenicity

Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 9
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5184268

rs_201791900

3 SubmittersRCV000816090 RCV003132089 RCV004949988

NM_005055.5(RAPSN):c.997G>T (p.Glu333Ter)

SNV
Germline

Chr11:47438901

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA5976532

rs_201947904

5 SubmittersRCV000822748 RCV001830818 RCV003461280 RCV005049713

NM_005592.4(MUSK):c.486+1G>C

SNV
Germline

Chr9:110695531

Likely pathogenic

Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 9

Criteria Provided
Single Submitter

CA374665276

rs_1204788520

1 SubmittersRCV000814197

NM_005592.4(MUSK):c.754-2A>G

SNV
Germline

Chr9:110747639

Likely pathogenic

Congenital myasthenic syndrome 9
Fetal akinesia deformation sequence 1

Criteria Provided
Single Submitter

CA374668077

rs_1587986079

1 SubmittersRCV000823163

NM_005055.5(RAPSN):c.872G>A (p.Gly291Asp)

SNV
Germline

Chr11:47441651

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5976598

rs_374604570

4 SubmittersRCV000850590 RCV003130080 RCV003467529 RCV002470993

NM_005055.5(RAPSN):c.457G>A (p.Ala153Thr)

SNV
Germline

Chr11:47447886

Conflicting classifications of pathogenicity

Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 11
Congenital myasthenic syndrome 11
Fetal akinesia deformation sequence 1
not specified
Fetal akinesia deformation sequence 2

Criteria Provided
Conflicting Classifications

CA5976741

rs_142635726

3 SubmittersRCV000850591 RCV001105501 RCV001105500 RCV003330969 RCV003467530

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

SNV
Germline

Chr1:12277831

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA602099

rs_79282181

4 SubmittersRCV000855522 RCV002064422 RCV003908141

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

SNV
Germline

Chr1:197128563

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA1310334

rs_774338373

3 SubmittersRCV000855491 RCV003453775 RCV001816923

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

SNV
Germline

Chr1:229432063

Pathogenic

Fetal akinesia deformation sequence 1
Arthrogryposis multiplex congenita
Actin accumulation myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA345146753

rs_1057521117

2 SubmittersRCV000855456 RCV003517274

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

SNV
Germline

Chr2:232528599

Likely pathogenic

Fetal akinesia deformation sequence 1
Arthrogryposis multiplex congenita

Criteria Provided
Single Submitter

CA350998301

rs_1574630583

1 SubmittersRCV000855459

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

SNV
Unknown

Chr4:122239608

Likely pathogenic

Fetal akinesia deformation sequence 1
Arthrogryposis multiplex congenita

Criteria Provided
Single Submitter

CA358089925

rs_1460624416

1 SubmittersRCV000855516

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

SNV
Unknown

Chr4:122336233

Likely pathogenic

Fetal akinesia deformation sequence 1
Arthrogryposis multiplex congenita

Criteria Provided
Single Submitter

CA3067930

rs_777407076

1 SubmittersRCV000855517

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

SNV
Germline

Chr8:18063197

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA370431037

rs_1588980220

2 SubmittersRCV000855490 RCV002536200

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

SNV
Germline

Chr8:18075578

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4651083

rs_200758704

4 SubmittersRCV000855489 RCV000983934 RCV001164025

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

SNV
Germline

Chr11:47441729

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA380329822

rs_1040279711

2 SubmittersRCV000855474 RCV005359606

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

SNV
Germline

Chr12:51699582

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385226373

rs_1592387849

2 SubmittersRCV000855503 RCV001775152

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

SNV
Germline

Chr13:101176356

Likely pathogenic

Fetal akinesia deformation sequence 1
Arthrogryposis multiplex congenita

Criteria Provided
Single Submitter

CA388702919

rs_1594368753

1 SubmittersRCV000855468

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

SNV
Germline

Chr13:101292087

Likely pathogenic

Fetal akinesia deformation sequence 1
Arthrogryposis multiplex congenita

Criteria Provided
Single Submitter

CA388704839

rs_1594616249

1 SubmittersRCV000855467

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

SNV
Unknown

Chr13:101395283

Likely pathogenic

Fetal akinesia deformation sequence 1
Arthrogryposis multiplex congenita

Criteria Provided
Single Submitter

CA7036526

rs_762389271

1 SubmittersRCV000855469

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

SNV
Germline

Chr14:102033428

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7353397

rs_778115137

2 SubmittersRCV000855520 RCV001366306

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

SNV
Germline

Chr14:102043961

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA488186538

rs_1595633027

2 SubmittersRCV000855523 RCV001367404

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

SNV
Germline

Chr16:23535032

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7962501

rs_749912939

4 SubmittersRCV000855494 RCV001310323 RCV005359607

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

SNV
Germline

Chr17:42683822

Pathogenic

Fetal akinesia deformation sequence 1
Arthrogryposis multiplex congenita

Criteria Provided
Single Submitter

CA399632041

rs_1597802927

1 SubmittersRCV000855460

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

SNV
Germline

Chr17:42690789

Likely pathogenic

Fetal akinesia deformation sequence 1
Arthrogryposis multiplex congenita

Criteria Provided
Single Submitter

CA399642944

rs_1597807901

1 SubmittersRCV000855461

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

SNV
Unknown

Chr17:63959266

Likely pathogenic

Fetal akinesia deformation sequence 1
Arthrogryposis multiplex congenita

Criteria Provided
Single Submitter

CA400631560

rs_1597978607

1 SubmittersRCV000855486

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

SNV
Unknown

Chr18:10855359

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8892803

rs_773449118

2 SubmittersRCV000855471 RCV003147564

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

SNV
Germline

Chr19:35126538

Likely pathogenic

Fetal akinesia deformation sequence 1
Arthrogryposis multiplex congenita

Criteria Provided
Single Submitter

CA405305171

rs_1201430967

1 SubmittersRCV000855466

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

SNV
Germline

Chr19:35131510

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9373323

rs_201728190

2 SubmittersRCV000855465 RCV004820124

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

SNV
Unknown

Chr19:38457540

Likely pathogenic

Fetal akinesia deformation sequence 1
Arthrogryposis multiplex congenita

Criteria Provided
Single Submitter

CA405693870

rs_1600682739

1 SubmittersRCV000855481

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

SNV
Unknown

Chr19:38458292

Likely pathogenic

Fetal akinesia deformation sequence 1
Arthrogryposis multiplex congenita

Criteria Provided
Single Submitter

CA062941

rs_755496104

1 SubmittersRCV000855475

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

SNV
Germline

Chr19:38499991

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA405669567

rs_1600822174

3 SubmittersRCV000855484 RCV002275162 RCV003117621

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

SNV
Germline

Chr19:38504317

Likely pathogenic

Fetal akinesia deformation sequence 1
Arthrogryposis multiplex congenita
Centronuclear myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA405676016

rs_1600843056

2 SubmittersRCV000855478 RCV004586957

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

SNV
Germline

Chr19:38517691

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA405693508

rs_1600892115

2 SubmittersRCV000855480 RCV004803279

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

SNV
Unknown

Chr19:38572270

Likely pathogenic

Fetal akinesia deformation sequence 1
Arthrogryposis multiplex congenita

Criteria Provided
Single Submitter

CA507356267

rs_1599649479

1 SubmittersRCV000855483

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

SNV
Germline

ChrX:153536444

Likely pathogenic

Fetal akinesia deformation sequence 1
Arthrogryposis multiplex congenita

Criteria Provided
Single Submitter

CA415073373

rs_1603040061

1 SubmittersRCV000855493

NM_173660.5(DOK7):c.641C>T (p.Pro214Leu)

SNV
Germline

Chr4:3485647

Conflicting classifications of pathogenicity

Congenital myasthenic syndrome 10
Fetal akinesia deformation sequence 1
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2829097

rs_147760280

4 SubmittersRCV000876533 RCV001560296 RCV004973126

NM_173660.5(DOK7):c.665C>T (p.Pro222Leu)

SNV
Germline

Chr4:3489689

Conflicting classifications of pathogenicity

Condition: not provided
Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 10
DOK7-related disorder

Criteria Provided
Conflicting Classifications

CA2829140

rs_141141719

4 SubmittersRCV001257176 RCV001412570 RCV003928803

NM_173660.5(DOK7):c.975G>A (p.Arg325=)

SNV
Germline

Chr4:3492961

Conflicting classifications of pathogenicity

Congenital myasthenic syndrome 10
Fetal akinesia deformation sequence 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2829316

rs_370661591

2 SubmittersRCV000874905 RCV003145219

NM_173660.5(DOK7):c.1480G>A (p.Val494Ile)

SNV
Germline

Chr4:3493466

Conflicting classifications of pathogenicity

Congenital myasthenic syndrome 10
Fetal akinesia deformation sequence 1
Condition: not provided
DOK7-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2829544

rs_202073484

5 SubmittersRCV000873918 RCV001566050 RCV003965763 RCV004027836

NM_005592.4(MUSK):c.549A>G (p.Glu183=)

SNV
Germline

Chr9:110697387

Conflicting classifications of pathogenicity

Congenital myasthenic syndrome 9
Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 9
not specified
MUSK-related disorder

Criteria Provided
Conflicting Classifications

CA5184045

rs_369254308

4 SubmittersRCV001168570 RCV001425565 RCV003396522 RCV004538309

NM_005592.4(MUSK):c.1683G>A (p.Leu561=)

SNV
Germline

Chr9:110785623

Conflicting classifications of pathogenicity

Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 9
Congenital myasthenic syndrome 9
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5184424

rs_192173278

3 SubmittersRCV000876872 RCV001166933 RCV003432851

NM_005055.5(RAPSN):c.1190G>A (p.Arg397Gln)

SNV
Germline

Chr11:47438024

Conflicting classifications of pathogenicity

Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 11
Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 11
Congenital myasthenic syndrome
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5976454

rs_139398367

6 SubmittersRCV000950989 RCV001103493 RCV001103494 RCV001274399 RCV001772173 RCV002546024

NM_005055.5(RAPSN):c.61C>T (p.Gln21Ter)

SNV
Germline

Chr11:47448904

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA380337032

rs_1595903667

4 SubmittersRCV000988562 RCV001225209 RCV001836056 RCV003467548

NM_181789.4(GLDN):c.1093C>T (p.Leu365Phe)

SNV
Germline

Chr15:51401658

Likely pathogenic

Fetal akinesia deformation sequence 1

No Assertion Criteria Provided

CA7560672

rs_376573993

1 SubmittersRCV001842583

NM_173660.5(DOK7):c.193C>T (p.Leu65=)

SNV
Germline

Chr4:3473498

Conflicting classifications of pathogenicity

Fetal akinesia deformation sequence 3
Congenital myasthenic syndrome 10
Congenital myasthenic syndrome 10
Fetal akinesia deformation sequence 1

Criteria Provided
Conflicting Classifications

CA2828904

rs_546630800

2 SubmittersRCV002480442 RCV001071236

NM_173660.5(DOK7):c.457A>T (p.Lys153Ter)

SNV
Germline

Chr4:3476467

Pathogenic

Congenital myasthenic syndrome 10
Fetal akinesia deformation sequence 1

Criteria Provided
Single Submitter

CA356114371

rs_1727096342

1 SubmittersRCV001058195

NM_173660.5(DOK7):c.956C>A (p.Pro319His)

SNV
Germline

Chr4:3492942

Conflicting classifications of pathogenicity

Congenital myasthenic syndrome 10
Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 10
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2829300

rs_376334067

5 SubmittersRCV001044290 RCV002227506 RCV002552548 RCV005056822

NM_005592.4(MUSK):c.496C>T (p.Arg166Ter)

SNV
Germline

Chr9:110697334

Pathogenic

Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 9

Criteria Provided
Single Submitter

CA5184037

rs_763656507

1 SubmittersRCV001053740

NM_005592.4(MUSK):c.1862C>T (p.Ala621Val)

SNV
Germline

Chr9:110787773

Conflicting classifications of pathogenicity

Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 9
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5184490

rs_777853943

2 SubmittersRCV001054930 RCV004031737

NM_005592.4(MUSK):c.2165T>C (p.Val722Ala)

SNV
Germline

Chr9:110800543

Pathogenic

Congenital myasthenic syndrome 9
Fetal akinesia deformation sequence 1

Criteria Provided
Single Submitter

CA374478388

rs_1238400476

1 SubmittersRCV001064003

NM_005592.4(MUSK):c.2461C>T (p.Leu821Phe)

SNV
Germline

Chr9:110800839

Conflicting classifications of pathogenicity

Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 9
Condition: not provided

Criteria Provided
Conflicting Classifications

CA374479832

rs_2078085499

2 SubmittersRCV001044287 RCV003132163

NM_005055.5(RAPSN):c.997G>C (p.Glu333Gln)

SNV
Germline

Chr11:47438901

Conflicting classifications of pathogenicity

Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 11
Congenital myasthenic syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5976531

rs_201947904

3 SubmittersRCV001054429 RCV001275243 RCV003132181

NM_005055.5(RAPSN):c.493G>A (p.Val165Met)

SNV
Germline

Chr11:47447850

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA5976731

rs_761584017

8 SubmittersRCV001061762 RCV001832551 RCV001508667 RCV003462591 RCV005049755

NM_005055.5(RAPSN):c.425C>A (p.Ala142Asp)

SNV
Germline

Chr11:47447918

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA5976746

rs_368695664

6 SubmittersRCV001066055 RCV001559969 RCV003467832 RCV005049757 RCV005432564

NM_173660.5(DOK7):c.773-2A>C

SNV
Germline

Chr4:3492757

Likely pathogenic

Congenital myasthenic syndrome 10
Fetal akinesia deformation sequence 1

Criteria Provided
Single Submitter

CA356115883

rs_1229979805

1 SubmittersRCV001058583

NM_173660.5(DOK7):c.773-1G>A

SNV
Germline

Chr4:3492758

Likely pathogenic

Congenital myasthenic syndrome 10
Fetal akinesia deformation sequence 1

Criteria Provided
Single Submitter

CA356115884

rs_1268475752

1 SubmittersRCV001041551

NM_005592.4(MUSK):c.1277T>C (p.Met426Thr)

SNV
Germline

Chr9:110775880

Conflicting classifications of pathogenicity

Condition: not provided
Congenital myasthenic syndrome 9
Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 9

Criteria Provided
Conflicting Classifications

CA5184317

rs_368044285

3 SubmittersRCV001093097 RCV001166930 RCV002069614

NM_005055.5(RAPSN):c.1212C>T (p.Arg404=)

SNV
Germline

Chr11:47438002

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA474217213

rs_2076326463

2 SubmittersRCV001103492 RCV001103491 RCV001414396

NM_005055.5(RAPSN):c.457G>T (p.Ala153Ser)

SNV
Germline

Chr11:47447886

Conflicting classifications of pathogenicity

Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 11
Congenital myasthenic syndrome 11
Fetal akinesia deformation sequence 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5976740

rs_142635726

3 SubmittersRCV001105499 RCV001105498 RCV002558054 RCV003142048

NM_005055.5(RAPSN):c.364G>A (p.Gly122Arg)

SNV
Germline

Chr11:47447979

Conflicting classifications of pathogenicity

Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 11
Congenital myasthenic syndrome
Congenital myasthenic syndrome 11
Fetal akinesia deformation sequence 2
Congenital myasthenic syndrome 11
Fetal akinesia deformation sequence 1
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5976756

rs_150756111

6 SubmittersRCV001106664 RCV001106665 RCV001279260 RCV002505680 RCV002556089 RCV002556090 RCV003490075

NM_005055.5(RAPSN):c.912+9G>T

SNV
Germline

Chr11:47441602

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1139661958

rs_751790521

2 SubmittersRCV001106551 RCV001106550 RCV003769096

NM_005055.5(RAPSN):c.912+9G>A

SNV
Germline

Chr11:47441602

Conflicting classifications of pathogenicity

Congenital myasthenic syndrome 11
Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 11
Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome
RAPSN-related disorder

Criteria Provided
Conflicting Classifications

CA5976590

rs_751790521

4 SubmittersRCV001106553 RCV001106552 RCV001243852 RCV001833706 RCV004538329

NM_005592.4(MUSK):c.1446C>G (p.Ser482=)

SNV
Germline

Chr9:110784876

Conflicting classifications of pathogenicity

Congenital myasthenic syndrome 9
Congenital myasthenic syndrome 9
Fetal akinesia deformation sequence 1

Criteria Provided
Conflicting Classifications

CA466686042

rs_754903785

2 SubmittersRCV001166932 RCV003769809

NM_005592.4(MUSK):c.486+15T>C

SNV
Germline

Chr9:110695545

Conflicting classifications of pathogenicity

Congenital myasthenic syndrome 9
Congenital myasthenic syndrome 9
Fetal akinesia deformation sequence 1

Criteria Provided
Conflicting Classifications

CA5184019

rs_369902312

2 SubmittersRCV001168568 RCV002557451

NM_005592.4(MUSK):c.913+10C>G

SNV
Germline

Chr9:110747810

Conflicting classifications of pathogenicity

Congenital myasthenic syndrome 9
Congenital myasthenic syndrome 9
Fetal akinesia deformation sequence 1

Criteria Provided
Conflicting Classifications

CA5184205

rs_761707078

2 SubmittersRCV001169339 RCV002068038

NM_005592.4(MUSK):c.914-14T>G

SNV
Germline

Chr9:110762188

Conflicting classifications of pathogenicity

Congenital myasthenic syndrome 9
Congenital myasthenic syndrome 9
Fetal akinesia deformation sequence 1

Criteria Provided
Conflicting Classifications

CA5184225

rs_146206123

2 SubmittersRCV001169340 RCV002067836

NM_173660.5(DOK7):c.230C>T (p.Thr77Met)

SNV
Germline

Chr4:3473535

Conflicting classifications of pathogenicity

Congenital myasthenic syndrome 10
Fetal akinesia deformation sequence 1
DOK7-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA91528915

rs_940346413

4 SubmittersRCV001223702 RCV004753240 RCV003236878

NM_173660.5(DOK7):c.480C>A (p.Tyr160Ter)

SNV
Germline

Chr4:3476490

Pathogenic

Congenital myasthenic syndrome 10
Fetal akinesia deformation sequence 1
Condition: not provided
Fetal akinesia deformation sequence 3
DOK7-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA356114414

rs_550024569

4 SubmittersRCV001222325 RCV001780148 RCV003462755 RCV004753239

NM_173660.5(DOK7):c.839G>A (p.Arg280Gln)

SNV
Germline

Chr4:3492825

Conflicting classifications of pathogenicity

Inborn genetic diseases
Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 10

Criteria Provided
Conflicting Classifications

CA2829246

rs_144269117

2 SubmittersRCV004619563 RCV001221305

NM_005592.4(MUSK):c.1735A>T (p.Arg579Ter)

SNV
Germline

Chr9:110785675

Pathogenic

Congenital myasthenic syndrome 9
Fetal akinesia deformation sequence 1

Criteria Provided
Single Submitter

CA5184437

rs_752798426

1 SubmittersRCV001218791

NM_005055.5(RAPSN):c.1065C>A (p.Cys355Ter)

SNV
Germline

Chr11:47438833

Pathogenic

Congenital myasthenic syndrome 11
Fetal akinesia deformation sequence 1

Criteria Provided
Single Submitter

CA380327642

rs_763094966

1 SubmittersRCV001219154

NM_173660.5(DOK7):c.415G>C (p.Val139Leu)

SNV
Germline

Chr4:3476425

Likely pathogenic

Congenital myasthenic syndrome 10
Fetal akinesia deformation sequence 1
Fetal akinesia deformation sequence 3
Congenital myasthenic syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA356114281

rs_571769859

3 SubmittersRCV001213559 RCV003469358 RCV005057105

NM_173660.5(DOK7):c.496G>A (p.Gly166Arg)

SNV
Germline

Chr4:3476506

Conflicting classifications of pathogenicity

Congenital myasthenic syndrome 10
Fetal akinesia deformation sequence 1
Fetal akinesia deformation sequence 3
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2829014

rs_781227659

4 SubmittersRCV001212330 RCV003469353 RCV004690017 RCV005411677

NM_005055.5(RAPSN):c.358C>T (p.Gln120Ter)

SNV
Germline

Chr11:47447985

Pathogenic

Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 11

Criteria Provided
Single Submitter

CA380334282

rs_2076422949

1 SubmittersRCV001209146

NM_173660.5(DOK7):c.1318G>A (p.Ala440Thr)

SNV
Germline

Chr4:3493304

Conflicting classifications of pathogenicity

Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 10
Condition: not provided
Congenital myasthenic syndrome 10
Fetal akinesia deformation sequence 3

Criteria Provided
Conflicting Classifications

CA2829462

rs_753026831

3 SubmittersRCV001246102 RCV003145485 RCV004727043

NM_173660.5(DOK7):c.313C>T (p.Arg105Cys)

SNV
Germline

Chr4:3473618

Conflicting classifications of pathogenicity

Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 10
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2828927

rs_115883468

2 SubmittersRCV001325188 RCV002546126

NM_173660.5(DOK7):c.652+5G>A

SNV
Germline

Chr4:3485663

Conflicting classifications of pathogenicity

Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 10
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2829104

rs_772918388

2 SubmittersRCV001324458 RCV002509662

NM_005592.4(MUSK):c.397A>G (p.Ile133Val)

SNV
Germline

Chr9:110695441

Conflicting classifications of pathogenicity

Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 9
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5184006

rs_570136508

3 SubmittersRCV001314135 RCV002543637 RCV003132398

NM_173660.5(DOK7):c.752C>A (p.Ala251Glu)

SNV
Germline

Chr4:3489776

Conflicting classifications of pathogenicity

Congenital myasthenic syndrome 10
Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 10
Inborn genetic diseases
DOK7-related disorder

Criteria Provided
Conflicting Classifications

CA2829168

rs_376251309

4 SubmittersRCV001328763 RCV001360948 RCV002546275 RCV004753286

NM_005592.4(MUSK):c.79+11G>A

SNV
Germline

Chr9:110668994

Conflicting classifications of pathogenicity

Fetal akinesia deformation sequence 1
Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 9

Criteria Provided
Conflicting Classifications

CA5183903

rs_139516442

2 SubmittersRCV001335300 RCV002070199

NM_173660.5(DOK7):c.919G>C (p.Ala307Pro)

SNV
Germline

Chr4:3492905

Conflicting classifications of pathogenicity

Congenital myasthenic syndrome 10
Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 10
Fetal akinesia deformation sequence 3
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA356116347

rs_150415034

3 SubmittersRCV001352321 RCV001824956 RCV005330744

NM_173660.5(DOK7):c.1503C>A (p.Asn501Lys)

SNV
Germline

Chr4:3493489

Conflicting classifications of pathogenicity

Congenital myasthenic syndrome 10
Fetal akinesia deformation sequence 1
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2829553

rs_750262940

3 SubmittersRCV001351240 RCV003145607 RCV003169743

NM_173660.5(DOK7):c.332-1G>T

SNV
Germline

Chr4:3476341

Likely pathogenic

Congenital myasthenic syndrome 10
Fetal akinesia deformation sequence 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA356114065

rs_1490214819

2 SubmittersRCV001376831 RCV004793470

NM_005055.5(RAPSN):c.531+1G>T

SNV
Germline

Chr11:47447811

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA380333475

rs_1421354085

5 SubmittersRCV001379323 RCV001826152 RCV001563594 RCV003462961 RCV005050365

NM_173660.5(DOK7):c.1267C>T (p.Gln423Ter)

SNV
Germline

Chr4:3493253

Pathogenic/Likely pathogenic

Congenital myasthenic syndrome 10
Fetal akinesia deformation sequence 1
Fetal akinesia deformation sequence 3

Criteria Provided
Multiple Submitters
No Conflicts

CA356117660

rs_1728650830

2 SubmittersRCV001387589 RCV003469734

NM_173660.5(DOK7):c.1387G>T (p.Glu463Ter)

SNV
Germline

Chr4:3493373

Pathogenic

Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 10

Criteria Provided
Single Submitter

CA356117874

rs_745941308

1 SubmittersRCV001381053

NM_005055.5(RAPSN):c.838G>T (p.Gly280Ter)

SNV
Germline

Chr11:47441685

Pathogenic

Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 11

Criteria Provided
Single Submitter

CA380329470

rs_1262674788

1 SubmittersRCV001390845

NM_005055.5(RAPSN):c.599G>A (p.Trp200Ter)

SNV
Germline

Chr11:47442747

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA380332256

rs_1595899478

2 SubmittersRCV001385002 RCV003463001

NM_005055.5(RAPSN):c.418C>T (p.Gln140Ter)

SNV
Germline

Chr11:47447925

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA380334025

rs_2153311231

2 SubmittersRCV001382472 RCV003469677

NM_005055.5(RAPSN):c.291C>A (p.Cys97Ter)

SNV
Germline

Chr11:47448052

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA221722215

rs_749287203

5 SubmittersRCV001387007 RCV005050369 RCV001780357 RCV001826172

NM_173660.5(DOK7):c.816C>G (p.His272Gln)

SNV
Germline

Chr4:3492802

Conflicting classifications of pathogenicity

Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 10
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2829236

rs_115614731

3 SubmittersRCV001484179 RCV001751773 RCV005330868

NM_005055.5(RAPSN):c.679G>T (p.Glu227Ter)

SNV
Germline

Chr11:47442667

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA380331566

rs_2153309050

3 SubmittersRCV001868867 RCV005050409 RCV001783664

NM_005055.5(RAPSN):c.272G>C (p.Arg91Pro)

SNV
Germline

Chr11:47448071

Likely pathogenic

Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 11

Criteria Provided
Single Submitter

CA380334774

rs_375218091

1 SubmittersRCV002034290

NM_005592.4(MUSK):c.2170C>T (p.Arg724Ter)

SNV
Germline

Chr9:110800548

Pathogenic

Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 9

Criteria Provided
Single Submitter

CA374478415

rs_1255531873

1 SubmittersRCV001994540

NM_005055.5(RAPSN):c.318C>A (p.Cys106Ter)

SNV
Germline

Chr11:47448025

Pathogenic

Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 11

Criteria Provided
Single Submitter

CA380334470

rs_2076423585

1 SubmittersRCV001929616

NM_005055.5(RAPSN):c.490C>G (p.Arg164Gly)

SNV
Germline

Chr11:47447853

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA380333737

rs_104894294

2 SubmittersRCV001938528 RCV004801090

NM_005055.5(RAPSN):c.712C>T (p.Gln238Ter)

SNV
Germline

Chr11:47441900

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA380330446

rs_2076368388

2 SubmittersRCV001923478 RCV003464238

NM_173660.5(DOK7):c.773-2A>T

SNV
Germline

Chr4:3492757

Likely pathogenic

Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 10

Criteria Provided
Single Submitter

CA356115881

rs_1229979805

1 SubmittersRCV001893087

NM_005592.4(MUSK):c.1744G>A (p.Gly582Arg)

SNV
Germline

Chr9:110785684

Conflicting classifications of pathogenicity

Congenital myasthenic syndrome 9
Fetal akinesia deformation sequence 1
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA5184439

rs_202126269

4 SubmittersRCV002012049 RCV003130632 RCV004587265

NM_005055.5(RAPSN):c.272G>A (p.Arg91His)

SNV
Germline

Chr11:47448071

Likely pathogenic

Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 11

Criteria Provided
Single Submitter

CA5976767

rs_375218091

1 SubmittersRCV001892251

NM_173660.5(DOK7):c.299G>A (p.Trp100Ter)

SNV
Germline

Chr4:3473604

Pathogenic

Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 10

Criteria Provided
Single Submitter

CA356113696

rs_2109336441

1 SubmittersRCV002000087

NM_005055.5(RAPSN):c.872G>C (p.Gly291Ala)

SNV
Germline

Chr11:47441651

Likely pathogenic

Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 11

Criteria Provided
Single Submitter

CA380329137

rs_374604570

1 SubmittersRCV002018846

NM_173660.5(DOK7):c.332-1G>A

SNV
Germline

Chr4:3476341

Likely pathogenic

Congenital myasthenic syndrome 10
Fetal akinesia deformation sequence 1
Fetal akinesia deformation sequence 3

Criteria Provided
Multiple Submitters
No Conflicts

CA356114061

rs_1490214819

2 SubmittersRCV002037309 RCV003464158

NM_173660.5(DOK7):c.396C>G (p.His132Gln)

SNV
Germline

Chr4:3476406

Likely pathogenic

Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 10

Criteria Provided
Single Submitter

CA356114241

rs_779798129

1 SubmittersRCV001929294

NM_005055.5(RAPSN):c.537C>A (p.Tyr179Ter)

SNV
Germline

Chr11:47442809

Pathogenic

Congenital myasthenic syndrome 11
Fetal akinesia deformation sequence 1

Criteria Provided
Single Submitter

CA380332505

rs_1015604630

1 SubmittersRCV001899155

NM_173660.5(DOK7):c.436C>T (p.Pro146Ser)

SNV
Germline

Chr4:3476446

Likely pathogenic

Congenital myasthenic syndrome 10
Fetal akinesia deformation sequence 1

Criteria Provided
Single Submitter

CA356114329

rs_1727094027

1 SubmittersRCV002030635

NM_173660.5(DOK7):c.1327C>T (p.Pro443Ser)

SNV
Germline

Chr4:3493313

Conflicting classifications of pathogenicity

Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 10
Congenital myasthenic syndrome 10
Fetal akinesia deformation sequence 3

Criteria Provided
Conflicting Classifications

CA91557425

rs_748946433

2 SubmittersRCV002042295 RCV004728856

NM_005055.5(RAPSN):c.7C>T (p.Gln3Ter)

SNV
Germline

Chr11:47448958

Pathogenic

Congenital myasthenic syndrome 11
Fetal akinesia deformation sequence 1

Criteria Provided
Single Submitter

CA380337433

rs_2076433607

1 SubmittersRCV001909290

NM_005592.4(MUSK):c.1778+1G>T

SNV
Germline

Chr9:110785719

Likely pathogenic

Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 9

Criteria Provided
Single Submitter

CA374476013

rs_2132026515

1 SubmittersRCV002021473

NM_005592.4(MUSK):c.112G>T (p.Asp38Tyr)

SNV
Germline

Chr9:110682706

Likely pathogenic

Fetal akinesia deformation sequence 1

Criteria Provided
Single Submitter

CA374669811

rs_1412657094

1 SubmittersRCV002269798

NM_173660.5(DOK7):c.414C>T (p.Leu138=)

SNV
Germline

Chr4:3476424

Likely pathogenic

Condition: not provided
Fetal akinesia deformation sequence 3
Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 10
Congenital myasthenic syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA2828993

rs_771995943

4 SubmittersRCV002281329 RCV003471305 RCV003774920 RCV003331339

NM_005055.5(RAPSN):c.280G>A (p.Glu94Lys)

SNV
Germline

Chr11:47448063

Conflicting classifications of pathogenicity

not specified
Congenital myasthenic syndrome 11
Fetal akinesia deformation sequence 1
Condition: not provided
RAPSN-related disorder
Fetal akinesia deformation sequence 2

Criteria Provided
Conflicting Classifications

CA5976766

rs_200550567

6 SubmittersRCV002281800 RCV003101625 RCV003134420 RCV003336519 RCV003464433

NM_005592.4(MUSK):c.2358G>A (p.Trp786Ter)

SNV
Germline

Chr9:110800736

Pathogenic

Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 9

Criteria Provided
Single Submitter

CA374479440

rs_867146882

1 SubmittersRCV003066491

NM_005055.5(RAPSN):c.973C>T (p.Gln325Ter)

SNV
Germline

Chr11:47438925

Pathogenic

Congenital myasthenic syndrome 11
Fetal akinesia deformation sequence 1

Criteria Provided
Single Submitter

CA380327912

rs_1217462358

1 SubmittersRCV003062376

NM_005055.5(RAPSN):c.1166+2T>G

SNV
Germline

Chr11:47438730

Pathogenic

Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 11

Criteria Provided
Single Submitter

CA221713977

rs_748561503

1 SubmittersRCV003091624

NM_005055.5(RAPSN):c.1166+1G>C

SNV
Germline

Chr11:47438731

Pathogenic

Congenital myasthenic syndrome 11
Fetal akinesia deformation sequence 1

Criteria Provided
Single Submitter

CA380326993

rs_1325133502

1 SubmittersRCV003079119

NM_005055.5(RAPSN):c.133G>T (p.Val45Leu)

SNV
Germline

Chr11:47448832

Likely pathogenic

Congenital myasthenic syndrome 11
Fetal akinesia deformation sequence 1

Criteria Provided
Single Submitter

CA221723367

rs_121909254

1 SubmittersRCV002579002

NM_005055.5(RAPSN):c.3G>T (p.Met1Ile)

SNV
Germline

Chr11:47448962

Pathogenic

Congenital myasthenic syndrome 11
Fetal akinesia deformation sequence 1

Criteria Provided
Single Submitter

CA380337460

rs_2496138843

1 SubmittersRCV003090311

NM_173660.5(DOK7):c.1285A>G (p.Ser429Gly)

SNV
Germline

Chr4:3493271

Conflicting classifications of pathogenicity

Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 10
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA356117694

rs_1166517627

2 SubmittersRCV002588629 RCV005333516

NM_005055.5(RAPSN):c.1166+1G>T

SNV
Germline

Chr11:47438731

Pathogenic

Congenital myasthenic syndrome 11
Fetal akinesia deformation sequence 1

Criteria Provided
Single Submitter

CA380326991

rs_1325133502

1 SubmittersRCV003121739

NM_005592.4(MUSK):c.920+1G>A

SNV
Germline

Chr9:110762209

Likely pathogenic

Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 9

Criteria Provided
Single Submitter

CA374466990

rs_1220602405

1 SubmittersRCV003104206

NM_173660.5(DOK7):c.473G>A (p.Arg158Gln)

SNV
Germline

Chr4:3476483

Pathogenic

Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 10

Criteria Provided
Single Submitter

CA2829007

rs_754633490

1 SubmittersRCV002671810

NM_005592.4(MUSK):c.1184+2T>C

SNV
Germline

Chr9:110768085

Likely pathogenic

Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 9

Criteria Provided
Single Submitter

CA5184283

rs_532285449

1 SubmittersRCV002745770

NM_173660.5(DOK7):c.873A>G (p.Ser291=)

SNV
Germline

Chr4:3492859

Conflicting classifications of pathogenicity

Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 10
Condition: not provided

Criteria Provided
Conflicting Classifications

CA438362577

rs_768322699

2 SubmittersRCV002776484 RCV003146640

NM_005055.5(RAPSN):c.22C>T (p.Gln8Ter)

SNV
Germline

Chr11:47448943

Pathogenic

Congenital myasthenic syndrome 11
Fetal akinesia deformation sequence 1

Criteria Provided
Single Submitter

CA380337332

rs_11556408

1 SubmittersRCV002792011

NM_005055.5(RAPSN):c.1A>G (p.Met1Val)

SNV
Germline

Chr11:47448964

Pathogenic

Congenital myasthenic syndrome 11
Fetal akinesia deformation sequence 1

Criteria Provided
Single Submitter

CA380337470

rs_2496138853

1 SubmittersRCV002810112

NM_005592.4(MUSK):c.1466C>G (p.Ser489Ter)

SNV
Germline

Chr9:110784896

Pathogenic

Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 9

Criteria Provided
Single Submitter

CA374474971

rs_2491146787

1 SubmittersRCV002880647

NM_173660.5(DOK7):c.379G>A (p.Gly127Ser)

SNV
Germline

Chr4:3476389

Conflicting classifications of pathogenicity

Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 10
Fetal akinesia deformation sequence 3
Congenital myasthenic syndrome
Congenital myasthenic syndrome 10

Criteria Provided
Conflicting Classifications

CA2828984

rs_763494431

4 SubmittersRCV002876544 RCV004571404 RCV004765582 RCV005409895

NM_173660.5(DOK7):c.1262C>G (p.Pro421Arg)

SNV
Germline

Chr4:3493248

Conflicting classifications of pathogenicity

Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 10
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2829435

rs_373261147

2 SubmittersRCV002923128 RCV004790283

NM_005055.5(RAPSN):c.724C>T (p.Arg242Trp)

SNV
Germline

Chr11:47441888

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA221716778

rs_1005550058

2 SubmittersRCV002923133 RCV003464639

NM_005592.4(MUSK):c.1555C>T (p.Arg519Ter)

SNV
Germline

Chr9:110784985

Pathogenic

Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 9

Criteria Provided
Single Submitter

CA374475403

rs_2491147739

1 SubmittersRCV002999013

NM_005055.5(RAPSN):c.79C>T (p.Gln27Ter)

SNV
Germline

Chr11:47448886

Pathogenic

Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 11

Criteria Provided
Single Submitter

CA380336953

rs_2076432332

1 SubmittersRCV003023050

NM_173660.5(DOK7):c.332-1G>C

SNV
Germline

Chr4:3476341

Likely pathogenic

Condition: not provided
Congenital myasthenic syndrome 10
Fetal akinesia deformation sequence 1
Fetal akinesia deformation sequence 3

Criteria Provided
Multiple Submitters
No Conflicts

CA356114063

rs_1490214819

3 SubmittersRCV003144810 RCV003778833 RCV004577034

NM_005592.4(MUSK):c.1185-24T>A

SNV
Germline

Chr9:110775764

Conflicting classifications of pathogenicity

Condition: not provided
Congenital myasthenic syndrome 9
Fetal akinesia deformation sequence 1

Criteria Provided
Conflicting Classifications

CA5184297

rs_376856980

2 SubmittersRCV003132711 RCV004725650

NM_005055.5(RAPSN):c.913-1G>C

SNV
Germline

Chr11:47441213

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA380328783

rs_2496097284

2 SubmittersRCV003471789 RCV003779090

NM_005055.5(RAPSN):c.192+2T>G

SNV
Germline

Chr11:47448771

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA380335601

rs_2496136668

3 SubmittersRCV003463456 RCV004593294 RCV003779091

NM_173660.5(DOK7):c.773-1G>C

SNV
Germline

Chr4:3492758

Likely pathogenic

Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 10

Criteria Provided
Single Submitter

CA356115885

rs_1268475752

1 SubmittersRCV003782020

NM_173660.5(DOK7):c.332-2A>G

SNV
Germline

Chr4:3476340

Likely pathogenic

Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 10

Criteria Provided
Single Submitter

CA356114057

rs_1480670755

1 SubmittersRCV003782240

NM_173660.5(DOK7):c.190G>C (p.Gly64Arg)

SNV
Germline

Chr4:3473495

Likely pathogenic

Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 10

Criteria Provided
Single Submitter

CA356113311

rs_1246160310

1 SubmittersRCV003796003

NM_005592.4(MUSK):c.207-1G>A

SNV
Germline

Chr9:110687116

Likely pathogenic

Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 9

Criteria Provided
Single Submitter

CA374664135

rs_2490594673

1 SubmittersRCV003783067

NM_173660.5(DOK7):c.1236C>A (p.Cys412Ter)

SNV
Germline

Chr4:3493222

Pathogenic

Congenital myasthenic syndrome 10
Fetal akinesia deformation sequence 1
Fetal akinesia deformation sequence 3

Criteria Provided
Multiple Submitters
No Conflicts

CA356117608

rs_556834250

2 SubmittersRCV003781026 RCV004573305

NM_173660.5(DOK7):c.1378C>T (p.Gln460Ter)

SNV
Germline

Chr4:3493364

Pathogenic

Congenital myasthenic syndrome 10
Fetal akinesia deformation sequence 1
Fetal akinesia deformation sequence 3

Criteria Provided
Multiple Submitters
No Conflicts

CA356117858

rs_1355424790

2 SubmittersRCV003781027 RCV004573306

NM_005592.4(MUSK):c.461G>A (p.Trp154Ter)

SNV
Germline

Chr9:110695505

Pathogenic

Congenital myasthenic syndrome 9
Fetal akinesia deformation sequence 1

Criteria Provided
Single Submitter

CA198339781

rs_866186589

1 SubmittersRCV003795734

NM_005592.4(MUSK):c.1360+1G>A

SNV
Germline

Chr9:110775964

Likely pathogenic

Congenital myasthenic syndrome 9
Fetal akinesia deformation sequence 1

Criteria Provided
Single Submitter

CA374473428

rs_2491098868

1 SubmittersRCV003793156

NM_005592.4(MUSK):c.1185-2A>G

SNV
Germline

Chr9:110775786

Likely pathogenic

Congenital myasthenic syndrome 9
Fetal akinesia deformation sequence 1

Criteria Provided
Single Submitter

CA374472566

rs_2491096235

1 SubmittersRCV003793173

NM_005055.5(RAPSN):c.691-1G>A

SNV
Germline

Chr11:47441922

Likely pathogenic

Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 11

Criteria Provided
Single Submitter

CA380330635

rs_2076368824

1 SubmittersRCV003780098

NM_005592.4(MUSK):c.1218C>A (p.Cys406Ter)

SNV
Germline

Chr9:110775821

Pathogenic

Congenital myasthenic syndrome 9
Fetal akinesia deformation sequence 1

Criteria Provided
Single Submitter

CA374472832

rs_368395413

1 SubmittersRCV003789269

NM_173660.5(DOK7):c.718C>T (p.Gln240Ter)

SNV
Germline

Chr4:3489742

Pathogenic

Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 10

Criteria Provided
Single Submitter

CA356115573

rs_1237414916

1 SubmittersRCV003790249

NM_005592.4(MUSK):c.1586+1G>A

SNV
Germline

Chr9:110785017

Likely pathogenic

Congenital myasthenic syndrome 9
Fetal akinesia deformation sequence 1

Criteria Provided
Multiple Submitters
No Conflicts

CA374475592

rs_2491148034

2 SubmittersRCV003790438

NM_005592.4(MUSK):c.2T>C (p.Met1Thr)

SNV
Germline

Chr9:110668906

Pathogenic

Condition: not provided
Congenital myasthenic syndrome 9
Fetal akinesia deformation sequence 1

Criteria Provided
Multiple Submitters
No Conflicts

CA374667961

rs_1416057660

2 SubmittersRCV005001446 RCV003796367

NM_005592.4(MUSK):c.754-1G>T

SNV
Germline

Chr9:110747640

Likely pathogenic

Congenital myasthenic syndrome 9
Fetal akinesia deformation sequence 1

Criteria Provided
Single Submitter

CA374668084

rs_2490938188

1 SubmittersRCV003793684

NM_005055.5(RAPSN):c.531+1G>A

SNV
Germline

Chr11:47447811

Pathogenic

Congenital myasthenic syndrome 11
Fetal akinesia deformation sequence 1

Criteria Provided
Single Submitter

CA380333479

rs_1421354085

1 SubmittersRCV003791216

NM_005592.4(MUSK):c.913+2T>C

SNV
Germline

Chr9:110747802

Likely pathogenic

Congenital myasthenic syndrome 9
Fetal akinesia deformation sequence 1

Criteria Provided
Single Submitter

CA5184204

rs_757030913

1 SubmittersRCV003800134

NM_005592.4(MUSK):c.206+2T>C

SNV
Germline

Chr9:110682802

Likely pathogenic

Congenital myasthenic syndrome 9
Fetal akinesia deformation sequence 1

Criteria Provided
Single Submitter

CA374670410

rs_2076149627

1 SubmittersRCV003798602

NM_173660.5(DOK7):c.674C>A (p.Ser225Ter)

SNV
Germline

Chr4:3489698

Pathogenic

Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 10

Criteria Provided
Single Submitter

CA356115360

rs_769699131

1 SubmittersRCV003801284

NM_173660.5(DOK7):c.28C>T (p.Gln10Ter)

SNV
Germline

Chr4:3463403

Pathogenic

Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 10

Criteria Provided
Single Submitter

CA356111983

rs_2474961706

1 SubmittersRCV003794863

NM_005055.5(RAPSN):c.888G>A (p.Trp296Ter)

SNV
Germline

Chr11:47441635

Pathogenic

Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 11

Criteria Provided
Single Submitter

CA380328989

rs_2496099950

1 SubmittersRCV003802714

NM_005055.5(RAPSN):c.733C>T (p.Gln245Ter)

SNV
Germline

Chr11:47441879

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA380330266

rs_2496102548

2 SubmittersRCV003801835 RCV004573334

NM_005592.4(MUSK):c.114T>A (p.Asp38Glu)

SNV
Germline

Chr9:110682708

Likely pathogenic

Congenital myasthenic syndrome 9
Fetal akinesia deformation sequence 1
MUSK-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA5183928

rs_775587809

2 SubmittersRCV003802057 RCV005407260

NM_173660.5(DOK7):c.852G>A (p.Trp284Ter)

SNV
Germline

Chr4:3492838

Pathogenic

Congenital myasthenic syndrome 10
Fetal akinesia deformation sequence 1

Criteria Provided
Single Submitter

CA356116090

rs_2475110229

1 SubmittersRCV003802250

NM_005055.5(RAPSN):c.885C>A (p.Cys295Ter)

SNV
Germline

Chr11:47441638

Pathogenic

Congenital myasthenic syndrome 11
Fetal akinesia deformation sequence 1

Criteria Provided
Single Submitter

CA380329013

rs_2496099964

1 SubmittersRCV003818016

NM_173660.5(DOK7):c.496G>T (p.Gly166Ter)

SNV
Germline

Chr4:3476506

Pathogenic

Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 10

Criteria Provided
Single Submitter

CA356114445

rs_781227659

1 SubmittersRCV003801737

NM_005055.5(RAPSN):c.177C>A (p.Tyr59Ter)

SNV
Germline

Chr11:47448788

Pathogenic

Congenital myasthenic syndrome 11
Fetal akinesia deformation sequence 1

Criteria Provided
Single Submitter

CA380335746

rs_2076431110

1 SubmittersRCV003809794

NM_173660.5(DOK7):c.958A>T (p.Lys320Ter)

SNV
Germline

Chr4:3492944

Pathogenic

Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 10

Criteria Provided
Single Submitter

CA356116503

rs_776722884

1 SubmittersRCV003813245

NM_005592.4(MUSK):c.790C>T (p.Arg264Ter)

SNV
Germline

Chr9:110747677

Pathogenic

Congenital myasthenic syndrome 9
Fetal akinesia deformation sequence 1

Criteria Provided
Single Submitter

CA5184185

rs_777482709

1 SubmittersRCV003812668

NM_005592.4(MUSK):c.2122C>T (p.Gln708Ter)

SNV
Germline

Chr9:110800500

Pathogenic

Congenital myasthenic syndrome 9
Fetal akinesia deformation sequence 1

Criteria Provided
Single Submitter

CA374478162

rs_2491210783

1 SubmittersRCV003810192

NM_005592.4(MUSK):c.1592C>G (p.Ser531Ter)

SNV
Germline

Chr9:110785532

Pathogenic

Congenital myasthenic syndrome 9
Fetal akinesia deformation sequence 1

Criteria Provided
Single Submitter

CA374475619

rs_2491151455

1 SubmittersRCV003810302

NM_005592.4(MUSK):c.967G>T (p.Glu323Ter)

SNV
Germline

Chr9:110767866

Pathogenic

Congenital myasthenic syndrome 9
Fetal akinesia deformation sequence 1

Criteria Provided
Single Submitter

1 SubmittersRCV005215022

NM_005592.4(MUSK):c.2268C>G (p.Tyr756Ter)

SNV
Germline

Chr9:110800646

Pathogenic

Congenital myasthenic syndrome 9
Fetal akinesia deformation sequence 1

Criteria Provided
Single Submitter

1 SubmittersRCV005215657

NM_173660.5(DOK7):c.100+1G>A

SNV
Germline

Chr4:3463552

Likely pathogenic

Congenital myasthenic syndrome 10
Fetal akinesia deformation sequence 1

Criteria Provided
Single Submitter

1 SubmittersRCV005216574

NM_173660.5(DOK7):c.318T>A (p.Tyr106Ter)

SNV
Germline

Chr4:3473623

Pathogenic

Congenital myasthenic syndrome 10
Fetal akinesia deformation sequence 1

Criteria Provided
Single Submitter

1 SubmittersRCV005228309

NM_005592.4(MUSK):c.358+2T>C

SNV
Germline

Chr9:110687270

Likely pathogenic

Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 9

Criteria Provided
Single Submitter

1 SubmittersRCV005362216

NM_005592.4(MUSK):c.541C>T (p.Gln181Ter)

SNV
Germline

Chr9:110697379

Likely pathogenic

Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 9

Criteria Provided
Single Submitter

1 SubmittersRCV005362217