Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_015559.3(SETBP1):c.2612T>C (p.Ile871Thr)	SNV Germline	Chr18:44951952	Pathogenic/Likely pathogenic	Schinzel-Giedion syndrome Condition: not provided Intellectual disability, autosomal dominant 29 Arthrogryposis multiplex congenita Fetal akinesia deformation sequence 1 SETBP1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA114715	rs_267607038	12 SubmittersRCV000001086 RCV000255245 RCV001007919 RCV000855501 RCV004532268
NM_173660.5(DOK7):c.601C>T (p.Arg201Ter)	SNV Germline	Chr4:3485607	Pathogenic	Congenital myasthenic syndrome 10 Condition: not provided Congenital myasthenic syndrome 10 Fetal akinesia deformation sequence 1 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 RCV001781161 RCV001851535 RCV005024984 RCV004566668
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 Fetal akinesia deformation sequence 1 Myopathy Congenital myasthenic syndrome Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 11 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	42 SubmittersRCV000008512 RCV000170316 RCV000224062 RCV000286918 RCV000414829 RCV000235028 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 Congenital myasthenic syndrome 11 Fetal akinesia deformation sequence 2 Abnormality of the musculature Fetal akinesia deformation sequence 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA212886	rs_786200905	11 SubmittersRCV000008517 RCV000235034 RCV000664547 RCV001824563 RCV001813966 RCV003460440 RCV006555284
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 1 RAPSN-related disorder Congenital myasthenic syndrome 11 Fetal akinesia deformation sequence 1 Fetal akinesia deformation sequence 2	Criteria Provided Conflicting Classifications	CA119255	rs_104894293	9 SubmittersRCV000008518 RCV000178899 RCV001255415 RCV001336781 RCV001731282 RCV002512911 RCV003460441
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 Fetal akinesia deformation sequence 2 Congenital myasthenic syndrome 11 Fetal akinesia deformation sequence 2	Criteria Provided Multiple Submitters No Conflicts	CA119256	rs_104894294	6 SubmittersRCV000008520 RCV000415079 RCV001343279 RCV003466839 RCV005049323
NM_005055.5(RAPSN):c.133G>A (p.Val45Met)	SNV Germline	Chr11:47448832	Pathogenic/Likely pathogenic	Congenital myasthenic syndrome 11 Congenital myasthenic syndrome 11 Fetal akinesia deformation sequence 1 Condition: not provided Congenital myasthenic syndrome Congenital myasthenic syndrome 11 Fetal akinesia deformation sequence 2 Fetal akinesia deformation sequence 2	Criteria Provided Multiple Submitters No Conflicts	CA119257	rs_121909254	10 SubmittersRCV000008521 RCV000704275 RCV000992743 RCV001275253 RCV002476946 RCV003460442
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 RAPSN-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA119258	rs_121909255	5 SubmittersRCV000008522 RCV001231489 RCV003460443 RCV005049324 RCV005632171
NM_005592.4(MUSK):c.2368G>A (p.Val790Met)	SNV Germline	Chr9:110800746	Conflicting classifications of pathogenicity	Congenital myasthenic syndrome 9 Condition: not provided Congenital myasthenic syndrome 9 Fetal akinesia deformation sequence 1 Fetal akinesia deformation sequence 1 MUSK-related disorder	Criteria Provided Conflicting Classifications	CA249734	rs_199476083	10 SubmittersRCV000008722 RCV000520620 RCV000701593 RCV001329438 RCV003492289
NM_005592.4(MUSK):c.1815G>A (p.Met605Ile)	SNV Germline	Chr9:110787726	Conflicting classifications of pathogenicity	Congenital myasthenic syndrome 9 Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 9 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	Gordon syndrome Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome Inborn genetic diseases Fetal akinesia deformation sequence 1 Arthrogryposis multiplex congenita Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome Gordon syndrome Condition: not provided Arthrogryposis, distal, with impaired proprioception and touch	Criteria Provided Multiple Submitters No Conflicts	CA090890	rs_587777450	15 SubmittersRCV000125478 RCV000224805 RCV000623552 RCV000855472 RCV003224865 RCV001091982 RCV003147342
NM_000540.3(RYR1):c.9579C>G (p.Cys3193Trp)	SNV Germline	Chr19:38516111	Conflicting classifications of pathogenicity	Condition: not provided Fetal akinesia deformation sequence 1 Arthrogryposis multiplex congenita RYR1-related disorder Central core myopathy Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA024994	rs_587784379	7 SubmittersRCV000147451 RCV000855485 RCV001036190 RCV001004921 RCV003998165
NM_000540.3(RYR1):c.4405C>T (p.Arg1469Trp)	SNV Germline	Chr19:38477821	Conflicting classifications of pathogenicity	Congenital myopathy RYR1-related disorder Condition: not provided not specified Fetal akinesia deformation sequence 1 Arthrogryposis multiplex congenita Congenital myopathy with fiber type disproportion Malignant hyperthermia, susceptibility to, 1 Neuromuscular disease See cases King Denborough syndrome Congenital multicore myopathy with external ophthalmoplegia	Criteria Provided Conflicting Classifications	CA024441	rs_200546266	19 SubmittersRCV000148819 RCV000534955 RCV000520385 RCV000501380 RCV000855482 RCV001198313 RCV003998172 RCV004017422 RCV004797783 RCV004767091 RCV005406848
NM_001999.4(FBN2):c.1064G>A (p.Gly355Asp)	SNV Germline	Chr5:128408688	Likely pathogenic	Cerebral ischemia Fetal akinesia deformation sequence 1 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 Respiratory insufficiency Stridor Delayed gross motor development Condition: not provided Congenital myasthenic syndrome 9 Fetal akinesia deformation sequence 1	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 not specified	Criteria Provided Conflicting Classifications	CA018989	rs_786205271	7 SubmittersRCV000171697 RCV000855502 RCV001842522 RCV005480327 RCV006263713
NM_173660.5(DOK7):c.331+9C>T	SNV Germline	Chr4:3473645	Conflicting classifications of pathogenicity	not specified Condition: not provided Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 10	Criteria Provided Conflicting Classifications	CA243604	rs_370879328	4 SubmittersRCV000243798 RCV000724336 RCV001080683
NM_005055.5(RAPSN):c.737C>T (p.Ala246Val)	SNV Germline	Chr11:47441875	Pathogenic/Likely pathogenic	Condition: not provided Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 11 Fetal akinesia deformation sequence 2 Fetal akinesia deformation sequence 2 Congenital myasthenic syndrome 11	Criteria Provided Multiple Submitters No Conflicts	CA275256	rs_559933584	6 SubmittersRCV000178236 RCV001313406 RCV003462285 RCV005049458
NM_005592.4(MUSK):c.486G>C (p.Arg162Ser)	SNV Germline	Chr9:110695530	Conflicting classifications of pathogenicity	Condition: not provided Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 9 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 Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 11	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 Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 10	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 Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 10 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 Condition: not provided Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 10	Criteria Provided Conflicting Classifications	CA247388	rs_141947707	4 SubmittersRCV000254259 RCV000724615 RCV001087618
NM_173660.5(DOK7):c.1305C>A (p.Gly435=)	SNV Germline	Chr4:3493291	Conflicting classifications of pathogenicity	Condition: not provided Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 10	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 Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 9 Condition: not provided Congenital myasthenic syndrome 9	Criteria Provided Multiple Submitters No Conflicts	CA277140	rs_200783529	5 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 Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 9 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	Conflicting classifications of pathogenicity	Congenital myasthenic syndrome 9 Fetal akinesia deformation sequence 1 Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 9 Condition: not provided	Criteria Provided Conflicting Classifications	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 Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 10 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	not specified Congenital myasthenic syndrome 9 Congenital myasthenic syndrome 9 Fetal akinesia deformation sequence 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA5184149	rs_56044404	7 SubmittersRCV000243198 RCV000309579 RCV000556195 RCV001535426
NM_005592.4(MUSK):c.1719T>C (p.Asn573=)	SNV Germline	Chr9:110785659	Conflicting classifications of pathogenicity	not specified Congenital myasthenic syndrome 9 Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 9 Condition: not provided	Criteria Provided Conflicting Classifications	CA5184433	rs_373118888	4 SubmittersRCV000246294 RCV000537953 RCV001166934 RCV006439887
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 Congenital myasthenic syndrome 11 Fetal akinesia deformation sequence 1 Condition: not provided Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 11 Congenital myasthenic syndrome Fetal akinesia deformation sequence 2	Criteria Provided Conflicting Classifications	CA5976519	rs_149683345	7 SubmittersRCV000246362 RCV000344045 RCV000402474 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 Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 11 Congenital myasthenic syndrome	Criteria Provided Conflicting Classifications	CA5976738	rs_56245238	9 SubmittersRCV000247109 RCV000355174 RCV000404374 RCV000726774 RCV001080568 RCV001275248
NM_005055.5(RAPSN):c.162G>A (p.Ser54=)	SNV Germline	Chr11:47448803	Conflicting classifications of pathogenicity	not specified 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	CA5976819	rs_72905825	7 SubmittersRCV000246056 RCV000545779 RCV001105612 RCV001105613 RCV001705366
NM_005055.5(RAPSN):c.-199C>G	SNV Germline	Chr11:47449163	Pathogenic/Likely pathogenic	Congenital myasthenic syndrome Congenital myasthenic syndrome 11 Fetal akinesia deformation sequence 1 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 Arthrogryposis multiplex congenita Fetal akinesia deformation sequence 1 Microcephaly 5, primary, autosomal recessive	Criteria Provided Multiple Submitters No Conflicts	CA10602744	rs_886041709	4 SubmittersRCV000294377 RCV000855492 RCV002503977
NM_005592.4(MUSK):c.665A>G (p.Asn222Ser)	SNV Germline	Chr9:110734287	Conflicting classifications of pathogenicity	not specified Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 9 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 Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 10 not specified	Criteria Provided Conflicting Classifications	CA2829444	rs_139468087	4 SubmittersRCV000320886 RCV001081974 RCV001660540
NM_173660.5(DOK7):c.1295G>A (p.Arg432Lys)	SNV Germline	Chr4:3493281	Conflicting classifications of pathogenicity	not specified Congenital myasthenic syndrome 10 Fetal akinesia deformation sequence 1 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2829453	rs_145419117	6 SubmittersRCV000387146 RCV000526718 RCV001546231 RCV005821675
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 not specified	Criteria Provided Conflicting Classifications	CA2828894	rs_201818140	6 SubmittersRCV000329116 RCV001088526 RCV003362744 RCV006452562
NM_005055.5(RAPSN):c.1203C>T (p.Asn401=)	SNV Germline	Chr11:47438011	Conflicting classifications of pathogenicity	Condition: not provided Congenital myasthenic syndrome 11 Fetal akinesia deformation sequence 1 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 Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 11	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 11 Congenital myasthenic syndrome	Criteria Provided Conflicting Classifications	CA5976594	rs_56040810	4 SubmittersRCV000304526 RCV001081237 RCV001106555 RCV001106554 RCV001274406
NM_005592.4(MUSK):c.1291G>A (p.Val431Met)	SNV Germline	Chr9:110775894	Conflicting classifications of pathogenicity	Congenital myasthenic syndrome 9 Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 9 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5184320	rs_372013406	3 SubmittersRCV000350489 RCV002524580 RCV005372301
NM_005592.4(MUSK):c.2098G>A (p.Ala700Thr)	SNV Germline	Chr9:110800476	Conflicting classifications of pathogenicity	Congenital myasthenic syndrome 9 Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 9 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5184570	rs_547450130	4 SubmittersRCV000403675 RCV002061309 RCV005672366
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 Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 11 Congenital myasthenic syndrome	Criteria Provided Conflicting Classifications	CA5976676	rs_78293924	3 SubmittersRCV000343403 RCV000392928 RCV000946126 RCV001274412
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 Congenital myasthenic syndrome 11 Fetal akinesia deformation sequence 1	Criteria Provided Conflicting Classifications	CA10631027	rs_762052702	2 SubmittersRCV000275433 RCV000328229 RCV005209502
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.1250C>T (p.Thr417Ile)	SNV Germline	Chr9:110775853	Conflicting classifications of pathogenicity	Congenital myasthenic syndrome 9 Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 9	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 Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 9	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 Congenital myasthenic syndrome 9 Fetal akinesia deformation sequence 1 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	Congenital myasthenic syndrome 11 Fetal akinesia deformation sequence 1 Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 11	Criteria Provided Conflicting Classifications	CA10638749	rs_886048388	2 SubmittersRCV000291804 RCV000328166 RCV000980196
NM_005055.5(RAPSN):c.928G>A (p.Glu310Lys)	SNV Germline	Chr11:47441197	Conflicting classifications of pathogenicity	Congenital myasthenic syndrome 11 Fetal akinesia deformation sequence 1 Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 11 Congenital myasthenic syndrome Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5976558	rs_367565995	5 SubmittersRCV000358965 RCV000396758 RCV001223828 RCV001833442 RCV003129828 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 11 Congenital myasthenic syndrome Condition: not provided RAPSN-related disorder	Criteria Provided Conflicting Classifications	CA5976732	rs_146237774	5 SubmittersRCV000297949 RCV000405598 RCV000528123 RCV001274414 RCV003133218 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 Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 11 Congenital myasthenic syndrome Fetal akinesia deformation sequence 2 Congenital myasthenic syndrome 11 Condition: not provided	Criteria Provided Conflicting Classifications	CA5976748	rs_35810986	6 SubmittersRCV000269370 RCV000366609 RCV000810152 RCV001276398 RCV002480112 RCV004693040
NM_005592.4(MUSK):c.2365G>A (p.Gly789Ser)	SNV Germline	Chr9:110800743	Conflicting classifications of pathogenicity	Delayed gross motor development Bilateral ptosis Stridor Respiratory insufficiency Fetal akinesia deformation sequence 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA16043436	rs_1057518966	2 SubmittersRCV000415334 RCV001198407 RCV003129855
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 Congenital myasthenic syndrome 11 Fetal akinesia deformation sequence 1	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 Fetal akinesia deformation sequence 1 Arthrogryposis multiplex congenita Adult polyglucosan body disease Glycogen storage disease, type IV Glycogen storage disease, type IV Glycogen storage disease IV, classic hepatic not specified	Criteria Provided Conflicting Classifications	CA2499591	rs_552094593	7 SubmittersRCV000487962 RCV000855462 RCV001329659 RCV001829394 RCV002528222 RCV003330722
NM_173660.5(DOK7):c.513C>T (p.Gly171=)	SNV Germline	Chr4:3476523	Pathogenic/Likely pathogenic	Condition: not provided Congenital myasthenic syndrome 10 Congenital myasthenic syndrome 10 Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome Fetal akinesia deformation sequence 3 Fetal akinesia deformation sequence 3 Congenital myasthenic syndrome 10	Criteria Provided Multiple Submitters No Conflicts	CA2829017	rs_775583136	5 SubmittersRCV000493977 RCV000679965 RCV001036855 RCV002282177 RCV003470614 RCV005034033
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 DOK7-related disorder Congenital myasthenic syndrome Congenital myasthenic syndrome 10 Fetal akinesia deformation sequence 1	Criteria Provided Multiple Submitters No Conflicts	CA356113804	rs_1349476281	8 SubmittersRCV000001343 RCV000520261 RCV000767366 RCV003403229 RCV003479149 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 Fetal akinesia deformation sequence 1 Arthrogryposis multiplex congenita Lethal congenital contracture syndrome 11	Criteria Provided Multiple Submitters No Conflicts	CA7560758	rs_750803388	3 SubmittersRCV000524042 RCV000855464 RCV004594071
NM_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 Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA2829446	rs_377555406	3 SubmittersRCV000537129 RCV002526139 RCV003144335
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 Congenital myasthenic syndrome 10 Fetal akinesia deformation sequence 3 Inborn genetic diseases Congenital myasthenic syndrome 10	Criteria Provided Conflicting Classifications	CA2829557	rs_184556570	7 SubmittersRCV000531626 RCV001086530 RCV002491019 RCV004024008 RCV005357588
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 Congenital myasthenic syndrome 10 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2829394	rs_144158112	6 SubmittersRCV000545345 RCV000660547 RCV001532503 RCV002528401
NM_173660.5(DOK7):c.1346C>T (p.Thr449Met)	SNV Germline	Chr4:3493332	Conflicting classifications of pathogenicity	Congenital myasthenic syndrome 10 Fetal akinesia deformation sequence 1 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	Condition: not provided Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 9 Congenital myasthenic syndrome 9	Criteria Provided Conflicting Classifications	CA5184471	rs_114362384	3 SubmittersRCV000841942 RCV001080574 RCV001168648
NM_005592.4(MUSK):c.2443G>T (p.Val815Leu)	SNV Germline	Chr9:110800821	Conflicting classifications of pathogenicity	Congenital myasthenic syndrome 9 Fetal akinesia deformation sequence 1 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	4 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.662G>A (p.Arg221His)	SNV Germline	Chr11:47442684	Conflicting classifications of pathogenicity	Congenital myasthenic syndrome 11 Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA380331735	rs_1377574572	3 SubmittersRCV000541515 RCV001834812 RCV005712208
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 Congenital myasthenic syndrome 11 RAPSN-related disorder Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA5976688	rs_201124957	5 SubmittersRCV000548221 RCV001103570 RCV001103571 RCV004732944 RCV005470468 RCV006277909
NM_005055.5(RAPSN):c.853C>T (p.Gln285Ter)	SNV Germline	Chr11:47441670	Pathogenic	Congenital myasthenic syndrome 11 Fetal akinesia deformation sequence 1	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	Congenital myasthenic syndrome 11 Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome Fetal akinesia deformation sequence 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA380334223	rs_1479498379	4 SubmittersRCV000534807 RCV003114675 RCV003470767 RCV004719872
NM_005592.4(MUSK):c.2292C>T (p.Ile764=)	SNV Germline	Chr9:110800670	Conflicting classifications of pathogenicity	Condition: not provided Congenital myasthenic syndrome 9 Fetal akinesia deformation sequence 1	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 Arthrogryposis multiplex congenita Fetal akinesia deformation sequence 1 Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 11 Fetal akinesia deformation sequence 2	Criteria Provided Conflicting Classifications	CA5976768	rs_375218091	6 SubmittersRCV000591406 RCV000855473 RCV001867917 RCV003465332
NM_004560.4(ROR2):c.808A>G (p.Ile270Val)	SNV Germline	Chr9:91733251	Conflicting classifications of pathogenicity	Condition: not provided Arthrogryposis multiplex congenita Fetal akinesia deformation sequence 1	Criteria Provided Conflicting Classifications	CA5120886	rs_145631389	4 SubmittersRCV000597894 RCV000855499
NM_173660.5(DOK7):c.82A>C (p.Lys28Gln)	SNV Germline	Chr4:3463533	Conflicting classifications of pathogenicity	Condition: not provided Congenital myasthenic syndrome 10 Fetal akinesia deformation sequence 1	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 Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 9	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	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 10 Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA2829142	rs_146895834	3 SubmittersRCV000641536 RCV003372781 RCV005051809
NM_173660.5(DOK7):c.1007C>T (p.Ser336Leu)	SNV Germline	Chr4:3492993	Conflicting classifications of pathogenicity	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 10 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	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 10 Condition: not provided DOK7-related disorder	Criteria Provided Conflicting Classifications	CA2829507	rs_147185207	3 SubmittersRCV000641549 RCV003144415 RCV004752978
NM_173660.5(DOK7):c.812G>C (p.Ser271Thr)	SNV Germline	Chr4:3492798	Conflicting classifications of pathogenicity	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 10 Condition: not provided DOK7-related disorder not specified Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2829235	rs_144592743	6 SubmittersRCV000641551 RCV001591432 RCV003905734 RCV004702234 RCV005809307
NM_173660.5(DOK7):c.1258C>G (p.Pro420Ala)	SNV Germline	Chr4:3493244	Conflicting classifications of pathogenicity	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 10 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	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 10 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	Congenital myasthenic syndrome 9 Fetal akinesia deformation sequence 1 Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA5184581	rs_376635652	3 SubmittersRCV000653229 RCV002532005 RCV003133467
NM_005592.4(MUSK):c.2203G>A (p.Glu735Lys)	SNV Germline	Chr9:110800581	Conflicting classifications of pathogenicity	Congenital myasthenic syndrome 9 Fetal akinesia deformation sequence 1 Condition: not provided Congenital myasthenic syndrome 9	Criteria Provided Conflicting Classifications	CA5184582	rs_138418494	7 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	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 10 Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 10 Fetal akinesia deformation sequence 3 Congenital myasthenic syndrome	Criteria Provided Multiple Submitters No Conflicts	CA2828996	rs_770987150	3 SubmittersRCV000679963 RCV001228448 RCV002290973 RCV003465547 RCV005056424
NM_173660.5(DOK7):c.481G>A (p.Gly161Arg)	SNV Germline	Chr4:3476491	Conflicting classifications of pathogenicity	Congenital myasthenic syndrome 10 Congenital myasthenic syndrome 10 Fetal akinesia deformation sequence 1 Condition: not provided Fetal akinesia deformation sequence 3 Congenital myasthenic syndrome	Criteria Provided Conflicting Classifications	CA2829010	rs_758131044	6 SubmittersRCV000679964 RCV000797959 RCV001784303 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 Congenital myasthenic syndrome 10 Fetal akinesia deformation sequence 1 Fetal akinesia deformation sequence 3 Congenital myasthenic syndrome	Criteria Provided Multiple Submitters No Conflicts	CA2829019	rs_768892432	5 SubmittersRCV000679966 RCV001269756 RCV001390615 RCV003459655 RCV004768550
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	Congenital myasthenic syndrome 9 Fetal akinesia deformation sequence 1 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 Fetal akinesia deformation sequence 1 Arthrogryposis multiplex congenita Condition: not provided Short stature Brachydactyly type B1 Autosomal recessive Robinow syndrome Gastric cancer	Criteria Provided Conflicting Classifications	CA5120613	rs_117134265	8 SubmittersRCV000732649 RCV000855500 RCV000903196 RCV001310261 RCV005047000 RCV005897260
NM_173660.5(DOK7):c.957C>G (p.Pro319=)	SNV Germline	Chr4:3492943	Conflicting classifications of pathogenicity	Condition: not provided Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 10 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	Arthrogryposis multiplex congenita Fetal akinesia deformation sequence 1 Fetal akinesia deformation sequence 1 Spinal muscular atrophy with congenital bone fractures 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA5548982	rs_747595523	8 SubmittersRCV000855457 RCV001004046 RCV000791458 RCV001796204
NM_001378183.1(PIEZO2):c.1384C>T (p.Arg462Ter)	SNV Germline	Chr18:10797517	Pathogenic	Arthrogryposis, distal, with impaired proprioception and touch Fetal akinesia deformation sequence 1 Arthrogryposis multiplex congenita	Criteria Provided Single Submitter	CA401925060	rs_1568069621	2 SubmittersRCV000779589 RCV000855470
NM_173660.5(DOK7):c.472C>T (p.Arg158Trp)	SNV Germline	Chr4:3476482	Conflicting classifications of pathogenicity	Congenital myasthenic syndrome 10 Fetal akinesia deformation sequence 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA2829006	rs_753436594	2 SubmittersRCV000796699 RCV003489877
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 Inborn genetic diseases not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA2829373	rs_371846002	4 SubmittersRCV000822754 RCV003169039 RCV001731945 RCV001766748
NM_173660.5(DOK7):c.1168C>T (p.Pro390Ser)	SNV Germline	Chr4:3493154	Conflicting classifications of pathogenicity	Congenital myasthenic syndrome 10 Fetal akinesia deformation sequence 1 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2829391	rs_149525610	3 SubmittersRCV000807008 RCV003144630 RCV004028270
NM_173660.5(DOK7):c.1215T>G (p.Tyr405Ter)	SNV Germline	Chr4:3493201	Likely pathogenic	Congenital myasthenic syndrome 10 Fetal akinesia deformation sequence 1	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	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 9	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	Congenital myasthenic syndrome 11 Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 11 Condition: not provided Fetal akinesia deformation sequence 2	Criteria Provided Conflicting Classifications	CA5976598	rs_374604570	4 SubmittersRCV000850590 RCV002470993 RCV003130080 RCV003467529
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	Arthrogryposis multiplex congenita Fetal akinesia deformation sequence 1 Condition: not provided VPS13D-related disorder not specified	Criteria Provided Conflicting Classifications	CA602099	rs_79282181	5 SubmittersRCV000855522 RCV002064422 RCV003908141 RCV006448650
NM_018136.5(ASPM):c.2863C>T (p.Gln955Ter)	SNV Germline	Chr1:197128563	Pathogenic	Arthrogryposis multiplex congenita Fetal akinesia deformation sequence 1 Microcephaly 5, primary, autosomal recessive Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA1310334	rs_774338373	3 SubmittersRCV000855491 RCV003453775 RCV001816923
NM_001100.4(ACTA1):c.739G>A (p.Gly247Arg)	SNV Germline	Chr1:229432063	Pathogenic	Arthrogryposis multiplex congenita Fetal akinesia deformation sequence 1 Actin accumulation myopathy Condition: not provided Congenital myopathy 2b, severe infantile, autosomal recessive Congenital myopathy 2c, severe infantile, autosomal dominant Progressive scapulohumeroperoneal distal myopathy Actin accumulation myopathy	Criteria Provided Multiple Submitters No Conflicts	CA345146753	rs_1057521117	4 SubmittersRCV000855456 RCV003517274 RCV005628863 RCV006605306
NM_000751.3(CHRND):c.452G>C (p.Cys151Ser)	SNV Germline	Chr2:232528599	Likely pathogenic	Arthrogryposis multiplex congenita Fetal akinesia deformation sequence 1	Criteria Provided Single Submitter	CA350998301	rs_1574630583	1 SubmittersRCV000855459
NM_001384125.1(BLTP1):c.3926G>A (p.Arg1309Gln)	SNV Unknown	Chr4:122239608	Likely pathogenic	Arthrogryposis multiplex congenita Fetal akinesia deformation sequence 1	Criteria Provided Single Submitter	CA358089925	rs_1460624416	1 SubmittersRCV000855516
NM_001384125.1(BLTP1):c.12154T>C (p.Tyr4052His)	SNV Unknown	Chr4:122336233	Likely pathogenic	Arthrogryposis multiplex congenita Fetal akinesia deformation sequence 1	Criteria Provided Single Submitter	CA3067930	rs_777407076	1 SubmittersRCV000855517
NM_177924.5(ASAH1):c.491G>T (p.Gly164Val)	SNV Germline	Chr8:18063197	Conflicting classifications of pathogenicity	Arthrogryposis multiplex congenita Fetal akinesia deformation sequence 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA370431037	rs_1588980220	2 SubmittersRCV000855490 RCV002536200
NM_177924.5(ASAH1):c.88G>A (p.Asp30Asn)	SNV Germline	Chr8:18075578	Conflicting classifications of pathogenicity	Arthrogryposis multiplex congenita Fetal akinesia deformation sequence 1 Condition: not provided Farber lipogranulomatosis	Criteria Provided Conflicting Classifications	CA4651083	rs_200758704	4 SubmittersRCV000855489 RCV000983934 RCV001164025
NM_005055.5(RAPSN):c.794C>T (p.Ala265Val)	SNV Germline	Chr11:47441729	Conflicting classifications of pathogenicity	Arthrogryposis multiplex congenita Fetal akinesia deformation sequence 1 Fetal akinesia deformation sequence 2	Criteria Provided Conflicting Classifications	CA380329822	rs_1040279711	2 SubmittersRCV000855474 RCV005359606
NM_001330260.2(SCN8A):c.719T>C (p.Ile240Thr)	SNV Germline	Chr12:51699582	Likely pathogenic	Arthrogryposis multiplex congenita Fetal akinesia deformation sequence 1 Developmental and epileptic encephalopathy, 13	Criteria Provided Multiple Submitters No Conflicts	CA385226373	rs_1592387849	2 SubmittersRCV000855503 RCV001775152
NM_052867.4(NALCN):c.1783G>T (p.Val595Phe)	SNV Germline	Chr13:101176356	Likely pathogenic	Arthrogryposis multiplex congenita Fetal akinesia deformation sequence 1	Criteria Provided Single Submitter	CA388702919	rs_1594368753	1 SubmittersRCV000855468
NM_052867.4(NALCN):c.950T>G (p.Phe317Cys)	SNV Germline	Chr13:101292087	Likely pathogenic	Arthrogryposis multiplex congenita Fetal akinesia deformation sequence 1	Criteria Provided Single Submitter	CA388704839	rs_1594616249	1 SubmittersRCV000855467
NM_052867.4(NALCN):c.191A>G (p.Tyr64Cys)	SNV Unknown	Chr13:101395283	Likely pathogenic	Arthrogryposis multiplex congenita Fetal akinesia deformation sequence 1	Criteria Provided Single Submitter	CA7036526	rs_762389271	1 SubmittersRCV000855469
NM_001376.5(DYNC1H1):c.10357G>A (p.Val3453Ile)	SNV Germline	Chr14:102033428	Conflicting classifications of pathogenicity	Fetal akinesia deformation sequence 1 Arthrogryposis multiplex congenita Charcot-Marie-Tooth disease axonal type 2O Condition: not provided	Criteria Provided Conflicting Classifications	CA7353397	rs_778115137	3 SubmittersRCV000855520 RCV001366306 RCV006450363
NM_001376.5(DYNC1H1):c.12600G>T (p.Gly4200=)	SNV Germline	Chr14:102043961	Conflicting classifications of pathogenicity	Fetal akinesia deformation sequence 1 Arthrogryposis multiplex congenita Charcot-Marie-Tooth disease axonal type 2O	Criteria Provided Conflicting Classifications	CA488186538	rs_1595633027	2 SubmittersRCV000855523 RCV001367404
NM_001083614.2(EARS2):c.814G>A (p.Ala272Thr)	SNV Germline	Chr16:23535032	Conflicting classifications of pathogenicity	Fetal akinesia deformation sequence 1 Arthrogryposis multiplex congenita Condition: not provided Mitochondrial disease	Criteria Provided Conflicting Classifications	CA7962501	rs_749912939	4 SubmittersRCV000855494 RCV001310323 RCV005359607
NM_003632.3(CNTNAP1):c.69C>G (p.Tyr23Ter)	SNV Germline	Chr17:42683822	Pathogenic	Arthrogryposis multiplex congenita Fetal akinesia deformation sequence 1	Criteria Provided Single Submitter	CA399632041	rs_1597802927	1 SubmittersRCV000855460
NM_003632.3(CNTNAP1):c.1906G>A (p.Val636Met)	SNV Germline	Chr17:42690789	Likely pathogenic	Arthrogryposis multiplex congenita Fetal akinesia deformation sequence 1	Criteria Provided Single Submitter	CA399642944	rs_1597807901	1 SubmittersRCV000855461
NM_000334.4(SCN4A):c.2018T>C (p.Leu673Pro)	SNV Unknown	Chr17:63959266	Likely pathogenic	Arthrogryposis multiplex congenita Fetal akinesia deformation sequence 1	Criteria Provided Single Submitter	CA400631560	rs_1597978607	1 SubmittersRCV000855486
NM_001378183.1(PIEZO2):c.911A>G (p.Tyr304Cys)	SNV Unknown	Chr18:10855359	Conflicting classifications of pathogenicity	Arthrogryposis multiplex congenita Fetal akinesia deformation sequence 1 Arthrogryposis, distal, with impaired proprioception and touch	Criteria Provided Conflicting Classifications	CA8892803	rs_773449118	2 SubmittersRCV000855471 RCV003147564
NM_139284.3(LGI4):c.1031T>A (p.Leu344Gln)	SNV Germline	Chr19:35126538	Likely pathogenic	Arthrogryposis multiplex congenita Fetal akinesia deformation sequence 1	Criteria Provided Single Submitter	CA405305171	rs_1201430967	1 SubmittersRCV000855466
NM_139284.3(LGI4):c.504G>C (p.Trp168Cys)	SNV Germline	Chr19:35131510	Conflicting classifications of pathogenicity	Arthrogryposis multiplex congenita Fetal akinesia deformation sequence 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA9373323	rs_201728190	2 SubmittersRCV000855465 RCV004820124
NM_000540.3(RYR1):c.1835C>A (p.Ala612Asp)	SNV Unknown	Chr19:38457540	Likely pathogenic	Arthrogryposis multiplex congenita Fetal akinesia deformation sequence 1	Criteria Provided Single Submitter	CA405693870	rs_1600682739	1 SubmittersRCV000855481
NM_000540.3(RYR1):c.2167G>A (p.Gly723Arg)	SNV Unknown	Chr19:38458292	Likely pathogenic	Arthrogryposis multiplex congenita Fetal akinesia deformation sequence 1	Criteria Provided Single Submitter	CA062941	rs_755496104	1 SubmittersRCV000855475
NM_000540.3(RYR1):c.7298T>C (p.Leu2433Pro)	SNV Germline	Chr19:38499991	Conflicting classifications of pathogenicity	Fetal akinesia deformation sequence 1 Arthrogryposis multiplex congenita Condition: not provided RYR1-related disorder	Criteria Provided Conflicting Classifications	CA405669567	rs_1600822174	3 SubmittersRCV000855484 RCV002275162 RCV003117621
NM_000540.3(RYR1):c.8024C>A (p.Thr2675Lys)	SNV Germline	Chr19:38504317	Likely pathogenic	Arthrogryposis multiplex congenita Fetal akinesia deformation sequence 1 Centronuclear myopathy	Criteria Provided Multiple Submitters No Conflicts	CA405676016	rs_1600843056	2 SubmittersRCV000855478 RCV004586957
NM_000540.3(RYR1):c.10018G>A (p.Val3340Met)	SNV Germline	Chr19:38517691	Conflicting classifications of pathogenicity	Arthrogryposis multiplex congenita Fetal akinesia deformation sequence 1 Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA405693508	rs_1600892115	2 SubmittersRCV000855480 RCV004803279
NM_000540.3(RYR1):c.13998G>A (p.Lys4666=)	SNV Unknown	Chr19:38572270	Likely pathogenic	Arthrogryposis multiplex congenita Fetal akinesia deformation sequence 1	Criteria Provided Single Submitter	CA507356267	rs_1599649479	1 SubmittersRCV000855483
NM_001001344.3(ATP2B3):c.197C>T (p.Ser66Leu)	SNV Germline	ChrX:153536444	Likely pathogenic	Arthrogryposis multiplex congenita Fetal akinesia deformation sequence 1	Criteria Provided Single Submitter	CA415073373	rs_1603040061	1 SubmittersRCV000855493
NM_173660.5(DOK7):c.641C>T (p.Pro214Leu)	SNV Germline	Chr4:3485647	Conflicting classifications of pathogenicity	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 10 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2829097	rs_147760280	5 SubmittersRCV000876533 RCV001560296 RCV004973126
NM_173660.5(DOK7):c.665C>T (p.Pro222Leu)	SNV Germline	Chr4:3489689	Conflicting classifications of pathogenicity	Condition: not provided Congenital myasthenic syndrome 10 Fetal akinesia deformation sequence 1 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	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 10 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	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 10 Condition: not provided DOK7-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2829544	rs_202073484	6 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 Congenital myasthenic syndrome 9 Fetal akinesia deformation sequence 1 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	Congenital myasthenic syndrome 9 Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 9 Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA5184424	rs_192173278	4 SubmittersRCV000876872 RCV001166933 RCV003432851 RCV006440282
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 Congenital myasthenic syndrome 11 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5976454	rs_139398367	6 SubmittersRCV000950989 RCV001103493 RCV001274399 RCV001103494 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 1 Congenital myasthenic syndrome 10 Fetal akinesia deformation sequence 3 Congenital myasthenic syndrome 10	Criteria Provided Conflicting Classifications	CA2828904	rs_546630800	2 SubmittersRCV001071236 RCV002480442
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	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 10 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	Congenital myasthenic syndrome 9 Fetal akinesia deformation sequence 1	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	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 9	Criteria Provided Single Submitter	CA374478388	rs_1238400476	1 SubmittersRCV001064003
NM_005592.4(MUSK):c.2287G>A (p.Ala763Thr)	SNV Germline	Chr9:110800665	Conflicting classifications of pathogenicity	Congenital myasthenic syndrome 9 Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 9 Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA5184601	rs_199507468	5 SubmittersRCV001041552 RCV001169416 RCV003132154 RCV004587019
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	Congenital myasthenic syndrome 11 Fetal akinesia deformation sequence 1 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 Condition: not provided Congenital myasthenic syndrome Fetal akinesia deformation sequence 2 Congenital myasthenic syndrome 11 Fetal akinesia deformation sequence 2	Criteria Provided Multiple Submitters No Conflicts	CA5976731	rs_761584017	9 SubmittersRCV001061762 RCV001508667 RCV001832551 RCV003462591 RCV005049755
NM_005055.5(RAPSN):c.425C>A (p.Ala142Asp)	SNV Germline	Chr11:47447918	Pathogenic/Likely pathogenic	Congenital myasthenic syndrome 11 Fetal akinesia deformation sequence 1 Condition: not provided Fetal akinesia deformation sequence 2 Congenital myasthenic syndrome Congenital myasthenic syndrome 11 Fetal akinesia deformation sequence 2	Criteria Provided Multiple Submitters No Conflicts	CA5976746	rs_368695664	6 SubmittersRCV001066055 RCV001559969 RCV003467832 RCV005432564 RCV005049757
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	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 10	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	Congenital myasthenic syndrome 9 Condition: not provided Congenital myasthenic syndrome 9 Fetal akinesia deformation sequence 1	Criteria Provided Conflicting Classifications	CA5184317	rs_368044285	3 SubmittersRCV001166930 RCV001093097 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	Congenital myasthenic syndrome 11 Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 11 Fetal akinesia deformation sequence 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA5976740	rs_142635726	3 SubmittersRCV001105498 RCV001105499 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 1 Inborn genetic diseases Fetal akinesia deformation sequence 2 Congenital myasthenic syndrome 11 Condition: not provided	Criteria Provided Conflicting Classifications	CA5976756	rs_150756111	6 SubmittersRCV001106664 RCV001106665 RCV001279260 RCV002556089 RCV002556090 RCV002505680 RCV003490075
NM_005055.5(RAPSN):c.912+9G>T	SNV Germline	Chr11:47441602	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	CA1139661958	rs_751790521	2 SubmittersRCV001106550 RCV001106551 RCV003769096
NM_005055.5(RAPSN):c.912+9G>A	SNV Germline	Chr11:47441602	Conflicting classifications of pathogenicity	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 11 Congenital myasthenic syndrome 11 Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome RAPSN-related disorder	Criteria Provided Conflicting Classifications	CA5976590	rs_751790521	4 SubmittersRCV001106552 RCV001106553 RCV001243852 RCV001833706 RCV004538329
NM_005592.4(MUSK):c.1446C>G (p.Ser482=)	SNV Germline	Chr9:110784876	Conflicting classifications of pathogenicity	Congenital myasthenic syndrome 9 Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 9	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.94G>A (p.Val32Met)	SNV Germline	Chr4:3463545	Conflicting classifications of pathogenicity	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 10 Condition: not provided	Criteria Provided Conflicting Classifications	CA356112158	rs_1417673287	2 SubmittersRCV001220031 RCV005633956
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 Condition: not provided DOK7-related disorder Congenital myasthenic syndrome 10	Criteria Provided Conflicting Classifications	CA91528915	rs_940346413	5 SubmittersRCV001223702 RCV003236878 RCV004753240 RCV006446070
NM_173660.5(DOK7):c.480C>A (p.Tyr160Ter)	SNV Germline	Chr4:3476490	Pathogenic	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 10 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	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 10 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2829246	rs_144269117	2 SubmittersRCV001221305 RCV004619563
NM_005592.4(MUSK):c.1735A>T (p.Arg579Ter)	SNV Germline	Chr9:110785675	Pathogenic	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 9	Criteria Provided Single Submitter	CA5184437	rs_752798426	1 SubmittersRCV001218791
NM_005055.5(RAPSN):c.1065C>A (p.Cys355Ter)	SNV Germline	Chr11:47438833	Pathogenic	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 11	Criteria Provided Single Submitter	CA380327642	rs_763094966	1 SubmittersRCV001219154
NM_173660.5(DOK7):c.415G>C (p.Val139Leu)	SNV Germline	Chr4:3476425	Likely pathogenic	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 10 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 not specified Fetal akinesia deformation sequence 3 Condition: not provided	Criteria Provided Conflicting Classifications	CA2829014	rs_781227659	4 SubmittersRCV001212330 RCV004690017 RCV003469353 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	Congenital myasthenic syndrome 10 Fetal akinesia deformation sequence 1 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	Congenital myasthenic syndrome 10 Fetal akinesia deformation sequence 1 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	Congenital myasthenic syndrome 9 Fetal akinesia deformation sequence 1 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.676A>G (p.Thr226Ala)	SNV Germline	Chr4:3489700	Conflicting classifications of pathogenicity	Inborn genetic diseases Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 10	Criteria Provided Conflicting Classifications	CA356115367	rs_1447016347	2 SubmittersRCV006352160 RCV001345610
NM_173660.5(DOK7):c.919G>C (p.Ala307Pro)	SNV Germline	Chr4:3492905	Conflicting classifications of pathogenicity	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 10 Fetal akinesia deformation sequence 3 Congenital myasthenic syndrome 10 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 Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA2829553	rs_750262940	3 SubmittersRCV001351240 RCV003169743 RCV003145607
NM_005592.4(MUSK):c.916T>C (p.Trp306Arg)	SNV Germline	Chr9:110762204	Conflicting classifications of pathogenicity	Congenital myasthenic syndrome 9 Fetal akinesia deformation sequence 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA374466967	rs_1319203200	2 SubmittersRCV001373745 RCV006377206
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 11 Congenital myasthenic syndrome 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 RCV001563594 RCV001826152 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	Congenital myasthenic syndrome 10 Fetal akinesia deformation sequence 1	Criteria Provided Single Submitter	CA356117874	rs_745941308	1 SubmittersRCV001381053
NM_005055.5(RAPSN):c.838G>T (p.Gly280Ter)	SNV Germline	Chr11:47441685	Pathogenic	Congenital myasthenic syndrome 11 Fetal akinesia deformation sequence 1	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	Congenital myasthenic syndrome 11 Fetal akinesia deformation sequence 1 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	Congenital myasthenic syndrome 11 Fetal akinesia deformation sequence 1 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	Congenital myasthenic syndrome 11 Fetal akinesia deformation sequence 1 Condition: not provided Congenital myasthenic syndrome Congenital myasthenic syndrome 11 Fetal akinesia deformation sequence 2	Criteria Provided Multiple Submitters No Conflicts	CA221722215	rs_749287203	5 SubmittersRCV001387007 RCV001780357 RCV001826172 RCV005050369
NM_173660.5(DOK7):c.816C>G (p.His272Gln)	SNV Germline	Chr4:3492802	Conflicting classifications of pathogenicity	Congenital myasthenic syndrome 10 Fetal akinesia deformation sequence 1 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2829236	rs_115614731	3 SubmittersRCV001484179 RCV001751773 RCV005330868
NM_005055.5(RAPSN):c.491G>A (p.Arg164His)	SNV Germline	Chr11:47447852	Conflicting classifications of pathogenicity	Condition: not provided Fetal akinesia deformation sequence 2 Fetal akinesia deformation sequence 2 Congenital myasthenic syndrome 11 Congenital myasthenic syndrome 11 Fetal akinesia deformation sequence 1	Criteria Provided Conflicting Classifications	CA5976733	rs_374588028	5 SubmittersRCV003132529 RCV003463061 RCV005050396 RCV006557609
NM_005055.5(RAPSN):c.679G>T (p.Glu227Ter)	SNV Germline	Chr11:47442667	Pathogenic/Likely pathogenic	Condition: not provided Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 11 Fetal akinesia deformation sequence 2 Congenital myasthenic syndrome 11	Criteria Provided Multiple Submitters No Conflicts	CA380331566	rs_2153309050	3 SubmittersRCV001783664 RCV001868867 RCV005050409
NM_005055.5(RAPSN):c.272G>C (p.Arg91Pro)	SNV Germline	Chr11:47448071	Likely pathogenic	Congenital myasthenic syndrome 11 Fetal akinesia deformation sequence 1	Criteria Provided Single Submitter	CA380334774	rs_375218091	1 SubmittersRCV002034290
NM_005592.4(MUSK):c.2170C>T (p.Arg724Ter)	SNV Germline	Chr9:110800548	Pathogenic	Congenital myasthenic syndrome 9 Fetal akinesia deformation sequence 1	Criteria Provided Single Submitter	CA374478415	rs_1255531873	1 SubmittersRCV001994540
NM_005055.5(RAPSN):c.318C>A (p.Cys106Ter)	SNV Germline	Chr11:47448025	Pathogenic	Congenital myasthenic syndrome 11 Fetal akinesia deformation sequence 1	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	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 9 Condition: not provided not specified Congenital myasthenic syndrome 9	Criteria Provided Conflicting Classifications	CA5184439	rs_202126269	5 SubmittersRCV002012049 RCV003130632 RCV004587265 RCV006249788
NM_005055.5(RAPSN):c.272G>A (p.Arg91His)	SNV Germline	Chr11:47448071	Likely pathogenic	Congenital myasthenic syndrome 11 Fetal akinesia deformation sequence 1	Criteria Provided Single Submitter	CA5976767	rs_375218091	1 SubmittersRCV001892251
NM_173660.5(DOK7):c.299G>A (p.Trp100Ter)	SNV Germline	Chr4:3473604	Pathogenic	Congenital myasthenic syndrome 10 Fetal akinesia deformation sequence 1	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	Congenital myasthenic syndrome 10 Fetal akinesia deformation sequence 1	Criteria Provided Single Submitter	CA356114241	rs_779798129	1 SubmittersRCV001929294
NM_005055.5(RAPSN):c.537C>A (p.Tyr179Ter)	SNV Germline	Chr11:47442809	Pathogenic	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 11	Criteria Provided Single Submitter	CA380332505	rs_1015604630	1 SubmittersRCV001899155
NM_173660.5(DOK7):c.436C>T (p.Pro146Ser)	SNV Germline	Chr4:3476446	Likely pathogenic	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 10	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	Congenital myasthenic syndrome 10 Fetal akinesia deformation sequence 1 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	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 11	Criteria Provided Single Submitter	CA380337433	rs_2076433607	1 SubmittersRCV001909290
NM_005592.4(MUSK):c.1778+1G>T	SNV Germline	Chr9:110785719	Likely pathogenic	Congenital myasthenic syndrome 9 Fetal akinesia deformation sequence 1	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 Congenital myasthenic syndrome Fetal akinesia deformation sequence 3 Congenital myasthenic syndrome 10 Fetal akinesia deformation sequence 1	Criteria Provided Multiple Submitters No Conflicts	CA2828993	rs_771995943	4 SubmittersRCV002281329 RCV003331339 RCV003471305 RCV003774920
NM_005055.5(RAPSN):c.280G>A (p.Glu94Lys)	SNV Germline	Chr11:47448063	Conflicting classifications of pathogenicity	not specified Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 11 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_173660.5(DOK7):c.451C>T (p.Gln151Ter)	SNV Germline	Chr4:3476461	Pathogenic/Likely pathogenic	Congenital myasthenic syndrome Congenital myasthenic syndrome 10 Fetal akinesia deformation sequence 3 Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 10	Criteria Provided Multiple Submitters No Conflicts	CA2829001	rs_763262694	4 SubmittersRCV002470160 RCV003340496 RCV003475390 RCV006559475
NM_005592.4(MUSK):c.2358G>A (p.Trp786Ter)	SNV Germline	Chr9:110800736	Pathogenic	Congenital myasthenic syndrome 9 Fetal akinesia deformation sequence 1	Criteria Provided Single Submitter	CA374479440	rs_867146882	1 SubmittersRCV003066491
NM_005055.5(RAPSN):c.973C>T (p.Gln325Ter)	SNV Germline	Chr11:47438925	Pathogenic	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 11	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	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 11	Criteria Provided Single Submitter	CA221723367	rs_121909254	1 SubmittersRCV002579002
NM_005055.5(RAPSN):c.3G>T (p.Met1Ile)	SNV Germline	Chr11:47448962	Pathogenic	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 11	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	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 11	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 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA2829007	rs_754633490	2 SubmittersRCV002671810 RCV005635590
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	Condition: not provided Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 10	Criteria Provided Conflicting Classifications	CA438362577	rs_768322699	2 SubmittersRCV003146640 RCV002776484
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	Congenital myasthenic syndrome 9 Fetal akinesia deformation sequence 1	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 10 Congenital myasthenic syndrome	Criteria Provided Conflicting Classifications	CA2828984	rs_763494431	4 SubmittersRCV002876544 RCV004571404 RCV005409895 RCV004765582
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	Congenital myasthenic syndrome 11 Fetal akinesia deformation sequence 1 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 Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 10 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 Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 9	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	Congenital myasthenic syndrome 10 Fetal akinesia deformation sequence 1	Criteria Provided Single Submitter	CA356115885	rs_1268475752	1 SubmittersRCV003782020
NM_173660.5(DOK7):c.332-2A>G	SNV Germline	Chr4:3476340	Likely pathogenic	Congenital myasthenic syndrome 10 Fetal akinesia deformation sequence 1	Criteria Provided Single Submitter	CA356114057	rs_1480670755	1 SubmittersRCV003782240
NM_173660.5(DOK7):c.190G>C (p.Gly64Arg)	SNV Germline	Chr4:3473495	Likely pathogenic	Congenital myasthenic syndrome 10 Fetal akinesia deformation sequence 1	Criteria Provided Single Submitter	CA356113311	rs_1246160310	1 SubmittersRCV003796003
NM_005592.4(MUSK):c.207-1G>A	SNV Germline	Chr9:110687116	Likely pathogenic	Congenital myasthenic syndrome 9 Fetal akinesia deformation sequence 1	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	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 9	Criteria Provided Single Submitter	CA198339781	rs_866186589	1 SubmittersRCV003795734
NM_005592.4(MUSK):c.1360+1G>A	SNV Germline	Chr9:110775964	Likely pathogenic	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 9	Criteria Provided Single Submitter	CA374473428	rs_2491098868	1 SubmittersRCV003793156
NM_005592.4(MUSK):c.1185-2A>G	SNV Germline	Chr9:110775786	Likely pathogenic	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 9	Criteria Provided Single Submitter	CA374472566	rs_2491096235	1 SubmittersRCV003793173
NM_005055.5(RAPSN):c.691-1G>A	SNV Germline	Chr11:47441922	Likely pathogenic	Congenital myasthenic syndrome 11 Fetal akinesia deformation sequence 1	Criteria Provided Single Submitter	CA380330635	rs_2076368824	1 SubmittersRCV003780098
NM_005592.4(MUSK):c.1218C>A (p.Cys406Ter)	SNV Germline	Chr9:110775821	Pathogenic	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 9	Criteria Provided Single Submitter	CA374472832	rs_368395413	1 SubmittersRCV003789269
NM_173660.5(DOK7):c.718C>T (p.Gln240Ter)	SNV Germline	Chr4:3489742	Pathogenic	Congenital myasthenic syndrome 10 Fetal akinesia deformation sequence 1	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	Congenital myasthenic syndrome 9 Fetal akinesia deformation sequence 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA374667961	rs_1416057660	2 SubmittersRCV003796367 RCV005001446
NM_005592.4(MUSK):c.754-1G>T	SNV Germline	Chr9:110747640	Likely pathogenic	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 9	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	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 9	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	Congenital myasthenic syndrome 11 Fetal akinesia deformation sequence 1	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	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 11 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	Congenital myasthenic syndrome 10 Fetal akinesia deformation sequence 1	Criteria Provided Single Submitter	CA356114445	rs_781227659	1 SubmittersRCV003801737
NM_005055.5(RAPSN):c.177C>A (p.Tyr59Ter)	SNV Germline	Chr11:47448788	Pathogenic	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 11	Criteria Provided Single Submitter	CA380335746	rs_2076431110	1 SubmittersRCV003809794
NM_173660.5(DOK7):c.958A>T (p.Lys320Ter)	SNV Germline	Chr4:3492944	Pathogenic	Congenital myasthenic syndrome 10 Fetal akinesia deformation sequence 1	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	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 9	Criteria Provided Single Submitter	CA374478162	rs_2491210783	1 SubmittersRCV003810192
NM_005592.4(MUSK):c.1592C>G (p.Ser531Ter)	SNV Germline	Chr9:110785532	Pathogenic	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 9	Criteria Provided Single Submitter	CA374475619	rs_2491151455	1 SubmittersRCV003810302
NM_005592.4(MUSK):c.967G>T (p.Glu323Ter)	SNV Germline	Chr9:110767866	Pathogenic	Fetal akinesia deformation sequence 1 Congenital myasthenic syndrome 9	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	Congenital myasthenic syndrome 9 Fetal akinesia deformation sequence 1	Criteria Provided Single Submitter			1 SubmittersRCV005362216
NM_005592.4(MUSK):c.541C>T (p.Gln181Ter)	SNV Germline	Chr9:110697379	Likely pathogenic	Congenital myasthenic syndrome 9 Fetal akinesia deformation sequence 1	Criteria Provided Single Submitter			1 SubmittersRCV005362217
NM_005592.4(MUSK):c.1185-1G>A	SNV Germline	Chr9:110775787	Likely pathogenic	Congenital myasthenic syndrome 9 Fetal akinesia deformation sequence 1	Criteria Provided Single Submitter			1 SubmittersRCV006591194
NM_173660.5(DOK7):c.652+1G>T	SNV Germline	Chr4:3485659	Likely pathogenic	Congenital myasthenic syndrome 10 Fetal akinesia deformation sequence 1	Criteria Provided Single Submitter			1 SubmittersRCV006599120
NM_173660.5(DOK7):c.1144G>T (p.Glu382Ter)	SNV Germline	Chr4:3493130	Pathogenic	Congenital myasthenic syndrome 10 Fetal akinesia deformation sequence 1	Criteria Provided Single Submitter			1 SubmittersRCV006592566

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

SNV
Germline

Chr18:44951952

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA114715

rs_267607038

12 SubmittersRCV000001086 RCV000255245 RCV001007919 RCV000855501 RCV004532268

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

SNV
Germline

Chr4:3485607

Pathogenic

Congenital myasthenic syndrome 10
Condition: not provided
Congenital myasthenic syndrome 10
Fetal akinesia deformation sequence 1
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 RCV001781161 RCV001851535 RCV005024984 RCV004566668

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

42 SubmittersRCV000008512 RCV000170316 RCV000224062 RCV000286918 RCV000414829 RCV000235028 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
Congenital myasthenic syndrome 11
Fetal akinesia deformation sequence 2
Abnormality of the musculature
Fetal akinesia deformation sequence 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA212886

rs_786200905

11 SubmittersRCV000008517 RCV000235034 RCV000664547 RCV001824563 RCV001813966 RCV003460440 RCV006555284

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 1
RAPSN-related disorder
Congenital myasthenic syndrome 11
Fetal akinesia deformation sequence 1
Fetal akinesia deformation sequence 2

Criteria Provided
Conflicting Classifications

CA119255

rs_104894293

9 SubmittersRCV000008518 RCV000178899 RCV001255415 RCV001336781 RCV001731282 RCV002512911 RCV003460441

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

Criteria Provided
Multiple Submitters
No Conflicts

CA119256

rs_104894294

6 SubmittersRCV000008520 RCV000415079 RCV001343279 RCV003466839 RCV005049323

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

SNV
Germline

Chr11:47448832

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA119257

rs_121909254

10 SubmittersRCV000008521 RCV000704275 RCV000992743 RCV001275253 RCV002476946 RCV003460442

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
RAPSN-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA119258

rs_121909255

5 SubmittersRCV000008522 RCV001231489 RCV003460443 RCV005049324 RCV005632171

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

SNV
Germline

Chr9:110800746

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA249734

rs_199476083

10 SubmittersRCV000008722 RCV000520620 RCV000701593 RCV001329438 RCV003492289

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

SNV
Germline

Chr9:110787726

Conflicting classifications of pathogenicity

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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA090890

rs_587777450

15 SubmittersRCV000125478 RCV000224805 RCV000623552 RCV000855472 RCV003224865 RCV001091982 RCV003147342

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

SNV
Germline

Chr19:38516111

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA024994

rs_587784379

7 SubmittersRCV000147451 RCV000855485 RCV001036190 RCV001004921 RCV003998165

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

SNV
Germline

Chr19:38477821

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA024441

rs_200546266

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

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

SNV
Germline

Chr5:128408688

Likely pathogenic

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

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
not specified

Criteria Provided
Conflicting Classifications

CA018989

rs_786205271

7 SubmittersRCV000171697 RCV000855502 RCV001842522 RCV005480327 RCV006263713

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

SNV
Germline

Chr4:3473645

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA243604

rs_370879328

4 SubmittersRCV000243798 RCV000724336 RCV001080683

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

SNV
Germline

Chr11:47441875

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA275256

rs_559933584

6 SubmittersRCV000178236 RCV001313406 RCV003462285 RCV005049458

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

SNV
Germline

Chr9:110695530

Conflicting classifications of pathogenicity

Condition: not provided
Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 9
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
Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 11

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
Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 10

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

Criteria Provided
Conflicting Classifications

CA247388

rs_141947707

4 SubmittersRCV000254259 RCV000724615 RCV001087618

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

SNV
Germline

Chr4:3493291

Conflicting classifications of pathogenicity

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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA277140

rs_200783529

5 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
Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 9
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

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

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
Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 10
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

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

Criteria Provided
Conflicting Classifications

CA5184149

rs_56044404

7 SubmittersRCV000243198 RCV000309579 RCV000556195 RCV001535426

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

SNV
Germline

Chr9:110785659

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5184433

rs_373118888

4 SubmittersRCV000246294 RCV000537953 RCV001166934 RCV006439887

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

Criteria Provided
Conflicting Classifications

CA5976519

rs_149683345

7 SubmittersRCV000246362 RCV000344045 RCV000402474 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
Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 11
Congenital myasthenic syndrome

Criteria Provided
Conflicting Classifications

CA5976738

rs_56245238

9 SubmittersRCV000247109 RCV000355174 RCV000404374 RCV000726774 RCV001080568 RCV001275248

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

SNV
Germline

Chr11:47448803

Conflicting classifications of pathogenicity

not specified
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

CA5976819

rs_72905825

7 SubmittersRCV000246056 RCV000545779 RCV001105612 RCV001105613 RCV001705366

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

SNV
Germline

Chr11:47449163

Pathogenic/Likely pathogenic

Congenital myasthenic syndrome
Congenital myasthenic syndrome 11
Fetal akinesia deformation sequence 1
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
Arthrogryposis multiplex congenita
Fetal akinesia deformation sequence 1
Microcephaly 5, primary, autosomal recessive

Criteria Provided
Multiple Submitters
No Conflicts

CA10602744

rs_886041709

4 SubmittersRCV000294377 RCV000855492 RCV002503977

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

SNV
Germline

Chr9:110734287

Conflicting classifications of pathogenicity

not specified
Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 9
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
Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 10
not specified

Criteria Provided
Conflicting Classifications

CA2829444

rs_139468087

4 SubmittersRCV000320886 RCV001081974 RCV001660540

NM_173660.5(DOK7):c.1295G>A (p.Arg432Lys)

SNV
Germline

Chr4:3493281

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2829453

rs_145419117

6 SubmittersRCV000387146 RCV000526718 RCV001546231 RCV005821675

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
not specified

Criteria Provided
Conflicting Classifications

CA2828894

rs_201818140

6 SubmittersRCV000329116 RCV001088526 RCV003362744 RCV006452562

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

SNV
Germline

Chr11:47438011

Conflicting classifications of pathogenicity

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

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 11
Congenital myasthenic syndrome

Criteria Provided
Conflicting Classifications

CA5976594

rs_56040810

4 SubmittersRCV000304526 RCV001081237 RCV001106555 RCV001106554 RCV001274406

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

SNV
Germline

Chr9:110775894

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5184320

rs_372013406

3 SubmittersRCV000350489 RCV002524580 RCV005372301

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

SNV
Germline

Chr9:110800476

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5184570

rs_547450130

4 SubmittersRCV000403675 RCV002061309 RCV005672366

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

Criteria Provided
Conflicting Classifications

CA5976676

rs_78293924

3 SubmittersRCV000343403 RCV000392928 RCV000946126 RCV001274412

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
Congenital myasthenic syndrome 11
Fetal akinesia deformation sequence 1

Criteria Provided
Conflicting Classifications

CA10631027

rs_762052702

2 SubmittersRCV000275433 RCV000328229 RCV005209502

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.1250C>T (p.Thr417Ile)

SNV
Germline

Chr9:110775853

Conflicting classifications of pathogenicity

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

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
Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 9

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
Congenital myasthenic syndrome 9
Fetal akinesia deformation sequence 1
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

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

Criteria Provided
Conflicting Classifications

CA10638749

rs_886048388

2 SubmittersRCV000291804 RCV000328166 RCV000980196

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

SNV
Germline

Chr11:47441197

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5976558

rs_367565995

5 SubmittersRCV000358965 RCV000396758 RCV001223828 RCV001833442 RCV003129828 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 11
Congenital myasthenic syndrome
Condition: not provided
RAPSN-related disorder

Criteria Provided
Conflicting Classifications

CA5976732

rs_146237774

5 SubmittersRCV000297949 RCV000405598 RCV000528123 RCV001274414 RCV003133218 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
Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 11
Congenital myasthenic syndrome
Fetal akinesia deformation sequence 2
Congenital myasthenic syndrome 11
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5976748

rs_35810986

6 SubmittersRCV000269370 RCV000366609 RCV000810152 RCV001276398 RCV002480112 RCV004693040

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

SNV
Germline

Chr9:110800743

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16043436

rs_1057518966

2 SubmittersRCV000415334 RCV001198407 RCV003129855

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
Congenital myasthenic syndrome 11
Fetal akinesia deformation sequence 1

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

Criteria Provided
Conflicting Classifications

CA2499591

rs_552094593

7 SubmittersRCV000487962 RCV000855462 RCV001329659 RCV001829394 RCV002528222 RCV003330722

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

SNV
Germline

Chr4:3476523

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA2829017

rs_775583136

5 SubmittersRCV000493977 RCV000679965 RCV001036855 RCV002282177 RCV003470614 RCV005034033

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

Criteria Provided
Multiple Submitters
No Conflicts

CA356113804

rs_1349476281

8 SubmittersRCV000001343 RCV000520261 RCV000767366 RCV003403229 RCV003479149 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
Fetal akinesia deformation sequence 1
Arthrogryposis multiplex congenita
Lethal congenital contracture syndrome 11

Criteria Provided
Multiple Submitters
No Conflicts

CA7560758

rs_750803388

3 SubmittersRCV000524042 RCV000855464 RCV004594071

NM_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
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2829446

rs_377555406

3 SubmittersRCV000537129 RCV002526139 RCV003144335

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

Criteria Provided
Conflicting Classifications

CA2829557

rs_184556570

7 SubmittersRCV000531626 RCV001086530 RCV002491019 RCV004024008 RCV005357588

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
Congenital myasthenic syndrome 10
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2829394

rs_144158112

6 SubmittersRCV000545345 RCV000660547 RCV001532503 RCV002528401

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

SNV
Germline

Chr4:3493332

Conflicting classifications of pathogenicity

Congenital myasthenic syndrome 10
Fetal akinesia deformation sequence 1
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

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

Criteria Provided
Conflicting Classifications

CA5184471

rs_114362384

3 SubmittersRCV000841942 RCV001080574 RCV001168648

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

SNV
Germline

Chr9:110800821

Conflicting classifications of pathogenicity

Congenital myasthenic syndrome 9
Fetal akinesia deformation sequence 1
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

4 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.662G>A (p.Arg221His)

SNV
Germline

Chr11:47442684

Conflicting classifications of pathogenicity

Congenital myasthenic syndrome 11
Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA380331735

rs_1377574572

3 SubmittersRCV000541515 RCV001834812 RCV005712208

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
Congenital myasthenic syndrome 11
RAPSN-related disorder
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5976688

rs_201124957

5 SubmittersRCV000548221 RCV001103570 RCV001103571 RCV004732944 RCV005470468 RCV006277909

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

SNV
Germline

Chr11:47441670

Pathogenic

Congenital myasthenic syndrome 11
Fetal akinesia deformation sequence 1

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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA380334223

rs_1479498379

4 SubmittersRCV000534807 RCV003114675 RCV003470767 RCV004719872

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

SNV
Germline

Chr9:110800670

Conflicting classifications of pathogenicity

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

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
Arthrogryposis multiplex congenita
Fetal akinesia deformation sequence 1
Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 11
Fetal akinesia deformation sequence 2

Criteria Provided
Conflicting Classifications

CA5976768

rs_375218091

6 SubmittersRCV000591406 RCV000855473 RCV001867917 RCV003465332

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

SNV
Germline

Chr9:91733251

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5120886

rs_145631389

4 SubmittersRCV000597894 RCV000855499

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

SNV
Germline

Chr4:3463533

Conflicting classifications of pathogenicity

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

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
Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 9

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

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

Criteria Provided
Conflicting Classifications

CA2829142

rs_146895834

3 SubmittersRCV000641536 RCV003372781 RCV005051809

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

SNV
Germline

Chr4:3492993

Conflicting classifications of pathogenicity

Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 10
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

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

Criteria Provided
Conflicting Classifications

CA2829507

rs_147185207

3 SubmittersRCV000641549 RCV003144415 RCV004752978

NM_173660.5(DOK7):c.812G>C (p.Ser271Thr)

SNV
Germline

Chr4:3492798

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2829235

rs_144592743

6 SubmittersRCV000641551 RCV001591432 RCV003905734 RCV004702234 RCV005809307

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

SNV
Germline

Chr4:3493244

Conflicting classifications of pathogenicity

Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 10
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

Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 10
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

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

Criteria Provided
Conflicting Classifications

CA5184581

rs_376635652

3 SubmittersRCV000653229 RCV002532005 RCV003133467

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

SNV
Germline

Chr9:110800581

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5184582

rs_138418494

7 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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA2828996

rs_770987150

3 SubmittersRCV000679963 RCV001228448 RCV002290973 RCV003465547 RCV005056424

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

SNV
Germline

Chr4:3476491

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2829010

rs_758131044

6 SubmittersRCV000679964 RCV000797959 RCV001784303 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
Congenital myasthenic syndrome 10
Fetal akinesia deformation sequence 1
Fetal akinesia deformation sequence 3
Congenital myasthenic syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA2829019

rs_768892432

5 SubmittersRCV000679966 RCV001269756 RCV001390615 RCV003459655 RCV004768550

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

Congenital myasthenic syndrome 9
Fetal akinesia deformation sequence 1
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
Fetal akinesia deformation sequence 1
Arthrogryposis multiplex congenita
Condition: not provided
Short stature
Brachydactyly type B1
Autosomal recessive Robinow syndrome
Gastric cancer

Criteria Provided
Conflicting Classifications

CA5120613

rs_117134265

8 SubmittersRCV000732649 RCV000855500 RCV000903196 RCV001310261 RCV005047000 RCV005897260

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

SNV
Germline

Chr4:3492943

Conflicting classifications of pathogenicity

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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA5548982

rs_747595523

8 SubmittersRCV000855457 RCV001004046 RCV000791458 RCV001796204

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

SNV
Germline

Chr18:10797517

Pathogenic

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

Criteria Provided
Single Submitter

CA401925060

rs_1568069621

2 SubmittersRCV000779589 RCV000855470

NM_173660.5(DOK7):c.472C>T (p.Arg158Trp)

SNV
Germline

Chr4:3476482

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2829006

rs_753436594

2 SubmittersRCV000796699 RCV003489877

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
Inborn genetic diseases
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2829373

rs_371846002

4 SubmittersRCV000822754 RCV003169039 RCV001731945 RCV001766748

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

SNV
Germline

Chr4:3493154

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2829391

rs_149525610

3 SubmittersRCV000807008 RCV003144630 RCV004028270

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

SNV
Germline

Chr4:3493201

Likely pathogenic

Congenital myasthenic syndrome 10
Fetal akinesia deformation sequence 1

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

Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 9

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

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

Criteria Provided
Conflicting Classifications

CA5976598

rs_374604570

4 SubmittersRCV000850590 RCV002470993 RCV003130080 RCV003467529

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

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

Criteria Provided
Conflicting Classifications

CA602099

rs_79282181

5 SubmittersRCV000855522 RCV002064422 RCV003908141 RCV006448650

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

SNV
Germline

Chr1:197128563

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA1310334

rs_774338373

3 SubmittersRCV000855491 RCV003453775 RCV001816923

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

SNV
Germline

Chr1:229432063

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA345146753

rs_1057521117

4 SubmittersRCV000855456 RCV003517274 RCV005628863 RCV006605306

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

SNV
Germline

Chr2:232528599

Likely pathogenic

Arthrogryposis multiplex congenita
Fetal akinesia deformation sequence 1

Criteria Provided
Single Submitter

CA350998301

rs_1574630583

1 SubmittersRCV000855459

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

SNV
Unknown

Chr4:122239608

Likely pathogenic

Arthrogryposis multiplex congenita
Fetal akinesia deformation sequence 1

Criteria Provided
Single Submitter

CA358089925

rs_1460624416

1 SubmittersRCV000855516

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

SNV
Unknown

Chr4:122336233

Likely pathogenic

Arthrogryposis multiplex congenita
Fetal akinesia deformation sequence 1

Criteria Provided
Single Submitter

CA3067930

rs_777407076

1 SubmittersRCV000855517

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

SNV
Germline

Chr8:18063197

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA370431037

rs_1588980220

2 SubmittersRCV000855490 RCV002536200

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

SNV
Germline

Chr8:18075578

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4651083

rs_200758704

4 SubmittersRCV000855489 RCV000983934 RCV001164025

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

SNV
Germline

Chr11:47441729

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA380329822

rs_1040279711

2 SubmittersRCV000855474 RCV005359606

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

SNV
Germline

Chr12:51699582

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385226373

rs_1592387849

2 SubmittersRCV000855503 RCV001775152

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

SNV
Germline

Chr13:101176356

Likely pathogenic

Arthrogryposis multiplex congenita
Fetal akinesia deformation sequence 1

Criteria Provided
Single Submitter

CA388702919

rs_1594368753

1 SubmittersRCV000855468

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

SNV
Germline

Chr13:101292087

Likely pathogenic

Arthrogryposis multiplex congenita
Fetal akinesia deformation sequence 1

Criteria Provided
Single Submitter

CA388704839

rs_1594616249

1 SubmittersRCV000855467

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

SNV
Unknown

Chr13:101395283

Likely pathogenic

Arthrogryposis multiplex congenita
Fetal akinesia deformation sequence 1

Criteria Provided
Single Submitter

CA7036526

rs_762389271

1 SubmittersRCV000855469

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

SNV
Germline

Chr14:102033428

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7353397

rs_778115137

3 SubmittersRCV000855520 RCV001366306 RCV006450363

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

SNV
Germline

Chr14:102043961

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA488186538

rs_1595633027

2 SubmittersRCV000855523 RCV001367404

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

SNV
Germline

Chr16:23535032

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7962501

rs_749912939

4 SubmittersRCV000855494 RCV001310323 RCV005359607

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

SNV
Germline

Chr17:42683822

Pathogenic

Arthrogryposis multiplex congenita
Fetal akinesia deformation sequence 1

Criteria Provided
Single Submitter

CA399632041

rs_1597802927

1 SubmittersRCV000855460

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

SNV
Germline

Chr17:42690789

Likely pathogenic

Arthrogryposis multiplex congenita
Fetal akinesia deformation sequence 1

Criteria Provided
Single Submitter

CA399642944

rs_1597807901

1 SubmittersRCV000855461

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

SNV
Unknown

Chr17:63959266

Likely pathogenic

Arthrogryposis multiplex congenita
Fetal akinesia deformation sequence 1

Criteria Provided
Single Submitter

CA400631560

rs_1597978607

1 SubmittersRCV000855486

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

SNV
Unknown

Chr18:10855359

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8892803

rs_773449118

2 SubmittersRCV000855471 RCV003147564

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

SNV
Germline

Chr19:35126538

Likely pathogenic

Arthrogryposis multiplex congenita
Fetal akinesia deformation sequence 1

Criteria Provided
Single Submitter

CA405305171

rs_1201430967

1 SubmittersRCV000855466

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

SNV
Germline

Chr19:35131510

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9373323

rs_201728190

2 SubmittersRCV000855465 RCV004820124

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

SNV
Unknown

Chr19:38457540

Likely pathogenic

Arthrogryposis multiplex congenita
Fetal akinesia deformation sequence 1

Criteria Provided
Single Submitter

CA405693870

rs_1600682739

1 SubmittersRCV000855481

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

SNV
Unknown

Chr19:38458292

Likely pathogenic

Arthrogryposis multiplex congenita
Fetal akinesia deformation sequence 1

Criteria Provided
Single Submitter

CA062941

rs_755496104

1 SubmittersRCV000855475

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

SNV
Germline

Chr19:38499991

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA405669567

rs_1600822174

3 SubmittersRCV000855484 RCV002275162 RCV003117621

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

SNV
Germline

Chr19:38504317

Likely pathogenic

Arthrogryposis multiplex congenita
Fetal akinesia deformation sequence 1
Centronuclear myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA405676016

rs_1600843056

2 SubmittersRCV000855478 RCV004586957

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

SNV
Germline

Chr19:38517691

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA405693508

rs_1600892115

2 SubmittersRCV000855480 RCV004803279

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

SNV
Unknown

Chr19:38572270

Likely pathogenic

Arthrogryposis multiplex congenita
Fetal akinesia deformation sequence 1

Criteria Provided
Single Submitter

CA507356267

rs_1599649479

1 SubmittersRCV000855483

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

SNV
Germline

ChrX:153536444

Likely pathogenic

Arthrogryposis multiplex congenita
Fetal akinesia deformation sequence 1

Criteria Provided
Single Submitter

CA415073373

rs_1603040061

1 SubmittersRCV000855493

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

SNV
Germline

Chr4:3485647

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2829097

rs_147760280

5 SubmittersRCV000876533 RCV001560296 RCV004973126

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

SNV
Germline

Chr4:3489689

Conflicting classifications of pathogenicity

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

Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 10
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

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

Criteria Provided
Conflicting Classifications

CA2829544

rs_202073484

6 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
Congenital myasthenic syndrome 9
Fetal akinesia deformation sequence 1
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

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

Criteria Provided
Conflicting Classifications

CA5184424

rs_192173278

4 SubmittersRCV000876872 RCV001166933 RCV003432851 RCV006440282

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
Congenital myasthenic syndrome 11
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5976454

rs_139398367

6 SubmittersRCV000950989 RCV001103493 RCV001274399 RCV001103494 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 1
Congenital myasthenic syndrome 10
Fetal akinesia deformation sequence 3
Congenital myasthenic syndrome 10

Criteria Provided
Conflicting Classifications

CA2828904

rs_546630800

2 SubmittersRCV001071236 RCV002480442

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

Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 10
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

Congenital myasthenic syndrome 9
Fetal akinesia deformation sequence 1

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

Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 9

Criteria Provided
Single Submitter

CA374478388

rs_1238400476

1 SubmittersRCV001064003

NM_005592.4(MUSK):c.2287G>A (p.Ala763Thr)

SNV
Germline

Chr9:110800665

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5184601

rs_199507468

5 SubmittersRCV001041552 RCV001169416 RCV003132154 RCV004587019

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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA5976731

rs_761584017

9 SubmittersRCV001061762 RCV001508667 RCV001832551 RCV003462591 RCV005049755

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

SNV
Germline

Chr11:47447918

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA5976746

rs_368695664

6 SubmittersRCV001066055 RCV001559969 RCV003467832 RCV005432564 RCV005049757

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

Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 10

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

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

Criteria Provided
Conflicting Classifications

CA5184317

rs_368044285

3 SubmittersRCV001166930 RCV001093097 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

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

Criteria Provided
Conflicting Classifications

CA5976740

rs_142635726

3 SubmittersRCV001105498 RCV001105499 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 1
Inborn genetic diseases
Fetal akinesia deformation sequence 2
Congenital myasthenic syndrome 11
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5976756

rs_150756111

6 SubmittersRCV001106664 RCV001106665 RCV001279260 RCV002556089 RCV002556090 RCV002505680 RCV003490075

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

SNV
Germline

Chr11:47441602

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

CA1139661958

rs_751790521

2 SubmittersRCV001106550 RCV001106551 RCV003769096

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

SNV
Germline

Chr11:47441602

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5976590

rs_751790521

4 SubmittersRCV001106552 RCV001106553 RCV001243852 RCV001833706 RCV004538329

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

SNV
Germline

Chr9:110784876

Conflicting classifications of pathogenicity

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

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.94G>A (p.Val32Met)

SNV
Germline

Chr4:3463545

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA356112158

rs_1417673287

2 SubmittersRCV001220031 RCV005633956

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
Condition: not provided
DOK7-related disorder
Congenital myasthenic syndrome 10

Criteria Provided
Conflicting Classifications

CA91528915

rs_940346413

5 SubmittersRCV001223702 RCV003236878 RCV004753240 RCV006446070

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

SNV
Germline

Chr4:3476490

Pathogenic

Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 10
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

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

Criteria Provided
Conflicting Classifications

CA2829246

rs_144269117

2 SubmittersRCV001221305 RCV004619563

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

SNV
Germline

Chr9:110785675

Pathogenic

Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 9

Criteria Provided
Single Submitter

CA5184437

rs_752798426

1 SubmittersRCV001218791

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

SNV
Germline

Chr11:47438833

Pathogenic

Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 11

Criteria Provided
Single Submitter

CA380327642

rs_763094966

1 SubmittersRCV001219154

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

SNV
Germline

Chr4:3476425

Likely pathogenic

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

Criteria Provided
Conflicting Classifications

CA2829014

rs_781227659

4 SubmittersRCV001212330 RCV004690017 RCV003469353 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

Congenital myasthenic syndrome 10
Fetal akinesia deformation sequence 1
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

Congenital myasthenic syndrome 10
Fetal akinesia deformation sequence 1
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

Congenital myasthenic syndrome 9
Fetal akinesia deformation sequence 1
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.676A>G (p.Thr226Ala)

SNV
Germline

Chr4:3489700

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA356115367

rs_1447016347

2 SubmittersRCV006352160 RCV001345610

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

SNV
Germline

Chr4:3492905

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2829553

rs_750262940

3 SubmittersRCV001351240 RCV003169743 RCV003145607

NM_005592.4(MUSK):c.916T>C (p.Trp306Arg)

SNV
Germline

Chr9:110762204

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA374466967

rs_1319203200

2 SubmittersRCV001373745 RCV006377206

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 11
Congenital myasthenic syndrome
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 RCV001563594 RCV001826152 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

Congenital myasthenic syndrome 10
Fetal akinesia deformation sequence 1

Criteria Provided
Single Submitter

CA356117874

rs_745941308

1 SubmittersRCV001381053

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

SNV
Germline

Chr11:47441685

Pathogenic

Congenital myasthenic syndrome 11
Fetal akinesia deformation sequence 1

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

Congenital myasthenic syndrome 11
Fetal akinesia deformation sequence 1
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

Congenital myasthenic syndrome 11
Fetal akinesia deformation sequence 1
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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA221722215

rs_749287203

5 SubmittersRCV001387007 RCV001780357 RCV001826172 RCV005050369

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

SNV
Germline

Chr4:3492802

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2829236

rs_115614731

3 SubmittersRCV001484179 RCV001751773 RCV005330868

NM_005055.5(RAPSN):c.491G>A (p.Arg164His)

SNV
Germline

Chr11:47447852

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5976733

rs_374588028

5 SubmittersRCV003132529 RCV003463061 RCV005050396 RCV006557609

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

SNV
Germline

Chr11:47442667

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA380331566

rs_2153309050

3 SubmittersRCV001783664 RCV001868867 RCV005050409

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

SNV
Germline

Chr11:47448071

Likely pathogenic

Congenital myasthenic syndrome 11
Fetal akinesia deformation sequence 1

Criteria Provided
Single Submitter

CA380334774

rs_375218091

1 SubmittersRCV002034290

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

SNV
Germline

Chr9:110800548

Pathogenic

Congenital myasthenic syndrome 9
Fetal akinesia deformation sequence 1

Criteria Provided
Single Submitter

CA374478415

rs_1255531873

1 SubmittersRCV001994540

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

SNV
Germline

Chr11:47448025

Pathogenic

Congenital myasthenic syndrome 11
Fetal akinesia deformation sequence 1

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

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

Criteria Provided
Conflicting Classifications

CA5184439

rs_202126269

5 SubmittersRCV002012049 RCV003130632 RCV004587265 RCV006249788

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

SNV
Germline

Chr11:47448071

Likely pathogenic

Congenital myasthenic syndrome 11
Fetal akinesia deformation sequence 1

Criteria Provided
Single Submitter

CA5976767

rs_375218091

1 SubmittersRCV001892251

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

SNV
Germline

Chr4:3473604

Pathogenic

Congenital myasthenic syndrome 10
Fetal akinesia deformation sequence 1

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

Congenital myasthenic syndrome 10
Fetal akinesia deformation sequence 1

Criteria Provided
Single Submitter

CA356114241

rs_779798129

1 SubmittersRCV001929294

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

SNV
Germline

Chr11:47442809

Pathogenic

Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 11

Criteria Provided
Single Submitter

CA380332505

rs_1015604630

1 SubmittersRCV001899155

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

SNV
Germline

Chr4:3476446

Likely pathogenic

Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 10

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

Congenital myasthenic syndrome 10
Fetal akinesia deformation sequence 1
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

Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 11

Criteria Provided
Single Submitter

CA380337433

rs_2076433607

1 SubmittersRCV001909290

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

SNV
Germline

Chr9:110785719

Likely pathogenic

Congenital myasthenic syndrome 9
Fetal akinesia deformation sequence 1

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

Criteria Provided
Multiple Submitters
No Conflicts

CA2828993

rs_771995943

4 SubmittersRCV002281329 RCV003331339 RCV003471305 RCV003774920

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

SNV
Germline

Chr11:47448063

Conflicting classifications of pathogenicity

not specified
Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 11
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_173660.5(DOK7):c.451C>T (p.Gln151Ter)

SNV
Germline

Chr4:3476461

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA2829001

rs_763262694

4 SubmittersRCV002470160 RCV003340496 RCV003475390 RCV006559475

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

SNV
Germline

Chr9:110800736

Pathogenic

Congenital myasthenic syndrome 9
Fetal akinesia deformation sequence 1

Criteria Provided
Single Submitter

CA374479440

rs_867146882

1 SubmittersRCV003066491

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

SNV
Germline

Chr11:47438925

Pathogenic

Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 11

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

Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 11

Criteria Provided
Single Submitter

CA221723367

rs_121909254

1 SubmittersRCV002579002

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

SNV
Germline

Chr11:47448962

Pathogenic

Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 11

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

Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 11

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
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA2829007

rs_754633490

2 SubmittersRCV002671810 RCV005635590

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

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

Criteria Provided
Conflicting Classifications

CA438362577

rs_768322699

2 SubmittersRCV003146640 RCV002776484

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

Congenital myasthenic syndrome 9
Fetal akinesia deformation sequence 1

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 10
Congenital myasthenic syndrome

Criteria Provided
Conflicting Classifications

CA2828984

rs_763494431

4 SubmittersRCV002876544 RCV004571404 RCV005409895 RCV004765582

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

Congenital myasthenic syndrome 11
Fetal akinesia deformation sequence 1
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
Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 10
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
Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 9

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

Congenital myasthenic syndrome 10
Fetal akinesia deformation sequence 1

Criteria Provided
Single Submitter

CA356115885

rs_1268475752

1 SubmittersRCV003782020

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

SNV
Germline

Chr4:3476340

Likely pathogenic

Congenital myasthenic syndrome 10
Fetal akinesia deformation sequence 1

Criteria Provided
Single Submitter

CA356114057

rs_1480670755

1 SubmittersRCV003782240

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

SNV
Germline

Chr4:3473495

Likely pathogenic

Congenital myasthenic syndrome 10
Fetal akinesia deformation sequence 1

Criteria Provided
Single Submitter

CA356113311

rs_1246160310

1 SubmittersRCV003796003

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

SNV
Germline

Chr9:110687116

Likely pathogenic

Congenital myasthenic syndrome 9
Fetal akinesia deformation sequence 1

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

Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 9

Criteria Provided
Single Submitter

CA198339781

rs_866186589

1 SubmittersRCV003795734

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

SNV
Germline

Chr9:110775964

Likely pathogenic

Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 9

Criteria Provided
Single Submitter

CA374473428

rs_2491098868

1 SubmittersRCV003793156

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

SNV
Germline

Chr9:110775786

Likely pathogenic

Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 9

Criteria Provided
Single Submitter

CA374472566

rs_2491096235

1 SubmittersRCV003793173

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

SNV
Germline

Chr11:47441922

Likely pathogenic

Congenital myasthenic syndrome 11
Fetal akinesia deformation sequence 1

Criteria Provided
Single Submitter

CA380330635

rs_2076368824

1 SubmittersRCV003780098

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

SNV
Germline

Chr9:110775821

Pathogenic

Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 9

Criteria Provided
Single Submitter

CA374472832

rs_368395413

1 SubmittersRCV003789269

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

SNV
Germline

Chr4:3489742

Pathogenic

Congenital myasthenic syndrome 10
Fetal akinesia deformation sequence 1

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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA374667961

rs_1416057660

2 SubmittersRCV003796367 RCV005001446

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

SNV
Germline

Chr9:110747640

Likely pathogenic

Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 9

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

Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 9

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

Congenital myasthenic syndrome 11
Fetal akinesia deformation sequence 1

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

Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 11
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

Congenital myasthenic syndrome 10
Fetal akinesia deformation sequence 1

Criteria Provided
Single Submitter

CA356114445

rs_781227659

1 SubmittersRCV003801737

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

SNV
Germline

Chr11:47448788

Pathogenic

Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 11

Criteria Provided
Single Submitter

CA380335746

rs_2076431110

1 SubmittersRCV003809794

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

SNV
Germline

Chr4:3492944

Pathogenic

Congenital myasthenic syndrome 10
Fetal akinesia deformation sequence 1

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

Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 9

Criteria Provided
Single Submitter

CA374478162

rs_2491210783

1 SubmittersRCV003810192

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

SNV
Germline

Chr9:110785532

Pathogenic

Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 9

Criteria Provided
Single Submitter

CA374475619

rs_2491151455

1 SubmittersRCV003810302

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

SNV
Germline

Chr9:110767866

Pathogenic

Fetal akinesia deformation sequence 1
Congenital myasthenic syndrome 9

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

Congenital myasthenic syndrome 9
Fetal akinesia deformation sequence 1

Criteria Provided
Single Submitter

1 SubmittersRCV005362216

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

SNV
Germline

Chr9:110697379

Likely pathogenic

Congenital myasthenic syndrome 9
Fetal akinesia deformation sequence 1

Criteria Provided
Single Submitter

1 SubmittersRCV005362217

NM_005592.4(MUSK):c.1185-1G>A

SNV
Germline

Chr9:110775787

Likely pathogenic

Congenital myasthenic syndrome 9
Fetal akinesia deformation sequence 1

Criteria Provided
Single Submitter

1 SubmittersRCV006591194

NM_173660.5(DOK7):c.652+1G>T

SNV
Germline

Chr4:3485659

Likely pathogenic

Congenital myasthenic syndrome 10
Fetal akinesia deformation sequence 1

Criteria Provided
Single Submitter

1 SubmittersRCV006599120

NM_173660.5(DOK7):c.1144G>T (p.Glu382Ter)

SNV
Germline

Chr4:3493130

Pathogenic

Congenital myasthenic syndrome 10
Fetal akinesia deformation sequence 1

Criteria Provided
Single Submitter

1 SubmittersRCV006592566