Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_173660.5(DOK7):c.539G>C (p.Gly180Ala)	SNV Germline	Chr4:3485545	Likely pathogenic	Congenital myasthenic syndrome 10 Condition: not provided Congenital myasthenic syndrome	Criteria Provided Multiple Submitters No Conflicts	CA251738	rs_118203994	3 SubmittersRCV000001340 RCV003238720 RCV005887165
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_173660.5(DOK7):c.55-1G>T	SNV Germline	Chr4:3463505	Pathogenic	Congenital myasthenic syndrome 10	No Assertion Criteria Provided	CA278854	rs_863223277	1 SubmittersRCV000001342
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_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_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_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_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_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_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_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_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_173660.5(DOK7):c.199C>T (p.Pro67Ser)	SNV Germline	Chr4:3473504	Pathogenic	Congenital myasthenic syndrome 10	No Assertion Criteria Provided	CA356113348	rs_1553846331	1 SubmittersRCV000655895
NM_173660.5(DOK7):c.1061C>T (p.Ser354Phe)	SNV Germline	Chr4:3493047	Pathogenic	Congenital myasthenic syndrome 10	No Assertion Criteria Provided	CA2829343	rs_756015202	1 SubmittersRCV000655928
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_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_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_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_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_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_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_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_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_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_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_173660.5(DOK7):c.653-1G>C	SNV Germline	Chr4:3489676	Likely pathogenic	Congenital myasthenic syndrome 10 Fetal akinesia deformation sequence 3	Criteria Provided Single Submitter		rs_1449351306	1 SubmittersRCV005027329
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_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_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_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_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_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_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_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_173660.5(DOK7):c.325G>A (p.Gly109Ser)	SNV Germline	Chr4:3473630	Conflicting classifications of pathogenicity	Congenital myasthenic syndrome 10 Condition: not provided	Criteria Provided Conflicting Classifications	CA2828932	rs_762952740	2 SubmittersRCV002249920 RCV005639399
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_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_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_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_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_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_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_173660.5(DOK7):c.533-2A>G	SNV Germline	Chr4:3485537	Conflicting classifications of pathogenicity	Congenital myasthenic syndrome 10	Criteria Provided Conflicting Classifications	CA356114853	rs_2475052844	2 SubmittersRCV003226032
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_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_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_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_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_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_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_173660.5(DOK7):c.886C>T (p.Gln296Ter)	SNV Germline	Chr4:3492872	Likely pathogenic	Fetal akinesia deformation sequence 3 Congenital myasthenic syndrome 10 Fetal akinesia deformation sequence 3	Criteria Provided Multiple Submitters No Conflicts		rs_1460112018	2 SubmittersRCV005023577 RCV004575831
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_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_173660.5(DOK7):c.539G>C (p.Gly180Ala)

SNV
Germline

Chr4:3485545

Likely pathogenic

Congenital myasthenic syndrome 10
Condition: not provided
Congenital myasthenic syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA251738

rs_118203994

3 SubmittersRCV000001340 RCV003238720 RCV005887165

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_173660.5(DOK7):c.55-1G>T

SNV
Germline

Chr4:3463505

Pathogenic

Congenital myasthenic syndrome 10

No Assertion Criteria Provided

CA278854

rs_863223277

1 SubmittersRCV000001342

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_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_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_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_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_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_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_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_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_173660.5(DOK7):c.199C>T (p.Pro67Ser)

SNV
Germline

Chr4:3473504

Pathogenic

Congenital myasthenic syndrome 10

No Assertion Criteria Provided

CA356113348

rs_1553846331

1 SubmittersRCV000655895

NM_173660.5(DOK7):c.1061C>T (p.Ser354Phe)

SNV
Germline

Chr4:3493047

Pathogenic

Congenital myasthenic syndrome 10

No Assertion Criteria Provided

CA2829343

rs_756015202

1 SubmittersRCV000655928

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_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_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_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_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_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_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_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_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_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_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_173660.5(DOK7):c.653-1G>C

SNV
Germline

Chr4:3489676

Likely pathogenic

Congenital myasthenic syndrome 10
Fetal akinesia deformation sequence 3

Criteria Provided
Single Submitter

rs_1449351306

1 SubmittersRCV005027329

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_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_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_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_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_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_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_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_173660.5(DOK7):c.325G>A (p.Gly109Ser)

SNV
Germline

Chr4:3473630

Conflicting classifications of pathogenicity

Congenital myasthenic syndrome 10
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2828932

rs_762952740

2 SubmittersRCV002249920 RCV005639399

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_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_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_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_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_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_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_173660.5(DOK7):c.533-2A>G

SNV
Germline

Chr4:3485537

Conflicting classifications of pathogenicity

Congenital myasthenic syndrome 10

Criteria Provided
Conflicting Classifications

CA356114853

rs_2475052844

2 SubmittersRCV003226032

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_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_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_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_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_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_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_173660.5(DOK7):c.886C>T (p.Gln296Ter)

SNV
Germline

Chr4:3492872

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1460112018

2 SubmittersRCV005023577 RCV004575831

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_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