Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_004082.5(DCTN1):c.175G>A (p.Gly59Ser)	SNV Germline	Chr2:74378104	Pathogenic	Neuronopathy, distal hereditary motor, type 7B Hereditary motor neuron disease Perry syndrome Neuronopathy, distal hereditary motor, type 7B Amyotrophic lateral sclerosis type 1 Perry syndrome	Criteria Provided Single Submitter	CA340781	rs_121909342	4 SubmittersRCV000008909 RCV000789086 RCV000644484 RCV003447080
NM_004082.5(DCTN1):c.2353C>T (p.Arg785Trp)	SNV Germline	Chr2:74366896	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis, susceptibility to Perry syndrome Neuronopathy, distal hereditary motor, type 7B Amyotrophic lateral sclerosis type 1 Condition: not provided Charcot-Marie-Tooth disease Amyotrophic lateral sclerosis type 1 Neuronopathy, distal hereditary motor, type 7B Perry syndrome Inborn genetic diseases DCTN1-related disorder	Criteria Provided Conflicting Classifications	CA119587	rs_121909344	13 SubmittersRCV000008912 RCV000644476 RCV001572734 RCV000144867 RCV000986781 RCV001140673 RCV001140674 RCV002444424 RCV003952351
NM_004082.5(DCTN1):c.211G>A (p.Gly71Arg)	SNV Germline	Chr2:74378068	Conflicting classifications of pathogenicity	Perry syndrome Neuronopathy, distal hereditary motor, type 7B	No Assertion Criteria Provided	CA340782	rs_72466485	4 SubmittersRCV000008914 RCV004766988
NM_004082.5(DCTN1):c.221A>C (p.Gln74Pro)	SNV Germline	Chr2:74378058	Pathogenic	Perry syndrome Condition: not provided	Criteria Provided Single Submitter	CA340783	rs_72466487	3 SubmittersRCV000008915 RCV001531490
NM_004082.5(DCTN1):c.212G>A (p.Gly71Glu)	SNV Germline	Chr2:74378067	Pathogenic	Perry syndrome Condition: not provided Amyotrophic lateral sclerosis type 1 Neuronopathy, distal hereditary motor, type 7B Perry syndrome	Criteria Provided Multiple Submitters No Conflicts	CA342007	rs_67586389	6 SubmittersRCV000020576 RCV001531491 RCV003764613
NM_004082.5(DCTN1):c.1484G>A (p.Arg495Gln)	SNV Germline	Chr2:74369400	Conflicting classifications of pathogenicity	not specified Neuronopathy, distal hereditary motor, type 7B Perry syndrome Amyotrophic lateral sclerosis type 1 Perry syndrome Neuronopathy, distal hereditary motor, type 7B Condition: not provided Amyotrophic lateral sclerosis	Criteria Provided Conflicting Classifications	CA1722134	rs_17721059	10 SubmittersRCV000252177 RCV000267301 RCV000323911 RCV000547912 RCV001706341 RCV001260195
NM_004082.5(DCTN1):c.200G>A (p.Gly67Asp)	SNV Germline	Chr2:74378079	Conflicting classifications of pathogenicity	Perry syndrome	No Assertion Criteria Provided	CA10588002	rs_886039228	2 SubmittersRCV001849545
NM_004082.5(DCTN1):c.156T>G (p.Phe52Leu)	SNV Germline	Chr2:74378123	Likely pathogenic	Condition: not provided Perry syndrome	Criteria Provided Single Submitter	CA10588003	rs_886039227	2 SubmittersRCV002273417 RCV003447330
NM_004082.5(DCTN1):c.414+1G>A	SNV Germline	Chr2:74376741	Conflicting classifications of pathogenicity	Condition: not provided Perry syndrome Amyotrophic lateral sclerosis type 1 Neuronopathy, distal hereditary motor, type 7B See cases Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1722488	rs_576198476	5 SubmittersRCV000332896 RCV000765701 RCV002252080 RCV002328763
NM_004082.5(DCTN1):c.1692C>T (p.Ala564=)	SNV Germline	Chr2:74369107	Conflicting classifications of pathogenicity	Condition: not provided Amyotrophic lateral sclerosis type 1 Neuronopathy, distal hereditary motor, type 7B Perry syndrome	Criteria Provided Conflicting Classifications	CA10605739	rs_886043620	2 SubmittersRCV000313236 RCV003765649
NM_004082.5(DCTN1):c.3478A>C (p.Asn1160His)	SNV Germline	Chr2:74363045	Conflicting classifications of pathogenicity	Perry syndrome Neuronopathy, distal hereditary motor, type 7B Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1721483	rs_747831061	2 SubmittersRCV000298494 RCV000355587 RCV004609361
NM_004082.5(DCTN1):c.1140T>G (p.Leu380=)	SNV Germline	Chr2:74370333	Conflicting classifications of pathogenicity	Perry syndrome Neuronopathy, distal hereditary motor, type 7B Inborn genetic diseases Amyotrophic lateral sclerosis type 1 Neuronopathy, distal hereditary motor, type 7B Perry syndrome DCTN1-related disorder	Criteria Provided Conflicting Classifications	CA10613975	rs_886056332	4 SubmittersRCV000296007 RCV000387824 RCV002450911 RCV002519986 RCV004745346
NM_004082.5(DCTN1):c.2753C>A (p.Pro918His)	SNV Germline	Chr2:74366251	Conflicting classifications of pathogenicity	Neuronopathy, distal hereditary motor, type 7B Perry syndrome Amyotrophic lateral sclerosis type 1 Neuronopathy, distal hereditary motor, type 7B Perry syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1721748	rs_771075973	3 SubmittersRCV000269835 RCV000327510 RCV001861154 RCV002523140
NM_004082.5(DCTN1):c.2002C>T (p.His668Tyr)	SNV Germline	Chr2:74367984	Conflicting classifications of pathogenicity	Neuronopathy, distal hereditary motor, type 7B Amyotrophic lateral sclerosis type 1 Neuronopathy, distal hereditary motor, type 7B Perry syndrome Perry syndrome DCTN1-related disorder Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA1721991	rs_764443534	6 SubmittersRCV000308445 RCV000696804 RCV000392721 RCV003969969 RCV002418203 RCV005230266
NM_004082.5(DCTN1):c.1129A>C (p.Met377Leu)	SNV Germline	Chr2:74370344	Conflicting classifications of pathogenicity	Neuronopathy, distal hereditary motor, type 7B Perry syndrome Amyotrophic lateral sclerosis type 1 Neuronopathy, distal hereditary motor, type 7B Perry syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1722228	rs_570863800	3 SubmittersRCV000343892 RCV000399184 RCV000699176 RCV002519987
NM_004082.5(DCTN1):c.586A>G (p.Ile196Val)	SNV Germline	Chr2:74371596	Conflicting classifications of pathogenicity	Perry syndrome Neuronopathy, distal hereditary motor, type 7B not specified Condition: not provided Neuronopathy, distal hereditary motor, type 7B Perry syndrome Amyotrophic lateral sclerosis type 1 Amyotrophic lateral sclerosis	Criteria Provided Conflicting Classifications	CA1722375	rs_55862001	11 SubmittersRCV000333493 RCV000380851 RCV000507449 RCV000541293 RCV001084399 RCV001260196
NM_004082.5(DCTN1):c.3759G>A (p.Ala1253=)	SNV Germline	Chr2:74361577	Conflicting classifications of pathogenicity	Perry syndrome Neuronopathy, distal hereditary motor, type 7B Inborn genetic diseases Amyotrophic lateral sclerosis type 1 Neuronopathy, distal hereditary motor, type 7B Perry syndrome	Criteria Provided Conflicting Classifications	CA10615998	rs_886056328	3 SubmittersRCV000298235 RCV000353157 RCV002348089 RCV000704940
NM_004082.5(DCTN1):c.3197-13A>G	SNV Germline	Chr2:74363641	Conflicting classifications of pathogenicity	Perry syndrome Neuronopathy, distal hereditary motor, type 7B Amyotrophic lateral sclerosis type 1 Neuronopathy, distal hereditary motor, type 7B Perry syndrome Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA1721587	rs_374049568	4 SubmittersRCV000311315 RCV000392129 RCV002057711 RCV005230265 RCV005238924
NM_004082.5(DCTN1):c.60G>A (p.Ala20=)	SNV Germline	Chr2:74378219	Conflicting classifications of pathogenicity	Perry syndrome Neuronopathy, distal hereditary motor, type 7B Condition: not provided Neuronopathy, distal hereditary motor, type 7B Perry syndrome Amyotrophic lateral sclerosis type 1 DCTN1-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1722613	rs_150204862	5 SubmittersRCV000288698 RCV000327299 RCV000555240 RCV001088611 RCV003969970 RCV002356469
NM_004082.5(DCTN1):c.2278A>G (p.Met760Val)	SNV Germline	Chr2:74367083	Conflicting classifications of pathogenicity	Neuronopathy, distal hereditary motor, type 7B Perry syndrome Neuronopathy, distal hereditary motor, type 7B Perry syndrome Amyotrophic lateral sclerosis type 1 Condition: not provided not specified Inborn genetic diseases DCTN1-related disorder	Criteria Provided Conflicting Classifications	CA1721887	rs_754780894	6 SubmittersRCV000278941 RCV000336449 RCV000555724 RCV000997172 RCV000517874 RCV002446597 RCV003418060
NM_004082.5(DCTN1):c.1065A>T (p.Ala355=)	SNV Germline	Chr2:74370528	Conflicting classifications of pathogenicity	Neuronopathy, distal hereditary motor, type 7B Perry syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10616196	rs_886056333	2 SubmittersRCV000308960 RCV000347523 RCV002411237
NM_004082.5(DCTN1):c.3010C>G (p.Leu1004Val)	SNV Germline	Chr2:74365534	Conflicting classifications of pathogenicity	Condition: not provided Perry syndrome Amyotrophic lateral sclerosis type 1 Neuronopathy, distal hereditary motor, type 7B DCTN1-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1721654	rs_758387062	4 SubmittersRCV000479029 RCV001463517 RCV003900024 RCV002438188
NM_004082.5(DCTN1):c.3128G>A (p.Arg1043His)	SNV Germline	Chr2:74365143	Conflicting classifications of pathogenicity	Condition: not provided Amyotrophic lateral sclerosis type 1 Perry syndrome Neuronopathy, distal hereditary motor, type 7B	Criteria Provided Conflicting Classifications	CA1721621	rs_776489779	3 SubmittersRCV000488183 RCV000558488
NM_004082.5(DCTN1):c.3699+16G>A	SNV Germline	Chr2:74362036	Conflicting classifications of pathogenicity	Condition: not provided Perry syndrome Neuronopathy, distal hereditary motor, type 7B Amyotrophic lateral sclerosis type 1	Criteria Provided Conflicting Classifications	CA1721392	rs_747490958	3 SubmittersRCV000514278 RCV002524983
NM_004082.5(DCTN1):c.837G>A (p.Ala279=)	SNV Germline	Chr2:74370985	Conflicting classifications of pathogenicity	Condition: not provided not specified Amyotrophic lateral sclerosis type 1 Perry syndrome Neuronopathy, distal hereditary motor, type 7B DCTN1-related disorder	Criteria Provided Conflicting Classifications	CA1722318	rs_72466489	5 SubmittersRCV000585130 RCV000516655 RCV001088199 RCV003942686
NM_004082.5(DCTN1):c.442C>T (p.Arg148Trp)	SNV Germline	Chr2:74372939	Conflicting classifications of pathogenicity	Condition: not provided not specified Neuronopathy, distal hereditary motor, type 7B Perry syndrome Neuronopathy, distal hereditary motor, type 7B Amyotrophic lateral sclerosis type 1	Criteria Provided Conflicting Classifications	CA1722418	rs_148810193	5 SubmittersRCV000517517 RCV005056104 RCV001329176 RCV000644478
NM_004082.5(DCTN1):c.279+1G>C	SNV Germline	Chr2:74377999	Pathogenic/Likely pathogenic	Condition: not provided Perry syndrome Neuronopathy, distal hereditary motor, type 7B Amyotrophic lateral sclerosis type 1 Amyotrophic lateral sclerosis	Criteria Provided Multiple Submitters No Conflicts	CA347321489	rs_1393363759	3 SubmittersRCV000516456 RCV001232579 RCV003993994
NM_004082.5(DCTN1):c.40A>G (p.Ser14Gly)	SNV Germline	Chr2:74378239	Conflicting classifications of pathogenicity	Perry syndrome Neuronopathy, distal hereditary motor, type 7B Amyotrophic lateral sclerosis type 1 Condition: not provided DCTN1-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1722618	rs_758320436	4 SubmittersRCV000529783 RCV000516591 RCV003935364 RCV004023504
NM_004082.5(DCTN1):c.673C>T (p.Arg225Trp)	SNV Germline	Chr2:74371149	Conflicting classifications of pathogenicity	Condition: not provided Neuronopathy, distal hereditary motor, type 7B Amyotrophic lateral sclerosis type 1 Perry syndrome Neuronopathy, distal hereditary motor, type 7B Perry syndrome Parkinsonian disorder DCTN1-related disorder not specified Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1722338	rs_371723224	8 SubmittersRCV000756010 RCV000644472 RCV001137903 RCV001137904 RCV002272277 RCV003900094 RCV005239134 RCV002527653
NM_004082.5(DCTN1):c.788G>T (p.Ser263Ile)	SNV Germline	Chr2:74371034	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 1 Perry syndrome Neuronopathy, distal hereditary motor, type 7B Perry syndrome Neuronopathy, distal hereditary motor, type 7B Condition: not provided	Criteria Provided Conflicting Classifications	CA1722324	rs_368273709	3 SubmittersRCV000536156 RCV001137901 RCV001137902 RCV003311840
NM_004082.5(DCTN1):c.3558G>A (p.Met1186Ile)	SNV Germline	Chr2:74362701	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 1 Perry syndrome Neuronopathy, distal hereditary motor, type 7B Charcot-Marie-Tooth disease Inborn genetic diseases DCTN1-related disorder Neuronopathy, distal hereditary motor, type 7B	Criteria Provided Conflicting Classifications	CA1721440	rs_200834352	5 SubmittersRCV000644479 RCV001027492 RCV002458080 RCV003965364 RCV005357855
NM_004082.5(DCTN1):c.3127C>T (p.Arg1043Cys)	SNV Germline	Chr2:74365144	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 1 Perry syndrome Neuronopathy, distal hereditary motor, type 7B Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1721622	rs_140066692	3 SubmittersRCV000644468 RCV002528909
NM_004082.5(DCTN1):c.3557T>C (p.Met1186Thr)	SNV Germline	Chr2:74362702	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 1 Perry syndrome Neuronopathy, distal hereditary motor, type 7B Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA1721441	rs_145819459	4 SubmittersRCV000694263 RCV002458247 RCV001811448
NM_004082.5(DCTN1):c.446G>A (p.Arg149Gln)	SNV Germline	Chr2:74372935	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 1 Neuronopathy, distal hereditary motor, type 7B Perry syndrome Inborn genetic diseases DCTN1-related disorder not specified	Criteria Provided Conflicting Classifications	CA1722416	rs_149447433	4 SubmittersRCV000685358 RCV002331324 RCV004723063 RCV005436007
NM_004082.5(DCTN1):c.232T>C (p.Tyr78His)	SNV Germline	Chr2:74378047	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 1 Neuronopathy, distal hereditary motor, type 7B Perry syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA347321804	rs_1558948987	2 SubmittersRCV000707148 RCV005051823
NM_004082.5(DCTN1):c.2747G>A (p.Arg916Gln)	SNV Germline	Chr2:74366257	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 1 Perry syndrome Neuronopathy, distal hereditary motor, type 7B Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1721750	rs_375079576	2 SubmittersRCV000692480 RCV002440457
NM_004082.5(DCTN1):c.1997C>T (p.Thr666Met)	SNV Germline	Chr2:74367989	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 1 Perry syndrome Neuronopathy, distal hereditary motor, type 7B Condition: not provided Inborn genetic diseases DCTN1-related disorder	Criteria Provided Conflicting Classifications	CA1721993	rs_143914684	5 SubmittersRCV000688124 RCV001558947 RCV002422480 RCV003403590
NM_004082.5(DCTN1):c.2633A>G (p.Tyr878Cys)	SNV Germline	Chr2:74366371	Conflicting classifications of pathogenicity	Neuronopathy, distal hereditary motor, type 7B Perry syndrome Neuronopathy, distal hereditary motor, type 7B Amyotrophic lateral sclerosis type 1 Inborn genetic diseases Perry syndrome not specified	Criteria Provided Conflicting Classifications	CA1721780	rs_778201974	4 SubmittersRCV001139901 RCV000689468 RCV002458218 RCV001139900 RCV005240470
NM_004082.5(DCTN1):c.279+1G>T	SNV Germline	Chr2:74377999	Pathogenic/Likely pathogenic	Condition: not provided Hereditary motor neuron disease Amyotrophic lateral sclerosis type 1 Perry syndrome Neuronopathy, distal hereditary motor, type 7B	Criteria Provided Multiple Submitters No Conflicts	CA347321486	rs_1393363759	4 SubmittersRCV000991877 RCV001027493 RCV000685402
NM_004082.5(DCTN1):c.3712C>G (p.Gln1238Glu)	SNV Germline	Chr2:74361624	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 1 Neuronopathy, distal hereditary motor, type 7B Perry syndrome Neuronopathy, distal hereditary motor, type 7B Perry syndrome	Criteria Provided Conflicting Classifications	CA1721367	rs_778307537	2 SubmittersRCV000810721 RCV001142311 RCV001142312
NM_004082.5(DCTN1):c.3217A>G (p.Ile1073Val)	SNV Germline	Chr2:74363422	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 1 Perry syndrome Neuronopathy, distal hereditary motor, type 7B Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA1721542	rs_757034536	3 SubmittersRCV000812480 RCV002442720 RCV004584806
NM_004082.5(DCTN1):c.2883T>G (p.Ile961Met)	SNV Germline	Chr2:74365896	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 1 Perry syndrome Neuronopathy, distal hereditary motor, type 7B Condition: not provided DCTN1-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1721696	rs_754893423	4 SubmittersRCV000820552 RCV001508445 RCV003413655 RCV004609549
NM_004082.5(DCTN1):c.2551C>G (p.Leu851Val)	SNV Germline	Chr2:74366536	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 1 Perry syndrome Neuronopathy, distal hereditary motor, type 7B Inborn genetic diseases Condition: not provided DCTN1-related disorder	Criteria Provided Conflicting Classifications	CA1721809	rs_72659379	4 SubmittersRCV000810084 RCV002440741 RCV004721629 RCV004745603
NM_004082.5(DCTN1):c.1225C>T (p.Arg409Trp)	SNV Germline	Chr2:74370248	Conflicting classifications of pathogenicity	Perry syndrome Amyotrophic lateral sclerosis type 1 Neuronopathy, distal hereditary motor, type 7B Frontotemporal dementia Inborn genetic diseases Condition: not provided DCTN1-related disorder	Criteria Provided Conflicting Classifications	CA1722213	rs_150368544	6 SubmittersRCV000803250 RCV001849104 RCV002537155 RCV003480838 RCV004745594
NM_004082.5(DCTN1):c.1470C>T (p.Asp490=)	SNV Germline	Chr2:74369414	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 1 Neuronopathy, distal hereditary motor, type 7B Perry syndrome DCTN1-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA1722141	rs_199751168	4 SubmittersRCV000873667 RCV003920425 RCV004808931
NM_004082.5(DCTN1):c.2559C>T (p.Ala853=)	SNV Germline	Chr2:74366528	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 1 Neuronopathy, distal hereditary motor, type 7B Perry syndrome Perry syndrome Neuronopathy, distal hereditary motor, type 7B DCTN1-related disorder	Criteria Provided Conflicting Classifications	CA1721808	rs_770872113	3 SubmittersRCV000902820 RCV001139902 RCV001139903 RCV003958170
NM_004082.5(DCTN1):c.2511C>T (p.Val837=)	SNV Germline	Chr2:74366576	Conflicting classifications of pathogenicity	Condition: not provided Amyotrophic lateral sclerosis type 1 Neuronopathy, distal hereditary motor, type 7B Perry syndrome	Criteria Provided Conflicting Classifications	CA1721816	rs_377519506	3 SubmittersRCV000932597 RCV001394946
NM_004082.5(DCTN1):c.279+1G>A	SNV Germline	Chr2:74377999	Conflicting classifications of pathogenicity	Condition: not provided Amyotrophic lateral sclerosis type 1 Perry syndrome Neuronopathy, distal hereditary motor, type 7B	Criteria Provided Conflicting Classifications	CA347321491	rs_1393363759	3 SubmittersRCV000991876 RCV001858742
NM_004082.5(DCTN1):c.1226G>A (p.Arg409Gln)	SNV Germline	Chr2:74370247	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 1 Perry syndrome Neuronopathy, distal hereditary motor, type 7B Inborn genetic diseases DCTN1-related disorder	Criteria Provided Conflicting Classifications	CA1722212	rs_142318791	3 SubmittersRCV001047005 RCV002553156 RCV003973033
NM_004082.5(DCTN1):c.2794C>T (p.Arg932Cys)	SNV Germline	Chr2:74365985	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis DCTN1-related disorder Condition: not provided Amyotrophic lateral sclerosis type 1 Neuronopathy, distal hereditary motor, type 7B Perry syndrome	Criteria Provided Conflicting Classifications	CA1721712	rs_373818927	4 SubmittersRCV001095496 RCV003396746 RCV005256741 RCV002554876
NM_004082.5(DCTN1):c.94C>T (p.Arg32Cys)	SNV Germline	Chr2:74378185	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis Amyotrophic lateral sclerosis type 1 Neuronopathy, distal hereditary motor, type 7B Perry syndrome	Criteria Provided Conflicting Classifications	CA1722603	rs_751177222	2 SubmittersRCV001095500 RCV001856287
NM_004082.5(DCTN1):c.3799G>C (p.Glu1267Gln)	SNV Germline	Chr2:74361537	Conflicting classifications of pathogenicity	Neuronopathy, distal hereditary motor, type 7B Perry syndrome Inborn genetic diseases Amyotrophic lateral sclerosis type 1 Neuronopathy, distal hereditary motor, type 7B Perry syndrome DCTN1-related disorder	Criteria Provided Conflicting Classifications	CA1721345	rs_146083590	5 SubmittersRCV001140456 RCV001140457 RCV002365810 RCV001858917 RCV004726899
NM_004082.5(DCTN1):c.3621C>T (p.Leu1207=)	SNV Germline	Chr2:74362130	Conflicting classifications of pathogenicity	Neuronopathy, distal hereditary motor, type 7B Perry syndrome Perry syndrome Neuronopathy, distal hereditary motor, type 7B Amyotrophic lateral sclerosis type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA50474016	rs_1032786897	3 SubmittersRCV001137570 RCV001137569 RCV002070612 RCV003456474
NM_004082.5(DCTN1):c.3291C>T (p.Ile1097=)	SNV Germline	Chr2:74363348	Conflicting classifications of pathogenicity	Perry syndrome Neuronopathy, distal hereditary motor, type 7B Amyotrophic lateral sclerosis type 1 Neuronopathy, distal hereditary motor, type 7B Perry syndrome	Criteria Provided Conflicting Classifications	CA1721531	rs_769145486	2 SubmittersRCV001140573 RCV001140572 RCV002556995
NM_004082.5(DCTN1):c.1059C>T (p.Gly353=)	SNV Germline	Chr2:74370534	Conflicting classifications of pathogenicity	Neuronopathy, distal hereditary motor, type 7B Perry syndrome Perry syndrome Neuronopathy, distal hereditary motor, type 7B Amyotrophic lateral sclerosis type 1 DCTN1-related disorder Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1722254	rs_771325809	5 SubmittersRCV001142643 RCV001142642 RCV001448727 RCV003898138 RCV005232134 RCV005550143
NM_004082.5(DCTN1):c.3733A>G (p.Met1245Val)	SNV Germline	Chr2:74361603	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 1 Perry syndrome Neuronopathy, distal hereditary motor, type 7B Inborn genetic diseases DCTN1-related disorder	Criteria Provided Conflicting Classifications	CA50473946	rs_969899022	3 SubmittersRCV001239607 RCV002348816 RCV004746286
NM_004082.5(DCTN1):c.2015+3A>G	SNV Germline	Chr2:74367968	Conflicting classifications of pathogenicity	Perry syndrome Amyotrophic lateral sclerosis type 1 Neuronopathy, distal hereditary motor, type 7B Inborn genetic diseases Neuronopathy, distal hereditary motor, type 7B	Criteria Provided Conflicting Classifications	CA1721986	rs_200057343	3 SubmittersRCV001301332 RCV002418908 RCV001336113
NM_004082.5(DCTN1):c.200G>T (p.Gly67Val)	SNV Germline	Chr2:74378079	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 1 Neuronopathy, distal hereditary motor, type 7B Perry syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA347322090	rs_886039228	2 SubmittersRCV001372956 RCV003229051
NM_004082.5(DCTN1):c.2761-5C>T	SNV Germline	Chr2:74366023	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 1 Neuronopathy, distal hereditary motor, type 7B Perry syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1721724	rs_749706596	2 SubmittersRCV001440364 RCV003160771
NM_004082.5(DCTN1):c.280-5C>T	SNV Germline	Chr2:74377731	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 1 Neuronopathy, distal hereditary motor, type 7B Perry syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1261398783	rs_1675307447	2 SubmittersRCV001477056 RCV003375315
NM_004082.5(DCTN1):c.3796C>A (p.Gln1266Lys)	SNV Germline	Chr2:74361540	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 1 Perry syndrome Neuronopathy, distal hereditary motor, type 7B Condition: not provided Amyotrophic lateral sclerosis	Criteria Provided Conflicting Classifications	CA1721346	rs_538932463	3 SubmittersRCV001881760 RCV004693874 RCV005626533
NM_004082.5(DCTN1):c.2426A>T (p.Asp809Val)	SNV Germline	Chr2:74366823	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 1 Perry syndrome Neuronopathy, distal hereditary motor, type 7B Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1721848	rs_781268909	2 SubmittersRCV001882382 RCV005552484
NM_004082.5(DCTN1):c.3823C>T (p.Arg1275Cys)	SNV Germline	Chr2:74361513	Likely pathogenic	Amyotrophic lateral sclerosis type 1 Perry syndrome Neuronopathy, distal hereditary motor, type 7B	Criteria Provided Single Submitter	CA1721339	rs_766653950	1 SubmittersRCV001973433
NM_004082.5(DCTN1):c.3529+3A>G	SNV Germline	Chr2:74362991	Conflicting classifications of pathogenicity	Perry syndrome Neuronopathy, distal hereditary motor, type 7B Amyotrophic lateral sclerosis type 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1721471	rs_370727908	2 SubmittersRCV001928976 RCV002458819
NM_004082.5(DCTN1):c.613G>C (p.Gly205Arg)	SNV Germline	Chr2:74371569	Conflicting classifications of pathogenicity	Perry syndrome Amyotrophic lateral sclerosis type 1 Neuronopathy, distal hereditary motor, type 7B Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1722369	rs_770153273	2 SubmittersRCV001988163 RCV002352696
NM_004082.5(DCTN1):c.1082A>G (p.Lys361Arg)	SNV Germline	Chr2:74370511	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 1 Perry syndrome Neuronopathy, distal hereditary motor, type 7B Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA347363286	rs_1299296008	2 SubmittersRCV002040556 RCV003303635
NM_004082.5(DCTN1):c.73C>T (p.Arg25Trp)	SNV Germline	Chr2:74378206	Conflicting classifications of pathogenicity	Perry syndrome Amyotrophic lateral sclerosis type 1 Neuronopathy, distal hereditary motor, type 7B Perry syndrome	Criteria Provided Conflicting Classifications	CA1722607	rs_756611519	2 SubmittersRCV001995802 RCV002295358
NM_004082.5(DCTN1):c.175G>C (p.Gly59Arg)	SNV Germline	Chr2:74378104	Pathogenic	Neuronopathy, distal hereditary motor, type 7B Amyotrophic lateral sclerosis type 1 Perry syndrome Perry syndrome	Criteria Provided Single Submitter	CA347322341	rs_121909342	2 SubmittersRCV001972819 RCV003447327
NM_004082.5(DCTN1):c.1490G>A (p.Arg497His)	SNV Germline	Chr2:74369394	Conflicting classifications of pathogenicity	Perry syndrome Neuronopathy, distal hereditary motor, type 7B Amyotrophic lateral sclerosis type 1 Inborn genetic diseases DCTN1-related disorder	Criteria Provided Conflicting Classifications	CA1722132	rs_369086889	3 SubmittersRCV001952438 RCV004975915 RCV004746518
NM_004082.5(DCTN1):c.432+1G>T	SNV Germline	Chr2:74374322	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 1 Neuronopathy, distal hereditary motor, type 7B Perry syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA347370064	rs_1235693710	2 SubmittersRCV001895182 RCV002276921
NM_004082.5(DCTN1):c.325C>A (p.Pro109Thr)	SNV Germline	Chr2:74377681	Conflicting classifications of pathogenicity	Inborn genetic diseases Amyotrophic lateral sclerosis type 1 Neuronopathy, distal hereditary motor, type 7B Perry syndrome	Criteria Provided Conflicting Classifications	CA1722553	rs_146896442	2 SubmittersRCV002324945 RCV003099343
NM_004082.5(DCTN1):c.359-6C>T	SNV Germline	Chr2:74377472	Conflicting classifications of pathogenicity	Inborn genetic diseases Amyotrophic lateral sclerosis type 1 Neuronopathy, distal hereditary motor, type 7B Perry syndrome	Criteria Provided Conflicting Classifications	CA50439611	rs_374167619	2 SubmittersRCV002339845 RCV003775676
NM_004082.5(DCTN1):c.2389T>C (p.Phe797Leu)	SNV Germline	Chr2:74366860	Conflicting classifications of pathogenicity	Inborn genetic diseases Amyotrophic lateral sclerosis type 1 Neuronopathy, distal hereditary motor, type 7B Perry syndrome	Criteria Provided Conflicting Classifications	CA1721857	rs_772608973	2 SubmittersRCV002459546 RCV003775221
NM_004082.5(DCTN1):c.2623G>A (p.Glu875Lys)	SNV Germline	Chr2:74366464	Conflicting classifications of pathogenicity	Inborn genetic diseases Amyotrophic lateral sclerosis type 1 Neuronopathy, distal hereditary motor, type 7B Perry syndrome	Criteria Provided Conflicting Classifications	CA1721795	rs_201063854	2 SubmittersRCV002437243 RCV003102042
NM_004082.5(DCTN1):c.3700-6C>A	SNV Germline	Chr2:74361642	Conflicting classifications of pathogenicity	Neuronopathy, distal hereditary motor, type 7B Amyotrophic lateral sclerosis type 1 Perry syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA1721372	rs_371163273	2 SubmittersRCV003002240 RCV004999847
NM_004082.5(DCTN1):c.279+2T>C	SNV Germline	Chr2:74377998	Pathogenic	Neuronopathy, distal hereditary motor, type 7B Perry syndrome	Criteria Provided Single Submitter	CA347321483	rs_1553466434	2 SubmittersRCV003223522 RCV003447338
NM_004082.5(DCTN1):c.279G>C (p.Gln93His)	SNV Germline	Chr2:74378000	Likely pathogenic	Condition: not provided Amyotrophic lateral sclerosis type 1 Perry syndrome Neuronopathy, distal hereditary motor, type 7B	Criteria Provided Multiple Submitters No Conflicts	CA347321496	rs_1675325580	2 SubmittersRCV003321436 RCV003777323
NM_004082.5(DCTN1):c.3403T>C (p.Ser1135Pro)	SNV Germline	Chr2:74363120	Conflicting classifications of pathogenicity	Inborn genetic diseases Condition: not provided Amyotrophic lateral sclerosis type 1 Neuronopathy, distal hereditary motor, type 7B Perry syndrome	Criteria Provided Conflicting Classifications	CA1721492	rs_763226083	3 SubmittersRCV004375449 RCV004790656 RCV005209664

NM_004082.5(DCTN1):c.175G>A (p.Gly59Ser)

SNV
Germline

Chr2:74378104

Pathogenic

Neuronopathy, distal hereditary motor, type 7B
Hereditary motor neuron disease
Perry syndrome
Neuronopathy, distal hereditary motor, type 7B
Amyotrophic lateral sclerosis type 1
Perry syndrome

Criteria Provided
Single Submitter

CA340781

rs_121909342

4 SubmittersRCV000008909 RCV000789086 RCV000644484 RCV003447080

NM_004082.5(DCTN1):c.2353C>T (p.Arg785Trp)

SNV
Germline

Chr2:74366896

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis, susceptibility to
Perry syndrome
Neuronopathy, distal hereditary motor, type 7B
Amyotrophic lateral sclerosis type 1
Condition: not provided
Charcot-Marie-Tooth disease
Amyotrophic lateral sclerosis type 1
Neuronopathy, distal hereditary motor, type 7B
Perry syndrome
Inborn genetic diseases
DCTN1-related disorder

Criteria Provided
Conflicting Classifications

CA119587

rs_121909344

13 SubmittersRCV000008912 RCV000644476 RCV001572734 RCV000144867 RCV000986781 RCV001140673 RCV001140674 RCV002444424 RCV003952351

NM_004082.5(DCTN1):c.211G>A (p.Gly71Arg)

SNV
Germline

Chr2:74378068

Conflicting classifications of pathogenicity

Perry syndrome
Neuronopathy, distal hereditary motor, type 7B

No Assertion Criteria Provided

CA340782

rs_72466485

4 SubmittersRCV000008914 RCV004766988

NM_004082.5(DCTN1):c.221A>C (p.Gln74Pro)

SNV
Germline

Chr2:74378058

Pathogenic

Perry syndrome
Condition: not provided

Criteria Provided
Single Submitter

CA340783

rs_72466487

3 SubmittersRCV000008915 RCV001531490

NM_004082.5(DCTN1):c.212G>A (p.Gly71Glu)

SNV
Germline

Chr2:74378067

Pathogenic

Perry syndrome
Condition: not provided
Amyotrophic lateral sclerosis type 1
Neuronopathy, distal hereditary motor, type 7B
Perry syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA342007

rs_67586389

6 SubmittersRCV000020576 RCV001531491 RCV003764613

NM_004082.5(DCTN1):c.1484G>A (p.Arg495Gln)

SNV
Germline

Chr2:74369400

Conflicting classifications of pathogenicity

not specified
Neuronopathy, distal hereditary motor, type 7B
Perry syndrome
Amyotrophic lateral sclerosis type 1
Perry syndrome
Neuronopathy, distal hereditary motor, type 7B
Condition: not provided
Amyotrophic lateral sclerosis

Criteria Provided
Conflicting Classifications

CA1722134

rs_17721059

10 SubmittersRCV000252177 RCV000267301 RCV000323911 RCV000547912 RCV001706341 RCV001260195

NM_004082.5(DCTN1):c.200G>A (p.Gly67Asp)

SNV
Germline

Chr2:74378079

Conflicting classifications of pathogenicity

Perry syndrome

No Assertion Criteria Provided

CA10588002

rs_886039228

2 SubmittersRCV001849545

NM_004082.5(DCTN1):c.156T>G (p.Phe52Leu)

SNV
Germline

Chr2:74378123

Likely pathogenic

Condition: not provided
Perry syndrome

Criteria Provided
Single Submitter

CA10588003

rs_886039227

2 SubmittersRCV002273417 RCV003447330

NM_004082.5(DCTN1):c.414+1G>A

SNV
Germline

Chr2:74376741

Conflicting classifications of pathogenicity

Condition: not provided
Perry syndrome
Amyotrophic lateral sclerosis type 1
Neuronopathy, distal hereditary motor, type 7B
See cases
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1722488

rs_576198476

5 SubmittersRCV000332896 RCV000765701 RCV002252080 RCV002328763

NM_004082.5(DCTN1):c.1692C>T (p.Ala564=)

SNV
Germline

Chr2:74369107

Conflicting classifications of pathogenicity

Condition: not provided
Amyotrophic lateral sclerosis type 1
Neuronopathy, distal hereditary motor, type 7B
Perry syndrome

Criteria Provided
Conflicting Classifications

CA10605739

rs_886043620

2 SubmittersRCV000313236 RCV003765649

NM_004082.5(DCTN1):c.3478A>C (p.Asn1160His)

SNV
Germline

Chr2:74363045

Conflicting classifications of pathogenicity

Perry syndrome
Neuronopathy, distal hereditary motor, type 7B
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1721483

rs_747831061

2 SubmittersRCV000298494 RCV000355587 RCV004609361

NM_004082.5(DCTN1):c.1140T>G (p.Leu380=)

SNV
Germline

Chr2:74370333

Conflicting classifications of pathogenicity

Perry syndrome
Neuronopathy, distal hereditary motor, type 7B
Inborn genetic diseases
Amyotrophic lateral sclerosis type 1
Neuronopathy, distal hereditary motor, type 7B
Perry syndrome
DCTN1-related disorder

Criteria Provided
Conflicting Classifications

CA10613975

rs_886056332

4 SubmittersRCV000296007 RCV000387824 RCV002450911 RCV002519986 RCV004745346

NM_004082.5(DCTN1):c.2753C>A (p.Pro918His)

SNV
Germline

Chr2:74366251

Conflicting classifications of pathogenicity

Neuronopathy, distal hereditary motor, type 7B
Perry syndrome
Amyotrophic lateral sclerosis type 1
Neuronopathy, distal hereditary motor, type 7B
Perry syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1721748

rs_771075973

3 SubmittersRCV000269835 RCV000327510 RCV001861154 RCV002523140

NM_004082.5(DCTN1):c.2002C>T (p.His668Tyr)

SNV
Germline

Chr2:74367984

Conflicting classifications of pathogenicity

Neuronopathy, distal hereditary motor, type 7B
Amyotrophic lateral sclerosis type 1
Neuronopathy, distal hereditary motor, type 7B
Perry syndrome
Perry syndrome
DCTN1-related disorder
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1721991

rs_764443534

6 SubmittersRCV000308445 RCV000696804 RCV000392721 RCV003969969 RCV002418203 RCV005230266

NM_004082.5(DCTN1):c.1129A>C (p.Met377Leu)

SNV
Germline

Chr2:74370344

Conflicting classifications of pathogenicity

Neuronopathy, distal hereditary motor, type 7B
Perry syndrome
Amyotrophic lateral sclerosis type 1
Neuronopathy, distal hereditary motor, type 7B
Perry syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1722228

rs_570863800

3 SubmittersRCV000343892 RCV000399184 RCV000699176 RCV002519987

NM_004082.5(DCTN1):c.586A>G (p.Ile196Val)

SNV
Germline

Chr2:74371596

Conflicting classifications of pathogenicity

Perry syndrome
Neuronopathy, distal hereditary motor, type 7B
not specified
Condition: not provided
Neuronopathy, distal hereditary motor, type 7B
Perry syndrome
Amyotrophic lateral sclerosis type 1
Amyotrophic lateral sclerosis

Criteria Provided
Conflicting Classifications

CA1722375

rs_55862001

11 SubmittersRCV000333493 RCV000380851 RCV000507449 RCV000541293 RCV001084399 RCV001260196

NM_004082.5(DCTN1):c.3759G>A (p.Ala1253=)

SNV
Germline

Chr2:74361577

Conflicting classifications of pathogenicity

Perry syndrome
Neuronopathy, distal hereditary motor, type 7B
Inborn genetic diseases
Amyotrophic lateral sclerosis type 1
Neuronopathy, distal hereditary motor, type 7B
Perry syndrome

Criteria Provided
Conflicting Classifications

CA10615998

rs_886056328

3 SubmittersRCV000298235 RCV000353157 RCV002348089 RCV000704940

NM_004082.5(DCTN1):c.3197-13A>G

SNV
Germline

Chr2:74363641

Conflicting classifications of pathogenicity

Perry syndrome
Neuronopathy, distal hereditary motor, type 7B
Amyotrophic lateral sclerosis type 1
Neuronopathy, distal hereditary motor, type 7B
Perry syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA1721587

rs_374049568

4 SubmittersRCV000311315 RCV000392129 RCV002057711 RCV005230265 RCV005238924

NM_004082.5(DCTN1):c.60G>A (p.Ala20=)

SNV
Germline

Chr2:74378219

Conflicting classifications of pathogenicity

Perry syndrome
Neuronopathy, distal hereditary motor, type 7B
Condition: not provided
Neuronopathy, distal hereditary motor, type 7B
Perry syndrome
Amyotrophic lateral sclerosis type 1
DCTN1-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1722613

rs_150204862

5 SubmittersRCV000288698 RCV000327299 RCV000555240 RCV001088611 RCV003969970 RCV002356469

NM_004082.5(DCTN1):c.2278A>G (p.Met760Val)

SNV
Germline

Chr2:74367083

Conflicting classifications of pathogenicity

Neuronopathy, distal hereditary motor, type 7B
Perry syndrome
Neuronopathy, distal hereditary motor, type 7B
Perry syndrome
Amyotrophic lateral sclerosis type 1
Condition: not provided
not specified
Inborn genetic diseases
DCTN1-related disorder

Criteria Provided
Conflicting Classifications

CA1721887

rs_754780894

6 SubmittersRCV000278941 RCV000336449 RCV000555724 RCV000997172 RCV000517874 RCV002446597 RCV003418060

NM_004082.5(DCTN1):c.1065A>T (p.Ala355=)

SNV
Germline

Chr2:74370528

Conflicting classifications of pathogenicity

Neuronopathy, distal hereditary motor, type 7B
Perry syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10616196

rs_886056333

2 SubmittersRCV000308960 RCV000347523 RCV002411237

NM_004082.5(DCTN1):c.3010C>G (p.Leu1004Val)

SNV
Germline

Chr2:74365534

Conflicting classifications of pathogenicity

Condition: not provided
Perry syndrome
Amyotrophic lateral sclerosis type 1
Neuronopathy, distal hereditary motor, type 7B
DCTN1-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1721654

rs_758387062

4 SubmittersRCV000479029 RCV001463517 RCV003900024 RCV002438188

NM_004082.5(DCTN1):c.3128G>A (p.Arg1043His)

SNV
Germline

Chr2:74365143

Conflicting classifications of pathogenicity

Condition: not provided
Amyotrophic lateral sclerosis type 1
Perry syndrome
Neuronopathy, distal hereditary motor, type 7B

Criteria Provided
Conflicting Classifications

CA1721621

rs_776489779

3 SubmittersRCV000488183 RCV000558488

NM_004082.5(DCTN1):c.3699+16G>A

SNV
Germline

Chr2:74362036

Conflicting classifications of pathogenicity

Condition: not provided
Perry syndrome
Neuronopathy, distal hereditary motor, type 7B
Amyotrophic lateral sclerosis type 1

Criteria Provided
Conflicting Classifications

CA1721392

rs_747490958

3 SubmittersRCV000514278 RCV002524983

NM_004082.5(DCTN1):c.837G>A (p.Ala279=)

SNV
Germline

Chr2:74370985

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Amyotrophic lateral sclerosis type 1
Perry syndrome
Neuronopathy, distal hereditary motor, type 7B
DCTN1-related disorder

Criteria Provided
Conflicting Classifications

CA1722318

rs_72466489

5 SubmittersRCV000585130 RCV000516655 RCV001088199 RCV003942686

NM_004082.5(DCTN1):c.442C>T (p.Arg148Trp)

SNV
Germline

Chr2:74372939

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Neuronopathy, distal hereditary motor, type 7B
Perry syndrome
Neuronopathy, distal hereditary motor, type 7B
Amyotrophic lateral sclerosis type 1

Criteria Provided
Conflicting Classifications

CA1722418

rs_148810193

5 SubmittersRCV000517517 RCV005056104 RCV001329176 RCV000644478

NM_004082.5(DCTN1):c.279+1G>C

SNV
Germline

Chr2:74377999

Pathogenic/Likely pathogenic

Condition: not provided
Perry syndrome
Neuronopathy, distal hereditary motor, type 7B
Amyotrophic lateral sclerosis type 1
Amyotrophic lateral sclerosis

Criteria Provided
Multiple Submitters
No Conflicts

CA347321489

rs_1393363759

3 SubmittersRCV000516456 RCV001232579 RCV003993994

NM_004082.5(DCTN1):c.40A>G (p.Ser14Gly)

SNV
Germline

Chr2:74378239

Conflicting classifications of pathogenicity

Perry syndrome
Neuronopathy, distal hereditary motor, type 7B
Amyotrophic lateral sclerosis type 1
Condition: not provided
DCTN1-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1722618

rs_758320436

4 SubmittersRCV000529783 RCV000516591 RCV003935364 RCV004023504

NM_004082.5(DCTN1):c.673C>T (p.Arg225Trp)

SNV
Germline

Chr2:74371149

Conflicting classifications of pathogenicity

Condition: not provided
Neuronopathy, distal hereditary motor, type 7B
Amyotrophic lateral sclerosis type 1
Perry syndrome
Neuronopathy, distal hereditary motor, type 7B
Perry syndrome
Parkinsonian disorder
DCTN1-related disorder
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1722338

rs_371723224

8 SubmittersRCV000756010 RCV000644472 RCV001137903 RCV001137904 RCV002272277 RCV003900094 RCV005239134 RCV002527653

NM_004082.5(DCTN1):c.788G>T (p.Ser263Ile)

SNV
Germline

Chr2:74371034

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 1
Perry syndrome
Neuronopathy, distal hereditary motor, type 7B
Perry syndrome
Neuronopathy, distal hereditary motor, type 7B
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1722324

rs_368273709

3 SubmittersRCV000536156 RCV001137901 RCV001137902 RCV003311840

NM_004082.5(DCTN1):c.3558G>A (p.Met1186Ile)

SNV
Germline

Chr2:74362701

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 1
Perry syndrome
Neuronopathy, distal hereditary motor, type 7B
Charcot-Marie-Tooth disease
Inborn genetic diseases
DCTN1-related disorder
Neuronopathy, distal hereditary motor, type 7B

Criteria Provided
Conflicting Classifications

CA1721440

rs_200834352

5 SubmittersRCV000644479 RCV001027492 RCV002458080 RCV003965364 RCV005357855

NM_004082.5(DCTN1):c.3127C>T (p.Arg1043Cys)

SNV
Germline

Chr2:74365144

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 1
Perry syndrome
Neuronopathy, distal hereditary motor, type 7B
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1721622

rs_140066692

3 SubmittersRCV000644468 RCV002528909

NM_004082.5(DCTN1):c.3557T>C (p.Met1186Thr)

SNV
Germline

Chr2:74362702

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 1
Perry syndrome
Neuronopathy, distal hereditary motor, type 7B
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1721441

rs_145819459

4 SubmittersRCV000694263 RCV002458247 RCV001811448

NM_004082.5(DCTN1):c.446G>A (p.Arg149Gln)

SNV
Germline

Chr2:74372935

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 1
Neuronopathy, distal hereditary motor, type 7B
Perry syndrome
Inborn genetic diseases
DCTN1-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA1722416

rs_149447433

4 SubmittersRCV000685358 RCV002331324 RCV004723063 RCV005436007

NM_004082.5(DCTN1):c.232T>C (p.Tyr78His)

SNV
Germline

Chr2:74378047

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 1
Neuronopathy, distal hereditary motor, type 7B
Perry syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA347321804

rs_1558948987

2 SubmittersRCV000707148 RCV005051823

NM_004082.5(DCTN1):c.2747G>A (p.Arg916Gln)

SNV
Germline

Chr2:74366257

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 1
Perry syndrome
Neuronopathy, distal hereditary motor, type 7B
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1721750

rs_375079576

2 SubmittersRCV000692480 RCV002440457

NM_004082.5(DCTN1):c.1997C>T (p.Thr666Met)

SNV
Germline

Chr2:74367989

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 1
Perry syndrome
Neuronopathy, distal hereditary motor, type 7B
Condition: not provided
Inborn genetic diseases
DCTN1-related disorder

Criteria Provided
Conflicting Classifications

CA1721993

rs_143914684

5 SubmittersRCV000688124 RCV001558947 RCV002422480 RCV003403590

NM_004082.5(DCTN1):c.2633A>G (p.Tyr878Cys)

SNV
Germline

Chr2:74366371

Conflicting classifications of pathogenicity

Neuronopathy, distal hereditary motor, type 7B
Perry syndrome
Neuronopathy, distal hereditary motor, type 7B
Amyotrophic lateral sclerosis type 1
Inborn genetic diseases
Perry syndrome
not specified

Criteria Provided
Conflicting Classifications

CA1721780

rs_778201974

4 SubmittersRCV001139901 RCV000689468 RCV002458218 RCV001139900 RCV005240470

NM_004082.5(DCTN1):c.279+1G>T

SNV
Germline

Chr2:74377999

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary motor neuron disease
Amyotrophic lateral sclerosis type 1
Perry syndrome
Neuronopathy, distal hereditary motor, type 7B

Criteria Provided
Multiple Submitters
No Conflicts

CA347321486

rs_1393363759

4 SubmittersRCV000991877 RCV001027493 RCV000685402

NM_004082.5(DCTN1):c.3712C>G (p.Gln1238Glu)

SNV
Germline

Chr2:74361624

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 1
Neuronopathy, distal hereditary motor, type 7B
Perry syndrome
Neuronopathy, distal hereditary motor, type 7B
Perry syndrome

Criteria Provided
Conflicting Classifications

CA1721367

rs_778307537

2 SubmittersRCV000810721 RCV001142311 RCV001142312

NM_004082.5(DCTN1):c.3217A>G (p.Ile1073Val)

SNV
Germline

Chr2:74363422

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 1
Perry syndrome
Neuronopathy, distal hereditary motor, type 7B
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1721542

rs_757034536

3 SubmittersRCV000812480 RCV002442720 RCV004584806

NM_004082.5(DCTN1):c.2883T>G (p.Ile961Met)

SNV
Germline

Chr2:74365896

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 1
Perry syndrome
Neuronopathy, distal hereditary motor, type 7B
Condition: not provided
DCTN1-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1721696

rs_754893423

4 SubmittersRCV000820552 RCV001508445 RCV003413655 RCV004609549

NM_004082.5(DCTN1):c.2551C>G (p.Leu851Val)

SNV
Germline

Chr2:74366536

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 1
Perry syndrome
Neuronopathy, distal hereditary motor, type 7B
Inborn genetic diseases
Condition: not provided
DCTN1-related disorder

Criteria Provided
Conflicting Classifications

CA1721809

rs_72659379

4 SubmittersRCV000810084 RCV002440741 RCV004721629 RCV004745603

NM_004082.5(DCTN1):c.1225C>T (p.Arg409Trp)

SNV
Germline

Chr2:74370248

Conflicting classifications of pathogenicity

Perry syndrome
Amyotrophic lateral sclerosis type 1
Neuronopathy, distal hereditary motor, type 7B
Frontotemporal dementia
Inborn genetic diseases
Condition: not provided
DCTN1-related disorder

Criteria Provided
Conflicting Classifications

CA1722213

rs_150368544

6 SubmittersRCV000803250 RCV001849104 RCV002537155 RCV003480838 RCV004745594

NM_004082.5(DCTN1):c.1470C>T (p.Asp490=)

SNV
Germline

Chr2:74369414

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 1
Neuronopathy, distal hereditary motor, type 7B
Perry syndrome
DCTN1-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1722141

rs_199751168

4 SubmittersRCV000873667 RCV003920425 RCV004808931

NM_004082.5(DCTN1):c.2559C>T (p.Ala853=)

SNV
Germline

Chr2:74366528

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 1
Neuronopathy, distal hereditary motor, type 7B
Perry syndrome
Perry syndrome
Neuronopathy, distal hereditary motor, type 7B
DCTN1-related disorder

Criteria Provided
Conflicting Classifications

CA1721808

rs_770872113

3 SubmittersRCV000902820 RCV001139902 RCV001139903 RCV003958170

NM_004082.5(DCTN1):c.2511C>T (p.Val837=)

SNV
Germline

Chr2:74366576

Conflicting classifications of pathogenicity

Condition: not provided
Amyotrophic lateral sclerosis type 1
Neuronopathy, distal hereditary motor, type 7B
Perry syndrome

Criteria Provided
Conflicting Classifications

CA1721816

rs_377519506

3 SubmittersRCV000932597 RCV001394946

NM_004082.5(DCTN1):c.279+1G>A

SNV
Germline

Chr2:74377999

Conflicting classifications of pathogenicity

Condition: not provided
Amyotrophic lateral sclerosis type 1
Perry syndrome
Neuronopathy, distal hereditary motor, type 7B

Criteria Provided
Conflicting Classifications

CA347321491

rs_1393363759

3 SubmittersRCV000991876 RCV001858742

NM_004082.5(DCTN1):c.1226G>A (p.Arg409Gln)

SNV
Germline

Chr2:74370247

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 1
Perry syndrome
Neuronopathy, distal hereditary motor, type 7B
Inborn genetic diseases
DCTN1-related disorder

Criteria Provided
Conflicting Classifications

CA1722212

rs_142318791

3 SubmittersRCV001047005 RCV002553156 RCV003973033

NM_004082.5(DCTN1):c.2794C>T (p.Arg932Cys)

SNV
Germline

Chr2:74365985

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis
DCTN1-related disorder
Condition: not provided
Amyotrophic lateral sclerosis type 1
Neuronopathy, distal hereditary motor, type 7B
Perry syndrome

Criteria Provided
Conflicting Classifications

CA1721712

rs_373818927

4 SubmittersRCV001095496 RCV003396746 RCV005256741 RCV002554876

NM_004082.5(DCTN1):c.94C>T (p.Arg32Cys)

SNV
Germline

Chr2:74378185

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis
Amyotrophic lateral sclerosis type 1
Neuronopathy, distal hereditary motor, type 7B
Perry syndrome

Criteria Provided
Conflicting Classifications

CA1722603

rs_751177222

2 SubmittersRCV001095500 RCV001856287

NM_004082.5(DCTN1):c.3799G>C (p.Glu1267Gln)

SNV
Germline

Chr2:74361537

Conflicting classifications of pathogenicity

Neuronopathy, distal hereditary motor, type 7B
Perry syndrome
Inborn genetic diseases
Amyotrophic lateral sclerosis type 1
Neuronopathy, distal hereditary motor, type 7B
Perry syndrome
DCTN1-related disorder

Criteria Provided
Conflicting Classifications

CA1721345

rs_146083590

5 SubmittersRCV001140456 RCV001140457 RCV002365810 RCV001858917 RCV004726899

NM_004082.5(DCTN1):c.3621C>T (p.Leu1207=)

SNV
Germline

Chr2:74362130

Conflicting classifications of pathogenicity

Neuronopathy, distal hereditary motor, type 7B
Perry syndrome
Perry syndrome
Neuronopathy, distal hereditary motor, type 7B
Amyotrophic lateral sclerosis type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA50474016

rs_1032786897

3 SubmittersRCV001137570 RCV001137569 RCV002070612 RCV003456474

NM_004082.5(DCTN1):c.3291C>T (p.Ile1097=)

SNV
Germline

Chr2:74363348

Conflicting classifications of pathogenicity

Perry syndrome
Neuronopathy, distal hereditary motor, type 7B
Amyotrophic lateral sclerosis type 1
Neuronopathy, distal hereditary motor, type 7B
Perry syndrome

Criteria Provided
Conflicting Classifications

CA1721531

rs_769145486

2 SubmittersRCV001140573 RCV001140572 RCV002556995

NM_004082.5(DCTN1):c.1059C>T (p.Gly353=)

SNV
Germline

Chr2:74370534

Conflicting classifications of pathogenicity

Neuronopathy, distal hereditary motor, type 7B
Perry syndrome
Perry syndrome
Neuronopathy, distal hereditary motor, type 7B
Amyotrophic lateral sclerosis type 1
DCTN1-related disorder
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1722254

rs_771325809

5 SubmittersRCV001142643 RCV001142642 RCV001448727 RCV003898138 RCV005232134 RCV005550143

NM_004082.5(DCTN1):c.3733A>G (p.Met1245Val)

SNV
Germline

Chr2:74361603

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 1
Perry syndrome
Neuronopathy, distal hereditary motor, type 7B
Inborn genetic diseases
DCTN1-related disorder

Criteria Provided
Conflicting Classifications

CA50473946

rs_969899022

3 SubmittersRCV001239607 RCV002348816 RCV004746286

NM_004082.5(DCTN1):c.2015+3A>G

SNV
Germline

Chr2:74367968

Conflicting classifications of pathogenicity

Perry syndrome
Amyotrophic lateral sclerosis type 1
Neuronopathy, distal hereditary motor, type 7B
Inborn genetic diseases
Neuronopathy, distal hereditary motor, type 7B

Criteria Provided
Conflicting Classifications

CA1721986

rs_200057343

3 SubmittersRCV001301332 RCV002418908 RCV001336113

NM_004082.5(DCTN1):c.200G>T (p.Gly67Val)

SNV
Germline

Chr2:74378079

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 1
Neuronopathy, distal hereditary motor, type 7B
Perry syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA347322090

rs_886039228

2 SubmittersRCV001372956 RCV003229051

NM_004082.5(DCTN1):c.2761-5C>T

SNV
Germline

Chr2:74366023

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 1
Neuronopathy, distal hereditary motor, type 7B
Perry syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1721724

rs_749706596

2 SubmittersRCV001440364 RCV003160771

NM_004082.5(DCTN1):c.280-5C>T

SNV
Germline

Chr2:74377731

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 1
Neuronopathy, distal hereditary motor, type 7B
Perry syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1261398783

rs_1675307447

2 SubmittersRCV001477056 RCV003375315

NM_004082.5(DCTN1):c.3796C>A (p.Gln1266Lys)

SNV
Germline

Chr2:74361540

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 1
Perry syndrome
Neuronopathy, distal hereditary motor, type 7B
Condition: not provided
Amyotrophic lateral sclerosis

Criteria Provided
Conflicting Classifications

CA1721346

rs_538932463

3 SubmittersRCV001881760 RCV004693874 RCV005626533

NM_004082.5(DCTN1):c.2426A>T (p.Asp809Val)

SNV
Germline

Chr2:74366823

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 1
Perry syndrome
Neuronopathy, distal hereditary motor, type 7B
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1721848

rs_781268909

2 SubmittersRCV001882382 RCV005552484

NM_004082.5(DCTN1):c.3823C>T (p.Arg1275Cys)

SNV
Germline

Chr2:74361513

Likely pathogenic

Amyotrophic lateral sclerosis type 1
Perry syndrome
Neuronopathy, distal hereditary motor, type 7B

Criteria Provided
Single Submitter

CA1721339

rs_766653950

1 SubmittersRCV001973433

NM_004082.5(DCTN1):c.3529+3A>G

SNV
Germline

Chr2:74362991

Conflicting classifications of pathogenicity

Perry syndrome
Neuronopathy, distal hereditary motor, type 7B
Amyotrophic lateral sclerosis type 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1721471

rs_370727908

2 SubmittersRCV001928976 RCV002458819

NM_004082.5(DCTN1):c.613G>C (p.Gly205Arg)

SNV
Germline

Chr2:74371569

Conflicting classifications of pathogenicity

Perry syndrome
Amyotrophic lateral sclerosis type 1
Neuronopathy, distal hereditary motor, type 7B
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1722369

rs_770153273

2 SubmittersRCV001988163 RCV002352696

NM_004082.5(DCTN1):c.1082A>G (p.Lys361Arg)

SNV
Germline

Chr2:74370511

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 1
Perry syndrome
Neuronopathy, distal hereditary motor, type 7B
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA347363286

rs_1299296008

2 SubmittersRCV002040556 RCV003303635

NM_004082.5(DCTN1):c.73C>T (p.Arg25Trp)

SNV
Germline

Chr2:74378206

Conflicting classifications of pathogenicity

Perry syndrome
Amyotrophic lateral sclerosis type 1
Neuronopathy, distal hereditary motor, type 7B
Perry syndrome

Criteria Provided
Conflicting Classifications

CA1722607

rs_756611519

2 SubmittersRCV001995802 RCV002295358

NM_004082.5(DCTN1):c.175G>C (p.Gly59Arg)

SNV
Germline

Chr2:74378104

Pathogenic

Neuronopathy, distal hereditary motor, type 7B
Amyotrophic lateral sclerosis type 1
Perry syndrome
Perry syndrome

Criteria Provided
Single Submitter

CA347322341

rs_121909342

2 SubmittersRCV001972819 RCV003447327

NM_004082.5(DCTN1):c.1490G>A (p.Arg497His)

SNV
Germline

Chr2:74369394

Conflicting classifications of pathogenicity

Perry syndrome
Neuronopathy, distal hereditary motor, type 7B
Amyotrophic lateral sclerosis type 1
Inborn genetic diseases
DCTN1-related disorder

Criteria Provided
Conflicting Classifications

CA1722132

rs_369086889

3 SubmittersRCV001952438 RCV004975915 RCV004746518

NM_004082.5(DCTN1):c.432+1G>T

SNV
Germline

Chr2:74374322

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 1
Neuronopathy, distal hereditary motor, type 7B
Perry syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA347370064

rs_1235693710

2 SubmittersRCV001895182 RCV002276921

NM_004082.5(DCTN1):c.325C>A (p.Pro109Thr)

SNV
Germline

Chr2:74377681

Conflicting classifications of pathogenicity

Inborn genetic diseases
Amyotrophic lateral sclerosis type 1
Neuronopathy, distal hereditary motor, type 7B
Perry syndrome

Criteria Provided
Conflicting Classifications

CA1722553

rs_146896442

2 SubmittersRCV002324945 RCV003099343

NM_004082.5(DCTN1):c.359-6C>T

SNV
Germline

Chr2:74377472

Conflicting classifications of pathogenicity

Inborn genetic diseases
Amyotrophic lateral sclerosis type 1
Neuronopathy, distal hereditary motor, type 7B
Perry syndrome

Criteria Provided
Conflicting Classifications

CA50439611

rs_374167619

2 SubmittersRCV002339845 RCV003775676

NM_004082.5(DCTN1):c.2389T>C (p.Phe797Leu)

SNV
Germline

Chr2:74366860

Conflicting classifications of pathogenicity

Inborn genetic diseases
Amyotrophic lateral sclerosis type 1
Neuronopathy, distal hereditary motor, type 7B
Perry syndrome

Criteria Provided
Conflicting Classifications

CA1721857

rs_772608973

2 SubmittersRCV002459546 RCV003775221

NM_004082.5(DCTN1):c.2623G>A (p.Glu875Lys)

SNV
Germline

Chr2:74366464

Conflicting classifications of pathogenicity

Inborn genetic diseases
Amyotrophic lateral sclerosis type 1
Neuronopathy, distal hereditary motor, type 7B
Perry syndrome

Criteria Provided
Conflicting Classifications

CA1721795

rs_201063854

2 SubmittersRCV002437243 RCV003102042

NM_004082.5(DCTN1):c.3700-6C>A

SNV
Germline

Chr2:74361642

Conflicting classifications of pathogenicity

Neuronopathy, distal hereditary motor, type 7B
Amyotrophic lateral sclerosis type 1
Perry syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1721372

rs_371163273

2 SubmittersRCV003002240 RCV004999847

NM_004082.5(DCTN1):c.279+2T>C

SNV
Germline

Chr2:74377998

Pathogenic

Neuronopathy, distal hereditary motor, type 7B
Perry syndrome

Criteria Provided
Single Submitter

CA347321483

rs_1553466434

2 SubmittersRCV003223522 RCV003447338

NM_004082.5(DCTN1):c.279G>C (p.Gln93His)

SNV
Germline

Chr2:74378000

Likely pathogenic

Condition: not provided
Amyotrophic lateral sclerosis type 1
Perry syndrome
Neuronopathy, distal hereditary motor, type 7B

Criteria Provided
Multiple Submitters
No Conflicts

CA347321496

rs_1675325580

2 SubmittersRCV003321436 RCV003777323

NM_004082.5(DCTN1):c.3403T>C (p.Ser1135Pro)

SNV
Germline

Chr2:74363120

Conflicting classifications of pathogenicity

Inborn genetic diseases
Condition: not provided
Amyotrophic lateral sclerosis type 1
Neuronopathy, distal hereditary motor, type 7B
Perry syndrome

Criteria Provided
Conflicting Classifications

CA1721492

rs_763226083

3 SubmittersRCV004375449 RCV004790656 RCV005209664