Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_025137.4(SPG11):c.118C>T (p.Gln40Ter)	SNV Germline	Chr15:44663530	Pathogenic	Hereditary spastic paraplegia 11 Charcot-Marie-Tooth disease axonal type 2X Amyotrophic lateral sclerosis type 5	Criteria Provided Single Submitter	CA249693	rs_267607084	3 SubmittersRCV000001170 RCV000202382 RCV000193032
NM_025137.4(SPG11):c.5623C>T (p.Gln1875Ter)	SNV Germline	Chr15:44584057	Pathogenic	Hereditary spastic paraplegia 11 Condition: not provided Inborn genetic diseases Hereditary spastic paraplegia 11 Charcot-Marie-Tooth disease axonal type 2X Amyotrophic lateral sclerosis type 5	Criteria Provided Multiple Submitters No Conflicts	CA339870	rs_141848292	11 SubmittersRCV000001175 RCV000413953 RCV002345222 RCV002482813
NM_014043.4(CHMP2B):c.618A>C (p.Gln206His)	SNV Germline	Chr3:87253798	Pathogenic	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 Condition: not provided	No Assertion Criteria Provided	CA224980	rs_63751126	3 SubmittersRCV000020696 RCV000084279
NM_014043.4(CHMP2B):c.493C>T (p.Gln165Ter)	SNV Germline	Chr3:87253472	Pathogenic	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 Condition: not provided	No Assertion Criteria Provided	CA224975	rs_63750355	3 SubmittersRCV000001722 RCV000084276
NM_014845.6(FIG4):c.122T>C (p.Ile41Thr)	SNV Germline	Chr6:109715133	Pathogenic/Likely pathogenic	Charcot-Marie-Tooth disease type 4J Condition: not provided Charcot-Marie-Tooth disease type 4 Amyotrophic lateral sclerosis type 11 Amyotrophic lateral sclerosis Yunis-Varon syndrome Bilateral parasagittal parieto-occipital polymicrogyria Inborn genetic diseases Yunis-Varon syndrome Charcot-Marie-Tooth disease type 4J FIG4-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA233088	rs_121908287	32 SubmittersRCV000001791 RCV000143812 RCV000476702 RCV000416487 RCV001095515 RCV001270162 RCV001330564 RCV002362551 RCV001535566 RCV003952336
NM_014845.6(FIG4):c.547C>T (p.Arg183Ter)	SNV Germline	Chr6:109735199	Pathogenic/Likely pathogenic	Amyotrophic lateral sclerosis type 11 Charcot-Marie-Tooth disease type 4J Condition: not provided Charcot-Marie-Tooth disease type 4 Amyotrophic lateral sclerosis FIG4-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA251931	rs_121908288	6 SubmittersRCV000001796 RCV000001793 RCV000235305 RCV001046714 RCV001095516 RCV003944790
NM_014845.6(FIG4):c.157G>T (p.Asp53Tyr)	SNV Germline	Chr6:109715168	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 11 Amyotrophic lateral sclerosis	No Assertion Criteria Provided	CA251934	rs_121908290	2 SubmittersRCV000001798 RCV003447064
NM_015046.7(SETX):c.1166T>C (p.Leu389Ser)	SNV Germline	Chr9:132330432	Pathogenic	Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4 Condition: not provided Distal spinal muscular atrophy Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	Criteria Provided Multiple Submitters No Conflicts	CA252183	rs_29001584	7 SubmittersRCV000002379 RCV000644828 RCV000724322 RCV000789615 RCV003233065
NM_015046.7(SETX):c.8C>T (p.Thr3Ile)	SNV Germline	Chr9:132349421	Likely pathogenic	Amyotrophic lateral sclerosis type 4 Condition: not provided Distal spinal muscular atrophy	Criteria Provided Single Submitter	CA252185	rs_28941475	5 SubmittersRCV000002380 RCV000414273 RCV000789614
NM_015046.7(SETX):c.6407G>A (p.Arg2136His)	SNV Germline	Chr9:132283403	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 4 Distal spinal muscular atrophy	No Assertion Criteria Provided	CA252187	rs_121434378	3 SubmittersRCV000002381 RCV000789616
NM_015046.7(SETX):c.5929C>T (p.Leu1977Phe)	SNV Germline	Chr9:132296907	Conflicting classifications of pathogenicity	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Condition: not provided Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4	Criteria Provided Conflicting Classifications	CA252191	rs_121434380	5 SubmittersRCV000002385 RCV001288413 RCV003764517
NM_004738.5(VAPB):c.166C>T (p.Pro56Ser)	SNV Germline	Chr20:58418318	Pathogenic	Amyotrophic lateral sclerosis type 8 Condition: not provided Adult-onset proximal spinal muscular atrophy, autosomal dominant Adult-onset proximal spinal muscular atrophy, autosomal dominant Amyotrophic lateral sclerosis type 8	Criteria Provided Multiple Submitters No Conflicts	CA117096	rs_74315431	7 SubmittersRCV000005073 RCV000059635 RCV002254541 RCV002254542
NM_017672.6(TRPM7):c.4445C>T (p.Thr1482Ile)	SNV Germline	Chr15:50586433	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1, susceptibility to Juvenile amyotrophic lateral sclerosis Condition: not provided TRPM7-related disorder	Criteria Provided Conflicting Classifications	CA117098	rs_8042919	4 SubmittersRCV000005076 RCV001095429 RCV001723538 RCV003964793
NM_007375.4(TARDBP):c.1009A>G (p.Met337Val)	SNV Germline	Chr1:11022418	Pathogenic	Amyotrophic lateral sclerosis type 10 TARDBP-related frontotemporal dementia Amyotrophic lateral sclerosis type 10 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA340373	rs_80356730	6 SubmittersRCV000005539 RCV000693006 RCV001090806
NM_007375.4(TARDBP):c.991C>A (p.Gln331Lys)	SNV Germline	Chr1:11022400	Pathogenic	Amyotrophic lateral sclerosis type 10	No Assertion Criteria Provided	CA253443	rs_80356727	1 SubmittersRCV000005540
NM_007375.4(TARDBP):c.892G>A (p.Gly298Ser)	SNV Germline	Chr1:11022301	Pathogenic	Amyotrophic lateral sclerosis type 10 Condition: not provided TARDBP-related frontotemporal dementia Amyotrophic lateral sclerosis type 10	Criteria Provided Multiple Submitters No Conflicts	CA340375	rs_4884357	5 SubmittersRCV000005543 RCV000713825 RCV001851670
NM_007375.4(TARDBP):c.506A>G (p.Asp169Gly)	SNV Germline	Chr1:11018836	Pathogenic	Amyotrophic lateral sclerosis type 10	No Assertion Criteria Provided	CA340377	rs_80356717	2 SubmittersRCV000005544
NM_007375.4(TARDBP):c.1042G>T (p.Gly348Cys)	SNV Germline	Chr1:11022451	Pathogenic/Likely pathogenic	Amyotrophic lateral sclerosis type 10 Condition: not provided TARDBP-related frontotemporal dementia Amyotrophic lateral sclerosis type 10	Criteria Provided Multiple Submitters No Conflicts	CA340379	rs_80356733	6 SubmittersRCV000005545 RCV000516886 RCV001851671
NM_007375.4(TARDBP):c.1028A>G (p.Gln343Arg)	SNV Germline	Chr1:11022437	Pathogenic	Amyotrophic lateral sclerosis type 10	No Assertion Criteria Provided	CA253449	rs_80356731	1 SubmittersRCV000005546
NM_007375.4(TARDBP):c.943G>A (p.Ala315Thr)	SNV Germline	Chr1:11022352	Pathogenic	Amyotrophic lateral sclerosis type 10 TARDBP-related frontotemporal dementia Amyotrophic lateral sclerosis type 10 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA340381	rs_80356726	5 SubmittersRCV000005547 RCV001384596 RCV004546411
NM_001378743.1(CYLD):c.2806C>T (p.Arg936Ter)	SNV Germline	Chr16:50796443	Pathogenic	Brooke-Spiegler syndrome Familial multiple trichoepitheliomata Familial cylindromatosis Trichoepithelioma, multiple familial, 1 Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 Familial cylindromatosis Brooke-Spiegler syndrome	Criteria Provided Multiple Submitters No Conflicts	CA214928	rs_121908390	3 SubmittersRCV000005575 RCV000005574 RCV000005573 RCV002496269
NM_001008212.2(OPTN):c.1634G>A (p.Arg545Gln)	SNV Germline	Chr10:13136766	Conflicting classifications of pathogenicity	Glaucoma 1, open angle, E Primary open angle glaucoma Amyotrophic lateral sclerosis type 12 Primary open angle glaucoma Glaucoma 1, open angle, E Amyotrophic lateral sclerosis type 12 not specified Condition: not provided OPTN-related disorder	Criteria Provided Conflicting Classifications	CA118630	rs_75654767	9 SubmittersRCV000007515 RCV000356568 RCV000301689 RCV000559186 RCV001289042 RCV001610287 RCV004532306
NM_001008212.2(OPTN):c.1192C>T (p.Gln398Ter)	SNV Germline	Chr10:13125989	Pathogenic	Amyotrophic lateral sclerosis type 12	No Assertion Criteria Provided	CA254103	rs_267606928	1 SubmittersRCV000007519
NM_001008212.2(OPTN):c.1433A>G (p.Glu478Gly)	SNV Germline	Chr10:13132098	Pathogenic	Amyotrophic lateral sclerosis type 12	Criteria Provided Single Submitter	CA254105	rs_267606929	2 SubmittersRCV000007520
NM_003900.5(SQSTM1):c.1175C>T (p.Pro392Leu)	SNV Germline	Chr5:179836445	Conflicting classifications of pathogenicity	Paget disease of bone 3 Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 Paget disease of bone 3 Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 Condition: not provided Spastic paraplegia-Paget disease of bone syndrome Amyotrophic lateral sclerosis Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 Paget disease of bone 2, early-onset	Criteria Provided Conflicting Classifications	CA203866	rs_104893941	14 SubmittersRCV000008576 RCV000184063 RCV000477939 RCV000490214 RCV000824803 RCV002508916 RCV001084507
NM_003900.5(SQSTM1):c.1165+1G>A	SNV Germline	Chr5:179833783	Pathogenic	Paget disease of bone 3 Paget disease of bone 2, early-onset Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 Myopathy, distal, with rimmed vacuoles	Criteria Provided Single Submitter	CA340743	rs_796051870	2 SubmittersRCV000008578 RCV000652541 RCV001799592
NM_004082.5(DCTN1):c.175G>A (p.Gly59Ser)	SNV Germline	Chr2:74378104	Pathogenic	Neuronopathy, distal hereditary motor, type 7B Neuronopathy, distal hereditary motor, type 7B Perry syndrome Amyotrophic lateral sclerosis type 1 Hereditary motor neuron disease Perry syndrome	Criteria Provided Single Submitter	CA340781	rs_121909342	4 SubmittersRCV000008909 RCV000644484 RCV000789086 RCV003447080
NM_004082.5(DCTN1):c.2353C>T (p.Arg785Trp)	SNV Germline	Chr2:74366896	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis, susceptibility to Charcot-Marie-Tooth disease Amyotrophic lateral sclerosis type 1 Neuronopathy, distal hereditary motor, type 7B Perry syndrome Amyotrophic lateral sclerosis type 1 Neuronopathy, distal hereditary motor, type 7B Perry syndrome Condition: not provided Inborn genetic diseases DCTN1-related disorder	Criteria Provided Conflicting Classifications	CA119587	rs_121909344	12 SubmittersRCV000008912 RCV000144867 RCV000644476 RCV000986781 RCV001140673 RCV001140674 RCV001572734 RCV002444424 RCV003952351
NM_007126.5(VCP):c.464G>A (p.Arg155His)	SNV Germline	Chr9:35065363	Pathogenic	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 Condition: not provided Inclusion body myopathy with Paget disease of bone and frontotemporal dementia Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA128983	rs_121909329	11 SubmittersRCV000008989 RCV000523065 RCV000540496 RCV001271089 RCV002336080
NM_007126.5(VCP):c.463C>T (p.Arg155Cys)	SNV Germline	Chr9:35065364	Pathogenic/Likely pathogenic	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 Condition: not provided Inclusion body myopathy with Paget disease of bone and frontotemporal dementia Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 Frontotemporal dementia and/or amyotrophic lateral sclerosis 6	Criteria Provided Multiple Submitters No Conflicts	CA254398	rs_121909330	7 SubmittersRCV000008990 RCV000372207 RCV000685660 RCV001095424
NM_007126.5(VCP):c.464G>C (p.Arg155Pro)	SNV Germline	Chr9:35065363	Conflicting classifications of pathogenicity	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 Condition: not provided	Criteria Provided Conflicting Classifications	CA254404	rs_121909329	3 SubmittersRCV000008993 RCV001387337 RCV003137504
NM_007126.5(VCP):c.572G>A (p.Arg191Gln)	SNV Germline	Chr9:35065255	Pathogenic/Likely pathogenic	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 Condition: not provided Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 Charcot-Marie-Tooth disease type 2Y	Criteria Provided Multiple Submitters No Conflicts	CA254406	rs_121909334	11 SubmittersRCV000008994 RCV000023064 RCV000555373 RCV000516636 RCV002496309
NM_007126.5(VCP):c.476G>A (p.Arg159His)	SNV Germline	Chr9:35065351	Pathogenic	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 Condition: not provided Inclusion body myopathy with Paget disease of bone and frontotemporal dementia Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 VCP-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA254408	rs_121909335	11 SubmittersRCV000008995 RCV000276565 RCV000639653 RCV003335021 RCV004532314
NM_006262.4(PRPH):c.421G>T (p.Asp141Tyr)	SNV Germline	Chr12:49295621	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis, susceptibility to Condition: not provided not specified PRPH-related disorder	Criteria Provided Conflicting Classifications	CA123381	rs_58599399	7 SubmittersRCV000014706 RCV000057167 RCV000523206 RCV003964802
NM_018834.6(MATR3):c.254C>G (p.Ser85Cys)	SNV Germline	Chr5:139307669	Pathogenic	Amyotrophic lateral sclerosis type 21 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA123688	rs_121434591	7 SubmittersRCV000015039 RCV000517083
NM_000454.5(SOD1):c.112G>A (p.Gly38Arg)	SNV Germline	Chr21:31663829	Pathogenic	Amyotrophic lateral sclerosis type 1 Motor neuron disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA257311	rs_121912431	4 SubmittersRCV000015874 RCV000492487 RCV003480031
NM_000454.5(SOD1):c.115C>G (p.Leu39Val)	SNV Germline	Chr21:31663832	Pathogenic/Likely pathogenic	Amyotrophic lateral sclerosis type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA257313	rs_121912432	4 SubmittersRCV000015875 RCV000997816
NM_000454.5(SOD1):c.124G>A (p.Gly42Ser)	SNV Germline	Chr21:31663841	Pathogenic	Amyotrophic lateral sclerosis type 1 Spastic tetraplegia and axial hypotonia, progressive Amyotrophic lateral sclerosis type 1	Criteria Provided Multiple Submitters No Conflicts	CA257315	rs_121912433	3 SubmittersRCV000015876 RCV002496378
NM_000454.5(SOD1):c.125G>A (p.Gly42Asp)	SNV Germline	Chr21:31663842	Pathogenic	Amyotrophic lateral sclerosis type 1	Criteria Provided Multiple Submitters No Conflicts	CA257317	rs_121912434	3 SubmittersRCV000015877
NM_000454.5(SOD1):c.131A>G (p.His44Arg)	SNV Germline	Chr21:31663848	Pathogenic	Amyotrophic lateral sclerosis type 1 Condition: not provided Amyotrophic lateral sclerosis type 10 SOD1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA257319	rs_121912435	7 SubmittersRCV000015878 RCV000713397 RCV002463588 RCV003398522
NM_000454.5(SOD1):c.319C>G (p.Leu107Val)	SNV Germline	Chr21:31667337	Pathogenic	Amyotrophic lateral sclerosis type 1 SOD1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA257321	rs_121912440	3 SubmittersRCV000015879 RCV003390685
NM_000454.5(SOD1):c.256G>C (p.Gly86Arg)	SNV Germline	Chr21:31667274	Pathogenic	Amyotrophic lateral sclerosis type 1	Criteria Provided Single Submitter	CA257323	rs_121912436	2 SubmittersRCV000015880
NM_000454.5(SOD1):c.280G>T (p.Gly94Cys)	SNV Germline	Chr21:31667298	Pathogenic	Amyotrophic lateral sclerosis type 1	Criteria Provided Single Submitter	CA257325	rs_121912437	2 SubmittersRCV000015881
NM_000454.5(SOD1):c.281G>C (p.Gly94Ala)	SNV Germline	Chr21:31667299	Pathogenic	Amyotrophic lateral sclerosis type 1	Criteria Provided Single Submitter	CA257327	rs_121912438	2 SubmittersRCV000015882
NM_000454.5(SOD1):c.302A>G (p.Glu101Gly)	SNV Germline	Chr21:31667320	Pathogenic	Amyotrophic lateral sclerosis type 1 Motor neuron disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA257329	rs_121912439	4 SubmittersRCV000015883 RCV000492233 RCV001555083
NM_000454.5(SOD1):c.338T>C (p.Ile113Thr)	SNV Germline	Chr21:31667356	Pathogenic	Amyotrophic lateral sclerosis type 1	Criteria Provided Single Submitter	CA257331	rs_74315452	2 SubmittersRCV000015884
NM_000454.5(SOD1):c.14C>T (p.Ala5Val)	SNV Germline	Chr21:31659783	Pathogenic	Amyotrophic lateral sclerosis type 1 Condition: not provided SOD1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA257333	rs_121912442	10 SubmittersRCV000015885 RCV000518025 RCV003390686
NM_000454.5(SOD1):c.140A>G (p.His47Arg)	SNV Germline	Chr21:31663857	Pathogenic	Condition: not provided Amyotrophic lateral sclerosis Amyotrophic lateral sclerosis type 1	Criteria Provided Multiple Submitters No Conflicts	CA257335	rs_121912443	6 SubmittersRCV000281824 RCV001843454 RCV000015886
NM_000454.5(SOD1):c.13G>A (p.Ala5Thr)	SNV Germline	Chr21:31659782	Pathogenic	Condition: not provided Amyotrophic lateral sclerosis type 1	Criteria Provided Multiple Submitters No Conflicts	CA257337	rs_121912444	4 SubmittersRCV000518527 RCV000015887
NM_000454.5(SOD1):c.272A>C (p.Asp91Ala)	SNV Germline	Chr21:31667290	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 1 Amyotrophic lateral sclerosis 1, autosomal recessive Condition: not provided Amyotrophic lateral sclerosis SOD1-related disorder	Criteria Provided Conflicting Classifications	CA124296	rs_80265967	17 SubmittersRCV000015888 RCV000015889 RCV000713399 RCV001843455 RCV003415711
NM_000454.5(SOD1):c.313A>T (p.Ile105Phe)	SNV Germline	Chr21:31667331	Likely pathogenic	Amyotrophic lateral sclerosis 1, autosomal recessive Abnormal central motor function	Criteria Provided Single Submitter	CA124298	rs_121912445	2 SubmittersRCV000015890 RCV001813991
NM_000454.5(SOD1):c.434T>C (p.Leu145Ser)	SNV Germline	Chr21:31668547	Pathogenic	Condition: not provided Abnormal central motor function Amyotrophic lateral sclerosis type 1	Criteria Provided Multiple Submitters No Conflicts	CA257339	rs_121912446	5 SubmittersRCV000516860 RCV001813992 RCV000015891
NM_000454.5(SOD1):c.436G>A (p.Ala146Thr)	SNV Germline	Chr21:31668549	Likely pathogenic	Amyotrophic lateral sclerosis type 1	Criteria Provided Single Submitter	CA257341	rs_121912447	2 SubmittersRCV000015892
NM_000454.5(SOD1):c.358-10T>G	SNV Germline	Chr21:31668461	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 1 Condition: not provided	Criteria Provided Conflicting Classifications		rs_1197141604	3 SubmittersRCV000015893 RCV001753418
NM_000454.5(SOD1):c.20G>T (p.Cys7Phe)	SNV Germline	Chr21:31659789	Pathogenic	Amyotrophic lateral sclerosis type 1	No Assertion Criteria Provided	CA257343	rs_121912448	1 SubmittersRCV000015894
NM_000454.5(SOD1):c.455T>C (p.Ile152Thr)	SNV Germline	Chr21:31668568	Pathogenic	Amyotrophic lateral sclerosis type 1	No Assertion Criteria Provided	CA257345	rs_121912449	1 SubmittersRCV000015895
NM_000454.5(SOD1):c.64G>A (p.Glu22Lys)	SNV Germline	Chr21:31659833	Pathogenic	Amyotrophic lateral sclerosis type 1	No Assertion Criteria Provided	CA257347	rs_121912450	1 SubmittersRCV000015896
NM_000454.5(SOD1):c.404G>A (p.Ser135Asn)	SNV Germline	Chr21:31668517	Pathogenic	Amyotrophic lateral sclerosis type 1	No Assertion Criteria Provided	CA257349	rs_121912451	1 SubmittersRCV000015897
NM_000454.5(SOD1):c.253T>G (p.Leu85Val)	SNV Germline	Chr21:31667271	Pathogenic	Amyotrophic lateral sclerosis type 1	No Assertion Criteria Provided	CA257351	rs_121912452	1 SubmittersRCV000015898
NM_000454.5(SOD1):c.49G>A (p.Gly17Ser)	SNV Germline	Chr21:31659818	Pathogenic	Amyotrophic lateral sclerosis type 1	No Assertion Criteria Provided	CA257353	rs_121912453	1 SubmittersRCV000015899
NM_000454.5(SOD1):c.380T>A (p.Leu127Ter)	SNV Germline	Chr21:31668493	Pathogenic	Amyotrophic lateral sclerosis type 1	No Assertion Criteria Provided	CA257355	rs_121912454	1 SubmittersRCV000015900
NM_000454.5(SOD1):c.358-11A>G	SNV Germline	Chr21:31668460	Pathogenic	Amyotrophic lateral sclerosis type 1	No Assertion Criteria Provided		rs_369600566	1 SubmittersRCV000015901
NM_000454.5(SOD1):c.217G>A (p.Gly73Ser)	SNV Germline	Chr21:31666496	Likely pathogenic	Amyotrophic lateral sclerosis type 1	Criteria Provided Single Submitter	CA257358	rs_121912455	2 SubmittersRCV000015902
NM_000454.5(SOD1):c.37G>C (p.Gly13Arg)	SNV Germline	Chr21:31659806	Likely pathogenic	Amyotrophic lateral sclerosis type 1	Criteria Provided Single Submitter	CA257360	rs_121912456	2 SubmittersRCV000015903
NM_000454.5(SOD1):c.137T>G (p.Phe46Cys)	SNV Germline	Chr21:31663854	Pathogenic	Amyotrophic lateral sclerosis type 1	No Assertion Criteria Provided	CA257362	rs_121912457	1 SubmittersRCV000015904
NM_000454.5(SOD1):c.242A>G (p.His81Arg)	SNV Germline	Chr21:31667260	Pathogenic	Amyotrophic lateral sclerosis type 1	Criteria Provided Single Submitter	CA257364	rs_121912458	2 SubmittersRCV000015905
NM_000454.5(SOD1):c.280G>C (p.Gly94Arg)	SNV Germline	Chr21:31667298	Pathogenic/Likely pathogenic	Amyotrophic lateral sclerosis type 1 Motor neuron disease	Criteria Provided Multiple Submitters No Conflicts	CA257367	rs_121912437	3 SubmittersRCV000015907 RCV000492720
NM_000454.5(SOD1):c.358-304=	SNV Germline	Chr21:31668167	Pathogenic	Amyotrophic lateral sclerosis type 1	No Assertion Criteria Provided		rs_1555836889	1 SubmittersRCV000015909
NM_004960.4(FUS):c.1551C>G (p.His517Gln)	SNV Germline	Chr16:31191408	Pathogenic	Amyotrophic lateral sclerosis 6, autosomal recessive	No Assertion Criteria Provided	CA126283	rs_121909667	1 SubmittersRCV000017608
NM_004960.4(FUS):c.1561C>G (p.Arg521Gly)	SNV Germline	Chr16:31191418	Pathogenic	Amyotrophic lateral sclerosis type 6 Tremor, hereditary essential, 4 Amyotrophic lateral sclerosis type 6 FUS-related disorder Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA257437	rs_121909668	5 SubmittersRCV000017609 RCV000703284 RCV003421921 RCV002472932
NM_004960.4(FUS):c.1553G>A (p.Arg518Lys)	SNV Germline	Chr16:31191410	Pathogenic	Amyotrophic lateral sclerosis type 6	No Assertion Criteria Provided	CA257439	rs_121909669	1 SubmittersRCV000017610
NM_004960.4(FUS):c.1561C>T (p.Arg521Cys)	SNV Germline	Chr16:31191418	Pathogenic	Amyotrophic lateral sclerosis type 6 Condition: not provided Tremor, hereditary essential, 4 Amyotrophic lateral sclerosis type 6	Criteria Provided Multiple Submitters No Conflicts	CA257441	rs_121909668	6 SubmittersRCV000017611 RCV001701569 RCV001851894
NM_004960.4(FUS):c.1562G>A (p.Arg521His)	SNV Germline	Chr16:31191419	Pathogenic	Amyotrophic lateral sclerosis type 6 Tremor, hereditary essential, 4 Amyotrophic lateral sclerosis type 6 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA257443	rs_121909671	4 SubmittersRCV000017612 RCV001851895 RCV003886363
NM_004960.4(FUS):c.646C>T (p.Arg216Cys)	SNV Germline	Chr16:31185061	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 6 Tremor, hereditary essential, 4 Condition: not provided not specified Tremor, hereditary essential, 4 Amyotrophic lateral sclerosis type 6	Criteria Provided Conflicting Classifications	CA130062	rs_267606832	4 SubmittersRCV000017614 RCV000030719 RCV001588814 RCV002247351 RCV002513082
NM_001097577.3(ANG):c.107A>T (p.Gln36Leu)	SNV Germline	Chr14:20693671	Pathogenic	Amyotrophic lateral sclerosis type 9	No Assertion Criteria Provided	CA258088	rs_121909535	1 SubmittersRCV000019699
NM_001097577.3(ANG):c.122A>T (p.Lys41Ile)	SNV Germline	Chr14:20693686	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 9 Condition: not provided not specified ANG-related disorder	Criteria Provided Conflicting Classifications	CA258091	rs_121909536	8 SubmittersRCV000019700 RCV000517735 RCV001642231 RCV003934843
NM_001097577.3(ANG):c.121A>G (p.Lys41Glu)	SNV Germline	Chr14:20693685	Pathogenic	Amyotrophic lateral sclerosis type 9	No Assertion Criteria Provided	CA258094	rs_121909537	1 SubmittersRCV000019701
NM_001097577.3(ANG):c.164G>A (p.Arg55Lys)	SNV Germline	Chr14:20693728	Pathogenic	Amyotrophic lateral sclerosis type 9	No Assertion Criteria Provided	CA258097	rs_121909538	1 SubmittersRCV000019702
NM_001097577.3(ANG):c.189C>G (p.Cys63Trp)	SNV Germline	Chr14:20693753	Pathogenic	Amyotrophic lateral sclerosis type 9	No Assertion Criteria Provided	CA258100	rs_121909539	1 SubmittersRCV000019703
NM_001097577.3(ANG):c.191A>T (p.Lys64Ile)	SNV Germline	Chr14:20693755	Pathogenic	Amyotrophic lateral sclerosis type 9	No Assertion Criteria Provided	CA258103	rs_121909540	1 SubmittersRCV000019704
NM_001097577.3(ANG):c.208A>G (p.Ile70Val)	SNV Germline	Chr14:20693772	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 9 Condition: not provided not specified ANG-related disorder	Criteria Provided Conflicting Classifications	CA258106	rs_121909541	10 SubmittersRCV000019705 RCV000335176 RCV001659725 RCV003974847
NM_001097577.3(ANG):c.155G>A (p.Ser52Asn)	SNV Germline	Chr14:20693719	Likely pathogenic	Amyotrophic lateral sclerosis type 9	Criteria Provided Single Submitter	CA258109	rs_121909542	2 SubmittersRCV000019706
NM_001097577.3(ANG):c.409G>A (p.Val137Ile)	SNV Germline	Chr14:20693973	Pathogenic	Amyotrophic lateral sclerosis type 9	No Assertion Criteria Provided	CA258115	rs_121909544	1 SubmittersRCV000019708
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_007375.4(TARDBP):c.1035C>A (p.Asn345Lys)	SNV Germline	Chr1:11022444	Pathogenic	TARDBP-related frontotemporal dementia Amyotrophic lateral sclerosis type 10	Criteria Provided Single Submitter		rs_80356732	1 SubmittersRCV000703167
NM_007375.4(TARDBP):c.1055A>G (p.Asn352Ser)	SNV Germline	Chr1:11022464	Pathogenic/Likely pathogenic	Amyotrophic lateral sclerosis type 10 Condition: not provided TARDBP-related frontotemporal dementia Amyotrophic lateral sclerosis type 10	Criteria Provided Multiple Submitters No Conflicts	CA17876354	rs_80356734	8 SubmittersRCV000020657 RCV000993301 RCV001851975
NM_007375.4(TARDBP):c.1144G>A (p.Ala382Thr)	SNV Germline	Chr1:11022553	Pathogenic/Likely pathogenic	Amyotrophic lateral sclerosis type 10 FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, TARDBP-RELATED Condition: not provided TARDBP-related frontotemporal dementia Amyotrophic lateral sclerosis type 10 TARDBP-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA150788	rs_367543041	7 SubmittersRCV000020663 RCV000106321 RCV000413910 RCV002513146 RCV003944833
NM_007375.4(TARDBP):c.1147A>G (p.Ile383Val)	SNV Germline	Chr1:11022556	Pathogenic/Likely pathogenic	Condition: not provided Amyotrophic lateral sclerosis type 10 TARDBP-related frontotemporal dementia Amyotrophic lateral sclerosis type 10 See cases	Criteria Provided Multiple Submitters No Conflicts		rs_80356740	11 SubmittersRCV001579671 RCV000995885 RCV001851976 RCV002251918
NM_007375.4(TARDBP):c.1168A>G (p.Asn390Asp)	SNV Germline	Chr1:11022577	Conflicting classifications of pathogenicity	Condition: not provided TARDBP-related frontotemporal dementia Amyotrophic lateral sclerosis type 10 TARDBP-related disorder	Criteria Provided Conflicting Classifications		rs_80356741	3 SubmittersRCV001570554 RCV003764614 RCV003407351
NM_007375.4(TARDBP):c.1169A>G (p.Asn390Ser)	SNV Germline	Chr1:11022578	Conflicting classifications of pathogenicity	Condition: not provided TARDBP-related frontotemporal dementia Amyotrophic lateral sclerosis type 10 Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_80356742	3 SubmittersRCV001732914 RCV001861034 RCV002329720
NM_007375.4(TARDBP):c.269C>T (p.Ala90Val)	SNV Germline	Chr1:11016874	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 10 TARDBP-related frontotemporal dementia Amyotrophic lateral sclerosis type 10 Condition: not provided Inborn genetic diseases TARDBP-related disorder	Criteria Provided Conflicting Classifications	CA586343	rs_80356715	8 SubmittersRCV000020670 RCV000821536 RCV001311624 RCV002426513 RCV003924849
NM_007375.4(TARDBP):c.800A>G (p.Asn267Ser)	SNV Germline	Chr1:11022209	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 10 TARDBP-related frontotemporal dementia Amyotrophic lateral sclerosis type 10 Frontotemporal lobar degeneration, TARDBP-related TARDBP-related disorder Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA586454	rs_80356718	7 SubmittersRCV000020671 RCV001851977 RCV002051795 RCV003904854 RCV003242964 RCV004546414
NM_007375.4(TARDBP):c.859G>A (p.Gly287Ser)	SNV Germline	Chr1:11022268	Pathogenic/Likely pathogenic	Amyotrophic lateral sclerosis type 10 Condition: not provided Motor neuron disease TARDBP-related frontotemporal dementia Amyotrophic lateral sclerosis type 10	Criteria Provided Multiple Submitters No Conflicts	CA586459	rs_80356719	6 SubmittersRCV000020672 RCV000412864 RCV000492328 RCV000529539
NM_007375.4(TARDBP):c.881G>T (p.Gly294Val)	SNV Germline	Chr1:11022290	Pathogenic	TARDBP-related frontotemporal dementia Amyotrophic lateral sclerosis type 10 Condition: not provided Amyotrophic lateral sclerosis type 10	Criteria Provided Multiple Submitters No Conflicts	CA342121	rs_80356721	4 SubmittersRCV001390939 RCV002472934 RCV000020673
NM_007375.4(TARDBP):c.883G>A (p.Gly295Ser)	SNV Germline	Chr1:11022292	Pathogenic	Amyotrophic lateral sclerosis type 10 TARDBP-related frontotemporal dementia Amyotrophic lateral sclerosis type 10	Criteria Provided Single Submitter	CA342123	rs_80356723	3 SubmittersRCV000020674 RCV003764615
NM_007375.4(TARDBP):c.883G>C (p.Gly295Arg)	SNV Germline	Chr1:11022292	Conflicting classifications of pathogenicity	Condition: not provided TARDBP-related frontotemporal dementia Amyotrophic lateral sclerosis type 10	Criteria Provided Conflicting Classifications		rs_80356723	2 SubmittersRCV002474373 RCV002569399
NM_007375.4(TARDBP):c.931A>G (p.Met311Val)	SNV Germline	Chr1:11022340	Likely pathogenic	TARDBP-related frontotemporal dementia Amyotrophic lateral sclerosis type 10 Amyotrophic lateral sclerosis type 10 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_80356725	3 SubmittersRCV000694078 RCV003334377 RCV003311663
NM_004960.4(FUS):c.1483C>T (p.Arg495Ter)	SNV Germline	Chr16:31191052	Pathogenic	Amyotrophic lateral sclerosis type 6 Condition: not provided Amyotrophic lateral sclerosis type 6 Tremor, hereditary essential, 4	Criteria Provided Multiple Submitters No Conflicts	CA259631	rs_387906627	4 SubmittersRCV000022556 RCV002247377 RCV003764624
NM_004960.4(FUS):c.616G>A (p.Gly206Ser)	SNV Germline	Chr16:31185031	Pathogenic	Amyotrophic lateral sclerosis type 6	No Assertion Criteria Provided	CA259634	rs_387906628	1 SubmittersRCV000022557
NM_013444.4(UBQLN2):c.1490C>A (p.Pro497His)	SNV Germline	ChrX:56565363	Pathogenic	Amyotrophic lateral sclerosis type 15	Criteria Provided Single Submitter	CA259703	rs_387906709	2 SubmittersRCV000022842
NM_013444.4(UBQLN2):c.1489C>T (p.Pro497Ser)	SNV Germline	ChrX:56565362	Pathogenic	Amyotrophic lateral sclerosis type 15	Criteria Provided Single Submitter	CA259705	rs_387906710	2 SubmittersRCV000022843
NM_013444.4(UBQLN2):c.1516C>A (p.Pro506Thr)	SNV Germline	ChrX:56565389	Pathogenic	Amyotrophic lateral sclerosis type 15	No Assertion Criteria Provided	CA259707	rs_387906711	1 SubmittersRCV000022844
NM_013444.4(UBQLN2):c.1573C>T (p.Pro525Ser)	SNV Germline	ChrX:56565446	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 15 Amyotrophic lateral sclerosis Condition: not provided UBQLN2-related disorder	Criteria Provided Conflicting Classifications	CA259711	rs_369947678	8 SubmittersRCV000022846 RCV000625776 RCV003441723 RCV003944836
NM_007126.5(VCP):c.475C>G (p.Arg159Gly)	SNV Germline	Chr9:35065352	Pathogenic	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6	No Assertion Criteria Provided	CA259748	rs_387906789	1 SubmittersRCV000023065
NM_007126.5(VCP):c.1774G>A (p.Asp592Asn)	SNV Germline	Chr9:35059723	Pathogenic	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6	No Assertion Criteria Provided	CA128985	rs_387906790	1 SubmittersRCV000023066
NM_005866.4(SIGMAR1):c.304G>C (p.Glu102Gln)	SNV Germline	Chr9:34637268	Pathogenic	Amyotrophic lateral sclerosis type 16 Autosomal recessive distal spinal muscular atrophy 2 Amyotrophic lateral sclerosis type 16 Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA259767	rs_387906829	3 SubmittersRCV000023162 RCV001852015 RCV002444439
NM_004738.5(VAPB):c.137C>T (p.Thr46Ile)	SNV Germline	Chr20:58418289	Pathogenic	Amyotrophic lateral sclerosis type 8 Condition: not provided	No Assertion Criteria Provided	CA219846	rs_281875284	2 SubmittersRCV000023467 RCV000059634
NM_014043.4(CHMP2B):c.311C>A (p.Thr104Asn)	SNV Germline	Chr3:87245898	Pathogenic	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	No Assertion Criteria Provided	CA260074	rs_281864934	2 SubmittersRCV000055937
NM_005022.4(PFN1):c.211T>G (p.Cys71Gly)	SNV Germline	Chr17:4946742	Pathogenic	Amyotrophic lateral sclerosis type 18	No Assertion Criteria Provided	CA260575	rs_387907264	1 SubmittersRCV000030694
NM_005022.4(PFN1):c.341T>C (p.Met114Thr)	SNV Germline	Chr17:4945982	Pathogenic	Amyotrophic lateral sclerosis type 18 Condition: not provided	Criteria Provided Single Submitter	CA260576	rs_387907265	2 SubmittersRCV000030695 RCV001852610
NM_005022.4(PFN1):c.353G>T (p.Gly118Val)	SNV Germline	Chr17:4945970	Pathogenic	Amyotrophic lateral sclerosis type 18	No Assertion Criteria Provided	CA260577	rs_387907266	1 SubmittersRCV000030696
NM_004960.4(FUS):c.1292C>T (p.Pro431Leu)	SNV Germline	Chr16:31190398	Conflicting classifications of pathogenicity	Tremor, hereditary essential, 4 Tremor, hereditary essential, 4 Amyotrophic lateral sclerosis type 6 Condition: not provided Frontotemporal dementia Amyotrophic lateral sclerosis Inborn genetic diseases FUS-related disorder	Criteria Provided Conflicting Classifications	CA130060	rs_186547381	8 SubmittersRCV000030718 RCV000765290 RCV000711709 RCV001847624 RCV003993752 RCV002381274 RCV003407373
NM_006070.6(TFG):c.854C>T (p.Pro285Leu)	SNV Germline	Chr3:100748182	Pathogenic/Likely pathogenic	Hereditary motor and sensory neuropathy, Okinawa type Condition: not provided Hereditary spastic paraplegia 57 Hereditary motor and sensory neuropathy, Okinawa type Amyotrophic Lateral Sclerosis with Sensory Neuropathy See cases	Criteria Provided Multiple Submitters No Conflicts	CA130077	rs_207482230	7 SubmittersRCV000030736 RCV000218755 RCV000642397 RCV001095428 RCV002251934
NM_025137.4(SPG11):c.2198T>G (p.Leu733Ter)	SNV Germline	Chr15:44626377	Pathogenic	Hereditary spastic paraplegia 11 Amyotrophic lateral sclerosis type 5	No Assertion Criteria Provided	CA277006	rs_312262739	2 SubmittersRCV000034188 RCV000192703
NM_025137.4(SPG11):c.267G>A (p.Trp89Ter)	SNV Germline	Chr15:44660607	Pathogenic	Hereditary spastic paraplegia 11 Amyotrophic lateral sclerosis type 5 Condition: not provided Charcot-Marie-Tooth disease axonal type 2X	Criteria Provided Multiple Submitters No Conflicts	CA277361	rs_312262709	8 SubmittersRCV000034195 RCV000194703 RCV001569808 RCV003883485
NM_025137.4(SPG11):c.2834+1G>T	SNV Germline	Chr15:44620189	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 11 Condition: not provided Amyotrophic lateral sclerosis type 5	Criteria Provided Multiple Submitters No Conflicts	CA344329	rs_312262749	7 SubmittersRCV000034200 RCV001836722 RCV003458191
NM_025137.4(SPG11):c.5974C>T (p.Arg1992Ter)	SNV Germline	Chr15:44574934	Pathogenic	Hereditary spastic paraplegia 11 Amyotrophic lateral sclerosis type 5 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA277266	rs_200793464	4 SubmittersRCV000034234 RCV000194146 RCV000255514
NM_025137.4(SPG11):c.6091C>T (p.Arg2031Ter)	SNV Germline	Chr15:44573661	Pathogenic	Hereditary spastic paraplegia 11 Amyotrophic lateral sclerosis type 5 Condition: not provided Hereditary spastic paraplegia	Criteria Provided Multiple Submitters No Conflicts	CA344370	rs_147713329	10 SubmittersRCV000034241 RCV001331384 RCV001092496 RCV001847636
NM_025137.4(SPG11):c.6157G>A (p.Val2053Met)	SNV Germline	Chr15:44573595	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 11 Condition: not provided Amyotrophic lateral sclerosis type 5 Charcot-Marie-Tooth disease axonal type 2X Charcot-Marie-Tooth disease axonal type 2X Amyotrophic lateral sclerosis type 5 Hereditary spastic paraplegia 11	Criteria Provided Conflicting Classifications	CA344372	rs_149003934	7 SubmittersRCV000034242 RCV000594035 RCV002467533 RCV002467534 RCV002477051
NM_025137.4(SPG11):c.6477+4A>G	SNV Germline	Chr15:44570521	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 11 Amyotrophic lateral sclerosis type 5 Charcot-Marie-Tooth disease axonal type 2X Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA344377	rs_312262780	5 SubmittersRCV000034246 RCV002467535 RCV002467536 RCV001847637
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val)	SNV Germline	Chr16:89546737	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 7 Condition: not provided Spastic Paraplegia, Recessive Hereditary spastic paraplegia Inborn genetic diseases Dysarthria Spastic paraparesis Gait ataxia Cerebral cortical atrophy Optic nerve hypoplasia Intellectual disability Spastic ataxia Sensorimotor neuropathy SPG7-related disorder Frontotemporal dementia and/or amyotrophic lateral sclerosis 2	Criteria Provided Multiple Submitters No Conflicts	CA090884	rs_61755320	55 SubmittersRCV000034858 RCV000195683 RCV000270813 RCV000515835 RCV000623796 RCV000626837 RCV000677252 RCV000850200 RCV001003619 RCV003421943 RCV002463623
NM_014845.6(FIG4):c.311G>A (p.Gly104Asp)	SNV Germline	Chr6:109727130	Conflicting classifications of pathogenicity	Yunis-Varon syndrome Amyotrophic lateral sclerosis	No Assertion Criteria Provided	CA143922	rs_397509395	2 SubmittersRCV000043690 RCV003447105
NM_014845.6(FIG4):c.524T>C (p.Leu175Pro)	SNV Germline	Chr6:109735176	Conflicting classifications of pathogenicity	Yunis-Varon syndrome Amyotrophic lateral sclerosis	No Assertion Criteria Provided	CA143925	rs_397514707	2 SubmittersRCV000043692 RCV003447107
NM_005235.3(ERBB4):c.2780G>A (p.Arg927Gln)	SNV Germline	Chr2:211424241	Pathogenic	Condition: not provided Amyotrophic lateral sclerosis type 19	No Assertion Criteria Provided	CA216500	rs_397514262	2 SubmittersRCV000054812 RCV000074382
NM_005235.3(ERBB4):c.3823C>T (p.Arg1275Trp)	SNV Germline	Chr2:211383719	Conflicting classifications of pathogenicity	Condition: not provided Amyotrophic lateral sclerosis type 19	Criteria Provided Conflicting Classifications	CA216502	rs_397514263	4 SubmittersRCV000054813 RCV000074383
NM_031157.4(HNRNPA1):c.940G>A (p.Asp314Asn)	SNV Germline	Chr12:54283844	Likely pathogenic	Amyotrophic lateral sclerosis type 20 Condition: not provided	Criteria Provided Single Submitter	CA264779	rs_397518453	2 SubmittersRCV000055650 RCV001781389
NM_014043.4(CHMP2B):c.532-1G>C	SNV Germline	Chr3:87253711	Pathogenic	Condition: not provided Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	No Assertion Criteria Provided	CA224977	rs_63750652	2 SubmittersRCV000084277 RCV002055246
NM_002087.4(GRN):c.1252C>T (p.Arg418Ter)	SNV Germline	Chr17:44352087	Pathogenic	Condition: not provided GRN-related frontotemporal lobar degeneration with Tdp43 inclusions Neuronal ceroid lipofuscinosis 11 GRN-related frontotemporal lobar degeneration with Tdp43 inclusions Amyotrophic lateral sclerosis type 10	Criteria Provided Multiple Submitters No Conflicts	CA225327	rs_63751180	9 SubmittersRCV000084480 RCV000995559 RCV001390599 RCV002463638
NM_000744.7(CHRNA4):c.442C>T (p.Arg148Trp)	SNV Germline/somatic	Chr20:63350969	Conflicting classifications of pathogenicity	Tobacco use disorder Condition: not provided Inborn genetic diseases Autosomal dominant nocturnal frontal lobe epilepsy Amyotrophic lateral sclerosis not specified	Criteria Provided Conflicting Classifications	CA150428	rs_121912243	6 SubmittersRCV000084614 RCV000186922 RCV000190688 RCV000654323 RCV001095406 RCV001844035
NM_020919.4(ALS2):c.2761C>T (p.Arg921Ter)	SNV Germline	Chr2:201728592	Pathogenic/Likely pathogenic	Infantile-onset ascending hereditary spastic paralysis Amyotrophic lateral sclerosis type 2, juvenile Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA236114	rs_587777132	4 SubmittersRCV000087053 RCV001095478 RCV000171328
NM_213720.3(CHCHD10):c.176C>T (p.Ser59Leu)	SNV Germline	Chr22:23767459	Pathogenic/Likely pathogenic	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 Autosomal dominant mitochondrial myopathy with exercise intolerance Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA163486	rs_587777574	5 SubmittersRCV000128857 RCV000192232 RCV001268565
NM_015046.7(SETX):c.1504C>T (p.Arg502Trp)	SNV Germline	Chr9:132330094	Conflicting classifications of pathogenicity	Condition: not provided Amyotrophic lateral sclerosis type 4 Charcot-Marie-Tooth disease Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4	Criteria Provided Conflicting Classifications	CA233090	rs_534723946	8 SubmittersRCV000143813 RCV000626102 RCV000790203 RCV000791025 RCV001523409
NM_015046.7(SETX):c.1869A>C (p.Glu623Asp)	SNV Germline	Chr9:132329729	Conflicting classifications of pathogenicity	Condition: not provided Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Inborn genetic diseases SETX-related disorder	Criteria Provided Conflicting Classifications	CA233093	rs_139200312	7 SubmittersRCV000143814 RCV000794428 RCV002408640 RCV004544322
NM_015046.7(SETX):c.4225A>T (p.Asn1409Tyr)	SNV Germline	Chr9:132327373	Conflicting classifications of pathogenicity	Condition: not provided not specified Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Charcot-Marie-Tooth disease Amyotrophic lateral sclerosis type 4 Inborn genetic diseases SETX-related disorder	Criteria Provided Conflicting Classifications	CA233099	rs_373375060	9 SubmittersRCV000143816 RCV001002069 RCV001041860 RCV001167322 RCV000790204 RCV000988270 RCV002326848 RCV004532621
NM_015046.7(SETX):c.4273A>G (p.Lys1425Glu)	SNV Germline	Chr9:132327325	Conflicting classifications of pathogenicity	Condition: not provided Charcot-Marie-Tooth disease Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA233102	rs_534886444	9 SubmittersRCV000143817 RCV000790205 RCV001049421 RCV000988269 RCV002326849
NM_015046.7(SETX):c.7640T>C (p.Ile2547Thr)	SNV Germline	Chr9:132264633	Conflicting classifications of pathogenicity	Condition: not provided not specified Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Hereditary spastic paraplegia Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis	Criteria Provided Conflicting Classifications	CA233108	rs_151117904	14 SubmittersRCV000143819 RCV000251546 RCV000302102 RCV000393538 RCV001847770 RCV001080640 RCV001260210
NM_015046.7(SETX):c.3809C>T (p.Pro1270Leu)	SNV Germline	Chr9:132327789	Conflicting classifications of pathogenicity	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4 Condition: not provided Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4 Inborn genetic diseases SETX-related disorder	Criteria Provided Conflicting Classifications	CA048312	rs_144334281	11 SubmittersRCV000385882 RCV000329054 RCV000644851 RCV001084313 RCV002356315 RCV004532973
NM_006000.3(TUBA4A):c.958C>T (p.Arg320Cys)	SNV Germline	Chr2:219250741	Likely pathogenic	Amyotrophic lateral sclerosis type 22 Condition: not provided	Criteria Provided Single Submitter	CA185899	rs_730880025	2 SubmittersRCV000157034 RCV003227679
NM_006000.3(TUBA4A):c.959G>A (p.Arg320His)	SNV Germline	Chr2:219250740	Pathogenic	Amyotrophic lateral sclerosis type 22	No Assertion Criteria Provided	CA185900	rs_730880026	1 SubmittersRCV000157035
NM_006000.3(TUBA4A):c.1220G>A (p.Trp407Ter)	SNV Germline	Chr2:219250479	Pathogenic	Amyotrophic lateral sclerosis type 22	No Assertion Criteria Provided	CA185901	rs_730880027	1 SubmittersRCV000157036
NM_006000.3(TUBA4A):c.643C>T (p.Arg215Cys)	SNV Germline	Chr2:219251056	Pathogenic	Amyotrophic lateral sclerosis 22 with frontotemporal dementia	No Assertion Criteria Provided	CA185903	rs_730880028	1 SubmittersRCV000157037
NM_006000.3(TUBA4A):c.1147G>A (p.Ala383Thr)	SNV Germline	Chr2:219250552	Pathogenic	Amyotrophic lateral sclerosis type 22	No Assertion Criteria Provided	CA185904	rs_368743618	1 SubmittersRCV000157038
NM_006000.3(TUBA4A):c.433A>C (p.Thr145Pro)	SNV Germline	Chr2:219251266	Pathogenic	Amyotrophic lateral sclerosis type 22	No Assertion Criteria Provided	CA185905	rs_730880029	1 SubmittersRCV000157039
NM_213720.3(CHCHD10):c.44G>T (p.Arg15Leu)	SNV Germline	Chr22:23767591	Pathogenic	Condition: not provided Autosomal dominant mitochondrial myopathy with exercise intolerance Lower motor neuron syndrome with late-adult onset Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 Autosomal dominant mitochondrial myopathy with exercise intolerance Frontotemporal dementia and/or amyotrophic lateral sclerosis 2	Criteria Provided Multiple Submitters No Conflicts	CA235291	rs_730880030	4 SubmittersRCV000157069 RCV000804540 RCV001731147 RCV002463652
NM_020919.4(ALS2):c.2002G>T (p.Gly668Ter)	SNV Germline	Chr2:201744426	Pathogenic	Amyotrophic lateral sclerosis type 2, juvenile	No Assertion Criteria Provided	CA273787	rs_730882255	1 SubmittersRCV000162071
NM_007375.4(TARDBP):c.1150G>C (p.Gly384Arg)	SNV Germline	Chr1:11022559	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 10 Condition: not provided Amyotrophic lateral sclerosis type 10 TARDBP-related frontotemporal dementia	Criteria Provided Conflicting Classifications	CA347247	rs_797044594	3 SubmittersRCV000192195 RCV000713823 RCV000795453
NM_004738.5(VAPB):c.656G>T (p.Gly219Val)	SNV Germline	Chr20:58444159	Conflicting classifications of pathogenicity	not specified Condition: not provided Amyotrophic lateral sclerosis type 8 Adult-onset proximal spinal muscular atrophy, autosomal dominant	Criteria Provided Conflicting Classifications	CA236153	rs_786205553	4 SubmittersRCV000171347 RCV000514140 RCV002254543
NM_025137.4(SPG11):c.3037A>G (p.Lys1013Glu)	SNV Germline	Chr15:44615364	Conflicting classifications of pathogenicity	not specified Hereditary spastic paraplegia 11 Amyotrophic lateral sclerosis Condition: not provided Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA201295	rs_111347025	14 SubmittersRCV000175101 RCV000204165 RCV001260215 RCV002262769 RCV001847810
NM_000454.5(SOD1):c.341T>C (p.Ile114Thr)	SNV Germline	Chr21:31667359	Pathogenic/Likely pathogenic	Amyotrophic lateral sclerosis type 1 Condition: not provided Motor neuron disease SOD1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA275244	rs_121912441	10 SubmittersRCV000178103 RCV000255754 RCV000492500 RCV003398894
NM_001199397.3(NEK1):c.782G>A (p.Arg261His)	SNV Germline	Chr4:169585374	Conflicting classifications of pathogenicity	not specified Motor neuron disease Condition: not provided Short-rib thoracic dysplasia 6 with or without polydactyly Amyotrophic lateral sclerosis, susceptibility to, 24 NEK1-related disorder	Criteria Provided Conflicting Classifications	CA203762	rs_200161705	9 SubmittersRCV000180637 RCV000492285 RCV000659006 RCV001086419 RCV002287889 RCV003917685
NM_003900.5(SQSTM1):c.1160C>T (p.Pro387Leu)	SNV Germline	Chr5:179833777	Conflicting classifications of pathogenicity	Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 Condition: not provided Paget disease of bone 2, early-onset Frontotemporal dementia and/or amyotrophic lateral sclerosis 1	Criteria Provided Conflicting Classifications	CA203868	rs_776749939	3 SubmittersRCV000184065 RCV000481808 RCV001323701
NM_025137.4(SPG11):c.1270C>A (p.Pro424Thr)	SNV Germline	Chr15:44651677	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 11 Hereditary spastic paraplegia Inborn genetic diseases Condition: not provided Amyotrophic lateral sclerosis type 5 Charcot-Marie-Tooth disease axonal type 2X	Criteria Provided Conflicting Classifications	CA275497	rs_141596008	7 SubmittersRCV000185539 RCV001847822 RCV002372141 RCV001508762 RCV002467649 RCV002467650
NM_013254.4(TBK1):c.2138+2T>C	SNV Germline	Chr12:64498041	Pathogenic	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 Condition: not provided	Criteria Provided Single Submitter	CA10575728	rs_876657406	2 SubmittersRCV000185597 RCV001532209
NM_013254.4(TBK1):c.1340+1G>A	SNV Germline	Chr12:64486018	Pathogenic	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	No Assertion Criteria Provided	CA6669037	rs_767898276	1 SubmittersRCV000185599
NM_013254.4(TBK1):c.2086G>A (p.Glu696Lys)	SNV Germline	Chr12:64497987	Pathogenic	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	No Assertion Criteria Provided	CA203889	rs_748112833	1 SubmittersRCV000185600
NM_213720.3(CHCHD10):c.239C>T (p.Pro80Leu)	SNV Germline	Chr22:23767396	Conflicting classifications of pathogenicity	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 Lower motor neuron syndrome with late-adult onset Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 Autosomal dominant mitochondrial myopathy with exercise intolerance Lower motor neuron syndrome with late-adult onset Condition: not provided Amyotrophic lateral sclerosis Inborn genetic diseases CHCHD10-related disorder	Criteria Provided Conflicting Classifications	CA347297	rs_775332895	8 SubmittersRCV000192233 RCV000558062 RCV000990378 RCV001092755 RCV002221211 RCV002453685 RCV003927730
NM_001199397.3(NEK1):c.3107C>G (p.Ser1036Ter)	SNV Germline	Chr4:169424668	Pathogenic/Likely pathogenic	Short-rib thoracic dysplasia 6 with or without polydactyly Amyotrophic lateral sclerosis, susceptibility to, 24 Condition: not provided Short-rib thoracic dysplasia 6 with or without polydactyly Amyotrophic lateral sclerosis, susceptibility to, 24 NEK1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA210638	rs_199947197	12 SubmittersRCV000190609 RCV000585742 RCV000519626 RCV000763117 RCV003947589
NM_003384.3(VRK1):c.961C>T (p.Arg321Cys)	SNV Germline	Chr14:96860628	Conflicting classifications of pathogenicity	Pontocerebellar hypoplasia type 1A Juvenile amyotrophic lateral sclerosis Condition: not provided	Criteria Provided Conflicting Classifications	CA250406	rs_772731615	5 SubmittersRCV000191144 RCV001095537 RCV001705076
NM_025137.4(SPG11):c.7132T>C (p.Phe2378Leu)	SNV Germline	Chr15:44564566	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 11 not specified Intellectual disability Amyotrophic lateral sclerosis type 5 Hereditary spastic paraplegia Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA337736	rs_150571352	7 SubmittersRCV000198221 RCV000609376 RCV001252105 RCV001331387 RCV001847903 RCV002363018
NM_025137.4(SPG11):c.16G>A (p.Gly6Arg)	SNV Germline	Chr15:44663632	Conflicting classifications of pathogenicity	Condition: not provided Hereditary spastic paraplegia 11 Amyotrophic lateral sclerosis Amyotrophic lateral sclerosis type 5 Hereditary spastic paraplegia Inborn genetic diseases SPG11-related disorder	Criteria Provided Conflicting Classifications	CA337596	rs_200573434	11 SubmittersRCV000713414 RCV001086819 RCV001260214 RCV001336692 RCV001847902 RCV002399751 RCV003917821
NM_007126.5(VCP):c.463C>G (p.Arg155Gly)	SNV Germline	Chr9:35065364	Pathogenic/Likely pathogenic	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 Condition: not provided Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	Criteria Provided Multiple Submitters No Conflicts	CA277489	rs_121909330	3 SubmittersRCV000196145 RCV000494556 RCV002229498
NM_020919.4(ALS2):c.4261C>T (p.Arg1421Ter)	SNV Unknown	Chr2:201709900	Likely pathogenic	Infantile-onset ascending hereditary spastic paralysis Juvenile primary lateral sclerosis Amyotrophic lateral sclerosis type 2, juvenile Infantile-onset ascending hereditary spastic paralysis	Criteria Provided Multiple Submitters No Conflicts		rs_863225293	2 SubmittersRCV000986979 RCV002500830
NM_007126.5(VCP):c.271A>T (p.Asn91Tyr)	SNV Germline	Chr9:35067922	Pathogenic	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 INCLUSION BODY MYOPATHY WITHOUT EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1 Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	Criteria Provided Single Submitter	CA279635	rs_863225291	3 SubmittersRCV000201935 RCV001271088 RCV001271081 RCV002519583
NM_007126.5(VCP):c.553G>A (p.Glu185Lys)	SNV Germline	Chr9:35065274	Likely pathogenic	Charcot-Marie-Tooth disease type 2Y Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA213386	rs_864309501	4 SubmittersRCV000202444 RCV002229147 RCV002345722
NM_007126.5(VCP):c.290G>A (p.Gly97Glu)	SNV Germline	Chr9:35067903	Pathogenic	Charcot-Marie-Tooth disease type 2Y Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	Criteria Provided Single Submitter	CA213389	rs_864309502	2 SubmittersRCV000202492 RCV001853259
NM_025137.4(SPG11):c.1698T>G (p.Asp566Glu)	SNV Germline	Chr15:44633542	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 11 not specified Amyotrophic lateral sclerosis Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA350373	rs_79708848	11 SubmittersRCV000206327 RCV000444113 RCV001260213 RCV001847925
NM_025137.4(SPG11):c.6759C>G (p.Asp2253Glu)	SNV Germline	Chr15:44566301	Conflicting classifications of pathogenicity	Condition: not provided Amyotrophic lateral sclerosis Hereditary spastic paraplegia 11 Hereditary spastic paraplegia Inborn genetic diseases SPG11-related disorder	Criteria Provided Conflicting Classifications	CA7534007	rs_141818132	11 SubmittersRCV000224214 RCV001260212 RCV001085256 RCV001847948 RCV002365166 RCV003919902
NM_020919.4(ALS2):c.2241C>T (p.Tyr747=)	SNV Germline	Chr2:201741784	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 2, juvenile ALS2-related disorder Condition: not provided Infantile-onset ascending hereditary spastic paralysis Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA2058242	rs_3219160	8 SubmittersRCV000294407 RCV000388670 RCV000756988 RCV001082502 RCV001848004
NM_020919.4(ALS2):c.1115C>G (p.Pro372Arg)	SNV Germline	Chr2:201757758	Conflicting classifications of pathogenicity	Condition: not provided not specified Infantile-onset ascending hereditary spastic paralysis Amyotrophic lateral sclerosis type 2, juvenile Juvenile primary lateral sclerosis ALS2-related disorder Infantile-onset ascending hereditary spastic paralysis Amyotrophic lateral sclerosis type 2, juvenile Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA2058513	rs_190369242	8 SubmittersRCV000512695 RCV000516346 RCV000764355 RCV001137184 RCV001082210 RCV001139424 RCV001848003
NM_004984.4(KIF5A):c.2957C>T (p.Pro986Leu)	SNV Germline	Chr12:57581917	Conflicting classifications of pathogenicity	not specified Hereditary spastic paraplegia 10 Condition: not provided Spastic paraplegia Amyotrophic lateral sclerosis Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA6653261	rs_113247976	11 SubmittersRCV000424199 RCV000625002 RCV000713410 RCV001081669 RCV001260204 RCV001847959
NM_025137.4(SPG11):c.7256A>G (p.Lys2419Arg)	SNV Germline	Chr15:44563197	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 11 Condition: not provided not specified Amyotrophic lateral sclerosis Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA7533839	rs_76116949	14 SubmittersRCV000231950 RCV000514388 RCV000602319 RCV001260218 RCV001848014
NM_025137.4(SPG11):c.1602+10T>G	SNV Germline	Chr15:44648856	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 11 Condition: not provided Amyotrophic lateral sclerosis type 5 Charcot-Marie-Tooth disease axonal type 2X	Criteria Provided Conflicting Classifications	CA7535513	rs_201535432	3 SubmittersRCV000230118 RCV002261019 RCV002467686 RCV002467687
NM_014845.6(FIG4):c.1207C>T (p.Gln403Ter)	SNV Germline	Chr6:109760319	Pathogenic	Condition: not provided Charcot-Marie-Tooth disease type 4 Amyotrophic lateral sclerosis	Criteria Provided Multiple Submitters No Conflicts	CA10584275	rs_879253926	3 SubmittersRCV000236745 RCV001857797 RCV003447128
NM_006415.4(SPTLC1):c.58G>T (p.Ala20Ser)	SNV Germline	Chr9:92112562	Pathogenic	Condition: not provided Amyotrophic lateral sclerosis 27, juvenile	Criteria Provided Single Submitter	CA10584304	rs_879254294	2 SubmittersRCV000236861 RCV003223342
NM_013254.4(TBK1):c.964C>T (p.His322Tyr)	SNV Germline	Chr12:64481993	Conflicting classifications of pathogenicity	not specified Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 TBK1-related disorder	Criteria Provided Conflicting Classifications	CA6668932	rs_145905497	3 SubmittersRCV000238938 RCV000545768 RCV003930020
NM_003900.5(SQSTM1):c.98C>T (p.Ala33Val)	SNV Germline	Chr5:179821034	Conflicting classifications of pathogenicity	Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 Paget disease of bone 2, early-onset Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 Paget disease of bone 3 Condition: not provided Inborn genetic diseases not specified	Criteria Provided Conflicting Classifications	CA3600374	rs_200396166	6 SubmittersRCV000184066 RCV000652548 RCV001155398 RCV001636735 RCV002518539 RCV003387820
NM_020919.4(ALS2):c.1816-8C>T	SNV Germline	Chr2:201746756	Conflicting classifications of pathogenicity	not specified Amyotrophic lateral sclerosis type 2, juvenile ALS2-related disorder Condition: not provided Infantile-onset ascending hereditary spastic paralysis Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA2058339	rs_185911369	10 SubmittersRCV000251509 RCV000349374 RCV000400905 RCV000710520 RCV001087893 RCV001848038
NM_022173.4(TIA1):c.1070A>G (p.Asn357Ser)	SNV Germline	Chr2:70212810	Conflicting classifications of pathogenicity	Welander distal myopathy not specified Condition: not provided Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia TIA1-related disorder	Criteria Provided Conflicting Classifications	CA1697407	rs_116621885	7 SubmittersRCV000250393 RCV000516506 RCV000859341 RCV003989508 RCV003891965
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_003900.5(SQSTM1):c.924G>A (p.Ala308=)	SNV Germline	Chr5:179833201	Conflicting classifications of pathogenicity	not specified Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 Paget disease of bone 2, early-onset Paget disease of bone 2, early-onset Paget disease of bone 3 Condition: not provided	Criteria Provided Conflicting Classifications	CA3600727	rs_139482113	9 SubmittersRCV000242491 RCV000535702 RCV000625252 RCV001154682 RCV001576573
NM_014845.6(FIG4):c.1584-8T>A	SNV Germline	Chr6:109766721	Conflicting classifications of pathogenicity	not specified Amyotrophic lateral sclerosis type 11 Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease type 4J Charcot-Marie-Tooth disease Condition: not provided	Criteria Provided Conflicting Classifications	CA3956144	rs_199522051	8 SubmittersRCV000254421 RCV000275273 RCV000470402 RCV001094996 RCV001173270 RCV000711651
NM_014845.6(FIG4):c.2097-10C>G	SNV Germline	Chr6:109789584	Conflicting classifications of pathogenicity	not specified Condition: not provided Charcot-Marie-Tooth disease type 4 Amyotrophic lateral sclerosis type 11 Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 4J	Criteria Provided Conflicting Classifications	CA3956286	rs_142482745	11 SubmittersRCV000253875 RCV000711652 RCV001079241 RCV001154907 RCV001173268 RCV001154908
NM_015046.7(SETX):c.3345C>G (p.Ala1115=)	SNV Germline	Chr9:132328253	Conflicting classifications of pathogenicity	not specified Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4 Condition: not provided Hereditary spastic paraplegia Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5297423	rs_142020270	11 SubmittersRCV000252372 RCV001085624 RCV001311796 RCV001848032 RCV002321932
NM_015046.7(SETX):c.2975A>G (p.Lys992Arg)	SNV Germline	Chr9:132328623	Conflicting classifications of pathogenicity	not specified Amyotrophic lateral sclerosis type 4 Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Spastic paraplegia Condition: not provided Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA5297507	rs_61742937	14 SubmittersRCV000250229 RCV000387370 RCV000541126 RCV001391479 RCV001706351 RCV001168778 RCV001848031
NM_001008212.2(OPTN):c.489A>G (p.Glu163=)	SNV Germline	Chr10:13112572	Conflicting classifications of pathogenicity	not specified Primary open angle glaucoma Amyotrophic lateral sclerosis type 12 Condition: not provided Primary open angle glaucoma Amyotrophic lateral sclerosis type 12 Glaucoma 1, open angle, E	Criteria Provided Conflicting Classifications	CA5410636	rs_113811959	9 SubmittersRCV000249241 RCV000311095 RCV000365950 RCV000635241 RCV001079510
NM_013444.4(UBQLN2):c.1461C>A (p.Thr487=)	SNV Germline	ChrX:56565334	Conflicting classifications of pathogenicity	not specified Amyotrophic Lateral Sclerosis, Dominant Condition: not provided Amyotrophic lateral sclerosis type 15	Criteria Provided Conflicting Classifications	CA10430171	rs_45559331	10 SubmittersRCV000241665 RCV000399814 RCV000547371 RCV001079580
NM_003900.5(SQSTM1):c.286C>T (p.Arg96Ter)	SNV Germline	Chr5:179823038	Pathogenic	Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 Paget disease of bone 2, early-onset	Criteria Provided Multiple Submitters No Conflicts	CA10588825	rs_886039782	4 SubmittersRCV000256198 RCV001062487
NM_001199397.3(NEK1):c.1137T>A (p.Asp379Glu)	SNV Germline	Chr4:169561835	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis, susceptibility to, 24 Motor neuron disease Condition: not provided Short-rib thoracic dysplasia 6 with or without polydactyly NEK1-related disorder	Criteria Provided Conflicting Classifications	CA3137845	rs_372585344	7 SubmittersRCV000280217 RCV000492702 RCV000659005 RCV002518774 RCV003409388
NM_001008212.2(OPTN):c.941A>T (p.Gln314Leu)	SNV Germline	Chr10:13124053	Conflicting classifications of pathogenicity	Motor neuron disease Glaucoma 1, open angle, E Amyotrophic lateral sclerosis type 12 Primary open angle glaucoma Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA5410811	rs_142812715	5 SubmittersRCV000492386 RCV000557693 RCV002374436 RCV002059063
NM_013254.4(TBK1):c.452C>T (p.Ser151Phe)	SNV Germline	Chr12:64466994	Conflicting classifications of pathogenicity	Motor neuron disease Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	Criteria Provided Conflicting Classifications	CA6668820	rs_55824172	2 SubmittersRCV000492091 RCV001855019
NM_013254.4(TBK1):c.829C>G (p.Leu277Val)	SNV Germline	Chr12:64481858	Conflicting classifications of pathogenicity	Condition: not provided Motor neuron disease Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	Criteria Provided Conflicting Classifications	CA238264724	rs_905184241	3 SubmittersRCV000520272 RCV000492371 RCV001855020
NM_013254.4(TBK1):c.1330C>T (p.Arg444Ter)	SNV Germline	Chr12:64486007	Pathogenic; other	Motor neuron disease Condition: not provided Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	Criteria Provided Multiple Submitters No Conflicts	CA6669034	rs_142030898	3 SubmittersRCV000492391 RCV000760460 RCV001859503
NM_001378743.1(CYLD):c.1112C>A (p.Ser371Ter)	SNV Germline	Chr16:50777915	Pathogenic	Familial cylindromatosis Condition: not provided Brooke-Spiegler syndrome Familial cylindromatosis Trichoepithelioma, multiple familial, 1 Frontotemporal dementia and/or amyotrophic lateral sclerosis 8	Criteria Provided Multiple Submitters No Conflicts	CA10590069	rs_886040872	5 SubmittersRCV000257976 RCV000760471 RCV001814137 RCV003469207
NM_001378743.1(CYLD):c.2299A>T (p.Lys767Ter)	SNV Germline	Chr16:50792654	Pathogenic	Familial cylindromatosis Brooke-Spiegler syndrome Frontotemporal dementia and/or amyotrophic lateral sclerosis 8	Criteria Provided Multiple Submitters No Conflicts	CA10590086	rs_886040888	3 SubmittersRCV000257977 RCV002466483 RCV003469208
NM_007126.5(VCP):c.475C>T (p.Arg159Cys)	SNV Germline	Chr9:35065352	Pathogenic/Likely pathogenic	Condition: not provided Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia Frontotemporal dementia and/or amyotrophic lateral sclerosis 6	Criteria Provided Multiple Submitters No Conflicts	CA5039453	rs_387906789	6 SubmittersRCV000333881 RCV001095425 RCV002229732
NM_015046.7(SETX):c.4816C>T (p.Arg1606Ter)	SNV Germline	Chr9:132326782	Pathogenic	Condition: not provided Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	Criteria Provided Multiple Submitters No Conflicts	CA5297136	rs_759213174	3 SubmittersRCV000364271 RCV002518808 RCV003233534
NM_007126.5(VCP):c.283C>T (p.Arg95Cys)	SNV Germline	Chr9:35067910	Conflicting classifications of pathogenicity	Condition: not provided Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 Amyotrophic lateral sclerosis Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia Spastic paraplegia Inborn genetic diseases Frontotemporal dementia and/or amyotrophic lateral sclerosis 6	Criteria Provided Conflicting Classifications	CA10603200	rs_121909332	9 SubmittersRCV000280148 RCV000761344 RCV001095441 RCV001215048 RCV001391611 RCV002436094 RCV004556775
NM_004960.4(FUS):c.1574C>T (p.Pro525Leu)	SNV Germline	Chr16:31191431	Pathogenic	Condition: not provided Juvenile amyotrophic lateral sclerosis Amyotrophic lateral sclerosis type 6 Tremor, hereditary essential, 4 FUS-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA10603390	rs_886041390	6 SubmittersRCV000381069 RCV001095439 RCV001069729 RCV003401225
NM_004082.5(DCTN1):c.414+1G>A	SNV Germline	Chr2:74376741	Conflicting classifications of pathogenicity	Condition: not provided Amyotrophic lateral sclerosis type 1 Neuronopathy, distal hereditary motor, type 7B Perry syndrome See cases Inborn genetic diseases DCTN1-related disorder	Criteria Provided Conflicting Classifications	CA1722488	rs_576198476	6 SubmittersRCV000332896 RCV000765701 RCV002252080 RCV002328763 RCV004529462
NM_007126.5(VCP):c.1584C>T (p.Ala528=)	SNV Germline	Chr9:35060424	Conflicting classifications of pathogenicity	Condition: not provided Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 not specified Inborn genetic diseases Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 VCP-related disorder	Criteria Provided Conflicting Classifications	CA5039215	rs_147623367	13 SubmittersRCV000321351 RCV001168925 RCV001081085 RCV001580089 RCV002401981 RCV001168167 RCV004535294
NM_025137.4(SPG11):c.316G>A (p.Ala106Thr)	SNV Germline	Chr15:44660558	Conflicting classifications of pathogenicity	Condition: not provided Hereditary spastic paraplegia 11 Inborn genetic diseases Amyotrophic lateral sclerosis type 5 Charcot-Marie-Tooth disease axonal type 2X	Criteria Provided Conflicting Classifications	CA7535871	rs_201842512	6 SubmittersRCV000296854 RCV000692595 RCV002321952 RCV002467713 RCV002467714
NM_007126.5(VCP):c.*4G>T	SNV Germline	Chr9:35057113	Conflicting classifications of pathogenicity	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 not specified Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 Intellectual disability Condition: not provided	Criteria Provided Conflicting Classifications	CA5039057	rs_201091341	9 SubmittersRCV000291446 RCV000301970 RCV000376145 RCV001252622 RCV001559813
NM_025137.4(SPG11):c.979C>G (p.Leu327Val)	SNV Germline	Chr15:44652157	Conflicting classifications of pathogenicity	Condition: not provided Hereditary spastic paraplegia 11 Inborn genetic diseases Amyotrophic lateral sclerosis type 5 Charcot-Marie-Tooth disease axonal type 2X	Criteria Provided Conflicting Classifications	CA7535662	rs_146109825	5 SubmittersRCV000259263 RCV000811912 RCV002379128 RCV002467715 RCV002467716
NM_015046.7(SETX):c.3056C>A (p.Ser1019Tyr)	SNV Germline	Chr9:132328542	Conflicting classifications of pathogenicity	Condition: not provided Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5297486	rs_749204574	4 SubmittersRCV000321789 RCV001222571 RCV002519195
NM_015046.7(SETX):c.1880T>C (p.Met627Thr)	SNV Germline	Chr9:132329718	Conflicting classifications of pathogenicity	Condition: not provided Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 SETX-related disorder	Criteria Provided Conflicting Classifications	CA5297703	rs_199707503	4 SubmittersRCV000272686 RCV001087861 RCV001165957 RCV001165958 RCV004543070
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_007126.5(VCP):c.954C>T (p.Gly318=)	SNV Germline	Chr9:35062130	Conflicting classifications of pathogenicity	Condition: not provided Inclusion body myopathy with Paget disease of bone and frontotemporal dementia Frontotemporal dementia and/or amyotrophic lateral sclerosis 6	Criteria Provided Conflicting Classifications	CA5039344	rs_377316335	2 SubmittersRCV000338106 RCV001069332
NM_020919.4(ALS2):c.3876G>A (p.Lys1292=)	SNV Germline	Chr2:201715800	Conflicting classifications of pathogenicity	ALS2-related disorder Amyotrophic lateral sclerosis type 2, juvenile Infantile-onset ascending hereditary spastic paralysis	Criteria Provided Conflicting Classifications	CA2057735	rs_200417604	2 SubmittersRCV000313623 RCV000368212 RCV000863516
NM_020919.4(ALS2):c.2909G>T (p.Gly970Val)	SNV Germline	Chr2:201727708	Conflicting classifications of pathogenicity	ALS2-related disorder Amyotrophic lateral sclerosis type 2, juvenile Infantile-onset ascending hereditary spastic paralysis Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA2058054	rs_375742430	3 SubmittersRCV000316456 RCV000361538 RCV000703570 RCV001848676
NM_020919.4(ALS2):c.2479A>T (p.Thr827Ser)	SNV Germline	Chr2:201733377	Conflicting classifications of pathogenicity	ALS2-related disorder Peripheral axonal neuropathy Infantile-onset ascending hereditary spastic paralysis Tip-toe gait not specified Condition: not provided Hereditary spastic paraplegia Amyotrophic lateral sclerosis type 2, juvenile	Criteria Provided Conflicting Classifications	CA2058171	rs_202219507	8 SubmittersRCV000382737 RCV000414980 RCV000813075 RCV001358657 RCV001289224 RCV001580056 RCV001848678 RCV000328276
NM_020919.4(ALS2):c.3206G>A (p.Gly1069Glu)	SNV Germline	Chr2:201726526	Conflicting classifications of pathogenicity	ALS2-related disorder Amyotrophic lateral sclerosis type 2, juvenile Hereditary spastic paraplegia Infantile-onset ascending hereditary spastic paralysis Amyotrophic lateral sclerosis Condition: not provided	Criteria Provided Conflicting Classifications	CA2057955	rs_200706696	5 SubmittersRCV000261194 RCV000355910 RCV000515815 RCV000863616 RCV001260560 RCV001590976
NM_020919.4(ALS2):c.1677A>G (p.Lys559=)	SNV Germline	Chr2:201753206	Conflicting classifications of pathogenicity	Amyotrophic Lateral Sclerosis, Recessive ALS2-related disorder Infantile-onset ascending hereditary spastic paralysis Condition: not provided Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA2058388	rs_367640165	7 SubmittersRCV000306041 RCV000407711 RCV000546027 RCV001580129 RCV001848679
NM_020919.4(ALS2):c.4416G>A (p.Thr1472=)	SNV Germline	Chr2:201707010	Conflicting classifications of pathogenicity	ALS2-related disorder Amyotrophic lateral sclerosis type 2, juvenile not specified Infantile-onset ascending hereditary spastic paralysis Condition: not provided	Criteria Provided Conflicting Classifications	CA2057570	rs_200202953	5 SubmittersRCV000276464 RCV000370877 RCV001289226 RCV000862055 RCV001571366
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 Perry syndrome Neuronopathy, distal hereditary motor, type 7B Amyotrophic lateral sclerosis type 1	Criteria Provided Conflicting Classifications	CA10613975	rs_886056332	3 SubmittersRCV000296007 RCV000387824 RCV002450911 RCV002519986
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 Perry syndrome Neuronopathy, distal hereditary motor, type 7B Amyotrophic lateral sclerosis type 1 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 Perry syndrome Perry syndrome Neuronopathy, distal hereditary motor, type 7B Amyotrophic lateral sclerosis type 1 DCTN1-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1721991	rs_764443534	5 SubmittersRCV000308445 RCV000392721 RCV000696804 RCV003969969 RCV002418203
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 Perry syndrome Neuronopathy, distal hereditary motor, type 7B 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 Amyotrophic lateral sclerosis type 1 Neuronopathy, distal hereditary motor, type 7B Perry syndrome 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 Perry syndrome Neuronopathy, distal hereditary motor, type 7B Amyotrophic lateral sclerosis type 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10615998	rs_886056328	3 SubmittersRCV000298235 RCV000353157 RCV000704940 RCV002348089
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 Perry syndrome Neuronopathy, distal hereditary motor, type 7B	Criteria Provided Conflicting Classifications	CA1721587	rs_374049568	2 SubmittersRCV000311315 RCV000392129 RCV002057711
NM_004082.5(DCTN1):c.3146G>A (p.Arg1049Gln)	SNV Germline	Chr2:74365125	Conflicting classifications of pathogenicity	Neuronopathy, distal hereditary motor, type 7B Perry syndrome not specified Condition: not provided Perry syndrome Neuronopathy, distal hereditary motor, type 7B Amyotrophic lateral sclerosis type 1 Inborn genetic diseases DCTN1-related disorder	Criteria Provided Conflicting Classifications	CA1721615	rs_72659383	13 SubmittersRCV000333292 RCV000362337 RCV000517373 RCV000550997 RCV001083433 RCV002323545 RCV003932341
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 Perry syndrome Neuronopathy, distal hereditary motor, type 7B Amyotrophic lateral sclerosis type 1 Inborn genetic diseases DCTN1-related disorder	Criteria Provided Conflicting Classifications	CA1722613	rs_150204862	5 SubmittersRCV000288698 RCV000327299 RCV000555240 RCV001088611 RCV002356469 RCV003969970
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 not specified Perry syndrome Neuronopathy, distal hereditary motor, type 7B Amyotrophic lateral sclerosis type 1 Condition: not provided Inborn genetic diseases DCTN1-related disorder	Criteria Provided Conflicting Classifications	CA1721887	rs_754780894	6 SubmittersRCV000278941 RCV000336449 RCV000517874 RCV000555724 RCV000997172 RCV002446597 RCV003418060
NM_014043.4(CHMP2B):c.218C>T (p.Thr73Met)	SNV Germline	Chr3:87245805	Conflicting classifications of pathogenicity	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 not specified CHMP2B-related disorder	Criteria Provided Conflicting Classifications	CA2500938	rs_192188850	4 SubmittersRCV000390491 RCV000516998 RCV003401367
NM_018834.6(MATR3):c.2504A>G (p.Asn835Ser)	SNV Germline	Chr5:139329355	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 21 MATR3-related disorder	Criteria Provided Conflicting Classifications	CA3433486	rs_201165929	4 SubmittersRCV000703755 RCV004544656
NM_018834.6(MATR3):c.1734+11T>G	SNV Germline	Chr5:139322040	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 21	Criteria Provided Conflicting Classifications	CA10620309	rs_886059990	2 SubmittersRCV000304798
NM_018834.6(MATR3):c.1879C>G (p.Gln627Glu)	SNV Germline	Chr5:139322698	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 21 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3433262	rs_772231433	3 SubmittersRCV000260341 RCV004021984
NM_018834.6(MATR3):c.1991A>C (p.Glu664Ala)	SNV Germline	Chr5:139322810	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 21	Criteria Provided Conflicting Classifications	CA3433283	rs_139589527	3 SubmittersRCV000878495
NM_018834.6(MATR3):c.2031C>T (p.Asp677=)	SNV Germline	Chr5:139322850	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 21	Criteria Provided Conflicting Classifications	CA3433289	rs_557085910	2 SubmittersRCV000330177
NM_003900.5(SQSTM1):c.912G>A (p.Thr304=)	SNV Germline	Chr5:179833189	Conflicting classifications of pathogenicity	Paget disease of bone 3 Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 Paget disease of bone 2, early-onset	Criteria Provided Conflicting Classifications	CA3600723	rs_370970067	2 SubmittersRCV000398656 RCV002058528
NM_014845.6(FIG4):c.243A>G (p.Lys81=)	SNV Germline	Chr6:109716522	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 11 Charcot-Marie-Tooth disease type 4J Charcot-Marie-Tooth disease type 4	Criteria Provided Conflicting Classifications	CA3955715	rs_200257799	2 SubmittersRCV000291963 RCV000346970 RCV001449133
NM_014845.6(FIG4):c.2547-11A>G	SNV Germline	Chr6:109825077	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 11 Charcot-Marie-Tooth disease type 4J Charcot-Marie-Tooth disease type 4	Criteria Provided Conflicting Classifications	CA3956445	rs_745613994	2 SubmittersRCV000309055 RCV000363623 RCV002061302
NM_014845.6(FIG4):c.2547-5T>G	SNV Germline	Chr6:109825083	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 11 Charcot-Marie-Tooth disease type 4 Condition: not provided Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 4J Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3956446	rs_200267243	8 SubmittersRCV000324185 RCV000475395 RCV000858660 RCV001173264 RCV001095001 RCV002429318
NM_003900.5(SQSTM1):c.612A>G (p.Gly204=)	SNV Germline	Chr5:179824262	Conflicting classifications of pathogenicity	Paget disease of bone 3 Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 Paget disease of bone 2, early-onset	Criteria Provided Conflicting Classifications	CA10624299	rs_878982215	2 SubmittersRCV000387568 RCV000544510
NM_003900.5(SQSTM1):c.687G>A (p.Ser229=)	SNV Germline	Chr5:179825159	Conflicting classifications of pathogenicity	Paget disease of bone 3 Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 Paget disease of bone 2, early-onset	Criteria Provided Conflicting Classifications	CA3600618	rs_140341924	2 SubmittersRCV000293194 RCV001365629
NM_014845.6(FIG4):c.262C>T (p.Arg88Ter)	SNV Germline	Chr6:109716541	Pathogenic	Amyotrophic lateral sclerosis type 11 Charcot-Marie-Tooth disease type 4J Charcot-Marie-Tooth disease type 4	Criteria Provided Multiple Submitters No Conflicts	CA3955720	rs_753207473	4 SubmittersRCV000987758 RCV001729560 RCV001861266
NM_014845.6(FIG4):c.350C>T (p.Ala117Val)	SNV Germline	Chr6:109727169	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 4 Amyotrophic lateral sclerosis type 11 Charcot-Marie-Tooth disease type 4J Condition: not provided	Criteria Provided Conflicting Classifications	CA3955749	rs_551339249	3 SubmittersRCV000288549 RCV000343538 RCV001095019 RCV001545776
NM_014845.6(FIG4):c.1272-10C>G	SNV Germline	Chr6:109762081	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 11 Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 4J	Criteria Provided Conflicting Classifications	CA3956032	rs_201293291	3 SubmittersRCV000260196 RCV000654276 RCV001173514 RCV001095131
NM_014845.6(FIG4):c.1863C>A (p.Thr621=)	SNV Germline	Chr6:109777034	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 11 not specified Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease type 4J Condition: not provided	Criteria Provided Conflicting Classifications	CA3956195	rs_201744761	7 SubmittersRCV000381459 RCV000604481 RCV001173281 RCV000545092 RCV001094997 RCV001706587
NM_014845.6(FIG4):c.2568G>T (p.Ser856=)	SNV Germline	Chr6:109825109	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 11 Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease type 4J FIG4-related disorder	Criteria Provided Conflicting Classifications	CA3956457	rs_140055056	3 SubmittersRCV000280997 RCV000317635 RCV001095030 RCV003902376
NM_014845.6(FIG4):c.2223G>T (p.Thr741=)	SNV Germline	Chr6:109791418	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 4J Amyotrophic lateral sclerosis type 11 Inborn genetic diseases Charcot-Marie-Tooth disease type 4	Criteria Provided Conflicting Classifications	CA3956327	rs_181012139	3 SubmittersRCV000312621 RCV000406778 RCV002429317 RCV002524462
NM_014845.6(FIG4):c.2547-4A>G	SNV Germline	Chr6:109825084	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 11 Charcot-Marie-Tooth disease type 4J Charcot-Marie-Tooth disease type 4	Criteria Provided Conflicting Classifications	CA10625700	rs_886060985	2 SubmittersRCV000265862 RCV000360172 RCV001404072
NM_015046.7(SETX):c.*266A>G	SNV Germline	Chr9:132263973	Conflicting classifications of pathogenicity	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4	Criteria Provided Conflicting Classifications	CA10626629	rs_575959163	1 SubmittersRCV000298691 RCV000391273
NM_015046.7(SETX):c.5283A>G (p.Gln1761=)	SNV Germline	Chr9:132311848	Conflicting classifications of pathogenicity	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4 not specified Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4 Hereditary spastic paraplegia Condition: not provided	Criteria Provided Conflicting Classifications	CA5297024	rs_139063885	6 SubmittersRCV000284631 RCV000376752 RCV001643106 RCV001080441 RCV001848725 RCV003422370
NM_015046.7(SETX):c.3200C>T (p.Thr1067Ile)	SNV Germline	Chr9:132328398	Conflicting classifications of pathogenicity	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5297452	rs_374091487	5 SubmittersRCV000304137 RCV000393561 RCV002523743 RCV001810866 RCV002323570
NM_015046.7(SETX):c.2469C>G (p.Phe823Leu)	SNV Germline	Chr9:132329129	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 not specified Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4	Criteria Provided Conflicting Classifications	CA5297588	rs_141163823	3 SubmittersRCV000337733 RCV000375508 RCV001662354 RCV001509826
NM_007126.5(VCP):c.1360-6T>C	SNV Germline	Chr9:35060929	Conflicting classifications of pathogenicity	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	Criteria Provided Conflicting Classifications	CA5039263	rs_370296303	2 SubmittersRCV000299794 RCV000354748 RCV003766109
NM_015046.7(SETX):c.7874C>T (p.Pro2625Leu)	SNV Germline	Chr9:132264399	Conflicting classifications of pathogenicity	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4 Condition: not provided Inborn genetic diseases Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4	Criteria Provided Conflicting Classifications	CA5296299	rs_553413088	4 SubmittersRCV000299852 RCV000359404 RCV001662350 RCV003372694 RCV003766099
NM_015046.7(SETX):c.7724C>T (p.Pro2575Leu)	SNV Germline	Chr9:132264549	Conflicting classifications of pathogenicity	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4 not specified Condition: not provided Hereditary spastic paraplegia Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5296347	rs_34000644	10 SubmittersRCV000300843 RCV000337112 RCV000556745 RCV000507046 RCV001643105 RCV001848723 RCV002402088
NM_015046.7(SETX):c.7287+9C>A	SNV Germline	Chr9:132269606	Conflicting classifications of pathogenicity	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4	Criteria Provided Conflicting Classifications	CA5296454	rs_769170686	2 SubmittersRCV000272756 RCV000327969 RCV002523742
NM_015046.7(SETX):c.6675C>T (p.Tyr2225=)	SNV Germline	Chr9:132278237	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Inborn genetic diseases SETX-related disorder Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4	Criteria Provided Conflicting Classifications	CA5296643	rs_200382898	4 SubmittersRCV000281744 RCV000339149 RCV002365438 RCV004530477 RCV003766100
NM_015046.7(SETX):c.4053A>G (p.Gln1351=)	SNV Germline	Chr9:132327545	Conflicting classifications of pathogenicity	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10629234	rs_886063553	2 SubmittersRCV000263119 RCV000355651 RCV002323569
NM_015046.7(SETX):c.3900C>T (p.Ser1300=)	SNV Germline	Chr9:132327698	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Inborn genetic diseases Condition: not provided Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4	Criteria Provided Conflicting Classifications	CA10629236	rs_886063554	4 SubmittersRCV000289144 RCV000381150 RCV002356500 RCV002472997 RCV003766101
NM_015046.7(SETX):c.3117A>G (p.Ile1039Met)	SNV Germline	Chr9:132328481	Conflicting classifications of pathogenicity	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4 not specified Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4	Criteria Provided Conflicting Classifications	CA10629238	rs_886063555	3 SubmittersRCV000307504 RCV000364537 RCV000518443 RCV001243853
NM_015046.7(SETX):c.2672T>C (p.Val891Ala)	SNV Germline	Chr9:132328926	Conflicting classifications of pathogenicity	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4 Condition: not provided Neuronopathy, distal hereditary motor, autosomal dominant Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4 Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA5297553	rs_148181729	7 SubmittersRCV000280363 RCV000372562 RCV000644850 RCV000789558 RCV001079301 RCV001848726
NM_015046.7(SETX):c.2003A>G (p.Asn668Ser)	SNV Germline	Chr9:132329595	Conflicting classifications of pathogenicity	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4	Criteria Provided Conflicting Classifications	CA5297681	rs_780898043	3 SubmittersRCV000344541 RCV000390382 RCV000803584
NM_015046.7(SETX):c.9A>G (p.Thr3=)	SNV Germline	Chr9:132349420	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 4 Inborn genetic diseases Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	Criteria Provided Conflicting Classifications	CA5298155	rs_139681694	2 SubmittersRCV000284093 RCV002379258 RCV000378423
NM_001008212.2(OPTN):c.444G>A (p.Val148=)	SNV Germline	Chr10:13112527	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 12 Inborn genetic diseases Primary open angle glaucoma Primary open angle glaucoma Glaucoma 1, open angle, E Amyotrophic lateral sclerosis type 12	Criteria Provided Conflicting Classifications	CA5410625	rs_780011442	3 SubmittersRCV000402060 RCV002328800 RCV000314652 RCV002059530
NM_015046.7(SETX):c.7914C>T (p.Phe2638=)	SNV Germline	Chr9:132264359	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Condition: not provided Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4 not specified	Criteria Provided Conflicting Classifications	CA5296290	rs_80296256	8 SubmittersRCV000263441 RCV000353602 RCV000876067 RCV001081221 RCV001700364
NM_015046.7(SETX):c.7735G>A (p.Val2579Ile)	SNV Germline	Chr9:132264538	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Condition: not provided Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5296343	rs_144121978	4 SubmittersRCV000335520 RCV000399643 RCV001509370 RCV001861344 RCV002402087
NM_015046.7(SETX):c.6313C>T (p.Arg2105Trp)	SNV Germline	Chr9:132288247	Conflicting classifications of pathogenicity	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5296776	rs_142843968	6 SubmittersRCV000342521 RCV000407208 RCV001358835 RCV001662351 RCV002365439
NM_015046.7(SETX):c.4924C>A (p.Pro1642Thr)	SNV Germline	Chr9:132326674	Conflicting classifications of pathogenicity	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4 Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	Criteria Provided Conflicting Classifications	CA5297106	rs_375942182	2 SubmittersRCV000323303 RCV000380301 RCV002524587
NM_015046.7(SETX):c.1391C>T (p.Ser464Leu)	SNV Germline	Chr9:132330207	Conflicting classifications of pathogenicity	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4 Condition: not provided SETX-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5297785	rs_200614765	6 SubmittersRCV000262880 RCV000320659 RCV000687686 RCV002472998 RCV004544713 RCV002392927
NM_015046.7(SETX):c.60C>T (p.Arg20=)	SNV Germline	Chr9:132349369	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Hereditary spastic paraplegia Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5298141	rs_553346505	3 SubmittersRCV000272372 RCV000367105 RCV001848729 RCV002356501
NM_015046.7(SETX):c.7814G>A (p.Arg2605Gln)	SNV Germline	Chr9:132264459	Conflicting classifications of pathogenicity	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4 Condition: not provided Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4	Criteria Provided Conflicting Classifications	CA5296314	rs_543247171	7 SubmittersRCV000328640 RCV000383186 RCV000999251 RCV000699627
NM_015046.7(SETX):c.7787C>T (p.Ala2596Val)	SNV Germline	Chr9:132264486	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Inborn genetic diseases Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	Criteria Provided Conflicting Classifications	CA5296324	rs_200507089	3 SubmittersRCV000293531 RCV000348329 RCV002411265 RCV002523741
NM_015046.7(SETX):c.7406T>C (p.Leu2469Pro)	SNV Germline	Chr9:132264867	Conflicting classifications of pathogenicity	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4 Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA5296398	rs_151304085	4 SubmittersRCV000266732 RCV000361458 RCV002524586 RCV002379256 RCV004546488
NM_015046.7(SETX):c.4612C>T (p.Arg1538Trp)	SNV Germline	Chr9:132326986	Conflicting classifications of pathogenicity	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4 SETX-related disorder Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA5297167	rs_147018359	5 SubmittersRCV000348389 RCV000400900 RCV000644810 RCV004544710 RCV002338959 RCV003482252
NM_015046.7(SETX):c.4020G>T (p.Lys1340Asn)	SNV Germline	Chr9:132327578	Conflicting classifications of pathogenicity	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5297284	rs_368323660	4 SubmittersRCV000320579 RCV000358967 RCV000807443 RCV002356498
NM_015046.7(SETX):c.710A>G (p.Tyr237Cys)	SNV Germline	Chr9:132336304	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	Criteria Provided Conflicting Classifications	CA5297977	rs_138538492	2 SubmittersRCV000289058 RCV000346458 RCV001861345
NM_007126.5(VCP):c.*700C>A	SNV Germline	Chr9:35056417	Conflicting classifications of pathogenicity	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 Condition: not provided	Criteria Provided Conflicting Classifications	CA10633600	rs_537730311	2 SubmittersRCV000279189 RCV000373728 RCV003430970
NM_001008212.2(OPTN):c.573A>G (p.Ser191=)	SNV Germline	Chr10:13116287	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 12 Primary open angle glaucoma	Criteria Provided Conflicting Classifications	CA5410675	rs_773095721	1 SubmittersRCV000267937 RCV000323047
NM_001008212.2(OPTN):c.*1251C>G	SNV Germline	Chr10:13138117	Conflicting classifications of pathogenicity	Primary open angle glaucoma Amyotrophic lateral sclerosis type 12	Criteria Provided Conflicting Classifications	CA10634931	rs_542617940	1 SubmittersRCV000326379 RCV000380977
NM_001008212.2(OPTN):c.1569G>A (p.Ala523=)	SNV Germline	Chr10:13133538	Conflicting classifications of pathogenicity	Primary open angle glaucoma Primary open angle glaucoma Glaucoma 1, open angle, E Amyotrophic lateral sclerosis type 12 Inborn genetic diseases Amyotrophic lateral sclerosis type 12	Criteria Provided Conflicting Classifications	CA5411021	rs_771316696	3 SubmittersRCV000401566 RCV002520542 RCV002402014 RCV000305057
NM_025137.4(SPG11):c.5595A>G (p.Thr1865=)	SNV Germline	Chr15:44584085	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 11 Inborn genetic diseases Charcot-Marie-Tooth disease axonal type 2X Amyotrophic lateral sclerosis type 5	Criteria Provided Conflicting Classifications	CA7534385	rs_375403626	4 SubmittersRCV000685697 RCV002348056 RCV002467737 RCV002467736
NM_004960.4(FUS):c.192A>G (p.Thr64=)	SNV Germline	Chr16:31183859	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 6 Amyotrophic lateral sclerosis type 6 Tremor, hereditary essential, 4 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8023532	rs_776333956	4 SubmittersRCV000352976 RCV002521010 RCV003409496 RCV004021657
NM_025137.4(SPG11):c.581C>T (p.Pro194Leu)	SNV Germline	Chr15:44659165	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 11 Amyotrophic lateral sclerosis type 5 Charcot-Marie-Tooth disease axonal type 2X	Criteria Provided Conflicting Classifications	CA7535791	rs_573482671	3 SubmittersRCV000348489 RCV002467754 RCV002467755
NM_004984.4(KIF5A):c.2927C>T (p.Thr976Ile)	SNV Germline	Chr12:57581887	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 10 Spastic paraplegia Amyotrophic lateral sclerosis Hereditary spastic paraplegia Condition: not provided	Criteria Provided Conflicting Classifications	CA6653255	rs_139801016	6 SubmittersRCV000391548 RCV001039954 RCV001260220 RCV001848094 RCV000994942
NM_004960.4(FUS):c.937-10C>T	SNV Germline	Chr16:31189655	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 6 Amyotrophic lateral sclerosis type 6 Tremor, hereditary essential, 4	Criteria Provided Conflicting Classifications	CA8023887	rs_199705472	2 SubmittersRCV000383521 RCV002056488
NM_004738.5(VAPB):c.*5095T>G	SNV Germline	Chr20:58449330	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 8 Adult-onset proximal spinal muscular atrophy, autosomal dominant Condition: not provided	Criteria Provided Conflicting Classifications	CA9924616	rs_143424619	2 SubmittersRCV000351005 RCV000407007 RCV003326415
NM_001378743.1(CYLD):c.59T>G (p.Ile20Ser)	SNV Germline	Chr16:50749757	Conflicting classifications of pathogenicity	Brooke-Spiegler syndrome Familial multiple trichoepitheliomata Familial cylindromatosis Condition: not provided Frontotemporal dementia and/or amyotrophic lateral sclerosis 8	Criteria Provided Conflicting Classifications	CA8052119	rs_764097337	3 SubmittersRCV000311859 RCV000370163 RCV000404707 RCV002264928 RCV003469254
NM_004960.4(FUS):c.951G>A (p.Thr317=)	SNV Germline	Chr16:31189679	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 6 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8023892	rs_771216742	2 SubmittersRCV000289061 RCV002374538
NM_004738.5(VAPB):c.618C>T (p.Ser206=)	SNV Germline	Chr20:58444121	Conflicting classifications of pathogenicity	Adult-onset proximal spinal muscular atrophy, autosomal dominant Amyotrophic lateral sclerosis type 8 Inborn genetic diseases Amyotrophic lateral sclerosis type 8 Adult-onset proximal spinal muscular atrophy, autosomal dominant	Criteria Provided Conflicting Classifications	CA9924316	rs_747208140	3 SubmittersRCV000264195 RCV000321639 RCV002356472 RCV002520024
NM_013444.4(UBQLN2):c.243A>G (p.Leu81=)	SNV Germline	ChrX:56564116	Conflicting classifications of pathogenicity	Amyotrophic Lateral Sclerosis, Dominant Amyotrophic lateral sclerosis type 15	Criteria Provided Conflicting Classifications	CA10430051	rs_778382794	2 SubmittersRCV000385557 RCV001167821
NM_004738.5(VAPB):c.30C>T (p.Leu10=)	SNV Germline	Chr20:58389489	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 8 Adult-onset proximal spinal muscular atrophy, autosomal dominant Amyotrophic lateral sclerosis type 8 Adult-onset proximal spinal muscular atrophy, autosomal dominant Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10652677	rs_886056811	3 SubmittersRCV000347700 RCV000402917 RCV002254693 RCV002323547
NM_004738.5(VAPB):c.332C>T (p.Pro111Leu)	SNV Germline	Chr20:58438961	Conflicting classifications of pathogenicity	Adult-onset proximal spinal muscular atrophy, autosomal dominant Amyotrophic lateral sclerosis type 8 Amyotrophic lateral sclerosis type 8 Adult-onset proximal spinal muscular atrophy, autosomal dominant Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9924233	rs_777316448	3 SubmittersRCV000312731 RCV000348929 RCV002254546 RCV002323548
NM_004738.5(VAPB):c.574-4G>A	SNV Germline	Chr20:58444073	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 8 Adult-onset proximal spinal muscular atrophy, autosomal dominant Condition: not provided Amyotrophic lateral sclerosis type 8 Adult-onset proximal spinal muscular atrophy, autosomal dominant Inborn genetic diseases VAPB-related disorder	Criteria Provided Conflicting Classifications	CA9924308	rs_201798741	5 SubmittersRCV000299440 RCV000356646 RCV001564242 RCV002254548 RCV002348093 RCV003922478
NM_000454.5(SOD1):c.66G>A (p.Glu22=)	SNV Germline	Chr21:31659835	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 1	Criteria Provided Conflicting Classifications	CA9998860	rs_756458346	2 SubmittersRCV000387182
NM_006415.4(SPTLC1):c.992C>A (p.Ser331Tyr)	SNV Germline	Chr9:92047261	Pathogenic	Condition: not provided Charcot-Marie-Tooth disease Hereditary sensory and autonomic neuropathy type 1 Neuropathy, hereditary sensory and autonomic, type IA, severe Amyotrophic lateral sclerosis 27, juvenile	Criteria Provided Multiple Submitters No Conflicts	CA16042656	rs_267607087	4 SubmittersRCV000414705 RCV000790228 RCV000795948 RCV001249813 RCV003152600
NM_025137.4(SPG11):c.5381T>C (p.Leu1794Pro)	SNV Germline	Chr15:44584299	Conflicting classifications of pathogenicity	Difficulty walking Generalized hyperreflexia Spastic paraparesis Gait disturbance Hereditary spastic paraplegia 11 Condition: not provided Hereditary spastic paraplegia Amyotrophic lateral sclerosis Inborn genetic diseases Charcot-Marie-Tooth disease axonal type 2X Hereditary spastic paraplegia 11 Juvenile amyotrophic lateral sclerosis	Criteria Provided Conflicting Classifications	CA7534422	rs_201689565	17 SubmittersRCV000414944 RCV000801301 RCV001268887 RCV001848737 RCV003105892 RCV003168606 RCV003483611
NM_020919.4(ALS2):c.3415C>T (p.Arg1139Ter)	SNV Germline	Chr2:201724392	Pathogenic/Likely pathogenic	Condition: not provided Amyotrophic lateral sclerosis type 2, juvenile Inborn genetic diseases Infantile-onset ascending hereditary spastic paralysis Amyotrophic lateral sclerosis type 2, juvenile Juvenile primary lateral sclerosis Infantile-onset ascending hereditary spastic paralysis	Criteria Provided Multiple Submitters No Conflicts	CA2057886	rs_767350733	5 SubmittersRCV000421128 RCV000735438 RCV000624087 RCV001851103 RCV002481351
NM_014845.6(FIG4):c.446+9G>A	SNV Germline	Chr6:109727274	Conflicting classifications of pathogenicity	not specified Condition: not provided Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease type 4J Amyotrophic lateral sclerosis type 11 Charcot-Marie-Tooth disease	Criteria Provided Conflicting Classifications	CA3955766	rs_190287033	9 SubmittersRCV000418496 RCV000710135 RCV001086795 RCV001153952 RCV001153953 RCV001173266
NM_003900.5(SQSTM1):c.756C>T (p.Gly252=)	SNV Germline	Chr5:179833033	Conflicting classifications of pathogenicity	not specified Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 Paget disease of bone 2, early-onset	Criteria Provided Conflicting Classifications	CA16604940	rs_769297000	2 SubmittersRCV000444659 RCV001055830
NM_014845.6(FIG4):c.33G>C (p.Ser11=)	SNV Germline	Chr6:109691468	Conflicting classifications of pathogenicity	not specified Charcot-Marie-Tooth disease type 4J Amyotrophic lateral sclerosis type 11 Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 4 Inborn genetic diseases FIG4-related disorder	Criteria Provided Conflicting Classifications	CA3955640	rs_527523781	6 SubmittersRCV000433196 RCV001158140 RCV001158141 RCV001173276 RCV001418759 RCV002451035 RCV003970216
NM_015046.7(SETX):c.23C>T (p.Thr8Met)	SNV Germline	Chr9:132349406	Conflicting classifications of pathogenicity	Condition: not provided Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	Criteria Provided Conflicting Classifications	CA16605391	rs_1057520367	2 SubmittersRCV000440159 RCV001861495
NM_025137.4(SPG11):c.7155T>G (p.Tyr2385Ter)	SNV Germline	Chr15:44563298	Pathogenic/Likely pathogenic	Condition: not provided Hereditary spastic paraplegia 11 Amyotrophic lateral sclerosis type 5	Criteria Provided Multiple Submitters No Conflicts	CA16607073	rs_778305085	4 SubmittersRCV000441784 RCV000528304 RCV001095472
NM_020919.4(ALS2):c.3741T>G (p.Gly1247=)	SNV Germline	Chr2:201718172	Conflicting classifications of pathogenicity	Infantile-onset ascending hereditary spastic paralysis ALS2-related disorder Amyotrophic lateral sclerosis type 2, juvenile Condition: not provided Hereditary spastic paraplegia not specified	Criteria Provided Conflicting Classifications	CA2057766	rs_3219166	9 SubmittersRCV000473535 RCV001143531 RCV001143532 RCV001531945 RCV001848840 RCV001662448
NM_014845.6(FIG4):c.834A>T (p.Lys278Asn)	SNV Germline	Chr6:109741502	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 4 Amyotrophic lateral sclerosis type 11 Yunis-Varon syndrome Bilateral parasagittal parieto-occipital polymicrogyria Charcot-Marie-Tooth disease type 4J Condition: not provided not specified Inborn genetic diseases FIG4-related disorder	Criteria Provided Conflicting Classifications	CA3955919	rs_138048706	11 SubmittersRCV000462434 RCV000662127 RCV000662128 RCV000662129 RCV000662126 RCV001573278 RCV001662424 RCV002411445 RCV003970280
NM_004984.4(KIF5A):c.2146C>T (p.Arg716Trp)	SNV Germline	Chr12:57576326	Conflicting classifications of pathogenicity	Spastic paraplegia Amyotrophic lateral sclerosis	Criteria Provided Conflicting Classifications	CA6653017	rs_377539747	2 SubmittersRCV000471143 RCV001843522
NM_025137.4(SPG11):c.5121G>T (p.Glu1707Asp)	SNV Germline	Chr15:44585636	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 11 Condition: not provided Intellectual disability Amyotrophic lateral sclerosis type 5 Inborn genetic diseases Charcot-Marie-Tooth disease axonal type 2X Charcot-Marie-Tooth disease axonal type 2X Amyotrophic lateral sclerosis type 5 Hereditary spastic paraplegia 11 not specified	Criteria Provided Conflicting Classifications	CA7534494	rs_145643238	15 SubmittersRCV000456956 RCV000658710 RCV001252107 RCV002467808 RCV002339138 RCV002467809 RCV003483617 RCV003488606
NM_025137.4(SPG11):c.2656T>C (p.Tyr886His)	SNV Germline	Chr15:44620368	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 11 not specified Amyotrophic lateral sclerosis Condition: not provided Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA7535167	rs_139687202	10 SubmittersRCV000475662 RCV000518728 RCV001260217 RCV001563519 RCV001848826
NM_025137.4(SPG11):c.3320G>C (p.Cys1107Ser)	SNV Germline	Chr15:44608577	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 11 Inborn genetic diseases not specified Amyotrophic lateral sclerosis type 5 Charcot-Marie-Tooth disease axonal type 2X Hereditary spastic paraplegia 11	Criteria Provided Conflicting Classifications	CA7534998	rs_201271196	4 SubmittersRCV000472310 RCV002323697 RCV003155188 RCV002496754
NM_025137.4(SPG11):c.3425C>G (p.Ser1142Cys)	SNV Germline	Chr15:44608472	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 11 Amyotrophic lateral sclerosis type 5 Hereditary spastic paraplegia 11 Charcot-Marie-Tooth disease axonal type 2X Amyotrophic lateral sclerosis Condition: not provided Hereditary spastic paraplegia Charcot-Marie-Tooth disease axonal type 2X Amyotrophic lateral sclerosis type 5 SPG11-related disorder	Criteria Provided Conflicting Classifications	CA7534986	rs_201082396	9 SubmittersRCV000462305 RCV000765212 RCV001260216 RCV001508758 RCV001848803 RCV002467815 RCV002467814 RCV003401464
NM_004082.5(DCTN1):c.3010C>G (p.Leu1004Val)	SNV Germline	Chr2:74365534	Conflicting classifications of pathogenicity	Condition: not provided Amyotrophic lateral sclerosis type 1 Perry syndrome Neuronopathy, distal hereditary motor, type 7B Inborn genetic diseases DCTN1-related disorder	Criteria Provided Conflicting Classifications	CA1721654	rs_758387062	4 SubmittersRCV000479029 RCV001463517 RCV002438188 RCV003900024
NM_014845.6(FIG4):c.737G>A (p.Trp246Ter)	SNV Germline	Chr6:109738415	Pathogenic	Condition: not provided Amyotrophic lateral sclerosis type 11 Yunis-Varon syndrome Bilateral parasagittal parieto-occipital polymicrogyria Charcot-Marie-Tooth disease type 4J Charcot-Marie-Tooth disease type 4 Inborn genetic diseases FIG4-related disorder Charcot-Marie-Tooth disease type 4J	Criteria Provided Multiple Submitters No Conflicts	CA16618230	rs_776005417	7 SubmittersRCV000478168 RCV000763552 RCV001232367 RCV002525832 RCV003419795 RCV003447141
NM_015046.7(SETX):c.3826C>G (p.Gln1276Glu)	SNV Germline	Chr9:132327772	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Condition: not provided Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Inborn genetic diseases SETX-related disorder	Criteria Provided Conflicting Classifications	CA5297318	rs_148604312	8 SubmittersRCV000515884 RCV000560688 RCV000859602 RCV001169792 RCV001169791 RCV002356794 RCV004541530
NM_015046.7(SETX):c.3229G>A (p.Asp1077Asn)	SNV Germline	Chr9:132328369	Conflicting classifications of pathogenicity	Condition: not provided Hereditary spastic paraplegia Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4 not specified Inborn genetic diseases Amyotrophic lateral sclerosis SETX-related disorder	Criteria Provided Conflicting Classifications	CA5297445	rs_145097270	10 SubmittersRCV000517650 RCV000515959 RCV001082564 RCV001167391 RCV001168005 RCV001283502 RCV002446949 RCV003105922 RCV004535538
NM_020919.4(ALS2):c.3158G>A (p.Trp1053Ter)	SNV Germline	Chr2:201726688	Pathogenic/Likely pathogenic	Condition: not provided Infantile-onset ascending hereditary spastic paralysis Amyotrophic lateral sclerosis type 2, juvenile Infantile-onset ascending hereditary spastic paralysis Juvenile primary lateral sclerosis Tip-toe gait	Criteria Provided Multiple Submitters No Conflicts	CA16621787	rs_1064797281	4 SubmittersRCV000488207 RCV003611516 RCV002512105 RCV003318583
NM_004960.4(FUS):c.1550A>G (p.His517Arg)	SNV Germline	Chr16:31191407	Conflicting classifications of pathogenicity	Condition: not provided Amyotrophic lateral sclerosis type 6 Tremor, hereditary essential, 4	Criteria Provided Conflicting Classifications	CA395677337	rs_1085308015	2 SubmittersRCV000489101 RCV002526045
NM_007126.5(VCP):c.383G>C (p.Gly128Ala)	SNV Germline	Chr9:35066737	Conflicting classifications of pathogenicity	Condition: not provided Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	Criteria Provided Conflicting Classifications	CA373291969	rs_1554668979	2 SubmittersRCV000498690 RCV003766796
NM_015046.7(SETX):c.3010A>G (p.Asn1004Asp)	SNV Germline	Chr9:132328588	Conflicting classifications of pathogenicity	not specified Condition: not provided Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4 Inborn genetic diseases SETX-related disorder	Criteria Provided Conflicting Classifications	CA5297500	rs_77984885	6 SubmittersRCV000507293 RCV000552319 RCV001089104 RCV002438234 RCV004541589
NM_007375.4(TARDBP):c.87C>T (p.Ser29=)	SNV Germline	Chr1:11013814	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Amyotrophic lateral sclerosis type 10 TARDBP-related frontotemporal dementia	Criteria Provided Conflicting Classifications	CA586308	rs_201693535	4 SubmittersRCV000513594 RCV002448554 RCV002524956
NM_004960.4(FUS):c.1080C>T (p.Ser360=)	SNV Germline	Chr16:31190053	Conflicting classifications of pathogenicity	Condition: not provided Tremor, hereditary essential, 4 Amyotrophic lateral sclerosis type 6 Amyotrophic lateral sclerosis type 6 Inborn genetic diseases FUS-related disorder	Criteria Provided Conflicting Classifications	CA8023935	rs_190724342	5 SubmittersRCV000512789 RCV001078775 RCV001117054 RCV002420293 RCV003902815
NM_015046.7(SETX):c.5322G>T (p.Gln1774His)	SNV Germline	Chr9:132311809	Conflicting classifications of pathogenicity	Condition: not provided Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4	Criteria Provided Conflicting Classifications	CA5297016	rs_771691157	2 SubmittersRCV000512696 RCV002527420
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	not specified Condition: not provided Perry syndrome Neuronopathy, distal hereditary motor, type 7B Amyotrophic lateral sclerosis type 1 DCTN1-related disorder	Criteria Provided Conflicting Classifications	CA1722318	rs_72466489	5 SubmittersRCV000516655 RCV000585130 RCV001088199 RCV003942686
NM_004082.5(DCTN1):c.442C>T (p.Arg148Trp)	SNV Germline	Chr2:74372939	Conflicting classifications of pathogenicity	Condition: not provided Perry syndrome Amyotrophic lateral sclerosis type 1 Neuronopathy, distal hereditary motor, type 7B Neuronopathy, distal hereditary motor, type 7B	Criteria Provided Conflicting Classifications	CA1722418	rs_148810193	4 SubmittersRCV000517517 RCV000644478 RCV001329176
NM_004082.5(DCTN1):c.279+1G>C	SNV Germline	Chr2:74377999	Conflicting classifications of pathogenicity	Condition: not provided Perry syndrome Amyotrophic lateral sclerosis type 1 Neuronopathy, distal hereditary motor, type 7B Amyotrophic lateral sclerosis	Criteria Provided Conflicting Classifications	CA347321489	rs_1393363759	3 SubmittersRCV000516456 RCV001232579 RCV003993994
NM_004082.5(DCTN1):c.40A>G (p.Ser14Gly)	SNV Germline	Chr2:74378239	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	CA1722618	rs_758320436	4 SubmittersRCV000516591 RCV000529783 RCV003935364 RCV004023504
NM_003900.5(SQSTM1):c.996A>G (p.Ser332=)	SNV Germline	Chr5:179833613	Conflicting classifications of pathogenicity	not specified Paget disease of bone 2, early-onset Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 Paget disease of bone 2, early-onset Paget disease of bone 3	Criteria Provided Conflicting Classifications	CA3600778	rs_141436407	5 SubmittersRCV000518450 RCV000625254 RCV000872567 RCV001157195
NM_003900.5(SQSTM1):c.1108T>C (p.Ser370Pro)	SNV Germline	Chr5:179833725	Conflicting classifications of pathogenicity	not specified Paget disease of bone 2, early-onset Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 Paget disease of bone 3 Condition: not provided SQSTM1-related disorder	Criteria Provided Conflicting Classifications	CA3600800	rs_143956614	6 SubmittersRCV000518391 RCV000873769 RCV001157196 RCV001579517 RCV004541623
NM_015046.7(SETX):c.7738G>A (p.Val2580Ile)	SNV Germline	Chr9:132264535	Conflicting classifications of pathogenicity	not specified Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Inborn genetic diseases Amyotrophic lateral sclerosis type 4	Criteria Provided Conflicting Classifications	CA5296340	rs_370366576	3 SubmittersRCV000518348 RCV003233696 RCV002404331 RCV003233697
NM_015046.7(SETX):c.7490G>A (p.Ser2497Asn)	SNV Germline	Chr9:132264783	Conflicting classifications of pathogenicity	not specified Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4 Condition: not provided Inborn genetic diseases SETX-related disorder	Criteria Provided Conflicting Classifications	CA5296378	rs_61735488	6 SubmittersRCV000516539 RCV000531955 RCV001509372 RCV002395238 RCV004541622
NM_015046.7(SETX):c.7432A>G (p.Thr2478Ala)	SNV Germline	Chr9:132264841	Conflicting classifications of pathogenicity	not specified Inborn genetic diseases Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4 Condition: not provided Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 SETX-related disorder	Criteria Provided Conflicting Classifications	CA5296390	rs_142303658	9 SubmittersRCV000518280 RCV000624322 RCV000764810 RCV001702669 RCV001731743 RCV004541621
NM_015046.7(SETX):c.7139G>A (p.Arg2380Gln)	SNV Germline	Chr9:132271770	Conflicting classifications of pathogenicity	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4 Condition: not provided not specified Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4 SETX-related disorder	Criteria Provided Conflicting Classifications	CA5296494	rs_145397619	7 SubmittersRCV000524648 RCV000518213 RCV001814998 RCV003233692 RCV003233693 RCV004541620
NM_015046.7(SETX):c.5998C>G (p.Gln2000Glu)	SNV Germline	Chr9:132295980	Conflicting classifications of pathogenicity	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4 Inborn genetic diseases Condition: not provided SETX-related disorder	Criteria Provided Conflicting Classifications	CA5296854	rs_142917412	4 SubmittersRCV000644817 RCV002358400 RCV002473039 RCV004541618
NM_015046.7(SETX):c.5804A>G (p.Asn1935Ser)	SNV Germline	Chr9:132297032	Conflicting classifications of pathogenicity	not specified Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	Criteria Provided Conflicting Classifications	CA5296892	rs_762791927	2 SubmittersRCV000518592 RCV002525079
NM_015046.7(SETX):c.4865C>T (p.Pro1622Leu)	SNV Germline	Chr9:132326733	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Condition: not provided not specified Inborn genetic diseases Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4	Criteria Provided Conflicting Classifications	CA5297121	rs_140781535	8 SubmittersRCV000764811 RCV001579382 RCV000518382 RCV002341213 RCV003233685 RCV003233686
NM_015046.7(SETX):c.4433C>A (p.Ala1478Glu)	SNV Germline	Chr9:132327165	Conflicting classifications of pathogenicity	Condition: not provided Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4 Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 not specified Hereditary spastic paraplegia Inborn genetic diseases SETX-related disorder	Criteria Provided Conflicting Classifications	CA5297202	rs_143661911	10 SubmittersRCV000518326 RCV000550269 RCV001165737 RCV001167321 RCV001644615 RCV001848902 RCV002329225 RCV004537862
NM_015046.7(SETX):c.4120A>G (p.Lys1374Glu)	SNV Germline	Chr9:132327478	Conflicting classifications of pathogenicity	not specified Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	Criteria Provided Conflicting Classifications	CA5297266	rs_756823072	2 SubmittersRCV000516516 RCV002527524
NM_015046.7(SETX):c.3028C>T (p.Arg1010Cys)	SNV Germline	Chr9:132328570	Conflicting classifications of pathogenicity	not specified Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4 Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 SETX-related disorder	Criteria Provided Conflicting Classifications	CA5297495	rs_766799023	4 SubmittersRCV000516603 RCV001851461 RCV003233678 RCV003233677 RCV004537860
NM_015046.7(SETX):c.3016G>A (p.Gly1006Arg)	SNV Germline	Chr9:132328582	Conflicting classifications of pathogenicity	not specified Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5297499	rs_141266068	7 SubmittersRCV000517441 RCV000644833 RCV001311797 RCV002438247
NM_015046.7(SETX):c.2862G>A (p.Thr954=)	SNV Germline	Chr9:132328736	Conflicting classifications of pathogenicity	not specified Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5297523	rs_149610510	4 SubmittersRCV000518240 RCV001857928 RCV003431058 RCV002438246
NM_015046.7(SETX):c.2842C>A (p.Pro948Thr)	SNV Germline	Chr9:132328756	Conflicting classifications of pathogenicity	not specified Condition: not provided Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4	Criteria Provided Conflicting Classifications	CA375333570	rs_778882347	4 SubmittersRCV000517506 RCV001755772 RCV003766933 RCV003233673 RCV003233674
NM_015046.7(SETX):c.2395C>T (p.His799Tyr)	SNV Germline	Chr9:132329203	Conflicting classifications of pathogenicity	not specified Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5297604	rs_200459144	3 SubmittersRCV000517993 RCV000551603 RCV002448560
NM_015046.7(SETX):c.1690T>G (p.Leu564Val)	SNV Germline	Chr9:132329908	Conflicting classifications of pathogenicity	not specified Inborn genetic diseases Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	Criteria Provided Conflicting Classifications	CA5297732	rs_761877146	3 SubmittersRCV000518116 RCV002413399 RCV000695046
NM_015046.7(SETX):c.1392A>G (p.Ser464=)	SNV Germline	Chr9:132330206	Conflicting classifications of pathogenicity	not specified Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Hereditary spastic paraplegia Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5297784	rs_144164119	4 SubmittersRCV000517536 RCV001463467 RCV001848899 RCV002395236
NM_015046.7(SETX):c.806C>T (p.Ser269Leu)	SNV Germline	Chr9:132334640	Conflicting classifications of pathogenicity	not specified Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Condition: not provided Inborn genetic diseases Amyotrophic lateral sclerosis type 4	Criteria Provided Conflicting Classifications	CA5297936	rs_757988188	6 SubmittersRCV000517524 RCV001168905 RCV001039811 RCV002223857 RCV002420301 RCV001168904
NM_015046.7(SETX):c.654G>C (p.Lys218Asn)	SNV Germline	Chr9:132336360	Conflicting classifications of pathogenicity	not specified Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4 Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Condition: not provided Hereditary spastic paraplegia Inborn genetic diseases SETX-related disorder	Criteria Provided Conflicting Classifications	CA5297991	rs_117861188	11 SubmittersRCV000516905 RCV000535102 RCV001166018 RCV001166019 RCV001311799 RCV001848903 RCV002367720 RCV004541619
NM_015046.7(SETX):c.172C>T (p.His58Tyr)	SNV Germline	Chr9:132349257	Conflicting classifications of pathogenicity	not specified Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA200838114	rs_757760067	3 SubmittersRCV000516965 RCV001049138 RCV002404330
NM_025137.4(SPG11):c.1763A>G (p.Asp588Gly)	SNV Germline	Chr15:44629361	Conflicting classifications of pathogenicity	not specified Hereditary spastic paraplegia 11 Amyotrophic lateral sclerosis type 5 Charcot-Marie-Tooth disease axonal type 2X	Criteria Provided Conflicting Classifications	CA7535442	rs_763060505	3 SubmittersRCV000517770 RCV001851462 RCV002467849 RCV002467850
NM_004738.5(VAPB):c.551G>A (p.Arg184Gln)	SNV Germline	Chr20:58441061	Conflicting classifications of pathogenicity	not specified Amyotrophic lateral sclerosis type 8 Adult-onset proximal spinal muscular atrophy, autosomal dominant Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9924281	rs_145483046	3 SubmittersRCV000518325 RCV002254550 RCV002350144
NM_004738.5(VAPB):c.667C>T (p.Arg223Trp)	SNV Germline	Chr20:58444170	Conflicting classifications of pathogenicity	not specified Adult-onset proximal spinal muscular atrophy, autosomal dominant Amyotrophic lateral sclerosis type 8 Amyotrophic lateral sclerosis type 8 Adult-onset proximal spinal muscular atrophy, autosomal dominant Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9924325	rs_144718603	4 SubmittersRCV000516581 RCV001143189 RCV001143188 RCV002254551 RCV002367723
NM_004082.5(DCTN1):c.673C>T (p.Arg225Trp)	SNV Germline	Chr2:74371149	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 1 Perry syndrome Neuronopathy, distal hereditary motor, type 7B Condition: not provided Perry syndrome Neuronopathy, distal hereditary motor, type 7B Parkinsonian disorder Inborn genetic diseases DCTN1-related disorder	Criteria Provided Conflicting Classifications	CA1722338	rs_371723224	7 SubmittersRCV000644472 RCV000756010 RCV001137904 RCV001137903 RCV002272277 RCV002527653 RCV003900094
NM_015046.7(SETX):c.3029G>A (p.Arg1010His)	SNV Germline	Chr9:132328569	Conflicting classifications of pathogenicity	Condition: not provided Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 not specified Inborn genetic diseases SETX-related disorder	Criteria Provided Conflicting Classifications	CA5297494	rs_370781594	5 SubmittersRCV000521273 RCV001306845 RCV001662531 RCV002438262 RCV004541636
NM_007126.5(VCP):c.278G>A (p.Arg93His)	SNV Germline	Chr9:35067915	Likely pathogenic	Condition: not provided Inclusion body myopathy with Paget disease of bone and frontotemporal dementia Frontotemporal dementia and/or amyotrophic lateral sclerosis 6	Criteria Provided Multiple Submitters No Conflicts	CA5039527	rs_779959657	2 SubmittersRCV000520021 RCV002231635
NM_006415.4(SPTLC1):c.68A>T (p.Tyr23Phe)	SNV Germline	Chr9:92112552	Likely pathogenic	Condition: not provided Neuropathy, hereditary sensory and autonomic, type 1A Amyotrophic lateral sclerosis 27, juvenile	Criteria Provided Multiple Submitters No Conflicts	CA373795895	rs_1554716504	3 SubmittersRCV000522579 RCV001267702 RCV003152607
NM_020919.4(ALS2):c.1641G>A (p.Arg547=)	SNV Germline	Chr2:201753242	Conflicting classifications of pathogenicity	Infantile-onset ascending hereditary spastic paralysis Amyotrophic lateral sclerosis type 2, juvenile ALS2-related disorder Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2058394	rs_34122078	6 SubmittersRCV000557506 RCV001141937 RCV001141938 RCV001553526 RCV003243183
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_015046.7(SETX):c.4436C>T (p.Ala1479Val)	SNV Germline	Chr9:132327162	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA5297200	rs_761119964	3 SubmittersRCV000525003 RCV003243185 RCV003482284
NM_015046.7(SETX):c.4197A>G (p.Thr1399=)	SNV Germline	Chr9:132327401	Conflicting classifications of pathogenicity	Condition: not provided Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Inborn genetic diseases not specified	Criteria Provided Conflicting Classifications	CA5297250	rs_148078248	8 SubmittersRCV000542207 RCV001085153 RCV001167323 RCV001167324 RCV002330911 RCV003403306
NM_015046.7(SETX):c.4096T>C (p.Ser1366Pro)	SNV Germline	Chr9:132327502	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Condition: not provided Inborn genetic diseases SETX-related disorder	Criteria Provided Conflicting Classifications	CA5297271	rs_140147684	10 SubmittersRCV000549234 RCV001167927 RCV001167928 RCV001288399 RCV002323994 RCV004541717
NM_015046.7(SETX):c.2717C>T (p.Ser906Leu)	SNV Germline	Chr9:132328881	Conflicting classifications of pathogenicity	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4 Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5297546	rs_148375192	3 SubmittersRCV000552679 RCV001165886 RCV001165887 RCV002431641
NM_015046.7(SETX):c.93A>G (p.Gln31=)	SNV Germline	Chr9:132349336	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Inborn genetic diseases SETX-related disorder	Criteria Provided Conflicting Classifications	CA5298133	rs_201795631	3 SubmittersRCV000557520 RCV002377107 RCV004527650
NM_015046.7(SETX):c.2479A>G (p.Lys827Glu)	SNV Germline	Chr9:132329119	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Condition: not provided not specified Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4 Hereditary spastic paraplegia See cases Inborn genetic diseases SETX-related disorder	Criteria Provided Conflicting Classifications	CA5297587	rs_150532677	14 SubmittersRCV000540061 RCV000762582 RCV001000648 RCV001167461 RCV001167462 RCV001848950 RCV002252164 RCV002456164 RCV004538008
NM_015046.7(SETX):c.7100+9T>C	SNV Germline	Chr9:132275247	Conflicting classifications of pathogenicity	Condition: not provided Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Hereditary spastic paraplegia SETX-related disorder	Criteria Provided Conflicting Classifications	CA5296516	rs_200088320	5 SubmittersRCV000713230 RCV001087251 RCV001165603 RCV001165604 RCV001848955 RCV004541718
NM_015046.7(SETX):c.4982C>G (p.Pro1661Arg)	SNV Germline	Chr9:132326616	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Condition: not provided not specified Hereditary spastic paraplegia Inborn genetic diseases SETX-related disorder	Criteria Provided Conflicting Classifications	CA5297098	rs_146873848	11 SubmittersRCV000558440 RCV000859806 RCV001644653 RCV001848953 RCV002341378 RCV004538011
NM_015046.7(SETX):c.2282C>T (p.Ser761Leu)	SNV Germline	Chr9:132329316	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Inborn genetic diseases Condition: not provided SETX-related disorder	Criteria Provided Conflicting Classifications	CA5297629	rs_200153024	4 SubmittersRCV000526691 RCV002448727 RCV003480678 RCV004541714
NM_015046.7(SETX):c.768G>T (p.Leu256=)	SNV Germline	Chr9:132334678	Conflicting classifications of pathogenicity	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4 Inborn genetic diseases Amyotrophic lateral sclerosis type 4	Criteria Provided Conflicting Classifications	CA5297945	rs_759468738	3 SubmittersRCV001168906 RCV000536421 RCV002404485 RCV001168907
NM_015046.7(SETX):c.192A>G (p.Leu64=)	SNV Germline	Chr9:132346457	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 not specified Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Condition: not provided Hereditary spastic paraplegia Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5298104	rs_117326462	8 SubmittersRCV000556642 RCV001287950 RCV001167591 RCV001167592 RCV001558290 RCV001848949 RCV002413561
NM_015046.7(SETX):c.2446A>G (p.Thr816Ala)	SNV Germline	Chr9:132329152	Conflicting classifications of pathogenicity	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5297590	rs_369470593	2 SubmittersRCV000527749 RCV002456163
NM_015046.7(SETX):c.2005A>T (p.Asn669Tyr)	SNV Germline	Chr9:132329593	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5297680	rs_143727702	3 SubmittersRCV000537094 RCV000992930 RCV002420466
NM_007126.5(VCP):c.426G>A (p.Ala142=)	SNV Germline	Chr9:35066694	Conflicting classifications of pathogenicity	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5039486	rs_577812326	3 SubmittersRCV000525916 RCV000598290 RCV002330872
NM_005866.4(SIGMAR1):c.463G>A (p.Gly155Arg)	SNV Germline	Chr9:34635841	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 16 Autosomal recessive distal spinal muscular atrophy 2 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5035850	rs_200076129	3 SubmittersRCV000543324 RCV001662555 RCV002330884
NM_015046.7(SETX):c.7870G>T (p.Asp2624Tyr)	SNV Germline	Chr9:132264403	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 not specified Inborn genetic diseases Condition: not provided SETX-related disorder	Criteria Provided Conflicting Classifications	CA5296301	rs_141589525	6 SubmittersRCV000537182 RCV001662568 RCV002413562 RCV002461309 RCV004538014
NM_007126.5(VCP):c.1202A>G (p.Asn401Ser)	SNV Germline	Chr9:35061172	Conflicting classifications of pathogenicity	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 Condition: not provided Inborn genetic diseases VCP-related disorder	Criteria Provided Conflicting Classifications	CA5039291	rs_148329626	7 SubmittersRCV000534353 RCV001579523 RCV002350262 RCV004537963
NM_025137.4(SPG11):c.4161+9C>G	SNV Germline	Chr15:44596775	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 11 Hereditary spastic paraplegia Amyotrophic lateral sclerosis type 5 Charcot-Marie-Tooth disease axonal type 2X	Criteria Provided Conflicting Classifications	CA658658292	rs_1555451101	3 SubmittersRCV000544562 RCV001848945 RCV002467866 RCV002467867
NM_025137.4(SPG11):c.5315G>A (p.Arg1772His)	SNV Germline	Chr15:44584365	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 11 Hereditary spastic paraplegia Charcot-Marie-Tooth disease axonal type 2X Amyotrophic lateral sclerosis type 5 Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA7534430	rs_150823040	6 SubmittersRCV000541207 RCV001848946 RCV002467875 RCV002467874 RCV003372748 RCV002509426
NM_025137.4(SPG11):c.4261G>A (p.Asp1421Asn)	SNV Germline	Chr15:44596256	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 11 Amyotrophic lateral sclerosis type 5 Charcot-Marie-Tooth disease axonal type 2X Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7534720	rs_191148548	4 SubmittersRCV000556968 RCV002467868 RCV002467869 RCV002263778 RCV002330887
NM_213720.3(CHCHD10):c.214G>A (p.Ala72Thr)	SNV Germline	Chr22:23767421	Conflicting classifications of pathogenicity	Autosomal dominant mitochondrial myopathy with exercise intolerance Lower motor neuron syndrome with late-adult onset Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10145294	rs_542541060	2 SubmittersRCV000558937 RCV002530220
NM_000454.5(SOD1):c.260A>G (p.Asn87Ser)	SNV Germline	Chr21:31667278	Pathogenic	Amyotrophic lateral sclerosis type 1	Criteria Provided Multiple Submitters No Conflicts	CA319334574	rs_11556620	3 SubmittersRCV000529591
NM_145868.2(ANXA11):c.119A>G (p.Asp40Gly)	SNV Germline	Chr10:80170852	Pathogenic	Amyotrophic lateral sclerosis type 23 Condition: not provided ANXA11-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA377368826	rs_1247392012	3 SubmittersRCV000578138 RCV001853834 RCV003403366
NM_145868.2(ANXA11):c.112G>A (p.Gly38Arg)	SNV Germline	Chr10:80170859	Pathogenic/Likely pathogenic	Amyotrophic lateral sclerosis type 23 Amyotrophic lateral sclerosis Condition: not provided ANXA11-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA5576379	rs_142083484	5 SubmittersRCV000578149 RCV003105971 RCV001860003 RCV003962641
NM_000940.3(PON3):c.94C>T (p.Arg32Ter)	SNV Germline	Chr7:95394695	Conflicting classifications of pathogenicity	not specified Condition: not provided Amyotrophic lateral sclerosis	Criteria Provided Conflicting Classifications	CA4350806	rs_147006695	4 SubmittersRCV000579077 RCV000766322 RCV001095523
NM_015046.7(SETX):c.5949+5G>A	SNV Germline	Chr9:132296882	Conflicting classifications of pathogenicity	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4 Condition: not provided Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4 Hereditary spastic paraplegia not specified Inborn genetic diseases SETX-related disorder	Criteria Provided Conflicting Classifications	CA5296870	rs_374656811	9 SubmittersRCV000644836 RCV000713224 RCV001169651 RCV001165667 RCV001848978 RCV001706679 RCV002358638 RCV004530626
NM_001008212.2(OPTN):c.127C>T (p.Gln43Ter)	SNV Germline	Chr10:13109249	Conflicting classifications of pathogenicity	Condition: not provided OPTN-related disorder Glaucoma 1, open angle, E Primary open angle glaucoma Amyotrophic lateral sclerosis type 12	Criteria Provided Conflicting Classifications	CA203254276	rs_934287314	3 SubmittersRCV000578674 RCV000778273 RCV001860012
NM_025137.4(SPG11):c.1085G>A (p.Trp362Ter)	SNV Germline	Chr15:44651862	Pathogenic	Condition: not provided Amyotrophic lateral sclerosis type 5 Hereditary spastic paraplegia 11 Charcot-Marie-Tooth disease axonal type 2X Hereditary spastic paraplegia 11 Hereditary spastic paraplegia Charcot-Marie-Tooth disease axonal type 2X Amyotrophic lateral sclerosis type 5	Criteria Provided Multiple Submitters No Conflicts	CA7535624	rs_140385286	7 SubmittersRCV000578726 RCV000763352 RCV000642546 RCV001848979 RCV002467902 RCV002467901
NM_004960.4(FUS):c.*48G>A	SNV Germline	Chr16:31191486	Conflicting classifications of pathogenicity	Condition: not provided Tremor, hereditary essential, 4 Amyotrophic lateral sclerosis type 6 FUS-related disorder	Criteria Provided Conflicting Classifications	CA8024132	rs_376510148	3 SubmittersRCV000585045 RCV001087410 RCV003403375
NM_015046.7(SETX):c.7417C>G (p.Leu2473Val)	SNV Germline	Chr9:132264856	Conflicting classifications of pathogenicity	Condition: not provided Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4 SETX-related disorder	Criteria Provided Conflicting Classifications	CA5296396	rs_760196991	6 SubmittersRCV000585562 RCV001860112 RCV003233754 RCV003233755 RCV004530633
NM_015046.7(SETX):c.4A>G (p.Ser2Gly)	SNV Germline	Chr9:132349425	Conflicting classifications of pathogenicity	Condition: not provided Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4 Inborn genetic diseases SETX-related disorder	Criteria Provided Conflicting Classifications	CA5298157	rs_149808180	4 SubmittersRCV000585415 RCV001860113 RCV002341496 RCV004530634
NM_001199397.3(NEK1):c.1648C>T (p.Arg550Ter)	SNV Germline	Chr4:169537826	Pathogenic	Amyotrophic lateral sclerosis, susceptibility to, 24 Short-rib thoracic dysplasia 6 with or without polydactyly	Criteria Provided Single Submitter	CA3137680	rs_371575563	2 SubmittersRCV000585741 RCV001380778
NM_007126.5(VCP):c.1896C>A (p.Ala632=)	SNV Germline	Chr9:35059601	Conflicting classifications of pathogenicity	Condition: not provided Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia Inborn genetic diseases VCP-related disorder	Criteria Provided Conflicting Classifications	CA5039169	rs_141275388	4 SubmittersRCV000598527 RCV001403231 RCV002413682 RCV004530715
NM_004984.4(KIF5A):c.2993-3C>T	SNV Germline	Chr12:57582599	Pathogenic	Amyotrophic lateral sclerosis, susceptibility to, 25 Spastic paraplegia	Criteria Provided Single Submitter	CA605315756	rs_1402429085	2 SubmittersRCV000598707 RCV003750808
NM_004984.4(KIF5A):c.3020+1G>A	SNV Germline	Chr12:57582630	Pathogenic	Amyotrophic lateral sclerosis, susceptibility to, 25 Spastic paraplegia	Criteria Provided Single Submitter	CA385517122	rs_1555179091	2 SubmittersRCV000599583 RCV001854130
NM_004984.4(KIF5A):c.3019A>G (p.Arg1007Gly)	SNV Germline	Chr12:57582628	Likely pathogenic	Amyotrophic lateral sclerosis, susceptibility to, 25 Condition: not provided Spastic paraplegia	Criteria Provided Multiple Submitters No Conflicts	CA385517105	rs_1555179087	3 SubmittersRCV000598752 RCV003311856 RCV002531121
NM_013254.4(TBK1):c.1792A>G (p.Met598Val)	SNV Germline	Chr12:64496980	Conflicting classifications of pathogenicity	not specified Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	Criteria Provided Conflicting Classifications	CA238276382	rs_899858451	2 SubmittersRCV000614658 RCV000687975
NM_000454.5(SOD1):c.59A>G (p.Asn20Ser)	SNV Germline	Chr21:31659828	Conflicting classifications of pathogenicity	not specified Amyotrophic lateral sclerosis type 1	Criteria Provided Conflicting Classifications	CA9998859	rs_768029813	2 SubmittersRCV000611073 RCV000689563
NM_020919.4(ALS2):c.1233T>G (p.Tyr411Ter)	SNV Germline	Chr2:201757640	Pathogenic	Infantile-onset ascending hereditary spastic paralysis Infantile-onset ascending hereditary spastic paralysis Juvenile primary lateral sclerosis Amyotrophic lateral sclerosis type 2, juvenile	Criteria Provided Multiple Submitters No Conflicts	CA350326975	rs_369577952	2 SubmittersRCV000640988 RCV000763471
NM_020919.4(ALS2):c.3046C>G (p.Pro1016Ala)	SNV Germline	Chr2:201726800	Conflicting classifications of pathogenicity	Infantile-onset ascending hereditary spastic paralysis ALS2-related disorder Amyotrophic lateral sclerosis type 2, juvenile Condition: not provided	Criteria Provided Conflicting Classifications	CA2057993	rs_41308840	3 SubmittersRCV000640994 RCV001139218 RCV001139219 RCV001591429
NM_020919.4(ALS2):c.331G>A (p.Val111Ile)	SNV Germline	Chr2:201761663	Conflicting classifications of pathogenicity	Infantile-onset ascending hereditary spastic paralysis ALS2-related disorder Amyotrophic lateral sclerosis type 2, juvenile not specified Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA2058669	rs_61745503	4 SubmittersRCV001089250 RCV001137294 RCV001137295 RCV001644727 RCV001849016
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	Criteria Provided Conflicting Classifications	CA1721440	rs_200834352	4 SubmittersRCV000644479 RCV001027492 RCV002458080 RCV003965364
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_003900.5(SQSTM1):c.372C>T (p.Pro124=)	SNV Germline	Chr5:179823928	Conflicting classifications of pathogenicity	Paget disease of bone 2, early-onset Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 Paget disease of bone 3	Criteria Provided Conflicting Classifications	CA3600490	rs_11548640	2 SubmittersRCV000652545 RCV001157083
NM_014845.6(FIG4):c.640G>A (p.Gly214Arg)	SNV Germline	Chr6:109735292	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 4 Amyotrophic lateral sclerosis type 11 Charcot-Marie-Tooth disease type 4J Inborn genetic diseases Condition: not provided FIG4-related disorder	Criteria Provided Conflicting Classifications	CA3955852	rs_529048339	5 SubmittersRCV000654270 RCV001154805 RCV001154806 RCV002360664 RCV003488768 RCV003918092
NM_015046.7(SETX):c.4979A>G (p.His1660Arg)	SNV Germline	Chr9:132326619	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Hereditary spastic paraplegia Inborn genetic diseases Condition: not provided Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	Criteria Provided Conflicting Classifications	CA5297100	rs_371894414	5 SubmittersRCV000644814 RCV001849022 RCV002334141 RCV002473088 RCV003233772 RCV003233771
NM_015046.7(SETX):c.2755G>C (p.Val919Leu)	SNV Germline	Chr9:132328843	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Condition: not provided Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4 Inborn genetic diseases not specified	Criteria Provided Conflicting Classifications	CA5297536	rs_561190371	7 SubmittersRCV000644837 RCV000992932 RCV001262697 RCV001270092 RCV002440309 RCV003317317
NM_015046.7(SETX):c.2411T>C (p.Leu804Ser)	SNV Germline	Chr9:132329187	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA5297599	rs_201096140	4 SubmittersRCV000644819 RCV002458083 RCV003480733
NM_015046.7(SETX):c.968G>A (p.Ser323Asn)	SNV Germline	Chr9:132331319	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 not specified Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA5297886	rs_372193033	5 SubmittersRCV000644822 RCV001644729 RCV002369707 RCV003424222
NM_007126.5(VCP):c.478G>C (p.Ala160Pro)	SNV Germline	Chr9:35065349	Conflicting classifications of pathogenicity	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 Condition: not provided Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	Criteria Provided Conflicting Classifications	CA373289512	rs_1554668805	4 SubmittersRCV000639654 RCV000993545 RCV001535609
NM_015046.7(SETX):c.2124T>C (p.Ser708=)	SNV Germline	Chr9:132329474	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Hereditary spastic paraplegia Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA5297662	rs_139236924	4 SubmittersRCV000644840 RCV001849023 RCV002422334 RCV003432685
NM_015046.7(SETX):c.208A>G (p.Ile70Val)	SNV Germline	Chr9:132346441	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Inborn genetic diseases SETX-related disorder	Criteria Provided Conflicting Classifications	CA5298101	rs_747469176	3 SubmittersRCV000644809 RCV002422333 RCV004533372
NM_015046.7(SETX):c.7660T>A (p.Phe2554Ile)	SNV Germline	Chr9:132264613	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Inborn genetic diseases Condition: not provided SETX-related disorder	Criteria Provided Conflicting Classifications	CA5296362	rs_368269464	4 SubmittersRCV000644827 RCV002388094 RCV003482289 RCV004533375
NM_015046.7(SETX):c.2404A>G (p.Ser802Gly)	SNV Germline	Chr9:132329194	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 SETX-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA375336078	rs_1400027699	3 SubmittersRCV000644823 RCV004533373 RCV004025671
NM_015046.7(SETX):c.2254A>G (p.Thr752Ala)	SNV Germline	Chr9:132329344	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Condition: not provided Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	Criteria Provided Conflicting Classifications	CA5297637	rs_745938575	3 SubmittersRCV000644812 RCV002473087 RCV003233770 RCV003233769
NM_015046.7(SETX):c.431A>G (p.Asn144Ser)	SNV Germline	Chr9:132342757	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4 not specified Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5298042	rs_767453182	4 SubmittersRCV000644846 RCV001167587 RCV001167588 RCV001288404 RCV004025672
NM_025137.4(SPG11):c.6410G>A (p.Arg2137Gln)	SNV Germline	Chr15:44570592	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 11 Condition: not provided Amyotrophic lateral sclerosis type 5 Charcot-Marie-Tooth disease axonal type 2X Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7534137	rs_200283964	4 SubmittersRCV000642551 RCV001507875 RCV002467954 RCV002467955 RCV003243229
NM_025137.4(SPG11):c.6944A>C (p.Asn2315Thr)	SNV Germline	Chr15:44565909	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 11 Condition: not provided Inborn genetic diseases Charcot-Marie-Tooth disease axonal type 2X Amyotrophic lateral sclerosis type 5	Criteria Provided Conflicting Classifications	CA7533946	rs_200276333	7 SubmittersRCV000642530 RCV001507872 RCV002360574 RCV002467949 RCV002467948
NM_025137.4(SPG11):c.4490A>G (p.Asn1497Ser)	SNV Germline	Chr15:44595404	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 11 Condition: not provided Charcot-Marie-Tooth disease axonal type 2X Amyotrophic lateral sclerosis type 5 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7534658	rs_747973076	4 SubmittersRCV000642552 RCV001508756 RCV002467957 RCV002467956 RCV002530011
NM_000454.5(SOD1):c.443G>A (p.Gly148Asp)	SNV Germline	Chr21:31668556	Pathogenic/Likely pathogenic	Amyotrophic lateral sclerosis type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA410037815	rs_1555836950	2 SubmittersRCV000644456 RCV001289239
NM_213720.3(CHCHD10):c.274G>A (p.Ala92Thr)	SNV Germline	Chr22:23766263	Conflicting classifications of pathogenicity	Lower motor neuron syndrome with late-adult onset Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 Autosomal dominant mitochondrial myopathy with exercise intolerance Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10145271	rs_374353973	2 SubmittersRCV000650707 RCV002440358
NM_015046.7(SETX):c.2502A>G (p.Gly834=)	SNV Germline	Chr9:132329096	Conflicting classifications of pathogenicity	Condition: not provided not specified Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Hereditary spastic paraplegia Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_762818441	7 SubmittersRCV000659130 RCV001287952 RCV001473215 RCV001849033 RCV002424561
NM_015046.7(SETX):c.895C>T (p.Arg299Cys)	SNV Germline	Chr9:132331392	Conflicting classifications of pathogenicity	Distal spinal muscular atrophy Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4	Criteria Provided Conflicting Classifications		rs_777182592	2 SubmittersRCV000664255 RCV001263157 RCV002530626
NM_000454.5(SOD1):c.112G>C (p.Gly38Arg)	SNV Germline	Chr21:31663829	Pathogenic	Amyotrophic lateral sclerosis type 1	Criteria Provided Multiple Submitters No Conflicts		rs_121912431	3 SubmittersRCV000664220
NM_025137.4(SPG11):c.6899T>G (p.Leu2300Arg)	SNV Germline	Chr15:44565954	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 5 Hereditary spastic paraplegia 11 Hereditary spastic paraplegia 11 Amyotrophic lateral sclerosis type 5 Charcot-Marie-Tooth disease axonal type 2X	Criteria Provided Conflicting Classifications		rs_371334506	3 SubmittersRCV000679859 RCV000806086 RCV002467984 RCV002467985
NM_025137.4(SPG11):c.4888G>T (p.Glu1630Ter)	SNV Germline	Chr15:44589270	Pathogenic	Amyotrophic lateral sclerosis type 5 Hereditary spastic paraplegia 11 Hereditary spastic paraplegia 11 Amyotrophic lateral sclerosis type 5	Criteria Provided Multiple Submitters No Conflicts		rs_368276916	3 SubmittersRCV000680108 RCV001855629 RCV002467986
NM_004082.5(DCTN1):c.3557T>C (p.Met1186Thr)	SNV Germline	Chr2:74362702	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 1 Neuronopathy, distal hereditary motor, type 7B Perry syndrome Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_145819459	4 SubmittersRCV000694263 RCV001811448 RCV002458247
NM_004082.5(DCTN1):c.446G>A (p.Arg149Gln)	SNV Germline	Chr2:74372935	Conflicting classifications of pathogenicity	Perry syndrome Amyotrophic lateral sclerosis type 1 Neuronopathy, distal hereditary motor, type 7B Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_149447433	2 SubmittersRCV000685358 RCV002331324
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		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		rs_143914684	5 SubmittersRCV000688124 RCV001558947 RCV002422480 RCV003403590
NM_004082.5(DCTN1):c.2633A>G (p.Tyr878Cys)	SNV Germline	Chr2:74366371	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 Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_778201974	3 SubmittersRCV000689468 RCV001139900 RCV001139901 RCV002458218
NM_004082.5(DCTN1):c.279+1G>T	SNV Germline	Chr2:74377999	Conflicting classifications of pathogenicity	Perry syndrome Amyotrophic lateral sclerosis type 1 Neuronopathy, distal hereditary motor, type 7B Condition: not provided Hereditary motor neuron disease	Criteria Provided Conflicting Classifications		rs_1393363759	4 SubmittersRCV000685402 RCV000991877 RCV001027493
NM_015046.7(SETX):c.4103G>T (p.Cys1368Phe)	SNV Germline	Chr9:132327495	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Condition: not provided SETX-related disorder	Criteria Provided Conflicting Classifications		rs_1445388214	4 SubmittersRCV000689471 RCV002473107 RCV004535715
NM_015046.7(SETX):c.1343A>G (p.Asp448Gly)	SNV Germline	Chr9:132330255	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_370363342	3 SubmittersRCV000695198 RCV000992929 RCV002386213
NM_005866.4(SIGMAR1):c.194T>A (p.Leu65Gln)	SNV Germline	Chr9:34637378	Pathogenic/Likely pathogenic	Autosomal recessive distal spinal muscular atrophy 2 Amyotrophic lateral sclerosis type 16 Amyotrophic lateral sclerosis type 16	Criteria Provided Multiple Submitters No Conflicts		rs_140376902	2 SubmittersRCV000697805 RCV002272335
NM_015046.7(SETX):c.7660T>C (p.Phe2554Leu)	SNV Germline	Chr9:132264613	Conflicting classifications of pathogenicity	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4 Condition: not provided	Criteria Provided Conflicting Classifications		rs_368269464	3 SubmittersRCV000689472 RCV002473108
NM_015046.7(SETX):c.1750C>G (p.Leu584Val)	SNV Germline	Chr9:132329848	Conflicting classifications of pathogenicity	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_764995848	3 SubmittersRCV000705240 RCV001759414 RCV002397476
NM_005866.4(SIGMAR1):c.632G>A (p.Arg211Gln)	SNV Germline	Chr9:34635672	Conflicting classifications of pathogenicity	Autosomal recessive distal spinal muscular atrophy 2 Amyotrophic lateral sclerosis type 16 Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_192644838	2 SubmittersRCV000694694 RCV004025212
NM_007126.5(VCP):c.1194+3G>A	SNV Germline	Chr9:35061574	Conflicting classifications of pathogenicity	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia Condition: not provided Inborn genetic diseases VCP-related disorder	Criteria Provided Conflicting Classifications		rs_183223259	6 SubmittersRCV000685579 RCV000733640 RCV002334250 RCV004535704
NM_015046.7(SETX):c.4369A>G (p.Ile1457Val)	SNV Germline	Chr9:132327229	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Condition: not provided	Criteria Provided Conflicting Classifications		rs_747804357	2 SubmittersRCV000703290 RCV003140115
NM_015046.7(SETX):c.3341T>C (p.Ile1114Thr)	SNV Germline	Chr9:132328257	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_760535401	2 SubmittersRCV000688257 RCV002325367
NM_015046.7(SETX):c.1374T>G (p.Phe458Leu)	SNV Germline	Chr9:132330224	Conflicting classifications of pathogenicity	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4 Condition: not provided Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_201441886	5 SubmittersRCV000702549 RCV001662774 RCV001167523 RCV001167524 RCV002386256
NM_007126.5(VCP):c.374G>A (p.Gly125Asp)	SNV Germline	Chr9:35066746	Conflicting classifications of pathogenicity	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	Criteria Provided Conflicting Classifications		rs_1563980403	2 SubmittersRCV001809749 RCV002233201
NM_025137.4(SPG11):c.7249G>A (p.Glu2417Lys)	SNV Germline	Chr15:44563204	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 11 Condition: not provided Inborn genetic diseases Amyotrophic lateral sclerosis type 5 Charcot-Marie-Tooth disease axonal type 2X	Criteria Provided Conflicting Classifications		rs_371313584	4 SubmittersRCV000685566 RCV001584551 RCV002369821 RCV002467995 RCV002467996
NM_013254.4(TBK1):c.1957G>C (p.Glu653Gln)	SNV Germline	Chr12:64497257	Conflicting classifications of pathogenicity	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 TBK1-related disorder	Criteria Provided Conflicting Classifications		rs_144370662	2 SubmittersRCV000704095 RCV003980319
NM_025137.4(SPG11):c.763A>G (p.Lys255Glu)	SNV Germline	Chr15:44657201	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 11 Inborn genetic diseases Amyotrophic lateral sclerosis type 5 Charcot-Marie-Tooth disease axonal type 2X Condition: not provided	Criteria Provided Conflicting Classifications		rs_139091750	4 SubmittersRCV000696904 RCV002388274 RCV002468012 RCV002468013 RCV001799700
NM_015046.7(SETX):c.4828C>T (p.Leu1610Phe)	SNV Germline	Chr9:132326770	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications		rs_749891883	4 SubmittersRCV000696941 RCV002334326 RCV002473117
NM_025137.4(SPG11):c.5270A>G (p.His1757Arg)	SNV Germline	Chr15:44584410	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 11 Condition: not provided Inborn genetic diseases Amyotrophic lateral sclerosis type 5 Charcot-Marie-Tooth disease axonal type 2X	Criteria Provided Conflicting Classifications		rs_139423939	4 SubmittersRCV000686533 RCV000995317 RCV002343435 RCV002467999 RCV002468000
NM_025137.4(SPG11):c.5969A>G (p.Tyr1990Cys)	SNV Germline	Chr15:44574939	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 11 Inborn genetic diseases Amyotrophic lateral sclerosis type 5 Hereditary spastic paraplegia 11 Charcot-Marie-Tooth disease axonal type 2X	Criteria Provided Conflicting Classifications		rs_199920965	3 SubmittersRCV000685460 RCV002352108 RCV002493138
NM_025137.4(SPG11):c.5471G>A (p.Arg1824Gln)	SNV Germline	Chr15:44584209	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 11 Amyotrophic lateral sclerosis type 5 Hereditary spastic paraplegia 11 Charcot-Marie-Tooth disease axonal type 2X Charcot-Marie-Tooth disease axonal type 2X Condition: not provided Amyotrophic lateral sclerosis type 5	Criteria Provided Conflicting Classifications		rs_752401008	6 SubmittersRCV000692442 RCV000765211 RCV002468006 RCV003223668 RCV002468005
NM_000454.5(SOD1):c.122A>G (p.Glu41Gly)	SNV Germline	Chr21:31663839	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 1	Criteria Provided Conflicting Classifications		rs_1568809149	2 SubmittersRCV000697630
NM_004738.5(VAPB):c.58+5G>A	SNV Germline	Chr20:58389522	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 8 Adult-onset proximal spinal muscular atrophy, autosomal dominant Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_753611165	2 SubmittersRCV002254568 RCV002352159
NM_025137.4(SPG11):c.6598A>T (p.Lys2200Ter)	SNV Germline	Chr15:44567580	Pathogenic	Hereditary spastic paraplegia 11 Hereditary spastic paraplegia SPG11-related disorder Early-onset Parkinson disease 20 Amyotrophic lateral sclerosis type 5 Hereditary spastic paraplegia 11 Charcot-Marie-Tooth disease axonal type 2X	Criteria Provided Multiple Submitters No Conflicts		rs_141263564	6 SubmittersRCV000694024 RCV001849059 RCV003411614 RCV003447554 RCV003883160
NM_213720.3(CHCHD10):c.276T>A (p.Ala92=)	SNV Germline	Chr22:23766261	Conflicting classifications of pathogenicity	Lower motor neuron syndrome with late-adult onset Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 Autosomal dominant mitochondrial myopathy with exercise intolerance Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_1252496774	2 SubmittersRCV000688111 RCV002440432
NM_000454.5(SOD1):c.301G>A (p.Glu101Lys)	SNV Germline	Chr21:31667319	Pathogenic/Likely pathogenic	Amyotrophic lateral sclerosis type 1 Condition: not provided Amyotrophic lateral sclerosis	Criteria Provided Multiple Submitters No Conflicts		rs_76731700	3 SubmittersRCV000696225 RCV000713400 RCV001843542
NM_213720.3(CHCHD10):c.312C>G (p.Tyr104Ter)	SNV Germline	Chr22:23766225	Conflicting classifications of pathogenicity	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 Autosomal dominant mitochondrial myopathy with exercise intolerance Lower motor neuron syndrome with late-adult onset Condition: not provided	Criteria Provided Conflicting Classifications		rs_9153	2 SubmittersRCV000685394 RCV001268858
NM_000454.5(SOD1):c.268G>A (p.Ala90Thr)	SNV Germline	Chr21:31667286	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 1 Condition: not provided	Criteria Provided Conflicting Classifications		rs_1568810660	3 SubmittersRCV000687912 RCV000713398
NM_007375.4(TARDBP):c.669C>G (p.Pro223=)	SNV Germline	Chr1:11020554	Conflicting classifications of pathogenicity	Condition: not provided Amyotrophic lateral sclerosis type 10 Amyotrophic lateral sclerosis type 10 TARDBP-related frontotemporal dementia Inborn genetic diseases TARDBP-related disorder	Criteria Provided Conflicting Classifications		rs_149517613	6 SubmittersRCV000713824 RCV001101666 RCV001467552 RCV003303206 RCV003965466
NM_015046.7(SETX):c.7516G>A (p.Ala2506Thr)	SNV Germline	Chr9:132264757	Conflicting classifications of pathogenicity	Condition: not provided Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	Criteria Provided Conflicting Classifications		rs_1160553456	3 SubmittersRCV000713231 RCV001861987 RCV003338745
NM_015046.7(SETX):c.6292C>T (p.Arg2098Ter)	SNV Germline	Chr9:132288268	Pathogenic	Condition: not provided Amyotrophic lateral sclerosis type 4	Criteria Provided Multiple Submitters No Conflicts		rs_770684782	2 SubmittersRCV000713229 RCV003221304
NM_015046.7(SETX):c.5591A>C (p.Gln1864Pro)	SNV Germline	Chr9:132298270	Conflicting classifications of pathogenicity	Condition: not provided Amyotrophic lateral sclerosis type 4 Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	Criteria Provided Conflicting Classifications		rs_375747001	4 SubmittersRCV000713222 RCV001644780 RCV002532951
NM_015046.7(SETX):c.4672A>G (p.Thr1558Ala)	SNV Germline	Chr9:132326926	Conflicting classifications of pathogenicity	Condition: not provided Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4 Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Frontotemporal dementia	Criteria Provided Conflicting Classifications		rs_764920626	4 SubmittersRCV000713215 RCV001165734 RCV001169728 RCV001861986 RCV001849076
NM_015046.7(SETX):c.3965C>A (p.Thr1322Asn)	SNV Germline	Chr9:132327633	Conflicting classifications of pathogenicity	Condition: not provided Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Hereditary spastic paraplegia Inborn genetic diseases SETX-related disorder	Criteria Provided Conflicting Classifications		rs_144900653	5 SubmittersRCV000713211 RCV001210286 RCV001849075 RCV002369984 RCV004544961
NM_015046.7(SETX):c.2750T>C (p.Met917Thr)	SNV Germline	Chr9:132328848	Conflicting classifications of pathogenicity	Condition: not provided Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 not specified SETX-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_376022544	7 SubmittersRCV000713201 RCV001042487 RCV002265868 RCV004535770 RCV002440565
NM_015046.7(SETX):c.2176T>C (p.Cys726Arg)	SNV Germline	Chr9:132329422	Conflicting classifications of pathogenicity	Condition: not provided Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Inborn genetic diseases Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4	Criteria Provided Conflicting Classifications		rs_377734748	6 SubmittersRCV000713200 RCV001232643 RCV002424738 RCV003233835 RCV003233836
NM_015046.7(SETX):c.1754A>G (p.Gln585Arg)	SNV Germline	Chr9:132329844	Conflicting classifications of pathogenicity	Condition: not provided Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4 Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_188247474	4 SubmittersRCV000713199 RCV002532950 RCV002397497
NM_000454.5(SOD1):c.50G>C (p.Gly17Ala)	SNV Germline	Chr21:31659819	Pathogenic/Likely pathogenic	Condition: not provided Amyotrophic lateral sclerosis type 1	Criteria Provided Multiple Submitters No Conflicts		rs_1200906022	3 SubmittersRCV000713408 RCV001386880
NM_000454.5(SOD1):c.420C>A (p.Asn140Lys)	SNV Germline	Chr21:31668533	Pathogenic	Condition: not provided Amyotrophic lateral sclerosis type 1	Criteria Provided Multiple Submitters No Conflicts		rs_1804449	2 SubmittersRCV000713404 RCV001861989
NM_000454.5(SOD1):c.435G>C (p.Leu145Phe)	SNV Germline	Chr21:31668548	Pathogenic	Condition: not provided Amyotrophic lateral sclerosis type 1	Criteria Provided Multiple Submitters No Conflicts		rs_1482760341	5 SubmittersRCV000713407 RCV000808273
NM_007126.5(VCP):c.277C>T (p.Arg93Cys)	SNV Germline	Chr9:35067916	Pathogenic	Condition: not provided Inclusion body myopathy with Paget disease of bone and frontotemporal dementia Frontotemporal dementia and/or amyotrophic lateral sclerosis 6	Criteria Provided Multiple Submitters No Conflicts		rs_1554669087	4 SubmittersRCV000728008 RCV002233733
NM_007126.5(VCP):c.1863C>T (p.Gly621=)	SNV Germline	Chr9:35059634	Conflicting classifications of pathogenicity	Condition: not provided Inclusion body myopathy with Paget disease of bone and frontotemporal dementia Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_376510669	4 SubmittersRCV000728329 RCV001462593 RCV002406659
NM_007126.5(VCP):c.258A>G (p.Arg86=)	SNV Germline	Chr9:35067935	Conflicting classifications of pathogenicity	Condition: not provided Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_1563980979	3 SubmittersRCV000729518 RCV001408701 RCV002424743
NM_007126.5(VCP):c.1242G>A (p.Leu414=)	SNV Germline	Chr9:35061132	Conflicting classifications of pathogenicity	Condition: not provided Inclusion body myopathy with Paget disease of bone and frontotemporal dementia Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_375262833	4 SubmittersRCV000729642 RCV001221457 RCV002386295
NM_007126.5(VCP):c.1488T>C (p.Pro496=)	SNV Germline	Chr9:35060520	Conflicting classifications of pathogenicity	Condition: not provided Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_1563976866	3 SubmittersRCV000730972 RCV001402342 RCV002388365
NM_007126.5(VCP):c.284G>C (p.Arg95Pro)	SNV Germline	Chr9:35067909	Conflicting classifications of pathogenicity	Condition: not provided Inclusion body myopathy with Paget disease of bone and frontotemporal dementia Frontotemporal dementia and/or amyotrophic lateral sclerosis 6	Criteria Provided Conflicting Classifications		rs_758169026	2 SubmittersRCV000731593 RCV001046936
NM_007126.5(VCP):c.340A>G (p.Ile114Val)	SNV Germline	Chr9:35066780	Conflicting classifications of pathogenicity	Condition: not provided Inclusion body myopathy with Paget disease of bone and frontotemporal dementia Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 Inborn genetic diseases VCP-related disorder	Criteria Provided Conflicting Classifications		rs_549915384	4 SubmittersRCV000733637 RCV000801185 RCV002332532 RCV004535869
NM_015046.7(SETX):c.5051C>G (p.Ser1684Cys)	SNV Germline	Chr9:132326547	Conflicting classifications of pathogenicity	Condition: not provided Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Hereditary spastic paraplegia Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_140116005	7 SubmittersRCV000757760 RCV001047649 RCV001849091 RCV002343608
NM_013254.4(TBK1):c.1069C>T (p.Arg357Ter)	SNV Germline	Chr12:64484379	Pathogenic	Condition: not provided Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	Criteria Provided Multiple Submitters No Conflicts		rs_1328949478	2 SubmittersRCV000760459 RCV002536579
NM_015046.7(SETX):c.6013G>A (p.Val2005Met)	SNV Germline	Chr9:132295965	Conflicting classifications of pathogenicity	Condition: not provided not specified Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_148568105	4 SubmittersRCV000762580 RCV001662806 RCV001855957 RCV002352274
NM_015046.7(SETX):c.7330C>T (p.Arg2444Cys)	SNV Germline	Chr9:132264943	Conflicting classifications of pathogenicity	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4 Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_372535542	3 SubmittersRCV000778875 RCV001169582 RCV002386359
NM_001008212.2(OPTN):c.403G>T (p.Glu135Ter)	SNV Germline	Chr10:13112486	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 12 Primary open angle glaucoma Glaucoma 1, open angle, E Primary open angle glaucoma Amyotrophic lateral sclerosis type 12	Criteria Provided Conflicting Classifications		rs_140599944	3 SubmittersRCV000778274 RCV001105536 RCV001869132
NM_001008212.2(OPTN):c.626+1G>A	SNV Germline	Chr10:13116341	Conflicting classifications of pathogenicity	OPTN-related disorder Glaucoma 1, open angle, E Primary open angle glaucoma Amyotrophic lateral sclerosis type 12 Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_756957223	3 SubmittersRCV000778900 RCV001869138 RCV003344037
NM_020919.4(ALS2):c.4415C>T (p.Thr1472Met)	SNV Germline	Chr2:201707011	Conflicting classifications of pathogenicity	Infantile-onset ascending hereditary spastic paralysis ALS2-related disorder Amyotrophic lateral sclerosis type 2, juvenile	Criteria Provided Conflicting Classifications		rs_201089588	2 SubmittersRCV000803341 RCV001136863 RCV001136862
NM_020919.4(ALS2):c.3520A>T (p.Lys1174Ter)	SNV Germline	Chr2:201723434	Pathogenic	Infantile-onset ascending hereditary spastic paralysis Condition: not provided Amyotrophic lateral sclerosis type 2, juvenile	Criteria Provided Multiple Submitters No Conflicts		rs_757972700	4 SubmittersRCV000800103 RCV002051896 RCV001375960
NM_004082.5(DCTN1):c.3712C>G (p.Gln1238Glu)	SNV Germline	Chr2:74361624	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 1 Perry syndrome Neuronopathy, distal hereditary motor, type 7B Neuronopathy, distal hereditary motor, type 7B Perry syndrome	Criteria Provided Conflicting Classifications		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	Criteria Provided Conflicting Classifications		rs_757034536	2 SubmittersRCV000812480 RCV002442720
NM_004082.5(DCTN1):c.3158C>T (p.Pro1053Leu)	SNV Germline	Chr2:74365113	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 1 Perry syndrome Neuronopathy, distal hereditary motor, type 7B Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_752079233	2 SubmittersRCV000811243 RCV002325581
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	Criteria Provided Conflicting Classifications		rs_72659379	2 SubmittersRCV000810084 RCV002440741
NM_004082.5(DCTN1):c.1225C>T (p.Arg409Trp)	SNV Germline	Chr2:74370248	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 1 Neuronopathy, distal hereditary motor, type 7B Perry syndrome Frontotemporal dementia Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications		rs_150368544	4 SubmittersRCV000803250 RCV001849104 RCV002537155 RCV003480838
NM_018834.6(MATR3):c.1132G>A (p.Ala378Thr)	SNV Germline	Chr5:139317055	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 21 Condition: not provided MATR3-related disorder	Criteria Provided Conflicting Classifications		rs_201075828	6 SubmittersRCV000806815 RCV001683661 RCV004538106
NM_003900.5(SQSTM1):c.995C>G (p.Ser332Ter)	SNV Germline	Chr5:179833612	Pathogenic	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 Paget disease of bone 2, early-onset	Criteria Provided Single Submitter		rs_1185406298	1 SubmittersRCV000795535
NM_015046.7(SETX):c.6122T>C (p.Ile2041Thr)	SNV Germline	Chr9:132288636	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Condition: not provided not specified Inborn genetic diseases SETX-related disorder	Criteria Provided Conflicting Classifications		rs_140676924	7 SubmittersRCV000792834 RCV001169647 RCV001169648 RCV000992948 RCV001644824 RCV002352314 RCV004538088
NM_015046.7(SETX):c.6058A>G (p.Ile2020Val)	SNV Germline	Chr9:132295920	Conflicting classifications of pathogenicity	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4 Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_546932016	2 SubmittersRCV000793058 RCV003344049
NM_015046.7(SETX):c.5473A>G (p.Thr1825Ala)	SNV Germline	Chr9:132300705	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Condition: not provided Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Inborn genetic diseases SETX-related disorder	Criteria Provided Conflicting Classifications		rs_151046729	5 SubmittersRCV000821447 RCV000992944 RCV001167265 RCV001167266 RCV002345897 RCV004540119
NM_015046.7(SETX):c.4906A>G (p.Lys1636Glu)	SNV Germline	Chr9:132326692	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Inborn genetic diseases Condition: not provided Amyotrophic lateral sclerosis type 4	Criteria Provided Conflicting Classifications		rs_368931174	4 SubmittersRCV000795164 RCV002334477 RCV002272358 RCV002290435
NM_015046.7(SETX):c.3650C>T (p.Thr1217Met)	SNV Germline	Chr9:132327948	Conflicting classifications of pathogenicity	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4 Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_140892948	2 SubmittersRCV000794210 RCV002458415
NM_015046.7(SETX):c.3040A>G (p.Ile1014Val)	SNV Germline	Chr9:132328558	Conflicting classifications of pathogenicity	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4 Inborn genetic diseases Condition: not provided Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4	Criteria Provided Conflicting Classifications		rs_761243379	6 SubmittersRCV000795770 RCV002442634 RCV002473139 RCV003233851 RCV003233852
NM_015046.7(SETX):c.2399G>T (p.Arg800Met)	SNV Germline	Chr9:132329199	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Condition: not provided Inborn genetic diseases Tay-Sachs disease	Criteria Provided Conflicting Classifications		rs_761725498	4 SubmittersRCV000820064 RCV001311798 RCV002442748 RCV002290467
NM_025137.4(SPG11):c.4436G>A (p.Gly1479Asp)	SNV Germline	Chr15:44595458	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 11 Amyotrophic lateral sclerosis type 5 Charcot-Marie-Tooth disease axonal type 2X Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications		rs_374303102	4 SubmittersRCV000811250 RCV002468060 RCV002468061 RCV002538091 RCV001597216
NM_025137.4(SPG11):c.3809T>A (p.Val1270Asp)	SNV Germline	Chr15:44598714	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 11 Amyotrophic lateral sclerosis type 5	Criteria Provided Multiple Submitters No Conflicts		rs_1555451521	2 SubmittersRCV000818278 RCV002249527
NM_025137.4(SPG11):c.1775C>T (p.Ser592Leu)	SNV Germline	Chr15:44629349	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 11 Condition: not provided Inborn genetic diseases Charcot-Marie-Tooth disease axonal type 2X Amyotrophic lateral sclerosis type 5	Criteria Provided Conflicting Classifications		rs_373796566	5 SubmittersRCV000811249 RCV001593001 RCV002397668 RCV002468059 RCV002468058
NM_213720.3(CHCHD10):c.196G>A (p.Gly66Ser)	SNV Germline	Chr22:23767439	Conflicting classifications of pathogenicity	Lower motor neuron syndrome with late-adult onset Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 Autosomal dominant mitochondrial myopathy with exercise intolerance Inborn genetic diseases Condition: not provided CHCHD10-related disorder	Criteria Provided Conflicting Classifications		rs_374211312	4 SubmittersRCV000812293 RCV002422795 RCV003145171 RCV003411792
NM_014845.6(FIG4):c.1271+5A>G	SNV Germline	Chr6:109760388	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 4 Amyotrophic lateral sclerosis type 11 Charcot-Marie-Tooth disease type 4J FIG4-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_374583399	5 SubmittersRCV001173274 RCV000821312 RCV001158266 RCV001158267 RCV003908110 RCV002372344
NM_013254.4(TBK1):c.701+1G>A	SNV Germline	Chr12:64474391	Pathogenic/Likely pathogenic	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 Amyotrophic lateral sclerosis TBK1-related disorder	Criteria Provided Multiple Submitters No Conflicts		rs_1592362719	3 SubmittersRCV000797764 RCV001843550 RCV003411753
NM_000454.5(SOD1):c.290A>T (p.Asp97Val)	SNV Unknown	Chr21:31667308	Likely pathogenic	Amyotrophic lateral sclerosis type 1	Criteria Provided Single Submitter		rs_1555836803	1 SubmittersRCV000853537
NM_020919.4(ALS2):c.1718C>A (p.Ala573Glu)	SNV Germline	Chr2:201753165	Likely pathogenic	Infantile-onset ascending hereditary spastic paralysis Amyotrophic lateral sclerosis type 2, juvenile	Criteria Provided Multiple Submitters No Conflicts		rs_763455928	2 SubmittersRCV001089471 RCV001095477
NM_000454.5(SOD1):c.317C>T (p.Ser106Leu)	SNV Germline	Chr21:31667335	Pathogenic	Amyotrophic lateral sclerosis Amyotrophic lateral sclerosis type 1	Criteria Provided Multiple Submitters No Conflicts		rs_1378590183	2 SubmittersRCV000857231 RCV001858533
NM_020919.4(ALS2):c.1627G>A (p.Asp543Asn)	SNV Germline	Chr2:201754516	Conflicting classifications of pathogenicity	ALS2-related disorder Infantile-onset ascending hereditary spastic paralysis Amyotrophic lateral sclerosis type 2, juvenile Hereditary spastic paraplegia Condition: not provided	Criteria Provided Conflicting Classifications		rs_201161419	6 SubmittersRCV001143735 RCV000862041 RCV001143736 RCV001849153 RCV001672966
NM_014845.6(FIG4):c.658A>G (p.Ile220Val)	SNV Germline	Chr6:109738336	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 4J Charcot-Marie-Tooth disease Amyotrophic lateral sclerosis type 11 Charcot-Marie-Tooth disease type 4 Inborn genetic diseases FIG4-related disorder	Criteria Provided Conflicting Classifications		rs_565096937	5 SubmittersRCV001154807 RCV001172965 RCV001154808 RCV000860529 RCV002372390 RCV003892776
NM_020919.4(ALS2):c.396G>A (p.Pro132=)	SNV Germline	Chr2:201761598	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 2, juvenile ALS2-related disorder Infantile-onset ascending hereditary spastic paralysis	Criteria Provided Conflicting Classifications		rs_374978798	2 SubmittersRCV001142052 RCV001142051 RCV002539027
NM_020919.4(ALS2):c.366G>A (p.Gln122=)	SNV Germline	Chr2:201761628	Conflicting classifications of pathogenicity	ALS2-related disorder Amyotrophic lateral sclerosis type 2, juvenile Infantile-onset ascending hereditary spastic paralysis Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications		rs_775483404	3 SubmittersRCV001142056 RCV001142055 RCV000866239 RCV001847066

NM_025137.4(SPG11):c.118C>T (p.Gln40Ter)

SNV
Germline

Chr15:44663530

Pathogenic

Hereditary spastic paraplegia 11
Charcot-Marie-Tooth disease axonal type 2X
Amyotrophic lateral sclerosis type 5

Criteria Provided
Single Submitter

CA249693

rs_267607084

3 SubmittersRCV000001170 RCV000202382 RCV000193032

NM_025137.4(SPG11):c.5623C>T (p.Gln1875Ter)

SNV
Germline

Chr15:44584057

Pathogenic

Hereditary spastic paraplegia 11
Condition: not provided
Inborn genetic diseases
Hereditary spastic paraplegia 11
Charcot-Marie-Tooth disease axonal type 2X
Amyotrophic lateral sclerosis type 5

Criteria Provided
Multiple Submitters
No Conflicts

CA339870

rs_141848292

11 SubmittersRCV000001175 RCV000413953 RCV002345222 RCV002482813

NM_014043.4(CHMP2B):c.618A>C (p.Gln206His)

SNV
Germline

Chr3:87253798

Pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
Condition: not provided

No Assertion Criteria Provided

CA224980

rs_63751126

3 SubmittersRCV000020696 RCV000084279

NM_014043.4(CHMP2B):c.493C>T (p.Gln165Ter)

SNV
Germline

Chr3:87253472

Pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
Condition: not provided

No Assertion Criteria Provided

CA224975

rs_63750355

3 SubmittersRCV000001722 RCV000084276

NM_014845.6(FIG4):c.122T>C (p.Ile41Thr)

SNV
Germline

Chr6:109715133

Pathogenic/Likely pathogenic

Charcot-Marie-Tooth disease type 4J
Condition: not provided
Charcot-Marie-Tooth disease type 4
Amyotrophic lateral sclerosis type 11
Amyotrophic lateral sclerosis
Yunis-Varon syndrome
Bilateral parasagittal parieto-occipital polymicrogyria
Inborn genetic diseases
Yunis-Varon syndrome
Charcot-Marie-Tooth disease type 4J
FIG4-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA233088

rs_121908287

32 SubmittersRCV000001791 RCV000143812 RCV000476702 RCV000416487 RCV001095515 RCV001270162 RCV001330564 RCV002362551 RCV001535566 RCV003952336

NM_014845.6(FIG4):c.547C>T (p.Arg183Ter)

SNV
Germline

Chr6:109735199

Pathogenic/Likely pathogenic

Amyotrophic lateral sclerosis type 11
Charcot-Marie-Tooth disease type 4J
Condition: not provided
Charcot-Marie-Tooth disease type 4
Amyotrophic lateral sclerosis
FIG4-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA251931

rs_121908288

6 SubmittersRCV000001796 RCV000001793 RCV000235305 RCV001046714 RCV001095516 RCV003944790

NM_014845.6(FIG4):c.157G>T (p.Asp53Tyr)

SNV
Germline

Chr6:109715168

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 11
Amyotrophic lateral sclerosis

No Assertion Criteria Provided

CA251934

rs_121908290

2 SubmittersRCV000001798 RCV003447064

NM_015046.7(SETX):c.1166T>C (p.Leu389Ser)

SNV
Germline

Chr9:132330432

Pathogenic

Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Condition: not provided
Distal spinal muscular atrophy
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2

Criteria Provided
Multiple Submitters
No Conflicts

CA252183

rs_29001584

7 SubmittersRCV000002379 RCV000644828 RCV000724322 RCV000789615 RCV003233065

NM_015046.7(SETX):c.8C>T (p.Thr3Ile)

SNV
Germline

Chr9:132349421

Likely pathogenic

Amyotrophic lateral sclerosis type 4
Condition: not provided
Distal spinal muscular atrophy

Criteria Provided
Single Submitter

CA252185

rs_28941475

5 SubmittersRCV000002380 RCV000414273 RCV000789614

NM_015046.7(SETX):c.6407G>A (p.Arg2136His)

SNV
Germline

Chr9:132283403

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 4
Distal spinal muscular atrophy

No Assertion Criteria Provided

CA252187

rs_121434378

3 SubmittersRCV000002381 RCV000789616

NM_015046.7(SETX):c.5929C>T (p.Leu1977Phe)

SNV
Germline

Chr9:132296907

Conflicting classifications of pathogenicity

Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Condition: not provided
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4

Criteria Provided
Conflicting Classifications

CA252191

rs_121434380

5 SubmittersRCV000002385 RCV001288413 RCV003764517

NM_004738.5(VAPB):c.166C>T (p.Pro56Ser)

SNV
Germline

Chr20:58418318

Pathogenic

Amyotrophic lateral sclerosis type 8
Condition: not provided
Adult-onset proximal spinal muscular atrophy, autosomal dominant
Adult-onset proximal spinal muscular atrophy, autosomal dominant
Amyotrophic lateral sclerosis type 8

Criteria Provided
Multiple Submitters
No Conflicts

CA117096

rs_74315431

7 SubmittersRCV000005073 RCV000059635 RCV002254541 RCV002254542

NM_017672.6(TRPM7):c.4445C>T (p.Thr1482Ile)

SNV
Germline

Chr15:50586433

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1, susceptibility to
Juvenile amyotrophic lateral sclerosis
Condition: not provided
TRPM7-related disorder

Criteria Provided
Conflicting Classifications

CA117098

rs_8042919

4 SubmittersRCV000005076 RCV001095429 RCV001723538 RCV003964793

NM_007375.4(TARDBP):c.1009A>G (p.Met337Val)

SNV
Germline

Chr1:11022418

Pathogenic

Amyotrophic lateral sclerosis type 10
TARDBP-related frontotemporal dementia
Amyotrophic lateral sclerosis type 10
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA340373

rs_80356730

6 SubmittersRCV000005539 RCV000693006 RCV001090806

NM_007375.4(TARDBP):c.991C>A (p.Gln331Lys)

SNV
Germline

Chr1:11022400

Pathogenic

Amyotrophic lateral sclerosis type 10

No Assertion Criteria Provided

CA253443

rs_80356727

1 SubmittersRCV000005540

NM_007375.4(TARDBP):c.892G>A (p.Gly298Ser)

SNV
Germline

Chr1:11022301

Pathogenic

Amyotrophic lateral sclerosis type 10
Condition: not provided
TARDBP-related frontotemporal dementia
Amyotrophic lateral sclerosis type 10

Criteria Provided
Multiple Submitters
No Conflicts

CA340375

rs_4884357

5 SubmittersRCV000005543 RCV000713825 RCV001851670

NM_007375.4(TARDBP):c.506A>G (p.Asp169Gly)

SNV
Germline

Chr1:11018836

Pathogenic

Amyotrophic lateral sclerosis type 10

No Assertion Criteria Provided

CA340377

rs_80356717

2 SubmittersRCV000005544

NM_007375.4(TARDBP):c.1042G>T (p.Gly348Cys)

SNV
Germline

Chr1:11022451

Pathogenic/Likely pathogenic

Amyotrophic lateral sclerosis type 10
Condition: not provided
TARDBP-related frontotemporal dementia
Amyotrophic lateral sclerosis type 10

Criteria Provided
Multiple Submitters
No Conflicts

CA340379

rs_80356733

6 SubmittersRCV000005545 RCV000516886 RCV001851671

NM_007375.4(TARDBP):c.1028A>G (p.Gln343Arg)

SNV
Germline

Chr1:11022437

Pathogenic

Amyotrophic lateral sclerosis type 10

No Assertion Criteria Provided

CA253449

rs_80356731

1 SubmittersRCV000005546

NM_007375.4(TARDBP):c.943G>A (p.Ala315Thr)

SNV
Germline

Chr1:11022352

Pathogenic

Amyotrophic lateral sclerosis type 10
TARDBP-related frontotemporal dementia
Amyotrophic lateral sclerosis type 10
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA340381

rs_80356726

5 SubmittersRCV000005547 RCV001384596 RCV004546411

NM_001378743.1(CYLD):c.2806C>T (p.Arg936Ter)

SNV
Germline

Chr16:50796443

Pathogenic

Brooke-Spiegler syndrome
Familial multiple trichoepitheliomata
Familial cylindromatosis
Trichoepithelioma, multiple familial, 1
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8
Familial cylindromatosis
Brooke-Spiegler syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA214928

rs_121908390

3 SubmittersRCV000005575 RCV000005574 RCV000005573 RCV002496269

NM_001008212.2(OPTN):c.1634G>A (p.Arg545Gln)

SNV
Germline

Chr10:13136766

Conflicting classifications of pathogenicity

Glaucoma 1, open angle, E
Primary open angle glaucoma
Amyotrophic lateral sclerosis type 12
Primary open angle glaucoma
Glaucoma 1, open angle, E
Amyotrophic lateral sclerosis type 12
not specified
Condition: not provided
OPTN-related disorder

Criteria Provided
Conflicting Classifications

CA118630

rs_75654767

9 SubmittersRCV000007515 RCV000356568 RCV000301689 RCV000559186 RCV001289042 RCV001610287 RCV004532306

NM_001008212.2(OPTN):c.1192C>T (p.Gln398Ter)

SNV
Germline

Chr10:13125989

Pathogenic

Amyotrophic lateral sclerosis type 12

No Assertion Criteria Provided

CA254103

rs_267606928

1 SubmittersRCV000007519

NM_001008212.2(OPTN):c.1433A>G (p.Glu478Gly)

SNV
Germline

Chr10:13132098

Pathogenic

Amyotrophic lateral sclerosis type 12

Criteria Provided
Single Submitter

CA254105

rs_267606929

2 SubmittersRCV000007520

NM_003900.5(SQSTM1):c.1175C>T (p.Pro392Leu)

SNV
Germline

Chr5:179836445

Conflicting classifications of pathogenicity

Paget disease of bone 3
Frontotemporal dementia and/or amyotrophic lateral sclerosis 3
Paget disease of bone 3
Frontotemporal dementia and/or amyotrophic lateral sclerosis 3
Condition: not provided
Spastic paraplegia-Paget disease of bone syndrome
Amyotrophic lateral sclerosis
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
Paget disease of bone 2, early-onset

Criteria Provided
Conflicting Classifications

CA203866

rs_104893941

14 SubmittersRCV000008576 RCV000184063 RCV000477939 RCV000490214 RCV000824803 RCV002508916 RCV001084507

NM_003900.5(SQSTM1):c.1165+1G>A

SNV
Germline

Chr5:179833783

Pathogenic

Paget disease of bone 3
Paget disease of bone 2, early-onset
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
Myopathy, distal, with rimmed vacuoles

Criteria Provided
Single Submitter

CA340743

rs_796051870

2 SubmittersRCV000008578 RCV000652541 RCV001799592

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

SNV
Germline

Chr2:74378104

Pathogenic

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

Criteria Provided
Single Submitter

CA340781

rs_121909342

4 SubmittersRCV000008909 RCV000644484 RCV000789086 RCV003447080

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

SNV
Germline

Chr2:74366896

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA119587

rs_121909344

12 SubmittersRCV000008912 RCV000144867 RCV000644476 RCV000986781 RCV001140673 RCV001140674 RCV001572734 RCV002444424 RCV003952351

NM_007126.5(VCP):c.464G>A (p.Arg155His)

SNV
Germline

Chr9:35065363

Pathogenic

Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1
Condition: not provided
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA128983

rs_121909329

11 SubmittersRCV000008989 RCV000523065 RCV000540496 RCV001271089 RCV002336080

NM_007126.5(VCP):c.463C>T (p.Arg155Cys)

SNV
Germline

Chr9:35065364

Pathogenic/Likely pathogenic

Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1
Condition: not provided
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6

Criteria Provided
Multiple Submitters
No Conflicts

CA254398

rs_121909330

7 SubmittersRCV000008990 RCV000372207 RCV000685660 RCV001095424

NM_007126.5(VCP):c.464G>C (p.Arg155Pro)

SNV
Germline

Chr9:35065363

Conflicting classifications of pathogenicity

Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
Condition: not provided

Criteria Provided
Conflicting Classifications

CA254404

rs_121909329

3 SubmittersRCV000008993 RCV001387337 RCV003137504

NM_007126.5(VCP):c.572G>A (p.Arg191Gln)

SNV
Germline

Chr9:35065255

Pathogenic/Likely pathogenic

Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
Condition: not provided
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1
Charcot-Marie-Tooth disease type 2Y

Criteria Provided
Multiple Submitters
No Conflicts

CA254406

rs_121909334

11 SubmittersRCV000008994 RCV000023064 RCV000555373 RCV000516636 RCV002496309

NM_007126.5(VCP):c.476G>A (p.Arg159His)

SNV
Germline

Chr9:35065351

Pathogenic

Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1
Condition: not provided
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
VCP-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA254408

rs_121909335

11 SubmittersRCV000008995 RCV000276565 RCV000639653 RCV003335021 RCV004532314

NM_006262.4(PRPH):c.421G>T (p.Asp141Tyr)

SNV
Germline

Chr12:49295621

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis, susceptibility to
Condition: not provided
not specified
PRPH-related disorder

Criteria Provided
Conflicting Classifications

CA123381

rs_58599399

7 SubmittersRCV000014706 RCV000057167 RCV000523206 RCV003964802

NM_018834.6(MATR3):c.254C>G (p.Ser85Cys)

SNV
Germline

Chr5:139307669

Pathogenic

Amyotrophic lateral sclerosis type 21
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA123688

rs_121434591

7 SubmittersRCV000015039 RCV000517083

NM_000454.5(SOD1):c.112G>A (p.Gly38Arg)

SNV
Germline

Chr21:31663829

Pathogenic

Amyotrophic lateral sclerosis type 1
Motor neuron disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA257311

rs_121912431

4 SubmittersRCV000015874 RCV000492487 RCV003480031

NM_000454.5(SOD1):c.115C>G (p.Leu39Val)

SNV
Germline

Chr21:31663832

Pathogenic/Likely pathogenic

Amyotrophic lateral sclerosis type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA257313

rs_121912432

4 SubmittersRCV000015875 RCV000997816

NM_000454.5(SOD1):c.124G>A (p.Gly42Ser)

SNV
Germline

Chr21:31663841

Pathogenic

Amyotrophic lateral sclerosis type 1
Spastic tetraplegia and axial hypotonia, progressive
Amyotrophic lateral sclerosis type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA257315

rs_121912433

3 SubmittersRCV000015876 RCV002496378

NM_000454.5(SOD1):c.125G>A (p.Gly42Asp)

SNV
Germline

Chr21:31663842

Pathogenic

Amyotrophic lateral sclerosis type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA257317

rs_121912434

3 SubmittersRCV000015877

NM_000454.5(SOD1):c.131A>G (p.His44Arg)

SNV
Germline

Chr21:31663848

Pathogenic

Amyotrophic lateral sclerosis type 1
Condition: not provided
Amyotrophic lateral sclerosis type 10
SOD1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA257319

rs_121912435

7 SubmittersRCV000015878 RCV000713397 RCV002463588 RCV003398522

NM_000454.5(SOD1):c.319C>G (p.Leu107Val)

SNV
Germline

Chr21:31667337

Pathogenic

Amyotrophic lateral sclerosis type 1
SOD1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA257321

rs_121912440

3 SubmittersRCV000015879 RCV003390685

NM_000454.5(SOD1):c.256G>C (p.Gly86Arg)

SNV
Germline

Chr21:31667274

Pathogenic

Amyotrophic lateral sclerosis type 1

Criteria Provided
Single Submitter

CA257323

rs_121912436

2 SubmittersRCV000015880

NM_000454.5(SOD1):c.280G>T (p.Gly94Cys)

SNV
Germline

Chr21:31667298

Pathogenic

Amyotrophic lateral sclerosis type 1

Criteria Provided
Single Submitter

CA257325

rs_121912437

2 SubmittersRCV000015881

NM_000454.5(SOD1):c.281G>C (p.Gly94Ala)

SNV
Germline

Chr21:31667299

Pathogenic

Amyotrophic lateral sclerosis type 1

Criteria Provided
Single Submitter

CA257327

rs_121912438

2 SubmittersRCV000015882

NM_000454.5(SOD1):c.302A>G (p.Glu101Gly)

SNV
Germline

Chr21:31667320

Pathogenic

Amyotrophic lateral sclerosis type 1
Motor neuron disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA257329

rs_121912439

4 SubmittersRCV000015883 RCV000492233 RCV001555083

NM_000454.5(SOD1):c.338T>C (p.Ile113Thr)

SNV
Germline

Chr21:31667356

Pathogenic

Amyotrophic lateral sclerosis type 1

Criteria Provided
Single Submitter

CA257331

rs_74315452

2 SubmittersRCV000015884

NM_000454.5(SOD1):c.14C>T (p.Ala5Val)

SNV
Germline

Chr21:31659783

Pathogenic

Amyotrophic lateral sclerosis type 1
Condition: not provided
SOD1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA257333

rs_121912442

10 SubmittersRCV000015885 RCV000518025 RCV003390686

NM_000454.5(SOD1):c.140A>G (p.His47Arg)

SNV
Germline

Chr21:31663857

Pathogenic

Condition: not provided
Amyotrophic lateral sclerosis
Amyotrophic lateral sclerosis type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA257335

rs_121912443

6 SubmittersRCV000281824 RCV001843454 RCV000015886

NM_000454.5(SOD1):c.13G>A (p.Ala5Thr)

SNV
Germline

Chr21:31659782

Pathogenic

Condition: not provided
Amyotrophic lateral sclerosis type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA257337

rs_121912444

4 SubmittersRCV000518527 RCV000015887

NM_000454.5(SOD1):c.272A>C (p.Asp91Ala)

SNV
Germline

Chr21:31667290

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 1
Amyotrophic lateral sclerosis 1, autosomal recessive
Condition: not provided
Amyotrophic lateral sclerosis
SOD1-related disorder

Criteria Provided
Conflicting Classifications

CA124296

rs_80265967

17 SubmittersRCV000015888 RCV000015889 RCV000713399 RCV001843455 RCV003415711

NM_000454.5(SOD1):c.313A>T (p.Ile105Phe)

SNV
Germline

Chr21:31667331

Likely pathogenic

Amyotrophic lateral sclerosis 1, autosomal recessive
Abnormal central motor function

Criteria Provided
Single Submitter

CA124298

rs_121912445

2 SubmittersRCV000015890 RCV001813991

NM_000454.5(SOD1):c.434T>C (p.Leu145Ser)

SNV
Germline

Chr21:31668547

Pathogenic

Condition: not provided
Abnormal central motor function
Amyotrophic lateral sclerosis type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA257339

rs_121912446

5 SubmittersRCV000516860 RCV001813992 RCV000015891

NM_000454.5(SOD1):c.436G>A (p.Ala146Thr)

SNV
Germline

Chr21:31668549

Likely pathogenic

Amyotrophic lateral sclerosis type 1

Criteria Provided
Single Submitter

CA257341

rs_121912447

2 SubmittersRCV000015892

NM_000454.5(SOD1):c.358-10T>G

SNV
Germline

Chr21:31668461

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1197141604

3 SubmittersRCV000015893 RCV001753418

NM_000454.5(SOD1):c.20G>T (p.Cys7Phe)

SNV
Germline

Chr21:31659789

Pathogenic

Amyotrophic lateral sclerosis type 1

No Assertion Criteria Provided

CA257343

rs_121912448

1 SubmittersRCV000015894

NM_000454.5(SOD1):c.455T>C (p.Ile152Thr)

SNV
Germline

Chr21:31668568

Pathogenic

Amyotrophic lateral sclerosis type 1

No Assertion Criteria Provided

CA257345

rs_121912449

1 SubmittersRCV000015895

NM_000454.5(SOD1):c.64G>A (p.Glu22Lys)

SNV
Germline

Chr21:31659833

Pathogenic

Amyotrophic lateral sclerosis type 1

No Assertion Criteria Provided

CA257347

rs_121912450

1 SubmittersRCV000015896

NM_000454.5(SOD1):c.404G>A (p.Ser135Asn)

SNV
Germline

Chr21:31668517

Pathogenic

Amyotrophic lateral sclerosis type 1

No Assertion Criteria Provided

CA257349

rs_121912451

1 SubmittersRCV000015897

NM_000454.5(SOD1):c.253T>G (p.Leu85Val)

SNV
Germline

Chr21:31667271

Pathogenic

Amyotrophic lateral sclerosis type 1

No Assertion Criteria Provided

CA257351

rs_121912452

1 SubmittersRCV000015898

NM_000454.5(SOD1):c.49G>A (p.Gly17Ser)

SNV
Germline

Chr21:31659818

Pathogenic

Amyotrophic lateral sclerosis type 1

No Assertion Criteria Provided

CA257353

rs_121912453

1 SubmittersRCV000015899

NM_000454.5(SOD1):c.380T>A (p.Leu127Ter)

SNV
Germline

Chr21:31668493

Pathogenic

Amyotrophic lateral sclerosis type 1

No Assertion Criteria Provided

CA257355

rs_121912454

1 SubmittersRCV000015900

NM_000454.5(SOD1):c.358-11A>G

SNV
Germline

Chr21:31668460

Pathogenic

Amyotrophic lateral sclerosis type 1

No Assertion Criteria Provided

rs_369600566

1 SubmittersRCV000015901

NM_000454.5(SOD1):c.217G>A (p.Gly73Ser)

SNV
Germline

Chr21:31666496

Likely pathogenic

Amyotrophic lateral sclerosis type 1

Criteria Provided
Single Submitter

CA257358

rs_121912455

2 SubmittersRCV000015902

NM_000454.5(SOD1):c.37G>C (p.Gly13Arg)

SNV
Germline

Chr21:31659806

Likely pathogenic

Amyotrophic lateral sclerosis type 1

Criteria Provided
Single Submitter

CA257360

rs_121912456

2 SubmittersRCV000015903

NM_000454.5(SOD1):c.137T>G (p.Phe46Cys)

SNV
Germline

Chr21:31663854

Pathogenic

Amyotrophic lateral sclerosis type 1

No Assertion Criteria Provided

CA257362

rs_121912457

1 SubmittersRCV000015904

NM_000454.5(SOD1):c.242A>G (p.His81Arg)

SNV
Germline

Chr21:31667260

Pathogenic

Amyotrophic lateral sclerosis type 1

Criteria Provided
Single Submitter

CA257364

rs_121912458

2 SubmittersRCV000015905

NM_000454.5(SOD1):c.280G>C (p.Gly94Arg)

SNV
Germline

Chr21:31667298

Pathogenic/Likely pathogenic

Amyotrophic lateral sclerosis type 1
Motor neuron disease

Criteria Provided
Multiple Submitters
No Conflicts

CA257367

rs_121912437

3 SubmittersRCV000015907 RCV000492720

NM_000454.5(SOD1):c.358-304=

SNV
Germline

Chr21:31668167

Pathogenic

Amyotrophic lateral sclerosis type 1

No Assertion Criteria Provided

rs_1555836889

1 SubmittersRCV000015909

NM_004960.4(FUS):c.1551C>G (p.His517Gln)

SNV
Germline

Chr16:31191408

Pathogenic

Amyotrophic lateral sclerosis 6, autosomal recessive

No Assertion Criteria Provided

CA126283

rs_121909667

1 SubmittersRCV000017608

NM_004960.4(FUS):c.1561C>G (p.Arg521Gly)

SNV
Germline

Chr16:31191418

Pathogenic

Amyotrophic lateral sclerosis type 6
Tremor, hereditary essential, 4
Amyotrophic lateral sclerosis type 6
FUS-related disorder
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA257437

rs_121909668

5 SubmittersRCV000017609 RCV000703284 RCV003421921 RCV002472932

NM_004960.4(FUS):c.1553G>A (p.Arg518Lys)

SNV
Germline

Chr16:31191410

Pathogenic

Amyotrophic lateral sclerosis type 6

No Assertion Criteria Provided

CA257439

rs_121909669

1 SubmittersRCV000017610

NM_004960.4(FUS):c.1561C>T (p.Arg521Cys)

SNV
Germline

Chr16:31191418

Pathogenic

Amyotrophic lateral sclerosis type 6
Condition: not provided
Tremor, hereditary essential, 4
Amyotrophic lateral sclerosis type 6

Criteria Provided
Multiple Submitters
No Conflicts

CA257441

rs_121909668

6 SubmittersRCV000017611 RCV001701569 RCV001851894

NM_004960.4(FUS):c.1562G>A (p.Arg521His)

SNV
Germline

Chr16:31191419

Pathogenic

Amyotrophic lateral sclerosis type 6
Tremor, hereditary essential, 4
Amyotrophic lateral sclerosis type 6
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA257443

rs_121909671

4 SubmittersRCV000017612 RCV001851895 RCV003886363

NM_004960.4(FUS):c.646C>T (p.Arg216Cys)

SNV
Germline

Chr16:31185061

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 6
Tremor, hereditary essential, 4
Condition: not provided
not specified
Tremor, hereditary essential, 4
Amyotrophic lateral sclerosis type 6

Criteria Provided
Conflicting Classifications

CA130062

rs_267606832

4 SubmittersRCV000017614 RCV000030719 RCV001588814 RCV002247351 RCV002513082

NM_001097577.3(ANG):c.107A>T (p.Gln36Leu)

SNV
Germline

Chr14:20693671

Pathogenic

Amyotrophic lateral sclerosis type 9

No Assertion Criteria Provided

CA258088

rs_121909535

1 SubmittersRCV000019699

NM_001097577.3(ANG):c.122A>T (p.Lys41Ile)

SNV
Germline

Chr14:20693686

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 9
Condition: not provided
not specified
ANG-related disorder

Criteria Provided
Conflicting Classifications

CA258091

rs_121909536

8 SubmittersRCV000019700 RCV000517735 RCV001642231 RCV003934843

NM_001097577.3(ANG):c.121A>G (p.Lys41Glu)

SNV
Germline

Chr14:20693685

Pathogenic

Amyotrophic lateral sclerosis type 9

No Assertion Criteria Provided

CA258094

rs_121909537

1 SubmittersRCV000019701

NM_001097577.3(ANG):c.164G>A (p.Arg55Lys)

SNV
Germline

Chr14:20693728

Pathogenic

Amyotrophic lateral sclerosis type 9

No Assertion Criteria Provided

CA258097

rs_121909538

1 SubmittersRCV000019702

NM_001097577.3(ANG):c.189C>G (p.Cys63Trp)

SNV
Germline

Chr14:20693753

Pathogenic

Amyotrophic lateral sclerosis type 9

No Assertion Criteria Provided

CA258100

rs_121909539

1 SubmittersRCV000019703

NM_001097577.3(ANG):c.191A>T (p.Lys64Ile)

SNV
Germline

Chr14:20693755

Pathogenic

Amyotrophic lateral sclerosis type 9

No Assertion Criteria Provided

CA258103

rs_121909540

1 SubmittersRCV000019704

NM_001097577.3(ANG):c.208A>G (p.Ile70Val)

SNV
Germline

Chr14:20693772

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 9
Condition: not provided
not specified
ANG-related disorder

Criteria Provided
Conflicting Classifications

CA258106

rs_121909541

10 SubmittersRCV000019705 RCV000335176 RCV001659725 RCV003974847

NM_001097577.3(ANG):c.155G>A (p.Ser52Asn)

SNV
Germline

Chr14:20693719

Likely pathogenic

Amyotrophic lateral sclerosis type 9

Criteria Provided
Single Submitter

CA258109

rs_121909542

2 SubmittersRCV000019706

NM_001097577.3(ANG):c.409G>A (p.Val137Ile)

SNV
Germline

Chr14:20693973

Pathogenic

Amyotrophic lateral sclerosis type 9

No Assertion Criteria Provided

CA258115

rs_121909544

1 SubmittersRCV000019708

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_007375.4(TARDBP):c.1035C>A (p.Asn345Lys)

SNV
Germline

Chr1:11022444

Pathogenic

TARDBP-related frontotemporal dementia
Amyotrophic lateral sclerosis type 10

Criteria Provided
Single Submitter

rs_80356732

1 SubmittersRCV000703167

NM_007375.4(TARDBP):c.1055A>G (p.Asn352Ser)

SNV
Germline

Chr1:11022464

Pathogenic/Likely pathogenic

Amyotrophic lateral sclerosis type 10
Condition: not provided
TARDBP-related frontotemporal dementia
Amyotrophic lateral sclerosis type 10

Criteria Provided
Multiple Submitters
No Conflicts

CA17876354

rs_80356734

8 SubmittersRCV000020657 RCV000993301 RCV001851975

NM_007375.4(TARDBP):c.1144G>A (p.Ala382Thr)

SNV
Germline

Chr1:11022553

Pathogenic/Likely pathogenic

Amyotrophic lateral sclerosis type 10
FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, TARDBP-RELATED
Condition: not provided
TARDBP-related frontotemporal dementia
Amyotrophic lateral sclerosis type 10
TARDBP-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA150788

rs_367543041

7 SubmittersRCV000020663 RCV000106321 RCV000413910 RCV002513146 RCV003944833

NM_007375.4(TARDBP):c.1147A>G (p.Ile383Val)

SNV
Germline

Chr1:11022556

Pathogenic/Likely pathogenic

Condition: not provided
Amyotrophic lateral sclerosis type 10
TARDBP-related frontotemporal dementia
Amyotrophic lateral sclerosis type 10
See cases

Criteria Provided
Multiple Submitters
No Conflicts

rs_80356740

11 SubmittersRCV001579671 RCV000995885 RCV001851976 RCV002251918

NM_007375.4(TARDBP):c.1168A>G (p.Asn390Asp)

SNV
Germline

Chr1:11022577

Conflicting classifications of pathogenicity

Condition: not provided
TARDBP-related frontotemporal dementia
Amyotrophic lateral sclerosis type 10
TARDBP-related disorder

Criteria Provided
Conflicting Classifications

rs_80356741

3 SubmittersRCV001570554 RCV003764614 RCV003407351

NM_007375.4(TARDBP):c.1169A>G (p.Asn390Ser)

SNV
Germline

Chr1:11022578

Conflicting classifications of pathogenicity

Condition: not provided
TARDBP-related frontotemporal dementia
Amyotrophic lateral sclerosis type 10
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_80356742

3 SubmittersRCV001732914 RCV001861034 RCV002329720

NM_007375.4(TARDBP):c.269C>T (p.Ala90Val)

SNV
Germline

Chr1:11016874

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 10
TARDBP-related frontotemporal dementia
Amyotrophic lateral sclerosis type 10
Condition: not provided
Inborn genetic diseases
TARDBP-related disorder

Criteria Provided
Conflicting Classifications

CA586343

rs_80356715

8 SubmittersRCV000020670 RCV000821536 RCV001311624 RCV002426513 RCV003924849

NM_007375.4(TARDBP):c.800A>G (p.Asn267Ser)

SNV
Germline

Chr1:11022209

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 10
TARDBP-related frontotemporal dementia
Amyotrophic lateral sclerosis type 10
Frontotemporal lobar degeneration, TARDBP-related
TARDBP-related disorder
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA586454

rs_80356718

7 SubmittersRCV000020671 RCV001851977 RCV002051795 RCV003904854 RCV003242964 RCV004546414

NM_007375.4(TARDBP):c.859G>A (p.Gly287Ser)

SNV
Germline

Chr1:11022268

Pathogenic/Likely pathogenic

Amyotrophic lateral sclerosis type 10
Condition: not provided
Motor neuron disease
TARDBP-related frontotemporal dementia
Amyotrophic lateral sclerosis type 10

Criteria Provided
Multiple Submitters
No Conflicts

CA586459

rs_80356719

6 SubmittersRCV000020672 RCV000412864 RCV000492328 RCV000529539

NM_007375.4(TARDBP):c.881G>T (p.Gly294Val)

SNV
Germline

Chr1:11022290

Pathogenic

TARDBP-related frontotemporal dementia
Amyotrophic lateral sclerosis type 10
Condition: not provided
Amyotrophic lateral sclerosis type 10

Criteria Provided
Multiple Submitters
No Conflicts

CA342121

rs_80356721

4 SubmittersRCV001390939 RCV002472934 RCV000020673

NM_007375.4(TARDBP):c.883G>A (p.Gly295Ser)

SNV
Germline

Chr1:11022292

Pathogenic

Amyotrophic lateral sclerosis type 10
TARDBP-related frontotemporal dementia
Amyotrophic lateral sclerosis type 10

Criteria Provided
Single Submitter

CA342123

rs_80356723

3 SubmittersRCV000020674 RCV003764615

NM_007375.4(TARDBP):c.883G>C (p.Gly295Arg)

SNV
Germline

Chr1:11022292

Conflicting classifications of pathogenicity

Condition: not provided
TARDBP-related frontotemporal dementia
Amyotrophic lateral sclerosis type 10

Criteria Provided
Conflicting Classifications

rs_80356723

2 SubmittersRCV002474373 RCV002569399

NM_007375.4(TARDBP):c.931A>G (p.Met311Val)

SNV
Germline

Chr1:11022340

Likely pathogenic

TARDBP-related frontotemporal dementia
Amyotrophic lateral sclerosis type 10
Amyotrophic lateral sclerosis type 10
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_80356725

3 SubmittersRCV000694078 RCV003334377 RCV003311663

NM_004960.4(FUS):c.1483C>T (p.Arg495Ter)

SNV
Germline

Chr16:31191052

Pathogenic

Amyotrophic lateral sclerosis type 6
Condition: not provided
Amyotrophic lateral sclerosis type 6
Tremor, hereditary essential, 4

Criteria Provided
Multiple Submitters
No Conflicts

CA259631

rs_387906627

4 SubmittersRCV000022556 RCV002247377 RCV003764624

NM_004960.4(FUS):c.616G>A (p.Gly206Ser)

SNV
Germline

Chr16:31185031

Pathogenic

Amyotrophic lateral sclerosis type 6

No Assertion Criteria Provided

CA259634

rs_387906628

1 SubmittersRCV000022557

NM_013444.4(UBQLN2):c.1490C>A (p.Pro497His)

SNV
Germline

ChrX:56565363

Pathogenic

Amyotrophic lateral sclerosis type 15

Criteria Provided
Single Submitter

CA259703

rs_387906709

2 SubmittersRCV000022842

NM_013444.4(UBQLN2):c.1489C>T (p.Pro497Ser)

SNV
Germline

ChrX:56565362

Pathogenic

Amyotrophic lateral sclerosis type 15

Criteria Provided
Single Submitter

CA259705

rs_387906710

2 SubmittersRCV000022843

NM_013444.4(UBQLN2):c.1516C>A (p.Pro506Thr)

SNV
Germline

ChrX:56565389

Pathogenic

Amyotrophic lateral sclerosis type 15

No Assertion Criteria Provided

CA259707

rs_387906711

1 SubmittersRCV000022844

NM_013444.4(UBQLN2):c.1573C>T (p.Pro525Ser)

SNV
Germline

ChrX:56565446

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 15
Amyotrophic lateral sclerosis
Condition: not provided
UBQLN2-related disorder

Criteria Provided
Conflicting Classifications

CA259711

rs_369947678

8 SubmittersRCV000022846 RCV000625776 RCV003441723 RCV003944836

NM_007126.5(VCP):c.475C>G (p.Arg159Gly)

SNV
Germline

Chr9:35065352

Pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 6

No Assertion Criteria Provided

CA259748

rs_387906789

1 SubmittersRCV000023065

NM_007126.5(VCP):c.1774G>A (p.Asp592Asn)

SNV
Germline

Chr9:35059723

Pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 6

No Assertion Criteria Provided

CA128985

rs_387906790

1 SubmittersRCV000023066

NM_005866.4(SIGMAR1):c.304G>C (p.Glu102Gln)

SNV
Germline

Chr9:34637268

Pathogenic

Amyotrophic lateral sclerosis type 16
Autosomal recessive distal spinal muscular atrophy 2
Amyotrophic lateral sclerosis type 16
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA259767

rs_387906829

3 SubmittersRCV000023162 RCV001852015 RCV002444439

NM_004738.5(VAPB):c.137C>T (p.Thr46Ile)

SNV
Germline

Chr20:58418289

Pathogenic

Amyotrophic lateral sclerosis type 8
Condition: not provided

No Assertion Criteria Provided

CA219846

rs_281875284

2 SubmittersRCV000023467 RCV000059634

NM_014043.4(CHMP2B):c.311C>A (p.Thr104Asn)

SNV
Germline

Chr3:87245898

Pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 7

No Assertion Criteria Provided

CA260074

rs_281864934

2 SubmittersRCV000055937

NM_005022.4(PFN1):c.211T>G (p.Cys71Gly)

SNV
Germline

Chr17:4946742

Pathogenic

Amyotrophic lateral sclerosis type 18

No Assertion Criteria Provided

CA260575

rs_387907264

1 SubmittersRCV000030694

NM_005022.4(PFN1):c.341T>C (p.Met114Thr)

SNV
Germline

Chr17:4945982

Pathogenic

Amyotrophic lateral sclerosis type 18
Condition: not provided

Criteria Provided
Single Submitter

CA260576

rs_387907265

2 SubmittersRCV000030695 RCV001852610

NM_005022.4(PFN1):c.353G>T (p.Gly118Val)

SNV
Germline

Chr17:4945970

Pathogenic

Amyotrophic lateral sclerosis type 18

No Assertion Criteria Provided

CA260577

rs_387907266

1 SubmittersRCV000030696

NM_004960.4(FUS):c.1292C>T (p.Pro431Leu)

SNV
Germline

Chr16:31190398

Conflicting classifications of pathogenicity

Tremor, hereditary essential, 4
Tremor, hereditary essential, 4
Amyotrophic lateral sclerosis type 6
Condition: not provided
Frontotemporal dementia
Amyotrophic lateral sclerosis
Inborn genetic diseases
FUS-related disorder

Criteria Provided
Conflicting Classifications

CA130060

rs_186547381

8 SubmittersRCV000030718 RCV000765290 RCV000711709 RCV001847624 RCV003993752 RCV002381274 RCV003407373

NM_006070.6(TFG):c.854C>T (p.Pro285Leu)

SNV
Germline

Chr3:100748182

Pathogenic/Likely pathogenic

Hereditary motor and sensory neuropathy, Okinawa type
Condition: not provided
Hereditary spastic paraplegia 57
Hereditary motor and sensory neuropathy, Okinawa type
Amyotrophic Lateral Sclerosis with Sensory Neuropathy
See cases

Criteria Provided
Multiple Submitters
No Conflicts

CA130077

rs_207482230

7 SubmittersRCV000030736 RCV000218755 RCV000642397 RCV001095428 RCV002251934

NM_025137.4(SPG11):c.2198T>G (p.Leu733Ter)

SNV
Germline

Chr15:44626377

Pathogenic

Hereditary spastic paraplegia 11
Amyotrophic lateral sclerosis type 5

No Assertion Criteria Provided

CA277006

rs_312262739

2 SubmittersRCV000034188 RCV000192703

NM_025137.4(SPG11):c.267G>A (p.Trp89Ter)

SNV
Germline

Chr15:44660607

Pathogenic

Hereditary spastic paraplegia 11
Amyotrophic lateral sclerosis type 5
Condition: not provided
Charcot-Marie-Tooth disease axonal type 2X

Criteria Provided
Multiple Submitters
No Conflicts

CA277361

rs_312262709

8 SubmittersRCV000034195 RCV000194703 RCV001569808 RCV003883485

NM_025137.4(SPG11):c.2834+1G>T

SNV
Germline

Chr15:44620189

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 11
Condition: not provided
Amyotrophic lateral sclerosis type 5

Criteria Provided
Multiple Submitters
No Conflicts

CA344329

rs_312262749

7 SubmittersRCV000034200 RCV001836722 RCV003458191

NM_025137.4(SPG11):c.5974C>T (p.Arg1992Ter)

SNV
Germline

Chr15:44574934

Pathogenic

Hereditary spastic paraplegia 11
Amyotrophic lateral sclerosis type 5
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA277266

rs_200793464

4 SubmittersRCV000034234 RCV000194146 RCV000255514

NM_025137.4(SPG11):c.6091C>T (p.Arg2031Ter)

SNV
Germline

Chr15:44573661

Pathogenic

Hereditary spastic paraplegia 11
Amyotrophic lateral sclerosis type 5
Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA344370

rs_147713329

10 SubmittersRCV000034241 RCV001331384 RCV001092496 RCV001847636

NM_025137.4(SPG11):c.6157G>A (p.Val2053Met)

SNV
Germline

Chr15:44573595

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Condition: not provided
Amyotrophic lateral sclerosis type 5
Charcot-Marie-Tooth disease axonal type 2X
Charcot-Marie-Tooth disease axonal type 2X
Amyotrophic lateral sclerosis type 5
Hereditary spastic paraplegia 11

Criteria Provided
Conflicting Classifications

CA344372

rs_149003934

7 SubmittersRCV000034242 RCV000594035 RCV002467533 RCV002467534 RCV002477051

NM_025137.4(SPG11):c.6477+4A>G

SNV
Germline

Chr15:44570521

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Amyotrophic lateral sclerosis type 5
Charcot-Marie-Tooth disease axonal type 2X
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA344377

rs_312262780

5 SubmittersRCV000034246 RCV002467535 RCV002467536 RCV001847637

NM_003119.4(SPG7):c.1529C>T (p.Ala510Val)

SNV
Germline

Chr16:89546737

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 7
Condition: not provided
Spastic Paraplegia, Recessive
Hereditary spastic paraplegia
Inborn genetic diseases
Dysarthria
Spastic paraparesis
Gait ataxia
Cerebral cortical atrophy
Optic nerve hypoplasia
Intellectual disability
Spastic ataxia
Sensorimotor neuropathy
SPG7-related disorder
Frontotemporal dementia and/or amyotrophic lateral sclerosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA090884

rs_61755320

55 SubmittersRCV000034858 RCV000195683 RCV000270813 RCV000515835 RCV000623796 RCV000626837 RCV000677252 RCV000850200 RCV001003619 RCV003421943 RCV002463623

NM_014845.6(FIG4):c.311G>A (p.Gly104Asp)

SNV
Germline

Chr6:109727130

Conflicting classifications of pathogenicity

Yunis-Varon syndrome
Amyotrophic lateral sclerosis

No Assertion Criteria Provided

CA143922

rs_397509395

2 SubmittersRCV000043690 RCV003447105

NM_014845.6(FIG4):c.524T>C (p.Leu175Pro)

SNV
Germline

Chr6:109735176

Conflicting classifications of pathogenicity

Yunis-Varon syndrome
Amyotrophic lateral sclerosis

No Assertion Criteria Provided

CA143925

rs_397514707

2 SubmittersRCV000043692 RCV003447107

NM_005235.3(ERBB4):c.2780G>A (p.Arg927Gln)

SNV
Germline

Chr2:211424241

Pathogenic

Condition: not provided
Amyotrophic lateral sclerosis type 19

No Assertion Criteria Provided

CA216500

rs_397514262

2 SubmittersRCV000054812 RCV000074382

NM_005235.3(ERBB4):c.3823C>T (p.Arg1275Trp)

SNV
Germline

Chr2:211383719

Conflicting classifications of pathogenicity

Condition: not provided
Amyotrophic lateral sclerosis type 19

Criteria Provided
Conflicting Classifications

CA216502

rs_397514263

4 SubmittersRCV000054813 RCV000074383

NM_031157.4(HNRNPA1):c.940G>A (p.Asp314Asn)

SNV
Germline

Chr12:54283844

Likely pathogenic

Amyotrophic lateral sclerosis type 20
Condition: not provided

Criteria Provided
Single Submitter

CA264779

rs_397518453

2 SubmittersRCV000055650 RCV001781389

NM_014043.4(CHMP2B):c.532-1G>C

SNV
Germline

Chr3:87253711

Pathogenic

Condition: not provided
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7

No Assertion Criteria Provided

CA224977

rs_63750652

2 SubmittersRCV000084277 RCV002055246

NM_002087.4(GRN):c.1252C>T (p.Arg418Ter)

SNV
Germline

Chr17:44352087

Pathogenic

Condition: not provided
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
Neuronal ceroid lipofuscinosis 11
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
Amyotrophic lateral sclerosis type 10

Criteria Provided
Multiple Submitters
No Conflicts

CA225327

rs_63751180

9 SubmittersRCV000084480 RCV000995559 RCV001390599 RCV002463638

NM_000744.7(CHRNA4):c.442C>T (p.Arg148Trp)

SNV
Germline/somatic

Chr20:63350969

Conflicting classifications of pathogenicity

Tobacco use disorder
Condition: not provided
Inborn genetic diseases
Autosomal dominant nocturnal frontal lobe epilepsy
Amyotrophic lateral sclerosis
not specified

Criteria Provided
Conflicting Classifications

CA150428

rs_121912243

6 SubmittersRCV000084614 RCV000186922 RCV000190688 RCV000654323 RCV001095406 RCV001844035

NM_020919.4(ALS2):c.2761C>T (p.Arg921Ter)

SNV
Germline

Chr2:201728592

Pathogenic/Likely pathogenic

Infantile-onset ascending hereditary spastic paralysis
Amyotrophic lateral sclerosis type 2, juvenile
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA236114

rs_587777132

4 SubmittersRCV000087053 RCV001095478 RCV000171328

NM_213720.3(CHCHD10):c.176C>T (p.Ser59Leu)

SNV
Germline

Chr22:23767459

Pathogenic/Likely pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 2
Autosomal dominant mitochondrial myopathy with exercise intolerance
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA163486

rs_587777574

5 SubmittersRCV000128857 RCV000192232 RCV001268565

NM_015046.7(SETX):c.1504C>T (p.Arg502Trp)

SNV
Germline

Chr9:132330094

Conflicting classifications of pathogenicity

Condition: not provided
Amyotrophic lateral sclerosis type 4
Charcot-Marie-Tooth disease
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4

Criteria Provided
Conflicting Classifications

CA233090

rs_534723946

8 SubmittersRCV000143813 RCV000626102 RCV000790203 RCV000791025 RCV001523409

NM_015046.7(SETX):c.1869A>C (p.Glu623Asp)

SNV
Germline

Chr9:132329729

Conflicting classifications of pathogenicity

Condition: not provided
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Inborn genetic diseases
SETX-related disorder

Criteria Provided
Conflicting Classifications

CA233093

rs_139200312

7 SubmittersRCV000143814 RCV000794428 RCV002408640 RCV004544322

NM_015046.7(SETX):c.4225A>T (p.Asn1409Tyr)

SNV
Germline

Chr9:132327373

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Charcot-Marie-Tooth disease
Amyotrophic lateral sclerosis type 4
Inborn genetic diseases
SETX-related disorder

Criteria Provided
Conflicting Classifications

CA233099

rs_373375060

9 SubmittersRCV000143816 RCV001002069 RCV001041860 RCV001167322 RCV000790204 RCV000988270 RCV002326848 RCV004532621

NM_015046.7(SETX):c.4273A>G (p.Lys1425Glu)

SNV
Germline

Chr9:132327325

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA233102

rs_534886444

9 SubmittersRCV000143817 RCV000790205 RCV001049421 RCV000988269 RCV002326849

NM_015046.7(SETX):c.7640T>C (p.Ile2547Thr)

SNV
Germline

Chr9:132264633

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Hereditary spastic paraplegia
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis

Criteria Provided
Conflicting Classifications

CA233108

rs_151117904

14 SubmittersRCV000143819 RCV000251546 RCV000302102 RCV000393538 RCV001847770 RCV001080640 RCV001260210

NM_015046.7(SETX):c.3809C>T (p.Pro1270Leu)

SNV
Germline

Chr9:132327789

Conflicting classifications of pathogenicity

Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Condition: not provided
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Inborn genetic diseases
SETX-related disorder

Criteria Provided
Conflicting Classifications

CA048312

rs_144334281

11 SubmittersRCV000385882 RCV000329054 RCV000644851 RCV001084313 RCV002356315 RCV004532973

NM_006000.3(TUBA4A):c.958C>T (p.Arg320Cys)

SNV
Germline

Chr2:219250741

Likely pathogenic

Amyotrophic lateral sclerosis type 22
Condition: not provided

Criteria Provided
Single Submitter

CA185899

rs_730880025

2 SubmittersRCV000157034 RCV003227679

NM_006000.3(TUBA4A):c.959G>A (p.Arg320His)

SNV
Germline

Chr2:219250740

Pathogenic

Amyotrophic lateral sclerosis type 22

No Assertion Criteria Provided

CA185900

rs_730880026

1 SubmittersRCV000157035

NM_006000.3(TUBA4A):c.1220G>A (p.Trp407Ter)

SNV
Germline

Chr2:219250479

Pathogenic

Amyotrophic lateral sclerosis type 22

No Assertion Criteria Provided

CA185901

rs_730880027

1 SubmittersRCV000157036

NM_006000.3(TUBA4A):c.643C>T (p.Arg215Cys)

SNV
Germline

Chr2:219251056

Pathogenic

Amyotrophic lateral sclerosis 22 with frontotemporal dementia

No Assertion Criteria Provided

CA185903

rs_730880028

1 SubmittersRCV000157037

NM_006000.3(TUBA4A):c.1147G>A (p.Ala383Thr)

SNV
Germline

Chr2:219250552

Pathogenic

Amyotrophic lateral sclerosis type 22

No Assertion Criteria Provided

CA185904

rs_368743618

1 SubmittersRCV000157038

NM_006000.3(TUBA4A):c.433A>C (p.Thr145Pro)

SNV
Germline

Chr2:219251266

Pathogenic

Amyotrophic lateral sclerosis type 22

No Assertion Criteria Provided

CA185905

rs_730880029

1 SubmittersRCV000157039

NM_213720.3(CHCHD10):c.44G>T (p.Arg15Leu)

SNV
Germline

Chr22:23767591

Pathogenic

Condition: not provided
Autosomal dominant mitochondrial myopathy with exercise intolerance
Lower motor neuron syndrome with late-adult onset
Frontotemporal dementia and/or amyotrophic lateral sclerosis 2
Autosomal dominant mitochondrial myopathy with exercise intolerance
Frontotemporal dementia and/or amyotrophic lateral sclerosis 2

Criteria Provided
Multiple Submitters
No Conflicts

CA235291

rs_730880030

4 SubmittersRCV000157069 RCV000804540 RCV001731147 RCV002463652

NM_020919.4(ALS2):c.2002G>T (p.Gly668Ter)

SNV
Germline

Chr2:201744426

Pathogenic

Amyotrophic lateral sclerosis type 2, juvenile

No Assertion Criteria Provided

CA273787

rs_730882255

1 SubmittersRCV000162071

NM_007375.4(TARDBP):c.1150G>C (p.Gly384Arg)

SNV
Germline

Chr1:11022559

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 10
Condition: not provided
Amyotrophic lateral sclerosis type 10
TARDBP-related frontotemporal dementia

Criteria Provided
Conflicting Classifications

CA347247

rs_797044594

3 SubmittersRCV000192195 RCV000713823 RCV000795453

NM_004738.5(VAPB):c.656G>T (p.Gly219Val)

SNV
Germline

Chr20:58444159

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Amyotrophic lateral sclerosis type 8
Adult-onset proximal spinal muscular atrophy, autosomal dominant

Criteria Provided
Conflicting Classifications

CA236153

rs_786205553

4 SubmittersRCV000171347 RCV000514140 RCV002254543

NM_025137.4(SPG11):c.3037A>G (p.Lys1013Glu)

SNV
Germline

Chr15:44615364

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 11
Amyotrophic lateral sclerosis
Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA201295

rs_111347025

14 SubmittersRCV000175101 RCV000204165 RCV001260215 RCV002262769 RCV001847810

NM_000454.5(SOD1):c.341T>C (p.Ile114Thr)

SNV
Germline

Chr21:31667359

Pathogenic/Likely pathogenic

Amyotrophic lateral sclerosis type 1
Condition: not provided
Motor neuron disease
SOD1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA275244

rs_121912441

10 SubmittersRCV000178103 RCV000255754 RCV000492500 RCV003398894

NM_001199397.3(NEK1):c.782G>A (p.Arg261His)

SNV
Germline

Chr4:169585374

Conflicting classifications of pathogenicity

not specified
Motor neuron disease
Condition: not provided
Short-rib thoracic dysplasia 6 with or without polydactyly
Amyotrophic lateral sclerosis, susceptibility to, 24
NEK1-related disorder

Criteria Provided
Conflicting Classifications

CA203762

rs_200161705

9 SubmittersRCV000180637 RCV000492285 RCV000659006 RCV001086419 RCV002287889 RCV003917685

NM_003900.5(SQSTM1):c.1160C>T (p.Pro387Leu)

SNV
Germline

Chr5:179833777

Conflicting classifications of pathogenicity

Frontotemporal dementia and/or amyotrophic lateral sclerosis 3
Condition: not provided
Paget disease of bone 2, early-onset
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1

Criteria Provided
Conflicting Classifications

CA203868

rs_776749939

3 SubmittersRCV000184065 RCV000481808 RCV001323701

NM_025137.4(SPG11):c.1270C>A (p.Pro424Thr)

SNV
Germline

Chr15:44651677

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Hereditary spastic paraplegia
Inborn genetic diseases
Condition: not provided
Amyotrophic lateral sclerosis type 5
Charcot-Marie-Tooth disease axonal type 2X

Criteria Provided
Conflicting Classifications

CA275497

rs_141596008

7 SubmittersRCV000185539 RCV001847822 RCV002372141 RCV001508762 RCV002467649 RCV002467650

NM_013254.4(TBK1):c.2138+2T>C

SNV
Germline

Chr12:64498041

Pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
Condition: not provided

Criteria Provided
Single Submitter

CA10575728

rs_876657406

2 SubmittersRCV000185597 RCV001532209

NM_013254.4(TBK1):c.1340+1G>A

SNV
Germline

Chr12:64486018

Pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 4

No Assertion Criteria Provided

CA6669037

rs_767898276

1 SubmittersRCV000185599

NM_013254.4(TBK1):c.2086G>A (p.Glu696Lys)

SNV
Germline

Chr12:64497987

Pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 4

No Assertion Criteria Provided

CA203889

rs_748112833

1 SubmittersRCV000185600

NM_213720.3(CHCHD10):c.239C>T (p.Pro80Leu)

SNV
Germline

Chr22:23767396

Conflicting classifications of pathogenicity

Frontotemporal dementia and/or amyotrophic lateral sclerosis 2
Lower motor neuron syndrome with late-adult onset
Frontotemporal dementia and/or amyotrophic lateral sclerosis 2
Autosomal dominant mitochondrial myopathy with exercise intolerance
Lower motor neuron syndrome with late-adult onset
Condition: not provided
Amyotrophic lateral sclerosis
Inborn genetic diseases
CHCHD10-related disorder

Criteria Provided
Conflicting Classifications

CA347297

rs_775332895

8 SubmittersRCV000192233 RCV000558062 RCV000990378 RCV001092755 RCV002221211 RCV002453685 RCV003927730

NM_001199397.3(NEK1):c.3107C>G (p.Ser1036Ter)

SNV
Germline

Chr4:169424668

Pathogenic/Likely pathogenic

Short-rib thoracic dysplasia 6 with or without polydactyly
Amyotrophic lateral sclerosis, susceptibility to, 24
Condition: not provided
Short-rib thoracic dysplasia 6 with or without polydactyly
Amyotrophic lateral sclerosis, susceptibility to, 24
NEK1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA210638

rs_199947197

12 SubmittersRCV000190609 RCV000585742 RCV000519626 RCV000763117 RCV003947589

NM_003384.3(VRK1):c.961C>T (p.Arg321Cys)

SNV
Germline

Chr14:96860628

Conflicting classifications of pathogenicity

Pontocerebellar hypoplasia type 1A
Juvenile amyotrophic lateral sclerosis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA250406

rs_772731615

5 SubmittersRCV000191144 RCV001095537 RCV001705076

NM_025137.4(SPG11):c.7132T>C (p.Phe2378Leu)

SNV
Germline

Chr15:44564566

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
not specified
Intellectual disability
Amyotrophic lateral sclerosis type 5
Hereditary spastic paraplegia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA337736

rs_150571352

7 SubmittersRCV000198221 RCV000609376 RCV001252105 RCV001331387 RCV001847903 RCV002363018

NM_025137.4(SPG11):c.16G>A (p.Gly6Arg)

SNV
Germline

Chr15:44663632

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 11
Amyotrophic lateral sclerosis
Amyotrophic lateral sclerosis type 5
Hereditary spastic paraplegia
Inborn genetic diseases
SPG11-related disorder

Criteria Provided
Conflicting Classifications

CA337596

rs_200573434

11 SubmittersRCV000713414 RCV001086819 RCV001260214 RCV001336692 RCV001847902 RCV002399751 RCV003917821

NM_007126.5(VCP):c.463C>G (p.Arg155Gly)

SNV
Germline

Chr9:35065364

Pathogenic/Likely pathogenic

Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1
Condition: not provided
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia

Criteria Provided
Multiple Submitters
No Conflicts

CA277489

rs_121909330

3 SubmittersRCV000196145 RCV000494556 RCV002229498

NM_020919.4(ALS2):c.4261C>T (p.Arg1421Ter)

SNV
Unknown

Chr2:201709900

Likely pathogenic

Infantile-onset ascending hereditary spastic paralysis
Juvenile primary lateral sclerosis
Amyotrophic lateral sclerosis type 2, juvenile
Infantile-onset ascending hereditary spastic paralysis

Criteria Provided
Multiple Submitters
No Conflicts

rs_863225293

2 SubmittersRCV000986979 RCV002500830

NM_007126.5(VCP):c.271A>T (p.Asn91Tyr)

SNV
Germline

Chr9:35067922

Pathogenic

Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
INCLUSION BODY MYOPATHY WITHOUT EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia

Criteria Provided
Single Submitter

CA279635

rs_863225291

3 SubmittersRCV000201935 RCV001271088 RCV001271081 RCV002519583

NM_007126.5(VCP):c.553G>A (p.Glu185Lys)

SNV
Germline

Chr9:35065274

Likely pathogenic

Charcot-Marie-Tooth disease type 2Y
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA213386

rs_864309501

4 SubmittersRCV000202444 RCV002229147 RCV002345722

NM_007126.5(VCP):c.290G>A (p.Gly97Glu)

SNV
Germline

Chr9:35067903

Pathogenic

Charcot-Marie-Tooth disease type 2Y
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia

Criteria Provided
Single Submitter

CA213389

rs_864309502

2 SubmittersRCV000202492 RCV001853259

NM_025137.4(SPG11):c.1698T>G (p.Asp566Glu)

SNV
Germline

Chr15:44633542

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
not specified
Amyotrophic lateral sclerosis
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA350373

rs_79708848

11 SubmittersRCV000206327 RCV000444113 RCV001260213 RCV001847925

NM_025137.4(SPG11):c.6759C>G (p.Asp2253Glu)

SNV
Germline

Chr15:44566301

Conflicting classifications of pathogenicity

Condition: not provided
Amyotrophic lateral sclerosis
Hereditary spastic paraplegia 11
Hereditary spastic paraplegia
Inborn genetic diseases
SPG11-related disorder

Criteria Provided
Conflicting Classifications

CA7534007

rs_141818132

11 SubmittersRCV000224214 RCV001260212 RCV001085256 RCV001847948 RCV002365166 RCV003919902

NM_020919.4(ALS2):c.2241C>T (p.Tyr747=)

SNV
Germline

Chr2:201741784

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 2, juvenile
ALS2-related disorder
Condition: not provided
Infantile-onset ascending hereditary spastic paralysis
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA2058242

rs_3219160

8 SubmittersRCV000294407 RCV000388670 RCV000756988 RCV001082502 RCV001848004

NM_020919.4(ALS2):c.1115C>G (p.Pro372Arg)

SNV
Germline

Chr2:201757758

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Infantile-onset ascending hereditary spastic paralysis
Amyotrophic lateral sclerosis type 2, juvenile
Juvenile primary lateral sclerosis
ALS2-related disorder
Infantile-onset ascending hereditary spastic paralysis
Amyotrophic lateral sclerosis type 2, juvenile
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA2058513

rs_190369242

8 SubmittersRCV000512695 RCV000516346 RCV000764355 RCV001137184 RCV001082210 RCV001139424 RCV001848003

NM_004984.4(KIF5A):c.2957C>T (p.Pro986Leu)

SNV
Germline

Chr12:57581917

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 10
Condition: not provided
Spastic paraplegia
Amyotrophic lateral sclerosis
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6653261

rs_113247976

11 SubmittersRCV000424199 RCV000625002 RCV000713410 RCV001081669 RCV001260204 RCV001847959

NM_025137.4(SPG11):c.7256A>G (p.Lys2419Arg)

SNV
Germline

Chr15:44563197

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Condition: not provided
not specified
Amyotrophic lateral sclerosis
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA7533839

rs_76116949

14 SubmittersRCV000231950 RCV000514388 RCV000602319 RCV001260218 RCV001848014

NM_025137.4(SPG11):c.1602+10T>G

SNV
Germline

Chr15:44648856

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Condition: not provided
Amyotrophic lateral sclerosis type 5
Charcot-Marie-Tooth disease axonal type 2X

Criteria Provided
Conflicting Classifications

CA7535513

rs_201535432

3 SubmittersRCV000230118 RCV002261019 RCV002467686 RCV002467687

NM_014845.6(FIG4):c.1207C>T (p.Gln403Ter)

SNV
Germline

Chr6:109760319

Pathogenic

Condition: not provided
Charcot-Marie-Tooth disease type 4
Amyotrophic lateral sclerosis

Criteria Provided
Multiple Submitters
No Conflicts

CA10584275

rs_879253926

3 SubmittersRCV000236745 RCV001857797 RCV003447128

NM_006415.4(SPTLC1):c.58G>T (p.Ala20Ser)

SNV
Germline

Chr9:92112562

Pathogenic

Condition: not provided
Amyotrophic lateral sclerosis 27, juvenile

Criteria Provided
Single Submitter

CA10584304

rs_879254294

2 SubmittersRCV000236861 RCV003223342

NM_013254.4(TBK1):c.964C>T (p.His322Tyr)

SNV
Germline

Chr12:64481993

Conflicting classifications of pathogenicity

not specified
Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
TBK1-related disorder

Criteria Provided
Conflicting Classifications

CA6668932

rs_145905497

3 SubmittersRCV000238938 RCV000545768 RCV003930020

NM_003900.5(SQSTM1):c.98C>T (p.Ala33Val)

SNV
Germline

Chr5:179821034

Conflicting classifications of pathogenicity

Frontotemporal dementia and/or amyotrophic lateral sclerosis 3
Paget disease of bone 2, early-onset
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
Paget disease of bone 3
Condition: not provided
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA3600374

rs_200396166

6 SubmittersRCV000184066 RCV000652548 RCV001155398 RCV001636735 RCV002518539 RCV003387820

NM_020919.4(ALS2):c.1816-8C>T

SNV
Germline

Chr2:201746756

Conflicting classifications of pathogenicity

not specified
Amyotrophic lateral sclerosis type 2, juvenile
ALS2-related disorder
Condition: not provided
Infantile-onset ascending hereditary spastic paralysis
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA2058339

rs_185911369

10 SubmittersRCV000251509 RCV000349374 RCV000400905 RCV000710520 RCV001087893 RCV001848038

NM_022173.4(TIA1):c.1070A>G (p.Asn357Ser)

SNV
Germline

Chr2:70212810

Conflicting classifications of pathogenicity

Welander distal myopathy
not specified
Condition: not provided
Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia
TIA1-related disorder

Criteria Provided
Conflicting Classifications

CA1697407

rs_116621885

7 SubmittersRCV000250393 RCV000516506 RCV000859341 RCV003989508 RCV003891965

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_003900.5(SQSTM1):c.924G>A (p.Ala308=)

SNV
Germline

Chr5:179833201

Conflicting classifications of pathogenicity

not specified
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
Paget disease of bone 2, early-onset
Paget disease of bone 2, early-onset
Paget disease of bone 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3600727

rs_139482113

9 SubmittersRCV000242491 RCV000535702 RCV000625252 RCV001154682 RCV001576573

NM_014845.6(FIG4):c.1584-8T>A

SNV
Germline

Chr6:109766721

Conflicting classifications of pathogenicity

not specified
Amyotrophic lateral sclerosis type 11
Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4J
Charcot-Marie-Tooth disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3956144

rs_199522051

8 SubmittersRCV000254421 RCV000275273 RCV000470402 RCV001094996 RCV001173270 RCV000711651

NM_014845.6(FIG4):c.2097-10C>G

SNV
Germline

Chr6:109789584

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Charcot-Marie-Tooth disease type 4
Amyotrophic lateral sclerosis type 11
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4J

Criteria Provided
Conflicting Classifications

CA3956286

rs_142482745

11 SubmittersRCV000253875 RCV000711652 RCV001079241 RCV001154907 RCV001173268 RCV001154908

NM_015046.7(SETX):c.3345C>G (p.Ala1115=)

SNV
Germline

Chr9:132328253

Conflicting classifications of pathogenicity

not specified
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Condition: not provided
Hereditary spastic paraplegia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5297423

rs_142020270

11 SubmittersRCV000252372 RCV001085624 RCV001311796 RCV001848032 RCV002321932

NM_015046.7(SETX):c.2975A>G (p.Lys992Arg)

SNV
Germline

Chr9:132328623

Conflicting classifications of pathogenicity

not specified
Amyotrophic lateral sclerosis type 4
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Spastic paraplegia
Condition: not provided
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA5297507

rs_61742937

14 SubmittersRCV000250229 RCV000387370 RCV000541126 RCV001391479 RCV001706351 RCV001168778 RCV001848031

NM_001008212.2(OPTN):c.489A>G (p.Glu163=)

SNV
Germline

Chr10:13112572

Conflicting classifications of pathogenicity

not specified
Primary open angle glaucoma
Amyotrophic lateral sclerosis type 12
Condition: not provided
Primary open angle glaucoma
Amyotrophic lateral sclerosis type 12
Glaucoma 1, open angle, E

Criteria Provided
Conflicting Classifications

CA5410636

rs_113811959

9 SubmittersRCV000249241 RCV000311095 RCV000365950 RCV000635241 RCV001079510

NM_013444.4(UBQLN2):c.1461C>A (p.Thr487=)

SNV
Germline

ChrX:56565334

Conflicting classifications of pathogenicity

not specified
Amyotrophic Lateral Sclerosis, Dominant
Condition: not provided
Amyotrophic lateral sclerosis type 15

Criteria Provided
Conflicting Classifications

CA10430171

rs_45559331

10 SubmittersRCV000241665 RCV000399814 RCV000547371 RCV001079580

NM_003900.5(SQSTM1):c.286C>T (p.Arg96Ter)

SNV
Germline

Chr5:179823038

Pathogenic

Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
Paget disease of bone 2, early-onset

Criteria Provided
Multiple Submitters
No Conflicts

CA10588825

rs_886039782

4 SubmittersRCV000256198 RCV001062487

NM_001199397.3(NEK1):c.1137T>A (p.Asp379Glu)

SNV
Germline

Chr4:169561835

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis, susceptibility to, 24
Motor neuron disease
Condition: not provided
Short-rib thoracic dysplasia 6 with or without polydactyly
NEK1-related disorder

Criteria Provided
Conflicting Classifications

CA3137845

rs_372585344

7 SubmittersRCV000280217 RCV000492702 RCV000659005 RCV002518774 RCV003409388

NM_001008212.2(OPTN):c.941A>T (p.Gln314Leu)

SNV
Germline

Chr10:13124053

Conflicting classifications of pathogenicity

Motor neuron disease
Glaucoma 1, open angle, E
Amyotrophic lateral sclerosis type 12
Primary open angle glaucoma
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5410811

rs_142812715

5 SubmittersRCV000492386 RCV000557693 RCV002374436 RCV002059063

NM_013254.4(TBK1):c.452C>T (p.Ser151Phe)

SNV
Germline

Chr12:64466994

Conflicting classifications of pathogenicity

Motor neuron disease
Frontotemporal dementia and/or amyotrophic lateral sclerosis 4

Criteria Provided
Conflicting Classifications

CA6668820

rs_55824172

2 SubmittersRCV000492091 RCV001855019

NM_013254.4(TBK1):c.829C>G (p.Leu277Val)

SNV
Germline

Chr12:64481858

Conflicting classifications of pathogenicity

Condition: not provided
Motor neuron disease
Frontotemporal dementia and/or amyotrophic lateral sclerosis 4

Criteria Provided
Conflicting Classifications

CA238264724

rs_905184241

3 SubmittersRCV000520272 RCV000492371 RCV001855020

NM_013254.4(TBK1):c.1330C>T (p.Arg444Ter)

SNV
Germline

Chr12:64486007

Pathogenic; other

Motor neuron disease
Condition: not provided
Frontotemporal dementia and/or amyotrophic lateral sclerosis 4

Criteria Provided
Multiple Submitters
No Conflicts

CA6669034

rs_142030898

3 SubmittersRCV000492391 RCV000760460 RCV001859503

NM_001378743.1(CYLD):c.1112C>A (p.Ser371Ter)

SNV
Germline

Chr16:50777915

Pathogenic

Familial cylindromatosis
Condition: not provided
Brooke-Spiegler syndrome
Familial cylindromatosis
Trichoepithelioma, multiple familial, 1
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8

Criteria Provided
Multiple Submitters
No Conflicts

CA10590069

rs_886040872

5 SubmittersRCV000257976 RCV000760471 RCV001814137 RCV003469207

NM_001378743.1(CYLD):c.2299A>T (p.Lys767Ter)

SNV
Germline

Chr16:50792654

Pathogenic

Familial cylindromatosis
Brooke-Spiegler syndrome
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8

Criteria Provided
Multiple Submitters
No Conflicts

CA10590086

rs_886040888

3 SubmittersRCV000257977 RCV002466483 RCV003469208

NM_007126.5(VCP):c.475C>T (p.Arg159Cys)

SNV
Germline

Chr9:35065352

Pathogenic/Likely pathogenic

Condition: not provided
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6

Criteria Provided
Multiple Submitters
No Conflicts

CA5039453

rs_387906789

6 SubmittersRCV000333881 RCV001095425 RCV002229732

NM_015046.7(SETX):c.4816C>T (p.Arg1606Ter)

SNV
Germline

Chr9:132326782

Pathogenic

Condition: not provided
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2

Criteria Provided
Multiple Submitters
No Conflicts

CA5297136

rs_759213174

3 SubmittersRCV000364271 RCV002518808 RCV003233534

NM_007126.5(VCP):c.283C>T (p.Arg95Cys)

SNV
Germline

Chr9:35067910

Conflicting classifications of pathogenicity

Condition: not provided
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1
Amyotrophic lateral sclerosis
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Spastic paraplegia
Inborn genetic diseases
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6

Criteria Provided
Conflicting Classifications

CA10603200

rs_121909332

9 SubmittersRCV000280148 RCV000761344 RCV001095441 RCV001215048 RCV001391611 RCV002436094 RCV004556775

NM_004960.4(FUS):c.1574C>T (p.Pro525Leu)

SNV
Germline

Chr16:31191431

Pathogenic

Condition: not provided
Juvenile amyotrophic lateral sclerosis
Amyotrophic lateral sclerosis type 6
Tremor, hereditary essential, 4
FUS-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA10603390

rs_886041390

6 SubmittersRCV000381069 RCV001095439 RCV001069729 RCV003401225

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

SNV
Germline

Chr2:74376741

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1722488

rs_576198476

6 SubmittersRCV000332896 RCV000765701 RCV002252080 RCV002328763 RCV004529462

NM_007126.5(VCP):c.1584C>T (p.Ala528=)

SNV
Germline

Chr9:35060424

Conflicting classifications of pathogenicity

Condition: not provided
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
not specified
Inborn genetic diseases
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
VCP-related disorder

Criteria Provided
Conflicting Classifications

CA5039215

rs_147623367

13 SubmittersRCV000321351 RCV001168925 RCV001081085 RCV001580089 RCV002401981 RCV001168167 RCV004535294

NM_025137.4(SPG11):c.316G>A (p.Ala106Thr)

SNV
Germline

Chr15:44660558

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 11
Inborn genetic diseases
Amyotrophic lateral sclerosis type 5
Charcot-Marie-Tooth disease axonal type 2X

Criteria Provided
Conflicting Classifications

CA7535871

rs_201842512

6 SubmittersRCV000296854 RCV000692595 RCV002321952 RCV002467713 RCV002467714

NM_007126.5(VCP):c.*4G>T

SNV
Germline

Chr9:35057113

Conflicting classifications of pathogenicity

Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
not specified
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1
Intellectual disability
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5039057

rs_201091341

9 SubmittersRCV000291446 RCV000301970 RCV000376145 RCV001252622 RCV001559813

NM_025137.4(SPG11):c.979C>G (p.Leu327Val)

SNV
Germline

Chr15:44652157

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 11
Inborn genetic diseases
Amyotrophic lateral sclerosis type 5
Charcot-Marie-Tooth disease axonal type 2X

Criteria Provided
Conflicting Classifications

CA7535662

rs_146109825

5 SubmittersRCV000259263 RCV000811912 RCV002379128 RCV002467715 RCV002467716

NM_015046.7(SETX):c.3056C>A (p.Ser1019Tyr)

SNV
Germline

Chr9:132328542

Conflicting classifications of pathogenicity

Condition: not provided
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5297486

rs_749204574

4 SubmittersRCV000321789 RCV001222571 RCV002519195

NM_015046.7(SETX):c.1880T>C (p.Met627Thr)

SNV
Germline

Chr9:132329718

Conflicting classifications of pathogenicity

Condition: not provided
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
SETX-related disorder

Criteria Provided
Conflicting Classifications

CA5297703

rs_199707503

4 SubmittersRCV000272686 RCV001087861 RCV001165957 RCV001165958 RCV004543070

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_007126.5(VCP):c.954C>T (p.Gly318=)

SNV
Germline

Chr9:35062130

Conflicting classifications of pathogenicity

Condition: not provided
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6

Criteria Provided
Conflicting Classifications

CA5039344

rs_377316335

2 SubmittersRCV000338106 RCV001069332

NM_020919.4(ALS2):c.3876G>A (p.Lys1292=)

SNV
Germline

Chr2:201715800

Conflicting classifications of pathogenicity

ALS2-related disorder
Amyotrophic lateral sclerosis type 2, juvenile
Infantile-onset ascending hereditary spastic paralysis

Criteria Provided
Conflicting Classifications

CA2057735

rs_200417604

2 SubmittersRCV000313623 RCV000368212 RCV000863516

NM_020919.4(ALS2):c.2909G>T (p.Gly970Val)

SNV
Germline

Chr2:201727708

Conflicting classifications of pathogenicity

ALS2-related disorder
Amyotrophic lateral sclerosis type 2, juvenile
Infantile-onset ascending hereditary spastic paralysis
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA2058054

rs_375742430

3 SubmittersRCV000316456 RCV000361538 RCV000703570 RCV001848676

NM_020919.4(ALS2):c.2479A>T (p.Thr827Ser)

SNV
Germline

Chr2:201733377

Conflicting classifications of pathogenicity

ALS2-related disorder
Peripheral axonal neuropathy
Infantile-onset ascending hereditary spastic paralysis
Tip-toe gait
not specified
Condition: not provided
Hereditary spastic paraplegia
Amyotrophic lateral sclerosis type 2, juvenile

Criteria Provided
Conflicting Classifications

CA2058171

rs_202219507

8 SubmittersRCV000382737 RCV000414980 RCV000813075 RCV001358657 RCV001289224 RCV001580056 RCV001848678 RCV000328276

NM_020919.4(ALS2):c.3206G>A (p.Gly1069Glu)

SNV
Germline

Chr2:201726526

Conflicting classifications of pathogenicity

ALS2-related disorder
Amyotrophic lateral sclerosis type 2, juvenile
Hereditary spastic paraplegia
Infantile-onset ascending hereditary spastic paralysis
Amyotrophic lateral sclerosis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2057955

rs_200706696

5 SubmittersRCV000261194 RCV000355910 RCV000515815 RCV000863616 RCV001260560 RCV001590976

NM_020919.4(ALS2):c.1677A>G (p.Lys559=)

SNV
Germline

Chr2:201753206

Conflicting classifications of pathogenicity

Amyotrophic Lateral Sclerosis, Recessive
ALS2-related disorder
Infantile-onset ascending hereditary spastic paralysis
Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA2058388

rs_367640165

7 SubmittersRCV000306041 RCV000407711 RCV000546027 RCV001580129 RCV001848679

NM_020919.4(ALS2):c.4416G>A (p.Thr1472=)

SNV
Germline

Chr2:201707010

Conflicting classifications of pathogenicity

ALS2-related disorder
Amyotrophic lateral sclerosis type 2, juvenile
not specified
Infantile-onset ascending hereditary spastic paralysis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2057570

rs_200202953

5 SubmittersRCV000276464 RCV000370877 RCV001289226 RCV000862055 RCV001571366

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

Criteria Provided
Conflicting Classifications

CA10613975

rs_886056332

3 SubmittersRCV000296007 RCV000387824 RCV002450911 RCV002519986

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

Criteria Provided
Conflicting Classifications

CA1721991

rs_764443534

5 SubmittersRCV000308445 RCV000392721 RCV000696804 RCV003969969 RCV002418203

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

Criteria Provided
Conflicting Classifications

CA10615998

rs_886056328

3 SubmittersRCV000298235 RCV000353157 RCV000704940 RCV002348089

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
Perry syndrome
Neuronopathy, distal hereditary motor, type 7B

Criteria Provided
Conflicting Classifications

CA1721587

rs_374049568

2 SubmittersRCV000311315 RCV000392129 RCV002057711

NM_004082.5(DCTN1):c.3146G>A (p.Arg1049Gln)

SNV
Germline

Chr2:74365125

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1721615

rs_72659383

13 SubmittersRCV000333292 RCV000362337 RCV000517373 RCV000550997 RCV001083433 RCV002323545 RCV003932341

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

Criteria Provided
Conflicting Classifications

CA1722613

rs_150204862

5 SubmittersRCV000288698 RCV000327299 RCV000555240 RCV001088611 RCV002356469 RCV003969970

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

Criteria Provided
Conflicting Classifications

CA1721887

rs_754780894

6 SubmittersRCV000278941 RCV000336449 RCV000517874 RCV000555724 RCV000997172 RCV002446597 RCV003418060

NM_014043.4(CHMP2B):c.218C>T (p.Thr73Met)

SNV
Germline

Chr3:87245805

Conflicting classifications of pathogenicity

Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
not specified
CHMP2B-related disorder

Criteria Provided
Conflicting Classifications

CA2500938

rs_192188850

4 SubmittersRCV000390491 RCV000516998 RCV003401367

NM_018834.6(MATR3):c.2504A>G (p.Asn835Ser)

SNV
Germline

Chr5:139329355

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 21
MATR3-related disorder

Criteria Provided
Conflicting Classifications

CA3433486

rs_201165929

4 SubmittersRCV000703755 RCV004544656

NM_018834.6(MATR3):c.1734+11T>G

SNV
Germline

Chr5:139322040

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 21

Criteria Provided
Conflicting Classifications

CA10620309

rs_886059990

2 SubmittersRCV000304798

NM_018834.6(MATR3):c.1879C>G (p.Gln627Glu)

SNV
Germline

Chr5:139322698

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 21
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3433262

rs_772231433

3 SubmittersRCV000260341 RCV004021984

NM_018834.6(MATR3):c.1991A>C (p.Glu664Ala)

SNV
Germline

Chr5:139322810

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 21

Criteria Provided
Conflicting Classifications

CA3433283

rs_139589527

3 SubmittersRCV000878495

NM_018834.6(MATR3):c.2031C>T (p.Asp677=)

SNV
Germline

Chr5:139322850

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 21

Criteria Provided
Conflicting Classifications

CA3433289

rs_557085910

2 SubmittersRCV000330177

NM_003900.5(SQSTM1):c.912G>A (p.Thr304=)

SNV
Germline

Chr5:179833189

Conflicting classifications of pathogenicity

Paget disease of bone 3
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
Paget disease of bone 2, early-onset

Criteria Provided
Conflicting Classifications

CA3600723

rs_370970067

2 SubmittersRCV000398656 RCV002058528

NM_014845.6(FIG4):c.243A>G (p.Lys81=)

SNV
Germline

Chr6:109716522

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 11
Charcot-Marie-Tooth disease type 4J
Charcot-Marie-Tooth disease type 4

Criteria Provided
Conflicting Classifications

CA3955715

rs_200257799

2 SubmittersRCV000291963 RCV000346970 RCV001449133

NM_014845.6(FIG4):c.2547-11A>G

SNV
Germline

Chr6:109825077

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 11
Charcot-Marie-Tooth disease type 4J
Charcot-Marie-Tooth disease type 4

Criteria Provided
Conflicting Classifications

CA3956445

rs_745613994

2 SubmittersRCV000309055 RCV000363623 RCV002061302

NM_014845.6(FIG4):c.2547-5T>G

SNV
Germline

Chr6:109825083

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 11
Charcot-Marie-Tooth disease type 4
Condition: not provided
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4J
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3956446

rs_200267243

8 SubmittersRCV000324185 RCV000475395 RCV000858660 RCV001173264 RCV001095001 RCV002429318

NM_003900.5(SQSTM1):c.612A>G (p.Gly204=)

SNV
Germline

Chr5:179824262

Conflicting classifications of pathogenicity

Paget disease of bone 3
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
Paget disease of bone 2, early-onset

Criteria Provided
Conflicting Classifications

CA10624299

rs_878982215

2 SubmittersRCV000387568 RCV000544510

NM_003900.5(SQSTM1):c.687G>A (p.Ser229=)

SNV
Germline

Chr5:179825159

Conflicting classifications of pathogenicity

Paget disease of bone 3
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
Paget disease of bone 2, early-onset

Criteria Provided
Conflicting Classifications

CA3600618

rs_140341924

2 SubmittersRCV000293194 RCV001365629

NM_014845.6(FIG4):c.262C>T (p.Arg88Ter)

SNV
Germline

Chr6:109716541

Pathogenic

Amyotrophic lateral sclerosis type 11
Charcot-Marie-Tooth disease type 4J
Charcot-Marie-Tooth disease type 4

Criteria Provided
Multiple Submitters
No Conflicts

CA3955720

rs_753207473

4 SubmittersRCV000987758 RCV001729560 RCV001861266

NM_014845.6(FIG4):c.350C>T (p.Ala117Val)

SNV
Germline

Chr6:109727169

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Amyotrophic lateral sclerosis type 11
Charcot-Marie-Tooth disease type 4J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3955749

rs_551339249

3 SubmittersRCV000288549 RCV000343538 RCV001095019 RCV001545776

NM_014845.6(FIG4):c.1272-10C>G

SNV
Germline

Chr6:109762081

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 11
Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4J

Criteria Provided
Conflicting Classifications

CA3956032

rs_201293291

3 SubmittersRCV000260196 RCV000654276 RCV001173514 RCV001095131

NM_014845.6(FIG4):c.1863C>A (p.Thr621=)

SNV
Germline

Chr6:109777034

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 11
not specified
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3956195

rs_201744761

7 SubmittersRCV000381459 RCV000604481 RCV001173281 RCV000545092 RCV001094997 RCV001706587

NM_014845.6(FIG4):c.2568G>T (p.Ser856=)

SNV
Germline

Chr6:109825109

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 11
Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4J
FIG4-related disorder

Criteria Provided
Conflicting Classifications

CA3956457

rs_140055056

3 SubmittersRCV000280997 RCV000317635 RCV001095030 RCV003902376

NM_014845.6(FIG4):c.2223G>T (p.Thr741=)

SNV
Germline

Chr6:109791418

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4J
Amyotrophic lateral sclerosis type 11
Inborn genetic diseases
Charcot-Marie-Tooth disease type 4

Criteria Provided
Conflicting Classifications

CA3956327

rs_181012139

3 SubmittersRCV000312621 RCV000406778 RCV002429317 RCV002524462

NM_014845.6(FIG4):c.2547-4A>G

SNV
Germline

Chr6:109825084

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 11
Charcot-Marie-Tooth disease type 4J
Charcot-Marie-Tooth disease type 4

Criteria Provided
Conflicting Classifications

CA10625700

rs_886060985

2 SubmittersRCV000265862 RCV000360172 RCV001404072

NM_015046.7(SETX):c.*266A>G

SNV
Germline

Chr9:132263973

Conflicting classifications of pathogenicity

Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4

Criteria Provided
Conflicting Classifications

CA10626629

rs_575959163

1 SubmittersRCV000298691 RCV000391273

NM_015046.7(SETX):c.5283A>G (p.Gln1761=)

SNV
Germline

Chr9:132311848

Conflicting classifications of pathogenicity

Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
not specified
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Hereditary spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5297024

rs_139063885

6 SubmittersRCV000284631 RCV000376752 RCV001643106 RCV001080441 RCV001848725 RCV003422370

NM_015046.7(SETX):c.3200C>T (p.Thr1067Ile)

SNV
Germline

Chr9:132328398

Conflicting classifications of pathogenicity

Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5297452

rs_374091487

5 SubmittersRCV000304137 RCV000393561 RCV002523743 RCV001810866 RCV002323570

NM_015046.7(SETX):c.2469C>G (p.Phe823Leu)

SNV
Germline

Chr9:132329129

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
not specified
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4

Criteria Provided
Conflicting Classifications

CA5297588

rs_141163823

3 SubmittersRCV000337733 RCV000375508 RCV001662354 RCV001509826

NM_007126.5(VCP):c.1360-6T>C

SNV
Germline

Chr9:35060929

Conflicting classifications of pathogenicity

Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia

Criteria Provided
Conflicting Classifications

CA5039263

rs_370296303

2 SubmittersRCV000299794 RCV000354748 RCV003766109

NM_015046.7(SETX):c.7874C>T (p.Pro2625Leu)

SNV
Germline

Chr9:132264399

Conflicting classifications of pathogenicity

Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Condition: not provided
Inborn genetic diseases
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4

Criteria Provided
Conflicting Classifications

CA5296299

rs_553413088

4 SubmittersRCV000299852 RCV000359404 RCV001662350 RCV003372694 RCV003766099

NM_015046.7(SETX):c.7724C>T (p.Pro2575Leu)

SNV
Germline

Chr9:132264549

Conflicting classifications of pathogenicity

Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
not specified
Condition: not provided
Hereditary spastic paraplegia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5296347

rs_34000644

10 SubmittersRCV000300843 RCV000337112 RCV000556745 RCV000507046 RCV001643105 RCV001848723 RCV002402088

NM_015046.7(SETX):c.7287+9C>A

SNV
Germline

Chr9:132269606

Conflicting classifications of pathogenicity

Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4

Criteria Provided
Conflicting Classifications

CA5296454

rs_769170686

2 SubmittersRCV000272756 RCV000327969 RCV002523742

NM_015046.7(SETX):c.6675C>T (p.Tyr2225=)

SNV
Germline

Chr9:132278237

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Inborn genetic diseases
SETX-related disorder
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4

Criteria Provided
Conflicting Classifications

CA5296643

rs_200382898

4 SubmittersRCV000281744 RCV000339149 RCV002365438 RCV004530477 RCV003766100

NM_015046.7(SETX):c.4053A>G (p.Gln1351=)

SNV
Germline

Chr9:132327545

Conflicting classifications of pathogenicity

Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10629234

rs_886063553

2 SubmittersRCV000263119 RCV000355651 RCV002323569

NM_015046.7(SETX):c.3900C>T (p.Ser1300=)

SNV
Germline

Chr9:132327698

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Inborn genetic diseases
Condition: not provided
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4

Criteria Provided
Conflicting Classifications

CA10629236

rs_886063554

4 SubmittersRCV000289144 RCV000381150 RCV002356500 RCV002472997 RCV003766101

NM_015046.7(SETX):c.3117A>G (p.Ile1039Met)

SNV
Germline

Chr9:132328481

Conflicting classifications of pathogenicity

Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
not specified
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4

Criteria Provided
Conflicting Classifications

CA10629238

rs_886063555

3 SubmittersRCV000307504 RCV000364537 RCV000518443 RCV001243853

NM_015046.7(SETX):c.2672T>C (p.Val891Ala)

SNV
Germline

Chr9:132328926

Conflicting classifications of pathogenicity

Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Condition: not provided
Neuronopathy, distal hereditary motor, autosomal dominant
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA5297553

rs_148181729

7 SubmittersRCV000280363 RCV000372562 RCV000644850 RCV000789558 RCV001079301 RCV001848726

NM_015046.7(SETX):c.2003A>G (p.Asn668Ser)

SNV
Germline

Chr9:132329595

Conflicting classifications of pathogenicity

Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4

Criteria Provided
Conflicting Classifications

CA5297681

rs_780898043

3 SubmittersRCV000344541 RCV000390382 RCV000803584

NM_015046.7(SETX):c.9A>G (p.Thr3=)

SNV
Germline

Chr9:132349420

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 4
Inborn genetic diseases
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2

Criteria Provided
Conflicting Classifications

CA5298155

rs_139681694

2 SubmittersRCV000284093 RCV002379258 RCV000378423

NM_001008212.2(OPTN):c.444G>A (p.Val148=)

SNV
Germline

Chr10:13112527

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 12
Inborn genetic diseases
Primary open angle glaucoma
Primary open angle glaucoma
Glaucoma 1, open angle, E
Amyotrophic lateral sclerosis type 12

Criteria Provided
Conflicting Classifications

CA5410625

rs_780011442

3 SubmittersRCV000402060 RCV002328800 RCV000314652 RCV002059530

NM_015046.7(SETX):c.7914C>T (p.Phe2638=)

SNV
Germline

Chr9:132264359

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Condition: not provided
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
not specified

Criteria Provided
Conflicting Classifications

CA5296290

rs_80296256

8 SubmittersRCV000263441 RCV000353602 RCV000876067 RCV001081221 RCV001700364

NM_015046.7(SETX):c.7735G>A (p.Val2579Ile)

SNV
Germline

Chr9:132264538

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Condition: not provided
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5296343

rs_144121978

4 SubmittersRCV000335520 RCV000399643 RCV001509370 RCV001861344 RCV002402087

NM_015046.7(SETX):c.6313C>T (p.Arg2105Trp)

SNV
Germline

Chr9:132288247

Conflicting classifications of pathogenicity

Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5296776

rs_142843968

6 SubmittersRCV000342521 RCV000407208 RCV001358835 RCV001662351 RCV002365439

NM_015046.7(SETX):c.4924C>A (p.Pro1642Thr)

SNV
Germline

Chr9:132326674

Conflicting classifications of pathogenicity

Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2

Criteria Provided
Conflicting Classifications

CA5297106

rs_375942182

2 SubmittersRCV000323303 RCV000380301 RCV002524587

NM_015046.7(SETX):c.1391C>T (p.Ser464Leu)

SNV
Germline

Chr9:132330207

Conflicting classifications of pathogenicity

Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Condition: not provided
SETX-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5297785

rs_200614765

6 SubmittersRCV000262880 RCV000320659 RCV000687686 RCV002472998 RCV004544713 RCV002392927

NM_015046.7(SETX):c.60C>T (p.Arg20=)

SNV
Germline

Chr9:132349369

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Hereditary spastic paraplegia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5298141

rs_553346505

3 SubmittersRCV000272372 RCV000367105 RCV001848729 RCV002356501

NM_015046.7(SETX):c.7814G>A (p.Arg2605Gln)

SNV
Germline

Chr9:132264459

Conflicting classifications of pathogenicity

Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Condition: not provided
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4

Criteria Provided
Conflicting Classifications

CA5296314

rs_543247171

7 SubmittersRCV000328640 RCV000383186 RCV000999251 RCV000699627

NM_015046.7(SETX):c.7787C>T (p.Ala2596Val)

SNV
Germline

Chr9:132264486

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Inborn genetic diseases
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2

Criteria Provided
Conflicting Classifications

CA5296324

rs_200507089

3 SubmittersRCV000293531 RCV000348329 RCV002411265 RCV002523741

NM_015046.7(SETX):c.7406T>C (p.Leu2469Pro)

SNV
Germline

Chr9:132264867

Conflicting classifications of pathogenicity

Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5296398

rs_151304085

4 SubmittersRCV000266732 RCV000361458 RCV002524586 RCV002379256 RCV004546488

NM_015046.7(SETX):c.4612C>T (p.Arg1538Trp)

SNV
Germline

Chr9:132326986

Conflicting classifications of pathogenicity

Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
SETX-related disorder
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5297167

rs_147018359

5 SubmittersRCV000348389 RCV000400900 RCV000644810 RCV004544710 RCV002338959 RCV003482252

NM_015046.7(SETX):c.4020G>T (p.Lys1340Asn)

SNV
Germline

Chr9:132327578

Conflicting classifications of pathogenicity

Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5297284

rs_368323660

4 SubmittersRCV000320579 RCV000358967 RCV000807443 RCV002356498

NM_015046.7(SETX):c.710A>G (p.Tyr237Cys)

SNV
Germline

Chr9:132336304

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2

Criteria Provided
Conflicting Classifications

CA5297977

rs_138538492

2 SubmittersRCV000289058 RCV000346458 RCV001861345

NM_007126.5(VCP):c.*700C>A

SNV
Germline

Chr9:35056417

Conflicting classifications of pathogenicity

Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10633600

rs_537730311

2 SubmittersRCV000279189 RCV000373728 RCV003430970

NM_001008212.2(OPTN):c.573A>G (p.Ser191=)

SNV
Germline

Chr10:13116287

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 12
Primary open angle glaucoma

Criteria Provided
Conflicting Classifications

CA5410675

rs_773095721

1 SubmittersRCV000267937 RCV000323047

NM_001008212.2(OPTN):c.*1251C>G

SNV
Germline

Chr10:13138117

Conflicting classifications of pathogenicity

Primary open angle glaucoma
Amyotrophic lateral sclerosis type 12

Criteria Provided
Conflicting Classifications

CA10634931

rs_542617940

1 SubmittersRCV000326379 RCV000380977

NM_001008212.2(OPTN):c.1569G>A (p.Ala523=)

SNV
Germline

Chr10:13133538

Conflicting classifications of pathogenicity

Primary open angle glaucoma
Primary open angle glaucoma
Glaucoma 1, open angle, E
Amyotrophic lateral sclerosis type 12
Inborn genetic diseases
Amyotrophic lateral sclerosis type 12

Criteria Provided
Conflicting Classifications

CA5411021

rs_771316696

3 SubmittersRCV000401566 RCV002520542 RCV002402014 RCV000305057

NM_025137.4(SPG11):c.5595A>G (p.Thr1865=)

SNV
Germline

Chr15:44584085

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Inborn genetic diseases
Charcot-Marie-Tooth disease axonal type 2X
Amyotrophic lateral sclerosis type 5

Criteria Provided
Conflicting Classifications

CA7534385

rs_375403626

4 SubmittersRCV000685697 RCV002348056 RCV002467737 RCV002467736

NM_004960.4(FUS):c.192A>G (p.Thr64=)

SNV
Germline

Chr16:31183859

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 6
Amyotrophic lateral sclerosis type 6
Tremor, hereditary essential, 4
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8023532

rs_776333956

4 SubmittersRCV000352976 RCV002521010 RCV003409496 RCV004021657

NM_025137.4(SPG11):c.581C>T (p.Pro194Leu)

SNV
Germline

Chr15:44659165

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Amyotrophic lateral sclerosis type 5
Charcot-Marie-Tooth disease axonal type 2X

Criteria Provided
Conflicting Classifications

CA7535791

rs_573482671

3 SubmittersRCV000348489 RCV002467754 RCV002467755

NM_004984.4(KIF5A):c.2927C>T (p.Thr976Ile)

SNV
Germline

Chr12:57581887

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 10
Spastic paraplegia
Amyotrophic lateral sclerosis
Hereditary spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6653255

rs_139801016

6 SubmittersRCV000391548 RCV001039954 RCV001260220 RCV001848094 RCV000994942

NM_004960.4(FUS):c.937-10C>T

SNV
Germline

Chr16:31189655

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 6
Amyotrophic lateral sclerosis type 6
Tremor, hereditary essential, 4

Criteria Provided
Conflicting Classifications

CA8023887

rs_199705472

2 SubmittersRCV000383521 RCV002056488

NM_004738.5(VAPB):c.*5095T>G

SNV
Germline

Chr20:58449330

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 8
Adult-onset proximal spinal muscular atrophy, autosomal dominant
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9924616

rs_143424619

2 SubmittersRCV000351005 RCV000407007 RCV003326415

NM_001378743.1(CYLD):c.59T>G (p.Ile20Ser)

SNV
Germline

Chr16:50749757

Conflicting classifications of pathogenicity

Brooke-Spiegler syndrome
Familial multiple trichoepitheliomata
Familial cylindromatosis
Condition: not provided
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8

Criteria Provided
Conflicting Classifications

CA8052119

rs_764097337

3 SubmittersRCV000311859 RCV000370163 RCV000404707 RCV002264928 RCV003469254

NM_004960.4(FUS):c.951G>A (p.Thr317=)

SNV
Germline

Chr16:31189679

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 6
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8023892

rs_771216742

2 SubmittersRCV000289061 RCV002374538

NM_004738.5(VAPB):c.618C>T (p.Ser206=)

SNV
Germline

Chr20:58444121

Conflicting classifications of pathogenicity

Adult-onset proximal spinal muscular atrophy, autosomal dominant
Amyotrophic lateral sclerosis type 8
Inborn genetic diseases
Amyotrophic lateral sclerosis type 8
Adult-onset proximal spinal muscular atrophy, autosomal dominant

Criteria Provided
Conflicting Classifications

CA9924316

rs_747208140

3 SubmittersRCV000264195 RCV000321639 RCV002356472 RCV002520024

NM_013444.4(UBQLN2):c.243A>G (p.Leu81=)

SNV
Germline

ChrX:56564116

Conflicting classifications of pathogenicity

Amyotrophic Lateral Sclerosis, Dominant
Amyotrophic lateral sclerosis type 15

Criteria Provided
Conflicting Classifications

CA10430051

rs_778382794

2 SubmittersRCV000385557 RCV001167821

NM_004738.5(VAPB):c.30C>T (p.Leu10=)

SNV
Germline

Chr20:58389489

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 8
Adult-onset proximal spinal muscular atrophy, autosomal dominant
Amyotrophic lateral sclerosis type 8
Adult-onset proximal spinal muscular atrophy, autosomal dominant
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10652677

rs_886056811

3 SubmittersRCV000347700 RCV000402917 RCV002254693 RCV002323547

NM_004738.5(VAPB):c.332C>T (p.Pro111Leu)

SNV
Germline

Chr20:58438961

Conflicting classifications of pathogenicity

Adult-onset proximal spinal muscular atrophy, autosomal dominant
Amyotrophic lateral sclerosis type 8
Amyotrophic lateral sclerosis type 8
Adult-onset proximal spinal muscular atrophy, autosomal dominant
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9924233

rs_777316448

3 SubmittersRCV000312731 RCV000348929 RCV002254546 RCV002323548

NM_004738.5(VAPB):c.574-4G>A

SNV
Germline

Chr20:58444073

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 8
Adult-onset proximal spinal muscular atrophy, autosomal dominant
Condition: not provided
Amyotrophic lateral sclerosis type 8
Adult-onset proximal spinal muscular atrophy, autosomal dominant
Inborn genetic diseases
VAPB-related disorder

Criteria Provided
Conflicting Classifications

CA9924308

rs_201798741

5 SubmittersRCV000299440 RCV000356646 RCV001564242 RCV002254548 RCV002348093 RCV003922478

NM_000454.5(SOD1):c.66G>A (p.Glu22=)

SNV
Germline

Chr21:31659835

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 1

Criteria Provided
Conflicting Classifications

CA9998860

rs_756458346

2 SubmittersRCV000387182

NM_006415.4(SPTLC1):c.992C>A (p.Ser331Tyr)

SNV
Germline

Chr9:92047261

Pathogenic

Condition: not provided
Charcot-Marie-Tooth disease
Hereditary sensory and autonomic neuropathy type 1
Neuropathy, hereditary sensory and autonomic, type IA, severe
Amyotrophic lateral sclerosis 27, juvenile

Criteria Provided
Multiple Submitters
No Conflicts

CA16042656

rs_267607087

4 SubmittersRCV000414705 RCV000790228 RCV000795948 RCV001249813 RCV003152600

NM_025137.4(SPG11):c.5381T>C (p.Leu1794Pro)

SNV
Germline

Chr15:44584299

Conflicting classifications of pathogenicity

Difficulty walking
Generalized hyperreflexia
Spastic paraparesis
Gait disturbance
Hereditary spastic paraplegia 11
Condition: not provided
Hereditary spastic paraplegia
Amyotrophic lateral sclerosis
Inborn genetic diseases
Charcot-Marie-Tooth disease axonal type 2X
Hereditary spastic paraplegia 11
Juvenile amyotrophic lateral sclerosis

Criteria Provided
Conflicting Classifications

CA7534422

rs_201689565

17 SubmittersRCV000414944 RCV000801301 RCV001268887 RCV001848737 RCV003105892 RCV003168606 RCV003483611

NM_020919.4(ALS2):c.3415C>T (p.Arg1139Ter)

SNV
Germline

Chr2:201724392

Pathogenic/Likely pathogenic

Condition: not provided
Amyotrophic lateral sclerosis type 2, juvenile
Inborn genetic diseases
Infantile-onset ascending hereditary spastic paralysis
Amyotrophic lateral sclerosis type 2, juvenile
Juvenile primary lateral sclerosis
Infantile-onset ascending hereditary spastic paralysis

Criteria Provided
Multiple Submitters
No Conflicts

CA2057886

rs_767350733

5 SubmittersRCV000421128 RCV000735438 RCV000624087 RCV001851103 RCV002481351

NM_014845.6(FIG4):c.446+9G>A

SNV
Germline

Chr6:109727274

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4J
Amyotrophic lateral sclerosis type 11
Charcot-Marie-Tooth disease

Criteria Provided
Conflicting Classifications

CA3955766

rs_190287033

9 SubmittersRCV000418496 RCV000710135 RCV001086795 RCV001153952 RCV001153953 RCV001173266

NM_003900.5(SQSTM1):c.756C>T (p.Gly252=)

SNV
Germline

Chr5:179833033

Conflicting classifications of pathogenicity

not specified
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
Paget disease of bone 2, early-onset

Criteria Provided
Conflicting Classifications

CA16604940

rs_769297000

2 SubmittersRCV000444659 RCV001055830

NM_014845.6(FIG4):c.33G>C (p.Ser11=)

SNV
Germline

Chr6:109691468

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease type 4J
Amyotrophic lateral sclerosis type 11
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4
Inborn genetic diseases
FIG4-related disorder

Criteria Provided
Conflicting Classifications

CA3955640

rs_527523781

6 SubmittersRCV000433196 RCV001158140 RCV001158141 RCV001173276 RCV001418759 RCV002451035 RCV003970216

NM_015046.7(SETX):c.23C>T (p.Thr8Met)

SNV
Germline

Chr9:132349406

Conflicting classifications of pathogenicity

Condition: not provided
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2

Criteria Provided
Conflicting Classifications

CA16605391

rs_1057520367

2 SubmittersRCV000440159 RCV001861495

NM_025137.4(SPG11):c.7155T>G (p.Tyr2385Ter)

SNV
Germline

Chr15:44563298

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary spastic paraplegia 11
Amyotrophic lateral sclerosis type 5

Criteria Provided
Multiple Submitters
No Conflicts

CA16607073

rs_778305085

4 SubmittersRCV000441784 RCV000528304 RCV001095472

NM_020919.4(ALS2):c.3741T>G (p.Gly1247=)

SNV
Germline

Chr2:201718172

Conflicting classifications of pathogenicity

Infantile-onset ascending hereditary spastic paralysis
ALS2-related disorder
Amyotrophic lateral sclerosis type 2, juvenile
Condition: not provided
Hereditary spastic paraplegia
not specified

Criteria Provided
Conflicting Classifications

CA2057766

rs_3219166

9 SubmittersRCV000473535 RCV001143531 RCV001143532 RCV001531945 RCV001848840 RCV001662448

NM_014845.6(FIG4):c.834A>T (p.Lys278Asn)

SNV
Germline

Chr6:109741502

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Amyotrophic lateral sclerosis type 11
Yunis-Varon syndrome
Bilateral parasagittal parieto-occipital polymicrogyria
Charcot-Marie-Tooth disease type 4J
Condition: not provided
not specified
Inborn genetic diseases
FIG4-related disorder

Criteria Provided
Conflicting Classifications

CA3955919

rs_138048706

11 SubmittersRCV000462434 RCV000662127 RCV000662128 RCV000662129 RCV000662126 RCV001573278 RCV001662424 RCV002411445 RCV003970280

NM_004984.4(KIF5A):c.2146C>T (p.Arg716Trp)

SNV
Germline

Chr12:57576326

Conflicting classifications of pathogenicity

Spastic paraplegia
Amyotrophic lateral sclerosis

Criteria Provided
Conflicting Classifications

CA6653017

rs_377539747

2 SubmittersRCV000471143 RCV001843522

NM_025137.4(SPG11):c.5121G>T (p.Glu1707Asp)

SNV
Germline

Chr15:44585636

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Condition: not provided
Intellectual disability
Amyotrophic lateral sclerosis type 5
Inborn genetic diseases
Charcot-Marie-Tooth disease axonal type 2X
Charcot-Marie-Tooth disease axonal type 2X
Amyotrophic lateral sclerosis type 5
Hereditary spastic paraplegia 11
not specified

Criteria Provided
Conflicting Classifications

CA7534494

rs_145643238

15 SubmittersRCV000456956 RCV000658710 RCV001252107 RCV002467808 RCV002339138 RCV002467809 RCV003483617 RCV003488606

NM_025137.4(SPG11):c.2656T>C (p.Tyr886His)

SNV
Germline

Chr15:44620368

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
not specified
Amyotrophic lateral sclerosis
Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA7535167

rs_139687202

10 SubmittersRCV000475662 RCV000518728 RCV001260217 RCV001563519 RCV001848826

NM_025137.4(SPG11):c.3320G>C (p.Cys1107Ser)

SNV
Germline

Chr15:44608577

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Inborn genetic diseases
not specified
Amyotrophic lateral sclerosis type 5
Charcot-Marie-Tooth disease axonal type 2X
Hereditary spastic paraplegia 11

Criteria Provided
Conflicting Classifications

CA7534998

rs_201271196

4 SubmittersRCV000472310 RCV002323697 RCV003155188 RCV002496754

NM_025137.4(SPG11):c.3425C>G (p.Ser1142Cys)

SNV
Germline

Chr15:44608472

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Amyotrophic lateral sclerosis type 5
Hereditary spastic paraplegia 11
Charcot-Marie-Tooth disease axonal type 2X
Amyotrophic lateral sclerosis
Condition: not provided
Hereditary spastic paraplegia
Charcot-Marie-Tooth disease axonal type 2X
Amyotrophic lateral sclerosis type 5
SPG11-related disorder

Criteria Provided
Conflicting Classifications

CA7534986

rs_201082396

9 SubmittersRCV000462305 RCV000765212 RCV001260216 RCV001508758 RCV001848803 RCV002467815 RCV002467814 RCV003401464

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

SNV
Germline

Chr2:74365534

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1721654

rs_758387062

4 SubmittersRCV000479029 RCV001463517 RCV002438188 RCV003900024

NM_014845.6(FIG4):c.737G>A (p.Trp246Ter)

SNV
Germline

Chr6:109738415

Pathogenic

Condition: not provided
Amyotrophic lateral sclerosis type 11
Yunis-Varon syndrome
Bilateral parasagittal parieto-occipital polymicrogyria
Charcot-Marie-Tooth disease type 4J
Charcot-Marie-Tooth disease type 4
Inborn genetic diseases
FIG4-related disorder
Charcot-Marie-Tooth disease type 4J

Criteria Provided
Multiple Submitters
No Conflicts

CA16618230

rs_776005417

7 SubmittersRCV000478168 RCV000763552 RCV001232367 RCV002525832 RCV003419795 RCV003447141

NM_015046.7(SETX):c.3826C>G (p.Gln1276Glu)

SNV
Germline

Chr9:132327772

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Condition: not provided
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Inborn genetic diseases
SETX-related disorder

Criteria Provided
Conflicting Classifications

CA5297318

rs_148604312

8 SubmittersRCV000515884 RCV000560688 RCV000859602 RCV001169792 RCV001169791 RCV002356794 RCV004541530

NM_015046.7(SETX):c.3229G>A (p.Asp1077Asn)

SNV
Germline

Chr9:132328369

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
not specified
Inborn genetic diseases
Amyotrophic lateral sclerosis
SETX-related disorder

Criteria Provided
Conflicting Classifications

CA5297445

rs_145097270

10 SubmittersRCV000517650 RCV000515959 RCV001082564 RCV001167391 RCV001168005 RCV001283502 RCV002446949 RCV003105922 RCV004535538

NM_020919.4(ALS2):c.3158G>A (p.Trp1053Ter)

SNV
Germline

Chr2:201726688

Pathogenic/Likely pathogenic

Condition: not provided
Infantile-onset ascending hereditary spastic paralysis
Amyotrophic lateral sclerosis type 2, juvenile
Infantile-onset ascending hereditary spastic paralysis
Juvenile primary lateral sclerosis
Tip-toe gait

Criteria Provided
Multiple Submitters
No Conflicts

CA16621787

rs_1064797281

4 SubmittersRCV000488207 RCV003611516 RCV002512105 RCV003318583

NM_004960.4(FUS):c.1550A>G (p.His517Arg)

SNV
Germline

Chr16:31191407

Conflicting classifications of pathogenicity

Condition: not provided
Amyotrophic lateral sclerosis type 6
Tremor, hereditary essential, 4

Criteria Provided
Conflicting Classifications

CA395677337

rs_1085308015

2 SubmittersRCV000489101 RCV002526045

NM_007126.5(VCP):c.383G>C (p.Gly128Ala)

SNV
Germline

Chr9:35066737

Conflicting classifications of pathogenicity

Condition: not provided
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia

Criteria Provided
Conflicting Classifications

CA373291969

rs_1554668979

2 SubmittersRCV000498690 RCV003766796

NM_015046.7(SETX):c.3010A>G (p.Asn1004Asp)

SNV
Germline

Chr9:132328588

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Inborn genetic diseases
SETX-related disorder

Criteria Provided
Conflicting Classifications

CA5297500

rs_77984885

6 SubmittersRCV000507293 RCV000552319 RCV001089104 RCV002438234 RCV004541589

NM_007375.4(TARDBP):c.87C>T (p.Ser29=)

SNV
Germline

Chr1:11013814

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Amyotrophic lateral sclerosis type 10
TARDBP-related frontotemporal dementia

Criteria Provided
Conflicting Classifications

CA586308

rs_201693535

4 SubmittersRCV000513594 RCV002448554 RCV002524956

NM_004960.4(FUS):c.1080C>T (p.Ser360=)

SNV
Germline

Chr16:31190053

Conflicting classifications of pathogenicity

Condition: not provided
Tremor, hereditary essential, 4
Amyotrophic lateral sclerosis type 6
Amyotrophic lateral sclerosis type 6
Inborn genetic diseases
FUS-related disorder

Criteria Provided
Conflicting Classifications

CA8023935

rs_190724342

5 SubmittersRCV000512789 RCV001078775 RCV001117054 RCV002420293 RCV003902815

NM_015046.7(SETX):c.5322G>T (p.Gln1774His)

SNV
Germline

Chr9:132311809

Conflicting classifications of pathogenicity

Condition: not provided
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4

Criteria Provided
Conflicting Classifications

CA5297016

rs_771691157

2 SubmittersRCV000512696 RCV002527420

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

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

Criteria Provided
Conflicting Classifications

CA1722318

rs_72466489

5 SubmittersRCV000516655 RCV000585130 RCV001088199 RCV003942686

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

SNV
Germline

Chr2:74372939

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1722418

rs_148810193

4 SubmittersRCV000517517 RCV000644478 RCV001329176

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

SNV
Germline

Chr2:74377999

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA347321489

rs_1393363759

3 SubmittersRCV000516456 RCV001232579 RCV003993994

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

SNV
Germline

Chr2:74378239

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

CA1722618

rs_758320436

4 SubmittersRCV000516591 RCV000529783 RCV003935364 RCV004023504

NM_003900.5(SQSTM1):c.996A>G (p.Ser332=)

SNV
Germline

Chr5:179833613

Conflicting classifications of pathogenicity

not specified
Paget disease of bone 2, early-onset
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
Paget disease of bone 2, early-onset
Paget disease of bone 3

Criteria Provided
Conflicting Classifications

CA3600778

rs_141436407

5 SubmittersRCV000518450 RCV000625254 RCV000872567 RCV001157195

NM_003900.5(SQSTM1):c.1108T>C (p.Ser370Pro)

SNV
Germline

Chr5:179833725

Conflicting classifications of pathogenicity

not specified
Paget disease of bone 2, early-onset
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
Paget disease of bone 3
Condition: not provided
SQSTM1-related disorder

Criteria Provided
Conflicting Classifications

CA3600800

rs_143956614

6 SubmittersRCV000518391 RCV000873769 RCV001157196 RCV001579517 RCV004541623

NM_015046.7(SETX):c.7738G>A (p.Val2580Ile)

SNV
Germline

Chr9:132264535

Conflicting classifications of pathogenicity

not specified
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Inborn genetic diseases
Amyotrophic lateral sclerosis type 4

Criteria Provided
Conflicting Classifications

CA5296340

rs_370366576

3 SubmittersRCV000518348 RCV003233696 RCV002404331 RCV003233697

NM_015046.7(SETX):c.7490G>A (p.Ser2497Asn)

SNV
Germline

Chr9:132264783

Conflicting classifications of pathogenicity

not specified
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Condition: not provided
Inborn genetic diseases
SETX-related disorder

Criteria Provided
Conflicting Classifications

CA5296378

rs_61735488

6 SubmittersRCV000516539 RCV000531955 RCV001509372 RCV002395238 RCV004541622

NM_015046.7(SETX):c.7432A>G (p.Thr2478Ala)

SNV
Germline

Chr9:132264841

Conflicting classifications of pathogenicity

not specified
Inborn genetic diseases
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Condition: not provided
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
SETX-related disorder

Criteria Provided
Conflicting Classifications

CA5296390

rs_142303658

9 SubmittersRCV000518280 RCV000624322 RCV000764810 RCV001702669 RCV001731743 RCV004541621

NM_015046.7(SETX):c.7139G>A (p.Arg2380Gln)

SNV
Germline

Chr9:132271770

Conflicting classifications of pathogenicity

Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Condition: not provided
not specified
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
SETX-related disorder

Criteria Provided
Conflicting Classifications

CA5296494

rs_145397619

7 SubmittersRCV000524648 RCV000518213 RCV001814998 RCV003233692 RCV003233693 RCV004541620

NM_015046.7(SETX):c.5998C>G (p.Gln2000Glu)

SNV
Germline

Chr9:132295980

Conflicting classifications of pathogenicity

Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Inborn genetic diseases
Condition: not provided
SETX-related disorder

Criteria Provided
Conflicting Classifications

CA5296854

rs_142917412

4 SubmittersRCV000644817 RCV002358400 RCV002473039 RCV004541618

NM_015046.7(SETX):c.5804A>G (p.Asn1935Ser)

SNV
Germline

Chr9:132297032

Conflicting classifications of pathogenicity

not specified
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2

Criteria Provided
Conflicting Classifications

CA5296892

rs_762791927

2 SubmittersRCV000518592 RCV002525079

NM_015046.7(SETX):c.4865C>T (p.Pro1622Leu)

SNV
Germline

Chr9:132326733

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Condition: not provided
not specified
Inborn genetic diseases
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4

Criteria Provided
Conflicting Classifications

CA5297121

rs_140781535

8 SubmittersRCV000764811 RCV001579382 RCV000518382 RCV002341213 RCV003233685 RCV003233686

NM_015046.7(SETX):c.4433C>A (p.Ala1478Glu)

SNV
Germline

Chr9:132327165

Conflicting classifications of pathogenicity

Condition: not provided
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
not specified
Hereditary spastic paraplegia
Inborn genetic diseases
SETX-related disorder

Criteria Provided
Conflicting Classifications

CA5297202

rs_143661911

10 SubmittersRCV000518326 RCV000550269 RCV001165737 RCV001167321 RCV001644615 RCV001848902 RCV002329225 RCV004537862

NM_015046.7(SETX):c.4120A>G (p.Lys1374Glu)

SNV
Germline

Chr9:132327478

Conflicting classifications of pathogenicity

not specified
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2

Criteria Provided
Conflicting Classifications

CA5297266

rs_756823072

2 SubmittersRCV000516516 RCV002527524

NM_015046.7(SETX):c.3028C>T (p.Arg1010Cys)

SNV
Germline

Chr9:132328570

Conflicting classifications of pathogenicity

not specified
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
SETX-related disorder

Criteria Provided
Conflicting Classifications

CA5297495

rs_766799023

4 SubmittersRCV000516603 RCV001851461 RCV003233678 RCV003233677 RCV004537860

NM_015046.7(SETX):c.3016G>A (p.Gly1006Arg)

SNV
Germline

Chr9:132328582

Conflicting classifications of pathogenicity

not specified
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5297499

rs_141266068

7 SubmittersRCV000517441 RCV000644833 RCV001311797 RCV002438247

NM_015046.7(SETX):c.2862G>A (p.Thr954=)

SNV
Germline

Chr9:132328736

Conflicting classifications of pathogenicity

not specified
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5297523

rs_149610510

4 SubmittersRCV000518240 RCV001857928 RCV003431058 RCV002438246

NM_015046.7(SETX):c.2842C>A (p.Pro948Thr)

SNV
Germline

Chr9:132328756

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4

Criteria Provided
Conflicting Classifications

CA375333570

rs_778882347

4 SubmittersRCV000517506 RCV001755772 RCV003766933 RCV003233673 RCV003233674

NM_015046.7(SETX):c.2395C>T (p.His799Tyr)

SNV
Germline

Chr9:132329203

Conflicting classifications of pathogenicity

not specified
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5297604

rs_200459144

3 SubmittersRCV000517993 RCV000551603 RCV002448560

NM_015046.7(SETX):c.1690T>G (p.Leu564Val)

SNV
Germline

Chr9:132329908

Conflicting classifications of pathogenicity

not specified
Inborn genetic diseases
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2

Criteria Provided
Conflicting Classifications

CA5297732

rs_761877146

3 SubmittersRCV000518116 RCV002413399 RCV000695046

NM_015046.7(SETX):c.1392A>G (p.Ser464=)

SNV
Germline

Chr9:132330206

Conflicting classifications of pathogenicity

not specified
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Hereditary spastic paraplegia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5297784

rs_144164119

4 SubmittersRCV000517536 RCV001463467 RCV001848899 RCV002395236

NM_015046.7(SETX):c.806C>T (p.Ser269Leu)

SNV
Germline

Chr9:132334640

Conflicting classifications of pathogenicity

not specified
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Condition: not provided
Inborn genetic diseases
Amyotrophic lateral sclerosis type 4

Criteria Provided
Conflicting Classifications

CA5297936

rs_757988188

6 SubmittersRCV000517524 RCV001168905 RCV001039811 RCV002223857 RCV002420301 RCV001168904

NM_015046.7(SETX):c.654G>C (p.Lys218Asn)

SNV
Germline

Chr9:132336360

Conflicting classifications of pathogenicity

not specified
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Condition: not provided
Hereditary spastic paraplegia
Inborn genetic diseases
SETX-related disorder

Criteria Provided
Conflicting Classifications

CA5297991

rs_117861188

11 SubmittersRCV000516905 RCV000535102 RCV001166018 RCV001166019 RCV001311799 RCV001848903 RCV002367720 RCV004541619

NM_015046.7(SETX):c.172C>T (p.His58Tyr)

SNV
Germline

Chr9:132349257

Conflicting classifications of pathogenicity

not specified
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA200838114

rs_757760067

3 SubmittersRCV000516965 RCV001049138 RCV002404330

NM_025137.4(SPG11):c.1763A>G (p.Asp588Gly)

SNV
Germline

Chr15:44629361

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia 11
Amyotrophic lateral sclerosis type 5
Charcot-Marie-Tooth disease axonal type 2X

Criteria Provided
Conflicting Classifications

CA7535442

rs_763060505

3 SubmittersRCV000517770 RCV001851462 RCV002467849 RCV002467850

NM_004738.5(VAPB):c.551G>A (p.Arg184Gln)

SNV
Germline

Chr20:58441061

Conflicting classifications of pathogenicity

not specified
Amyotrophic lateral sclerosis type 8
Adult-onset proximal spinal muscular atrophy, autosomal dominant
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9924281

rs_145483046

3 SubmittersRCV000518325 RCV002254550 RCV002350144

NM_004738.5(VAPB):c.667C>T (p.Arg223Trp)

SNV
Germline

Chr20:58444170

Conflicting classifications of pathogenicity

not specified
Adult-onset proximal spinal muscular atrophy, autosomal dominant
Amyotrophic lateral sclerosis type 8
Amyotrophic lateral sclerosis type 8
Adult-onset proximal spinal muscular atrophy, autosomal dominant
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9924325

rs_144718603

4 SubmittersRCV000516581 RCV001143189 RCV001143188 RCV002254551 RCV002367723

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

SNV
Germline

Chr2:74371149

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1722338

rs_371723224

7 SubmittersRCV000644472 RCV000756010 RCV001137904 RCV001137903 RCV002272277 RCV002527653 RCV003900094

NM_015046.7(SETX):c.3029G>A (p.Arg1010His)

SNV
Germline

Chr9:132328569

Conflicting classifications of pathogenicity

Condition: not provided
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
not specified
Inborn genetic diseases
SETX-related disorder

Criteria Provided
Conflicting Classifications

CA5297494

rs_370781594

5 SubmittersRCV000521273 RCV001306845 RCV001662531 RCV002438262 RCV004541636

NM_007126.5(VCP):c.278G>A (p.Arg93His)

SNV
Germline

Chr9:35067915

Likely pathogenic

Condition: not provided
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6

Criteria Provided
Multiple Submitters
No Conflicts

CA5039527

rs_779959657

2 SubmittersRCV000520021 RCV002231635

NM_006415.4(SPTLC1):c.68A>T (p.Tyr23Phe)

SNV
Germline

Chr9:92112552

Likely pathogenic

Condition: not provided
Neuropathy, hereditary sensory and autonomic, type 1A
Amyotrophic lateral sclerosis 27, juvenile

Criteria Provided
Multiple Submitters
No Conflicts

CA373795895

rs_1554716504

3 SubmittersRCV000522579 RCV001267702 RCV003152607

NM_020919.4(ALS2):c.1641G>A (p.Arg547=)

SNV
Germline

Chr2:201753242

Conflicting classifications of pathogenicity

Infantile-onset ascending hereditary spastic paralysis
Amyotrophic lateral sclerosis type 2, juvenile
ALS2-related disorder
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2058394

rs_34122078

6 SubmittersRCV000557506 RCV001141937 RCV001141938 RCV001553526 RCV003243183

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_015046.7(SETX):c.4436C>T (p.Ala1479Val)

SNV
Germline

Chr9:132327162

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5297200

rs_761119964

3 SubmittersRCV000525003 RCV003243185 RCV003482284

NM_015046.7(SETX):c.4197A>G (p.Thr1399=)

SNV
Germline

Chr9:132327401

Conflicting classifications of pathogenicity

Condition: not provided
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA5297250

rs_148078248

8 SubmittersRCV000542207 RCV001085153 RCV001167323 RCV001167324 RCV002330911 RCV003403306

NM_015046.7(SETX):c.4096T>C (p.Ser1366Pro)

SNV
Germline

Chr9:132327502

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Condition: not provided
Inborn genetic diseases
SETX-related disorder

Criteria Provided
Conflicting Classifications

CA5297271

rs_140147684

10 SubmittersRCV000549234 RCV001167927 RCV001167928 RCV001288399 RCV002323994 RCV004541717

NM_015046.7(SETX):c.2717C>T (p.Ser906Leu)

SNV
Germline

Chr9:132328881

Conflicting classifications of pathogenicity

Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5297546

rs_148375192

3 SubmittersRCV000552679 RCV001165886 RCV001165887 RCV002431641

NM_015046.7(SETX):c.93A>G (p.Gln31=)

SNV
Germline

Chr9:132349336

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Inborn genetic diseases
SETX-related disorder

Criteria Provided
Conflicting Classifications

CA5298133

rs_201795631

3 SubmittersRCV000557520 RCV002377107 RCV004527650

NM_015046.7(SETX):c.2479A>G (p.Lys827Glu)

SNV
Germline

Chr9:132329119

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Condition: not provided
not specified
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Hereditary spastic paraplegia
See cases
Inborn genetic diseases
SETX-related disorder

Criteria Provided
Conflicting Classifications

CA5297587

rs_150532677

14 SubmittersRCV000540061 RCV000762582 RCV001000648 RCV001167461 RCV001167462 RCV001848950 RCV002252164 RCV002456164 RCV004538008

NM_015046.7(SETX):c.7100+9T>C

SNV
Germline

Chr9:132275247

Conflicting classifications of pathogenicity

Condition: not provided
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Hereditary spastic paraplegia
SETX-related disorder

Criteria Provided
Conflicting Classifications

CA5296516

rs_200088320

5 SubmittersRCV000713230 RCV001087251 RCV001165603 RCV001165604 RCV001848955 RCV004541718

NM_015046.7(SETX):c.4982C>G (p.Pro1661Arg)

SNV
Germline

Chr9:132326616

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Condition: not provided
not specified
Hereditary spastic paraplegia
Inborn genetic diseases
SETX-related disorder

Criteria Provided
Conflicting Classifications

CA5297098

rs_146873848

11 SubmittersRCV000558440 RCV000859806 RCV001644653 RCV001848953 RCV002341378 RCV004538011

NM_015046.7(SETX):c.2282C>T (p.Ser761Leu)

SNV
Germline

Chr9:132329316

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Inborn genetic diseases
Condition: not provided
SETX-related disorder

Criteria Provided
Conflicting Classifications

CA5297629

rs_200153024

4 SubmittersRCV000526691 RCV002448727 RCV003480678 RCV004541714

NM_015046.7(SETX):c.768G>T (p.Leu256=)

SNV
Germline

Chr9:132334678

Conflicting classifications of pathogenicity

Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Inborn genetic diseases
Amyotrophic lateral sclerosis type 4

Criteria Provided
Conflicting Classifications

CA5297945

rs_759468738

3 SubmittersRCV001168906 RCV000536421 RCV002404485 RCV001168907

NM_015046.7(SETX):c.192A>G (p.Leu64=)

SNV
Germline

Chr9:132346457

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
not specified
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Condition: not provided
Hereditary spastic paraplegia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5298104

rs_117326462

8 SubmittersRCV000556642 RCV001287950 RCV001167591 RCV001167592 RCV001558290 RCV001848949 RCV002413561

NM_015046.7(SETX):c.2446A>G (p.Thr816Ala)

SNV
Germline

Chr9:132329152

Conflicting classifications of pathogenicity

Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5297590

rs_369470593

2 SubmittersRCV000527749 RCV002456163

NM_015046.7(SETX):c.2005A>T (p.Asn669Tyr)

SNV
Germline

Chr9:132329593

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5297680

rs_143727702

3 SubmittersRCV000537094 RCV000992930 RCV002420466

NM_007126.5(VCP):c.426G>A (p.Ala142=)

SNV
Germline

Chr9:35066694

Conflicting classifications of pathogenicity

Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5039486

rs_577812326

3 SubmittersRCV000525916 RCV000598290 RCV002330872

NM_005866.4(SIGMAR1):c.463G>A (p.Gly155Arg)

SNV
Germline

Chr9:34635841

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 16
Autosomal recessive distal spinal muscular atrophy 2
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5035850

rs_200076129

3 SubmittersRCV000543324 RCV001662555 RCV002330884

NM_015046.7(SETX):c.7870G>T (p.Asp2624Tyr)

SNV
Germline

Chr9:132264403

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
not specified
Inborn genetic diseases
Condition: not provided
SETX-related disorder

Criteria Provided
Conflicting Classifications

CA5296301

rs_141589525

6 SubmittersRCV000537182 RCV001662568 RCV002413562 RCV002461309 RCV004538014

NM_007126.5(VCP):c.1202A>G (p.Asn401Ser)

SNV
Germline

Chr9:35061172

Conflicting classifications of pathogenicity

Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
Condition: not provided
Inborn genetic diseases
VCP-related disorder

Criteria Provided
Conflicting Classifications

CA5039291

rs_148329626

7 SubmittersRCV000534353 RCV001579523 RCV002350262 RCV004537963

NM_025137.4(SPG11):c.4161+9C>G

SNV
Germline

Chr15:44596775

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Hereditary spastic paraplegia
Amyotrophic lateral sclerosis type 5
Charcot-Marie-Tooth disease axonal type 2X

Criteria Provided
Conflicting Classifications

CA658658292

rs_1555451101

3 SubmittersRCV000544562 RCV001848945 RCV002467866 RCV002467867

NM_025137.4(SPG11):c.5315G>A (p.Arg1772His)

SNV
Germline

Chr15:44584365

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Hereditary spastic paraplegia
Charcot-Marie-Tooth disease axonal type 2X
Amyotrophic lateral sclerosis type 5
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7534430

rs_150823040

6 SubmittersRCV000541207 RCV001848946 RCV002467875 RCV002467874 RCV003372748 RCV002509426

NM_025137.4(SPG11):c.4261G>A (p.Asp1421Asn)

SNV
Germline

Chr15:44596256

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Amyotrophic lateral sclerosis type 5
Charcot-Marie-Tooth disease axonal type 2X
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7534720

rs_191148548

4 SubmittersRCV000556968 RCV002467868 RCV002467869 RCV002263778 RCV002330887

NM_213720.3(CHCHD10):c.214G>A (p.Ala72Thr)

SNV
Germline

Chr22:23767421

Conflicting classifications of pathogenicity

Autosomal dominant mitochondrial myopathy with exercise intolerance
Lower motor neuron syndrome with late-adult onset
Frontotemporal dementia and/or amyotrophic lateral sclerosis 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10145294

rs_542541060

2 SubmittersRCV000558937 RCV002530220

NM_000454.5(SOD1):c.260A>G (p.Asn87Ser)

SNV
Germline

Chr21:31667278

Pathogenic

Amyotrophic lateral sclerosis type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA319334574

rs_11556620

3 SubmittersRCV000529591

NM_145868.2(ANXA11):c.119A>G (p.Asp40Gly)

SNV
Germline

Chr10:80170852

Pathogenic

Amyotrophic lateral sclerosis type 23
Condition: not provided
ANXA11-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA377368826

rs_1247392012

3 SubmittersRCV000578138 RCV001853834 RCV003403366

NM_145868.2(ANXA11):c.112G>A (p.Gly38Arg)

SNV
Germline

Chr10:80170859

Pathogenic/Likely pathogenic

Amyotrophic lateral sclerosis type 23
Amyotrophic lateral sclerosis
Condition: not provided
ANXA11-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA5576379

rs_142083484

5 SubmittersRCV000578149 RCV003105971 RCV001860003 RCV003962641

NM_000940.3(PON3):c.94C>T (p.Arg32Ter)

SNV
Germline

Chr7:95394695

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Amyotrophic lateral sclerosis

Criteria Provided
Conflicting Classifications

CA4350806

rs_147006695

4 SubmittersRCV000579077 RCV000766322 RCV001095523

NM_015046.7(SETX):c.5949+5G>A

SNV
Germline

Chr9:132296882

Conflicting classifications of pathogenicity

Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Condition: not provided
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Hereditary spastic paraplegia
not specified
Inborn genetic diseases
SETX-related disorder

Criteria Provided
Conflicting Classifications

CA5296870

rs_374656811

9 SubmittersRCV000644836 RCV000713224 RCV001169651 RCV001165667 RCV001848978 RCV001706679 RCV002358638 RCV004530626

NM_001008212.2(OPTN):c.127C>T (p.Gln43Ter)

SNV
Germline

Chr10:13109249

Conflicting classifications of pathogenicity

Condition: not provided
OPTN-related disorder
Glaucoma 1, open angle, E
Primary open angle glaucoma
Amyotrophic lateral sclerosis type 12

Criteria Provided
Conflicting Classifications

CA203254276

rs_934287314

3 SubmittersRCV000578674 RCV000778273 RCV001860012

NM_025137.4(SPG11):c.1085G>A (p.Trp362Ter)

SNV
Germline

Chr15:44651862

Pathogenic

Condition: not provided
Amyotrophic lateral sclerosis type 5
Hereditary spastic paraplegia 11
Charcot-Marie-Tooth disease axonal type 2X
Hereditary spastic paraplegia 11
Hereditary spastic paraplegia
Charcot-Marie-Tooth disease axonal type 2X
Amyotrophic lateral sclerosis type 5

Criteria Provided
Multiple Submitters
No Conflicts

CA7535624

rs_140385286

7 SubmittersRCV000578726 RCV000763352 RCV000642546 RCV001848979 RCV002467902 RCV002467901

NM_004960.4(FUS):c.*48G>A

SNV
Germline

Chr16:31191486

Conflicting classifications of pathogenicity

Condition: not provided
Tremor, hereditary essential, 4
Amyotrophic lateral sclerosis type 6
FUS-related disorder

Criteria Provided
Conflicting Classifications

CA8024132

rs_376510148

3 SubmittersRCV000585045 RCV001087410 RCV003403375

NM_015046.7(SETX):c.7417C>G (p.Leu2473Val)

SNV
Germline

Chr9:132264856

Conflicting classifications of pathogenicity

Condition: not provided
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
SETX-related disorder

Criteria Provided
Conflicting Classifications

CA5296396

rs_760196991

6 SubmittersRCV000585562 RCV001860112 RCV003233754 RCV003233755 RCV004530633

NM_015046.7(SETX):c.4A>G (p.Ser2Gly)

SNV
Germline

Chr9:132349425

Conflicting classifications of pathogenicity

Condition: not provided
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Inborn genetic diseases
SETX-related disorder

Criteria Provided
Conflicting Classifications

CA5298157

rs_149808180

4 SubmittersRCV000585415 RCV001860113 RCV002341496 RCV004530634

NM_001199397.3(NEK1):c.1648C>T (p.Arg550Ter)

SNV
Germline

Chr4:169537826

Pathogenic

Amyotrophic lateral sclerosis, susceptibility to, 24
Short-rib thoracic dysplasia 6 with or without polydactyly

Criteria Provided
Single Submitter

CA3137680

rs_371575563

2 SubmittersRCV000585741 RCV001380778

NM_007126.5(VCP):c.1896C>A (p.Ala632=)

SNV
Germline

Chr9:35059601

Conflicting classifications of pathogenicity

Condition: not provided
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Inborn genetic diseases
VCP-related disorder

Criteria Provided
Conflicting Classifications

CA5039169

rs_141275388

4 SubmittersRCV000598527 RCV001403231 RCV002413682 RCV004530715

NM_004984.4(KIF5A):c.2993-3C>T

SNV
Germline

Chr12:57582599

Pathogenic

Amyotrophic lateral sclerosis, susceptibility to, 25
Spastic paraplegia

Criteria Provided
Single Submitter

CA605315756

rs_1402429085

2 SubmittersRCV000598707 RCV003750808

NM_004984.4(KIF5A):c.3020+1G>A

SNV
Germline

Chr12:57582630

Pathogenic

Amyotrophic lateral sclerosis, susceptibility to, 25
Spastic paraplegia

Criteria Provided
Single Submitter

CA385517122

rs_1555179091

2 SubmittersRCV000599583 RCV001854130

NM_004984.4(KIF5A):c.3019A>G (p.Arg1007Gly)

SNV
Germline

Chr12:57582628

Likely pathogenic

Amyotrophic lateral sclerosis, susceptibility to, 25
Condition: not provided
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA385517105

rs_1555179087

3 SubmittersRCV000598752 RCV003311856 RCV002531121

NM_013254.4(TBK1):c.1792A>G (p.Met598Val)

SNV
Germline

Chr12:64496980

Conflicting classifications of pathogenicity

not specified
Frontotemporal dementia and/or amyotrophic lateral sclerosis 4

Criteria Provided
Conflicting Classifications

CA238276382

rs_899858451

2 SubmittersRCV000614658 RCV000687975

NM_000454.5(SOD1):c.59A>G (p.Asn20Ser)

SNV
Germline

Chr21:31659828

Conflicting classifications of pathogenicity

not specified
Amyotrophic lateral sclerosis type 1

Criteria Provided
Conflicting Classifications

CA9998859

rs_768029813

2 SubmittersRCV000611073 RCV000689563

NM_020919.4(ALS2):c.1233T>G (p.Tyr411Ter)

SNV
Germline

Chr2:201757640

Pathogenic

Infantile-onset ascending hereditary spastic paralysis
Infantile-onset ascending hereditary spastic paralysis
Juvenile primary lateral sclerosis
Amyotrophic lateral sclerosis type 2, juvenile

Criteria Provided
Multiple Submitters
No Conflicts

CA350326975

rs_369577952

2 SubmittersRCV000640988 RCV000763471

NM_020919.4(ALS2):c.3046C>G (p.Pro1016Ala)

SNV
Germline

Chr2:201726800

Conflicting classifications of pathogenicity

Infantile-onset ascending hereditary spastic paralysis
ALS2-related disorder
Amyotrophic lateral sclerosis type 2, juvenile
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2057993

rs_41308840

3 SubmittersRCV000640994 RCV001139218 RCV001139219 RCV001591429

NM_020919.4(ALS2):c.331G>A (p.Val111Ile)

SNV
Germline

Chr2:201761663

Conflicting classifications of pathogenicity

Infantile-onset ascending hereditary spastic paralysis
ALS2-related disorder
Amyotrophic lateral sclerosis type 2, juvenile
not specified
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA2058669

rs_61745503

4 SubmittersRCV001089250 RCV001137294 RCV001137295 RCV001644727 RCV001849016

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

Criteria Provided
Conflicting Classifications

CA1721440

rs_200834352

4 SubmittersRCV000644479 RCV001027492 RCV002458080 RCV003965364

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_003900.5(SQSTM1):c.372C>T (p.Pro124=)

SNV
Germline

Chr5:179823928

Conflicting classifications of pathogenicity

Paget disease of bone 2, early-onset
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
Paget disease of bone 3

Criteria Provided
Conflicting Classifications

CA3600490

rs_11548640

2 SubmittersRCV000652545 RCV001157083

NM_014845.6(FIG4):c.640G>A (p.Gly214Arg)

SNV
Germline

Chr6:109735292

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Amyotrophic lateral sclerosis type 11
Charcot-Marie-Tooth disease type 4J
Inborn genetic diseases
Condition: not provided
FIG4-related disorder

Criteria Provided
Conflicting Classifications

CA3955852

rs_529048339

5 SubmittersRCV000654270 RCV001154805 RCV001154806 RCV002360664 RCV003488768 RCV003918092

NM_015046.7(SETX):c.4979A>G (p.His1660Arg)

SNV
Germline

Chr9:132326619

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Hereditary spastic paraplegia
Inborn genetic diseases
Condition: not provided
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2

Criteria Provided
Conflicting Classifications

CA5297100

rs_371894414

5 SubmittersRCV000644814 RCV001849022 RCV002334141 RCV002473088 RCV003233772 RCV003233771

NM_015046.7(SETX):c.2755G>C (p.Val919Leu)

SNV
Germline

Chr9:132328843

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Condition: not provided
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA5297536

rs_561190371

7 SubmittersRCV000644837 RCV000992932 RCV001262697 RCV001270092 RCV002440309 RCV003317317

NM_015046.7(SETX):c.2411T>C (p.Leu804Ser)

SNV
Germline

Chr9:132329187

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5297599

rs_201096140

4 SubmittersRCV000644819 RCV002458083 RCV003480733

NM_015046.7(SETX):c.968G>A (p.Ser323Asn)

SNV
Germline

Chr9:132331319

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
not specified
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5297886

rs_372193033

5 SubmittersRCV000644822 RCV001644729 RCV002369707 RCV003424222

NM_007126.5(VCP):c.478G>C (p.Ala160Pro)

SNV
Germline

Chr9:35065349

Conflicting classifications of pathogenicity

Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
Condition: not provided
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia

Criteria Provided
Conflicting Classifications

CA373289512

rs_1554668805

4 SubmittersRCV000639654 RCV000993545 RCV001535609

NM_015046.7(SETX):c.2124T>C (p.Ser708=)

SNV
Germline

Chr9:132329474

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Hereditary spastic paraplegia
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5297662

rs_139236924

4 SubmittersRCV000644840 RCV001849023 RCV002422334 RCV003432685

NM_015046.7(SETX):c.208A>G (p.Ile70Val)

SNV
Germline

Chr9:132346441

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Inborn genetic diseases
SETX-related disorder

Criteria Provided
Conflicting Classifications

CA5298101

rs_747469176

3 SubmittersRCV000644809 RCV002422333 RCV004533372

NM_015046.7(SETX):c.7660T>A (p.Phe2554Ile)

SNV
Germline

Chr9:132264613

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Inborn genetic diseases
Condition: not provided
SETX-related disorder

Criteria Provided
Conflicting Classifications

CA5296362

rs_368269464

4 SubmittersRCV000644827 RCV002388094 RCV003482289 RCV004533375

NM_015046.7(SETX):c.2404A>G (p.Ser802Gly)

SNV
Germline

Chr9:132329194

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
SETX-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA375336078

rs_1400027699

3 SubmittersRCV000644823 RCV004533373 RCV004025671

NM_015046.7(SETX):c.2254A>G (p.Thr752Ala)

SNV
Germline

Chr9:132329344

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Condition: not provided
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2

Criteria Provided
Conflicting Classifications

CA5297637

rs_745938575

3 SubmittersRCV000644812 RCV002473087 RCV003233770 RCV003233769

NM_015046.7(SETX):c.431A>G (p.Asn144Ser)

SNV
Germline

Chr9:132342757

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5298042

rs_767453182

4 SubmittersRCV000644846 RCV001167587 RCV001167588 RCV001288404 RCV004025672

NM_025137.4(SPG11):c.6410G>A (p.Arg2137Gln)

SNV
Germline

Chr15:44570592

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Condition: not provided
Amyotrophic lateral sclerosis type 5
Charcot-Marie-Tooth disease axonal type 2X
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7534137

rs_200283964

4 SubmittersRCV000642551 RCV001507875 RCV002467954 RCV002467955 RCV003243229

NM_025137.4(SPG11):c.6944A>C (p.Asn2315Thr)

SNV
Germline

Chr15:44565909

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Condition: not provided
Inborn genetic diseases
Charcot-Marie-Tooth disease axonal type 2X
Amyotrophic lateral sclerosis type 5

Criteria Provided
Conflicting Classifications

CA7533946

rs_200276333

7 SubmittersRCV000642530 RCV001507872 RCV002360574 RCV002467949 RCV002467948

NM_025137.4(SPG11):c.4490A>G (p.Asn1497Ser)

SNV
Germline

Chr15:44595404

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Condition: not provided
Charcot-Marie-Tooth disease axonal type 2X
Amyotrophic lateral sclerosis type 5
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7534658

rs_747973076

4 SubmittersRCV000642552 RCV001508756 RCV002467957 RCV002467956 RCV002530011

NM_000454.5(SOD1):c.443G>A (p.Gly148Asp)

SNV
Germline

Chr21:31668556

Pathogenic/Likely pathogenic

Amyotrophic lateral sclerosis type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA410037815

rs_1555836950

2 SubmittersRCV000644456 RCV001289239

NM_213720.3(CHCHD10):c.274G>A (p.Ala92Thr)

SNV
Germline

Chr22:23766263

Conflicting classifications of pathogenicity

Lower motor neuron syndrome with late-adult onset
Frontotemporal dementia and/or amyotrophic lateral sclerosis 2
Autosomal dominant mitochondrial myopathy with exercise intolerance
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10145271

rs_374353973

2 SubmittersRCV000650707 RCV002440358

NM_015046.7(SETX):c.2502A>G (p.Gly834=)

SNV
Germline

Chr9:132329096

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Hereditary spastic paraplegia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_762818441

7 SubmittersRCV000659130 RCV001287952 RCV001473215 RCV001849033 RCV002424561

NM_015046.7(SETX):c.895C>T (p.Arg299Cys)

SNV
Germline

Chr9:132331392

Conflicting classifications of pathogenicity

Distal spinal muscular atrophy
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4

Criteria Provided
Conflicting Classifications

rs_777182592

2 SubmittersRCV000664255 RCV001263157 RCV002530626

NM_000454.5(SOD1):c.112G>C (p.Gly38Arg)

SNV
Germline

Chr21:31663829

Pathogenic

Amyotrophic lateral sclerosis type 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_121912431

3 SubmittersRCV000664220

NM_025137.4(SPG11):c.6899T>G (p.Leu2300Arg)

SNV
Germline

Chr15:44565954

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 5
Hereditary spastic paraplegia 11
Hereditary spastic paraplegia 11
Amyotrophic lateral sclerosis type 5
Charcot-Marie-Tooth disease axonal type 2X

Criteria Provided
Conflicting Classifications

rs_371334506

3 SubmittersRCV000679859 RCV000806086 RCV002467984 RCV002467985

NM_025137.4(SPG11):c.4888G>T (p.Glu1630Ter)

SNV
Germline

Chr15:44589270

Pathogenic

Amyotrophic lateral sclerosis type 5
Hereditary spastic paraplegia 11
Hereditary spastic paraplegia 11
Amyotrophic lateral sclerosis type 5

Criteria Provided
Multiple Submitters
No Conflicts

rs_368276916

3 SubmittersRCV000680108 RCV001855629 RCV002467986

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

SNV
Germline

Chr2:74362702

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_145819459

4 SubmittersRCV000694263 RCV001811448 RCV002458247

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

SNV
Germline

Chr2:74372935

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_149447433

2 SubmittersRCV000685358 RCV002331324

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

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

rs_143914684

5 SubmittersRCV000688124 RCV001558947 RCV002422480 RCV003403590

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

SNV
Germline

Chr2:74366371

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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_778201974

3 SubmittersRCV000689468 RCV001139900 RCV001139901 RCV002458218

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

SNV
Germline

Chr2:74377999

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1393363759

4 SubmittersRCV000685402 RCV000991877 RCV001027493

NM_015046.7(SETX):c.4103G>T (p.Cys1368Phe)

SNV
Germline

Chr9:132327495

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Condition: not provided
SETX-related disorder

Criteria Provided
Conflicting Classifications

rs_1445388214

4 SubmittersRCV000689471 RCV002473107 RCV004535715

NM_015046.7(SETX):c.1343A>G (p.Asp448Gly)

SNV
Germline

Chr9:132330255

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_370363342

3 SubmittersRCV000695198 RCV000992929 RCV002386213

NM_005866.4(SIGMAR1):c.194T>A (p.Leu65Gln)

SNV
Germline

Chr9:34637378

Pathogenic/Likely pathogenic

Autosomal recessive distal spinal muscular atrophy 2
Amyotrophic lateral sclerosis type 16
Amyotrophic lateral sclerosis type 16

Criteria Provided
Multiple Submitters
No Conflicts

rs_140376902

2 SubmittersRCV000697805 RCV002272335

NM_015046.7(SETX):c.7660T>C (p.Phe2554Leu)

SNV
Germline

Chr9:132264613

Conflicting classifications of pathogenicity

Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_368269464

3 SubmittersRCV000689472 RCV002473108

NM_015046.7(SETX):c.1750C>G (p.Leu584Val)

SNV
Germline

Chr9:132329848

Conflicting classifications of pathogenicity

Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_764995848

3 SubmittersRCV000705240 RCV001759414 RCV002397476

NM_005866.4(SIGMAR1):c.632G>A (p.Arg211Gln)

SNV
Germline

Chr9:34635672

Conflicting classifications of pathogenicity

Autosomal recessive distal spinal muscular atrophy 2
Amyotrophic lateral sclerosis type 16
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_192644838

2 SubmittersRCV000694694 RCV004025212

NM_007126.5(VCP):c.1194+3G>A

SNV
Germline

Chr9:35061574

Conflicting classifications of pathogenicity

Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Condition: not provided
Inborn genetic diseases
VCP-related disorder

Criteria Provided
Conflicting Classifications

rs_183223259

6 SubmittersRCV000685579 RCV000733640 RCV002334250 RCV004535704

NM_015046.7(SETX):c.4369A>G (p.Ile1457Val)

SNV
Germline

Chr9:132327229

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_747804357

2 SubmittersRCV000703290 RCV003140115

NM_015046.7(SETX):c.3341T>C (p.Ile1114Thr)

SNV
Germline

Chr9:132328257

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_760535401

2 SubmittersRCV000688257 RCV002325367

NM_015046.7(SETX):c.1374T>G (p.Phe458Leu)

SNV
Germline

Chr9:132330224

Conflicting classifications of pathogenicity

Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Condition: not provided
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_201441886

5 SubmittersRCV000702549 RCV001662774 RCV001167523 RCV001167524 RCV002386256

NM_007126.5(VCP):c.374G>A (p.Gly125Asp)

SNV
Germline

Chr9:35066746

Conflicting classifications of pathogenicity

Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia

Criteria Provided
Conflicting Classifications

rs_1563980403

2 SubmittersRCV001809749 RCV002233201

NM_025137.4(SPG11):c.7249G>A (p.Glu2417Lys)

SNV
Germline

Chr15:44563204

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Condition: not provided
Inborn genetic diseases
Amyotrophic lateral sclerosis type 5
Charcot-Marie-Tooth disease axonal type 2X

Criteria Provided
Conflicting Classifications

rs_371313584

4 SubmittersRCV000685566 RCV001584551 RCV002369821 RCV002467995 RCV002467996

NM_013254.4(TBK1):c.1957G>C (p.Glu653Gln)

SNV
Germline

Chr12:64497257

Conflicting classifications of pathogenicity

Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
TBK1-related disorder

Criteria Provided
Conflicting Classifications

rs_144370662

2 SubmittersRCV000704095 RCV003980319

NM_025137.4(SPG11):c.763A>G (p.Lys255Glu)

SNV
Germline

Chr15:44657201

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Inborn genetic diseases
Amyotrophic lateral sclerosis type 5
Charcot-Marie-Tooth disease axonal type 2X
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_139091750

4 SubmittersRCV000696904 RCV002388274 RCV002468012 RCV002468013 RCV001799700

NM_015046.7(SETX):c.4828C>T (p.Leu1610Phe)

SNV
Germline

Chr9:132326770

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_749891883

4 SubmittersRCV000696941 RCV002334326 RCV002473117

NM_025137.4(SPG11):c.5270A>G (p.His1757Arg)

SNV
Germline

Chr15:44584410

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Condition: not provided
Inborn genetic diseases
Amyotrophic lateral sclerosis type 5
Charcot-Marie-Tooth disease axonal type 2X

Criteria Provided
Conflicting Classifications

rs_139423939

4 SubmittersRCV000686533 RCV000995317 RCV002343435 RCV002467999 RCV002468000

NM_025137.4(SPG11):c.5969A>G (p.Tyr1990Cys)

SNV
Germline

Chr15:44574939

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Inborn genetic diseases
Amyotrophic lateral sclerosis type 5
Hereditary spastic paraplegia 11
Charcot-Marie-Tooth disease axonal type 2X

Criteria Provided
Conflicting Classifications

rs_199920965

3 SubmittersRCV000685460 RCV002352108 RCV002493138

NM_025137.4(SPG11):c.5471G>A (p.Arg1824Gln)

SNV
Germline

Chr15:44584209

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Amyotrophic lateral sclerosis type 5
Hereditary spastic paraplegia 11
Charcot-Marie-Tooth disease axonal type 2X
Charcot-Marie-Tooth disease axonal type 2X
Condition: not provided
Amyotrophic lateral sclerosis type 5

Criteria Provided
Conflicting Classifications

rs_752401008

6 SubmittersRCV000692442 RCV000765211 RCV002468006 RCV003223668 RCV002468005

NM_000454.5(SOD1):c.122A>G (p.Glu41Gly)

SNV
Germline

Chr21:31663839

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 1

Criteria Provided
Conflicting Classifications

rs_1568809149

2 SubmittersRCV000697630

NM_004738.5(VAPB):c.58+5G>A

SNV
Germline

Chr20:58389522

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 8
Adult-onset proximal spinal muscular atrophy, autosomal dominant
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_753611165

2 SubmittersRCV002254568 RCV002352159

NM_025137.4(SPG11):c.6598A>T (p.Lys2200Ter)

SNV
Germline

Chr15:44567580

Pathogenic

Hereditary spastic paraplegia 11
Hereditary spastic paraplegia
SPG11-related disorder
Early-onset Parkinson disease 20
Amyotrophic lateral sclerosis type 5
Hereditary spastic paraplegia 11
Charcot-Marie-Tooth disease axonal type 2X

Criteria Provided
Multiple Submitters
No Conflicts

rs_141263564

6 SubmittersRCV000694024 RCV001849059 RCV003411614 RCV003447554 RCV003883160

NM_213720.3(CHCHD10):c.276T>A (p.Ala92=)

SNV
Germline

Chr22:23766261

Conflicting classifications of pathogenicity

Lower motor neuron syndrome with late-adult onset
Frontotemporal dementia and/or amyotrophic lateral sclerosis 2
Autosomal dominant mitochondrial myopathy with exercise intolerance
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_1252496774

2 SubmittersRCV000688111 RCV002440432

NM_000454.5(SOD1):c.301G>A (p.Glu101Lys)

SNV
Germline

Chr21:31667319

Pathogenic/Likely pathogenic

Amyotrophic lateral sclerosis type 1
Condition: not provided
Amyotrophic lateral sclerosis

Criteria Provided
Multiple Submitters
No Conflicts

rs_76731700

3 SubmittersRCV000696225 RCV000713400 RCV001843542

NM_213720.3(CHCHD10):c.312C>G (p.Tyr104Ter)

SNV
Germline

Chr22:23766225

Conflicting classifications of pathogenicity

Frontotemporal dementia and/or amyotrophic lateral sclerosis 2
Autosomal dominant mitochondrial myopathy with exercise intolerance
Lower motor neuron syndrome with late-adult onset
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_9153

2 SubmittersRCV000685394 RCV001268858

NM_000454.5(SOD1):c.268G>A (p.Ala90Thr)

SNV
Germline

Chr21:31667286

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1568810660

3 SubmittersRCV000687912 RCV000713398

NM_007375.4(TARDBP):c.669C>G (p.Pro223=)

SNV
Germline

Chr1:11020554

Conflicting classifications of pathogenicity

Condition: not provided
Amyotrophic lateral sclerosis type 10
Amyotrophic lateral sclerosis type 10
TARDBP-related frontotemporal dementia
Inborn genetic diseases
TARDBP-related disorder

Criteria Provided
Conflicting Classifications

rs_149517613

6 SubmittersRCV000713824 RCV001101666 RCV001467552 RCV003303206 RCV003965466

NM_015046.7(SETX):c.7516G>A (p.Ala2506Thr)

SNV
Germline

Chr9:132264757

Conflicting classifications of pathogenicity

Condition: not provided
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2

Criteria Provided
Conflicting Classifications

rs_1160553456

3 SubmittersRCV000713231 RCV001861987 RCV003338745

NM_015046.7(SETX):c.6292C>T (p.Arg2098Ter)

SNV
Germline

Chr9:132288268

Pathogenic

Condition: not provided
Amyotrophic lateral sclerosis type 4

Criteria Provided
Multiple Submitters
No Conflicts

rs_770684782

2 SubmittersRCV000713229 RCV003221304

NM_015046.7(SETX):c.5591A>C (p.Gln1864Pro)

SNV
Germline

Chr9:132298270

Conflicting classifications of pathogenicity

Condition: not provided
Amyotrophic lateral sclerosis type 4
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2

Criteria Provided
Conflicting Classifications

rs_375747001

4 SubmittersRCV000713222 RCV001644780 RCV002532951

NM_015046.7(SETX):c.4672A>G (p.Thr1558Ala)

SNV
Germline

Chr9:132326926

Conflicting classifications of pathogenicity

Condition: not provided
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Frontotemporal dementia

Criteria Provided
Conflicting Classifications

rs_764920626

4 SubmittersRCV000713215 RCV001165734 RCV001169728 RCV001861986 RCV001849076

NM_015046.7(SETX):c.3965C>A (p.Thr1322Asn)

SNV
Germline

Chr9:132327633

Conflicting classifications of pathogenicity

Condition: not provided
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Hereditary spastic paraplegia
Inborn genetic diseases
SETX-related disorder

Criteria Provided
Conflicting Classifications

rs_144900653

5 SubmittersRCV000713211 RCV001210286 RCV001849075 RCV002369984 RCV004544961

NM_015046.7(SETX):c.2750T>C (p.Met917Thr)

SNV
Germline

Chr9:132328848

Conflicting classifications of pathogenicity

Condition: not provided
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
not specified
SETX-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_376022544

7 SubmittersRCV000713201 RCV001042487 RCV002265868 RCV004535770 RCV002440565

NM_015046.7(SETX):c.2176T>C (p.Cys726Arg)

SNV
Germline

Chr9:132329422

Conflicting classifications of pathogenicity

Condition: not provided
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Inborn genetic diseases
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4

Criteria Provided
Conflicting Classifications

rs_377734748

6 SubmittersRCV000713200 RCV001232643 RCV002424738 RCV003233835 RCV003233836

NM_015046.7(SETX):c.1754A>G (p.Gln585Arg)

SNV
Germline

Chr9:132329844

Conflicting classifications of pathogenicity

Condition: not provided
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_188247474

4 SubmittersRCV000713199 RCV002532950 RCV002397497

NM_000454.5(SOD1):c.50G>C (p.Gly17Ala)

SNV
Germline

Chr21:31659819

Pathogenic/Likely pathogenic

Condition: not provided
Amyotrophic lateral sclerosis type 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1200906022

3 SubmittersRCV000713408 RCV001386880

NM_000454.5(SOD1):c.420C>A (p.Asn140Lys)

SNV
Germline

Chr21:31668533

Pathogenic

Condition: not provided
Amyotrophic lateral sclerosis type 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1804449

2 SubmittersRCV000713404 RCV001861989

NM_000454.5(SOD1):c.435G>C (p.Leu145Phe)

SNV
Germline

Chr21:31668548

Pathogenic

Condition: not provided
Amyotrophic lateral sclerosis type 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1482760341

5 SubmittersRCV000713407 RCV000808273

NM_007126.5(VCP):c.277C>T (p.Arg93Cys)

SNV
Germline

Chr9:35067916

Pathogenic

Condition: not provided
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6

Criteria Provided
Multiple Submitters
No Conflicts

rs_1554669087

4 SubmittersRCV000728008 RCV002233733

NM_007126.5(VCP):c.1863C>T (p.Gly621=)

SNV
Germline

Chr9:35059634

Conflicting classifications of pathogenicity

Condition: not provided
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_376510669

4 SubmittersRCV000728329 RCV001462593 RCV002406659

NM_007126.5(VCP):c.258A>G (p.Arg86=)

SNV
Germline

Chr9:35067935

Conflicting classifications of pathogenicity

Condition: not provided
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_1563980979

3 SubmittersRCV000729518 RCV001408701 RCV002424743

NM_007126.5(VCP):c.1242G>A (p.Leu414=)

SNV
Germline

Chr9:35061132

Conflicting classifications of pathogenicity

Condition: not provided
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_375262833

4 SubmittersRCV000729642 RCV001221457 RCV002386295

NM_007126.5(VCP):c.1488T>C (p.Pro496=)

SNV
Germline

Chr9:35060520

Conflicting classifications of pathogenicity

Condition: not provided
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_1563976866

3 SubmittersRCV000730972 RCV001402342 RCV002388365

NM_007126.5(VCP):c.284G>C (p.Arg95Pro)

SNV
Germline

Chr9:35067909

Conflicting classifications of pathogenicity

Condition: not provided
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6

Criteria Provided
Conflicting Classifications

rs_758169026

2 SubmittersRCV000731593 RCV001046936

NM_007126.5(VCP):c.340A>G (p.Ile114Val)

SNV
Germline

Chr9:35066780

Conflicting classifications of pathogenicity

Condition: not provided
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
Inborn genetic diseases
VCP-related disorder

Criteria Provided
Conflicting Classifications

rs_549915384

4 SubmittersRCV000733637 RCV000801185 RCV002332532 RCV004535869

NM_015046.7(SETX):c.5051C>G (p.Ser1684Cys)

SNV
Germline

Chr9:132326547

Conflicting classifications of pathogenicity

Condition: not provided
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Hereditary spastic paraplegia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_140116005

7 SubmittersRCV000757760 RCV001047649 RCV001849091 RCV002343608

NM_013254.4(TBK1):c.1069C>T (p.Arg357Ter)

SNV
Germline

Chr12:64484379

Pathogenic

Condition: not provided
Frontotemporal dementia and/or amyotrophic lateral sclerosis 4

Criteria Provided
Multiple Submitters
No Conflicts

rs_1328949478

2 SubmittersRCV000760459 RCV002536579

NM_015046.7(SETX):c.6013G>A (p.Val2005Met)

SNV
Germline

Chr9:132295965

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_148568105

4 SubmittersRCV000762580 RCV001662806 RCV001855957 RCV002352274

NM_015046.7(SETX):c.7330C>T (p.Arg2444Cys)

SNV
Germline

Chr9:132264943

Conflicting classifications of pathogenicity

Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_372535542

3 SubmittersRCV000778875 RCV001169582 RCV002386359

NM_001008212.2(OPTN):c.403G>T (p.Glu135Ter)

SNV
Germline

Chr10:13112486

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 12
Primary open angle glaucoma
Glaucoma 1, open angle, E
Primary open angle glaucoma
Amyotrophic lateral sclerosis type 12

Criteria Provided
Conflicting Classifications

rs_140599944

3 SubmittersRCV000778274 RCV001105536 RCV001869132

NM_001008212.2(OPTN):c.626+1G>A

SNV
Germline

Chr10:13116341

Conflicting classifications of pathogenicity

OPTN-related disorder
Glaucoma 1, open angle, E
Primary open angle glaucoma
Amyotrophic lateral sclerosis type 12
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_756957223

3 SubmittersRCV000778900 RCV001869138 RCV003344037

NM_020919.4(ALS2):c.4415C>T (p.Thr1472Met)

SNV
Germline

Chr2:201707011

Conflicting classifications of pathogenicity

Infantile-onset ascending hereditary spastic paralysis
ALS2-related disorder
Amyotrophic lateral sclerosis type 2, juvenile

Criteria Provided
Conflicting Classifications

rs_201089588

2 SubmittersRCV000803341 RCV001136863 RCV001136862

NM_020919.4(ALS2):c.3520A>T (p.Lys1174Ter)

SNV
Germline

Chr2:201723434

Pathogenic

Infantile-onset ascending hereditary spastic paralysis
Condition: not provided
Amyotrophic lateral sclerosis type 2, juvenile

Criteria Provided
Multiple Submitters
No Conflicts

rs_757972700

4 SubmittersRCV000800103 RCV002051896 RCV001375960

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

SNV
Germline

Chr2:74361624

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

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

Criteria Provided
Conflicting Classifications

rs_757034536

2 SubmittersRCV000812480 RCV002442720

NM_004082.5(DCTN1):c.3158C>T (p.Pro1053Leu)

SNV
Germline

Chr2:74365113

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_752079233

2 SubmittersRCV000811243 RCV002325581

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

Criteria Provided
Conflicting Classifications

rs_72659379

2 SubmittersRCV000810084 RCV002440741

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

SNV
Germline

Chr2:74370248

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_150368544

4 SubmittersRCV000803250 RCV001849104 RCV002537155 RCV003480838

NM_018834.6(MATR3):c.1132G>A (p.Ala378Thr)

SNV
Germline

Chr5:139317055

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 21
Condition: not provided
MATR3-related disorder

Criteria Provided
Conflicting Classifications

rs_201075828

6 SubmittersRCV000806815 RCV001683661 RCV004538106

NM_003900.5(SQSTM1):c.995C>G (p.Ser332Ter)

SNV
Germline

Chr5:179833612

Pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
Paget disease of bone 2, early-onset

Criteria Provided
Single Submitter

rs_1185406298

1 SubmittersRCV000795535

NM_015046.7(SETX):c.6122T>C (p.Ile2041Thr)

SNV
Germline

Chr9:132288636

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Condition: not provided
not specified
Inborn genetic diseases
SETX-related disorder

Criteria Provided
Conflicting Classifications

rs_140676924

7 SubmittersRCV000792834 RCV001169647 RCV001169648 RCV000992948 RCV001644824 RCV002352314 RCV004538088

NM_015046.7(SETX):c.6058A>G (p.Ile2020Val)

SNV
Germline

Chr9:132295920

Conflicting classifications of pathogenicity

Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_546932016

2 SubmittersRCV000793058 RCV003344049

NM_015046.7(SETX):c.5473A>G (p.Thr1825Ala)

SNV
Germline

Chr9:132300705

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Condition: not provided
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Inborn genetic diseases
SETX-related disorder

Criteria Provided
Conflicting Classifications

rs_151046729

5 SubmittersRCV000821447 RCV000992944 RCV001167265 RCV001167266 RCV002345897 RCV004540119

NM_015046.7(SETX):c.4906A>G (p.Lys1636Glu)

SNV
Germline

Chr9:132326692

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Inborn genetic diseases
Condition: not provided
Amyotrophic lateral sclerosis type 4

Criteria Provided
Conflicting Classifications

rs_368931174

4 SubmittersRCV000795164 RCV002334477 RCV002272358 RCV002290435

NM_015046.7(SETX):c.3650C>T (p.Thr1217Met)

SNV
Germline

Chr9:132327948

Conflicting classifications of pathogenicity

Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_140892948

2 SubmittersRCV000794210 RCV002458415

NM_015046.7(SETX):c.3040A>G (p.Ile1014Val)

SNV
Germline

Chr9:132328558

Conflicting classifications of pathogenicity

Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Inborn genetic diseases
Condition: not provided
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4

Criteria Provided
Conflicting Classifications

rs_761243379

6 SubmittersRCV000795770 RCV002442634 RCV002473139 RCV003233851 RCV003233852

NM_015046.7(SETX):c.2399G>T (p.Arg800Met)

SNV
Germline

Chr9:132329199

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Condition: not provided
Inborn genetic diseases
Tay-Sachs disease

Criteria Provided
Conflicting Classifications

rs_761725498

4 SubmittersRCV000820064 RCV001311798 RCV002442748 RCV002290467

NM_025137.4(SPG11):c.4436G>A (p.Gly1479Asp)

SNV
Germline

Chr15:44595458

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Amyotrophic lateral sclerosis type 5
Charcot-Marie-Tooth disease axonal type 2X
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_374303102

4 SubmittersRCV000811250 RCV002468060 RCV002468061 RCV002538091 RCV001597216

NM_025137.4(SPG11):c.3809T>A (p.Val1270Asp)

SNV
Germline

Chr15:44598714

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 11
Amyotrophic lateral sclerosis type 5

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555451521

2 SubmittersRCV000818278 RCV002249527

NM_025137.4(SPG11):c.1775C>T (p.Ser592Leu)

SNV
Germline

Chr15:44629349

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Condition: not provided
Inborn genetic diseases
Charcot-Marie-Tooth disease axonal type 2X
Amyotrophic lateral sclerosis type 5

Criteria Provided
Conflicting Classifications

rs_373796566

5 SubmittersRCV000811249 RCV001593001 RCV002397668 RCV002468059 RCV002468058

NM_213720.3(CHCHD10):c.196G>A (p.Gly66Ser)

SNV
Germline

Chr22:23767439

Conflicting classifications of pathogenicity

Lower motor neuron syndrome with late-adult onset
Frontotemporal dementia and/or amyotrophic lateral sclerosis 2
Autosomal dominant mitochondrial myopathy with exercise intolerance
Inborn genetic diseases
Condition: not provided
CHCHD10-related disorder

Criteria Provided
Conflicting Classifications

rs_374211312

4 SubmittersRCV000812293 RCV002422795 RCV003145171 RCV003411792

NM_014845.6(FIG4):c.1271+5A>G

SNV
Germline

Chr6:109760388

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4
Amyotrophic lateral sclerosis type 11
Charcot-Marie-Tooth disease type 4J
FIG4-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_374583399

5 SubmittersRCV001173274 RCV000821312 RCV001158266 RCV001158267 RCV003908110 RCV002372344

NM_013254.4(TBK1):c.701+1G>A

SNV
Germline

Chr12:64474391

Pathogenic/Likely pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
Amyotrophic lateral sclerosis
TBK1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_1592362719

3 SubmittersRCV000797764 RCV001843550 RCV003411753

NM_000454.5(SOD1):c.290A>T (p.Asp97Val)

SNV
Unknown

Chr21:31667308

Likely pathogenic

Amyotrophic lateral sclerosis type 1

Criteria Provided
Single Submitter

rs_1555836803

1 SubmittersRCV000853537

NM_020919.4(ALS2):c.1718C>A (p.Ala573Glu)

SNV
Germline

Chr2:201753165

Likely pathogenic

Infantile-onset ascending hereditary spastic paralysis
Amyotrophic lateral sclerosis type 2, juvenile

Criteria Provided
Multiple Submitters
No Conflicts

rs_763455928

2 SubmittersRCV001089471 RCV001095477

NM_000454.5(SOD1):c.317C>T (p.Ser106Leu)

SNV
Germline

Chr21:31667335

Pathogenic

Amyotrophic lateral sclerosis
Amyotrophic lateral sclerosis type 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1378590183

2 SubmittersRCV000857231 RCV001858533

NM_020919.4(ALS2):c.1627G>A (p.Asp543Asn)

SNV
Germline

Chr2:201754516

Conflicting classifications of pathogenicity

ALS2-related disorder
Infantile-onset ascending hereditary spastic paralysis
Amyotrophic lateral sclerosis type 2, juvenile
Hereditary spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_201161419

6 SubmittersRCV001143735 RCV000862041 RCV001143736 RCV001849153 RCV001672966

NM_014845.6(FIG4):c.658A>G (p.Ile220Val)

SNV
Germline

Chr6:109738336

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4J
Charcot-Marie-Tooth disease
Amyotrophic lateral sclerosis type 11
Charcot-Marie-Tooth disease type 4
Inborn genetic diseases
FIG4-related disorder

Criteria Provided
Conflicting Classifications

rs_565096937

5 SubmittersRCV001154807 RCV001172965 RCV001154808 RCV000860529 RCV002372390 RCV003892776

NM_020919.4(ALS2):c.396G>A (p.Pro132=)

SNV
Germline

Chr2:201761598

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 2, juvenile
ALS2-related disorder
Infantile-onset ascending hereditary spastic paralysis

Criteria Provided
Conflicting Classifications

rs_374978798

2 SubmittersRCV001142052 RCV001142051 RCV002539027

NM_020919.4(ALS2):c.366G>A (p.Gln122=)

SNV
Germline

Chr2:201761628

Conflicting classifications of pathogenicity

ALS2-related disorder
Amyotrophic lateral sclerosis type 2, juvenile
Infantile-onset ascending hereditary spastic paralysis
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_775483404

3 SubmittersRCV001142056 RCV001142055 RCV000866239 RCV001847066

NM_020919.4(ALS2):c.2912+8C>T

SNV
Germline

Chr2:201727697

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 2, juvenile
ALS2-related disorder
Hereditary spastic paraplegia
Infantile-onset ascending hereditary spastic paralysis

Criteria Provided
Conflicting Classifications

rs_528131651

3 SubmittersRCV001141832 RCV001141833 RCV001847072 RCV002538983

NM_014043.4(CHMP2B):c.64C>T (p.Arg22Ter)

SNV
Germline

Chr3:87240728

Conflicting classifications of pathogenicity

Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
Condition: not provided
CHMP2B-related disorder

Criteria Provided
Conflicting Classifications

rs_138886714

4 SubmittersRCV001148368 RCV001759655 RCV003392657

NM_003900.5(SQSTM1):c.295A>C (p.Ile99Leu)

SNV
Germline

Chr5:179823047

Conflicting classifications of pathogenicity

Paget disease of bone 2, early-onset
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_537142935

2 SubmittersRCV000878251 RCV003141887

NM_003900.5(SQSTM1):c.328C>T (p.Arg110Cys)

SNV
Germline

Chr5:179823884

Conflicting classifications of pathogenicity

Paget disease of bone 2, early-onset
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
Condition: not provided
SQSTM1-related disorder

Criteria Provided
Conflicting Classifications

rs_139372286

3 SubmittersRCV000877000 RCV001655632 RCV004530863

NM_003900.5(SQSTM1):c.513C>G (p.Pro171=)

SNV
Germline

Chr5:179824069

Conflicting classifications of pathogenicity

Paget disease of bone 2, early-onset
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
Paget disease of bone 3
Condition: not provided
SQSTM1-related disorder

Criteria Provided
Conflicting Classifications

rs_199931327

4 SubmittersRCV000876784 RCV001151637 RCV003432850 RCV004541755

NM_003900.5(SQSTM1):c.547C>T (p.Arg183Cys)

SNV
Germline

Chr5:179824197

Conflicting classifications of pathogenicity

Paget disease of bone 2, early-onset
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_567433223

5 SubmittersRCV000877928 RCV001724184

NM_015046.7(SETX):c.7092T>C (p.Asp2364=)

SNV
Germline

Chr9:132275264

Conflicting classifications of pathogenicity

Condition: not provided
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2

Criteria Provided
Conflicting Classifications

rs_144607919

2 SubmittersRCV000875363 RCV001088640

NM_015046.7(SETX):c.7089C>T (p.Phe2363=)

SNV
Germline

Chr9:132275267

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2

Criteria Provided
Conflicting Classifications

rs_141497098

2 SubmittersRCV000876529 RCV001165607 RCV001165608

NM_015046.7(SETX):c.81C>T (p.Ser27=)

SNV
Germline

Chr9:132349348

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
not specified
Hereditary spastic paraplegia
SETX-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_149229231

6 SubmittersRCV000873708 RCV001288751 RCV001847094 RCV004540253 RCV003117630

NM_001008212.2(OPTN):c.1559G>A (p.Arg520His)

SNV
Germline

Chr10:13133528

Conflicting classifications of pathogenicity

Condition: not provided
Primary open angle glaucoma
Amyotrophic lateral sclerosis type 12
Glaucoma 1, open angle, E
OPTN-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_200088838

5 SubmittersRCV000873765 RCV002064742 RCV004530815 RCV002399947

NM_005235.3(ERBB4):c.1122T>G (p.His374Gln)

SNV
Germline

Chr2:211712052

Conflicting classifications of pathogenicity

Condition: not provided
Amyotrophic lateral sclerosis type 19
Amyotrophic lateral sclerosis
ERBB4-related disorder

Criteria Provided
Conflicting Classifications

rs_76603692

7 SubmittersRCV000949889 RCV001420686 RCV001260199 RCV003925915

NM_018834.6(MATR3):c.2318A>C (p.Tyr773Ser)

SNV
Germline

Chr5:139325609

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 21
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_368217486

3 SubmittersRCV000951885 RCV003169466

NM_007126.5(VCP):c.732C>T (p.Tyr244=)

SNV
Germline

Chr9:35063057

Conflicting classifications of pathogenicity

Condition: not provided
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6

Criteria Provided
Conflicting Classifications

rs_201610567

2 SubmittersRCV000946065 RCV001395321

NM_018834.6(MATR3):c.2114G>T (p.Ser705Ile)

SNV
Germline

Chr5:139322933

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 21

Criteria Provided
Conflicting Classifications

rs_201970174

2 SubmittersRCV001153796

NM_001145122.2(CAPN14):c.1249C>T (p.Leu417Phe)

SNV
Germline

Chr2:31191964

Conflicting classifications of pathogenicity

Condition: not provided
Amyotrophic lateral sclerosis

Criteria Provided
Conflicting Classifications

rs_181906086

2 SubmittersRCV000890433 RCV001260194

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

SNV
Germline

Chr2:74366528

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_770872113

3 SubmittersRCV000902820 RCV001139903 RCV001139902 RCV003958170

NM_020919.4(ALS2):c.2541C>T (p.Tyr847=)

SNV
Germline

Chr2:201733315

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 2, juvenile
ALS2-related disorder
Infantile-onset ascending hereditary spastic paralysis

Criteria Provided
Conflicting Classifications

rs_181782027

2 SubmittersRCV001143637 RCV001143636 RCV001460449

NM_020919.4(ALS2):c.1640+10A>G

SNV
Germline

Chr2:201754493

Conflicting classifications of pathogenicity

Condition: not provided
Amyotrophic lateral sclerosis type 2, juvenile
ALS2-related disorder

Criteria Provided
Conflicting Classifications

rs_755148474

2 SubmittersRCV000920182 RCV001141939 RCV001143734

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

SNV
Germline

Chr2:74366576

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_377519506

3 SubmittersRCV000932597 RCV001394946

NM_018834.6(MATR3):c.1778+3A>G

SNV
Germline

Chr5:139322509

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 21

Criteria Provided
Conflicting Classifications

rs_568895329

2 SubmittersRCV000950943

NM_003900.5(SQSTM1):c.205+7G>C

SNV
Germline

Chr5:179821148

Conflicting classifications of pathogenicity

Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
Paget disease of bone 2, early-onset
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_912066047

3 SubmittersRCV000951194 RCV003141903

NM_005235.3(ERBB4):c.2207T>A (p.Ile736Asn)

SNV
Unknown

Chr2:211619271

Likely pathogenic

Amyotrophic lateral sclerosis type 19

Criteria Provided
Single Submitter

rs_1574867228

1 SubmittersRCV000987001

NM_145868.2(ANXA11):c.118G>T (p.Asp40Tyr)

SNV
Germline

Chr10:80170853

Pathogenic/Likely pathogenic

Amyotrophic lateral sclerosis type 23
Inclusion body myopathy and brain white matter abnormalities
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_368751524

6 SubmittersRCV000988396 RCV001836926 RCV002549708

NM_004960.4(FUS):c.1540A>T (p.Arg514Trp)

SNV
Unknown

Chr16:31191109

Likely pathogenic

Amyotrophic lateral sclerosis type 6

Criteria Provided
Single Submitter

rs_1555509609

1 SubmittersRCV000989598

NM_020919.4(ALS2):c.2104G>T (p.Glu702Ter)

SNV
Germline

Chr2:201744324

Likely pathogenic

Juvenile primary lateral sclerosis
Amyotrophic lateral sclerosis type 2, juvenile
Infantile-onset ascending hereditary spastic paralysis

Criteria Provided
Single Submitter

rs_1574748038

1 SubmittersRCV000991370

NM_020919.4(ALS2):c.601C>T (p.Arg201Ter)

SNV
Germline

Chr2:201761393

Pathogenic/Likely pathogenic

Amyotrophic lateral sclerosis type 2, juvenile
Infantile-onset ascending hereditary spastic paralysis
Juvenile primary lateral sclerosis
Amyotrophic lateral sclerosis type 2, juvenile
Infantile-onset ascending hereditary spastic paralysis

Criteria Provided
Multiple Submitters
No Conflicts

rs_1574787779

4 SubmittersRCV000991371 RCV001030773 RCV000995488

NM_015046.7(SETX):c.7195A>G (p.Ile2399Val)

SNV
Germline

Chr9:132271714

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Condition: not provided
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Inborn genetic diseases
Amyotrophic lateral sclerosis type 4

Criteria Provided
Conflicting Classifications

rs_150489999

4 SubmittersRCV001041927 RCV000992958 RCV003233909 RCV004030150 RCV003233910

NM_015046.7(SETX):c.7073A>G (p.Asp2358Gly)

SNV
Germline

Chr9:132275283

Conflicting classifications of pathogenicity

Condition: not provided
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
SETX-related disorder

Criteria Provided
Conflicting Classifications

rs_770469636

3 SubmittersRCV000992956 RCV003769317 RCV004536024

NM_015046.7(SETX):c.6829T>C (p.Leu2277=)

SNV
Germline

Chr9:132278083

Conflicting classifications of pathogenicity

Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Condition: not provided
Amyotrophic lateral sclerosis type 4
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2

Criteria Provided
Conflicting Classifications

rs_189444354

3 SubmittersRCV001167194 RCV000992954 RCV001167193 RCV002550648

NM_015046.7(SETX):c.6029A>G (p.Asn2010Ser)

SNV
Germline

Chr9:132295949

Conflicting classifications of pathogenicity

Condition: not provided
Amyotrophic lateral sclerosis type 4

Criteria Provided
Conflicting Classifications

rs_759806045

4 SubmittersRCV000992947 RCV001391614

NM_015046.7(SETX):c.5278G>A (p.Ala1760Thr)

SNV
Germline

Chr9:132311853

Conflicting classifications of pathogenicity

Condition: not provided
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2

Criteria Provided
Conflicting Classifications

rs_764316153

3 SubmittersRCV000992941 RCV003233898 RCV003233899 RCV001858763

NM_015046.7(SETX):c.5083C>T (p.Gln1695Ter)

SNV
Germline

Chr9:132326515

Pathogenic/Likely pathogenic

Condition: not provided
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2

Criteria Provided
Multiple Submitters
No Conflicts

rs_1589734405

3 SubmittersRCV000992940 RCV003233897 RCV002549816

NM_015046.7(SETX):c.3587A>G (p.Asn1196Ser)

SNV
Germline

Chr9:132328011

Conflicting classifications of pathogenicity

Condition: not provided
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2

Criteria Provided
Conflicting Classifications

rs_376381668

2 SubmittersRCV000992933 RCV001060744

NM_015046.7(SETX):c.546C>A (p.Asp182Glu)

SNV
Germline

Chr9:132336468

Conflicting classifications of pathogenicity

Condition: not provided
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_199748733

3 SubmittersRCV000992943 RCV002549817 RCV002346197

NM_004960.4(FUS):c.676G>A (p.Gly226Ser)

SNV
Germline

Chr16:31185091

Conflicting classifications of pathogenicity

Condition: not provided
Amyotrophic lateral sclerosis type 6
Tremor, hereditary essential, 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_758970940

3 SubmittersRCV000992011 RCV001056530 RCV002363515

NM_000454.5(SOD1):c.229G>T (p.Asp77Tyr)

SNV
Germline

Chr21:31666508

Pathogenic/Likely pathogenic

Condition: not provided
Amyotrophic lateral sclerosis type 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1601157750

2 SubmittersRCV000993040 RCV001858765

NM_000454.5(SOD1):c.346C>G (p.Arg116Gly)

SNV
Germline

Chr21:31667364

Pathogenic/Likely pathogenic

Condition: not provided
Amyotrophic lateral sclerosis type 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1301635320

4 SubmittersRCV000993042 RCV002290508

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

rs_1393363759

3 SubmittersRCV000991876 RCV001858742

NM_015046.7(SETX):c.839-6T>C

SNV
Germline

Chr9:132331454

Conflicting classifications of pathogenicity

Condition: not provided
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
not specified

Criteria Provided
Conflicting Classifications

rs_760584527

4 SubmittersRCV000992961 RCV002549820 RCV004526058

NM_001008212.2(OPTN):c.1149-2A>G

SNV
Germline

Chr10:13125944

Likely pathogenic

Condition: not provided
Glaucoma 1, open angle, E
Primary open angle glaucoma
Amyotrophic lateral sclerosis type 12

Criteria Provided
Multiple Submitters
No Conflicts

rs_867368757

3 SubmittersRCV000992464 RCV002549795

NM_015046.7(SETX):c.4390C>T (p.Pro1464Ser)

SNV
Germline

Chr9:132327208

Conflicting classifications of pathogenicity

Condition: not provided
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4

Criteria Provided
Conflicting Classifications

rs_756080695

2 SubmittersRCV000999254 RCV002550734

NM_001097577.3(ANG):c.3G>A (p.Met1Ile)

SNV
Germline

Chr14:20693567

Conflicting classifications of pathogenicity

Condition: not provided
Amyotrophic lateral sclerosis type 9
Amyotrophic lateral sclerosis type 10
ANG-related disorder

Criteria Provided
Conflicting Classifications

rs_201068740

6 SubmittersRCV000995107 RCV001112905 RCV002463771 RCV003413785

NM_004960.4(FUS):c.188A>G (p.Asn63Ser)

SNV
Germline

Chr16:31182662

Conflicting classifications of pathogenicity

Condition: not provided
Amyotrophic lateral sclerosis type 6
Tremor, hereditary essential, 4
Inborn genetic diseases
FUS-related disorder

Criteria Provided
Conflicting Classifications

rs_140883211

4 SubmittersRCV000996260 RCV001858833 RCV002409325 RCV003928643

NM_000454.5(SOD1):c.352C>G (p.Leu118Val)

SNV
Germline

Chr21:31667370

Conflicting classifications of pathogenicity

Condition: not provided
Amyotrophic lateral sclerosis type 1

Criteria Provided
Conflicting Classifications

rs_199474723

3 SubmittersRCV000997817 RCV001095396

NM_015046.7(SETX):c.6464T>G (p.Leu2155Trp)

SNV
Germline

Chr9:132283346

Conflicting classifications of pathogenicity

Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1473613373

3 SubmittersRCV000995872 RCV001858823 RCV003229872

NM_013254.4(TBK1):c.87G>A (p.Lys29=)

SNV
Germline

Chr12:64455957

Pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 4

Criteria Provided
Single Submitter

rs_1592350887

1 SubmittersRCV000995895

NM_013254.4(TBK1):c.427C>T (p.Arg143Cys)

SNV
Germline

Chr12:64466969

Conflicting classifications of pathogenicity

Frontotemporal dementia and/or amyotrophic lateral sclerosis 4

Criteria Provided
Conflicting Classifications

rs_1027249002

2 SubmittersRCV000995896

NM_013254.4(TBK1):c.992+1G>A

SNV
Germline

Chr12:64482022

Pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8
Amyotrophic lateral sclerosis

Criteria Provided
Multiple Submitters
No Conflicts

rs_1341055534

4 SubmittersRCV000995897 RCV001196463 RCV003333118

NM_000454.5(SOD1):c.146A>G (p.His49Arg)

SNV
Germline

Chr21:31663863

Pathogenic/Likely pathogenic

Amyotrophic lateral sclerosis type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1568809172

4 SubmittersRCV000995880 RCV003886463

NM_015046.7(SETX):c.1505G>A (p.Arg502Gln)

SNV
Germline

Chr9:132330093

Conflicting classifications of pathogenicity

not specified
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2

Criteria Provided
Conflicting Classifications

rs_750044197

3 SubmittersRCV001000858 RCV002549143 RCV003233920 RCV003233919

NM_015046.7(SETX):c.1221A>G (p.Thr407=)

SNV
Germline

Chr9:132330377

Conflicting classifications of pathogenicity

not specified
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
SETX-related disorder

Criteria Provided
Conflicting Classifications

rs_377618570

4 SubmittersRCV001000987 RCV001168148 RCV001167525 RCV001499712 RCV004536039

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

SNV
Germline

Chr2:74370247

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

rs_142318791

3 SubmittersRCV001047005 RCV002553156 RCV003973033

NM_003900.5(SQSTM1):c.1211T>C (p.Met404Thr)

SNV
Germline

Chr5:179836481

Pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
Paget disease of bone 2, early-onset

Criteria Provided
Single Submitter

rs_1247551175

1 SubmittersRCV001060204

NM_015046.7(SETX):c.7982A>G (p.Lys2661Arg)

SNV
Germline

Chr9:132264291

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Condition: not provided
Inborn genetic diseases
SETX-related disorder

Criteria Provided
Conflicting Classifications

rs_199921065

5 SubmittersRCV001044932 RCV002261259 RCV002409408 RCV004545025

NM_015046.7(SETX):c.6161G>A (p.Ser2054Asn)

SNV
Germline

Chr9:132288597

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_200778360

3 SubmittersRCV001038594 RCV001167775 RCV001169646 RCV003141950

NM_015046.7(SETX):c.5503G>A (p.Glu1835Lys)

SNV
Germline

Chr9:132300675

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Condition: not provided
Amyotrophic lateral sclerosis type 4
Inborn genetic diseases
SETX-related disorder
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2

Criteria Provided
Conflicting Classifications

rs_143133190

5 SubmittersRCV001060795 RCV002473187 RCV003233943 RCV002348441 RCV004536120 RCV003233942

NM_015046.7(SETX):c.5071C>A (p.Leu1691Ile)

SNV
Germline

Chr9:132326527

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Condition: not provided
SETX-related disorder

Criteria Provided
Conflicting Classifications

rs_756770572

4 SubmittersRCV001067074 RCV001288406 RCV004536130

NM_015046.7(SETX):c.3299A>C (p.Asn1100Thr)

SNV
Germline

Chr9:132328299

Conflicting classifications of pathogenicity

Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_545072717

2 SubmittersRCV001058491 RCV003425902

NM_015046.7(SETX):c.1066G>A (p.Val356Ile)

SNV
Germline

Chr9:132331084

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Condition: not provided
Inborn genetic diseases
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4

Criteria Provided
Conflicting Classifications

rs_143270460

5 SubmittersRCV001048687 RCV001508272 RCV002409420 RCV003233938 RCV003233939

NM_015046.7(SETX):c.820A>G (p.Met274Val)

SNV
Germline

Chr9:132334626

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Inborn genetic diseases
Condition: not provided
SETX-related disorder

Criteria Provided
Conflicting Classifications

rs_753713810

4 SubmittersRCV001037092 RCV004031020 RCV002473168 RCV004536065

NM_025137.4(SPG11):c.5011C>T (p.His1671Tyr)

SNV
Germline

Chr15:44585746

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Condition: not provided
Amyotrophic lateral sclerosis type 5
Charcot-Marie-Tooth disease axonal type 2X

Criteria Provided
Conflicting Classifications

rs_141011688

3 SubmittersRCV001045168 RCV001759961 RCV002468119 RCV002468120

NM_025137.4(SPG11):c.4873C>T (p.Leu1625Phe)

SNV
Germline

Chr15:44589285

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Condition: not provided
Inborn genetic diseases
Charcot-Marie-Tooth disease axonal type 2X
Amyotrophic lateral sclerosis type 5

Criteria Provided
Conflicting Classifications

rs_371716779

4 SubmittersRCV001042695 RCV001759744 RCV002339213 RCV002468115 RCV002468114

NM_025137.4(SPG11):c.3558C>G (p.Asp1186Glu)

SNV
Germline

Chr15:44600595

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Condition: not provided
Inborn genetic diseases
Amyotrophic lateral sclerosis type 5
Charcot-Marie-Tooth disease axonal type 2X

Criteria Provided
Conflicting Classifications

rs_201902382

4 SubmittersRCV001065139 RCV001287997 RCV002339328 RCV002468140 RCV002468141

NM_025137.4(SPG11):c.1384T>C (p.Cys462Arg)

SNV
Germline

Chr15:44651563

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Inborn genetic diseases
Condition: not provided
Amyotrophic lateral sclerosis type 5
Charcot-Marie-Tooth disease axonal type 2X

Criteria Provided
Conflicting Classifications

rs_139019255

5 SubmittersRCV001063652 RCV002393309 RCV001862795 RCV002468135 RCV002468136

NM_025137.4(SPG11):c.1121C>G (p.Ser374Cys)

SNV
Germline

Chr15:44651826

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Condition: not provided
Amyotrophic lateral sclerosis type 5
Charcot-Marie-Tooth disease axonal type 2X

Criteria Provided
Conflicting Classifications

rs_144403346

3 SubmittersRCV001045167 RCV001759765 RCV002468117 RCV002468118

NM_004960.4(FUS):c.238G>A (p.Gly80Ser)

SNV
Germline

Chr16:31183905

Conflicting classifications of pathogenicity

Tremor, hereditary essential, 4
Amyotrophic lateral sclerosis type 6
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_776474571

2 SubmittersRCV001055722 RCV003363084

NM_000744.7(CHRNA4):c.979G>A (p.Val327Met)

SNV
Germline

Chr20:63350432

Conflicting classifications of pathogenicity

Autosomal dominant nocturnal frontal lobe epilepsy
Amyotrophic lateral sclerosis

Criteria Provided
Conflicting Classifications

rs_201841018

2 SubmittersRCV001036363 RCV001095404

NM_000454.5(SOD1):c.63C>G (p.Phe21Leu)

SNV
Germline

Chr21:31659832

Likely pathogenic

Amyotrophic lateral sclerosis type 1

Criteria Provided
Single Submitter

rs_1555836170

1 SubmittersRCV001065949

NM_000454.5(SOD1):c.255G>C (p.Leu85Phe)

SNV
Germline

Chr21:31667273

Pathogenic

Amyotrophic lateral sclerosis type 1

Criteria Provided
Single Submitter

rs_1315541036

1 SubmittersRCV001061075

NM_000454.5(SOD1):c.263T>C (p.Val88Ala)

SNV
Germline

Chr21:31667281

Likely pathogenic

Amyotrophic lateral sclerosis type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1339283341

2 SubmittersRCV001064307 RCV003132202

NM_004960.4(FUS):c.1541+1G>A

SNV
Germline

Chr16:31191111

Pathogenic

Amyotrophic lateral sclerosis type 6
Tremor, hereditary essential, 4

Criteria Provided
Single Submitter

rs_2079351113

1 SubmittersRCV001050825

NM_014043.4(CHMP2B):c.206G>A (p.Arg69Gln)

SNV
Germline

Chr3:87245793

Conflicting classifications of pathogenicity

Condition: not provided
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7

Criteria Provided
Conflicting Classifications

rs_200792883

3 SubmittersRCV001092352 RCV001241565

NM_015046.7(SETX):c.1288G>A (p.Ala430Thr)

SNV
Germline

Chr9:132330310

Conflicting classifications of pathogenicity

Condition: not provided
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2

Criteria Provided
Conflicting Classifications

rs_778488721

2 SubmittersRCV001093200 RCV002554866

NM_015046.7(SETX):c.377A>G (p.His126Arg)

SNV
Germline

Chr9:132346272

Conflicting classifications of pathogenicity

Condition: not provided
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
SETX-related disorder

Criteria Provided
Conflicting Classifications

rs_368932301

4 SubmittersRCV001093201 RCV001242996 RCV004536143

NM_013444.4(UBQLN2):c.1274A>G (p.Gln425Arg)

SNV
Germline

ChrX:56565147

Conflicting classifications of pathogenicity

Condition: not provided
Amyotrophic lateral sclerosis type 15

Criteria Provided
Conflicting Classifications

rs_1243726473

2 SubmittersRCV001092792 RCV003526032

NM_007375.4(TARDBP):c.893G>T (p.Gly298Val)

SNV
Germline

Chr1:11022302

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 10
Amyotrophic lateral sclerosis type 10
TARDBP-related frontotemporal dementia

Criteria Provided
Conflicting Classifications

rs_1643653768

2 SubmittersRCV001095402 RCV002555973

NM_007375.4(TARDBP):c.1060C>G (p.Gln354Glu)

SNV
Germline

Chr1:11022469

Likely pathogenic

Amyotrophic lateral sclerosis type 10

Criteria Provided
Single Submitter

rs_1643659556

1 SubmittersRCV001095433

NM_020631.6(PLEKHG5):c.1889C>A (p.Pro630His)

SNV
Germline

Chr1:6469588

Likely pathogenic

Juvenile amyotrophic lateral sclerosis

Criteria Provided
Single Submitter

rs_1644506661

1 SubmittersRCV001095533

NM_020631.6(PLEKHG5):c.1417C>T (p.Gln473Ter)

SNV
Germline

Chr1:6470860

Pathogenic

Juvenile amyotrophic lateral sclerosis

Criteria Provided
Single Submitter

rs_1435710212

1 SubmittersRCV001095532

NM_007262.5(PARK7):c.133C>T (p.Gln45Ter)

SNV
Germline

Chr1:7965366

Pathogenic

Amyotrophic lateral sclerosis-parkinsonism-dementia complex

Criteria Provided
Single Submitter

rs_1553122918

1 SubmittersRCV001095538

NM_020919.4(ALS2):c.4808C>T (p.Pro1603Leu)

SNV
Germline

Chr2:201704484

Likely pathogenic

Amyotrophic lateral sclerosis type 2, juvenile

Criteria Provided
Single Submitter

rs_1689580631

1 SubmittersRCV001095480

NM_020919.4(ALS2):c.4381C>T (p.Arg1461Ter)

SNV
Germline

Chr2:201707891

Pathogenic

Amyotrophic lateral sclerosis type 2, juvenile
Infantile-onset ascending hereditary spastic paralysis

Criteria Provided
Multiple Submitters
No Conflicts

rs_374047961

4 SubmittersRCV001095479 RCV001391373

NM_005235.3(ERBB4):c.3334C>T (p.Arg1112Cys)

SNV
Germline

Chr2:211387000

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 19
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_144311212

2 SubmittersRCV001095390 RCV001856284

NM_005235.3(ERBB4):c.308G>A (p.Arg103His)

SNV
Germline

Chr2:211947543

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis
Condition: not provided
ERBB4-related disorder

Criteria Provided
Conflicting Classifications

rs_754487821

3 SubmittersRCV001095485 RCV002554875 RCV003396744

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

SNV
Germline

Chr2:74365985

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_373818927

3 SubmittersRCV001095496 RCV002554876 RCV003396746

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

rs_751177222

2 SubmittersRCV001095500 RCV001856287

NM_014845.6(FIG4):c.1448G>A (p.Arg483Gln)

SNV
Germline

Chr6:109765026

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_749233172

2 SubmittersRCV001095517 RCV001555730

NM_182961.4(SYNE1):c.23524C>T (p.Arg7842Ter)

SNV
Germline

Chr6:152176497

Pathogenic

Juvenile amyotrophic lateral sclerosis

Criteria Provided
Single Submitter

rs_775935265

1 SubmittersRCV001095483

NM_182961.4(SYNE1):c.22930C>T (p.Gln7644Ter)

SNV
Germline

Chr6:152206257

Pathogenic

Juvenile amyotrophic lateral sclerosis

Criteria Provided
Single Submitter

rs_2076486420

1 SubmittersRCV001095482

NM_015046.7(SETX):c.5839G>A (p.Ala1947Thr)

SNV
Germline

Chr9:132296997

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 4
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2

Criteria Provided
Conflicting Classifications

rs_141440621

3 SubmittersRCV001095430 RCV001211387 RCV003233947

NM_005866.4(SIGMAR1):c.451A>G (p.Thr151Ala)

SNV
Germline

Chr9:34635853

Likely pathogenic

Amyotrophic lateral sclerosis type 16

Criteria Provided
Single Submitter

rs_1820836522

1 SubmittersRCV001095535

NM_005866.4(SIGMAR1):c.448G>A (p.Glu150Lys)

SNV
Germline

Chr9:34635856

Likely pathogenic

Amyotrophic lateral sclerosis type 16
Amyotrophic lateral sclerosis type 16
Autosomal recessive distal spinal muscular atrophy 2

Criteria Provided
Multiple Submitters
No Conflicts

rs_757260058

2 SubmittersRCV001095534 RCV001856288

NM_007126.5(VCP):c.572G>C (p.Arg191Pro)

SNV
Germline

Chr9:35065255

Pathogenic/Likely pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6

Criteria Provided
Multiple Submitters
No Conflicts

rs_121909334

2 SubmittersRCV001095426 RCV003769035

NM_006459.4(ERLIN1):c.281T>C (p.Val94Ala)

SNV
Germline

Chr10:100178156

Pathogenic

Juvenile amyotrophic lateral sclerosis

Criteria Provided
Single Submitter

rs_1844420892

1 SubmittersRCV001095431

NM_001917.5(DAO):c.46G>A (p.Ala16Thr)

SNV
Germline

Chr12:108885052

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis
DAO-related disorder

Criteria Provided
Conflicting Classifications

rs_778735604

2 SubmittersRCV001095492 RCV003396745

NM_004984.4(KIF5A):c.3005A>G (p.Asp1002Gly)

SNV
Germline

Chr12:57582614

Conflicting classifications of pathogenicity

Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_1882640177

2 SubmittersRCV001095391 RCV002555972

NM_013254.4(TBK1):c.922C>T (p.Arg308Ter)

SNV
Germline

Chr12:64481951

Pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 4

Criteria Provided
Multiple Submitters
No Conflicts

rs_1284582102

2 SubmittersRCV001095423

NM_025137.4(SPG11):c.1432C>T (p.Gln478Ter)

SNV
Germline

Chr15:44651515

Pathogenic

Amyotrophic lateral sclerosis type 5

Criteria Provided
Single Submitter

rs_1226110412

1 SubmittersRCV001095432

NM_000743.5(CHRNA3):c.1A>G (p.Met1Val)

SNV
Germline

Chr15:78620794

Likely pathogenic

Amyotrophic lateral sclerosis

Criteria Provided
Single Submitter

rs_2053539304

1 SubmittersRCV001095529

NM_004960.4(FUS):c.1555C>T (p.Gln519Ter)

SNV
Germline

Chr16:31191412

Pathogenic

Amyotrophic lateral sclerosis type 6

Criteria Provided
Single Submitter

rs_1567479067

1 SubmittersRCV001095436

NM_004960.4(FUS):c.1562G>T (p.Arg521Leu)

SNV
Germline

Chr16:31191419

Pathogenic/Likely pathogenic

Amyotrophic lateral sclerosis type 6
Amyotrophic lateral sclerosis type 6
Tremor, hereditary essential, 4

Criteria Provided
Multiple Submitters
No Conflicts

rs_121909671

3 SubmittersRCV001095437 RCV001386162

NM_004960.4(FUS):c.1571G>T (p.Arg524Met)

SNV
Germline

Chr16:31191428

Likely pathogenic

Amyotrophic lateral sclerosis type 6

Criteria Provided
Single Submitter

rs_544088874

1 SubmittersRCV001095438

NM_004960.4(FUS):c.1577A>G (p.Tyr526Cys)

SNV
Germline

Chr16:31191434

Pathogenic

Juvenile amyotrophic lateral sclerosis

Criteria Provided
Single Submitter

rs_1228194239

1 SubmittersRCV001095440

NM_000454.5(SOD1):c.13G>T (p.Ala5Ser)

SNV
Germline

Chr21:31659782

Pathogenic

Amyotrophic lateral sclerosis type 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_121912444

2 SubmittersRCV001095541

NM_000454.5(SOD1):c.43G>A (p.Val15Met)

SNV
Germline

Chr21:31659812

Pathogenic/Likely pathogenic

Amyotrophic lateral sclerosis type 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1568807400

3 SubmittersRCV001095542

NM_000454.5(SOD1):c.68A>T (p.Gln23Leu)

SNV
Germline

Chr21:31659837

Pathogenic/Likely pathogenic

Amyotrophic lateral sclerosis type 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1169198442

2 SubmittersRCV001095543

NM_000454.5(SOD1):c.95T>C (p.Val32Ala)

SNV
Germline

Chr21:31663812

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 1
Spastic tetraplegia and axial hypotonia, progressive
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1428716759

3 SubmittersRCV001095392 RCV001196130 RCV002291718

NM_000454.5(SOD1):c.205T>C (p.Ser69Pro)

SNV
Germline

Chr21:31666484

Likely pathogenic

Amyotrophic lateral sclerosis type 1

Criteria Provided
Single Submitter

rs_2049594204

1 SubmittersRCV001095393

NM_000454.5(SOD1):c.214C>T (p.His72Tyr)

SNV
Germline

Chr21:31666493

Likely pathogenic

Amyotrophic lateral sclerosis type 1

Criteria Provided
Single Submitter

rs_2049594311

1 SubmittersRCV001095394

NM_000454.5(SOD1):c.262G>A (p.Val88Met)

SNV
Germline

Chr21:31667280

Likely pathogenic

Amyotrophic lateral sclerosis type 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1568810641

2 SubmittersRCV001095395

NM_000454.5(SOD1):c.376G>A (p.Asp126Asn)

SNV
Germline

Chr21:31668489

Likely pathogenic

Amyotrophic lateral sclerosis type 1

Criteria Provided
Single Submitter

rs_1568811372

1 SubmittersRCV001095397

NM_000454.5(SOD1):c.400G>A (p.Glu134Lys)

SNV
Germline

Chr21:31668513

Likely pathogenic

Amyotrophic lateral sclerosis type 1

Criteria Provided
Single Submitter

rs_2049618449

1 SubmittersRCV001095398

NM_000454.5(SOD1):c.412A>G (p.Thr138Ala)

SNV
Germline

Chr21:31668525

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1568811445

3 SubmittersRCV001095399 RCV001289238

NM_000454.5(SOD1):c.435G>T (p.Leu145Phe)

SNV
Germline

Chr21:31668548

Pathogenic

Amyotrophic lateral sclerosis type 1

Criteria Provided
Single Submitter

rs_1482760341

1 SubmittersRCV001095400

NM_000454.5(SOD1):c.446T>G (p.Val149Gly)

SNV
Germline

Chr21:31668559

Pathogenic/Likely pathogenic

Amyotrophic lateral sclerosis type 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1476760624

2 SubmittersRCV001095401

NM_004960.4(FUS):c.1394-1G>T

SNV
Germline

Chr16:31190962

Pathogenic

Amyotrophic lateral sclerosis type 6

Criteria Provided
Single Submitter

rs_2079347087

1 SubmittersRCV001095435

NM_007375.4(TARDBP):c.36C>T (p.Asn12=)

SNV
Germline

Chr1:11013763

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 10
Amyotrophic lateral sclerosis type 10
TARDBP-related frontotemporal dementia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_565091566

3 SubmittersRCV001099682 RCV002067757 RCV002348556

NM_007375.4(TARDBP):c.57A>G (p.Pro19=)

SNV
Germline

Chr1:11013784

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 10
Amyotrophic lateral sclerosis type 10
TARDBP-related frontotemporal dementia

Criteria Provided
Conflicting Classifications

rs_532319219

2 SubmittersRCV001099683 RCV002554944

NM_007375.4(TARDBP):c.963C>T (p.Ala321=)

SNV
Germline

Chr1:11022372

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 10
Amyotrophic lateral sclerosis type 10
TARDBP-related frontotemporal dementia

Criteria Provided
Conflicting Classifications

rs_547979470

2 SubmittersRCV001096236 RCV002557978

NM_007375.4(TARDBP):c.*73G>C

SNV
Germline

Chr1:11022727

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 10
TARDBP-related disorder

Criteria Provided
Conflicting Classifications

rs_185638796

2 SubmittersRCV001096239 RCV003405301

NM_001008212.2(OPTN):c.812G>A (p.Arg271His)

SNV
Germline

Chr10:13122417

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 12
Condition: not provided
Primary open angle glaucoma
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_201896586

3 SubmittersRCV001103688 RCV001759871 RCV001103687 RCV002418581

NM_001008212.2(OPTN):c.867G>C (p.Glu289Asp)

SNV
Germline

Chr10:13122472

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 12
Primary open angle glaucoma
Inborn genetic diseases
Amyotrophic lateral sclerosis type 12
Glaucoma 1, open angle, E
Primary open angle glaucoma

Criteria Provided
Conflicting Classifications

rs_143727251

3 SubmittersRCV001103689 RCV001103690 RCV004032097 RCV003769082

NM_001008212.2(OPTN):c.1633C>T (p.Arg545Trp)

SNV
Germline

Chr10:13136765

Conflicting classifications of pathogenicity

Primary open angle glaucoma
Amyotrophic lateral sclerosis type 12
Primary open angle glaucoma
Glaucoma 1, open angle, E
Amyotrophic lateral sclerosis type 12

Criteria Provided
Conflicting Classifications

rs_774245711

2 SubmittersRCV001107407 RCV001107408 RCV002555048

NM_025137.4(SPG11):c.7258T>A (p.Phe2420Ile)

SNV
Germline

Chr15:44563195

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Amyotrophic lateral sclerosis type 5
Charcot-Marie-Tooth disease axonal type 2X

Criteria Provided
Conflicting Classifications

rs_779900397

3 SubmittersRCV001117108 RCV002468153 RCV002468154

NM_025137.4(SPG11):c.6726A>G (p.Gln2242=)

SNV
Germline

Chr15:44567452

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Amyotrophic lateral sclerosis type 5
Charcot-Marie-Tooth disease axonal type 2X

Criteria Provided
Conflicting Classifications

rs_376245210

3 SubmittersRCV001120687 RCV002468175 RCV002468176

NM_025137.4(SPG11):c.5598C>T (p.Cys1866=)

SNV
Germline

Chr15:44584082

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Charcot-Marie-Tooth disease axonal type 2X
Amyotrophic lateral sclerosis type 5

Criteria Provided
Conflicting Classifications

rs_570599267

3 SubmittersRCV001118824 RCV002468164 RCV002468163

NM_004960.4(FUS):c.222A>G (p.Gly74=)

SNV
Germline

Chr16:31183889

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 6
Amyotrophic lateral sclerosis type 6
Tremor, hereditary essential, 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_757454595

3 SubmittersRCV001120536 RCV001248672 RCV002429767

NM_004960.4(FUS):c.443G>C (p.Ser148Thr)

SNV
Germline

Chr16:31184316

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 6
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_773655049

2 SubmittersRCV001115626 RCV002327398

NM_004960.4(FUS):c.452C>T (p.Pro151Leu)

SNV
Germline

Chr16:31184325

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 6
Inborn genetic diseases
Amyotrophic lateral sclerosis type 6
Tremor, hereditary essential, 4

Criteria Provided
Conflicting Classifications

rs_144342946

3 SubmittersRCV001115627 RCV002339405 RCV002556271

NM_004960.4(FUS):c.1348C>T (p.Pro450Ser)

SNV
Germline

Chr16:31190797

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 6
Amyotrophic lateral sclerosis type 6
Tremor, hereditary essential, 4
FUS-related disorder
not specified

Criteria Provided
Conflicting Classifications

rs_201533156

4 SubmittersRCV001118681 RCV001325702 RCV003413923 RCV004526082

NM_020919.4(ALS2):c.4566T>C (p.Phe1522=)

SNV
Germline

Chr2:201706860

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 2, juvenile
ALS2-related disorder
Infantile-onset ascending hereditary spastic paralysis

Criteria Provided
Conflicting Classifications

rs_1214757167

2 SubmittersRCV001143427 RCV001143426 RCV002070726

NM_020919.4(ALS2):c.3983G>A (p.Ser1328Asn)

SNV
Germline

Chr2:201715693

Conflicting classifications of pathogenicity

ALS2-related disorder
Amyotrophic lateral sclerosis type 2, juvenile
Infantile-onset ascending hereditary spastic paralysis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_1242751535

3 SubmittersRCV001139099 RCV001139098 RCV001856786 RCV003363119

NM_020919.4(ALS2):c.3345C>T (p.Tyr1115=)

SNV
Germline

Chr2:201725358

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 2, juvenile
ALS2-related disorder
Condition: not provided
Infantile-onset ascending hereditary spastic paralysis

Criteria Provided
Conflicting Classifications

rs_557709223

3 SubmittersRCV001136964 RCV001136965 RCV001760096 RCV002070598

NM_020919.4(ALS2):c.2802T>C (p.Asn934=)

SNV
Germline

Chr2:201728551

Conflicting classifications of pathogenicity

ALS2-related disorder
Amyotrophic lateral sclerosis type 2, juvenile
Infantile-onset ascending hereditary spastic paralysis

Criteria Provided
Conflicting Classifications

rs_1265678329

2 SubmittersRCV001141834 RCV001141835 RCV003502590

NM_020919.4(ALS2):c.1044C>T (p.Tyr348=)

SNV
Germline

Chr2:201760950

Conflicting classifications of pathogenicity

ALS2-related disorder
Amyotrophic lateral sclerosis type 2, juvenile
Infantile-onset ascending hereditary spastic paralysis

Criteria Provided
Conflicting Classifications

rs_1693726956

2 SubmittersRCV001139426 RCV001139425 RCV002556972

NM_020919.4(ALS2):c.339C>T (p.Tyr113=)

SNV
Germline

Chr2:201761655

Conflicting classifications of pathogenicity

ALS2-related disorder
Amyotrophic lateral sclerosis type 2, juvenile
Infantile-onset ascending hereditary spastic paralysis

Criteria Provided
Conflicting Classifications

rs_370824570

2 SubmittersRCV001137293 RCV001142057 RCV001444397

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
Perry syndrome
Neuronopathy, distal hereditary motor, type 7B

Criteria Provided
Conflicting Classifications

rs_146083590

4 SubmittersRCV001140456 RCV001140457 RCV002365810 RCV001858917

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

Criteria Provided
Conflicting Classifications

rs_1032786897

3 SubmittersRCV001137570 RCV001137569 RCV002070612 RCV003456474

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

SNV
Germline

Chr2:74363348

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

Criteria Provided
Conflicting Classifications

rs_769145486

2 SubmittersRCV001140572 RCV001140573 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

Criteria Provided
Conflicting Classifications

rs_771325809

3 SubmittersRCV001142643 RCV001142642 RCV001448727 RCV003898138

NM_000454.5(SOD1):c.420C>T (p.Asn140=)

SNV
Germline

Chr21:31668533

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_1804449

3 SubmittersRCV001143515 RCV003346335

NM_020919.4(ALS2):c.4627-4G>A

SNV
Germline

Chr2:201705204

Conflicting classifications of pathogenicity

ALS2-related disorder
Amyotrophic lateral sclerosis type 2, juvenile
Infantile-onset ascending hereditary spastic paralysis

Criteria Provided
Conflicting Classifications

rs_765859367

2 SubmittersRCV001143424 RCV001143425 RCV002557055

NM_020919.4(ALS2):c.1816-7G>A

SNV
Germline

Chr2:201746755

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 2, juvenile
ALS2-related disorder
Infantile-onset ascending hereditary spastic paralysis

Criteria Provided
Conflicting Classifications

rs_763440221

2 SubmittersRCV001139313 RCV001139314 RCV002559343

NM_014043.4(CHMP2B):c.56G>A (p.Arg19Gln)

SNV
Germline

Chr3:87240720

Conflicting classifications of pathogenicity

Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
CHMP2B-related disorder

Criteria Provided
Conflicting Classifications

rs_200322526

4 SubmittersRCV001148367 RCV003953530

NM_014043.4(CHMP2B):c.531+8C>T

SNV
Germline

Chr3:87253518

Conflicting classifications of pathogenicity

Frontotemporal dementia and/or amyotrophic lateral sclerosis 7

Criteria Provided
Conflicting Classifications

rs_374796686

2 SubmittersRCV001149929

NM_018834.6(MATR3):c.675A>G (p.Arg225=)

SNV
Germline

Chr5:139308090

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 21

Criteria Provided
Conflicting Classifications

rs_199711502

2 SubmittersRCV001156309

NM_018834.6(MATR3):c.2318A>G (p.Tyr773Cys)

SNV
Germline

Chr5:139325609

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 21
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_368217486

3 SubmittersRCV001156426 RCV002557335

NM_003900.5(SQSTM1):c.462C>T (p.Cys154=)

SNV
Germline

Chr5:179824018

Conflicting classifications of pathogenicity

Paget disease of bone 3
Paget disease of bone 2, early-onset
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1

Criteria Provided
Conflicting Classifications

rs_775988188

2 SubmittersRCV001151636 RCV001343979

NM_003900.5(SQSTM1):c.615C>T (p.Asn205=)

SNV
Germline

Chr5:179824265

Conflicting classifications of pathogenicity

Paget disease of bone 3
Paget disease of bone 2, early-onset
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1

Criteria Provided
Conflicting Classifications

rs_771036207

2 SubmittersRCV001151638 RCV002070838

NM_014845.6(FIG4):c.1482C>T (p.Asn494=)

SNV
Germline

Chr6:109765060

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 11
Charcot-Marie-Tooth disease type 4J
Charcot-Marie-Tooth disease type 4

Criteria Provided
Conflicting Classifications

rs_776928002

2 SubmittersRCV001152790 RCV001152791 RCV001465252

NM_015046.7(SETX):c.*2190A>G

SNV
Germline

Chr9:132262049

Conflicting classifications of pathogenicity

Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4

Criteria Provided
Conflicting Classifications

rs_531640605

1 SubmittersRCV001168578 RCV001168579

NM_015046.7(SETX):c.*1803G>A

SNV
Germline

Chr9:132262436

Conflicting classifications of pathogenicity

Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4

Criteria Provided
Conflicting Classifications

rs_556145432

1 SubmittersRCV001169349 RCV001169350

NM_015046.7(SETX):c.*254C>T

SNV
Germline

Chr9:132263985

Conflicting classifications of pathogenicity

Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_11545230

3 SubmittersRCV001167068 RCV001167067 RCV001847182

NM_015046.7(SETX):c.7851G>A (p.Thr2617=)

SNV
Germline

Chr9:132264422

Conflicting classifications of pathogenicity

Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2

Criteria Provided
Conflicting Classifications

rs_747616517

2 SubmittersRCV001169540 RCV001169541 RCV001428326

NM_015046.7(SETX):c.7775C>T (p.Ala2592Val)

SNV
Germline

Chr9:132264498

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1842534708

3 SubmittersRCV001165532 RCV001165533 RCV002264210

NM_015046.7(SETX):c.6435C>T (p.Ile2145=)

SNV
Germline

Chr9:132283375

Conflicting classifications of pathogenicity

Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Condition: not provided
Hereditary spastic paraplegia
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
SETX-related disorder

Criteria Provided
Conflicting Classifications

rs_374110190

5 SubmittersRCV001167195 RCV001167770 RCV001760116 RCV001847183 RCV002068024 RCV004538386

NM_015046.7(SETX):c.6356T>C (p.Val2119Ala)

SNV
Germline

Chr9:132286463

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Inborn genetic diseases
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_781741533

5 SubmittersRCV001167773 RCV001167774 RCV002558656 RCV003769817 RCV003482333

NM_015046.7(SETX):c.5786C>T (p.Ala1929Val)

SNV
Germline

Chr9:132297050

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 4
Inborn genetic diseases
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2

Criteria Provided
Conflicting Classifications

rs_200571606

2 SubmittersRCV001165671 RCV002355130 RCV001165670

NM_015046.7(SETX):c.5271A>G (p.Glu1757=)

SNV
Germline

Chr9:132326327

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Condition: not provided
not specified
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Hereditary spastic paraplegia
SETX-related disorder

Criteria Provided
Conflicting Classifications

rs_200499115

7 SubmittersRCV001167852 RCV001167851 RCV001700982 RCV001664719 RCV001486121 RCV001847184 RCV004545094

NM_015046.7(SETX):c.4989T>A (p.Ser1663=)

SNV
Germline

Chr9:132326609

Conflicting classifications of pathogenicity

Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4

Criteria Provided
Conflicting Classifications

rs_185338915

1 SubmittersRCV001169726 RCV001169727

NM_015046.7(SETX):c.4511A>G (p.Glu1504Gly)

SNV
Germline

Chr9:132327087

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2

Criteria Provided
Conflicting Classifications

rs_781275166

2 SubmittersRCV001165735 RCV001165736 RCV003769803

NM_015046.7(SETX):c.2934C>T (p.Ser978=)

SNV
Germline

Chr9:132328664

Conflicting classifications of pathogenicity

Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2

Criteria Provided
Conflicting Classifications

rs_144154512

2 SubmittersRCV001165885 RCV001168779 RCV001458668

NM_015046.7(SETX):c.2278A>G (p.Thr760Ala)

SNV
Germline

Chr9:132329320

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_373647065

4 SubmittersRCV001168074 RCV001168073 RCV001859091 RCV001531746 RCV002445405

NM_015046.7(SETX):c.1492A>G (p.Thr498Ala)

SNV
Germline

Chr9:132330106

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2

Criteria Provided
Conflicting Classifications

rs_779544809

2 SubmittersRCV001165959 RCV001165960 RCV002558616

NM_015046.7(SETX):c.1015A>C (p.Lys339Gln)

SNV
Germline

Chr9:132331135

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_768437607

5 SubmittersRCV001168149 RCV001168150 RCV001238833 RCV001664720 RCV002339420

NM_015046.7(SETX):c.540A>G (p.Lys180=)

SNV
Germline

Chr9:132336474

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 4
Condition: not provided
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
SETX-related disorder

Criteria Provided
Conflicting Classifications

rs_757470639

4 SubmittersRCV001166020 RCV001200194 RCV001253917 RCV002558618 RCV004538384

NM_015046.7(SETX):c.36T>C (p.Ala12=)

SNV
Germline

Chr9:132349393

Conflicting classifications of pathogenicity

Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2

Criteria Provided
Conflicting Classifications

rs_1198947358

2 SubmittersRCV001168220 RCV001168967 RCV002559610

NM_015046.7(SETX):c.-70T>C

SNV
Germline

Chr9:132353711

Conflicting classifications of pathogenicity

Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4

Criteria Provided
Conflicting Classifications

rs_72765839

1 SubmittersRCV001168968 RCV001168969

NM_015046.7(SETX):c.-123C>A

SNV
Germline

Chr9:132354925

Conflicting classifications of pathogenicity

Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4

Criteria Provided
Conflicting Classifications

rs_184570956

1 SubmittersRCV001166068 RCV001254001

NM_007126.5(VCP):c.384T>C (p.Gly128=)

SNV
Germline

Chr9:35066736

Conflicting classifications of pathogenicity

Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
VCP-related disorder

Criteria Provided
Conflicting Classifications

rs_367703031

3 SubmittersRCV001168238 RCV001168239 RCV002067829 RCV004545096

NM_015046.7(SETX):c.6396+8G>C

SNV
Germline

Chr9:132286415

Conflicting classifications of pathogenicity

Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2

Criteria Provided
Conflicting Classifications

rs_752365500

2 SubmittersRCV001167772 RCV001167771 RCV002068029

NM_007126.5(VCP):c.*1040T>C

SNV
Germline

Chr9:35056077

Conflicting classifications of pathogenicity

Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_188935092

2 SubmittersRCV001165910 RCV001165911 RCV002264211

NM_007126.5(VCP):c.446-4G>A

SNV
Germline

Chr9:35065385

Conflicting classifications of pathogenicity

Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia

Criteria Provided
Conflicting Classifications

rs_370700002

2 SubmittersRCV001168237 RCV001168236 RCV001873558

NM_015046.7(SETX):c.5842A>G (p.Met1948Val)

SNV
Germline

Chr9:132296994

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2

Criteria Provided
Conflicting Classifications

rs_762267386

3 SubmittersRCV001171884 RCV002355133 RCV002559645

NM_000454.5(SOD1):c.256G>A (p.Gly86Ser)

SNV
Germline

Chr21:31667274

Pathogenic/Likely pathogenic

Spastic tetraplegia and axial hypotonia, progressive
Amyotrophic lateral sclerosis type 1
SOD1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_121912436

3 SubmittersRCV001199223 RCV002560266 RCV003413982

NM_015046.7(SETX):c.6668A>G (p.Tyr2223Cys)

SNV
Germline

Chr9:132278244

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_747913385

2 SubmittersRCV001214631 RCV003313191

NM_015046.7(SETX):c.866C>T (p.Ala289Val)

SNV
Germline

Chr9:132331421

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Inborn genetic diseases
Condition: not provided
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4

Criteria Provided
Conflicting Classifications

rs_1237541645

4 SubmittersRCV001224042 RCV002447126 RCV002473228 RCV003234001 RCV003234002

NM_015046.7(SETX):c.267A>G (p.Ile89Met)

SNV
Germline

Chr9:132346382

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Inborn genetic diseases
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4

Criteria Provided
Conflicting Classifications

rs_767232097

3 SubmittersRCV001219943 RCV002562491 RCV003233997 RCV003233998

NM_025137.4(SPG11):c.31G>C (p.Ala11Pro)

SNV
Germline

Chr15:44663617

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
not specified
Amyotrophic lateral sclerosis type 5
Charcot-Marie-Tooth disease axonal type 2X

Criteria Provided
Conflicting Classifications

rs_529316227

3 SubmittersRCV001218744 RCV002298906 RCV002468190 RCV002468191

NM_004738.5(VAPB):c.315A>G (p.Val105=)

SNV
Germline

Chr20:58434705

Conflicting classifications of pathogenicity

Inborn genetic diseases
Adult-onset proximal spinal muscular atrophy, autosomal dominant
Amyotrophic lateral sclerosis type 8

Criteria Provided
Conflicting Classifications

rs_757744162

2 SubmittersRCV002322080 RCV002254603

NM_007375.4(TARDBP):c.962C>A (p.Ala321Asp)

SNV
Germline

Chr1:11022371

Likely pathogenic

Amyotrophic lateral sclerosis type 10
TARDBP-related frontotemporal dementia

Criteria Provided
Single Submitter

rs_1304706298

1 SubmittersRCV001207766

NM_007375.4(TARDBP):c.1132A>G (p.Asn378Asp)

SNV
Germline

Chr1:11022541

Likely pathogenic

TARDBP-related frontotemporal dementia
Amyotrophic lateral sclerosis type 10

Criteria Provided
Single Submitter

rs_1557660662

1 SubmittersRCV001208497

NM_015046.7(SETX):c.2261C>G (p.Ala754Gly)

SNV
Germline

Chr9:132329337

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
SETX-related disorder

Criteria Provided
Conflicting Classifications

rs_764538703

2 SubmittersRCV001211390 RCV004538454

NM_025137.4(SPG11):c.6458G>T (p.Ser2153Ile)

SNV
Germline

Chr15:44570544

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Amyotrophic lateral sclerosis type 5
Hereditary spastic paraplegia 11
Charcot-Marie-Tooth disease axonal type 2X

Criteria Provided
Conflicting Classifications

rs_543344637

2 SubmittersRCV001204169 RCV002491612

NM_000454.5(SOD1):c.319C>T (p.Leu107Phe)

SNV
Germline

Chr21:31667337

Pathogenic

Amyotrophic lateral sclerosis type 1

Criteria Provided
Single Submitter

rs_121912440

1 SubmittersRCV001203287

NM_020919.4(ALS2):c.2221C>T (p.Arg741Ter)

SNV
Germline

Chr2:201741804

Pathogenic

Infantile-onset ascending hereditary spastic paralysis
Amyotrophic lateral sclerosis

Criteria Provided
Single Submitter

rs_759408917

2 SubmittersRCV001234628 RCV003106160

NM_015046.7(SETX):c.6268C>T (p.Gln2090Ter)

SNV
Germline

Chr9:132288292

Pathogenic

Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2

Criteria Provided
Single Submitter

rs_1844047388

1 SubmittersRCV001226904

NM_015046.7(SETX):c.5552G>A (p.Arg1851His)

SNV
Germline

Chr9:132298309

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Condition: not provided
not specified
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4

Criteria Provided
Conflicting Classifications

rs_137978070

5 SubmittersRCV001228638 RCV001509373 RCV003479299 RCV003234005 RCV003234006

NM_015046.7(SETX):c.1889C>T (p.Thr630Met)

SNV
Germline

Chr9:132329709

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_749132753

2 SubmittersRCV001232366 RCV002411856

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

SNV
Germline

Chr2:74361603

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_969899022

2 SubmittersRCV001239607 RCV002348816

NM_015046.7(SETX):c.7972A>G (p.Arg2658Gly)

SNV
Germline

Chr9:132264301

Conflicting classifications of pathogenicity

Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_779793402

2 SubmittersRCV001243506 RCV001509369

NM_015046.7(SETX):c.7715C>T (p.Thr2572Met)

SNV
Germline

Chr9:132264558

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_773364996

3 SubmittersRCV001243333 RCV003482355

NM_025137.4(SPG11):c.789A>G (p.Lys263=)

SNV
Germline

Chr15:44657175

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Amyotrophic lateral sclerosis
Charcot-Marie-Tooth disease axonal type 2X
Amyotrophic lateral sclerosis type 5

Criteria Provided
Conflicting Classifications

rs_764439012

3 SubmittersRCV001244779 RCV002221269 RCV002468205 RCV002468204

NM_000454.5(SOD1):c.377A>C (p.Asp126Ala)

SNV
Germline

Chr21:31668490

Likely pathogenic

Amyotrophic lateral sclerosis type 1

Criteria Provided
Single Submitter

rs_1164911383

1 SubmittersRCV001250175

NM_005235.3(ERBB4):c.3814G>A (p.Gly1272Arg)

SNV
Unknown

Chr2:211383728

Likely pathogenic

Amyotrophic lateral sclerosis

Criteria Provided
Single Submitter

rs_371332509

1 SubmittersRCV001260557

NM_004082.5(DCTN1):c.1864A>T (p.Ile622Phe)

SNV
Unknown

Chr2:74368122

Likely pathogenic

Amyotrophic lateral sclerosis

Criteria Provided
Single Submitter

rs_1328116832

1 SubmittersRCV001260558

NM_001917.5(DAO):c.250G>A (p.Ala84Thr)

SNV
Germline

Chr12:108887505

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis
DAO-related disorder

Criteria Provided
Conflicting Classifications

rs_781658657

2 SubmittersRCV001260559 RCV003399030

NM_015046.7(SETX):c.2425A>G (p.Ile809Val)

SNV
Germline

Chr9:132329173

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2

Criteria Provided
Conflicting Classifications

rs_906452681

2 SubmittersRCV001260211 RCV003770349

NM_001080421.3(UNC13A):c.4197+7C>T

SNV
Germline

Chr19:17624822

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis
UNC13A-related disorder

Criteria Provided
Conflicting Classifications

rs_148883310

2 SubmittersRCV001260223 RCV003963162

NM_198935.3(SS18L1):c.961G>A (p.Ala321Thr)

SNV
Germline

Chr20:62172726

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis
Condition: not provided
SS18L1-related disorder

Criteria Provided
Conflicting Classifications

rs_36106901

3 SubmittersRCV001260222 RCV001673040 RCV003963161

NM_005243.4(EWSR1):c.1393G>A (p.Gly465Ser)

SNV
Germline

Chr22:29297925

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_41311143

2 SubmittersRCV001260202 RCV003311973

NM_021076.4(NEFH):c.2009T>A (p.Val670Glu)

SNV
Germline

Chr22:29489649

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_190692435

4 SubmittersRCV001260206 RCV001553235 RCV002418864

NM_015046.7(SETX):c.343C>G (p.Leu115Val)

SNV
Germline

Chr9:132346306

Conflicting classifications of pathogenicity

Inborn genetic diseases
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4

Criteria Provided
Conflicting Classifications

rs_538372427

3 SubmittersRCV001267159 RCV001880135 RCV003234018 RCV003234019

NM_007126.5(VCP):c.475C>A (p.Arg159Ser)

SNV
Germline

Chr9:35065352

Pathogenic

Amyotrophic lateral sclerosis type 6

No Assertion Criteria Provided

rs_387906789

1 SubmittersRCV001271083

NM_007126.5(VCP):c.1184A>G (p.Asp395Gly)

SNV
Germline

Chr9:35061587

Pathogenic

FRONTOTEMPORAL DEMENTIA WITHOUT AMYOTROPHIC LATERAL SCLEROSIS 6, WITH NEUROFIBRILLARY TANGLES

No Assertion Criteria Provided

rs_1828721782

1 SubmittersRCV001271084

NM_001761.3(CCNF):c.1861A>G (p.Ser621Gly)

SNV
Germline

Chr16:2455540

Likely pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 5
Condition: not provided

Criteria Provided
Single Submitter

rs_778264897

2 SubmittersRCV001281085 RCV003426024

NM_001761.3(CCNF):c.585T>G (p.Ser195Arg)

SNV
Germline

Chr16:2438114

Pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 5

No Assertion Criteria Provided

rs_1371569927

1 SubmittersRCV001281086

NM_001761.3(CCNF):c.1175G>C (p.Arg392Thr)

SNV
Germline

Chr16:2448935

Pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 5

No Assertion Criteria Provided

rs_954539468

1 SubmittersRCV001281087

NM_001761.3(CCNF):c.1870G>A (p.Glu624Lys)

SNV
Germline

Chr16:2455549

Pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 5

No Assertion Criteria Provided

rs_771621178

1 SubmittersRCV001281088

NM_022173.4(TIA1):c.1085C>T (p.Pro362Leu)

SNV
Germline

Chr2:70212795

Conflicting classifications of pathogenicity

AMYOTROPHIC LATERAL SCLEROSIS 26 WITH FRONTOTEMPORAL DEMENTIA
Welander distal myopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_757332023

3 SubmittersRCV001281089 RCV001365839 RCV003132375

NM_001378743.1(CYLD):c.2155A>G (p.Met719Val)

SNV
Germline

Chr16:50791604

Pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 8

Criteria Provided
Single Submitter

rs_1971438573

2 SubmittersRCV001281091

NM_001199397.3(NEK1):c.2539G>T (p.Glu847Ter)

SNV
Germline

Chr4:169463291

Likely pathogenic

Amyotrophic lateral sclerosis, susceptibility to, 24

No Assertion Criteria Provided

rs_1744312712

1 SubmittersRCV001283787

NM_015046.7(SETX):c.7967A>G (p.Asn2656Ser)

SNV
Germline

Chr9:132264306

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4

Criteria Provided
Conflicting Classifications

rs_745394467

4 SubmittersRCV001812480 RCV002418877 RCV003234022 RCV003234023 RCV003770443

NM_015046.7(SETX):c.1140T>G (p.Pro380=)

SNV
Germline

Chr9:132330458

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
SETX-related disorder

Criteria Provided
Conflicting Classifications

rs_140553290

5 SubmittersRCV001813050 RCV001847229 RCV002542980 RCV004545176

NM_003900.5(SQSTM1):c.302-4G>A

SNV
Germline

Chr5:179823854

Conflicting classifications of pathogenicity

Condition: not provided
Paget disease of bone 2, early-onset
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1

Criteria Provided
Conflicting Classifications

rs_1757883398

2 SubmittersRCV001288015 RCV002069539

NM_015046.7(SETX):c.5852A>G (p.His1951Arg)

SNV
Germline

Chr9:132296984

Conflicting classifications of pathogenicity

Condition: not provided
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2

Criteria Provided
Conflicting Classifications

rs_146593865

2 SubmittersRCV001288412 RCV002542992

NM_015046.7(SETX):c.4432G>A (p.Ala1478Thr)

SNV
Germline

Chr9:132327166

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2

Criteria Provided
Conflicting Classifications

rs_759545112

3 SubmittersRCV001288405 RCV002327624 RCV002537972

NM_015046.7(SETX):c.2101G>A (p.Ala701Thr)

SNV
Germline

Chr9:132329497

Conflicting classifications of pathogenicity

Condition: not provided
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2

Criteria Provided
Conflicting Classifications

rs_769620847

2 SubmittersRCV001287951 RCV001871701

NM_015046.7(SETX):c.785A>G (p.Lys262Arg)

SNV
Germline

Chr9:132334661

Conflicting classifications of pathogenicity

Condition: not provided
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2

Criteria Provided
Conflicting Classifications

rs_770255148

2 SubmittersRCV001288750 RCV003770460

NM_000454.5(SOD1):c.239+6A>C

SNV
Germline

Chr21:31666524

Conflicting classifications of pathogenicity

not specified
Amyotrophic lateral sclerosis type 1

Criteria Provided
Conflicting Classifications

rs_374610141

2 SubmittersRCV001289237 RCV002537988

NM_013254.4(TBK1):c.1318C>T (p.Arg440Ter)

SNV
Germline

Chr12:64485995

Pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 4

No Assertion Criteria Provided

rs_769588220

1 SubmittersRCV001291944

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

SNV
Germline

Chr2:74367968

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_200057343

3 SubmittersRCV001301332 RCV002418908 RCV001336113

NM_015046.7(SETX):c.7005G>C (p.Lys2335Asn)

SNV
Germline

Chr9:132275351

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_141657462

2 SubmittersRCV001298228 RCV003482359

NM_015046.7(SETX):c.4520A>C (p.Asp1507Ala)

SNV
Germline

Chr9:132327078

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_138195434

2 SubmittersRCV001298212 RCV002341587

NM_025137.4(SPG11):c.6278G>A (p.Arg2093His)

SNV
Germline

Chr15:44572748

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 11
Condition: not provided
Inborn genetic diseases
Amyotrophic lateral sclerosis type 5
Charcot-Marie-Tooth disease axonal type 2X

Criteria Provided
Conflicting Classifications

rs_376817637

4 SubmittersRCV001302664 RCV002261332 RCV002357100 RCV002468217 RCV002468218

NM_015046.7(SETX):c.382C>T (p.Arg128Cys)

SNV
Germline

Chr9:132346267

Conflicting classifications of pathogenicity

Condition: not provided
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_552476047

4 SubmittersRCV001311800 RCV001871780 RCV003234039 RCV003234038 RCV003246866

NM_003900.5(SQSTM1):c.1A>G (p.Met1Val)

SNV
Germline

Chr5:179820937

Conflicting classifications of pathogenicity

Paget disease of bone 2, early-onset
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1302810798

3 SubmittersRCV001319264 RCV001563679 RCV002473267

NM_015046.7(SETX):c.7439C>T (p.Ala2480Val)

SNV
Germline

Chr9:132264834

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_376524608

2 SubmittersRCV001324450 RCV002546112

NM_000454.5(SOD1):c.143T>C (p.Val48Ala)

SNV
Germline

Chr21:31663860

Likely pathogenic

Amyotrophic lateral sclerosis type 1

Criteria Provided
Single Submitter

rs_1568809169

1 SubmittersRCV001318269

NM_013254.4(TBK1):c.1153G>T (p.Glu385Ter)

SNV
Germline

Chr12:64484463

Pathogenic/Likely pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 4

Criteria Provided
Multiple Submitters
No Conflicts

rs_765106259

2 SubmittersRCV001328679

NM_000454.5(SOD1):c.230A>T (p.Asp77Val)

SNV
Germline

Chr21:31666509

Pathogenic/Likely pathogenic

Amyotrophic lateral sclerosis type 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1568810316

2 SubmittersRCV001332469

NM_015046.7(SETX):c.658A>C (p.Lys220Gln)

SNV
Germline

Chr9:132336356

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 4
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_761180215

5 SubmittersRCV001333803 RCV001865790 RCV003234049 RCV003222308 RCV002377429

NM_001008212.2(OPTN):c.785C>A (p.Ser262Ter)

SNV
Germline

Chr10:13122390

Pathogenic

Primary open angle glaucoma
Amyotrophic lateral sclerosis type 12
Glaucoma 1, open angle, E
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

rs_750571210

2 SubmittersRCV001958587 RCV002407182

NM_025137.4(SPG11):c.6468T>C (p.Tyr2156=)

SNV
Germline

Chr15:44570534

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 5
Hereditary spastic paraplegia 11

Criteria Provided
Conflicting Classifications

rs_146240471

2 SubmittersRCV001336696 RCV003495243

NM_004082.5(DCTN1):c.1480G>A (p.Ala494Thr)

SNV
Germline

Chr2:74369404

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_113980038

2 SubmittersRCV001349255 RCV002395773

NM_014043.4(CHMP2B):c.88A>G (p.Arg30Gly)

SNV
Germline

Chr3:87240752

Conflicting classifications of pathogenicity

Condition: not provided
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
CHMP2B-related disorder

Criteria Provided
Conflicting Classifications

rs_139894940

3 SubmittersRCV001354452 RCV002070222 RCV003953681

NM_015046.7(SETX):c.7682C>T (p.Ser2561Leu)

SNV
Germline

Chr9:132264591

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_147705644

4 SubmittersRCV001365341 RCV003128783 RCV002404871

NM_015046.7(SETX):c.2921T>C (p.Ile974Thr)

SNV
Germline

Chr9:132328677

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

rs_765768857

3 SubmittersRCV001367523 RCV003246955 RCV003388005

NM_015046.7(SETX):c.245G>A (p.Gly82Glu)

SNV
Germline

Chr9:132346404

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Inborn genetic diseases
SETX-related disorder

Criteria Provided
Conflicting Classifications

rs_201864041

3 SubmittersRCV001367166 RCV002456568 RCV004528488

NM_004960.4(FUS):c.1317T>C (p.Ser439=)

SNV
Germline

Chr16:31190766

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 6
Tremor, hereditary essential, 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_377010944

2 SubmittersRCV001363382 RCV002384515

NM_000454.5(SOD1):c.396T>G (p.Asn132Lys)

SNV
Germline

Chr21:31668509

Likely pathogenic

Amyotrophic lateral sclerosis type 1

Criteria Provided
Single Submitter

rs_1027128618

1 SubmittersRCV001374388

NM_020919.4(ALS2):c.3624+1G>A

SNV
Germline

Chr2:201723329

Likely pathogenic

Infantile-onset ascending hereditary spastic paralysis
Amyotrophic lateral sclerosis

Criteria Provided
Single Submitter

rs_2105998730

2 SubmittersRCV001377565 RCV003106223

NM_005866.4(SIGMAR1):c.492G>A (p.Trp164Ter)

SNV
Germline

Chr9:34635812

Pathogenic

Autosomal recessive distal spinal muscular atrophy 2
Amyotrophic lateral sclerosis type 16

Criteria Provided
Single Submitter

rs_1242817438

1 SubmittersRCV001378556

NM_005866.4(SIGMAR1):c.152-2A>T

SNV
Germline

Chr9:34637422

Likely pathogenic

Amyotrophic lateral sclerosis type 16
Autosomal recessive distal spinal muscular atrophy 2

Criteria Provided
Single Submitter

rs_2132329744

1 SubmittersRCV001378960

NM_001008212.2(OPTN):c.1401+1G>A

SNV
Germline

Chr10:13127904

Likely pathogenic

Amyotrophic lateral sclerosis type 12
Primary open angle glaucoma
Glaucoma 1, open angle, E

Criteria Provided
Single Submitter

rs_1370982012

1 SubmittersRCV001377787

NM_000454.5(SOD1):c.304G>C (p.Asp102His)

SNV
Germline

Chr21:31667322

Pathogenic

Amyotrophic lateral sclerosis type 1

Criteria Provided
Single Submitter

rs_1568810715

1 SubmittersRCV001377993

NM_000454.5(SOD1):c.374A>T (p.Asp125Val)

SNV
Germline

Chr21:31668487

Pathogenic/Likely pathogenic

Amyotrophic lateral sclerosis type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1568811366

2 SubmittersRCV001378934 RCV002255185

NM_003900.5(SQSTM1):c.244G>T (p.Glu82Ter)

SNV
Germline

Chr5:179822996

Pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
Paget disease of bone 2, early-onset

Criteria Provided
Single Submitter

rs_1425863340

1 SubmittersRCV001390972

NM_003900.5(SQSTM1):c.1210A>G (p.Met404Val)

SNV
Germline

Chr5:179836480

Pathogenic

Paget disease of bone 2, early-onset
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
SQSTM1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_771966860

2 SubmittersRCV001383720 RCV004528496

NM_013254.4(TBK1):c.1934C>G (p.Ser645Ter)

SNV
Germline

Chr12:64497234

Pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 4

Criteria Provided
Single Submitter

rs_2136088420

1 SubmittersRCV001388492

NM_025137.4(SPG11):c.4432C>T (p.Gln1478Ter)

SNV
Germline

Chr15:44596085

Pathogenic

Hereditary spastic paraplegia 11
Hereditary spastic paraplegia 11
Charcot-Marie-Tooth disease axonal type 2X
Juvenile amyotrophic lateral sclerosis

Criteria Provided
Single Submitter

rs_2140971559

2 SubmittersRCV001384631 RCV003483829

NM_000454.5(SOD1):c.281G>A (p.Gly94Asp)

SNV
Germline

Chr21:31667299

Pathogenic

Amyotrophic lateral sclerosis type 1

Criteria Provided
Single Submitter

rs_121912438

1 SubmittersRCV001384618

NM_015046.7(SETX):c.6843-4A>T

SNV
Germline

Chr9:132277156

Conflicting classifications of pathogenicity

Inborn genetic diseases
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2

Criteria Provided
Conflicting Classifications

rs_1466427179

2 SubmittersRCV002368290 RCV001412584

NM_015046.7(SETX):c.719-4A>G

SNV
Germline

Chr9:132334731

Conflicting classifications of pathogenicity

Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Hereditary spastic paraplegia
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_775443601

4 SubmittersRCV001411304 RCV001847266 RCV002377642 RCV003883630

NM_007126.5(VCP):c.446-5C>T

SNV
Germline

Chr9:35065386

Conflicting classifications of pathogenicity

Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_541980846

2 SubmittersRCV001394423 RCV002329415

NM_213720.3(CHCHD10):c.42-5C>T

SNV
Germline

Chr22:23767598

Conflicting classifications of pathogenicity

Autosomal dominant mitochondrial myopathy with exercise intolerance
Lower motor neuron syndrome with late-adult onset
Frontotemporal dementia and/or amyotrophic lateral sclerosis 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_868345557

2 SubmittersRCV001395837 RCV002329417

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

SNV
Germline

Chr2:74366023

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_749706596

2 SubmittersRCV001440364 RCV003160771

NM_003900.5(SQSTM1):c.908C>T (p.Ala303Val)

SNV
Germline

Chr5:179833185

Conflicting classifications of pathogenicity

Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
Paget disease of bone 2, early-onset
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_143746604

2 SubmittersRCV001422431 RCV003317495

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

SNV
Germline

Chr2:74377731

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1675307447

2 SubmittersRCV003375315 RCV001477056

NM_015046.7(SETX):c.855T>C (p.Pro285=)

SNV
Germline

Chr9:132331432

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Condition: not provided
SETX-related disorder

Criteria Provided
Conflicting Classifications

rs_141736312

3 SubmittersRCV001450719 RCV003886511 RCV004533763

NM_003900.5(SQSTM1):c.1273G>A (p.Gly425Arg)

SNV
Germline

Chr5:179836543

Conflicting classifications of pathogenicity

Condition: not provided
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
Paget disease of bone 2, early-onset

Criteria Provided
Conflicting Classifications

rs_757212984

3 SubmittersRCV001508538 RCV001882557

NM_015046.7(SETX):c.7979A>G (p.Asp2660Gly)

SNV
Germline

Chr9:132264294

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
SETX-related disorder

Criteria Provided
Conflicting Classifications

rs_567672087

6 SubmittersRCV001509368 RCV002421162 RCV003234071 RCV003234072 RCV003771558 RCV004533917

NM_015046.7(SETX):c.7735G>T (p.Val2579Phe)

SNV
Germline

Chr9:132264538

Conflicting classifications of pathogenicity

Condition: not provided
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_144121978

4 SubmittersRCV001509371 RCV001865960 RCV002568009

NM_015046.7(SETX):c.4423A>G (p.Ile1475Val)

SNV
Germline

Chr9:132327175

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4

Criteria Provided
Conflicting Classifications

rs_376678876

3 SubmittersRCV001509375 RCV001847286 RCV002564285

NM_000454.5(SOD1):c.413C>T (p.Thr138Ile)

SNV
Germline

Chr21:31668526

Conflicting classifications of pathogenicity

Condition: not provided
Amyotrophic lateral sclerosis type 1

Criteria Provided
Conflicting Classifications

rs_1568811454

3 SubmittersRCV001509076 RCV001882562

NM_001008212.2(OPTN):c.1400A>C (p.Gln467Pro)

SNV
Germline

Chr10:13127902

Likely pathogenic

Amyotrophic lateral sclerosis type 12

Criteria Provided
Single Submitter

rs_2131520977

1 SubmittersRCV001530974

NM_015046.7(SETX):c.2233C>T (p.Arg745Cys)

SNV
Germline

Chr9:132329365

Conflicting classifications of pathogenicity

Condition: not provided
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2

Criteria Provided
Conflicting Classifications

rs_780121182

3 SubmittersRCV001531747 RCV002568198

NM_013444.4(UBQLN2):c.724G>A (p.Ala242Thr)

SNV
Germline

ChrX:56564597

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 15

Criteria Provided
Conflicting Classifications

rs_1360902821

2 SubmittersRCV001810079

NM_020919.4(ALS2):c.4626+1G>A

SNV
Germline

Chr2:201705415

Pathogenic/Likely pathogenic

Condition: not provided
Amyotrophic lateral sclerosis type 2, juvenile

Criteria Provided
Multiple Submitters
No Conflicts

rs_1234882220

2 SubmittersRCV001543521 RCV003128270

NM_000454.5(SOD1):c.269C>T (p.Ala90Val)

SNV
Germline

Chr21:31667287

Pathogenic/Likely pathogenic

Condition: not provided
Amyotrophic lateral sclerosis type 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1280042397

2 SubmittersRCV001552307 RCV002568339

NM_018834.6(MATR3):c.2251G>A (p.Ala751Thr)

SNV
Germline

Chr5:139325542

Conflicting classifications of pathogenicity

Condition: not provided
Amyotrophic lateral sclerosis type 21
MATR3-related disorder

Criteria Provided
Conflicting Classifications

rs_774158046

3 SubmittersRCV001560577 RCV001865974 RCV004536183

NM_000454.5(SOD1):c.193T>C (p.Phe65Leu)

SNV
Germline

Chr21:31666472

Conflicting classifications of pathogenicity

Condition: not provided
Amyotrophic lateral sclerosis type 1

Criteria Provided
Conflicting Classifications

rs_1030039318

3 SubmittersRCV001565742 RCV001882667

NM_015046.7(SETX):c.3410G>A (p.Gly1137Asp)

SNV
Germline

Chr9:132328188

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia
Inborn genetic diseases
Amyotrophic lateral sclerosis type 4
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2

Criteria Provided
Conflicting Classifications

rs_62576475

6 SubmittersRCV001579904 RCV001847306 RCV002458544 RCV003234085 RCV003771763 RCV003234084

NM_000454.5(SOD1):c.374A>G (p.Asp125Gly)

SNV
Germline

Chr21:31668487

Pathogenic/Likely pathogenic

Condition: not provided
Amyotrophic lateral sclerosis type 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1568811366

2 SubmittersRCV001586243 RCV001866126

NM_007126.5(VCP):c.18-4C>G

SNV
Germline

Chr9:35068366

Conflicting classifications of pathogenicity

Condition: not provided
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia

Criteria Provided
Conflicting Classifications

rs_1563981227

2 SubmittersRCV001663535 RCV002538570

NM_015046.7(SETX):c.1343A>C (p.Asp448Ala)

SNV
Germline

Chr9:132330255

Conflicting classifications of pathogenicity

Condition: not provided
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2

Criteria Provided
Conflicting Classifications

rs_370363342

2 SubmittersRCV001663589 RCV003771827

NM_015046.7(SETX):c.4517T>C (p.Met1506Thr)

SNV
Germline

Chr9:132327081

Conflicting classifications of pathogenicity

Condition: not provided
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Inborn genetic diseases
SETX-related disorder

Criteria Provided
Conflicting Classifications

rs_199974622

6 SubmittersRCV001663594 RCV001882760 RCV003234091 RCV003234092 RCV002334641 RCV004542065

NM_015046.7(SETX):c.3115A>G (p.Ile1039Val)

SNV
Germline

Chr9:132328483

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2

Criteria Provided
Conflicting Classifications

rs_372529790

4 SubmittersRCV001754372 RCV002543933 RCV003234096 RCV003234097 RCV003771906

NM_015046.7(SETX):c.4291C>G (p.Pro1431Ala)

SNV
Germline

Chr9:132327307

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
SETX-related disorder

Criteria Provided
Conflicting Classifications

rs_371541705

5 SubmittersRCV001752398 RCV002329733 RCV002540427 RCV003234111 RCV003234112 RCV004528530

NM_015046.7(SETX):c.2543T>G (p.Val848Gly)

SNV
Germline

Chr9:132329055

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
SETX-related disorder

Criteria Provided
Conflicting Classifications

rs_567711722

5 SubmittersRCV001758833 RCV001847330 RCV002540424 RCV003446904 RCV004536293

NM_015046.7(SETX):c.4600G>A (p.Asp1534Asn)

SNV
Germline

Chr9:132326998

Conflicting classifications of pathogenicity

Condition: not provided
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2

Criteria Provided
Conflicting Classifications

rs_746807833

2 SubmittersRCV001754746 RCV003771980

NM_013254.4(TBK1):c.1207C>T (p.His403Tyr)

SNV
Germline

Chr12:64485472

Conflicting classifications of pathogenicity

Condition: not provided
Frontotemporal dementia and/or amyotrophic lateral sclerosis 4

Criteria Provided
Conflicting Classifications

rs_749709445

2 SubmittersRCV001755326 RCV002540614

NM_003900.5(SQSTM1):c.1054G>T (p.Glu352Ter)

SNV
Germline

Chr5:179833671

Conflicting classifications of pathogenicity

Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
Paget disease of bone 2, early-onset
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_765610848

2 SubmittersRCV001868769 RCV003238467

NM_015046.7(SETX):c.4136A>G (p.His1379Arg)

SNV
Germline

Chr9:132327462

Conflicting classifications of pathogenicity

Condition: not provided
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4

Criteria Provided
Conflicting Classifications

rs_181158146

2 SubmittersRCV001794763 RCV002541275

NM_015046.7(SETX):c.202C>T (p.Arg68Cys)

SNV
Germline

Chr9:132346447

Conflicting classifications of pathogenicity

Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4

Criteria Provided
Conflicting Classifications

rs_771481623

2 SubmittersRCV001799572 RCV003772202

NM_015046.7(SETX):c.2985A>C (p.Lys995Asn)

SNV
Germline

Chr9:132328613

Conflicting classifications of pathogenicity

Condition: not provided
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4

Criteria Provided
Conflicting Classifications

rs_1285317289

2 SubmittersRCV001811831 RCV001869470

NM_001199397.3(NEK1):c.1957C>T (p.Arg653Ter)

SNV
Germline

Chr4:169507087

Pathogenic

Short-rib thoracic dysplasia 6 with or without polydactyly
Amyotrophic lateral sclerosis, susceptibility to, 24
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_773156346

3 SubmittersRCV001806406 RCV003147682 RCV003327523

NM_004960.4(FUS):c.1542-1G>C

SNV
Germline

Chr16:31191398

Likely pathogenic

Amyotrophic lateral sclerosis type 6

Criteria Provided
Single Submitter

rs_1596914113

1 SubmittersRCV001808069

NM_006262.4(PRPH):c.607-1G>A

SNV
Germline

Chr12:49296431

Likely pathogenic

Amyotrophic lateral sclerosis type 1

Criteria Provided
Single Submitter

rs_781660354

1 SubmittersRCV001808230

NM_015046.7(SETX):c.1110G>A (p.Trp370Ter)

SNV
Germline

Chr9:132330488

Likely pathogenic

Amyotrophic lateral sclerosis type 4

Criteria Provided
Single Submitter

rs_2131463657

1 SubmittersRCV001809082

NM_014845.6(FIG4):c.2376+2T>G

SNV
Germline

Chr6:109791573

Likely pathogenic

Amyotrophic lateral sclerosis type 11
Yunis-Varon syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_756308787

2 SubmittersRCV001809193 RCV003147683

NM_007126.5(VCP):c.1460G>A (p.Arg487His)

SNV
Germline

Chr9:35060823

Conflicting classifications of pathogenicity

Condition: not provided
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia

Criteria Provided
Conflicting Classifications

rs_767379602

4 SubmittersRCV001816505 RCV003772278

NM_015046.7(SETX):c.7720G>A (p.Glu2574Lys)

SNV
Germline

Chr9:132264553

Conflicting classifications of pathogenicity

Condition: not provided
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2

Criteria Provided
Conflicting Classifications

rs_145345675

2 SubmittersRCV001816518 RCV002541948

NM_020919.4(ALS2):c.1649C>T (p.Pro550Leu)

SNV
Germline

Chr2:201753234

Likely pathogenic

Amyotrophic lateral sclerosis type 2, juvenile

Criteria Provided
Multiple Submitters
No Conflicts

rs_2106071765

2 SubmittersRCV001824228

NM_013254.4(TBK1):c.349C>T (p.Arg117Ter)

SNV
Germline

Chr12:64464454

Pathogenic/Likely pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 4

Criteria Provided
Multiple Submitters
No Conflicts

rs_757203783

2 SubmittersRCV001825077

NM_000454.5(SOD1):c.450T>G (p.Ile150Met)

SNV
Germline

Chr21:31668563

Likely pathogenic

Amyotrophic lateral sclerosis

Criteria Provided
Single Submitter

rs_2123437030

1 SubmittersRCV001843934

NM_015046.7(SETX):c.1227A>G (p.Leu409=)

SNV
Germline

Chr9:132330371

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Condition: not provided
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4

Criteria Provided
Conflicting Classifications

rs_769913556

3 SubmittersRCV001847553 RCV002227284 RCV002543367

NM_015046.7(SETX):c.2427C>G (p.Ile809Met)

SNV
Germline

Chr9:132329171

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4

Criteria Provided
Conflicting Classifications

rs_765654690

2 SubmittersRCV001847558 RCV003772374

NM_015046.7(SETX):c.304A>G (p.Thr102Ala)

SNV
Germline

Chr9:132346345

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_770962447

3 SubmittersRCV001848119 RCV002034740 RCV002449445

NM_015046.7(SETX):c.3555G>A (p.Gln1185=)

SNV
Germline

Chr9:132328043

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2

Criteria Provided
Conflicting Classifications

rs_762171056

2 SubmittersRCV001848120 RCV002077332

NM_015046.7(SETX):c.43A>G (p.Ile15Val)

SNV
Germline

Chr9:132349386

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4

Criteria Provided
Conflicting Classifications

rs_151040199

3 SubmittersRCV001848122 RCV002034741 RCV003234117 RCV003234118

NM_015046.7(SETX):c.5973C>T (p.Asp1991=)

SNV
Germline

Chr9:132296005

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4

Criteria Provided
Conflicting Classifications

rs_1210056357

2 SubmittersRCV001848124 RCV003772375

NM_015046.7(SETX):c.6024T>C (p.Pro2008=)

SNV
Germline

Chr9:132295954

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
SETX-related disorder

Criteria Provided
Conflicting Classifications

rs_1045096306

3 SubmittersRCV001848125 RCV002074408 RCV004536353

NM_015046.7(SETX):c.77C>T (p.Pro26Leu)

SNV
Germline

Chr9:132349352

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4

Criteria Provided
Conflicting Classifications

rs_377617692

2 SubmittersRCV001848131 RCV003120722

NM_025137.4(SPG11):c.3648G>A (p.Leu1216=)

SNV
Germline

Chr15:44600505

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Hereditary spastic paraplegia 11
Amyotrophic lateral sclerosis type 5
Charcot-Marie-Tooth disease axonal type 2X

Criteria Provided
Conflicting Classifications

rs_370282739

3 SubmittersRCV001848193 RCV001885409 RCV002468335 RCV002468336

NM_015046.7(SETX):c.1791C>G (p.Phe597Leu)

SNV
Germline

Chr9:132329807

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_1338284039

2 SubmittersRCV002028744 RCV002407278

NM_013254.4(TBK1):c.1189+1G>T

SNV
Germline

Chr12:64484500

Likely pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 4

Criteria Provided
Single Submitter

rs_2136078402

1 SubmittersRCV002039154

NM_004984.4(KIF5A):c.3032C>T (p.Pro1011Leu)

SNV
Germline

Chr12:57583112

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia 10
Myoclonus, intractable, neonatal
Amyotrophic lateral sclerosis, susceptibility to, 25

Criteria Provided
Conflicting Classifications

rs_751496558

2 SubmittersRCV001924858 RCV002490120

NM_001008212.2(OPTN):c.370-1G>A

SNV
Germline

Chr10:13112452

Likely pathogenic

Glaucoma 1, open angle, E
Amyotrophic lateral sclerosis type 12
Primary open angle glaucoma

Criteria Provided
Single Submitter

rs_2131488754

1 SubmittersRCV001973985

NM_015046.7(SETX):c.1484T>C (p.Leu495Pro)

SNV
Germline

Chr9:132330114

Pathogenic

Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2

Criteria Provided
Single Submitter

rs_2131461009

1 SubmittersRCV001872206

NM_004738.5(VAPB):c.550C>T (p.Arg184Trp)

SNV
Germline

Chr20:58441060

Conflicting classifications of pathogenicity

Adult-onset proximal spinal muscular atrophy, autosomal dominant
Amyotrophic lateral sclerosis type 8
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_750394268

2 SubmittersRCV002254732 RCV003166941

NM_007126.5(VCP):c.273C>A (p.Asn91Lys)

SNV
Germline

Chr9:35067920

Likely pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia

Criteria Provided
Single Submitter

rs_1563980966

1 SubmittersRCV002015462

NM_015046.7(SETX):c.3605A>G (p.Asp1202Gly)

SNV
Germline

Chr9:132327993

Conflicting classifications of pathogenicity

Inborn genetic diseases
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4

Criteria Provided
Conflicting Classifications

rs_138167195

3 SubmittersRCV002454319 RCV002036086 RCV003234164 RCV003234165

NM_015046.7(SETX):c.3815A>G (p.Lys1272Arg)

SNV
Germline

Chr9:132327783

Conflicting classifications of pathogenicity

Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_202204341

2 SubmittersRCV001889286 RCV002361171

NM_013254.4(TBK1):c.1189+1G>A

SNV
Germline

Chr12:64484500

Likely pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 4

Criteria Provided
Single Submitter

rs_2136078402

1 SubmittersRCV002019738

NM_213720.3(CHCHD10):c.42-5C>G

SNV
Germline

Chr22:23767598

Conflicting classifications of pathogenicity

Lower motor neuron syndrome with late-adult onset
Frontotemporal dementia and/or amyotrophic lateral sclerosis 2
Autosomal dominant mitochondrial myopathy with exercise intolerance
CHCHD10-related disorder

Criteria Provided
Conflicting Classifications

rs_868345557

2 SubmittersRCV001987738 RCV003395311

NM_001199397.3(NEK1):c.2588-2A>G

SNV
Germline

Chr4:169438261

Likely pathogenic

Short-rib thoracic dysplasia 6 with or without polydactyly
Short-rib thoracic dysplasia 6 with or without polydactyly
Amyotrophic lateral sclerosis, susceptibility to, 24

Criteria Provided
Multiple Submitters
No Conflicts

rs_201769828

2 SubmittersRCV001971012 RCV002497931

NM_015046.7(SETX):c.6805T>A (p.Ser2269Thr)

SNV
Germline

Chr9:132278107

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_1421665944

2 SubmittersRCV001982434 RCV004043685

NM_015046.7(SETX):c.571G>A (p.Glu191Lys)

SNV
Germline

Chr9:132336443

Conflicting classifications of pathogenicity

Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_929798338

3 SubmittersRCV001985315 RCV003234143 RCV003234144 RCV002344097

NM_015046.7(SETX):c.998A>G (p.Asn333Ser)

SNV
Germline

Chr9:132331289

Conflicting classifications of pathogenicity

Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Condition: not provided
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4

Criteria Provided
Conflicting Classifications

rs_538829833

3 SubmittersRCV001977566 RCV002074446 RCV003234147 RCV003234148

NM_003900.5(SQSTM1):c.970-2A>G

SNV
Germline

Chr5:179833585

Likely pathogenic

Paget disease of bone 2, early-onset
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1

Criteria Provided
Single Submitter

rs_2113512370

1 SubmittersRCV001977620

NM_007126.5(VCP):c.472A>G (p.Met158Val)

SNV
Germline

Chr9:35065355

Pathogenic

Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6

Criteria Provided
Single Submitter

rs_1554668813

1 SubmittersRCV001953725

NM_007126.5(VCP):c.469G>A (p.Gly157Arg)

SNV
Germline

Chr9:35065358

Pathogenic

Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6

Criteria Provided
Single Submitter

rs_1554668814

1 SubmittersRCV001972632

NM_007126.5(VCP):c.463C>A (p.Arg155Ser)

SNV
Germline

Chr9:35065364

Pathogenic

Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6

Criteria Provided
Single Submitter

rs_121909330

1 SubmittersRCV001949225

NM_001008212.2(OPTN):c.1401+4A>G

SNV
Germline

Chr10:13127907

Conflicting classifications of pathogenicity

Glaucoma 1, open angle, E
Primary open angle glaucoma
Amyotrophic lateral sclerosis type 12
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_371470839

2 SubmittersRCV001999337 RCV002389016

NM_015046.7(SETX):c.503G>A (p.Arg168Gln)

SNV
Germline

Chr9:132336511

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
not specified

Criteria Provided
Conflicting Classifications

rs_772017103

2 SubmittersRCV001943737 RCV003120753

NM_000454.5(SOD1):c.437C>T (p.Ala146Val)

SNV
Germline

Chr21:31668550

Likely pathogenic

Amyotrophic lateral sclerosis type 1

Criteria Provided
Single Submitter

rs_1131690781

1 SubmittersRCV001976221

NM_003900.5(SQSTM1):c.1165G>C (p.Glu389Gln)

SNV
Germline

Chr5:179833782

Pathogenic

Paget disease of bone 2, early-onset
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1

Criteria Provided
Single Submitter

rs_1391182750

1 SubmittersRCV001949681

NM_000454.5(SOD1):c.62T>G (p.Phe21Cys)

SNV
Germline

Chr21:31659831

Pathogenic

Amyotrophic lateral sclerosis type 1

Criteria Provided
Single Submitter

rs_1555836169

1 SubmittersRCV001958950

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

SNV
Germline

Chr2:74361513

Likely pathogenic

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

Criteria Provided
Single Submitter

rs_766653950

1 SubmittersRCV001973433

NM_015046.7(SETX):c.3681T>A (p.Cys1227Ter)

SNV
Germline

Chr9:132327917

Pathogenic

Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2

Criteria Provided
Single Submitter

rs_2131440608

1 SubmittersRCV002014627

NM_000454.5(SOD1):c.69G>C (p.Gln23His)

SNV
Germline

Chr21:31659838

Likely pathogenic

Amyotrophic lateral sclerosis type 1
SOD1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_1424217272

2 SubmittersRCV002020327 RCV003408072

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

SNV
Germline

Chr2:74362991

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_370727908

2 SubmittersRCV001928976 RCV002458819

NM_015046.7(SETX):c.7447G>A (p.Gly2483Arg)

SNV
Germline

Chr9:132264826

Likely pathogenic

Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2

Criteria Provided
Single Submitter

rs_183776349

1 SubmittersRCV001977831

NM_013254.4(TBK1):c.1070G>A (p.Arg357Gln)

SNV
Germline

Chr12:64484380

Pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 4

Criteria Provided
Single Submitter

rs_758357594

1 SubmittersRCV002000195

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

SNV
Germline

Chr2:74371569

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_770153273

2 SubmittersRCV001988163 RCV002352696

NM_015046.7(SETX):c.6842+1G>T

SNV
Germline

Chr9:132278069

Likely pathogenic

Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2

Criteria Provided
Single Submitter

rs_1038776365

1 SubmittersRCV001983771

NM_004960.4(FUS):c.484A>C (p.Asn162His)

SNV
Germline

Chr16:31184357

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 6
Tremor, hereditary essential, 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_200264565

2 SubmittersRCV002024497 RCV002337163

NM_000454.5(SOD1):c.49G>T (p.Gly17Cys)

SNV
Germline

Chr21:31659818

Likely pathogenic

Amyotrophic lateral sclerosis type 1

Criteria Provided
Single Submitter

rs_121912453

1 SubmittersRCV001971733

NM_015046.7(SETX):c.5936G>A (p.Arg1979His)

SNV
Germline

Chr9:132296900

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Inborn genetic diseases
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4

Criteria Provided
Conflicting Classifications

rs_761031238

3 SubmittersRCV002004187 RCV002352738 RCV003234157 RCV003234158

NM_015046.7(SETX):c.2935G>A (p.Asp979Asn)

SNV
Germline

Chr9:132328663

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Condition: not provided
Inborn genetic diseases
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2

Criteria Provided
Conflicting Classifications

rs_138287942

5 SubmittersRCV001870813 RCV002282623 RCV002440950 RCV003234126 RCV003234125

NM_015046.7(SETX):c.1086A>C (p.Glu362Asp)

SNV
Germline

Chr9:132331064

Conflicting classifications of pathogenicity

Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Inborn genetic diseases
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4

Criteria Provided
Conflicting Classifications

rs_768198537

3 SubmittersRCV001990970 RCV002425372 RCV003234149 RCV003234150

NM_005866.4(SIGMAR1):c.86G>A (p.Trp29Ter)

SNV
Germline

Chr9:34637612

Pathogenic

Autosomal recessive distal spinal muscular atrophy 2
Amyotrophic lateral sclerosis type 16

Criteria Provided
Single Submitter

rs_1449250083

1 SubmittersRCV001942103

NM_000454.5(SOD1):c.449T>C (p.Ile150Thr)

SNV
Germline

Chr21:31668562

Pathogenic/Likely pathogenic

Amyotrophic lateral sclerosis type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1424014997

3 SubmittersRCV001942245 RCV002473336

NM_015046.7(SETX):c.3640A>G (p.Arg1214Gly)

SNV
Germline

Chr9:132327958

Conflicting classifications of pathogenicity

Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_371687197

2 SubmittersRCV002012690 RCV002625345

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

rs_1299296008

2 SubmittersRCV002040556 RCV003303635

NM_015046.7(SETX):c.2125A>G (p.Thr709Ala)

SNV
Germline

Chr9:132329473

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Condition: not provided
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4

Criteria Provided
Conflicting Classifications

rs_750530263

3 SubmittersRCV001883125 RCV002473312 RCV003234128 RCV003234129

NM_015046.7(SETX):c.5171G>A (p.Ser1724Asn)

SNV
Germline

Chr9:132326427

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_770527045

2 SubmittersRCV001938770 RCV003434361

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

SNV
Germline

Chr2:74378206

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_756611519

2 SubmittersRCV001995802 RCV002295358

NM_021076.4(NEFH):c.1321G>A (p.Glu441Lys)

SNV
Germline

Chr22:29488961

Conflicting classifications of pathogenicity

Condition: not provided
Amyotrophic lateral sclerosis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_145061116

3 SubmittersRCV001885731 RCV003107875 RCV002386641

NM_013254.4(TBK1):c.1335G>A (p.Trp445Ter)

SNV
Germline

Chr12:64486012

Pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 4

Criteria Provided
Single Submitter

rs_2136079548

1 SubmittersRCV001901321

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

rs_121909342

2 SubmittersRCV001972819 RCV003447327

NM_015046.7(SETX):c.7481A>G (p.Lys2494Arg)

SNV
Germline

Chr9:132264792

Conflicting classifications of pathogenicity

Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_755711135

2 SubmittersRCV001871125 RCV003164238

NM_003900.5(SQSTM1):c.1231G>A (p.Gly411Ser)

SNV
Germline

Chr5:179836501

Pathogenic/Likely pathogenic

Paget disease of bone 2, early-onset
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
Frontotemporal dementia and/or amyotrophic lateral sclerosis 3
Myopathy, distal, with rimmed vacuoles

Criteria Provided
Multiple Submitters
No Conflicts

rs_143511494

2 SubmittersRCV001972785 RCV003147715 RCV003333197

NM_007126.5(VCP):c.284G>A (p.Arg95His)

SNV
Germline

Chr9:35067909

Likely pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia

Criteria Provided
Single Submitter

rs_758169026

1 SubmittersRCV002018336

NM_015046.7(SETX):c.2267A>T (p.Glu756Val)

SNV
Germline

Chr9:132329331

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_202036078

2 SubmittersRCV001904685 RCV002449490

NM_003900.5(SQSTM1):c.301+1G>T

SNV
Germline

Chr5:179823054

Pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
Paget disease of bone 2, early-onset

Criteria Provided
Single Submitter

rs_2113485289

1 SubmittersRCV001908192

NM_014043.4(CHMP2B):c.321+3A>G

SNV
Germline

Chr3:87245911

Conflicting classifications of pathogenicity

Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
CHMP2B-related disorder

Criteria Provided
Conflicting Classifications

rs_989392144

2 SubmittersRCV001931937 RCV003892183

NM_015046.7(SETX):c.4970A>G (p.Asn1657Ser)

SNV
Germline

Chr9:132326628

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_567825753

2 SubmittersRCV001899854 RCV002334755

NM_000454.5(SOD1):c.43G>C (p.Val15Leu)

SNV
Germline

Chr21:31659812

Likely pathogenic

Amyotrophic lateral sclerosis type 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1568807400

2 SubmittersRCV002029618

NM_015046.7(SETX):c.991A>G (p.Ile331Val)

SNV
Germline

Chr9:132331296

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Inborn genetic diseases
Condition: not provided
SETX-related disorder

Criteria Provided
Conflicting Classifications

rs_572884359

4 SubmittersRCV001883640 RCV002386648 RCV002464496 RCV004542153

NM_013254.4(TBK1):c.125A>G (p.Asn42Ser)

SNV
Germline

Chr12:64460226

Conflicting classifications of pathogenicity

Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_748061846

2 SubmittersRCV001948003 RCV003992581

NM_015046.7(SETX):c.5302A>T (p.Asn1768Tyr)

SNV
Germline

Chr9:132311829

Conflicting classifications of pathogenicity

Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Amyotrophic lateral sclerosis type 4

Criteria Provided
Conflicting Classifications

rs_766799310

2 SubmittersRCV001940484 RCV003339824

NM_004984.4(KIF5A):c.3020+1G>C

SNV
Germline

Chr12:57582630

Pathogenic

Spastic paraplegia
Amyotrophic lateral sclerosis, susceptibility to, 25

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555179091

2 SubmittersRCV001956486 RCV003334403

NM_001008212.2(OPTN):c.780-1G>C

SNV
Germline

Chr10:13122384

Likely pathogenic

Glaucoma 1, open angle, E
Amyotrophic lateral sclerosis type 12
Primary open angle glaucoma

Criteria Provided
Single Submitter

rs_759311192

1 SubmittersRCV002003787

NM_000454.5(SOD1):c.358G>C (p.Val120Leu)

SNV
Germline

Chr21:31668471

Likely pathogenic

Amyotrophic lateral sclerosis type 1
See cases
SOD1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_1457889952

3 SubmittersRCV001978284 RCV002252747 RCV003408051

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

SNV
Germline

Chr2:74374322

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1235693710

2 SubmittersRCV001895182 RCV002276921

NM_000454.5(SOD1):c.19T>A (p.Cys7Ser)

SNV
Germline

Chr21:31659788

Pathogenic

Amyotrophic lateral sclerosis type 1

Criteria Provided
Single Submitter

rs_1312702973

1 SubmittersRCV002015993

NM_000454.5(SOD1):c.19T>G (p.Cys7Gly)

SNV
Germline

Chr21:31659788

Likely pathogenic

Amyotrophic lateral sclerosis type 1

Criteria Provided
Single Submitter

rs_1312702973

1 SubmittersRCV002016002

NM_000454.5(SOD1):c.44T>G (p.Val15Gly)

SNV
Germline

Chr21:31659813

Likely pathogenic

Amyotrophic lateral sclerosis type 1

Criteria Provided
Single Submitter

rs_1202989817

1 SubmittersRCV002016007

NM_007126.5(VCP):c.2161-4A>G

SNV
Germline

Chr9:35057534

Conflicting classifications of pathogenicity

Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_1260699314

2 SubmittersRCV002092372 RCV002427525

NM_013254.4(TBK1):c.813-7A>C

SNV
Germline

Chr12:64481835

Conflicting classifications of pathogenicity

Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8

Criteria Provided
Conflicting Classifications

rs_376075252

2 SubmittersRCV002091831 RCV003224616

NM_015046.7(SETX):c.4916A>C (p.Gln1639Pro)

SNV
Germline

Chr9:132326682

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Inborn genetic diseases
SETX-related disorder

Criteria Provided
Conflicting Classifications

rs_150918808

3 SubmittersRCV002106306 RCV002337330 RCV004543861

NM_013444.4(UBQLN2):c.1019G>T (p.Ser340Ile)

SNV
Germline

ChrX:56564892

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 15
UBQLN2-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_201549050

3 SubmittersRCV002162796 RCV003403700 RCV003883774

NM_013254.4(TBK1):c.2139-7G>A

SNV
Germline

Chr12:64501323

Conflicting classifications of pathogenicity

Frontotemporal dementia and/or amyotrophic lateral sclerosis 4

Criteria Provided
Conflicting Classifications

rs_534404556

2 SubmittersRCV002153421

NM_015046.7(SETX):c.2688G>T (p.Leu896Phe)

SNV
Germline

Chr9:132328910

Conflicting classifications of pathogenicity

Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
See cases
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_370551247

3 SubmittersRCV002146250 RCV002252771 RCV002454541

NM_001008212.2(OPTN):c.780-2A>C

SNV
Germline

Chr10:13122383

Likely pathogenic

Amyotrophic lateral sclerosis type 12
Amyotrophic lateral sclerosis type 12
Primary open angle glaucoma
Glaucoma 1, open angle, E

Criteria Provided
Multiple Submitters
No Conflicts

rs_768117011

3 SubmittersRCV002221422 RCV003774638

NM_000454.5(SOD1):c.346C>T (p.Arg116Cys)

SNV
Germline

Chr21:31667364

Conflicting classifications of pathogenicity

Condition: not provided
Amyotrophic lateral sclerosis type 1

Criteria Provided
Conflicting Classifications

rs_1301635320

2 SubmittersRCV002224674 RCV003089182

NM_020919.4(ALS2):c.4223T>A (p.Leu1408Ter)

SNV
Germline

Chr2:201709938

Pathogenic

Amyotrophic lateral sclerosis type 2, juvenile

Criteria Provided
Single Submitter

rs_2105972075

1 SubmittersRCV002223744

NM_015046.7(SETX):c.7856A>G (p.Gln2619Arg)

SNV
Germline

Chr9:132264417

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2

Criteria Provided
Conflicting Classifications

rs_1421049695

3 SubmittersRCV002227352 RCV002409625 RCV003234170 RCV003234169

NM_020919.4(ALS2):c.4270C>T (p.Gln1424Ter)

SNV
Germline

Chr2:201709891

Pathogenic

Juvenile amyotrophic lateral sclerosis
Infantile-onset ascending hereditary spastic paralysis

Criteria Provided
Multiple Submitters
No Conflicts

rs_1689931402

2 SubmittersRCV002227850 RCV002259411

NM_015046.7(SETX):c.1167A>C (p.Leu389Phe)

SNV
Germline

Chr9:132330431

Likely pathogenic

Amyotrophic lateral sclerosis type 4

Criteria Provided
Single Submitter

rs_2131463306

1 SubmittersRCV002249165

NM_000454.5(SOD1):c.449T>A (p.Ile150Asn)

SNV
Germline

Chr21:31668562

Likely pathogenic

Amyotrophic lateral sclerosis type 1

Criteria Provided
Single Submitter

rs_1424014997

1 SubmittersRCV002249177

NM_020919.4(ALS2):c.2580+2T>C

SNV
Germline

Chr2:201733274

Pathogenic

Infantile-onset ascending hereditary spastic paralysis
Amyotrophic lateral sclerosis type 2, juvenile

Criteria Provided
Multiple Submitters
No Conflicts

rs_2106023727

2 SubmittersRCV002259429 RCV003225989

NM_015046.7(SETX):c.5320C>T (p.Gln1774Ter)

SNV
Germline

Chr9:132311811

Pathogenic/Likely pathogenic

Condition: not provided
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2

Criteria Provided
Multiple Submitters
No Conflicts

rs_1391764195

2 SubmittersRCV002260793 RCV003774803

NM_013254.4(TBK1):c.1978C>T (p.Gln660Ter)

SNV
Germline

Chr12:64497666

Likely pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 4

Criteria Provided
Single Submitter

rs_2136088954

1 SubmittersRCV002272614

NM_005866.4(SIGMAR1):c.637G>A (p.Glu213Lys)

SNV
Germline

Chr9:34635667

Likely pathogenic

Amyotrophic lateral sclerosis type 16

Criteria Provided
Single Submitter

rs_2132323906

1 SubmittersRCV002273264

NM_020919.4(ALS2):c.142C>G (p.Leu48Val)

SNV
Unknown

Chr2:201767262

Likely pathogenic

Amyotrophic lateral sclerosis

No Assertion Criteria Provided

1 SubmittersRCV003107983

NM_013254.4(TBK1):c.352G>A (p.Asp118Asn)

SNV
Germline

Chr12:64464457

Likely pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 4

Criteria Provided
Single Submitter

1 SubmittersRCV002283871

NM_000454.5(SOD1):c.197A>G (p.Asn66Ser)

SNV
Germline

Chr21:31666476

Pathogenic/Likely pathogenic

Amyotrophic lateral sclerosis type 1

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002290075

NM_001080421.3(UNC13A):c.1668C>A (p.Phe556Leu)

SNV
Germline

Chr19:17648579

Likely pathogenic

Amyotrophic lateral sclerosis type 1

Criteria Provided
Single Submitter

1 SubmittersRCV002290338

NM_000454.5(SOD1):c.445G>A (p.Val149Ile)

SNV
Germline

Chr21:31668558

Likely pathogenic

Condition: not provided
Amyotrophic lateral sclerosis type 1

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002293058 RCV003517366

NM_015046.7(SETX):c.5375-9G>A

SNV
Germline

Chr9:132300812

Conflicting classifications of pathogenicity

not specified
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002308693 RCV003775020

NM_015046.7(SETX):c.407C>T (p.Ala136Val)

SNV
Germline

Chr9:132342781

Conflicting classifications of pathogenicity

Inborn genetic diseases
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002323102 RCV003094510

NM_015046.7(SETX):c.3187A>G (p.Lys1063Glu)

SNV
Germline

Chr9:132328411

Conflicting classifications of pathogenicity

Inborn genetic diseases
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002322805 RCV003099274

NM_015046.7(SETX):c.43A>T (p.Ile15Phe)

SNV
Germline

Chr9:132349386

Conflicting classifications of pathogenicity

Inborn genetic diseases
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002333717 RCV003102579

NM_015046.7(SETX):c.3161A>C (p.Asn1054Thr)

SNV
Germline

Chr9:132328437

Conflicting classifications of pathogenicity

Inborn genetic diseases
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002320942 RCV003099247

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
Perry syndrome
Neuronopathy, distal hereditary motor, type 7B

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002324945 RCV003099343

NM_015046.7(SETX):c.3281A>G (p.Gln1094Arg)

SNV
Germline

Chr9:132328317

Conflicting classifications of pathogenicity

Inborn genetic diseases
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
SETX-related disorder

Criteria Provided
Conflicting Classifications

3 SubmittersRCV002445758 RCV003775577 RCV004534049

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

SNV
Germline

Chr2:74377472

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002339845 RCV003775676

NM_015046.7(SETX):c.4934C>G (p.Ala1645Gly)

SNV
Germline

Chr9:132326664

Conflicting classifications of pathogenicity

Inborn genetic diseases
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4

Criteria Provided
Conflicting Classifications

3 SubmittersRCV002342644 RCV003096534 RCV003234182 RCV003234183

NM_015046.7(SETX):c.4978C>T (p.His1660Tyr)

SNV
Germline

Chr9:132326620

Conflicting classifications of pathogenicity

Inborn genetic diseases
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002342875 RCV003776005

NM_015046.7(SETX):c.4991C>T (p.Pro1664Leu)

SNV
Germline

Chr9:132326607

Conflicting classifications of pathogenicity

Inborn genetic diseases
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
SETX-related disorder

Criteria Provided
Conflicting Classifications

3 SubmittersRCV002342956 RCV003776010 RCV004529133

NM_004960.4(FUS):c.831C>T (p.Ser277=)

SNV
Germline

Chr16:31188356

Conflicting classifications of pathogenicity

Inborn genetic diseases
Amyotrophic lateral sclerosis type 6
Tremor, hereditary essential, 4

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002430422 RCV003776492

NM_015046.7(SETX):c.7810G>T (p.Val2604Leu)

SNV
Germline

Chr9:132264463

Conflicting classifications of pathogenicity

Inborn genetic diseases
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002409962 RCV003776443

NM_015046.7(SETX):c.7895G>T (p.Arg2632Met)

SNV
Germline

Chr9:132264378

Conflicting classifications of pathogenicity

Inborn genetic diseases
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002416595 RCV003120965

NM_015046.7(SETX):c.7454G>A (p.Arg2485Lys)

SNV
Germline

Chr9:132264819

Conflicting classifications of pathogenicity

Inborn genetic diseases
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002385128 RCV003099642

NM_004738.5(VAPB):c.700G>A (p.Val234Ile)

SNV
Germline

Chr20:58444203

Conflicting classifications of pathogenicity

Inborn genetic diseases
Amyotrophic lateral sclerosis type 8
Adult-onset proximal spinal muscular atrophy, autosomal dominant

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002364823 RCV003098447

NM_015046.7(SETX):c.1583C>T (p.Ser528Phe)

SNV
Germline

Chr9:132330015

Conflicting classifications of pathogenicity

Inborn genetic diseases
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4

Criteria Provided
Conflicting Classifications

3 SubmittersRCV002398270 RCV003096972 RCV003234198 RCV003234199

NM_015046.7(SETX):c.1655A>C (p.Gln552Pro)

SNV
Germline

Chr9:132329943

Conflicting classifications of pathogenicity

Inborn genetic diseases
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002403715 RCV003774444

NM_015046.7(SETX):c.1919C>G (p.Ala640Gly)

SNV
Germline

Chr9:132329679

Conflicting classifications of pathogenicity

Inborn genetic diseases
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Condition: not provided

Criteria Provided
Conflicting Classifications

3 SubmittersRCV002410649 RCV003774565 RCV003138258

NM_015046.7(SETX):c.2380G>A (p.Val794Ile)

SNV
Germline

Chr9:132329218

Conflicting classifications of pathogenicity

Inborn genetic diseases
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002457896 RCV003775216

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

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

2 SubmittersRCV002437243 RCV003102042

NM_015046.7(SETX):c.241A>G (p.Ile81Val)

SNV
Germline

Chr9:132346408

Conflicting classifications of pathogenicity

Inborn genetic diseases
Condition: not provided
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4

Criteria Provided
Conflicting Classifications

3 SubmittersRCV002450385 RCV003482412 RCV003775239

NM_001008212.2(OPTN):c.493C>T (p.Gln165Ter)

SNV
Germline

Chr10:13112576

Pathogenic/Likely pathogenic

Amyotrophic lateral sclerosis type 10
Amyotrophic lateral sclerosis type 12
Glaucoma 1, open angle, E
Primary open angle glaucoma

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002463849 RCV003103163

NM_015046.7(SETX):c.1011-2A>G

SNV
Germline

Chr9:132331141

Likely pathogenic

Amyotrophic lateral sclerosis type 4

Criteria Provided
Single Submitter

1 SubmittersRCV002466811

NM_015046.7(SETX):c.5858C>T (p.Pro1953Leu)

SNV
Germline

Chr9:132296978

Conflicting classifications of pathogenicity

Condition: not provided
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002469835 RCV002569368

NM_013254.4(TBK1):c.1856G>A (p.Trp619Ter)

SNV
Germline

Chr12:64497044

Pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 4

Criteria Provided
Single Submitter

1 SubmittersRCV002471876

NM_003900.5(SQSTM1):c.1207T>A (p.Ser403Thr)

SNV
Germline

Chr5:179836477

Conflicting classifications of pathogenicity

Condition: not provided
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
Paget disease of bone 2, early-onset
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

3 SubmittersRCV002474117 RCV002571508 RCV004064255

NM_015046.7(SETX):c.973A>G (p.Asn325Asp)

SNV
Germline

Chr9:132331314

Conflicting classifications of pathogenicity

Condition: not provided
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002474444 RCV002569401

NM_015046.7(SETX):c.2887C>T (p.His963Tyr)

SNV
Germline

Chr9:132328711

Conflicting classifications of pathogenicity

Condition: not provided
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4

Criteria Provided
Conflicting Classifications

3 SubmittersRCV002474448 RCV002569402

NM_015046.7(SETX):c.1771A>G (p.Ile591Val)

SNV
Germline

Chr9:132329827

Conflicting classifications of pathogenicity

Condition: not provided
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002474452 RCV002571527

NM_015046.7(SETX):c.5549-5G>A

SNV
Germline

Chr9:132298317

Conflicting classifications of pathogenicity

Condition: not provided
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002474453 RCV002574698

NM_015046.7(SETX):c.7079A>G (p.Asp2360Gly)

SNV
Germline

Chr9:132275277

Conflicting classifications of pathogenicity

Condition: not provided
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002474455 RCV003775541

NM_015046.7(SETX):c.3607A>G (p.Arg1203Gly)

SNV
Germline

Chr9:132327991

Conflicting classifications of pathogenicity

Condition: not provided
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002474457 RCV002571528

NM_000454.5(SOD1):c.401A>C (p.Glu134Ala)

SNV
Germline

Chr21:31668514

Conflicting classifications of pathogenicity

Condition: not provided
Amyotrophic lateral sclerosis type 1

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002475374 RCV002571542

NM_000454.5(SOD1):c.10A>G (p.Lys4Glu)

SNV
Germline

Chr21:31659779

Pathogenic

Amyotrophic lateral sclerosis type 1

Criteria Provided
Single Submitter

1 SubmittersRCV003064620

NM_000454.5(SOD1):c.116T>A (p.Leu39Gln)

SNV
Germline

Chr21:31663833

Likely pathogenic

Amyotrophic lateral sclerosis type 1

Criteria Provided
Single Submitter

1 SubmittersRCV003041393

NM_000454.5(SOD1):c.335G>A (p.Cys112Tyr)

SNV
Germline

Chr21:31667353

Pathogenic

Amyotrophic lateral sclerosis type 1

Criteria Provided
Single Submitter

1 SubmittersRCV003064621

NM_000454.5(SOD1):c.344G>C (p.Gly115Ala)

SNV
Germline

Chr21:31667362

Pathogenic

Amyotrophic lateral sclerosis type 1

Criteria Provided
Single Submitter

1 SubmittersRCV003064622

NM_000454.5(SOD1):c.380T>C (p.Leu127Ser)

SNV
Germline

Chr21:31668493

Pathogenic

Amyotrophic lateral sclerosis type 1

Criteria Provided
Single Submitter

1 SubmittersRCV003064624

NM_000454.5(SOD1):c.401A>G (p.Glu134Gly)

SNV
Germline

Chr21:31668514

Pathogenic

Amyotrophic lateral sclerosis type 1

Criteria Provided
Single Submitter

1 SubmittersRCV003064625

NM_000454.5(SOD1):c.439T>C (p.Cys147Arg)

SNV
Germline

Chr21:31668552

Likely pathogenic

Amyotrophic lateral sclerosis type 1

Criteria Provided
Single Submitter

1 SubmittersRCV003064626

NM_004082.5(DCTN1):c.1232G>A (p.Arg411His)

SNV
Germline

Chr2:74370241

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003060366 RCV003358069

NM_013254.4(TBK1):c.4C>T (p.Gln2Ter)

SNV
Germline

Chr12:64455874

Pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 4

Criteria Provided
Single Submitter

1 SubmittersRCV003058387

NM_013254.4(TBK1):c.1496C>G (p.Ser499Ter)

SNV
Germline

Chr12:64490094

Pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 4

Criteria Provided
Single Submitter

1 SubmittersRCV003062524

NM_007126.5(VCP):c.466G>A (p.Gly156Ser)

SNV
Germline

Chr9:35065361

Pathogenic

Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6

Criteria Provided
Single Submitter

1 SubmittersRCV003037322

NM_015046.7(SETX):c.7100+2T>C

SNV
Germline

Chr9:132275254

Likely pathogenic

Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2

Criteria Provided
Single Submitter

1 SubmittersRCV003062238

NM_015046.7(SETX):c.7568C>T (p.Thr2523Ile)

SNV
Germline

Chr9:132264705

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003078977 RCV003482439

NM_007375.4(TARDBP):c.1129T>A (p.Ser377Thr)

SNV
Germline

Chr1:11022538

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 10
TARDBP-related frontotemporal dementia
TARDBP-related disorder

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003089575 RCV003420327

NM_015046.7(SETX):c.1948A>G (p.Met650Val)

SNV
Germline

Chr9:132329650

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
not specified

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003090688 RCV003404061

NM_003900.5(SQSTM1):c.901G>T (p.Glu301Ter)

SNV
Germline

Chr5:179833178

Pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
Paget disease of bone 2, early-onset

Criteria Provided
Single Submitter

1 SubmittersRCV003090306

NM_015046.7(SETX):c.7840G>A (p.Glu2614Lys)

SNV
Germline

Chr9:132264433

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003082971 RCV003312075

NM_003900.5(SQSTM1):c.451T>G (p.Cys151Gly)

SNV
Germline

Chr5:179824007

Conflicting classifications of pathogenicity

Condition: not provided
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
Paget disease of bone 2, early-onset

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003328713 RCV003090091

NM_004960.4(FUS):c.587A>G (p.Asn196Ser)

SNV
Germline

Chr16:31185002

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 6
Tremor, hereditary essential, 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002637773 RCV002637774

NM_007375.4(TARDBP):c.1123A>G (p.Ser375Gly)

SNV
Germline

Chr1:11022532

Likely pathogenic

Amyotrophic lateral sclerosis type 10
TARDBP-related frontotemporal dementia

Criteria Provided
Single Submitter

1 SubmittersRCV002664150

NM_000454.5(SOD1):c.286G>A (p.Ala96Thr)

SNV
Germline

Chr21:31667304

Likely pathogenic

Amyotrophic lateral sclerosis type 1

Criteria Provided
Single Submitter

1 SubmittersRCV002624691

NM_001008212.2(OPTN):c.1552C>T (p.Gln518Ter)

SNV
Germline

Chr10:13133521

Pathogenic

Glaucoma 1, open angle, E
Amyotrophic lateral sclerosis type 12
Primary open angle glaucoma

Criteria Provided
Single Submitter

1 SubmittersRCV002634016

NM_015046.7(SETX):c.3881G>A (p.Arg1294His)

SNV
Germline

Chr9:132327717

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003118242 RCV003140245

NM_001008212.2(OPTN):c.1195G>T (p.Glu399Ter)

SNV
Germline

Chr10:13125992

Pathogenic/Likely pathogenic

Amyotrophic lateral sclerosis type 12
Primary open angle glaucoma
Glaucoma 1, open angle, E
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002601689 RCV003130726

NM_015046.7(SETX):c.3706G>A (p.Val1236Ile)

SNV
Germline

Chr9:132327892

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

3 SubmittersRCV002625524 RCV003167474 RCV003443064

NM_004960.4(FUS):c.253C>T (p.Gln85Ter)

SNV
Germline

Chr16:31183920

Pathogenic

Amyotrophic lateral sclerosis type 6
Tremor, hereditary essential, 4

Criteria Provided
Single Submitter

1 SubmittersRCV002617179

NM_015046.7(SETX):c.2591C>T (p.Pro864Leu)

SNV
Germline

Chr9:132329007

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002632119 RCV003156390

NM_003900.5(SQSTM1):c.205+2T>C

SNV
Germline

Chr5:179821143

Likely pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
Paget disease of bone 2, early-onset

Criteria Provided
Single Submitter

1 SubmittersRCV002780902

NM_000454.5(SOD1):c.425G>T (p.Gly142Val)

SNV
Germline

Chr21:31668538

Likely pathogenic

Amyotrophic lateral sclerosis type 1

Criteria Provided
Single Submitter

1 SubmittersRCV002810765

NM_013254.4(TBK1):c.1443-1G>T

SNV
Germline

Chr12:64490040

Likely pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 4

Criteria Provided
Single Submitter

1 SubmittersRCV002834874

NM_000454.5(SOD1):c.342T>G (p.Ile114Met)

SNV
Germline

Chr21:31667360

Likely pathogenic

Amyotrophic lateral sclerosis type 1

Criteria Provided
Single Submitter

1 SubmittersRCV002862104

NM_013254.4(TBK1):c.1341-1G>C

SNV
Germline

Chr12:64488486

Likely pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 4

Criteria Provided
Single Submitter

1 SubmittersRCV002863152

NM_013254.4(TBK1):c.944C>A (p.Ser315Ter)

SNV
Germline

Chr12:64481973

Pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 4

Criteria Provided
Single Submitter

1 SubmittersRCV002863800

NM_013254.4(TBK1):c.1644-2A>T

SNV
Germline

Chr12:64495697

Likely pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 4

Criteria Provided
Single Submitter

1 SubmittersRCV002847242

NM_007126.5(VCP):c.382G>A (p.Gly128Ser)

SNV
Germline

Chr9:35066738

Likely pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia

Criteria Provided
Single Submitter

1 SubmittersRCV002876342

NM_001008212.2(OPTN):c.703C>T (p.Gln235Ter)

SNV
Germline

Chr10:13118964

Conflicting classifications of pathogenicity

Primary open angle glaucoma
Glaucoma 1, open angle, E
Amyotrophic lateral sclerosis type 12
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002871820 RCV002898610

NM_004960.4(FUS):c.1573C>A (p.Pro525Thr)

SNV
Germline

Chr16:31191430

Pathogenic

Amyotrophic lateral sclerosis type 6
Tremor, hereditary essential, 4

Criteria Provided
Single Submitter

1 SubmittersRCV002913845

NM_015046.7(SETX):c.5443C>G (p.Pro1815Ala)

SNV
Germline

Chr9:132300735

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002917557 RCV003167901

NM_013254.4(TBK1):c.701+2T>G

SNV
Germline

Chr12:64474392

Pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 4

Criteria Provided
Single Submitter

1 SubmittersRCV002927416

NM_000454.5(SOD1):c.241C>T (p.His81Tyr)

SNV
Germline

Chr21:31667259

Likely pathogenic

Amyotrophic lateral sclerosis type 1

Criteria Provided
Single Submitter

1 SubmittersRCV002933812

NM_001008212.2(OPTN):c.235C>T (p.Gln79Ter)

SNV
Germline

Chr10:13110342

Pathogenic

Glaucoma 1, open angle, E
Primary open angle glaucoma
Amyotrophic lateral sclerosis type 12

Criteria Provided
Single Submitter

1 SubmittersRCV002942888

NM_015046.7(SETX):c.2416G>A (p.Asp806Asn)

SNV
Germline

Chr9:132329182

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
SETX-related disorder

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002948223 RCV004536475

NM_015046.7(SETX):c.4445A>G (p.Glu1482Gly)

SNV
Germline

Chr9:132327153

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
SETX-related disorder

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002948366 RCV004545446

NM_015046.7(SETX):c.331C>T (p.Arg111Ter)

SNV
Germline

Chr9:132346318

Pathogenic

Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2

Criteria Provided
Single Submitter

1 SubmittersRCV002949307

NM_015046.7(SETX):c.80C>T (p.Ser27Phe)

SNV
Germline

Chr9:132349349

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002998767 RCV004065227

NM_003900.5(SQSTM1):c.820G>T (p.Glu274Ter)

SNV
Germline

Chr5:179833097

Pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
Paget disease of bone 2, early-onset

Criteria Provided
Single Submitter

1 SubmittersRCV003002562

NM_015046.7(SETX):c.6324+5C>G

SNV
Germline

Chr9:132288231

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
SETX-related disorder

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002999498 RCV004536522

NM_001008212.2(OPTN):c.369+2T>C

SNV
Germline

Chr10:13110478

Likely pathogenic

Glaucoma 1, open angle, E
Primary open angle glaucoma
Amyotrophic lateral sclerosis type 12

Criteria Provided
Single Submitter

1 SubmittersRCV003015421

NM_013254.4(TBK1):c.1305T>A (p.Tyr435Ter)

SNV
Germline

Chr12:64485982

Pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 4

Criteria Provided
Single Submitter

1 SubmittersRCV003019974

NM_001008212.2(OPTN):c.649A>T (p.Arg217Ter)

SNV
Germline

Chr10:13118910

Pathogenic

Primary open angle glaucoma
Glaucoma 1, open angle, E
Amyotrophic lateral sclerosis type 12

Criteria Provided
Single Submitter

1 SubmittersRCV003047470

NM_015046.7(SETX):c.5059C>G (p.Pro1687Ala)

SNV
Germline

Chr9:132326539

Conflicting classifications of pathogenicity

Inborn genetic diseases
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002827479 RCV003777809

NM_015046.7(SETX):c.3181C>G (p.Pro1061Ala)

SNV
Germline

Chr9:132328417

Conflicting classifications of pathogenicity

Inborn genetic diseases
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002955067 RCV003777990

NM_014845.6(FIG4):c.1049C>T (p.Ala350Val)

SNV
Germline

Chr6:109743684

Pathogenic

Amyotrophic lateral sclerosis type 11

No Assertion Criteria Provided

1 SubmittersRCV003129580

NM_000454.5(SOD1):c.425G>C (p.Gly142Ala)

SNV
Germline

Chr21:31668538

Conflicting classifications of pathogenicity

Condition: not provided
Amyotrophic lateral sclerosis type 1

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003138556 RCV003517450

NM_015046.7(SETX):c.7361A>C (p.Asn2454Thr)

SNV
Germline

Chr9:132264912

Conflicting classifications of pathogenicity

Condition: not provided
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003136630 RCV003778788

NM_000454.5(SOD1):c.347G>A (p.Arg116His)

SNV
Germline

Chr21:31667365

Conflicting classifications of pathogenicity

Spastic tetraplegia and axial hypotonia, progressive
Amyotrophic lateral sclerosis type 1

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003148428 RCV003517461

NM_006415.4(SPTLC1):c.113T>G (p.Leu38Arg)

SNV
Germline

Chr9:92112507

Pathogenic

Amyotrophic lateral sclerosis 27, juvenile

No Assertion Criteria Provided

1 SubmittersRCV003152660

NM_015046.7(SETX):c.3064G>A (p.Asp1022Asn)

SNV
Germline

Chr9:132328534

Conflicting classifications of pathogenicity

Inborn genetic diseases
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003200237 RCV003779706

NM_015046.7(SETX):c.1419A>T (p.Lys473Asn)

SNV
Germline

Chr9:132330179

Conflicting classifications of pathogenicity

Inborn genetic diseases
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003213156 RCV003779741

NM_007375.4(TARDBP):c.1133A>G (p.Asn378Ser)

SNV
Germline

Chr1:11022542

Likely pathogenic

Amyotrophic lateral sclerosis type 10

Criteria Provided
Single Submitter

1 SubmittersRCV003226896

NM_015046.7(SETX):c.1667A>G (p.Lys556Arg)

SNV
Germline

Chr9:132329931

Conflicting classifications of pathogenicity

Inborn genetic diseases
not specified
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4

Criteria Provided
Conflicting Classifications

3 SubmittersRCV003275620 RCV003994536 RCV003779928

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

SNV
Germline

Chr2:74378000

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003321436 RCV003777323

NM_007126.5(VCP):c.766C>G (p.Arg256Gly)

SNV
Germline

Chr9:35063023

Likely pathogenic

Childhood Onset VCP-related Neurodevelopmental Disorder
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1
Charcot-Marie-Tooth disease type 2Y

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003333707 RCV003883215

NM_001199397.3(NEK1):c.1324C>T (p.Gln442Ter)

SNV
Germline

Chr4:169556038

Likely pathogenic

Amyotrophic lateral sclerosis, susceptibility to, 24

Criteria Provided
Single Submitter

1 SubmittersRCV003334442

NM_015046.7(SETX):c.2648A>G (p.Asn883Ser)

SNV
Germline

Chr9:132328950

Conflicting classifications of pathogenicity

Inborn genetic diseases
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
SETX-related disorder

Criteria Provided
Conflicting Classifications

3 SubmittersRCV003349353 RCV003777511 RCV004538949

NM_015046.7(SETX):c.4919C>T (p.Pro1640Leu)

SNV
Germline

Chr9:132326679

Conflicting classifications of pathogenicity

Inborn genetic diseases
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003374733 RCV003778089

NM_000454.5(SOD1):c.280G>A (p.Gly94Ser)

SNV
Germline

Chr21:31667298

Pathogenic

SOD1-related disorder
Amyotrophic lateral sclerosis type 1

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003408685 RCV003517499

NM_015046.7(SETX):c.3491G>A (p.Arg1164Gln)

SNV
Germline

Chr9:132328107

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
SETX-related disorder

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003778300 RCV004534197

NM_004960.4(FUS):c.1573C>T (p.Pro525Ser)

SNV
Unknown

Chr16:31191430

Likely pathogenic

Amyotrophic lateral sclerosis type 6

Criteria Provided
Single Submitter

1 SubmittersRCV003455847

NM_005235.3(ERBB4):c.625A>T (p.Thr209Ser)

SNV
Germline

Chr2:211725192

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 19
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003490749 RCV004364879

NM_000454.5(SOD1):c.34G>T (p.Asp12Tyr)

SNV
Germline

Chr21:31659803

Likely pathogenic

Amyotrophic lateral sclerosis type 1

Criteria Provided
Single Submitter

1 SubmittersRCV003486397

NM_000454.5(SOD1):c.304G>A (p.Asp102Asn)

SNV
Germline

Chr21:31667322

Pathogenic

Amyotrophic lateral sclerosis type 1

Criteria Provided
Single Submitter

1 SubmittersRCV003518824

NM_013254.4(TBK1):c.748C>T (p.Gln250Ter)

SNV
Germline

Chr12:64480058

Pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 4

Criteria Provided
Single Submitter

1 SubmittersRCV003590404

NM_013254.4(TBK1):c.1863-1G>A

SNV
Germline

Chr12:64497162

Likely pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 4

Criteria Provided
Single Submitter

1 SubmittersRCV003754704

NM_013254.4(TBK1):c.1960-2A>T

SNV
Germline

Chr12:64497646

Likely pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 4

Criteria Provided
Single Submitter

1 SubmittersRCV003754685

NM_000454.5(SOD1):c.68A>C (p.Gln23Pro)

SNV
Germline

Chr21:31659837

Likely pathogenic

Amyotrophic lateral sclerosis type 1

Criteria Provided
Single Submitter

1 SubmittersRCV003628666

NM_013254.4(TBK1):c.101T>G (p.Leu34Ter)

SNV
Germline

Chr12:64460202

Pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 4

Criteria Provided
Single Submitter

1 SubmittersRCV003753864

NM_007126.5(VCP):c.1696-3C>T

SNV
Germline

Chr9:35059804

Conflicting classifications of pathogenicity

Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
VCP-related disorder

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003782425 RCV004539134

NM_004960.4(FUS):c.1528A>G (p.Lys510Glu)

SNV
Germline

Chr16:31191097

Likely pathogenic

Amyotrophic lateral sclerosis type 6
Tremor, hereditary essential, 4

Criteria Provided
Single Submitter

1 SubmittersRCV003783685

NM_004960.4(FUS):c.1540A>G (p.Arg514Gly)

SNV
Germline

Chr16:31191109

Pathogenic

Amyotrophic lateral sclerosis type 6
Tremor, hereditary essential, 4

Criteria Provided
Single Submitter

1 SubmittersRCV003783686

NM_001008212.2(OPTN):c.241G>T (p.Glu81Ter)

SNV
Germline

Chr10:13110348

Pathogenic

Primary open angle glaucoma
Amyotrophic lateral sclerosis type 12
Glaucoma 1, open angle, E

Criteria Provided
Single Submitter

1 SubmittersRCV003787346

NM_003900.5(SQSTM1):c.206-2A>G

SNV
Germline

Chr5:179822956

Likely pathogenic

Paget disease of bone 2, early-onset
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1

Criteria Provided
Single Submitter

1 SubmittersRCV003792197

NM_001008212.2(OPTN):c.589C>A (p.His197Asn)

SNV
Germline

Chr10:13116303

Conflicting classifications of pathogenicity

Glaucoma 1, open angle, E
Primary open angle glaucoma
Amyotrophic lateral sclerosis type 12
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003803437 RCV004366637

NM_005866.4(SIGMAR1):c.374C>A (p.Ser125Ter)

SNV
Germline

Chr9:34637068

Pathogenic

Amyotrophic lateral sclerosis type 16
Autosomal recessive distal spinal muscular atrophy 2

Criteria Provided
Single Submitter

1 SubmittersRCV003800917

NM_003900.5(SQSTM1):c.1111C>T (p.Gln371Ter)

SNV
Germline

Chr5:179833728

Pathogenic

Paget disease of bone 2, early-onset
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1

Criteria Provided
Single Submitter

1 SubmittersRCV003800510

NM_003900.5(SQSTM1):c.973C>T (p.Gln325Ter)

SNV
Germline

Chr5:179833590

Pathogenic

Paget disease of bone 2, early-onset
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1

Criteria Provided
Single Submitter

1 SubmittersRCV003804675

NM_007126.5(VCP):c.283C>A (p.Arg95Ser)

SNV
Germline

Chr9:35067910

Likely pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia

Criteria Provided
Single Submitter

1 SubmittersRCV003813702

NM_001199397.3(NEK1):c.1804C>T (p.Gln602Ter)

SNV
Germline

Chr4:169508277

Likely pathogenic

Amyotrophic lateral sclerosis, susceptibility to, 24

Criteria Provided
Single Submitter

1 SubmittersRCV003885442

NM_000454.5(SOD1):c.449T>G (p.Ile150Ser)

SNV
Germline

Chr21:31668562

Likely pathogenic

Amyotrophic lateral sclerosis type 1

Criteria Provided
Single Submitter

1 SubmittersRCV003994640

NM_006262.4(PRPH):c.919C>T (p.Gln307Ter)

SNV
Germline

Chr12:49297196

Likely pathogenic

Amyotrophic lateral sclerosis type 1

Criteria Provided
Single Submitter

1 SubmittersRCV004547323

NM_001199397.3(NEK1):c.1414C>T (p.Arg472Ter)

SNV
Germline

Chr4:169555948

Likely pathogenic

Amyotrophic lateral sclerosis, susceptibility to, 24

Criteria Provided
Single Submitter

1 SubmittersRCV004577991