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.6100C>T (p.Arg2034Ter)	SNV Germline	Chr15:44573652	Pathogenic	Hereditary spastic paraplegia 11 Charcot-Marie-Tooth disease axonal type 2X Charcot-Marie-Tooth disease axonal type 2X Hereditary spastic paraplegia 11 Condition: not provided Inborn genetic diseases Charcot-Marie-Tooth disease axonal type 2X Hereditary spastic paraplegia 11 Amyotrophic lateral sclerosis type 5	Criteria Provided Multiple Submitters No Conflicts	CA249690	rs_118203963	14 SubmittersRCV000001168 RCV000202373 RCV000414837 RCV000518418 RCV002354145 RCV005007805
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 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA249693	rs_267607084	4 SubmittersRCV000001170 RCV000202382 RCV000193032 RCV005416315
NM_025137.4(SPG11):c.5623C>T (p.Gln1875Ter)	SNV Germline	Chr15:44584057	Pathogenic	Hereditary spastic paraplegia 11 Condition: not provided Inborn genetic diseases Amyotrophic lateral sclerosis type 5 Charcot-Marie-Tooth disease axonal type 2X Hereditary spastic paraplegia 11	Criteria Provided Multiple Submitters No Conflicts	CA339870	rs_141848292	14 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 Amyotrophic lateral sclerosis type 11 Charcot-Marie-Tooth disease type 4 Amyotrophic lateral sclerosis Charcot-Marie-Tooth disease type 4J Yunis-Varon syndrome Yunis-Varon syndrome Bilateral parasagittal parieto-occipital polymicrogyria Inborn genetic diseases FIG4-related disorder Bilateral parasagittal parieto-occipital polymicrogyria Amyotrophic lateral sclerosis type 11 Charcot-Marie-Tooth disease type 4J Yunis-Varon syndrome	Criteria Provided Multiple Submitters No Conflicts	CA233088	rs_121908287	40 SubmittersRCV000001791 RCV000143812 RCV000416487 RCV000476702 RCV001095515 RCV001535566 RCV001270162 RCV001330564 RCV002362551 RCV003952336 RCV005394105
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 Amyotrophic lateral sclerosis Charcot-Marie-Tooth disease type 4 FIG4-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA251931	rs_121908288	7 SubmittersRCV000001796 RCV000001793 RCV000235305 RCV001095516 RCV001046714 RCV003944790
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 Multiple Submitters No Conflicts	CA252185	rs_28941475	6 SubmittersRCV000002380 RCV000414273 RCV000789614
NM_015046.7(SETX):c.6407G>A (p.Arg2136His)	SNV Germline	Chr9:132283403	Likely pathogenic	Amyotrophic lateral sclerosis type 4 Distal spinal muscular atrophy Condition: not provided	Criteria Provided Single Submitter	CA252187	rs_121434378	4 SubmittersRCV000002381 RCV000789616 RCV005051731
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 Amyotrophic lateral sclerosis type 8 Adult-onset proximal spinal muscular atrophy, autosomal dominant Adult-onset proximal spinal muscular atrophy, autosomal dominant	Criteria Provided Multiple Submitters No Conflicts	CA117096	rs_74315431	7 SubmittersRCV000005073 RCV000059635 RCV002254542 RCV002254541
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 Amyotrophic lateral sclerosis type 10 FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED 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 Amyotrophic lateral sclerosis type 10 FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED TARDBP-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA340375	rs_4884357	6 SubmittersRCV000005543 RCV000713825 RCV001851670 RCV004754243
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 Amyotrophic lateral sclerosis type 10 FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED	Criteria Provided Multiple Submitters No Conflicts	CA340379	rs_80356733	7 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 Amyotrophic lateral sclerosis type 10 FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA340381	rs_80356726	6 SubmittersRCV000005547 RCV001384596 RCV004546411
NM_001378743.1(CYLD):c.2806C>T (p.Arg936Ter)	SNV Germline	Chr16:50796443	Pathogenic	Familial cylindromatosis Familial multiple trichoepitheliomata Brooke-Spiegler syndrome Familial cylindromatosis Brooke-Spiegler syndrome Trichoepithelioma, multiple familial, 1 Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA214928	rs_121908390	5 SubmittersRCV000005573 RCV000005574 RCV000005575 RCV002496269 RCV005089180
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 Glaucoma 1, open angle, E Primary open angle glaucoma not specified Condition: not provided Amyotrophic lateral sclerosis type 12 OPTN-related disorder	Criteria Provided Conflicting Classifications	CA118630	rs_75654767	9 SubmittersRCV000007515 RCV000356568 RCV000559186 RCV001289042 RCV001610287 RCV000301689 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 Condition: not provided Paget disease of bone 3 Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 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 Bone Paget disease	Criteria Provided Conflicting Classifications	CA203866	rs_104893941	15 SubmittersRCV000008576 RCV000184063 RCV000490214 RCV000477939 RCV000824803 RCV002508916 RCV001084507 RCV005249984
NM_003900.5(SQSTM1):c.1165+1G>A	SNV Germline	Chr5:179833783	Pathogenic	Paget disease of bone 3 Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 Paget disease of bone 2, early-onset 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 Hereditary motor neuron disease Perry syndrome Neuronopathy, distal hereditary motor, type 7B Amyotrophic lateral sclerosis type 1 Perry syndrome	Criteria Provided Single Submitter	CA340781	rs_121909342	4 SubmittersRCV000008909 RCV000789086 RCV000644484 RCV003447080
NM_004082.5(DCTN1):c.2353C>T (p.Arg785Trp)	SNV Germline	Chr2:74366896	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis, susceptibility to Perry syndrome Neuronopathy, distal hereditary motor, type 7B Amyotrophic lateral sclerosis type 1 Condition: not provided Charcot-Marie-Tooth disease Amyotrophic lateral sclerosis type 1 Neuronopathy, distal hereditary motor, type 7B Perry syndrome Inborn genetic diseases DCTN1-related disorder	Criteria Provided Conflicting Classifications	CA119587	rs_121909344	13 SubmittersRCV000008912 RCV000644476 RCV001572734 RCV000144867 RCV000986781 RCV001140673 RCV001140674 RCV002444424 RCV003952351
NM_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	12 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	8 SubmittersRCV000008990 RCV000372207 RCV000685660 RCV001095424
NM_007126.5(VCP):c.283C>G (p.Arg95Gly)	SNV Germline	Chr9:35067910	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	Criteria Provided Single Submitter	CA254402	rs_121909332	2 SubmittersRCV000008992 RCV005222674
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 Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia 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 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 Charcot-Marie-Tooth disease type 2Y Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA254406	rs_121909334	13 SubmittersRCV000008994 RCV000023064 RCV000555373 RCV002496309 RCV000516636
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	14 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	5 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	8 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 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA257321	rs_121912440	4 SubmittersRCV000015879 RCV003390685 RCV004791222
NM_000454.5(SOD1):c.256G>C (p.Gly86Arg)	SNV Germline	Chr21:31667274	Pathogenic	Amyotrophic lateral sclerosis type 1 SOD1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA257323	rs_121912436	4 SubmittersRCV000015880 RCV004745157
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	Amyotrophic lateral sclerosis type 1 Condition: not provided Amyotrophic lateral sclerosis SOD1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA257335	rs_121912443	7 SubmittersRCV000015886 RCV000281824 RCV001843454 RCV004745158
NM_000454.5(SOD1):c.13G>A (p.Ala5Thr)	SNV Germline	Chr21:31659782	Pathogenic	Amyotrophic lateral sclerosis type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA257337	rs_121912444	4 SubmittersRCV000015887 RCV000518527
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 not specified	Criteria Provided Conflicting Classifications	CA124296	rs_80265967	20 SubmittersRCV000015888 RCV000015889 RCV000713399 RCV001843455 RCV003415711 RCV005434603
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	Amyotrophic lateral sclerosis type 1 Condition: not provided SOD1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA257339	rs_121912446	8 SubmittersRCV000015891 RCV000516860 RCV004745159
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	Pathogenic/Likely pathogenic	Amyotrophic lateral sclerosis type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA637247607	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	CA9998975	rs_369600566	1 SubmittersRCV000015901
NM_000454.5(SOD1):c.37G>C (p.Gly13Arg)	SNV Germline	Chr21:31659806	Likely pathogenic	Amyotrophic lateral sclerosis type 1	Criteria Provided Multiple Submitters No Conflicts	CA257360	rs_121912456	3 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	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 Amyotrophic lateral sclerosis type 6 Tremor, hereditary essential, 4 Condition: not provided FUS-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA257437	rs_121909668	5 SubmittersRCV000017609 RCV000703284 RCV002472932 RCV003421921
NM_004960.4(FUS):c.1553G>A (p.Arg518Lys)	SNV Germline	Chr16:31191410	Pathogenic	Amyotrophic lateral sclerosis type 6 Tremor, hereditary essential, 4 Amyotrophic lateral sclerosis type 6	Criteria Provided Single Submitter	CA257439	rs_121909669	2 SubmittersRCV000017610 RCV005222688
NM_004960.4(FUS):c.1561C>T (p.Arg521Cys)	SNV Germline	Chr16:31191418	Pathogenic	Amyotrophic lateral sclerosis type 6 Amyotrophic lateral sclerosis type 6 Tremor, hereditary essential, 4 Condition: not provided FUS-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA257441	rs_121909668	8 SubmittersRCV000017611 RCV001851894 RCV001701569 RCV004745160
NM_004960.4(FUS):c.1562G>A (p.Arg521His)	SNV Germline	Chr16:31191419	Pathogenic	Amyotrophic lateral sclerosis type 6 Amyotrophic lateral sclerosis type 6 Tremor, hereditary essential, 4 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA257443	rs_121909671	5 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 Amyotrophic lateral sclerosis type 6 Tremor, hereditary essential, 4 FUS-related disorder not specified	Criteria Provided Conflicting Classifications	CA130062	rs_267606832	5 SubmittersRCV000017614 RCV000030719 RCV001588814 RCV002513082 RCV004745162 RCV002247351
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	FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED Amyotrophic lateral sclerosis type 10	Criteria Provided Single Submitter	CA17876327	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 Amyotrophic lateral sclerosis type 10 FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED TARDBP-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA17876354	rs_80356734	9 SubmittersRCV000020657 RCV000993301 RCV001851975 RCV004754269
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 Amyotrophic lateral sclerosis type 10 FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED 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	Amyotrophic lateral sclerosis type 10 Condition: not provided Amyotrophic lateral sclerosis type 10 FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED See cases TARDBP-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA586493	rs_80356740	12 SubmittersRCV000995885 RCV001579671 RCV001851976 RCV002251918 RCV004754270
NM_007375.4(TARDBP):c.1168A>G (p.Asn390Asp)	SNV Germline	Chr1:11022577	Conflicting classifications of pathogenicity	Condition: not provided TARDBP-related disorder FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED Amyotrophic lateral sclerosis type 10	Criteria Provided Conflicting Classifications	CA586494	rs_80356741	3 SubmittersRCV001570554 RCV003407351 RCV003764614
NM_007375.4(TARDBP):c.1169A>G (p.Asn390Ser)	SNV Germline	Chr1:11022578	Conflicting classifications of pathogenicity	Condition: not provided Amyotrophic lateral sclerosis type 10 FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA586495	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 Amyotrophic lateral sclerosis type 10 FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED Condition: not provided Inborn genetic diseases TARDBP-related disorder Parkinsonian disorder	Criteria Provided Conflicting Classifications	CA586343	rs_80356715	9 SubmittersRCV000020670 RCV000821536 RCV001311624 RCV002426513 RCV003924849 RCV005624702
NM_007375.4(TARDBP):c.800A>G (p.Asn267Ser)	SNV Germline	Chr1:11022209	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 10 Amyotrophic lateral sclerosis type 10 FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED Inborn genetic diseases TARDBP-related disorder Condition: not provided FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED	Criteria Provided Conflicting Classifications	CA586454	rs_80356718	8 SubmittersRCV000020671 RCV001851977 RCV003242964 RCV003904854 RCV004546414 RCV004821261
NM_007375.4(TARDBP):c.859G>A (p.Gly287Ser)	SNV Germline	Chr1:11022268	Pathogenic/Likely pathogenic	Amyotrophic lateral sclerosis type 10 Condition: not provided Amyotrophic lateral sclerosis type 10 FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED Motor neuron disease TARDBP-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA586459	rs_80356719	7 SubmittersRCV000020672 RCV000412864 RCV000529539 RCV000492328 RCV004754271
NM_007375.4(TARDBP):c.883G>A (p.Gly295Ser)	SNV Germline	Chr1:11022292	Pathogenic	Amyotrophic lateral sclerosis type 10 Amyotrophic lateral sclerosis type 10 FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED	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 FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED Amyotrophic lateral sclerosis type 10	Criteria Provided Conflicting Classifications	CA17876173	rs_80356723	2 SubmittersRCV002474373 RCV002569399
NM_007375.4(TARDBP):c.931A>G (p.Met311Val)	SNV Germline	Chr1:11022340	Likely pathogenic	FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED Amyotrophic lateral sclerosis type 10 Condition: not provided Amyotrophic lateral sclerosis type 10 TARDBP-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA17876210	rs_80356725	4 SubmittersRCV000694078 RCV003311663 RCV003334377 RCV004754273
NM_015046.7(SETX):c.3880C>T (p.Arg1294Cys)	SNV Germline	Chr9:132327718	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease Condition: not provided Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	Criteria Provided Conflicting Classifications	CA027386	rs_267607044	3 SubmittersRCV000790202 RCV001755758 RCV005222984
NM_004960.4(FUS):c.1483C>T (p.Arg495Ter)	SNV Germline	Chr16:31191052	Pathogenic	Amyotrophic lateral sclerosis type 6 Tremor, hereditary essential, 4 Amyotrophic lateral sclerosis type 6 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA259631	rs_387906627	4 SubmittersRCV000022556 RCV003764624 RCV002247377
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	Criteria Provided Single Submitter	CA259707	rs_387906711	2 SubmittersRCV000022844
NM_013444.4(UBQLN2):c.1573C>T (p.Pro525Ser)	SNV Germline	ChrX:56565446	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 15 UBQLN2-related disorder Amyotrophic lateral sclerosis Condition: not provided	Criteria Provided Conflicting Classifications	CA259711	rs_369947678	8 SubmittersRCV000022846 RCV003944836 RCV000625776 RCV003441723
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 Inborn genetic diseases Amyotrophic lateral sclerosis type 16 Autosomal recessive distal spinal muscular atrophy 2	Criteria Provided Multiple Submitters No Conflicts	CA259767	rs_387906829	3 SubmittersRCV000023162 RCV002444439 RCV001852015
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	Condition: not provided PFN1-related disorder Amyotrophic lateral sclerosis type 18	Criteria Provided Single Submitter	CA260576	rs_387907265	3 SubmittersRCV001852610 RCV004755752 RCV000030695
NM_005022.4(PFN1):c.353G>T (p.Gly118Val)	SNV Germline	Chr17:4945970	Pathogenic	Amyotrophic lateral sclerosis type 18 Condition: not provided	Criteria Provided Single Submitter	CA260577	rs_387907266	2 SubmittersRCV000030696 RCV005089324
NM_005022.4(PFN1):c.350A>G (p.Glu117Gly)	SNV Germline	Chr17:4945973	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 18 not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA260578	rs_140547520	4 SubmittersRCV000030697 RCV002247400 RCV005243103
NM_004960.4(FUS):c.1292C>T (p.Pro431Leu)	SNV Germline	Chr16:31190398	Conflicting classifications of pathogenicity	Tremor, hereditary essential, 4 Condition: not provided Tremor, hereditary essential, 4 Amyotrophic lateral sclerosis type 6 Frontotemporal dementia Inborn genetic diseases Amyotrophic lateral sclerosis FUS-related disorder	Criteria Provided Conflicting Classifications	CA130060	rs_186547381	9 SubmittersRCV000030718 RCV000711709 RCV000765290 RCV001847624 RCV002381274 RCV003993752 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.1235C>G (p.Ser412Ter)	SNV Germline	Chr15:44651712	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 11 Amyotrophic lateral sclerosis type 5 Hereditary spastic paraplegia 11 Charcot-Marie-Tooth disease axonal type 2X	Criteria Provided Multiple Submitters No Conflicts	CA344293	rs_312262723	7 SubmittersRCV000034170 RCV005007926
NM_025137.4(SPG11):c.1457-2A>G	SNV Germline	Chr15:44649013	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 11 Hereditary spastic paraplegia Amyotrophic lateral sclerosis type 5 Hereditary spastic paraplegia 11 Charcot-Marie-Tooth disease axonal type 2X	Criteria Provided Multiple Submitters No Conflicts	CA344297	rs_312262726	5 SubmittersRCV000034173 RCV001847631 RCV005007927
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 Hereditary spastic paraplegia 11 Amyotrophic lateral sclerosis type 5 Charcot-Marie-Tooth disease axonal type 2X	Criteria Provided Multiple Submitters No Conflicts	CA277361	rs_312262709	10 SubmittersRCV000034195 RCV000194703 RCV001569808 RCV003883485 RCV005007929
NM_025137.4(SPG11):c.2833A>G (p.Arg945Gly)	SNV Germline	Chr15:44620191	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 11 Amyotrophic lateral sclerosis type 5 Hereditary spastic paraplegia 11 Charcot-Marie-Tooth disease axonal type 2X	Criteria Provided Multiple Submitters No Conflicts	CA344327	rs_312262748	3 SubmittersRCV000034199 RCV005007931
NM_025137.4(SPG11):c.2834+1G>T	SNV Germline	Chr15:44620189	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 11 Charcot-Marie-Tooth disease axonal type 2X Hereditary spastic paraplegia 11 Amyotrophic lateral sclerosis type 5 Condition: not provided Amyotrophic lateral sclerosis type 5	Criteria Provided Multiple Submitters No Conflicts	CA344329	rs_312262749	8 SubmittersRCV000034200 RCV005007932 RCV001836722 RCV003458191
NM_025137.4(SPG11):c.5974C>T (p.Arg1992Ter)	SNV Germline	Chr15:44574934	Pathogenic	Condition: not provided Amyotrophic lateral sclerosis type 5 Hereditary spastic paraplegia 11	Criteria Provided Multiple Submitters No Conflicts	CA277266	rs_200793464	4 SubmittersRCV000255514 RCV000194146 RCV000034234
NM_025137.4(SPG11):c.5977C>T (p.Gln1993Ter)	SNV Germline	Chr15:44574931	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 11 Condition: not provided Amyotrophic lateral sclerosis type 5 Hereditary spastic paraplegia 11 Charcot-Marie-Tooth disease axonal type 2X	Criteria Provided Multiple Submitters No Conflicts	CA344365	rs_312262774	3 SubmittersRCV000034235 RCV005600627 RCV005007933
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 SPG11-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA344370	rs_147713329	12 SubmittersRCV000034241 RCV001331384 RCV001092496 RCV001847636 RCV005229845
NM_025137.4(SPG11):c.6157G>A (p.Val2053Met)	SNV Germline	Chr15:44573595	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 11 Condition: not provided Charcot-Marie-Tooth disease axonal type 2X Amyotrophic lateral sclerosis type 5 Hereditary spastic paraplegia 11 Charcot-Marie-Tooth disease axonal type 2X Amyotrophic lateral sclerosis type 5	Criteria Provided Conflicting Classifications	CA344372	rs_149003934	7 SubmittersRCV000034242 RCV000594035 RCV002467534 RCV002477051 RCV002467533
NM_025137.4(SPG11):c.6477+4A>G	SNV Germline	Chr15:44570521	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia Hereditary spastic paraplegia 11 Charcot-Marie-Tooth disease axonal type 2X Amyotrophic lateral sclerosis type 5	Criteria Provided Conflicting Classifications	CA344377	rs_312262780	6 SubmittersRCV001847637 RCV000034246 RCV002467536 RCV002467535
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val)	SNV Germline	Chr16:89546737	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 7 Condition: not provided Spastic Paraplegia, Recessive Hereditary spastic paraplegia Inborn genetic diseases Gait ataxia Cerebral cortical atrophy Dysarthria Spastic paraparesis Optic nerve hypoplasia Intellectual disability Spastic ataxia Sensorimotor neuropathy Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 SPG7-related disorder Retinal dystrophy Hereditary ataxia	Criteria Provided Conflicting Classifications	CA090884	rs_61755320	65 SubmittersRCV000034858 RCV000195683 RCV000270813 RCV000515835 RCV000623796 RCV000626837 RCV000677252 RCV000850200 RCV001003619 RCV002463623 RCV003421943 RCV004814935 RCV005624722
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 Amyotrophic lateral sclerosis type 10 GRN-related frontotemporal lobar degeneration with Tdp43 inclusions	Criteria Provided Multiple Submitters No Conflicts	CA225327	rs_63751180	10 SubmittersRCV000084480 RCV001390599 RCV002463638 RCV000995559
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	Infantile-onset ascending hereditary spastic paralysis Condition: not provided Amyotrophic lateral sclerosis type 2, juvenile	Criteria Provided Multiple Submitters No Conflicts	CA236114	rs_587777132	3 SubmittersRCV000087053 RCV000171328 RCV001095478
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	6 SubmittersRCV000128857 RCV000192232 RCV001268565
NM_015046.7(SETX):c.1504C>T (p.Arg502Trp)	SNV Germline	Chr9:132330094	Conflicting classifications of pathogenicity	Condition: not provided Charcot-Marie-Tooth disease 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	CA233090	rs_534723946	8 SubmittersRCV000143813 RCV000790203 RCV000791025 RCV001523409 RCV000626102
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	8 SubmittersRCV000143814 RCV000794428 RCV002408640 RCV004544322
NM_015046.7(SETX):c.3968G>A (p.Arg1323Gln)	SNV Germline	Chr9:132327630	Conflicting classifications of pathogenicity	Condition: not provided not specified Inborn genetic diseases SETX-related disorder 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	CA233096	rs_369542231	7 SubmittersRCV000143815 RCV000517014 RCV002371981 RCV004532620 RCV003233112 RCV003233113 RCV005213210
NM_015046.7(SETX):c.4225A>T (p.Asn1409Tyr)	SNV Germline	Chr9:132327373	Conflicting classifications of pathogenicity	Condition: not provided not specified Charcot-Marie-Tooth disease 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 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA233099	rs_373375060	9 SubmittersRCV000143816 RCV001002069 RCV000790204 RCV000988270 RCV001167322 RCV001041860 RCV004532621 RCV002326848
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 Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Inborn genetic diseases not specified	Criteria Provided Conflicting Classifications	CA233102	rs_534886444	11 SubmittersRCV000143817 RCV000790205 RCV000988269 RCV001049421 RCV002326849 RCV005406843
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 Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA233108	rs_151117904	14 SubmittersRCV000143819 RCV000251546 RCV000302102 RCV000393538 RCV001080640 RCV001260210 RCV001847770
NM_015046.7(SETX):c.3809C>T (p.Pro1270Leu)	SNV Germline	Chr9:132327789	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 SETX-related disorder	Criteria Provided Conflicting Classifications	CA048312	rs_144334281	11 SubmittersRCV000329054 RCV000385882 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.1147G>A (p.Ala383Thr)	SNV Germline	Chr2:219250552	Likely pathogenic	Amyotrophic lateral sclerosis type 22	Criteria Provided Single Submitter	CA185904	rs_368743618	2 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/Likely 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	5 SubmittersRCV000157069 RCV001731147 RCV000804540 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 FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED	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	5 SubmittersRCV000171347 RCV000514140 RCV002254543
NM_025137.4(SPG11):c.3037A>G (p.Lys1013Glu)	SNV Germline	Chr15:44615364	Conflicting classifications of pathogenicity	not specified Amyotrophic lateral sclerosis Condition: not provided Hereditary spastic paraplegia 11 Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA201295	rs_111347025	14 SubmittersRCV000175101 RCV001260215 RCV002262769 RCV000204165 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 Spastic tetraplegia and axial hypotonia, progressive	Criteria Provided Multiple Submitters No Conflicts	CA275244	rs_121912441	14 SubmittersRCV000178103 RCV000255754 RCV000492500 RCV003398894 RCV004767120
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 Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 Paget disease of bone 2, early-onset SQSTM1-related disorder	Criteria Provided Conflicting Classifications	CA203868	rs_776749939	4 SubmittersRCV000184065 RCV000481808 RCV001323701 RCV004734809
NM_025137.4(SPG11):c.1270C>A (p.Pro424Thr)	SNV Germline	Chr15:44651677	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 11 Condition: not provided Amyotrophic lateral sclerosis type 5 Charcot-Marie-Tooth disease axonal type 2X Hereditary spastic paraplegia Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA275497	rs_141596008	7 SubmittersRCV000185539 RCV001508762 RCV002467649 RCV002467650 RCV001847822 RCV002372141
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	Criteria Provided Single Submitter	CA6669037	rs_767898276	2 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 Condition: not provided Lower motor neuron syndrome with late-adult onset Amyotrophic lateral sclerosis Inborn genetic diseases CHCHD10-related disorder	Criteria Provided Conflicting Classifications	CA347297	rs_775332895	8 SubmittersRCV000192233 RCV000558062 RCV001092755 RCV000990378 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 Amyotrophic lateral sclerosis, susceptibility to, 24 Short-rib thoracic dysplasia 6 with or without polydactyly NEK1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA210638	rs_199947197	13 SubmittersRCV000190609 RCV000585742 RCV000519626 RCV000763117 RCV003947589
NM_003384.3(VRK1):c.961C>T (p.Arg321Cys)	SNV Germline	Chr14:96860628	Pathogenic/Likely pathogenic	Pontocerebellar hypoplasia type 1A Condition: not provided Juvenile amyotrophic lateral sclerosis Pontocerebellar hypoplasia type 1A Neuronopathy, distal hereditary motor, autosomal recessive 10	Criteria Provided Multiple Submitters No Conflicts	CA250406	rs_772731615	6 SubmittersRCV000191144 RCV001705076 RCV001095537 RCV005008124
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 Inborn genetic diseases Hereditary spastic paraplegia Hereditary spastic paraplegia 11 Charcot-Marie-Tooth disease axonal type 2X Amyotrophic lateral sclerosis type 5 Condition: not provided	Criteria Provided Conflicting Classifications	CA337736	rs_150571352	9 SubmittersRCV000198221 RCV000609376 RCV001252105 RCV001331387 RCV002363018 RCV001847903 RCV005008134 RCV004696869
NM_025137.4(SPG11):c.16G>A (p.Gly6Arg)	SNV Germline	Chr15:44663632	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis Amyotrophic lateral sclerosis type 5 Hereditary spastic paraplegia 11 Condition: not provided Hereditary spastic paraplegia SPG11-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA337596	rs_200573434	11 SubmittersRCV001260214 RCV001336692 RCV001086819 RCV000713414 RCV001847902 RCV003917821 RCV002399751
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	CA056518	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	not specified Hereditary spastic paraplegia 11 Amyotrophic lateral sclerosis Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA350373	rs_79708848	11 SubmittersRCV000444113 RCV000206327 RCV001260213 RCV001847925
NM_025137.4(SPG11):c.6759C>G (p.Asp2253Glu)	SNV Germline	Chr15:44566301	Conflicting classifications of pathogenicity	Condition: not provided Hereditary spastic paraplegia 11 Amyotrophic lateral sclerosis Hereditary spastic paraplegia Inborn genetic diseases SPG11-related disorder	Criteria Provided Conflicting Classifications	CA7534007	rs_141818132	11 SubmittersRCV000224214 RCV001085256 RCV001260212 RCV001847948 RCV002365166 RCV003919902
NM_025137.4(SPG11):c.1621C>T (p.Gln541Ter)	SNV Germline	Chr15:44633619	Pathogenic/Likely pathogenic	Charcot-Marie-Tooth disease axonal type 2X Hereditary spastic paraplegia 11 Condition: not provided Amyotrophic lateral sclerosis type 5 Hereditary spastic paraplegia 11 Charcot-Marie-Tooth disease axonal type 2X	Criteria Provided Multiple Submitters No Conflicts	CA7535486	rs_765061840	6 SubmittersRCV000224985 RCV000757917 RCV001565198 RCV005008177
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 Infantile-onset ascending hereditary spastic paralysis Amyotrophic lateral sclerosis type 2, juvenile ALS2-related disorder Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA2058513	rs_190369242	8 SubmittersRCV000512695 RCV000516346 RCV000764355 RCV001082210 RCV001139424 RCV001137184 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 Charcot-Marie-Tooth disease axonal type 2X Amyotrophic lateral sclerosis type 5 not specified	Criteria Provided Conflicting Classifications	CA7535513	rs_201535432	4 SubmittersRCV000230118 RCV002261019 RCV002467687 RCV002467686 RCV005238771
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 Neuropathy, hereditary sensory and autonomic, type 1A	Criteria Provided Multiple Submitters No Conflicts	CA10584304	rs_879254294	3 SubmittersRCV000236861 RCV003223342 RCV004594033
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 3 Condition: not provided Inborn genetic diseases not specified Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 Paget disease of bone 2, early-onset	Criteria Provided Conflicting Classifications	CA3600374	rs_200396166	6 SubmittersRCV000184066 RCV001155398 RCV001636735 RCV002518539 RCV003387820 RCV000652548
NM_020919.4(ALS2):c.1816-8C>T	SNV Germline	Chr2:201746756	Conflicting classifications of pathogenicity	not specified Amyotrophic lateral sclerosis type 2, juvenile Condition: not provided Infantile-onset ascending hereditary spastic paralysis ALS2-related disorder Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA2058339	rs_185911369	10 SubmittersRCV000251509 RCV000349374 RCV000710520 RCV001087893 RCV000400905 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 TIA1-related disorder Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia	Criteria Provided Conflicting Classifications	CA1697407	rs_116621885	7 SubmittersRCV000250393 RCV000516506 RCV000859341 RCV003891965 RCV003989508
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 Paget disease of bone 2, early-onset Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 Paget disease of bone 2, early-onset Condition: not provided Paget disease of bone 3	Criteria Provided Conflicting Classifications	CA3600727	rs_139482113	10 SubmittersRCV000242491 RCV000625252 RCV000535702 RCV001576573 RCV001154682
NM_014845.6(FIG4):c.1584-8T>A	SNV Germline	Chr6:109766721	Conflicting classifications of pathogenicity	not specified Amyotrophic lateral sclerosis type 11 Condition: not provided Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease type 4J	Criteria Provided Conflicting Classifications	CA3956144	rs_199522051	8 SubmittersRCV000254421 RCV000275273 RCV000711651 RCV001173270 RCV000470402 RCV001094996
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 Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Inborn genetic diseases Condition: not provided Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA5297423	rs_142020270	12 SubmittersRCV000252372 RCV001085624 RCV002321932 RCV001311796 RCV001848032
NM_015046.7(SETX):c.2975A>G (p.Lys992Arg)	SNV Germline	Chr9:132328623	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 Hereditary spastic paraplegia Spastic paraplegia Condition: not provided	Criteria Provided Conflicting Classifications	CA5297507	rs_61742937	14 SubmittersRCV000250229 RCV000541126 RCV001168778 RCV000387370 RCV001848031 RCV001391479 RCV001706351
NM_001008212.2(OPTN):c.489A>G (p.Glu163=)	SNV Germline	Chr10:13112572	Conflicting classifications of pathogenicity	not specified Amyotrophic lateral sclerosis type 12 Primary open angle glaucoma Primary open angle glaucoma Glaucoma 1, open angle, E Amyotrophic lateral sclerosis type 12 Condition: not provided	Criteria Provided Conflicting Classifications	CA5410636	rs_113811959	9 SubmittersRCV000249241 RCV000365950 RCV000311095 RCV001079510 RCV000635241
NM_013444.4(UBQLN2):c.1461C>A (p.Thr487=)	SNV Germline	ChrX:56565334	Conflicting classifications of pathogenicity	not specified Condition: not provided Amyotrophic Lateral Sclerosis, Dominant Amyotrophic lateral sclerosis type 15	Criteria Provided Conflicting Classifications	CA10430171	rs_45559331	10 SubmittersRCV000241665 RCV000547371 RCV000399814 RCV001079580
NM_003900.5(SQSTM1):c.286C>T (p.Arg96Ter)	SNV Germline	Chr5:179823038	Pathogenic	Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset Paget disease of bone 2, early-onset Frontotemporal dementia and/or amyotrophic lateral sclerosis 1	Criteria Provided Multiple Submitters No Conflicts	CA10588825	rs_886039782	4 SubmittersRCV000256198 RCV001062487
NM_001199397.3(NEK1):c.1789T>A (p.Phe597Ile)	SNV Germline	Chr4:169508292	Conflicting classifications of pathogenicity	Condition: not provided Motor neuron disease Short-rib thoracic dysplasia 6 with or without polydactyly Amyotrophic lateral sclerosis, susceptibility to, 24	Criteria Provided Conflicting Classifications	CA3137633	rs_776098853	4 SubmittersRCV000321359 RCV000492300 RCV003635907 RCV005409642
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 not specified	Criteria Provided Conflicting Classifications	CA3137845	rs_372585344	8 SubmittersRCV000280217 RCV000492702 RCV000659005 RCV002518774 RCV003409388 RCV005434754
NM_001008212.2(OPTN):c.941A>T (p.Gln314Leu)	SNV Germline	Chr10:13124053	Conflicting classifications of pathogenicity	Motor neuron disease Primary open angle glaucoma Glaucoma 1, open angle, E Amyotrophic lateral sclerosis type 12 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5410811	rs_142812715	5 SubmittersRCV000492386 RCV000557693 RCV002059063 RCV002374436
NM_001008212.2(OPTN):c.1403T>G (p.Met468Arg)	SNV Germline	Chr10:13132068	Conflicting classifications of pathogenicity	Motor neuron disease Primary open angle glaucoma Amyotrophic lateral sclerosis type 12 Glaucoma 1, open angle, E	Criteria Provided Conflicting Classifications	CA203270133	rs_747481280	2 SubmittersRCV000492219 RCV005222861
NM_013254.4(TBK1):c.452C>T (p.Ser151Phe)	SNV Germline	Chr12:64466994	Conflicting classifications of pathogenicity	TBK1-related disorder not specified Motor neuron disease Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 Autoinflammation with arthritis and vasculitis Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	Criteria Provided Conflicting Classifications	CA6668820	rs_55824172	5 SubmittersRCV004745316 RCV005238811 RCV000492091 RCV005396861 RCV001855019
NM_013254.4(TBK1):c.829C>G (p.Leu277Val)	SNV Germline	Chr12:64481858	Conflicting classifications of pathogenicity	Motor neuron disease Condition: not provided Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	Criteria Provided Conflicting Classifications	CA238264724	rs_905184241	3 SubmittersRCV000492371 RCV000520272 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 Trichoepithelioma, multiple familial, 1 Familial cylindromatosis Brooke-Spiegler syndrome Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 Trichoepithelioma, multiple familial, 1 Familial cylindromatosis Brooke-Spiegler syndrome Frontotemporal dementia and/or amyotrophic lateral sclerosis 8	Criteria Provided Multiple Submitters No Conflicts	CA10590069	rs_886040872	6 SubmittersRCV000257976 RCV000760471 RCV001814137 RCV005016661 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 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	CA5039453	rs_387906789	6 SubmittersRCV000333881 RCV002229732 RCV001095425
NM_015046.7(SETX):c.4816C>T (p.Arg1606Ter)	SNV Germline	Chr9:132326782	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	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 Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia VCP-related disorder Spastic paraplegia Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10603200	rs_121909332	10 SubmittersRCV000280148 RCV000761344 RCV001095441 RCV004556775 RCV001215048 RCV004734912 RCV001391611 RCV002436094
NM_004960.4(FUS):c.1574C>T (p.Pro525Leu)	SNV Germline	Chr16:31191431	Pathogenic	Tremor, hereditary essential, 4 Amyotrophic lateral sclerosis type 6 Juvenile amyotrophic lateral sclerosis Condition: not provided FUS-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA10603390	rs_886041390	7 SubmittersRCV001069729 RCV001095439 RCV000381069 RCV003401225
NM_004082.5(DCTN1):c.414+1G>A	SNV Germline	Chr2:74376741	Conflicting classifications of pathogenicity	Condition: not provided Perry syndrome Amyotrophic lateral sclerosis type 1 Neuronopathy, distal hereditary motor, type 7B See cases Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1722488	rs_576198476	5 SubmittersRCV000332896 RCV000765701 RCV002252080 RCV002328763
NM_001199397.3(NEK1):c.2361G>A (p.Lys787=)	SNV Germline	Chr4:169477197	Conflicting classifications of pathogenicity	Condition: not provided Amyotrophic lateral sclerosis, susceptibility to, 24 Short-rib thoracic dysplasia 6 with or without polydactyly Short-rib thoracic dysplasia 6 with or without polydactyly	Criteria Provided Conflicting Classifications	CA10604270	rs_886042457	3 SubmittersRCV000348892 RCV002494827 RCV005090343
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 VCP-related disorder not specified Inborn genetic diseases 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 Conflicting Classifications	CA5039215	rs_147623367	13 SubmittersRCV000321351 RCV001168925 RCV004535294 RCV001580089 RCV002401981 RCV001081085 RCV001168167
NM_025137.4(SPG11):c.316G>A (p.Ala106Thr)	SNV Germline	Chr15:44660558	Conflicting classifications of pathogenicity	Condition: not provided Hereditary spastic paraplegia 11 Amyotrophic lateral sclerosis type 5 Charcot-Marie-Tooth disease axonal type 2X Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7535871	rs_201842512	6 SubmittersRCV000296854 RCV000692595 RCV002467713 RCV002467714 RCV002321952
NM_007126.5(VCP):c.*4G>T	SNV Germline	Chr9:35057113	Conflicting classifications of pathogenicity	not specified Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 Condition: not provided Intellectual disability	Criteria Provided Conflicting Classifications	CA5039057	rs_201091341	9 SubmittersRCV000301970 RCV000291446 RCV000376145 RCV001559813 RCV001252622
NM_025137.4(SPG11):c.979C>G (p.Leu327Val)	SNV Germline	Chr15:44652157	Conflicting classifications of pathogenicity	Condition: not provided Hereditary spastic paraplegia 11 Charcot-Marie-Tooth disease axonal type 2X not specified Inborn genetic diseases Amyotrophic lateral sclerosis type 5	Criteria Provided Conflicting Classifications	CA7535662	rs_146109825	6 SubmittersRCV000259263 RCV000811912 RCV002467716 RCV004586659 RCV002379128 RCV002467715
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	5 SubmittersRCV000321789 RCV001222571 RCV002519195
NM_015046.7(SETX):c.1880T>C (p.Met627Thr)	SNV Germline	Chr9:132329718	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 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	Amyotrophic lateral sclerosis type 2, juvenile ALS2-related disorder Infantile-onset ascending hereditary spastic paralysis ALS2-related motor neuron disease Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA2058054	rs_375742430	4 SubmittersRCV000361538 RCV000316456 RCV000703570 RCV005355653 RCV001848676
NM_020919.4(ALS2):c.2479A>T (p.Thr827Ser)	SNV Germline	Chr2:201733377	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 2, juvenile Peripheral axonal neuropathy Infantile-onset ascending hereditary spastic paralysis not specified Condition: not provided Hereditary spastic paraplegia ALS2-related disorder Tip-toe gait	Criteria Provided Conflicting Classifications	CA2058171	rs_202219507	9 SubmittersRCV000328276 RCV000414980 RCV000813075 RCV001289224 RCV001580056 RCV001848678 RCV000382737 RCV001358657
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 Amyotrophic lateral sclerosis Infantile-onset ascending hereditary spastic paralysis Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA2057955	rs_200706696	6 SubmittersRCV000261194 RCV000355910 RCV000515815 RCV001260560 RCV000863616 RCV001590976 RCV004999329
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 Condition: not provided Infantile-onset ascending hereditary spastic paralysis not specified	Criteria Provided Conflicting Classifications	CA2057570	rs_200202953	5 SubmittersRCV000276464 RCV000370877 RCV001571366 RCV000862055 RCV001289226
NM_004082.5(DCTN1):c.1140T>G (p.Leu380=)	SNV Germline	Chr2:74370333	Conflicting classifications of pathogenicity	Perry syndrome Neuronopathy, distal hereditary motor, type 7B Inborn genetic diseases Amyotrophic lateral sclerosis type 1 Neuronopathy, distal hereditary motor, type 7B Perry syndrome DCTN1-related disorder	Criteria Provided Conflicting Classifications	CA10613975	rs_886056332	4 SubmittersRCV000296007 RCV000387824 RCV002450911 RCV002519986 RCV004745346
NM_004082.5(DCTN1):c.2753C>A (p.Pro918His)	SNV Germline	Chr2:74366251	Conflicting classifications of pathogenicity	Neuronopathy, distal hereditary motor, type 7B Perry syndrome Amyotrophic lateral sclerosis type 1 Neuronopathy, distal hereditary motor, type 7B Perry syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1721748	rs_771075973	3 SubmittersRCV000269835 RCV000327510 RCV001861154 RCV002523140
NM_004082.5(DCTN1):c.2002C>T (p.His668Tyr)	SNV Germline	Chr2:74367984	Conflicting classifications of pathogenicity	Neuronopathy, distal hereditary motor, type 7B Amyotrophic lateral sclerosis type 1 Neuronopathy, distal hereditary motor, type 7B Perry syndrome Perry syndrome DCTN1-related disorder Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA1721991	rs_764443534	6 SubmittersRCV000308445 RCV000696804 RCV000392721 RCV003969969 RCV002418203 RCV005230266
NM_004082.5(DCTN1):c.1129A>C (p.Met377Leu)	SNV Germline	Chr2:74370344	Conflicting classifications of pathogenicity	Neuronopathy, distal hereditary motor, type 7B Perry syndrome Amyotrophic lateral sclerosis type 1 Neuronopathy, distal hereditary motor, type 7B Perry syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1722228	rs_570863800	3 SubmittersRCV000343892 RCV000399184 RCV000699176 RCV002519987
NM_004082.5(DCTN1):c.586A>G (p.Ile196Val)	SNV Germline	Chr2:74371596	Conflicting classifications of pathogenicity	Perry syndrome Neuronopathy, distal hereditary motor, type 7B not specified Condition: not provided Neuronopathy, distal hereditary motor, type 7B Perry syndrome Amyotrophic lateral sclerosis type 1 Amyotrophic lateral sclerosis	Criteria Provided Conflicting Classifications	CA1722375	rs_55862001	11 SubmittersRCV000333493 RCV000380851 RCV000507449 RCV000541293 RCV001084399 RCV001260196
NM_004082.5(DCTN1):c.3759G>A (p.Ala1253=)	SNV Germline	Chr2:74361577	Conflicting classifications of pathogenicity	Perry syndrome Neuronopathy, distal hereditary motor, type 7B Inborn genetic diseases Amyotrophic lateral sclerosis type 1 Neuronopathy, distal hereditary motor, type 7B Perry syndrome	Criteria Provided Conflicting Classifications	CA10615998	rs_886056328	3 SubmittersRCV000298235 RCV000353157 RCV002348089 RCV000704940
NM_004082.5(DCTN1):c.3197-13A>G	SNV Germline	Chr2:74363641	Conflicting classifications of pathogenicity	Perry syndrome Neuronopathy, distal hereditary motor, type 7B Amyotrophic lateral sclerosis type 1 Neuronopathy, distal hereditary motor, type 7B Perry syndrome Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA1721587	rs_374049568	4 SubmittersRCV000311315 RCV000392129 RCV002057711 RCV005230265 RCV005238924
NM_004082.5(DCTN1):c.60G>A (p.Ala20=)	SNV Germline	Chr2:74378219	Conflicting classifications of pathogenicity	Perry syndrome Neuronopathy, distal hereditary motor, type 7B Condition: not provided Neuronopathy, distal hereditary motor, type 7B Perry syndrome Amyotrophic lateral sclerosis type 1 DCTN1-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1722613	rs_150204862	5 SubmittersRCV000288698 RCV000327299 RCV000555240 RCV001088611 RCV003969970 RCV002356469
NM_004082.5(DCTN1):c.2278A>G (p.Met760Val)	SNV Germline	Chr2:74367083	Conflicting classifications of pathogenicity	Neuronopathy, distal hereditary motor, type 7B Perry syndrome Neuronopathy, distal hereditary motor, type 7B Perry syndrome Amyotrophic lateral sclerosis type 1 Condition: not provided not specified Inborn genetic diseases DCTN1-related disorder	Criteria Provided Conflicting Classifications	CA1721887	rs_754780894	6 SubmittersRCV000278941 RCV000336449 RCV000555724 RCV000997172 RCV000517874 RCV002446597 RCV003418060
NM_001199397.3(NEK1):c.642G>A (p.Lys214=)	SNV Germline	Chr4:169585514	Conflicting classifications of pathogenicity	Short-rib thoracic dysplasia 6 with or without polydactyly Mohr syndrome Short-rib thoracic dysplasia 6 with or without polydactyly Amyotrophic lateral sclerosis, susceptibility to, 24	Criteria Provided Conflicting Classifications	CA3137980	rs_369725706	3 SubmittersRCV000361438 RCV005027459
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 Condition: not provided MATR3-related disorder	Criteria Provided Conflicting Classifications	CA3433486	rs_201165929	5 SubmittersRCV000703755 RCV005411416 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 FIG4-related disorder	Criteria Provided Conflicting Classifications	CA3955715	rs_200257799	3 SubmittersRCV000291963 RCV000346970 RCV001449133 RCV004742397
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	Charcot-Marie-Tooth disease type 4J Charcot-Marie-Tooth disease type 4 Amyotrophic lateral sclerosis type 11	Criteria Provided Single Submitter	CA3955720	rs_753207473	3 SubmittersRCV001729560 RCV001861266 RCV000987758
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 type 4J Charcot-Marie-Tooth disease FIG4-related disorder	Criteria Provided Conflicting Classifications	CA3956032	rs_201293291	4 SubmittersRCV000260196 RCV000654276 RCV001095131 RCV001173514 RCV004742398
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 type 4 Charcot-Marie-Tooth disease type 4J Charcot-Marie-Tooth disease Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3956195	rs_201744761	8 SubmittersRCV000381459 RCV000604481 RCV000545092 RCV001094997 RCV001173281 RCV001706587 RCV004619276
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 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4 not specified Condition: not provided Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA5297024	rs_139063885	6 SubmittersRCV000284631 RCV000376752 RCV001080441 RCV001643106 RCV003422370 RCV001848725
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 Condition: not provided Inborn genetic diseases Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4	Criteria Provided Conflicting Classifications	CA5297452	rs_374091487	5 SubmittersRCV000304137 RCV000393561 RCV001810866 RCV002323570 RCV002523743
NM_015046.7(SETX):c.2469C>G (p.Phe823Leu)	SNV Germline	Chr9:132329129	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	CA5297588	rs_141163823	3 SubmittersRCV000375508 RCV000337733 RCV001662354 RCV001509826
NM_015046.7(SETX):c.2295C>A (p.Phe765Leu)	SNV Germline	Chr9:132329303	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	CA5297624	rs_771954896	3 SubmittersRCV000283365 RCV000340751 RCV004696117 RCV005209504
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 Condition: not provided 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	CA5296299	rs_553413088	4 SubmittersRCV000299852 RCV001662350 RCV000359404 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 Condition: not provided Hereditary spastic paraplegia not specified Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5296347	rs_34000644	10 SubmittersRCV000300843 RCV000337112 RCV000556745 RCV001643105 RCV001848723 RCV000507046 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 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4 SETX-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5296643	rs_200382898	4 SubmittersRCV000281744 RCV000339149 RCV003766100 RCV004530477 RCV002365438
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 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4 Condition: not provided	Criteria Provided Conflicting Classifications	CA10629236	rs_886063554	4 SubmittersRCV000289144 RCV000381150 RCV002356500 RCV003766101 RCV002472997
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 not specified 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	CA10629238	rs_886063555	4 SubmittersRCV000307504 RCV000518443 RCV000364537 RCV001243853 RCV005268601
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 Condition: not provided Neuronopathy, distal hereditary motor, autosomal dominant Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4 Hereditary spastic paraplegia SETX-related disorder	Criteria Provided Conflicting Classifications	CA5297553	rs_148181729	8 SubmittersRCV000280363 RCV000644850 RCV000789558 RCV000372562 RCV001079301 RCV001848726 RCV004732864
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 Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Cone-rod dystrophy not specified	Criteria Provided Conflicting Classifications	CA5297681	rs_780898043	5 SubmittersRCV000344541 RCV000390382 RCV000803584 RCV005625570 RCV004689725
NM_015046.7(SETX):c.9A>G (p.Thr3=)	SNV Germline	Chr9:132349420	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5298155	rs_139681694	2 SubmittersRCV000284093 RCV000378423 RCV002379258
NM_001008212.2(OPTN):c.444G>A (p.Val148=)	SNV Germline	Chr10:13112527	Conflicting classifications of pathogenicity	Primary open angle glaucoma Amyotrophic lateral sclerosis type 12 Glaucoma 1, open angle, E Amyotrophic lateral sclerosis type 12 Primary open angle glaucoma Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5410625	rs_780011442	3 SubmittersRCV000314652 RCV000402060 RCV002059530 RCV002328800
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 not specified Condition: not provided Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4	Criteria Provided Conflicting Classifications	CA5296290	rs_80296256	9 SubmittersRCV000263441 RCV000353602 RCV001700364 RCV000876067 RCV001081221
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 Inborn genetic diseases Condition: not provided Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4 SETX-related disorder	Criteria Provided Conflicting Classifications	CA5296343	rs_144121978	6 SubmittersRCV000335520 RCV000399643 RCV002402087 RCV001509370 RCV001861344 RCV004732862
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 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4 Amyotrophic lateral sclerosis type 4 Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA5296776	rs_142843968	7 SubmittersRCV000342521 RCV001358835 RCV000407208 RCV002365439 RCV001662351
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 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4	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 Inborn genetic diseases Condition: not provided SETX-related disorder	Criteria Provided Conflicting Classifications	CA5297785	rs_200614765	6 SubmittersRCV000262880 RCV000320659 RCV000687686 RCV002392927 RCV002472998 RCV004544713
NM_015046.7(SETX):c.472T>G (p.Leu158Val)	SNV Germline	Chr9:132342716	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 Hereditary spastic paraplegia Inborn genetic diseases SETX-related disorder not specified	Criteria Provided Conflicting Classifications	CA5298036	rs_145438764	12 SubmittersRCV000399144 RCV000350037 RCV000513524 RCV001080659 RCV001848728 RCV002338960 RCV004530478 RCV003317200
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	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	CA5296314	rs_543247171	7 SubmittersRCV000383186 RCV000328640 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 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5296324	rs_200507089	3 SubmittersRCV000293531 RCV000348329 RCV002523741 RCV002411265
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 Inborn genetic diseases Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4 Condition: not provided	Criteria Provided Conflicting Classifications	CA5296398	rs_151304085	4 SubmittersRCV000266732 RCV000361458 RCV002379256 RCV002524586 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 Inborn genetic diseases SETX-related disorder Condition: not provided Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4	Criteria Provided Conflicting Classifications	CA5297167	rs_147018359	6 SubmittersRCV000348389 RCV002338959 RCV004544710 RCV003482252 RCV000400900 RCV000644810
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 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4	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 Glaucoma 1, open angle, E Amyotrophic lateral sclerosis type 12 Primary open angle glaucoma	Criteria Provided Conflicting Classifications	CA5410675	rs_773095721	2 SubmittersRCV000267937 RCV000323047 RCV005222883
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	Amyotrophic lateral sclerosis type 12 Primary open angle glaucoma Inborn genetic diseases Glaucoma 1, open angle, E Amyotrophic lateral sclerosis type 12 Primary open angle glaucoma	Criteria Provided Conflicting Classifications	CA5411021	rs_771316696	3 SubmittersRCV000305057 RCV000401566 RCV002402014 RCV002520542
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 Inborn genetic diseases Amyotrophic lateral sclerosis type 6 Tremor, hereditary essential, 4 Condition: not provided	Criteria Provided Conflicting Classifications	CA8023532	rs_776333956	5 SubmittersRCV000352976 RCV004021657 RCV002521010 RCV003409496
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 Condition: not provided Amyotrophic lateral sclerosis Spastic paraplegia Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA6653255	rs_139801016	7 SubmittersRCV000391548 RCV000994942 RCV001260220 RCV001039954 RCV001848094
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_001097577.3(ANG):c.365C>T (p.Ala122Val)	SNV Germline	Chr14:20693929	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 9 Condition: not provided	Criteria Provided Conflicting Classifications	CA7083182	rs_374766597	2 SubmittersRCV000284382 RCV005055865
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_025137.4(SPG11):c.2317-13C>G	SNV Germline	Chr15:44622360	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 11 Condition: not provided Hereditary spastic paraplegia 11 Charcot-Marie-Tooth disease axonal type 2X Amyotrophic lateral sclerosis type 5	Criteria Provided Multiple Submitters No Conflicts	CA10647003	rs_372670941	5 SubmittersRCV000310734 RCV002286730 RCV005010276
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 Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 Condition: not provided	Criteria Provided Conflicting Classifications	CA8052119	rs_764097337	3 SubmittersRCV000311859 RCV000370163 RCV000404707 RCV003469254 RCV002264928
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 Amyotrophic lateral sclerosis type 8 Adult-onset proximal spinal muscular atrophy, autosomal dominant Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9924316	rs_747208140	3 SubmittersRCV000264195 RCV000321639 RCV002520024 RCV002356472
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 Inborn genetic diseases Amyotrophic lateral sclerosis type 8 Adult-onset proximal spinal muscular atrophy, autosomal dominant	Criteria Provided Conflicting Classifications	CA10652677	rs_886056811	3 SubmittersRCV000347700 RCV000402917 RCV002323547 RCV002254693
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 Amyotrophic lateral sclerosis type 8 Adult-onset proximal spinal muscular atrophy, autosomal dominant Condition: not provided Inborn genetic diseases VAPB-related disorder	Criteria Provided Conflicting Classifications	CA9924308	rs_201798741	5 SubmittersRCV000299440 RCV000356646 RCV002254548 RCV001564242 RCV002348093 RCV003922478
NM_000454.5(SOD1):c.66G>A (p.Glu22=)	SNV Germline	Chr21:31659835	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 1 Inborn genetic diseases SOD1-related disorder	Criteria Provided Conflicting Classifications	CA9998860	rs_756458346	4 SubmittersRCV000387182 RCV004668900 RCV004745347
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 Amyotrophic lateral sclerosis 27, juvenile Neuropathy, hereditary sensory and autonomic, type IA, severe	Criteria Provided Multiple Submitters No Conflicts	CA16042656	rs_267607087	4 SubmittersRCV000414705 RCV000790228 RCV000795948 RCV003152600 RCV001249813
NM_025137.4(SPG11):c.5381T>C (p.Leu1794Pro)	SNV Germline	Chr15:44584299	Pathogenic/Likely pathogenic	Spastic paraparesis Difficulty walking Generalized hyperreflexia Gait disturbance Condition: not provided Hereditary spastic paraplegia 11 Hereditary spastic paraplegia 11 Amyotrophic lateral sclerosis type 5 Charcot-Marie-Tooth disease axonal type 2X Hereditary spastic paraplegia Amyotrophic lateral sclerosis Inborn genetic diseases Hereditary spastic paraplegia 11 Juvenile amyotrophic lateral sclerosis Charcot-Marie-Tooth disease axonal type 2X Charcot-Marie-Tooth disease axonal type 2X	Criteria Provided Multiple Submitters No Conflicts	CA7534422	rs_201689565	19 SubmittersRCV000414944 RCV001268887 RCV000801301 RCV005010315 RCV001848737 RCV003105892 RCV003168606 RCV003483611 RCV004767249
NM_020919.4(ALS2):c.3415C>T (p.Arg1139Ter)	SNV Germline	Chr2:201724392	Pathogenic/Likely pathogenic	Condition: not provided Inborn genetic diseases Amyotrophic lateral sclerosis type 2, juvenile Infantile-onset ascending hereditary spastic paralysis Amyotrophic lateral sclerosis type 2, juvenile Infantile-onset ascending hereditary spastic paralysis Juvenile primary lateral sclerosis	Criteria Provided Multiple Submitters No Conflicts	CA2057886	rs_767350733	5 SubmittersRCV000421128 RCV000624087 RCV000735438 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_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 Condition: not provided ALS2-related disorder Amyotrophic lateral sclerosis type 2, juvenile not specified Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA2057766	rs_3219166	9 SubmittersRCV000473535 RCV001531945 RCV001143531 RCV001143532 RCV001662448 RCV001848840
NM_014845.6(FIG4):c.834A>T (p.Lys278Asn)	SNV Germline	Chr6:109741502	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease type 4J Amyotrophic lateral sclerosis type 11 Yunis-Varon syndrome Bilateral parasagittal parieto-occipital polymicrogyria not specified Condition: not provided FIG4-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3955919	rs_138048706	11 SubmittersRCV000462434 RCV000662126 RCV000662127 RCV000662128 RCV000662129 RCV001662424 RCV001573278 RCV003970280 RCV002411445
NM_004984.4(KIF5A):c.1264C>T (p.Arg422Cys)	SNV Germline	Chr12:57570133	Conflicting classifications of pathogenicity	Spastic paraplegia KIF5A-related disorder Condition: not provided Hereditary spastic paraplegia 10 Amyotrophic lateral sclerosis, susceptibility to, 25	Criteria Provided Conflicting Classifications	CA6652803	rs_748402153	6 SubmittersRCV000458531 RCV004551528 RCV001289240 RCV001114824 RCV005411441
NM_004984.4(KIF5A):c.2146C>T (p.Arg716Trp)	SNV Germline	Chr12:57576326	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis Spastic paraplegia KIF5A-related disorder	Criteria Provided Conflicting Classifications	CA6653017	rs_377539747	3 SubmittersRCV001843522 RCV000471143 RCV004737532
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 Hereditary spastic paraplegia 11 Amyotrophic lateral sclerosis type 5 Charcot-Marie-Tooth disease axonal type 2X Charcot-Marie-Tooth disease axonal type 2X not specified SPG11-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7534494	rs_145643238	17 SubmittersRCV000456956 RCV000658710 RCV001252107 RCV002467808 RCV003483617 RCV002467809 RCV003488606 RCV004748768 RCV002339138
NM_025137.4(SPG11):c.2656T>C (p.Tyr886His)	SNV Germline	Chr15:44620368	Conflicting classifications of pathogenicity	not specified Amyotrophic lateral sclerosis Hereditary spastic paraplegia 11 Condition: not provided Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA7535167	rs_139687202	10 SubmittersRCV000518728 RCV001260217 RCV000475662 RCV001563519 RCV001848826
NM_025137.4(SPG11):c.3320G>C (p.Cys1107Ser)	SNV Germline	Chr15:44608577	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 11 not specified Inborn genetic diseases Hereditary spastic paraplegia 11 Amyotrophic lateral sclerosis type 5 Charcot-Marie-Tooth disease axonal type 2X	Criteria Provided Conflicting Classifications	CA7534998	rs_201271196	4 SubmittersRCV000472310 RCV003155188 RCV002323697 RCV002496754
NM_025137.4(SPG11):c.3425C>G (p.Ser1142Cys)	SNV Germline	Chr15:44608472	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 11 Hereditary spastic paraplegia 11 Amyotrophic lateral sclerosis type 5 Charcot-Marie-Tooth disease axonal type 2X Amyotrophic lateral sclerosis Condition: not provided Amyotrophic lateral sclerosis type 5 Hereditary spastic paraplegia Charcot-Marie-Tooth disease axonal type 2X SPG11-related disorder	Criteria Provided Conflicting Classifications	CA7534986	rs_201082396	10 SubmittersRCV000462305 RCV000765212 RCV001260216 RCV001508758 RCV002467814 RCV001848803 RCV002467815 RCV003401464
NM_004082.5(DCTN1):c.3010C>G (p.Leu1004Val)	SNV Germline	Chr2:74365534	Conflicting classifications of pathogenicity	Condition: not provided Perry syndrome Amyotrophic lateral sclerosis type 1 Neuronopathy, distal hereditary motor, type 7B DCTN1-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1721654	rs_758387062	4 SubmittersRCV000479029 RCV001463517 RCV003900024 RCV002438188
NM_014845.6(FIG4):c.737G>A (p.Trp246Ter)	SNV Germline	Chr6:109738415	Pathogenic	Condition: not provided Amyotrophic lateral sclerosis type 11 Charcot-Marie-Tooth disease type 4J Yunis-Varon syndrome Bilateral parasagittal parieto-occipital polymicrogyria Inborn genetic diseases Charcot-Marie-Tooth disease type 4 FIG4-related disorder Charcot-Marie-Tooth disease type 4J	Criteria Provided Multiple Submitters No Conflicts	CA16618230	rs_776005417	8 SubmittersRCV000478168 RCV000763552 RCV002525832 RCV001232367 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 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4 Inborn genetic diseases SETX-related disorder not specified	Criteria Provided Conflicting Classifications	CA5297318	rs_148604312	9 SubmittersRCV000515884 RCV000560688 RCV000859602 RCV001169791 RCV001169792 RCV002356794 RCV004541530 RCV005434963
NM_015046.7(SETX):c.3229G>A (p.Asp1077Asn)	SNV Germline	Chr9:132328369	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 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 not specified SETX-related disorder Inborn genetic diseases Amyotrophic lateral sclerosis	Criteria Provided Conflicting Classifications	CA5297445	rs_145097270	10 SubmittersRCV000515959 RCV000517650 RCV001082564 RCV001167391 RCV001168005 RCV001283502 RCV004535538 RCV002446949 RCV003105922
NM_004082.5(DCTN1):c.3128G>A (p.Arg1043His)	SNV Germline	Chr2:74365143	Conflicting classifications of pathogenicity	Condition: not provided Amyotrophic lateral sclerosis type 1 Perry syndrome Neuronopathy, distal hereditary motor, type 7B	Criteria Provided Conflicting Classifications	CA1721621	rs_776489779	3 SubmittersRCV000488183 RCV000558488
NM_020919.4(ALS2):c.3158G>A (p.Trp1053Ter)	SNV Germline	Chr2:201726688	Pathogenic/Likely pathogenic	Condition: not provided Infantile-onset ascending hereditary spastic paralysis Juvenile primary lateral sclerosis Amyotrophic lateral sclerosis type 2, juvenile Infantile-onset ascending hereditary spastic paralysis 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_015046.7(SETX):c.5203G>A (p.Val1735Ile)	SNV Germline	Chr9:132326395	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 See cases	Criteria Provided Conflicting Classifications	CA5297055	rs_752646721	5 SubmittersRCV000498384 RCV003233653 RCV003233654 RCV001851384 RCV002252142
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	3 SubmittersRCV000498690 RCV003766796
NM_015046.7(SETX):c.3010A>G (p.Asn1004Asp)	SNV Germline	Chr9:132328588	Conflicting classifications of pathogenicity	not specified Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Condition: not provided SETX-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5297500	rs_77984885	6 SubmittersRCV000507293 RCV001089104 RCV000552319 RCV004541589 RCV002438234
NM_007375.4(TARDBP):c.87C>T (p.Ser29=)	SNV Germline	Chr1:11013814	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED Amyotrophic lateral sclerosis type 10	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 Amyotrophic lateral sclerosis type 6 Tremor, hereditary essential, 4 Amyotrophic lateral sclerosis type 6 FUS-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8023935	rs_190724342	5 SubmittersRCV000512789 RCV001078775 RCV001117054 RCV003902815 RCV002420293
NM_015046.7(SETX):c.5322G>T (p.Gln1774His)	SNV Germline	Chr9:132311809	Conflicting classifications of pathogenicity	Condition: not provided Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	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_001199397.3(NEK1):c.418G>A (p.Gly140Arg)	SNV Germline	Chr4:169589493	Conflicting classifications of pathogenicity	Mohr syndrome Amyotrophic lateral sclerosis, susceptibility to, 24 Short-rib thoracic dysplasia 6 with or without polydactyly Type IV short rib polydactyly syndrome Short-rib thoracic dysplasia 6 with or without polydactyly	Criteria Provided Conflicting Classifications	CA358741166	rs_1301705612	4 SubmittersRCV005034060 RCV000515887 RCV003152715
NM_004082.5(DCTN1):c.837G>A (p.Ala279=)	SNV Germline	Chr2:74370985	Conflicting classifications of pathogenicity	Condition: not provided not specified Amyotrophic lateral sclerosis type 1 Perry syndrome Neuronopathy, distal hereditary motor, type 7B DCTN1-related disorder	Criteria Provided Conflicting Classifications	CA1722318	rs_72466489	5 SubmittersRCV000585130 RCV000516655 RCV001088199 RCV003942686
NM_004082.5(DCTN1):c.442C>T (p.Arg148Trp)	SNV Germline	Chr2:74372939	Conflicting classifications of pathogenicity	Condition: not provided not specified Neuronopathy, distal hereditary motor, type 7B Perry syndrome Neuronopathy, distal hereditary motor, type 7B Amyotrophic lateral sclerosis type 1	Criteria Provided Conflicting Classifications	CA1722418	rs_148810193	5 SubmittersRCV000517517 RCV005056104 RCV001329176 RCV000644478
NM_004082.5(DCTN1):c.279+1G>C	SNV Germline	Chr2:74377999	Pathogenic/Likely pathogenic	Condition: not provided Perry syndrome Neuronopathy, distal hereditary motor, type 7B Amyotrophic lateral sclerosis type 1 Amyotrophic lateral sclerosis	Criteria Provided Multiple Submitters No Conflicts	CA347321489	rs_1393363759	3 SubmittersRCV000516456 RCV001232579 RCV003993994
NM_004082.5(DCTN1):c.40A>G (p.Ser14Gly)	SNV Germline	Chr2:74378239	Conflicting classifications of pathogenicity	Perry syndrome Neuronopathy, distal hereditary motor, type 7B Amyotrophic lateral sclerosis type 1 Condition: not provided DCTN1-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1722618	rs_758320436	4 SubmittersRCV000529783 RCV000516591 RCV003935364 RCV004023504
NM_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 Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 Paget disease of bone 2, early-onset 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 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	CA5296340	rs_370366576	4 SubmittersRCV000518348 RCV002404331 RCV003233697 RCV003233696 RCV005213318
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 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 SETX-related disorder	Criteria Provided Conflicting Classifications	CA5296390	rs_142303658	10 SubmittersRCV000518280 RCV000764810 RCV000624322 RCV001702669 RCV001731743 RCV004541621
NM_015046.7(SETX):c.7139G>A (p.Arg2380Gln)	SNV Germline	Chr9:132271770	Conflicting classifications of pathogenicity	Condition: not provided 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 SETX-related disorder	Criteria Provided Conflicting Classifications	CA5296494	rs_145397619	7 SubmittersRCV000518213 RCV000524648 RCV001814998 RCV003233693 RCV003233692 RCV004541620
NM_015046.7(SETX):c.5998C>G (p.Gln2000Glu)	SNV Germline	Chr9:132295980	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	CA5296854	rs_142917412	5 SubmittersRCV000644817 RCV002358400 RCV002473039 RCV004541618
NM_015046.7(SETX):c.5804A>G (p.Asn1935Ser)	SNV Germline	Chr9:132297032	Conflicting classifications of pathogenicity	not specified Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4	Criteria Provided Conflicting Classifications	CA5296892	rs_762791927	2 SubmittersRCV000518592 RCV002525079
NM_015046.7(SETX):c.5501A>G (p.His1834Arg)	SNV Germline	Chr9:132300677	Conflicting classifications of pathogenicity	not specified 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	CA5296972	rs_770822383	4 SubmittersRCV000517645 RCV001246159 RCV002350140 RCV003233687 RCV003233688
NM_015046.7(SETX):c.5294A>G (p.Asn1765Ser)	SNV Germline	Chr9:132311837	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4	Criteria Provided Conflicting Classifications	CA5297022	rs_373085593	3 SubmittersRCV000518457 RCV002350139 RCV005213317
NM_015046.7(SETX):c.4865C>T (p.Pro1622Leu)	SNV Germline	Chr9:132326733	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 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4	Criteria Provided Conflicting Classifications	CA5297121	rs_140781535	9 SubmittersRCV000518382 RCV000764811 RCV001579382 RCV002341213 RCV003233685 RCV003233686
NM_015046.7(SETX):c.4433C>A (p.Ala1478Glu)	SNV Germline	Chr9:132327165	Conflicting classifications of pathogenicity	Condition: not provided Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Inborn genetic diseases Amyotrophic lateral sclerosis type 4 not specified Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Hereditary spastic paraplegia SETX-related disorder	Criteria Provided Conflicting Classifications	CA5297202	rs_143661911	10 SubmittersRCV000518326 RCV000550269 RCV002329225 RCV001165737 RCV001644615 RCV001167321 RCV001848902 RCV004537862
NM_015046.7(SETX):c.4120A>G (p.Lys1374Glu)	SNV Germline	Chr9:132327478	Conflicting classifications of pathogenicity	not specified Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4	Criteria Provided Conflicting Classifications	CA5297266	rs_756823072	2 SubmittersRCV000516516 RCV002527524
NM_015046.7(SETX):c.4045C>G (p.Gln1349Glu)	SNV Germline	Chr9:132327553	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 Amyotrophic lateral sclerosis type 4	Criteria Provided Conflicting Classifications	CA200807527	rs_146407699	3 SubmittersRCV000518088 RCV000644816 RCV003233683 RCV003233684
NM_015046.7(SETX):c.3602T>C (p.Ile1201Thr)	SNV Germline	Chr9:132327996	Conflicting classifications of pathogenicity	Condition: not provided Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4	Criteria Provided Conflicting Classifications	CA5297364	rs_750443804	2 SubmittersRCV002473038 RCV005222988
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 SETX-related disorder Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	Criteria Provided Conflicting Classifications	CA5297495	rs_766799023	4 SubmittersRCV000516603 RCV001851461 RCV003233678 RCV004537860 RCV003233677
NM_015046.7(SETX):c.3016G>A (p.Gly1006Arg)	SNV Germline	Chr9:132328582	Conflicting classifications of pathogenicity	not specified 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	Criteria Provided Conflicting Classifications	CA5297499	rs_141266068	8 SubmittersRCV000517441 RCV001311797 RCV000644833 RCV002438247 RCV004787827
NM_015046.7(SETX):c.2862G>A (p.Thr954=)	SNV Germline	Chr9:132328736	Conflicting classifications of pathogenicity	not specified Condition: not provided Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5297523	rs_149610510	4 SubmittersRCV000518240 RCV003431058 RCV001857928 RCV002438246
NM_015046.7(SETX):c.2842C>A (p.Pro948Thr)	SNV Germline	Chr9:132328756	Conflicting classifications of pathogenicity	not specified Condition: not provided SETX-related disorder 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	6 SubmittersRCV000517506 RCV001755772 RCV004732920 RCV003766933 RCV003233673 RCV003233674
NM_015046.7(SETX):c.2395C>T (p.His799Tyr)	SNV Germline	Chr9:132329203	Conflicting classifications of pathogenicity	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4 Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA5297604	rs_200459144	3 SubmittersRCV000551603 RCV002448560 RCV005000087
NM_015046.7(SETX):c.2390A>G (p.Lys797Arg)	SNV Germline	Chr9:132329208	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	CA375336137	rs_1273786747	3 SubmittersRCV001644613 RCV001857927 RCV003233672 RCV003233671
NM_015046.7(SETX):c.1690T>G (p.Leu564Val)	SNV Germline	Chr9:132329908	Conflicting classifications of pathogenicity	not specified Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4 Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA5297732	rs_761877146	4 SubmittersRCV000518116 RCV000695046 RCV002413399 RCV004772950
NM_015046.7(SETX):c.1392A>G (p.Ser464=)	SNV Germline	Chr9:132330206	Conflicting classifications of pathogenicity	not specified Hereditary spastic paraplegia Inborn genetic diseases Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4 SETX-related disorder	Criteria Provided Conflicting Classifications	CA5297784	rs_144164119	5 SubmittersRCV000517536 RCV001848899 RCV002395236 RCV001463467 RCV004732919
NM_015046.7(SETX):c.806C>T (p.Ser269Leu)	SNV Germline	Chr9:132334640	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 Condition: not provided Inborn genetic diseases SETX-related disorder	Criteria Provided Conflicting Classifications	CA5297936	rs_757988188	7 SubmittersRCV000517524 RCV001168904 RCV001039811 RCV001168905 RCV002223857 RCV002420301 RCV004732922
NM_015046.7(SETX):c.654G>C (p.Lys218Asn)	SNV Germline	Chr9:132336360	Conflicting classifications of pathogenicity	not specified 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 Hereditary spastic paraplegia Inborn genetic diseases SETX-related disorder	Criteria Provided Conflicting Classifications	CA5297991	rs_117861188	12 SubmittersRCV000516905 RCV000535102 RCV001311799 RCV001166018 RCV001166019 RCV001848903 RCV002367720 RCV004541619
NM_015046.7(SETX):c.172C>T (p.His58Tyr)	SNV Germline	Chr9:132349257	Conflicting classifications of pathogenicity	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4 Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA200838114	rs_757760067	3 SubmittersRCV001049138 RCV002404330 RCV005000086
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 Condition: not provided	Criteria Provided Conflicting Classifications	CA7535442	rs_763060505	4 SubmittersRCV000517770 RCV001851462 RCV002467849 RCV002467850 RCV005054210
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 Inborn genetic diseases 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	Criteria Provided Conflicting Classifications	CA9924325	rs_144718603	5 SubmittersRCV000516581 RCV002367723 RCV001143189 RCV001143188 RCV002254551
NM_004082.5(DCTN1):c.673C>T (p.Arg225Trp)	SNV Germline	Chr2:74371149	Conflicting classifications of pathogenicity	Condition: not provided Neuronopathy, distal hereditary motor, type 7B Amyotrophic lateral sclerosis type 1 Perry syndrome Neuronopathy, distal hereditary motor, type 7B Perry syndrome Parkinsonian disorder DCTN1-related disorder not specified Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1722338	rs_371723224	8 SubmittersRCV000756010 RCV000644472 RCV001137903 RCV001137904 RCV002272277 RCV003900094 RCV005239134 RCV002527653
NM_015046.7(SETX):c.3029G>A (p.Arg1010His)	SNV Germline	Chr9:132328569	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4 not specified SETX-related disorder Amyotrophic lateral sclerosis type 4	Criteria Provided Conflicting Classifications	CA5297494	rs_370781594	7 SubmittersRCV000521273 RCV002438262 RCV001306845 RCV001662531 RCV004541636 RCV004787833
NM_007126.5(VCP):c.278G>A (p.Arg93His)	SNV Germline	Chr9:35067915	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	CA5039527	rs_779959657	3 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_003900.5(SQSTM1):c.763G>C (p.Val255Leu)	SNV Germline	Chr5:179833040	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	CA3600669	rs_182522590	2 SubmittersRCV000544306 RCV004791567
NM_015046.7(SETX):c.4436C>T (p.Ala1479Val)	SNV Germline	Chr9:132327162	Conflicting classifications of pathogenicity	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4 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 not specified Inborn genetic diseases 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	CA5297250	rs_148078248	8 SubmittersRCV000542207 RCV003403306 RCV002330911 RCV001085153 RCV001167323 RCV001167324
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 SETX-related disorder Inborn genetic diseases not specified	Criteria Provided Conflicting Classifications	CA5297271	rs_140147684	11 SubmittersRCV000549234 RCV001167927 RCV001167928 RCV001288399 RCV004541717 RCV002323994 RCV004782439
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 SETX-related disorder	Criteria Provided Conflicting Classifications	CA5297546	rs_148375192	4 SubmittersRCV000552679 RCV001165886 RCV001165887 RCV002431641 RCV004732941
NM_015046.7(SETX):c.93A>G (p.Gln31=)	SNV Germline	Chr9:132349336	Conflicting classifications of pathogenicity	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4 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 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4 Inborn genetic diseases not specified SETX-related disorder Hereditary spastic paraplegia Condition: not provided See cases	Criteria Provided Conflicting Classifications	CA5297587	rs_150532677	15 SubmittersRCV000540061 RCV001167461 RCV001167462 RCV002456164 RCV001000648 RCV004538008 RCV001848950 RCV000762582 RCV002252164
NM_015046.7(SETX):c.7100+9T>C	SNV Germline	Chr9:132275247	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 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 Inborn genetic diseases Hereditary spastic paraplegia SETX-related disorder	Criteria Provided Conflicting Classifications	CA5297098	rs_146873848	12 SubmittersRCV000558440 RCV000859806 RCV001644653 RCV002341378 RCV001848953 RCV004538011
NM_015046.7(SETX):c.2282C>T (p.Ser761Leu)	SNV Germline	Chr9:132329316	Conflicting classifications of pathogenicity	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4 Inborn genetic diseases SETX-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA5297629	rs_200153024	4 SubmittersRCV000526691 RCV002448727 RCV004541714 RCV003480678
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 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	CA5297945	rs_759468738	3 SubmittersRCV000536421 RCV001168906 RCV001168907 RCV002404485
NM_015046.7(SETX):c.192A>G (p.Leu64=)	SNV Germline	Chr9:132346457	Conflicting classifications of pathogenicity	not specified Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Condition: not provided Hereditary spastic paraplegia Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5298104	rs_117326462	8 SubmittersRCV001287950 RCV000556642 RCV001558290 RCV001848949 RCV001167591 RCV001167592 RCV002413561
NM_015046.7(SETX):c.2854A>G (p.Thr952Ala)	SNV Germline	Chr9:132328744	Conflicting classifications of pathogenicity	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA375333512	rs_1375463032	2 SubmittersRCV000533100 RCV004659095
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 Condition: not provided	Criteria Provided Conflicting Classifications	CA5297590	rs_369470593	3 SubmittersRCV000527749 RCV002456163 RCV004592584
NM_015046.7(SETX):c.2005A>T (p.Asn669Tyr)	SNV Germline	Chr9:132329593	Conflicting classifications of pathogenicity	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	CA5297680	rs_143727702	4 SubmittersRCV000537094 RCV000992930 RCV002420466 RCV004732940
NM_007126.5(VCP):c.426G>A (p.Ala142=)	SNV Germline	Chr9:35066694	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	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	Autosomal recessive distal spinal muscular atrophy 2 Amyotrophic lateral sclerosis type 16 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	7 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 Amyotrophic lateral sclerosis type 5 Hereditary spastic paraplegia Charcot-Marie-Tooth disease axonal type 2X	Criteria Provided Conflicting Classifications	CA658658292	rs_1555451101	3 SubmittersRCV000544562 RCV002467866 RCV001848945 RCV002467867
NM_025137.4(SPG11):c.5315G>A (p.Arg1772His)	SNV Germline	Chr15:44584365	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 11 Charcot-Marie-Tooth disease axonal type 2X Hereditary spastic paraplegia Condition: not provided Amyotrophic lateral sclerosis type 5 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7534430	rs_150823040	7 SubmittersRCV000541207 RCV002467875 RCV001848946 RCV002509426 RCV002467874 RCV003372748
NM_025137.4(SPG11):c.4261G>A (p.Asp1421Asn)	SNV Germline	Chr15:44596256	Conflicting classifications of pathogenicity	Inborn genetic diseases Charcot-Marie-Tooth disease axonal type 2X Amyotrophic lateral sclerosis type 5 Condition: not provided Hereditary spastic paraplegia 11 Amyotrophic lateral sclerosis type 5 Hereditary spastic paraplegia 11 Charcot-Marie-Tooth disease axonal type 2X	Criteria Provided Conflicting Classifications	CA7534720	rs_191148548	5 SubmittersRCV002330887 RCV002467869 RCV002467868 RCV002263778 RCV000556968 RCV004796233
NM_025137.4(SPG11):c.4591C>T (p.Gln1531Ter)	SNV Germline	Chr15:44595303	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 11 Hereditary spastic paraplegia 11 Charcot-Marie-Tooth disease axonal type 2X Amyotrophic lateral sclerosis type 5	Criteria Provided Multiple Submitters No Conflicts	CA392226101	rs_1362530862	2 SubmittersRCV000549837 RCV005010510
NM_213720.3(CHCHD10):c.214G>A (p.Ala72Thr)	SNV Germline	Chr22:23767421	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 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	4 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 Single Submitter	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 Condition: not provided ANXA11-related disorder Amyotrophic lateral sclerosis	Criteria Provided Multiple Submitters No Conflicts	CA5576379	rs_142083484	5 SubmittersRCV000578149 RCV001860003 RCV003962641 RCV003105971
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	Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 not specified Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Condition: not provided Inborn genetic diseases Amyotrophic lateral sclerosis type 4 Hereditary spastic paraplegia SETX-related disorder	Criteria Provided Conflicting Classifications	CA5296870	rs_374656811	11 SubmittersRCV000644836 RCV001706679 RCV001169651 RCV000713224 RCV002358638 RCV001165667 RCV001848978 RCV004530626
NM_001008212.2(OPTN):c.127C>T (p.Gln43Ter)	SNV Germline	Chr10:13109249	Pathogenic/Likely pathogenic	Condition: not provided Primary open angle glaucoma Glaucoma 1, open angle, E Amyotrophic lateral sclerosis type 12	Criteria Provided Multiple Submitters No Conflicts	CA203254276	rs_934287314	2 SubmittersRCV000578674 RCV001860012
NM_025137.4(SPG11):c.1085G>A (p.Trp362Ter)	SNV Germline	Chr15:44651862	Pathogenic	Condition: not provided Hereditary spastic paraplegia 11 Amyotrophic lateral sclerosis type 5 Charcot-Marie-Tooth disease axonal type 2X Hereditary spastic paraplegia 11 Hereditary spastic paraplegia Amyotrophic lateral sclerosis type 5 Charcot-Marie-Tooth disease axonal type 2X	Criteria Provided Multiple Submitters No Conflicts	CA7535624	rs_140385286	8 SubmittersRCV000578726 RCV000642546 RCV000763352 RCV001848979 RCV002467901 RCV002467902
NM_004960.4(FUS):c.*48G>A	SNV Germline	Chr16:31191486	Conflicting classifications of pathogenicity	Condition: not provided Amyotrophic lateral sclerosis type 6 Tremor, hereditary essential, 4 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 Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 SETX-related disorder	Criteria Provided Conflicting Classifications	CA5296396	rs_760196991	6 SubmittersRCV000585562 RCV003233754 RCV003233755 RCV001860112 RCV004530633
NM_015046.7(SETX):c.6085A>G (p.Lys2029Glu)	SNV Germline	Chr9:132295893	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	CA5296844	rs_746525639	5 SubmittersRCV000585033 RCV003233757 RCV003233756 RCV005213328 RCV002358643
NM_015046.7(SETX):c.4A>G (p.Ser2Gly)	SNV Germline	Chr9:132349425	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases SETX-related disorder Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	Criteria Provided Conflicting Classifications	CA5298157	rs_149808180	4 SubmittersRCV000585415 RCV002341496 RCV004530634 RCV001860113
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 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	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/Likely pathogenic	Amyotrophic lateral sclerosis, susceptibility to, 25 Spastic paraplegia Hereditary spastic paraplegia 10	Criteria Provided Multiple Submitters No Conflicts	CA385517122	rs_1555179091	3 SubmittersRCV000599583 RCV001854130 RCV005409683
NM_004984.4(KIF5A):c.3019A>G (p.Arg1007Gly)	SNV Germline	Chr12:57582628	Pathogenic/Likely pathogenic	Amyotrophic lateral sclerosis, susceptibility to, 25 Spastic paraplegia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA385517105	rs_1555179087	3 SubmittersRCV000598752 RCV002531121 RCV003311856
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 Amyotrophic lateral sclerosis type 2, juvenile ALS2-related disorder Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA2057993	rs_41308840	4 SubmittersRCV000640994 RCV001139219 RCV001139218 RCV001591429 RCV005000433
NM_020919.4(ALS2):c.331G>A (p.Val111Ile)	SNV Germline	Chr2:201761663	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 2, juvenile Infantile-onset ascending hereditary spastic paralysis ALS2-related disorder not specified Hereditary spastic paraplegia ALS2-related motor neuron disease	Criteria Provided Conflicting Classifications	CA2058669	rs_61745503	5 SubmittersRCV001137295 RCV001089250 RCV001137294 RCV001644727 RCV001849016 RCV005357852
NM_004082.5(DCTN1):c.3558G>A (p.Met1186Ile)	SNV Germline	Chr2:74362701	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 1 Perry syndrome Neuronopathy, distal hereditary motor, type 7B Charcot-Marie-Tooth disease Inborn genetic diseases DCTN1-related disorder Neuronopathy, distal hereditary motor, type 7B	Criteria Provided Conflicting Classifications	CA1721440	rs_200834352	5 SubmittersRCV000644479 RCV001027492 RCV002458080 RCV003965364 RCV005357855
NM_004082.5(DCTN1):c.3127C>T (p.Arg1043Cys)	SNV Germline	Chr2:74365144	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 1 Perry syndrome Neuronopathy, distal hereditary motor, type 7B Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1721622	rs_140066692	3 SubmittersRCV000644468 RCV002528909
NM_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 not specified	Criteria Provided Conflicting Classifications	CA3955852	rs_529048339	6 SubmittersRCV000654270 RCV001154805 RCV001154806 RCV002360664 RCV003488768 RCV003918092 RCV005000464
NM_015046.7(SETX):c.7708C>T (p.Pro2570Ser)	SNV Germline	Chr9:132264565	Conflicting classifications of pathogenicity	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA375323518	rs_1240232139	2 SubmittersRCV000644818 RCV005268692
NM_015046.7(SETX):c.4979A>G (p.His1660Arg)	SNV Germline	Chr9:132326619	Conflicting classifications of pathogenicity	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4 Inborn genetic diseases Hereditary spastic paraplegia Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Condition: not provided Amyotrophic lateral sclerosis type 4	Criteria Provided Conflicting Classifications	CA5297100	rs_371894414	5 SubmittersRCV000644814 RCV002334141 RCV001849022 RCV003233771 RCV002473088 RCV003233772
NM_015046.7(SETX):c.2755G>C (p.Val919Leu)	SNV Germline	Chr9:132328843	Conflicting classifications of pathogenicity	Condition: not provided 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 not specified	Criteria Provided Conflicting Classifications	CA5297536	rs_561190371	8 SubmittersRCV000992932 RCV000644837 RCV002440309 RCV001262697 RCV001270092 RCV003317317
NM_015046.7(SETX):c.2411T>C (p.Leu804Ser)	SNV Germline	Chr9:132329187	Conflicting classifications of pathogenicity	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	CA5297599	rs_201096140	6 SubmittersRCV000644819 RCV003480733 RCV004723028 RCV002458083
NM_015046.7(SETX):c.968G>A (p.Ser323Asn)	SNV Germline	Chr9:132331319	Conflicting classifications of pathogenicity	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4 not specified Inborn genetic diseases Condition: not provided SETX-related disorder	Criteria Provided Conflicting Classifications	CA5297886	rs_372193033	7 SubmittersRCV000644822 RCV001644729 RCV002369707 RCV003424222 RCV004732984
NM_007126.5(VCP):c.478G>C (p.Ala160Pro)	SNV Germline	Chr9:35065349	Conflicting classifications of pathogenicity	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia Inclusion body myopathy with Paget disease of bone and frontotemporal dementia Condition: not provided	Criteria Provided Conflicting Classifications	CA373289512	rs_1554668805	4 SubmittersRCV000639654 RCV001535609 RCV000993545
NM_015046.7(SETX):c.2124T>C (p.Ser708=)	SNV Germline	Chr9:132329474	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	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	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4 Inborn genetic diseases SETX-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA5298101	rs_747469176	4 SubmittersRCV000644809 RCV002422333 RCV004533372 RCV004723027
NM_015046.7(SETX):c.7660T>A (p.Phe2554Ile)	SNV Germline	Chr9:132264613	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	CA5296362	rs_368269464	4 SubmittersRCV000644827 RCV002388094 RCV003482289 RCV004533375
NM_015046.7(SETX):c.4683G>C (p.Gln1561His)	SNV Germline	Chr9:132326915	Conflicting classifications of pathogenicity	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4	Criteria Provided Conflicting Classifications	CA5297150	rs_772991134	2 SubmittersRCV000644811
NM_015046.7(SETX):c.2404A>G (p.Ser802Gly)	SNV Germline	Chr9:132329194	Conflicting classifications of pathogenicity	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4 Inborn genetic diseases SETX-related disorder	Criteria Provided Conflicting Classifications	CA375336078	rs_1400027699	3 SubmittersRCV000644823 RCV004025671 RCV004533373
NM_015046.7(SETX):c.2254A>G (p.Thr752Ala)	SNV Germline	Chr9:132329344	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	CA5297637	rs_745938575	3 SubmittersRCV000644812 RCV002473087 RCV003233769 RCV003233770
NM_015046.7(SETX):c.431A>G (p.Asn144Ser)	SNV Germline	Chr9:132342757	Conflicting classifications of pathogenicity	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4 Amyotrophic lateral sclerosis type 4 not specified Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5298042	rs_767453182	4 SubmittersRCV000644846 RCV001167588 RCV001288404 RCV001167587 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	5 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 Charcot-Marie-Tooth disease axonal type 2X Inborn genetic diseases Amyotrophic lateral sclerosis type 5 SPG11-related disorder	Criteria Provided Conflicting Classifications	CA7533946	rs_200276333	9 SubmittersRCV000642530 RCV001507872 RCV002467949 RCV002360574 RCV002467948 RCV004748877
NM_025137.4(SPG11):c.2857G>T (p.Glu953Ter)	SNV Germline	Chr15:44615544	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 11 Hereditary spastic paraplegia Condition: not provided Amyotrophic lateral sclerosis type 5 Hereditary spastic paraplegia 11 Charcot-Marie-Tooth disease axonal type 2X	Criteria Provided Multiple Submitters No Conflicts	CA7535116	rs_372906057	5 SubmittersRCV000642550 RCV002282282 RCV005000438 RCV005010624
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	Autosomal dominant mitochondrial myopathy with exercise intolerance Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 Lower motor neuron syndrome with late-adult onset 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 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Amyotrophic lateral sclerosis type 4 Hereditary spastic paraplegia Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5297582	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 Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	Criteria Provided Conflicting Classifications	CA5297900	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	CA410036643	rs_121912431	3 SubmittersRCV000664220
NM_025137.4(SPG11):c.6899T>G (p.Leu2300Arg)	SNV Germline	Chr15:44565954	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 type 5 not specified	Criteria Provided Conflicting Classifications	CA7533957	rs_371334506	4 SubmittersRCV000679859 RCV000806086 RCV002467985 RCV002467984 RCV005431870
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	CA7534559	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 Perry syndrome Neuronopathy, distal hereditary motor, type 7B Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA1721441	rs_145819459	4 SubmittersRCV000694263 RCV002458247 RCV001811448
NM_004082.5(DCTN1):c.446G>A (p.Arg149Gln)	SNV Germline	Chr2:74372935	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 1 Neuronopathy, distal hereditary motor, type 7B Perry syndrome Inborn genetic diseases DCTN1-related disorder not specified	Criteria Provided Conflicting Classifications	CA1722416	rs_149447433	4 SubmittersRCV000685358 RCV002331324 RCV004723063 RCV005436007
NM_004082.5(DCTN1):c.232T>C (p.Tyr78His)	SNV Germline	Chr2:74378047	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 1 Neuronopathy, distal hereditary motor, type 7B Perry syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA347321804	rs_1558948987	2 SubmittersRCV000707148 RCV005051823
NM_004082.5(DCTN1):c.2747G>A (p.Arg916Gln)	SNV Germline	Chr2:74366257	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 1 Perry syndrome Neuronopathy, distal hereditary motor, type 7B Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1721750	rs_375079576	2 SubmittersRCV000692480 RCV002440457
NM_004082.5(DCTN1):c.1997C>T (p.Thr666Met)	SNV Germline	Chr2:74367989	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 1 Perry syndrome Neuronopathy, distal hereditary motor, type 7B Condition: not provided Inborn genetic diseases DCTN1-related disorder	Criteria Provided Conflicting Classifications	CA1721993	rs_143914684	5 SubmittersRCV000688124 RCV001558947 RCV002422480 RCV003403590
NM_004082.5(DCTN1):c.2633A>G (p.Tyr878Cys)	SNV Germline	Chr2:74366371	Conflicting classifications of pathogenicity	Neuronopathy, distal hereditary motor, type 7B Perry syndrome Neuronopathy, distal hereditary motor, type 7B Amyotrophic lateral sclerosis type 1 Inborn genetic diseases Perry syndrome not specified	Criteria Provided Conflicting Classifications	CA1721780	rs_778201974	4 SubmittersRCV001139901 RCV000689468 RCV002458218 RCV001139900 RCV005240470
NM_004082.5(DCTN1):c.279+1G>T	SNV Germline	Chr2:74377999	Pathogenic/Likely pathogenic	Condition: not provided Hereditary motor neuron disease Amyotrophic lateral sclerosis type 1 Perry syndrome Neuronopathy, distal hereditary motor, type 7B	Criteria Provided Multiple Submitters No Conflicts	CA347321486	rs_1393363759	4 SubmittersRCV000991877 RCV001027493 RCV000685402
NM_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	CA375327288	rs_1445388214	4 SubmittersRCV000689471 RCV002473107 RCV004535715
NM_015046.7(SETX):c.1468G>A (p.Val490Ile)	SNV Germline	Chr9:132330130	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Condition: not provided Spastic ataxia Inborn genetic diseases Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	Criteria Provided Conflicting Classifications	CA5297771	rs_763545230	7 SubmittersRCV000700292 RCV000713198 RCV001644767 RCV002388306 RCV003233823 RCV003233822
NM_015046.7(SETX):c.1343A>G (p.Asp448Gly)	SNV Germline	Chr9:132330255	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	CA5297795	rs_370363342	4 SubmittersRCV000992929 RCV000695198 RCV002386213 RCV004733003
NM_005866.4(SIGMAR1):c.194T>A (p.Leu65Gln)	SNV Germline	Chr9:34637378	Pathogenic/Likely pathogenic	Amyotrophic lateral sclerosis type 16 Autosomal recessive distal spinal muscular atrophy 2 Amyotrophic lateral sclerosis type 16	Criteria Provided Multiple Submitters No Conflicts	CA5035928	rs_140376902	2 SubmittersRCV000697805 RCV002272335
NM_015046.7(SETX):c.7660T>C (p.Phe2554Leu)	SNV Germline	Chr9:132264613	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA5296363	rs_368269464	3 SubmittersRCV000689472 RCV002473108
NM_015046.7(SETX):c.1750C>G (p.Leu584Val)	SNV Germline	Chr9:132329848	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	Criteria Provided Conflicting Classifications	CA5297724	rs_764995848	4 SubmittersRCV000705240 RCV001759414 RCV002397476 RCV005367520
NM_005866.4(SIGMAR1):c.632G>A (p.Arg211Gln)	SNV Germline	Chr9:34635672	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 16 Autosomal recessive distal spinal muscular atrophy 2 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5035819	rs_192644838	2 SubmittersRCV000694694 RCV004025212
NM_007126.5(VCP):c.1194+3G>A	SNV Germline	Chr9:35061574	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	CA5039304	rs_183223259	6 SubmittersRCV000733640 RCV000685579 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	CA5297214	rs_747804357	2 SubmittersRCV000703290 RCV003140115
NM_015046.7(SETX):c.3823C>T (p.Arg1275Cys)	SNV Germline	Chr9:132327775	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 SETX-related disorder Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA5297321	rs_760272692	4 SubmittersRCV000699331 RCV004733006 RCV004669088 RCV005231288
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	CA5297425	rs_760535401	2 SubmittersRCV000688257 RCV002325367
NM_015046.7(SETX):c.1374T>G (p.Phe458Leu)	SNV Germline	Chr9:132330224	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	CA5297788	rs_201441886	6 SubmittersRCV000702549 RCV001167523 RCV001167524 RCV001662774 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 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia Frontotemporal dementia and/or amyotrophic lateral sclerosis 6	Criteria Provided Conflicting Classifications	CA373292088	rs_1563980403	2 SubmittersRCV001809749 RCV002233201
NM_025137.4(SPG11):c.7249G>A (p.Glu2417Lys)	SNV Germline	Chr15:44563204	Conflicting classifications of pathogenicity	Inborn genetic diseases Hereditary spastic paraplegia 11 Condition: not provided Amyotrophic lateral sclerosis type 5 Charcot-Marie-Tooth disease axonal type 2X	Criteria Provided Conflicting Classifications	CA7533841	rs_371313584	4 SubmittersRCV002369821 RCV000685566 RCV001584551 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 Condition: not provided	Criteria Provided Conflicting Classifications	CA6669199	rs_144370662	3 SubmittersRCV000704095 RCV003980319 RCV004692186
NM_025137.4(SPG11):c.763A>G (p.Lys255Glu)	SNV Germline	Chr15:44657201	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	CA7535727	rs_139091750	4 SubmittersRCV000696904 RCV002388274 RCV001799700 RCV002468012 RCV002468013
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 not specified	Criteria Provided Conflicting Classifications	CA5297133	rs_749891883	6 SubmittersRCV000696941 RCV002334326 RCV002473117 RCV005240484
NM_015046.7(SETX):c.263A>G (p.Tyr88Cys)	SNV Germline	Chr9:132346386	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5298093	rs_149276791	2 SubmittersRCV000698387 RCV004659180
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 Charcot-Marie-Tooth disease axonal type 2X Amyotrophic lateral sclerosis type 5	Criteria Provided Conflicting Classifications	CA7534436	rs_139423939	5 SubmittersRCV000686533 RCV000995317 RCV002343435 RCV002468000 RCV002467999
NM_025137.4(SPG11):c.5969A>G (p.Tyr1990Cys)	SNV Germline	Chr15:44574939	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 11 Inborn genetic diseases Condition: not provided Amyotrophic lateral sclerosis type 5 Hereditary spastic paraplegia 11 Charcot-Marie-Tooth disease axonal type 2X	Criteria Provided Conflicting Classifications	CA7534300	rs_199920965	5 SubmittersRCV000685460 RCV002352108 RCV004768553 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 Condition: not provided Charcot-Marie-Tooth disease axonal type 2X Amyotrophic lateral sclerosis type 5	Criteria Provided Conflicting Classifications	CA7534402	rs_752401008	7 SubmittersRCV000692442 RCV000765211 RCV003223668 RCV002468006 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	CA410036675	rs_1568809149	3 SubmittersRCV000697630
NM_004738.5(VAPB):c.58+5G>A	SNV Germline	Chr20:58389522	Conflicting classifications of pathogenicity	Adult-onset proximal spinal muscular atrophy, autosomal dominant Amyotrophic lateral sclerosis type 8 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9924145	rs_753611165	2 SubmittersRCV002254568 RCV002352159
NM_025137.4(SPG11):c.6598A>T (p.Lys2200Ter)	SNV Germline	Chr15:44567580	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 11 SPG11-related disorder Condition: not provided Hereditary spastic paraplegia Amyotrophic lateral sclerosis type 5 Hereditary spastic paraplegia 11 Charcot-Marie-Tooth disease axonal type 2X Early-onset Parkinson disease 20 Charcot-Marie-Tooth disease axonal type 2X	Criteria Provided Multiple Submitters No Conflicts	CA7534064	rs_141263564	10 SubmittersRCV000694024 RCV003411614 RCV004792389 RCV001849059 RCV003883160 RCV003447554 RCV004768574
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 Condition: not provided	Criteria Provided Conflicting Classifications	CA410915171	rs_1252496774	3 SubmittersRCV000688111 RCV002440432 RCV004692092
NM_000454.5(SOD1):c.301G>A (p.Glu101Lys)	SNV Germline	Chr21:31667319	Pathogenic/Likely pathogenic	Condition: not provided Amyotrophic lateral sclerosis Amyotrophic lateral sclerosis type 1	Criteria Provided Multiple Submitters No Conflicts	CA410037495	rs_76731700	3 SubmittersRCV000713400 RCV001843542 RCV000696225
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 Lower motor neuron syndrome with late-adult onset Autosomal dominant mitochondrial myopathy with exercise intolerance Condition: not provided	Criteria Provided Conflicting Classifications	CA10145261	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	CA410037429	rs_1568810660	3 SubmittersRCV000687912 RCV000713398
NM_007375.4(TARDBP):c.669C>G (p.Pro223=)	SNV Germline	Chr1:11020554	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 10 FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED Condition: not provided Amyotrophic lateral sclerosis type 10 Inborn genetic diseases TARDBP-related disorder	Criteria Provided Conflicting Classifications	CA586412	rs_149517613	6 SubmittersRCV001467552 RCV000713824 RCV001101666 RCV003303206 RCV003965466
NM_003900.5(SQSTM1):c.185G>T (p.Gly62Val)	SNV Germline	Chr5:179821121	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	CA3600384	rs_774355338	3 SubmittersRCV000713545 RCV001422461
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	CA375325052	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	CA5296777	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	CA5296939	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	CA5297156	rs_764920626	4 SubmittersRCV000713215 RCV001165734 RCV001169728 RCV001861986 RCV001849076
NM_015046.7(SETX):c.4600G>C (p.Asp1534His)	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	CA5297170	rs_746807833	2 SubmittersRCV000713214 RCV005223137
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	CA5297296	rs_144900653	6 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 SETX-related disorder not specified Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5297538	rs_376022544	7 SubmittersRCV000713201 RCV001042487 RCV004535770 RCV002265868 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 SETX-related disorder	Criteria Provided Conflicting Classifications	CA5297651	rs_377734748	7 SubmittersRCV000713200 RCV001232643 RCV002424738 RCV003233835 RCV003233836 RCV004733014
NM_015046.7(SETX):c.1754A>G (p.Gln585Arg)	SNV Germline	Chr9:132329844	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	CA5297723	rs_188247474	4 SubmittersRCV000713199 RCV002397497 RCV002532950
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	CA410036027	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	CA410037766	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 SOD1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA410037797	rs_1482760341	8 SubmittersRCV000713407 RCV000808273 RCV004745565
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	CA373293400	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	CA5039174	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 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	CA464602374	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	CA5039286	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 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	CA464403788	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	CA373293355	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 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	CA5039496	rs_549915384	5 SubmittersRCV000733637 RCV000801185 RCV002332532 RCV004535869
NM_001753.5(CAV1):c.54C>G (p.Ile18Met)	SNV Germline	Chr7:116526548	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Amyotrophic lateral sclerosis	Criteria Provided Conflicting Classifications	CA4447819	rs_150051547	3 SubmittersRCV000757056 RCV002536563 RCV005357983

NM_025137.4(SPG11):c.6100C>T (p.Arg2034Ter)

SNV
Germline

Chr15:44573652

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA249690

rs_118203963

14 SubmittersRCV000001168 RCV000202373 RCV000414837 RCV000518418 RCV002354145 RCV005007805

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
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA249693

rs_267607084

4 SubmittersRCV000001170 RCV000202382 RCV000193032 RCV005416315

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

SNV
Germline

Chr15:44584057

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA339870

rs_141848292

14 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
Amyotrophic lateral sclerosis type 11
Charcot-Marie-Tooth disease type 4
Amyotrophic lateral sclerosis
Charcot-Marie-Tooth disease type 4J
Yunis-Varon syndrome
Yunis-Varon syndrome
Bilateral parasagittal parieto-occipital polymicrogyria
Inborn genetic diseases
FIG4-related disorder
Bilateral parasagittal parieto-occipital polymicrogyria
Amyotrophic lateral sclerosis type 11
Charcot-Marie-Tooth disease type 4J
Yunis-Varon syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA233088

rs_121908287

40 SubmittersRCV000001791 RCV000143812 RCV000416487 RCV000476702 RCV001095515 RCV001535566 RCV001270162 RCV001330564 RCV002362551 RCV003952336 RCV005394105

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

Criteria Provided
Multiple Submitters
No Conflicts

CA251931

rs_121908288

7 SubmittersRCV000001796 RCV000001793 RCV000235305 RCV001095516 RCV001046714 RCV003944790

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
Multiple Submitters
No Conflicts

CA252185

rs_28941475

6 SubmittersRCV000002380 RCV000414273 RCV000789614

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

SNV
Germline

Chr9:132283403

Likely pathogenic

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

Criteria Provided
Single Submitter

CA252187

rs_121434378

4 SubmittersRCV000002381 RCV000789616 RCV005051731

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

Criteria Provided
Multiple Submitters
No Conflicts

CA117096

rs_74315431

7 SubmittersRCV000005073 RCV000059635 RCV002254542 RCV002254541

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
Amyotrophic lateral sclerosis type 10
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
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
Amyotrophic lateral sclerosis type 10
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
TARDBP-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA340375

rs_4884357

6 SubmittersRCV000005543 RCV000713825 RCV001851670 RCV004754243

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
Amyotrophic lateral sclerosis type 10
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED

Criteria Provided
Multiple Submitters
No Conflicts

CA340379

rs_80356733

7 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
Amyotrophic lateral sclerosis type 10
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA340381

rs_80356726

6 SubmittersRCV000005547 RCV001384596 RCV004546411

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

SNV
Germline

Chr16:50796443

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA214928

rs_121908390

5 SubmittersRCV000005573 RCV000005574 RCV000005575 RCV002496269 RCV005089180

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

Criteria Provided
Conflicting Classifications

CA118630

rs_75654767

9 SubmittersRCV000007515 RCV000356568 RCV000559186 RCV001289042 RCV001610287 RCV000301689 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
Condition: not provided
Paget disease of bone 3
Frontotemporal dementia and/or amyotrophic lateral sclerosis 3
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
Bone Paget disease

Criteria Provided
Conflicting Classifications

CA203866

rs_104893941

15 SubmittersRCV000008576 RCV000184063 RCV000490214 RCV000477939 RCV000824803 RCV002508916 RCV001084507 RCV005249984

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

SNV
Germline

Chr5:179833783

Pathogenic

Paget disease of bone 3
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
Paget disease of bone 2, early-onset
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
Hereditary motor neuron disease
Perry syndrome
Neuronopathy, distal hereditary motor, type 7B
Amyotrophic lateral sclerosis type 1
Perry syndrome

Criteria Provided
Single Submitter

CA340781

rs_121909342

4 SubmittersRCV000008909 RCV000789086 RCV000644484 RCV003447080

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

SNV
Germline

Chr2:74366896

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA119587

rs_121909344

13 SubmittersRCV000008912 RCV000644476 RCV001572734 RCV000144867 RCV000986781 RCV001140673 RCV001140674 RCV002444424 RCV003952351

NM_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

12 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

8 SubmittersRCV000008990 RCV000372207 RCV000685660 RCV001095424

NM_007126.5(VCP):c.283C>G (p.Arg95Gly)

SNV
Germline

Chr9:35067910

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

Criteria Provided
Single Submitter

CA254402

rs_121909332

2 SubmittersRCV000008992 RCV005222674

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

Criteria Provided
Multiple Submitters
No Conflicts

CA254406

rs_121909334

13 SubmittersRCV000008994 RCV000023064 RCV000555373 RCV002496309 RCV000516636

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

14 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

5 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

8 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
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA257321

rs_121912440

4 SubmittersRCV000015879 RCV003390685 RCV004791222

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

SNV
Germline

Chr21:31667274

Pathogenic

Amyotrophic lateral sclerosis type 1
SOD1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA257323

rs_121912436

4 SubmittersRCV000015880 RCV004745157

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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA257335

rs_121912443

7 SubmittersRCV000015886 RCV000281824 RCV001843454 RCV004745158

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

SNV
Germline

Chr21:31659782

Pathogenic

Amyotrophic lateral sclerosis type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA257337

rs_121912444

4 SubmittersRCV000015887 RCV000518527

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
not specified

Criteria Provided
Conflicting Classifications

CA124296

rs_80265967

20 SubmittersRCV000015888 RCV000015889 RCV000713399 RCV001843455 RCV003415711 RCV005434603

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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA257339

rs_121912446

8 SubmittersRCV000015891 RCV000516860 RCV004745159

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

Pathogenic/Likely pathogenic

Amyotrophic lateral sclerosis type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA637247607

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

CA9998975

rs_369600566

1 SubmittersRCV000015901

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

SNV
Germline

Chr21:31659806

Likely pathogenic

Amyotrophic lateral sclerosis type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA257360

rs_121912456

3 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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA257437

rs_121909668

5 SubmittersRCV000017609 RCV000703284 RCV002472932 RCV003421921

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

SNV
Germline

Chr16:31191410

Pathogenic

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

Criteria Provided
Single Submitter

CA257439

rs_121909669

2 SubmittersRCV000017610 RCV005222688

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

SNV
Germline

Chr16:31191418

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA257441

rs_121909668

8 SubmittersRCV000017611 RCV001851894 RCV001701569 RCV004745160

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

SNV
Germline

Chr16:31191419

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA257443

rs_121909671

5 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
Amyotrophic lateral sclerosis type 6
Tremor, hereditary essential, 4
FUS-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA130062

rs_267606832

5 SubmittersRCV000017614 RCV000030719 RCV001588814 RCV002513082 RCV004745162 RCV002247351

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

FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
Amyotrophic lateral sclerosis type 10

Criteria Provided
Single Submitter

CA17876327

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
Amyotrophic lateral sclerosis type 10
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
TARDBP-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA17876354

rs_80356734

9 SubmittersRCV000020657 RCV000993301 RCV001851975 RCV004754269

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
Amyotrophic lateral sclerosis type 10
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
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

Amyotrophic lateral sclerosis type 10
Condition: not provided
Amyotrophic lateral sclerosis type 10
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
See cases
TARDBP-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA586493

rs_80356740

12 SubmittersRCV000995885 RCV001579671 RCV001851976 RCV002251918 RCV004754270

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

SNV
Germline

Chr1:11022577

Conflicting classifications of pathogenicity

Condition: not provided
TARDBP-related disorder
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
Amyotrophic lateral sclerosis type 10

Criteria Provided
Conflicting Classifications

CA586494

rs_80356741

3 SubmittersRCV001570554 RCV003407351 RCV003764614

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

SNV
Germline

Chr1:11022578

Conflicting classifications of pathogenicity

Condition: not provided
Amyotrophic lateral sclerosis type 10
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA586495

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
Amyotrophic lateral sclerosis type 10
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
Condition: not provided
Inborn genetic diseases
TARDBP-related disorder
Parkinsonian disorder

Criteria Provided
Conflicting Classifications

CA586343

rs_80356715

9 SubmittersRCV000020670 RCV000821536 RCV001311624 RCV002426513 RCV003924849 RCV005624702

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

SNV
Germline

Chr1:11022209

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 10
Amyotrophic lateral sclerosis type 10
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
Inborn genetic diseases
TARDBP-related disorder
Condition: not provided
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED

Criteria Provided
Conflicting Classifications

CA586454

rs_80356718

8 SubmittersRCV000020671 RCV001851977 RCV003242964 RCV003904854 RCV004546414 RCV004821261

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

SNV
Germline

Chr1:11022268

Pathogenic/Likely pathogenic

Amyotrophic lateral sclerosis type 10
Condition: not provided
Amyotrophic lateral sclerosis type 10
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
Motor neuron disease
TARDBP-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA586459

rs_80356719

7 SubmittersRCV000020672 RCV000412864 RCV000529539 RCV000492328 RCV004754271

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

SNV
Germline

Chr1:11022292

Pathogenic

Amyotrophic lateral sclerosis type 10
Amyotrophic lateral sclerosis type 10
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED

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
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
Amyotrophic lateral sclerosis type 10

Criteria Provided
Conflicting Classifications

CA17876173

rs_80356723

2 SubmittersRCV002474373 RCV002569399

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

SNV
Germline

Chr1:11022340

Likely pathogenic

FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
Amyotrophic lateral sclerosis type 10
Condition: not provided
Amyotrophic lateral sclerosis type 10
TARDBP-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA17876210

rs_80356725

4 SubmittersRCV000694078 RCV003311663 RCV003334377 RCV004754273

NM_015046.7(SETX):c.3880C>T (p.Arg1294Cys)

SNV
Germline

Chr9:132327718

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA027386

rs_267607044

3 SubmittersRCV000790202 RCV001755758 RCV005222984

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

SNV
Germline

Chr16:31191052

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA259631

rs_387906627

4 SubmittersRCV000022556 RCV003764624 RCV002247377

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

Criteria Provided
Single Submitter

CA259707

rs_387906711

2 SubmittersRCV000022844

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

SNV
Germline

ChrX:56565446

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA259711

rs_369947678

8 SubmittersRCV000022846 RCV003944836 RCV000625776 RCV003441723

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

Criteria Provided
Multiple Submitters
No Conflicts

CA259767

rs_387906829

3 SubmittersRCV000023162 RCV002444439 RCV001852015

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

Condition: not provided
PFN1-related disorder
Amyotrophic lateral sclerosis type 18

Criteria Provided
Single Submitter

CA260576

rs_387907265

3 SubmittersRCV001852610 RCV004755752 RCV000030695

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

SNV
Germline

Chr17:4945970

Pathogenic

Amyotrophic lateral sclerosis type 18
Condition: not provided

Criteria Provided
Single Submitter

CA260577

rs_387907266

2 SubmittersRCV000030696 RCV005089324

NM_005022.4(PFN1):c.350A>G (p.Glu117Gly)

SNV
Germline

Chr17:4945973

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 18
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA260578

rs_140547520

4 SubmittersRCV000030697 RCV002247400 RCV005243103

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

SNV
Germline

Chr16:31190398

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA130060

rs_186547381

9 SubmittersRCV000030718 RCV000711709 RCV000765290 RCV001847624 RCV002381274 RCV003993752 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.1235C>G (p.Ser412Ter)

SNV
Germline

Chr15:44651712

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA344293

rs_312262723

7 SubmittersRCV000034170 RCV005007926

NM_025137.4(SPG11):c.1457-2A>G

SNV
Germline

Chr15:44649013

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA344297

rs_312262726

5 SubmittersRCV000034173 RCV001847631 RCV005007927

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

Criteria Provided
Multiple Submitters
No Conflicts

CA277361

rs_312262709

10 SubmittersRCV000034195 RCV000194703 RCV001569808 RCV003883485 RCV005007929

NM_025137.4(SPG11):c.2833A>G (p.Arg945Gly)

SNV
Germline

Chr15:44620191

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA344327

rs_312262748

3 SubmittersRCV000034199 RCV005007931

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

SNV
Germline

Chr15:44620189

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA344329

rs_312262749

8 SubmittersRCV000034200 RCV005007932 RCV001836722 RCV003458191

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

SNV
Germline

Chr15:44574934

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA277266

rs_200793464

4 SubmittersRCV000255514 RCV000194146 RCV000034234

NM_025137.4(SPG11):c.5977C>T (p.Gln1993Ter)

SNV
Germline

Chr15:44574931

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA344365

rs_312262774

3 SubmittersRCV000034235 RCV005600627 RCV005007933

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
SPG11-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA344370

rs_147713329

12 SubmittersRCV000034241 RCV001331384 RCV001092496 RCV001847636 RCV005229845

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

SNV
Germline

Chr15:44573595

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA344372

rs_149003934

7 SubmittersRCV000034242 RCV000594035 RCV002467534 RCV002477051 RCV002467533

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

SNV
Germline

Chr15:44570521

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA344377

rs_312262780

6 SubmittersRCV001847637 RCV000034246 RCV002467536 RCV002467535

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

SNV
Germline

Chr16:89546737

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA090884

rs_61755320

65 SubmittersRCV000034858 RCV000195683 RCV000270813 RCV000515835 RCV000623796 RCV000626837 RCV000677252 RCV000850200 RCV001003619 RCV002463623 RCV003421943 RCV004814935 RCV005624722

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
Amyotrophic lateral sclerosis type 10
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions

Criteria Provided
Multiple Submitters
No Conflicts

CA225327

rs_63751180

10 SubmittersRCV000084480 RCV001390599 RCV002463638 RCV000995559

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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA236114

rs_587777132

3 SubmittersRCV000087053 RCV000171328 RCV001095478

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

6 SubmittersRCV000128857 RCV000192232 RCV001268565

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

SNV
Germline

Chr9:132330094

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease
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

CA233090

rs_534723946

8 SubmittersRCV000143813 RCV000790203 RCV000791025 RCV001523409 RCV000626102

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

8 SubmittersRCV000143814 RCV000794428 RCV002408640 RCV004544322

NM_015046.7(SETX):c.3968G>A (p.Arg1323Gln)

SNV
Germline

Chr9:132327630

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Inborn genetic diseases
SETX-related disorder
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

CA233096

rs_369542231

7 SubmittersRCV000143815 RCV000517014 RCV002371981 RCV004532620 RCV003233112 RCV003233113 RCV005213210

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

SNV
Germline

Chr9:132327373

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Charcot-Marie-Tooth disease
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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA233099

rs_373375060

9 SubmittersRCV000143816 RCV001002069 RCV000790204 RCV000988270 RCV001167322 RCV001041860 RCV004532621 RCV002326848

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

Criteria Provided
Conflicting Classifications

CA233102

rs_534886444

11 SubmittersRCV000143817 RCV000790205 RCV000988269 RCV001049421 RCV002326849 RCV005406843

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

Criteria Provided
Conflicting Classifications

CA233108

rs_151117904

14 SubmittersRCV000143819 RCV000251546 RCV000302102 RCV000393538 RCV001080640 RCV001260210 RCV001847770

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

SNV
Germline

Chr9:132327789

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
SETX-related disorder

Criteria Provided
Conflicting Classifications

CA048312

rs_144334281

11 SubmittersRCV000329054 RCV000385882 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.1147G>A (p.Ala383Thr)

SNV
Germline

Chr2:219250552

Likely pathogenic

Amyotrophic lateral sclerosis type 22

Criteria Provided
Single Submitter

CA185904

rs_368743618

2 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/Likely 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

5 SubmittersRCV000157069 RCV001731147 RCV000804540 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
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED

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

5 SubmittersRCV000171347 RCV000514140 RCV002254543

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

SNV
Germline

Chr15:44615364

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA201295

rs_111347025

14 SubmittersRCV000175101 RCV001260215 RCV002262769 RCV000204165 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
Spastic tetraplegia and axial hypotonia, progressive

Criteria Provided
Multiple Submitters
No Conflicts

CA275244

rs_121912441

14 SubmittersRCV000178103 RCV000255754 RCV000492500 RCV003398894 RCV004767120

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
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
Paget disease of bone 2, early-onset
SQSTM1-related disorder

Criteria Provided
Conflicting Classifications

CA203868

rs_776749939

4 SubmittersRCV000184065 RCV000481808 RCV001323701 RCV004734809

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

SNV
Germline

Chr15:44651677

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA275497

rs_141596008

7 SubmittersRCV000185539 RCV001508762 RCV002467649 RCV002467650 RCV001847822 RCV002372141

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

Criteria Provided
Single Submitter

CA6669037

rs_767898276

2 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
Condition: not provided
Lower motor neuron syndrome with late-adult onset
Amyotrophic lateral sclerosis
Inborn genetic diseases
CHCHD10-related disorder

Criteria Provided
Conflicting Classifications

CA347297

rs_775332895

8 SubmittersRCV000192233 RCV000558062 RCV001092755 RCV000990378 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
Amyotrophic lateral sclerosis, susceptibility to, 24
Short-rib thoracic dysplasia 6 with or without polydactyly
NEK1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA210638

rs_199947197

13 SubmittersRCV000190609 RCV000585742 RCV000519626 RCV000763117 RCV003947589

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

SNV
Germline

Chr14:96860628

Pathogenic/Likely pathogenic

Pontocerebellar hypoplasia type 1A
Condition: not provided
Juvenile amyotrophic lateral sclerosis
Pontocerebellar hypoplasia type 1A
Neuronopathy, distal hereditary motor, autosomal recessive 10

Criteria Provided
Multiple Submitters
No Conflicts

CA250406

rs_772731615

6 SubmittersRCV000191144 RCV001705076 RCV001095537 RCV005008124

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

Criteria Provided
Conflicting Classifications

CA337736

rs_150571352

9 SubmittersRCV000198221 RCV000609376 RCV001252105 RCV001331387 RCV002363018 RCV001847903 RCV005008134 RCV004696869

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

SNV
Germline

Chr15:44663632

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA337596

rs_200573434

11 SubmittersRCV001260214 RCV001336692 RCV001086819 RCV000713414 RCV001847902 RCV003917821 RCV002399751

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

CA056518

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

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

Criteria Provided
Conflicting Classifications

CA350373

rs_79708848

11 SubmittersRCV000444113 RCV000206327 RCV001260213 RCV001847925

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

SNV
Germline

Chr15:44566301

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7534007

rs_141818132

11 SubmittersRCV000224214 RCV001085256 RCV001260212 RCV001847948 RCV002365166 RCV003919902

NM_025137.4(SPG11):c.1621C>T (p.Gln541Ter)

SNV
Germline

Chr15:44633619

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA7535486

rs_765061840

6 SubmittersRCV000224985 RCV000757917 RCV001565198 RCV005008177

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

Criteria Provided
Conflicting Classifications

CA2058513

rs_190369242

8 SubmittersRCV000512695 RCV000516346 RCV000764355 RCV001082210 RCV001139424 RCV001137184 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
Charcot-Marie-Tooth disease axonal type 2X
Amyotrophic lateral sclerosis type 5
not specified

Criteria Provided
Conflicting Classifications

CA7535513

rs_201535432

4 SubmittersRCV000230118 RCV002261019 RCV002467687 RCV002467686 RCV005238771

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
Neuropathy, hereditary sensory and autonomic, type 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA10584304

rs_879254294

3 SubmittersRCV000236861 RCV003223342 RCV004594033

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

Criteria Provided
Conflicting Classifications

CA3600374

rs_200396166

6 SubmittersRCV000184066 RCV001155398 RCV001636735 RCV002518539 RCV003387820 RCV000652548

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

SNV
Germline

Chr2:201746756

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2058339

rs_185911369

10 SubmittersRCV000251509 RCV000349374 RCV000710520 RCV001087893 RCV000400905 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
TIA1-related disorder
Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia

Criteria Provided
Conflicting Classifications

CA1697407

rs_116621885

7 SubmittersRCV000250393 RCV000516506 RCV000859341 RCV003891965 RCV003989508

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

Criteria Provided
Conflicting Classifications

CA3600727

rs_139482113

10 SubmittersRCV000242491 RCV000625252 RCV000535702 RCV001576573 RCV001154682

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

SNV
Germline

Chr6:109766721

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3956144

rs_199522051

8 SubmittersRCV000254421 RCV000275273 RCV000711651 RCV001173270 RCV000470402 RCV001094996

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

Criteria Provided
Conflicting Classifications

CA5297423

rs_142020270

12 SubmittersRCV000252372 RCV001085624 RCV002321932 RCV001311796 RCV001848032

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

SNV
Germline

Chr9:132328623

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
Hereditary spastic paraplegia
Spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5297507

rs_61742937

14 SubmittersRCV000250229 RCV000541126 RCV001168778 RCV000387370 RCV001848031 RCV001391479 RCV001706351

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

SNV
Germline

Chr10:13112572

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5410636

rs_113811959

9 SubmittersRCV000249241 RCV000365950 RCV000311095 RCV001079510 RCV000635241

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

SNV
Germline

ChrX:56565334

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10430171

rs_45559331

10 SubmittersRCV000241665 RCV000547371 RCV000399814 RCV001079580

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

SNV
Germline

Chr5:179823038

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10588825

rs_886039782

4 SubmittersRCV000256198 RCV001062487

NM_001199397.3(NEK1):c.1789T>A (p.Phe597Ile)

SNV
Germline

Chr4:169508292

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3137633

rs_776098853

4 SubmittersRCV000321359 RCV000492300 RCV003635907 RCV005409642

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
not specified

Criteria Provided
Conflicting Classifications

CA3137845

rs_372585344

8 SubmittersRCV000280217 RCV000492702 RCV000659005 RCV002518774 RCV003409388 RCV005434754

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

SNV
Germline

Chr10:13124053

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5410811

rs_142812715

5 SubmittersRCV000492386 RCV000557693 RCV002059063 RCV002374436

NM_001008212.2(OPTN):c.1403T>G (p.Met468Arg)

SNV
Germline

Chr10:13132068

Conflicting classifications of pathogenicity

Motor neuron disease
Primary open angle glaucoma
Amyotrophic lateral sclerosis type 12
Glaucoma 1, open angle, E

Criteria Provided
Conflicting Classifications

CA203270133

rs_747481280

2 SubmittersRCV000492219 RCV005222861

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

SNV
Germline

Chr12:64466994

Conflicting classifications of pathogenicity

TBK1-related disorder
not specified
Motor neuron disease
Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8
Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
Autoinflammation with arthritis and vasculitis
Frontotemporal dementia and/or amyotrophic lateral sclerosis 4

Criteria Provided
Conflicting Classifications

CA6668820

rs_55824172

5 SubmittersRCV004745316 RCV005238811 RCV000492091 RCV005396861 RCV001855019

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

SNV
Germline

Chr12:64481858

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA238264724

rs_905184241

3 SubmittersRCV000492371 RCV000520272 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
Trichoepithelioma, multiple familial, 1
Familial cylindromatosis
Brooke-Spiegler syndrome
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8
Trichoepithelioma, multiple familial, 1
Familial cylindromatosis
Brooke-Spiegler syndrome
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8

Criteria Provided
Multiple Submitters
No Conflicts

CA10590069

rs_886040872

6 SubmittersRCV000257976 RCV000760471 RCV001814137 RCV005016661 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
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

CA5039453

rs_387906789

6 SubmittersRCV000333881 RCV002229732 RCV001095425

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

SNV
Germline

Chr9:132326782

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

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
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
VCP-related disorder
Spastic paraplegia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10603200

rs_121909332

10 SubmittersRCV000280148 RCV000761344 RCV001095441 RCV004556775 RCV001215048 RCV004734912 RCV001391611 RCV002436094

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

SNV
Germline

Chr16:31191431

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10603390

rs_886041390

7 SubmittersRCV001069729 RCV001095439 RCV000381069 RCV003401225

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

SNV
Germline

Chr2:74376741

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1722488

rs_576198476

5 SubmittersRCV000332896 RCV000765701 RCV002252080 RCV002328763

NM_001199397.3(NEK1):c.2361G>A (p.Lys787=)

SNV
Germline

Chr4:169477197

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10604270

rs_886042457

3 SubmittersRCV000348892 RCV002494827 RCV005090343

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
VCP-related disorder
not specified
Inborn genetic diseases
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
Conflicting Classifications

CA5039215

rs_147623367

13 SubmittersRCV000321351 RCV001168925 RCV004535294 RCV001580089 RCV002401981 RCV001081085 RCV001168167

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

SNV
Germline

Chr15:44660558

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7535871

rs_201842512

6 SubmittersRCV000296854 RCV000692595 RCV002467713 RCV002467714 RCV002321952

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

SNV
Germline

Chr9:35057113

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5039057

rs_201091341

9 SubmittersRCV000301970 RCV000291446 RCV000376145 RCV001559813 RCV001252622

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

SNV
Germline

Chr15:44652157

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7535662

rs_146109825

6 SubmittersRCV000259263 RCV000811912 RCV002467716 RCV004586659 RCV002379128 RCV002467715

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

5 SubmittersRCV000321789 RCV001222571 RCV002519195

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

SNV
Germline

Chr9:132329718

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
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

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

Criteria Provided
Conflicting Classifications

CA2058054

rs_375742430

4 SubmittersRCV000361538 RCV000316456 RCV000703570 RCV005355653 RCV001848676

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

SNV
Germline

Chr2:201733377

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2058171

rs_202219507

9 SubmittersRCV000328276 RCV000414980 RCV000813075 RCV001289224 RCV001580056 RCV001848678 RCV000382737 RCV001358657

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
Amyotrophic lateral sclerosis
Infantile-onset ascending hereditary spastic paralysis
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA2057955

rs_200706696

6 SubmittersRCV000261194 RCV000355910 RCV000515815 RCV001260560 RCV000863616 RCV001590976 RCV004999329

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
Condition: not provided
Infantile-onset ascending hereditary spastic paralysis
not specified

Criteria Provided
Conflicting Classifications

CA2057570

rs_200202953

5 SubmittersRCV000276464 RCV000370877 RCV001571366 RCV000862055 RCV001289226

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

SNV
Germline

Chr2:74370333

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10613975

rs_886056332

4 SubmittersRCV000296007 RCV000387824 RCV002450911 RCV002519986 RCV004745346

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

SNV
Germline

Chr2:74366251

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1721748

rs_771075973

3 SubmittersRCV000269835 RCV000327510 RCV001861154 RCV002523140

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

SNV
Germline

Chr2:74367984

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1721991

rs_764443534

6 SubmittersRCV000308445 RCV000696804 RCV000392721 RCV003969969 RCV002418203 RCV005230266

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

SNV
Germline

Chr2:74370344

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1722228

rs_570863800

3 SubmittersRCV000343892 RCV000399184 RCV000699176 RCV002519987

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

SNV
Germline

Chr2:74371596

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1722375

rs_55862001

11 SubmittersRCV000333493 RCV000380851 RCV000507449 RCV000541293 RCV001084399 RCV001260196

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

SNV
Germline

Chr2:74361577

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10615998

rs_886056328

3 SubmittersRCV000298235 RCV000353157 RCV002348089 RCV000704940

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

SNV
Germline

Chr2:74363641

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1721587

rs_374049568

4 SubmittersRCV000311315 RCV000392129 RCV002057711 RCV005230265 RCV005238924

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

SNV
Germline

Chr2:74378219

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1722613

rs_150204862

5 SubmittersRCV000288698 RCV000327299 RCV000555240 RCV001088611 RCV003969970 RCV002356469

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

SNV
Germline

Chr2:74367083

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1721887

rs_754780894

6 SubmittersRCV000278941 RCV000336449 RCV000555724 RCV000997172 RCV000517874 RCV002446597 RCV003418060

NM_001199397.3(NEK1):c.642G>A (p.Lys214=)

SNV
Germline

Chr4:169585514

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3137980

rs_369725706

3 SubmittersRCV000361438 RCV005027459

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
Condition: not provided
MATR3-related disorder

Criteria Provided
Conflicting Classifications

CA3433486

rs_201165929

5 SubmittersRCV000703755 RCV005411416 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
FIG4-related disorder

Criteria Provided
Conflicting Classifications

CA3955715

rs_200257799

3 SubmittersRCV000291963 RCV000346970 RCV001449133 RCV004742397

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

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

Criteria Provided
Single Submitter

CA3955720

rs_753207473

3 SubmittersRCV001729560 RCV001861266 RCV000987758

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 type 4J
Charcot-Marie-Tooth disease
FIG4-related disorder

Criteria Provided
Conflicting Classifications

CA3956032

rs_201293291

4 SubmittersRCV000260196 RCV000654276 RCV001095131 RCV001173514 RCV004742398

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 type 4
Charcot-Marie-Tooth disease type 4J
Charcot-Marie-Tooth disease
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3956195

rs_201744761

8 SubmittersRCV000381459 RCV000604481 RCV000545092 RCV001094997 RCV001173281 RCV001706587 RCV004619276

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

Criteria Provided
Conflicting Classifications

CA5297024

rs_139063885

6 SubmittersRCV000284631 RCV000376752 RCV001080441 RCV001643106 RCV003422370 RCV001848725

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

Criteria Provided
Conflicting Classifications

CA5297452

rs_374091487

5 SubmittersRCV000304137 RCV000393561 RCV001810866 RCV002323570 RCV002523743

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

SNV
Germline

Chr9:132329129

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

CA5297588

rs_141163823

3 SubmittersRCV000375508 RCV000337733 RCV001662354 RCV001509826

NM_015046.7(SETX):c.2295C>A (p.Phe765Leu)

SNV
Germline

Chr9:132329303

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

CA5297624

rs_771954896

3 SubmittersRCV000283365 RCV000340751 RCV004696117 RCV005209504

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
Condition: not provided
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

CA5296299

rs_553413088

4 SubmittersRCV000299852 RCV001662350 RCV000359404 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
Condition: not provided
Hereditary spastic paraplegia
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5296347

rs_34000644

10 SubmittersRCV000300843 RCV000337112 RCV000556745 RCV001643105 RCV001848723 RCV000507046 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
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
SETX-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5296643

rs_200382898

4 SubmittersRCV000281744 RCV000339149 RCV003766100 RCV004530477 RCV002365438

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

Criteria Provided
Conflicting Classifications

CA10629236

rs_886063554

4 SubmittersRCV000289144 RCV000381150 RCV002356500 RCV003766101 RCV002472997

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
not specified
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

CA10629238

rs_886063555

4 SubmittersRCV000307504 RCV000518443 RCV000364537 RCV001243853 RCV005268601

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

Criteria Provided
Conflicting Classifications

CA5297553

rs_148181729

8 SubmittersRCV000280363 RCV000644850 RCV000789558 RCV000372562 RCV001079301 RCV001848726 RCV004732864

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

Criteria Provided
Conflicting Classifications

CA5297681

rs_780898043

5 SubmittersRCV000344541 RCV000390382 RCV000803584 RCV005625570 RCV004689725

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

SNV
Germline

Chr9:132349420

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5298155

rs_139681694

2 SubmittersRCV000284093 RCV000378423 RCV002379258

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

SNV
Germline

Chr10:13112527

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5410625

rs_780011442

3 SubmittersRCV000314652 RCV000402060 RCV002059530 RCV002328800

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

Criteria Provided
Conflicting Classifications

CA5296290

rs_80296256

9 SubmittersRCV000263441 RCV000353602 RCV001700364 RCV000876067 RCV001081221

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

Criteria Provided
Conflicting Classifications

CA5296343

rs_144121978

6 SubmittersRCV000335520 RCV000399643 RCV002402087 RCV001509370 RCV001861344 RCV004732862

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

Criteria Provided
Conflicting Classifications

CA5296776

rs_142843968

7 SubmittersRCV000342521 RCV001358835 RCV000407208 RCV002365439 RCV001662351

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

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
Inborn genetic diseases
Condition: not provided
SETX-related disorder

Criteria Provided
Conflicting Classifications

CA5297785

rs_200614765

6 SubmittersRCV000262880 RCV000320659 RCV000687686 RCV002392927 RCV002472998 RCV004544713

NM_015046.7(SETX):c.472T>G (p.Leu158Val)

SNV
Germline

Chr9:132342716

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
Hereditary spastic paraplegia
Inborn genetic diseases
SETX-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA5298036

rs_145438764

12 SubmittersRCV000399144 RCV000350037 RCV000513524 RCV001080659 RCV001848728 RCV002338960 RCV004530478 RCV003317200

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

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

CA5296314

rs_543247171

7 SubmittersRCV000383186 RCV000328640 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
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5296324

rs_200507089

3 SubmittersRCV000293531 RCV000348329 RCV002523741 RCV002411265

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

Criteria Provided
Conflicting Classifications

CA5296398

rs_151304085

4 SubmittersRCV000266732 RCV000361458 RCV002379256 RCV002524586 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
Inborn genetic diseases
SETX-related disorder
Condition: not provided
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4

Criteria Provided
Conflicting Classifications

CA5297167

rs_147018359

6 SubmittersRCV000348389 RCV002338959 RCV004544710 RCV003482252 RCV000400900 RCV000644810

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

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

Criteria Provided
Conflicting Classifications

CA5410675

rs_773095721

2 SubmittersRCV000267937 RCV000323047 RCV005222883

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

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

Criteria Provided
Conflicting Classifications

CA5411021

rs_771316696

3 SubmittersRCV000305057 RCV000401566 RCV002402014 RCV002520542

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

Criteria Provided
Conflicting Classifications

CA8023532

rs_776333956

5 SubmittersRCV000352976 RCV004021657 RCV002521010 RCV003409496

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

Criteria Provided
Conflicting Classifications

CA6653255

rs_139801016

7 SubmittersRCV000391548 RCV000994942 RCV001260220 RCV001039954 RCV001848094

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_001097577.3(ANG):c.365C>T (p.Ala122Val)

SNV
Germline

Chr14:20693929

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 9
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7083182

rs_374766597

2 SubmittersRCV000284382 RCV005055865

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_025137.4(SPG11):c.2317-13C>G

SNV
Germline

Chr15:44622360

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10647003

rs_372670941

5 SubmittersRCV000310734 RCV002286730 RCV005010276

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
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8052119

rs_764097337

3 SubmittersRCV000311859 RCV000370163 RCV000404707 RCV003469254 RCV002264928

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

Criteria Provided
Conflicting Classifications

CA9924316

rs_747208140

3 SubmittersRCV000264195 RCV000321639 RCV002520024 RCV002356472

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

Criteria Provided
Conflicting Classifications

CA10652677

rs_886056811

3 SubmittersRCV000347700 RCV000402917 RCV002323547 RCV002254693

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

Criteria Provided
Conflicting Classifications

CA9924308

rs_201798741

5 SubmittersRCV000299440 RCV000356646 RCV002254548 RCV001564242 RCV002348093 RCV003922478

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

SNV
Germline

Chr21:31659835

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 1
Inborn genetic diseases
SOD1-related disorder

Criteria Provided
Conflicting Classifications

CA9998860

rs_756458346

4 SubmittersRCV000387182 RCV004668900 RCV004745347

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
Amyotrophic lateral sclerosis 27, juvenile
Neuropathy, hereditary sensory and autonomic, type IA, severe

Criteria Provided
Multiple Submitters
No Conflicts

CA16042656

rs_267607087

4 SubmittersRCV000414705 RCV000790228 RCV000795948 RCV003152600 RCV001249813

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

SNV
Germline

Chr15:44584299

Pathogenic/Likely pathogenic

Spastic paraparesis
Difficulty walking
Generalized hyperreflexia
Gait disturbance
Condition: not provided
Hereditary spastic paraplegia 11
Hereditary spastic paraplegia 11
Amyotrophic lateral sclerosis type 5
Charcot-Marie-Tooth disease axonal type 2X
Hereditary spastic paraplegia
Amyotrophic lateral sclerosis
Inborn genetic diseases
Hereditary spastic paraplegia 11
Juvenile amyotrophic lateral sclerosis
Charcot-Marie-Tooth disease axonal type 2X
Charcot-Marie-Tooth disease axonal type 2X

Criteria Provided
Multiple Submitters
No Conflicts

CA7534422

rs_201689565

19 SubmittersRCV000414944 RCV001268887 RCV000801301 RCV005010315 RCV001848737 RCV003105892 RCV003168606 RCV003483611 RCV004767249

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

SNV
Germline

Chr2:201724392

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA2057886

rs_767350733

5 SubmittersRCV000421128 RCV000624087 RCV000735438 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_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
Condition: not provided
ALS2-related disorder
Amyotrophic lateral sclerosis type 2, juvenile
not specified
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA2057766

rs_3219166

9 SubmittersRCV000473535 RCV001531945 RCV001143531 RCV001143532 RCV001662448 RCV001848840

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

SNV
Germline

Chr6:109741502

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3955919

rs_138048706

11 SubmittersRCV000462434 RCV000662126 RCV000662127 RCV000662128 RCV000662129 RCV001662424 RCV001573278 RCV003970280 RCV002411445

NM_004984.4(KIF5A):c.1264C>T (p.Arg422Cys)

SNV
Germline

Chr12:57570133

Conflicting classifications of pathogenicity

Spastic paraplegia
KIF5A-related disorder
Condition: not provided
Hereditary spastic paraplegia 10
Amyotrophic lateral sclerosis, susceptibility to, 25

Criteria Provided
Conflicting Classifications

CA6652803

rs_748402153

6 SubmittersRCV000458531 RCV004551528 RCV001289240 RCV001114824 RCV005411441

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

SNV
Germline

Chr12:57576326

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis
Spastic paraplegia
KIF5A-related disorder

Criteria Provided
Conflicting Classifications

CA6653017

rs_377539747

3 SubmittersRCV001843522 RCV000471143 RCV004737532

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
Hereditary spastic paraplegia 11
Amyotrophic lateral sclerosis type 5
Charcot-Marie-Tooth disease axonal type 2X
Charcot-Marie-Tooth disease axonal type 2X
not specified
SPG11-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7534494

rs_145643238

17 SubmittersRCV000456956 RCV000658710 RCV001252107 RCV002467808 RCV003483617 RCV002467809 RCV003488606 RCV004748768 RCV002339138

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

SNV
Germline

Chr15:44620368

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7535167

rs_139687202

10 SubmittersRCV000518728 RCV001260217 RCV000475662 RCV001563519 RCV001848826

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

SNV
Germline

Chr15:44608577

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7534998

rs_201271196

4 SubmittersRCV000472310 RCV003155188 RCV002323697 RCV002496754

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

SNV
Germline

Chr15:44608472

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7534986

rs_201082396

10 SubmittersRCV000462305 RCV000765212 RCV001260216 RCV001508758 RCV002467814 RCV001848803 RCV002467815 RCV003401464

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

SNV
Germline

Chr2:74365534

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1721654

rs_758387062

4 SubmittersRCV000479029 RCV001463517 RCV003900024 RCV002438188

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

SNV
Germline

Chr6:109738415

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16618230

rs_776005417

8 SubmittersRCV000478168 RCV000763552 RCV002525832 RCV001232367 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
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Inborn genetic diseases
SETX-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA5297318

rs_148604312

9 SubmittersRCV000515884 RCV000560688 RCV000859602 RCV001169791 RCV001169792 RCV002356794 RCV004541530 RCV005434963

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

SNV
Germline

Chr9:132328369

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
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
not specified
SETX-related disorder
Inborn genetic diseases
Amyotrophic lateral sclerosis

Criteria Provided
Conflicting Classifications

CA5297445

rs_145097270

10 SubmittersRCV000515959 RCV000517650 RCV001082564 RCV001167391 RCV001168005 RCV001283502 RCV004535538 RCV002446949 RCV003105922

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

SNV
Germline

Chr2:74365143

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1721621

rs_776489779

3 SubmittersRCV000488183 RCV000558488

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

SNV
Germline

Chr2:201726688

Pathogenic/Likely pathogenic

Condition: not provided
Infantile-onset ascending hereditary spastic paralysis
Juvenile primary lateral sclerosis
Amyotrophic lateral sclerosis type 2, juvenile
Infantile-onset ascending hereditary spastic paralysis
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_015046.7(SETX):c.5203G>A (p.Val1735Ile)

SNV
Germline

Chr9:132326395

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
See cases

Criteria Provided
Conflicting Classifications

CA5297055

rs_752646721

5 SubmittersRCV000498384 RCV003233653 RCV003233654 RCV001851384 RCV002252142

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

3 SubmittersRCV000498690 RCV003766796

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

SNV
Germline

Chr9:132328588

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5297500

rs_77984885

6 SubmittersRCV000507293 RCV001089104 RCV000552319 RCV004541589 RCV002438234

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

SNV
Germline

Chr1:11013814

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
Amyotrophic lateral sclerosis type 10

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
Amyotrophic lateral sclerosis type 6
Tremor, hereditary essential, 4
Amyotrophic lateral sclerosis type 6
FUS-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8023935

rs_190724342

5 SubmittersRCV000512789 RCV001078775 RCV001117054 RCV003902815 RCV002420293

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

SNV
Germline

Chr9:132311809

Conflicting classifications of pathogenicity

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

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_001199397.3(NEK1):c.418G>A (p.Gly140Arg)

SNV
Germline

Chr4:169589493

Conflicting classifications of pathogenicity

Mohr syndrome
Amyotrophic lateral sclerosis, susceptibility to, 24
Short-rib thoracic dysplasia 6 with or without polydactyly
Type IV short rib polydactyly syndrome
Short-rib thoracic dysplasia 6 with or without polydactyly

Criteria Provided
Conflicting Classifications

CA358741166

rs_1301705612

4 SubmittersRCV005034060 RCV000515887 RCV003152715

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

SNV
Germline

Chr2:74370985

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1722318

rs_72466489

5 SubmittersRCV000585130 RCV000516655 RCV001088199 RCV003942686

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

SNV
Germline

Chr2:74372939

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1722418

rs_148810193

5 SubmittersRCV000517517 RCV005056104 RCV001329176 RCV000644478

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

SNV
Germline

Chr2:74377999

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA347321489

rs_1393363759

3 SubmittersRCV000516456 RCV001232579 RCV003993994

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

SNV
Germline

Chr2:74378239

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1722618

rs_758320436

4 SubmittersRCV000529783 RCV000516591 RCV003935364 RCV004023504

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

CA5296340

rs_370366576

4 SubmittersRCV000518348 RCV002404331 RCV003233697 RCV003233696 RCV005213318

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
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
SETX-related disorder

Criteria Provided
Conflicting Classifications

CA5296390

rs_142303658

10 SubmittersRCV000518280 RCV000764810 RCV000624322 RCV001702669 RCV001731743 RCV004541621

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

SNV
Germline

Chr9:132271770

Conflicting classifications of pathogenicity

Condition: not provided
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
SETX-related disorder

Criteria Provided
Conflicting Classifications

CA5296494

rs_145397619

7 SubmittersRCV000518213 RCV000524648 RCV001814998 RCV003233693 RCV003233692 RCV004541620

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

SNV
Germline

Chr9:132295980

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

CA5296854

rs_142917412

5 SubmittersRCV000644817 RCV002358400 RCV002473039 RCV004541618

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

SNV
Germline

Chr9:132297032

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5296892

rs_762791927

2 SubmittersRCV000518592 RCV002525079

NM_015046.7(SETX):c.5501A>G (p.His1834Arg)

SNV
Germline

Chr9:132300677

Conflicting classifications of pathogenicity

not specified
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

CA5296972

rs_770822383

4 SubmittersRCV000517645 RCV001246159 RCV002350140 RCV003233687 RCV003233688

NM_015046.7(SETX):c.5294A>G (p.Asn1765Ser)

SNV
Germline

Chr9:132311837

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5297022

rs_373085593

3 SubmittersRCV000518457 RCV002350139 RCV005213317

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

SNV
Germline

Chr9:132326733

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

Criteria Provided
Conflicting Classifications

CA5297121

rs_140781535

9 SubmittersRCV000518382 RCV000764811 RCV001579382 RCV002341213 RCV003233685 RCV003233686

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

SNV
Germline

Chr9:132327165

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5297202

rs_143661911

10 SubmittersRCV000518326 RCV000550269 RCV002329225 RCV001165737 RCV001644615 RCV001167321 RCV001848902 RCV004537862

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

SNV
Germline

Chr9:132327478

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5297266

rs_756823072

2 SubmittersRCV000516516 RCV002527524

NM_015046.7(SETX):c.4045C>G (p.Gln1349Glu)

SNV
Germline

Chr9:132327553

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
Amyotrophic lateral sclerosis type 4

Criteria Provided
Conflicting Classifications

CA200807527

rs_146407699

3 SubmittersRCV000518088 RCV000644816 RCV003233683 RCV003233684

NM_015046.7(SETX):c.3602T>C (p.Ile1201Thr)

SNV
Germline

Chr9:132327996

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5297364

rs_750443804

2 SubmittersRCV002473038 RCV005222988

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
SETX-related disorder
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2

Criteria Provided
Conflicting Classifications

CA5297495

rs_766799023

4 SubmittersRCV000516603 RCV001851461 RCV003233678 RCV004537860 RCV003233677

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

SNV
Germline

Chr9:132328582

Conflicting classifications of pathogenicity

not specified
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

Criteria Provided
Conflicting Classifications

CA5297499

rs_141266068

8 SubmittersRCV000517441 RCV001311797 RCV000644833 RCV002438247 RCV004787827

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

SNV
Germline

Chr9:132328736

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5297523

rs_149610510

4 SubmittersRCV000518240 RCV003431058 RCV001857928 RCV002438246

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

SNV
Germline

Chr9:132328756

Conflicting classifications of pathogenicity

not specified
Condition: not provided
SETX-related disorder
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

6 SubmittersRCV000517506 RCV001755772 RCV004732920 RCV003766933 RCV003233673 RCV003233674

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

SNV
Germline

Chr9:132329203

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5297604

rs_200459144

3 SubmittersRCV000551603 RCV002448560 RCV005000087

NM_015046.7(SETX):c.2390A>G (p.Lys797Arg)

SNV
Germline

Chr9:132329208

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

CA375336137

rs_1273786747

3 SubmittersRCV001644613 RCV001857927 RCV003233672 RCV003233671

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

SNV
Germline

Chr9:132329908

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5297732

rs_761877146

4 SubmittersRCV000518116 RCV000695046 RCV002413399 RCV004772950

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

SNV
Germline

Chr9:132330206

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5297784

rs_144164119

5 SubmittersRCV000517536 RCV001848899 RCV002395236 RCV001463467 RCV004732919

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

SNV
Germline

Chr9:132334640

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
Condition: not provided
Inborn genetic diseases
SETX-related disorder

Criteria Provided
Conflicting Classifications

CA5297936

rs_757988188

7 SubmittersRCV000517524 RCV001168904 RCV001039811 RCV001168905 RCV002223857 RCV002420301 RCV004732922

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

SNV
Germline

Chr9:132336360

Conflicting classifications of pathogenicity

not specified
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
Hereditary spastic paraplegia
Inborn genetic diseases
SETX-related disorder

Criteria Provided
Conflicting Classifications

CA5297991

rs_117861188

12 SubmittersRCV000516905 RCV000535102 RCV001311799 RCV001166018 RCV001166019 RCV001848903 RCV002367720 RCV004541619

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

SNV
Germline

Chr9:132349257

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA200838114

rs_757760067

3 SubmittersRCV001049138 RCV002404330 RCV005000086

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
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7535442

rs_763060505

4 SubmittersRCV000517770 RCV001851462 RCV002467849 RCV002467850 RCV005054210

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
Inborn genetic diseases
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

Criteria Provided
Conflicting Classifications

CA9924325

rs_144718603

5 SubmittersRCV000516581 RCV002367723 RCV001143189 RCV001143188 RCV002254551

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

SNV
Germline

Chr2:74371149

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1722338

rs_371723224

8 SubmittersRCV000756010 RCV000644472 RCV001137903 RCV001137904 RCV002272277 RCV003900094 RCV005239134 RCV002527653

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

SNV
Germline

Chr9:132328569

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5297494

rs_370781594

7 SubmittersRCV000521273 RCV002438262 RCV001306845 RCV001662531 RCV004541636 RCV004787833

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

SNV
Germline

Chr9:35067915

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

CA5039527

rs_779959657

3 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_003900.5(SQSTM1):c.763G>C (p.Val255Leu)

SNV
Germline

Chr5:179833040

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

CA3600669

rs_182522590

2 SubmittersRCV000544306 RCV004791567

NM_015046.7(SETX):c.4436C>T (p.Ala1479Val)

SNV
Germline

Chr9:132327162

Conflicting classifications of pathogenicity

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

CA5297250

rs_148078248

8 SubmittersRCV000542207 RCV003403306 RCV002330911 RCV001085153 RCV001167323 RCV001167324

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
SETX-related disorder
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA5297271

rs_140147684

11 SubmittersRCV000549234 RCV001167927 RCV001167928 RCV001288399 RCV004541717 RCV002323994 RCV004782439

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
SETX-related disorder

Criteria Provided
Conflicting Classifications

CA5297546

rs_148375192

4 SubmittersRCV000552679 RCV001165886 RCV001165887 RCV002431641 RCV004732941

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

SNV
Germline

Chr9:132349336

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5297587

rs_150532677

15 SubmittersRCV000540061 RCV001167461 RCV001167462 RCV002456164 RCV001000648 RCV004538008 RCV001848950 RCV000762582 RCV002252164

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

SNV
Germline

Chr9:132275247

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
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
Inborn genetic diseases
Hereditary spastic paraplegia
SETX-related disorder

Criteria Provided
Conflicting Classifications

CA5297098

rs_146873848

12 SubmittersRCV000558440 RCV000859806 RCV001644653 RCV002341378 RCV001848953 RCV004538011

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

SNV
Germline

Chr9:132329316

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5297629

rs_200153024

4 SubmittersRCV000526691 RCV002448727 RCV004541714 RCV003480678

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
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

CA5297945

rs_759468738

3 SubmittersRCV000536421 RCV001168906 RCV001168907 RCV002404485

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

SNV
Germline

Chr9:132346457

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5298104

rs_117326462

8 SubmittersRCV001287950 RCV000556642 RCV001558290 RCV001848949 RCV001167591 RCV001167592 RCV002413561

NM_015046.7(SETX):c.2854A>G (p.Thr952Ala)

SNV
Germline

Chr9:132328744

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA375333512

rs_1375463032

2 SubmittersRCV000533100 RCV004659095

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
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5297590

rs_369470593

3 SubmittersRCV000527749 RCV002456163 RCV004592584

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

SNV
Germline

Chr9:132329593

Conflicting classifications of pathogenicity

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

CA5297680

rs_143727702

4 SubmittersRCV000537094 RCV000992930 RCV002420466 RCV004732940

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

SNV
Germline

Chr9:35066694

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

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

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

7 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
Amyotrophic lateral sclerosis type 5
Hereditary spastic paraplegia
Charcot-Marie-Tooth disease axonal type 2X

Criteria Provided
Conflicting Classifications

CA658658292

rs_1555451101

3 SubmittersRCV000544562 RCV002467866 RCV001848945 RCV002467867

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

SNV
Germline

Chr15:44584365

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7534430

rs_150823040

7 SubmittersRCV000541207 RCV002467875 RCV001848946 RCV002509426 RCV002467874 RCV003372748

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

SNV
Germline

Chr15:44596256

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7534720

rs_191148548

5 SubmittersRCV002330887 RCV002467869 RCV002467868 RCV002263778 RCV000556968 RCV004796233

NM_025137.4(SPG11):c.4591C>T (p.Gln1531Ter)

SNV
Germline

Chr15:44595303

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA392226101

rs_1362530862

2 SubmittersRCV000549837 RCV005010510

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

SNV
Germline

Chr22:23767421

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
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

4 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
Single Submitter

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
Condition: not provided
ANXA11-related disorder
Amyotrophic lateral sclerosis

Criteria Provided
Multiple Submitters
No Conflicts

CA5576379

rs_142083484

5 SubmittersRCV000578149 RCV001860003 RCV003962641 RCV003105971

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

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

Criteria Provided
Conflicting Classifications

CA5296870

rs_374656811

11 SubmittersRCV000644836 RCV001706679 RCV001169651 RCV000713224 RCV002358638 RCV001165667 RCV001848978 RCV004530626

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

SNV
Germline

Chr10:13109249

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA203254276

rs_934287314

2 SubmittersRCV000578674 RCV001860012

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

SNV
Germline

Chr15:44651862

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA7535624

rs_140385286

8 SubmittersRCV000578726 RCV000642546 RCV000763352 RCV001848979 RCV002467901 RCV002467902

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

SNV
Germline

Chr16:31191486

Conflicting classifications of pathogenicity

Condition: not provided
Amyotrophic lateral sclerosis type 6
Tremor, hereditary essential, 4
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
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
SETX-related disorder

Criteria Provided
Conflicting Classifications

CA5296396

rs_760196991

6 SubmittersRCV000585562 RCV003233754 RCV003233755 RCV001860112 RCV004530633

NM_015046.7(SETX):c.6085A>G (p.Lys2029Glu)

SNV
Germline

Chr9:132295893

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

CA5296844

rs_746525639

5 SubmittersRCV000585033 RCV003233757 RCV003233756 RCV005213328 RCV002358643

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

SNV
Germline

Chr9:132349425

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5298157

rs_149808180

4 SubmittersRCV000585415 RCV002341496 RCV004530634 RCV001860113

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
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

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/Likely pathogenic

Amyotrophic lateral sclerosis, susceptibility to, 25
Spastic paraplegia
Hereditary spastic paraplegia 10

Criteria Provided
Multiple Submitters
No Conflicts

CA385517122

rs_1555179091

3 SubmittersRCV000599583 RCV001854130 RCV005409683

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

SNV
Germline

Chr12:57582628

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385517105

rs_1555179087

3 SubmittersRCV000598752 RCV002531121 RCV003311856

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
Amyotrophic lateral sclerosis type 2, juvenile
ALS2-related disorder
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA2057993

rs_41308840

4 SubmittersRCV000640994 RCV001139219 RCV001139218 RCV001591429 RCV005000433

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

SNV
Germline

Chr2:201761663

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2058669

rs_61745503

5 SubmittersRCV001137295 RCV001089250 RCV001137294 RCV001644727 RCV001849016 RCV005357852

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

SNV
Germline

Chr2:74362701

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1721440

rs_200834352

5 SubmittersRCV000644479 RCV001027492 RCV002458080 RCV003965364 RCV005357855

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

SNV
Germline

Chr2:74365144

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1721622

rs_140066692

3 SubmittersRCV000644468 RCV002528909

NM_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
not specified

Criteria Provided
Conflicting Classifications

CA3955852

rs_529048339

6 SubmittersRCV000654270 RCV001154805 RCV001154806 RCV002360664 RCV003488768 RCV003918092 RCV005000464

NM_015046.7(SETX):c.7708C>T (p.Pro2570Ser)

SNV
Germline

Chr9:132264565

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA375323518

rs_1240232139

2 SubmittersRCV000644818 RCV005268692

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

SNV
Germline

Chr9:132326619

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5297100

rs_371894414

5 SubmittersRCV000644814 RCV002334141 RCV001849022 RCV003233771 RCV002473088 RCV003233772

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

SNV
Germline

Chr9:132328843

Conflicting classifications of pathogenicity

Condition: not provided
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
not specified

Criteria Provided
Conflicting Classifications

CA5297536

rs_561190371

8 SubmittersRCV000992932 RCV000644837 RCV002440309 RCV001262697 RCV001270092 RCV003317317

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

SNV
Germline

Chr9:132329187

Conflicting classifications of pathogenicity

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

CA5297599

rs_201096140

6 SubmittersRCV000644819 RCV003480733 RCV004723028 RCV002458083

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

SNV
Germline

Chr9:132331319

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5297886

rs_372193033

7 SubmittersRCV000644822 RCV001644729 RCV002369707 RCV003424222 RCV004732984

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

SNV
Germline

Chr9:35065349

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA373289512

rs_1554668805

4 SubmittersRCV000639654 RCV001535609 RCV000993545

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

SNV
Germline

Chr9:132329474

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

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

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

Criteria Provided
Conflicting Classifications

CA5298101

rs_747469176

4 SubmittersRCV000644809 RCV002422333 RCV004533372 RCV004723027

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

SNV
Germline

Chr9:132264613

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

CA5296362

rs_368269464

4 SubmittersRCV000644827 RCV002388094 RCV003482289 RCV004533375

NM_015046.7(SETX):c.4683G>C (p.Gln1561His)

SNV
Germline

Chr9:132326915

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5297150

rs_772991134

2 SubmittersRCV000644811

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

SNV
Germline

Chr9:132329194

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA375336078

rs_1400027699

3 SubmittersRCV000644823 RCV004025671 RCV004533373

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

SNV
Germline

Chr9:132329344

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

CA5297637

rs_745938575

3 SubmittersRCV000644812 RCV002473087 RCV003233769 RCV003233770

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

SNV
Germline

Chr9:132342757

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5298042

rs_767453182

4 SubmittersRCV000644846 RCV001167588 RCV001288404 RCV001167587 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

5 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
Charcot-Marie-Tooth disease axonal type 2X
Inborn genetic diseases
Amyotrophic lateral sclerosis type 5
SPG11-related disorder

Criteria Provided
Conflicting Classifications

CA7533946

rs_200276333

9 SubmittersRCV000642530 RCV001507872 RCV002467949 RCV002360574 RCV002467948 RCV004748877

NM_025137.4(SPG11):c.2857G>T (p.Glu953Ter)

SNV
Germline

Chr15:44615544

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA7535116

rs_372906057

5 SubmittersRCV000642550 RCV002282282 RCV005000438 RCV005010624

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

Autosomal dominant mitochondrial myopathy with exercise intolerance
Frontotemporal dementia and/or amyotrophic lateral sclerosis 2
Lower motor neuron syndrome with late-adult onset
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
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Hereditary spastic paraplegia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5297582

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

Criteria Provided
Conflicting Classifications

CA5297900

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

CA410036643

rs_121912431

3 SubmittersRCV000664220

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

SNV
Germline

Chr15:44565954

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 type 5
not specified

Criteria Provided
Conflicting Classifications

CA7533957

rs_371334506

4 SubmittersRCV000679859 RCV000806086 RCV002467985 RCV002467984 RCV005431870

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

CA7534559

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

Criteria Provided
Conflicting Classifications

CA1721441

rs_145819459

4 SubmittersRCV000694263 RCV002458247 RCV001811448

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

SNV
Germline

Chr2:74372935

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1722416

rs_149447433

4 SubmittersRCV000685358 RCV002331324 RCV004723063 RCV005436007

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

SNV
Germline

Chr2:74378047

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA347321804

rs_1558948987

2 SubmittersRCV000707148 RCV005051823

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

SNV
Germline

Chr2:74366257

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1721750

rs_375079576

2 SubmittersRCV000692480 RCV002440457

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

SNV
Germline

Chr2:74367989

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1721993

rs_143914684

5 SubmittersRCV000688124 RCV001558947 RCV002422480 RCV003403590

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

SNV
Germline

Chr2:74366371

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1721780

rs_778201974

4 SubmittersRCV001139901 RCV000689468 RCV002458218 RCV001139900 RCV005240470

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

SNV
Germline

Chr2:74377999

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA347321486

rs_1393363759

4 SubmittersRCV000991877 RCV001027493 RCV000685402

NM_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

CA375327288

rs_1445388214

4 SubmittersRCV000689471 RCV002473107 RCV004535715

NM_015046.7(SETX):c.1468G>A (p.Val490Ile)

SNV
Germline

Chr9:132330130

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5297771

rs_763545230

7 SubmittersRCV000700292 RCV000713198 RCV001644767 RCV002388306 RCV003233823 RCV003233822

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

SNV
Germline

Chr9:132330255

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

CA5297795

rs_370363342

4 SubmittersRCV000992929 RCV000695198 RCV002386213 RCV004733003

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

SNV
Germline

Chr9:34637378

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA5035928

rs_140376902

2 SubmittersRCV000697805 RCV002272335

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

SNV
Germline

Chr9:132264613

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5296363

rs_368269464

3 SubmittersRCV000689472 RCV002473108

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

SNV
Germline

Chr9:132329848

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

Criteria Provided
Conflicting Classifications

CA5297724

rs_764995848

4 SubmittersRCV000705240 RCV001759414 RCV002397476 RCV005367520

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

SNV
Germline

Chr9:34635672

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5035819

rs_192644838

2 SubmittersRCV000694694 RCV004025212

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

SNV
Germline

Chr9:35061574

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

CA5039304

rs_183223259

6 SubmittersRCV000733640 RCV000685579 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

CA5297214

rs_747804357

2 SubmittersRCV000703290 RCV003140115

NM_015046.7(SETX):c.3823C>T (p.Arg1275Cys)

SNV
Germline

Chr9:132327775

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5297321

rs_760272692

4 SubmittersRCV000699331 RCV004733006 RCV004669088 RCV005231288

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

CA5297425

rs_760535401

2 SubmittersRCV000688257 RCV002325367

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

SNV
Germline

Chr9:132330224

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

CA5297788

rs_201441886

6 SubmittersRCV000702549 RCV001167523 RCV001167524 RCV001662774 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
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6

Criteria Provided
Conflicting Classifications

CA373292088

rs_1563980403

2 SubmittersRCV001809749 RCV002233201

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

SNV
Germline

Chr15:44563204

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7533841

rs_371313584

4 SubmittersRCV002369821 RCV000685566 RCV001584551 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
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6669199

rs_144370662

3 SubmittersRCV000704095 RCV003980319 RCV004692186

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

SNV
Germline

Chr15:44657201

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

CA7535727

rs_139091750

4 SubmittersRCV000696904 RCV002388274 RCV001799700 RCV002468012 RCV002468013

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
not specified

Criteria Provided
Conflicting Classifications

CA5297133

rs_749891883

6 SubmittersRCV000696941 RCV002334326 RCV002473117 RCV005240484

NM_015046.7(SETX):c.263A>G (p.Tyr88Cys)

SNV
Germline

Chr9:132346386

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5298093

rs_149276791

2 SubmittersRCV000698387 RCV004659180

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
Charcot-Marie-Tooth disease axonal type 2X
Amyotrophic lateral sclerosis type 5

Criteria Provided
Conflicting Classifications

CA7534436

rs_139423939

5 SubmittersRCV000686533 RCV000995317 RCV002343435 RCV002468000 RCV002467999

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

SNV
Germline

Chr15:44574939

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7534300

rs_199920965

5 SubmittersRCV000685460 RCV002352108 RCV004768553 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
Condition: not provided
Charcot-Marie-Tooth disease axonal type 2X
Amyotrophic lateral sclerosis type 5

Criteria Provided
Conflicting Classifications

CA7534402

rs_752401008

7 SubmittersRCV000692442 RCV000765211 RCV003223668 RCV002468006 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

CA410036675

rs_1568809149

3 SubmittersRCV000697630

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

SNV
Germline

Chr20:58389522

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9924145

rs_753611165

2 SubmittersRCV002254568 RCV002352159

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

SNV
Germline

Chr15:44567580

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 11
SPG11-related disorder
Condition: not provided
Hereditary spastic paraplegia
Amyotrophic lateral sclerosis type 5
Hereditary spastic paraplegia 11
Charcot-Marie-Tooth disease axonal type 2X
Early-onset Parkinson disease 20
Charcot-Marie-Tooth disease axonal type 2X

Criteria Provided
Multiple Submitters
No Conflicts

CA7534064

rs_141263564

10 SubmittersRCV000694024 RCV003411614 RCV004792389 RCV001849059 RCV003883160 RCV003447554 RCV004768574

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
Condition: not provided

Criteria Provided
Conflicting Classifications

CA410915171

rs_1252496774

3 SubmittersRCV000688111 RCV002440432 RCV004692092

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

SNV
Germline

Chr21:31667319

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA410037495

rs_76731700

3 SubmittersRCV000713400 RCV001843542 RCV000696225

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
Lower motor neuron syndrome with late-adult onset
Autosomal dominant mitochondrial myopathy with exercise intolerance
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10145261

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

CA410037429

rs_1568810660

3 SubmittersRCV000687912 RCV000713398

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

SNV
Germline

Chr1:11020554

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 10
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
Condition: not provided
Amyotrophic lateral sclerosis type 10
Inborn genetic diseases
TARDBP-related disorder

Criteria Provided
Conflicting Classifications

CA586412

rs_149517613

6 SubmittersRCV001467552 RCV000713824 RCV001101666 RCV003303206 RCV003965466

NM_003900.5(SQSTM1):c.185G>T (p.Gly62Val)

SNV
Germline

Chr5:179821121

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

CA3600384

rs_774355338

3 SubmittersRCV000713545 RCV001422461

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

CA375325052

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

CA5296777

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

CA5296939

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

CA5297156

rs_764920626

4 SubmittersRCV000713215 RCV001165734 RCV001169728 RCV001861986 RCV001849076

NM_015046.7(SETX):c.4600G>C (p.Asp1534His)

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

CA5297170

rs_746807833

2 SubmittersRCV000713214 RCV005223137

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

CA5297296

rs_144900653

6 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
SETX-related disorder
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5297538

rs_376022544

7 SubmittersRCV000713201 RCV001042487 RCV004535770 RCV002265868 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
SETX-related disorder

Criteria Provided
Conflicting Classifications

CA5297651

rs_377734748

7 SubmittersRCV000713200 RCV001232643 RCV002424738 RCV003233835 RCV003233836 RCV004733014

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

SNV
Germline

Chr9:132329844

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

CA5297723

rs_188247474

4 SubmittersRCV000713199 RCV002397497 RCV002532950

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

CA410036027

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

CA410037766

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
SOD1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA410037797

rs_1482760341

8 SubmittersRCV000713407 RCV000808273 RCV004745565

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

CA373293400

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

CA5039174

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
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

CA464602374

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

CA5039286

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
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

CA464403788

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

CA373293355

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
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

CA5039496

rs_549915384

5 SubmittersRCV000733637 RCV000801185 RCV002332532 RCV004535869

NM_001753.5(CAV1):c.54C>G (p.Ile18Met)

SNV
Germline

Chr7:116526548

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Amyotrophic lateral sclerosis

Criteria Provided
Conflicting Classifications

CA4447819

rs_150051547

3 SubmittersRCV000757056 RCV002536563 RCV005357983

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

CA5297080

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
TBK1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA385600197

rs_1328949478

4 SubmittersRCV000760459 RCV002536579 RCV004745579

NM_025137.4(SPG11):c.6409C>T (p.Arg2137Ter)

SNV
Germline

Chr15:44570593

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA7534139

rs_769898852

8 SubmittersRCV000760765 RCV001198712 RCV002287441 RCV005012290 RCV004788159

NM_015046.7(SETX):c.6013G>A (p.Val2005Met)

SNV
Germline

Chr9:132295965

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5296852

rs_148568105

6 SubmittersRCV000762580 RCV001662806 RCV002352274 RCV001855957

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

CA5296407

rs_372535542

3 SubmittersRCV000778875 RCV001169582 RCV002386359

NM_001008212.2(OPTN):c.403G>T (p.Glu135Ter)

SNV
Germline

Chr10:13112486

Pathogenic

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

Criteria Provided
Single Submitter

CA5410616

rs_140599944

2 SubmittersRCV000778274 RCV001869132

NM_001008212.2(OPTN):c.626+1G>A

SNV
Germline

Chr10:13116341

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA5410685

rs_756957223

2 SubmittersRCV001869138 RCV003344037

NM_020919.4(ALS2):c.4415C>T (p.Thr1472Met)

SNV
Germline

Chr2:201707011

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2057571

rs_201089588

2 SubmittersRCV000803341 RCV001136862 RCV001136863

NM_020919.4(ALS2):c.3520A>T (p.Lys1174Ter)

SNV
Germline

Chr2:201723434

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA2057847

rs_757972700

4 SubmittersRCV000800103 RCV001375960 RCV002051896

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

SNV
Germline

Chr2:74361624

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1721367

rs_778307537

2 SubmittersRCV000810721 RCV001142311 RCV001142312

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

SNV
Germline

Chr2:74363422

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1721542

rs_757034536

3 SubmittersRCV000812480 RCV002442720 RCV004584806

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

SNV
Germline

Chr2:74365896

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1721696

rs_754893423

4 SubmittersRCV000820552 RCV001508445 RCV003413655 RCV004609549

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

SNV
Germline

Chr2:74366536

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1721809

rs_72659379

4 SubmittersRCV000810084 RCV002440741 RCV004721629 RCV004745603

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

SNV
Germline

Chr2:74370248

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1722213

rs_150368544

6 SubmittersRCV000803250 RCV001849104 RCV002537155 RCV003480838 RCV004745594

NM_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

CA3433059

rs_201075828

6 SubmittersRCV000806815 RCV001683661 RCV004538106

NM_003900.5(SQSTM1):c.995C>G (p.Ser332Ter)

SNV
Germline

Chr5:179833612

Pathogenic

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

Criteria Provided
Single Submitter

CA362452408

rs_1185406298

1 SubmittersRCV000795535

NM_015046.7(SETX):c.6122T>C (p.Ile2041Thr)

SNV
Germline

Chr9:132288636

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5296823

rs_140676924

7 SubmittersRCV001644824 RCV000792834 RCV002352314 RCV000992948 RCV004538088 RCV001169647 RCV001169648

NM_015046.7(SETX):c.6058A>G (p.Ile2020Val)

SNV
Germline

Chr9:132295920

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5296845

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

Criteria Provided
Conflicting Classifications

CA5296976

rs_151046729

5 SubmittersRCV000821447 RCV001167265 RCV001167266 RCV002345897 RCV004540119 RCV004997385

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
Condition: not provided
Amyotrophic lateral sclerosis type 4
SETX-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5297114

rs_368931174

6 SubmittersRCV000795164 RCV002272358 RCV002290435 RCV004733044 RCV002334477

NM_015046.7(SETX):c.3650C>T (p.Thr1217Met)

SNV
Germline

Chr9:132327948

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5297357

rs_140892948

2 SubmittersRCV000794210 RCV002458415

NM_015046.7(SETX):c.3433C>T (p.Arg1145Trp)

SNV
Germline

Chr9:132328165

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Limb-girdle muscular dystrophy

Criteria Provided
Conflicting Classifications

CA5297403

rs_375796832

2 SubmittersRCV000817426 RCV005626229

NM_015046.7(SETX):c.3040A>G (p.Ile1014Val)

SNV
Germline

Chr9:132328558

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

CA5297490

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
SETX-related disorder

Criteria Provided
Conflicting Classifications

CA5297602

rs_761725498

5 SubmittersRCV000820064 RCV001311798 RCV002442748 RCV002290467 RCV004733057

NM_025137.4(SPG11):c.4436G>A (p.Gly1479Asp)

SNV
Germline

Chr15:44595458

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
not specified

Criteria Provided
Conflicting Classifications

CA7534664

rs_374303102

5 SubmittersRCV000811250 RCV001597216 RCV002468060 RCV002468061 RCV002538091 RCV005418360

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
Hereditary spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA392230098

rs_1555451521

4 SubmittersRCV000818278 RCV002249527 RCV005240614

NM_025137.4(SPG11):c.1775C>T (p.Ser592Leu)

SNV
Germline

Chr15:44629349

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7535440

rs_373796566

6 SubmittersRCV000811249 RCV002397668 RCV002468059 RCV001593001 RCV002468058 RCV005418359

NM_004960.4(FUS):c.1446C>T (p.Gly482=)

SNV
Germline

Chr16:31191015

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA280601577

rs_112061837

2 SubmittersRCV000824182 RCV004693403

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
Autosomal dominant mitochondrial myopathy with exercise intolerance
Frontotemporal dementia and/or amyotrophic lateral sclerosis 2
Inborn genetic diseases
CHCHD10-related disorder
Frontotemporal dementia and/or amyotrophic lateral sclerosis 2
Condition: not provided
Autosomal dominant mitochondrial myopathy with exercise intolerance

Criteria Provided
Conflicting Classifications

CA10145297

rs_374211312

7 SubmittersRCV000812293 RCV002422795 RCV003411792 RCV004789214 RCV003145171 RCV005250120

NM_014845.6(FIG4):c.1271+5A>G

SNV
Germline

Chr6:109760388

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3956024

rs_374583399

5 SubmittersRCV000821312 RCV001158266 RCV001158267 RCV001173274 RCV002372344 RCV003908110

NM_013254.4(TBK1):c.701+1G>A

SNV
Germline

Chr12:64474391

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385597873

rs_1592362719

3 SubmittersRCV000797764 RCV003411753 RCV001843550

NM_000454.5(SOD1):c.290A>T (p.Asp97Val)

SNV
Unknown

Chr21:31667308

Likely pathogenic

Amyotrophic lateral sclerosis type 1

Criteria Provided
Single Submitter

CA410037475

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

CA350325908

rs_763455928

2 SubmittersRCV001089471 RCV001095477

NM_000454.5(SOD1):c.317C>T (p.Ser106Leu)

SNV
Germline

Chr21:31667335

Pathogenic/Likely pathogenic

Amyotrophic lateral sclerosis
Amyotrophic lateral sclerosis type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA410037531

rs_1378590183

3 SubmittersRCV000857231 RCV001858533

NM_020919.4(ALS2):c.1627G>A (p.Asp543Asn)

SNV
Germline

Chr2:201754516

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2058415

rs_201161419

6 SubmittersRCV000862041 RCV001143735 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 4
Amyotrophic lateral sclerosis type 11
Charcot-Marie-Tooth disease type 4J
Charcot-Marie-Tooth disease
Inborn genetic diseases
FIG4-related disorder

Criteria Provided
Conflicting Classifications

CA3955878

rs_565096937

5 SubmittersRCV000860529 RCV001154808 RCV001154807 RCV001172965 RCV002372390 RCV003892776

NM_020919.4(ALS2):c.396G>A (p.Pro132=)

SNV
Germline

Chr2:201761598

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

CA2058655

rs_374978798

3 SubmittersRCV001142051 RCV001142052 RCV002539027 RCV004639397

NM_020919.4(ALS2):c.366G>A (p.Gln122=)

SNV
Germline

Chr2:201761628

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2058661

rs_775483404

3 SubmittersRCV000866239 RCV001142056 RCV001142055 RCV001847066

NM_020919.4(ALS2):c.2912+8C>T

SNV
Germline

Chr2:201727697

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2058053

rs_528131651

3 SubmittersRCV001141833 RCV001847072 RCV002538983 RCV001141832

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

SNV
Germline

Chr2:74369414

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1722141

rs_199751168

4 SubmittersRCV000873667 RCV003920425 RCV004808931

NM_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

CA2500884

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

CA3600440

rs_537142935

3 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
SQSTM1-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3600472

rs_139372286

3 SubmittersRCV000877000 RCV004530863 RCV001655632

NM_003900.5(SQSTM1):c.513C>G (p.Pro171=)

SNV
Germline

Chr5:179824069

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3600532

rs_199931327

4 SubmittersRCV000876784 RCV001151637 RCV003432850 RCV004541755

NM_003900.5(SQSTM1):c.547C>T (p.Arg183Cys)

SNV
Germline

Chr5:179824197

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

CA3600562

rs_567433223

6 SubmittersRCV001724184 RCV000877928

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

CA5296521

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

Criteria Provided
Conflicting Classifications

CA5296523

rs_141497098

2 SubmittersRCV000876529 RCV001165608 RCV001165607

NM_015046.7(SETX):c.5536C>T (p.Arg1846Cys)

SNV
Germline

Chr9:132300642

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5296963

rs_551406712

7 SubmittersRCV000876813 RCV001288409 RCV002346031 RCV003233881 RCV003233882 RCV004530858 RCV004792565

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
Condition: not provided
SETX-related disorder

Criteria Provided
Conflicting Classifications

CA5298135

rs_149229231

6 SubmittersRCV000873708 RCV001288751 RCV001847094 RCV003117630 RCV004540253

NM_001008212.2(OPTN):c.1559G>A (p.Arg520His)

SNV
Germline

Chr10:13133528

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5411016

rs_200088838

5 SubmittersRCV000873765 RCV004530815 RCV002064742 RCV002399947

NM_005235.3(ERBB4):c.1122T>G (p.His374Gln)

SNV
Germline

Chr2:211712052

Conflicting classifications of pathogenicity

Condition: not provided
Amyotrophic lateral sclerosis
Amyotrophic lateral sclerosis type 19
ERBB4-related disorder

Criteria Provided
Conflicting Classifications

CA2088236

rs_76603692

8 SubmittersRCV000949889 RCV001260199 RCV001420686 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

CA3433420

rs_368217486

3 SubmittersRCV000951885 RCV003169466

NM_003900.5(SQSTM1):c.734C>T (p.Ala245Val)

SNV
Germline

Chr5:179825206

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3600632

rs_762767720

2 SubmittersRCV000946105 RCV004962966

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
VCP-related disorder

Criteria Provided
Conflicting Classifications

CA5039387

rs_201610567

3 SubmittersRCV000946065 RCV001395321 RCV004726741

NM_018834.6(MATR3):c.2114G>T (p.Ser705Ile)

SNV
Germline

Chr5:139322933

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 21
MATR3-related disorder

Criteria Provided
Conflicting Classifications

CA3433300

rs_201970174

3 SubmittersRCV001153796 RCV004735914

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

CA1597511

rs_181906086

2 SubmittersRCV000890433 RCV001260194

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

SNV
Germline

Chr2:74366528

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1721808

rs_770872113

3 SubmittersRCV000902820 RCV001139902 RCV001139903 RCV003958170

NM_006415.4(SPTLC1):c.1111G>A (p.Gly371Arg)

SNV
Germline

Chr9:92046024

Conflicting classifications of pathogenicity

Hereditary sensory and autonomic neuropathy type 1
Amyotrophic lateral sclerosis 27, juvenile
Neuropathy, hereditary sensory and autonomic, type 1A

Criteria Provided
Conflicting Classifications

CA5121315

rs_147143593

2 SubmittersRCV000907066 RCV005392533

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

CA2058159

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

CA2058411

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

Criteria Provided
Conflicting Classifications

CA1721816

rs_377519506

3 SubmittersRCV000932597 RCV001394946

NM_013444.4(UBQLN2):c.1715C>T (p.Ala572Val)

SNV
Germline

ChrX:56565588

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 15
not specified

Criteria Provided
Conflicting Classifications

CA10430209

rs_772368310

2 SubmittersRCV002066081 RCV004877683

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

CA3433234

rs_568895329

2 SubmittersRCV000950943

NM_003900.5(SQSTM1):c.205+7G>C

SNV
Germline

Chr5:179821148

Conflicting classifications of pathogenicity

Paget disease of bone 2, early-onset
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
Condition: not provided
Myopathy, distal, with rimmed vacuoles

Criteria Provided
Conflicting Classifications

CA133095079

rs_912066047

4 SubmittersRCV000951194 RCV003141903 RCV004789283

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

CA377368827

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

CA395676123

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

CA350325027

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

CA350328505

rs_1574787779

4 SubmittersRCV000991371 RCV001030773 RCV000995488

NM_015046.7(SETX):c.7195A>G (p.Ile2399Val)

SNV
Germline

Chr9:132271714

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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5296486

rs_150489999

5 SubmittersRCV000992958 RCV001041927 RCV003233910 RCV003233909 RCV004030150

NM_015046.7(SETX):c.7073A>G (p.Asp2358Gly)

SNV
Germline

Chr9:132275283

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

CA5296526

rs_770469636

4 SubmittersRCV000992956 RCV003769317 RCV005480541 RCV004536024

NM_015046.7(SETX):c.6829T>C (p.Leu2277=)

SNV
Germline

Chr9:132278083

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

Criteria Provided
Conflicting Classifications

CA5296618

rs_189444354

3 SubmittersRCV000992954 RCV001167194 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

CA5296849

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

Criteria Provided
Conflicting Classifications

CA5297026

rs_764316153

3 SubmittersRCV000992941 RCV001858763 RCV003233898 RCV003233899

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

CA375322208

rs_1589734405

3 SubmittersRCV000992940 RCV002549816 RCV003233897

NM_015046.7(SETX):c.4417C>T (p.Arg1473Cys)

SNV
Germline

Chr9:132327181

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

CA5297207

rs_781185115

4 SubmittersRCV000992939 RCV003233896 RCV005225186 RCV003233895 RCV002327219

NM_015046.7(SETX):c.3587A>G (p.Asn1196Ser)

SNV
Germline

Chr9:132328011

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5297368

rs_376381668

4 SubmittersRCV001060744 RCV000992933 RCV005236508

NM_015046.7(SETX):c.546C>A (p.Asp182Glu)

SNV
Germline

Chr9:132336468

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA375349737

rs_199748733

3 SubmittersRCV000992943 RCV002346197 RCV002549817

NM_004960.4(FUS):c.676G>A (p.Gly226Ser)

SNV
Germline

Chr16:31185091

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8023751

rs_758970940

3 SubmittersRCV001056530 RCV000992011 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

CA410037333

rs_1601157750

3 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

CA410037589

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

CA347321491

rs_1393363759

3 SubmittersRCV000991876 RCV001858742

NM_015046.7(SETX):c.839-6T>C

SNV
Germline

Chr9:132331454

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5297908

rs_760584527

4 SubmittersRCV000992961 RCV002549820 RCV004526058

NM_001008212.2(OPTN):c.1149-2A>G

SNV
Germline

Chr10:13125944

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA203267951

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

Criteria Provided
Conflicting Classifications

CA5297209

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

CA7083113

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
Inborn genetic diseases
Amyotrophic lateral sclerosis type 6
Tremor, hereditary essential, 4
FUS-related disorder

Criteria Provided
Conflicting Classifications

CA8023461

rs_140883211

5 SubmittersRCV000996260 RCV002409325 RCV001858833 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

CA319334673

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

Criteria Provided
Conflicting Classifications

CA375335489

rs_1473613373

3 SubmittersRCV000995872 RCV003229872 RCV001858823

NM_015046.7(SETX):c.5825T>C (p.Ile1942Thr)

SNV
Germline

Chr9:132297011

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5296889

rs_773379832

7 SubmittersRCV001093196 RCV001095488 RCV000995873 RCV004768767

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

CA480553577

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

CA385596028

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

CA385599596

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

CA410036753

rs_1568809172

5 SubmittersRCV000995880 RCV003886463

NM_015046.7(SETX):c.1505G>A (p.Arg502Gln)

SNV
Germline

Chr9:132330093

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
Amyotrophic lateral sclerosis type 4

Criteria Provided
Conflicting Classifications

CA5297761

rs_750044197

3 SubmittersRCV001000858 RCV003233919 RCV003233920 RCV002549143

NM_015046.7(SETX):c.1221A>G (p.Thr407=)

SNV
Germline

Chr9:132330377

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5297810

rs_377618570

4 SubmittersRCV001168148 RCV001000987 RCV001167525 RCV004536039 RCV001499712

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

SNV
Germline

Chr2:74370247

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1722212

rs_142318791

3 SubmittersRCV001047005 RCV002553156 RCV003973033

NM_003900.5(SQSTM1):c.374A>G (p.Asn125Ser)

SNV
Germline

Chr5:179823930

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3600491

rs_769325755

4 SubmittersRCV001041398 RCV001546334 RCV004536076 RCV005436964

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

CA362453763

rs_1247551175

1 SubmittersRCV001060204

NM_015046.7(SETX):c.7982A>G (p.Lys2661Arg)

SNV
Germline

Chr9:132264291

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

CA5296279

rs_199921065

5 SubmittersRCV001044932 RCV002409408 RCV002261259 RCV004545025

NM_015046.7(SETX):c.6161G>A (p.Ser2054Asn)

SNV
Germline

Chr9:132288597

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

Criteria Provided
Conflicting Classifications

CA5296819

rs_200778360

3 SubmittersRCV001038594 RCV001167775 RCV001169646 RCV003141950

NM_015046.7(SETX):c.5503G>A (p.Glu1835Lys)

SNV
Germline

Chr9:132300675

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
SETX-related disorder
Amyotrophic lateral sclerosis type 4

Criteria Provided
Conflicting Classifications

CA5296969

rs_143133190

5 SubmittersRCV001060795 RCV002473187 RCV002348441 RCV003233942 RCV004536120 RCV003233943

NM_015046.7(SETX):c.5279C>T (p.Ala1760Val)

SNV
Germline

Chr9:132311852

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

CA5297025

rs_758411198

3 SubmittersRCV001067682 RCV002348469 RCV003233946 RCV003233945

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

CA5297076

rs_756770572

4 SubmittersRCV001067074 RCV001288406 RCV004536130

NM_015046.7(SETX):c.3299A>C (p.Asn1100Thr)

SNV
Germline

Chr9:132328299

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5297434

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

CA5297847

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

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

CA5297932

rs_753713810

4 SubmittersRCV001037092 RCV002473168 RCV004031020 RCV004536065

NM_007126.5(VCP):c.648A>G (p.Ile216Met)

SNV
Germline

Chr9:35064214

Likely pathogenic

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

Criteria Provided
Single Submitter

CA373286752

rs_1828783140

2 SubmittersRCV001038094 RCV002463580

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

CA7534517

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

Criteria Provided
Conflicting Classifications

CA7534565

rs_371716779

4 SubmittersRCV001042695 RCV001759744 RCV002468114 RCV002468115 RCV002339213

NM_025137.4(SPG11):c.3558C>G (p.Asp1186Glu)

SNV
Germline

Chr15:44600595

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7534902

rs_201902382

5 SubmittersRCV001065139 RCV001287997 RCV002468141 RCV002339328 RCV002468140

NM_025137.4(SPG11):c.1384T>C (p.Cys462Arg)

SNV
Germline

Chr15:44651563

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

CA7535567

rs_139019255

5 SubmittersRCV001063652 RCV001862795 RCV002393309 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

CA7535617

rs_144403346

3 SubmittersRCV001045167 RCV001759765 RCV002468117 RCV002468118

NM_004960.4(FUS):c.238G>A (p.Gly80Ser)

SNV
Germline

Chr16:31183905

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 6
Tremor, hereditary essential, 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8023549

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
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9957687

rs_201841018

4 SubmittersRCV001036363 RCV001095404 RCV004720043

NM_000454.5(SOD1):c.63C>G (p.Phe21Leu)

SNV
Germline

Chr21:31659832

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA410036078

rs_1555836170

2 SubmittersRCV001065949 RCV005036375

NM_000454.5(SOD1):c.255G>C (p.Leu85Phe)

SNV
Germline

Chr21:31667273

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA410037403

rs_1315541036

3 SubmittersRCV001061075 RCV005409768

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

CA410037421

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

CA395676130

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
CHMP2B-related disorder
Amyotrophic lateral sclerosis

Criteria Provided
Conflicting Classifications

CA2500934

rs_200792883

5 SubmittersRCV001092352 RCV001241565 RCV004746237 RCV005367717

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

CA5297804

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

CA5298078

rs_368932301

6 SubmittersRCV001093201 RCV001242996 RCV004536143

NM_007375.4(TARDBP):c.893G>T (p.Gly298Val)

SNV
Germline

Chr1:11022302

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 10
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
Amyotrophic lateral sclerosis type 10

Criteria Provided
Conflicting Classifications

CA338364696

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

CA338367623

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

CA338120165

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

CA338127080

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

CA338164712

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

CA350320673

rs_1689580631

1 SubmittersRCV001095480

NM_020919.4(ALS2):c.4381C>T (p.Arg1461Ter)

SNV
Germline

Chr2:201707891

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA63980825

rs_374047961

4 SubmittersRCV001391373 RCV001095479

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
ERBB4-related disorder

Criteria Provided
Conflicting Classifications

CA2087467

rs_144311212

3 SubmittersRCV001095390 RCV001856284 RCV004751881

NM_005235.3(ERBB4):c.308G>A (p.Arg103His)

SNV
Germline

Chr2:211947543

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis
ERBB4-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2088466

rs_754487821

3 SubmittersRCV001095485 RCV003396744 RCV002554875

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

SNV
Germline

Chr2:74365985

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1721712

rs_373818927

4 SubmittersRCV001095496 RCV003396746 RCV005256741 RCV002554876

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

SNV
Germline

Chr2:74378185

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1722603

rs_751177222

2 SubmittersRCV001095500 RCV001856287

NM_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

CA3956101

rs_749233172

2 SubmittersRCV001095517 RCV001555730

NM_182961.4(SYNE1):c.23524C>T (p.Arg7842Ter)

SNV
Germline

Chr6:152176497

Pathogenic

Juvenile amyotrophic lateral sclerosis
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA4053575

rs_775935265

2 SubmittersRCV001095483 RCV004720066

NM_182961.4(SYNE1):c.22930C>T (p.Gln7644Ter)

SNV
Germline

Chr6:152206257

Pathogenic

Juvenile amyotrophic lateral sclerosis

Criteria Provided
Single Submitter

CA366094902

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

Criteria Provided
Conflicting Classifications

CA5296888

rs_141440621

5 SubmittersRCV001095430 RCV004733155 RCV001211387 RCV003233947 RCV005418996

NM_005866.4(SIGMAR1):c.451A>G (p.Thr151Ala)

SNV
Germline

Chr9:34635853

Likely pathogenic

Amyotrophic lateral sclerosis type 16

Criteria Provided
Single Submitter

CA373272940

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

CA5035856

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

CA373288667

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

CA378155660

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

CA6770944

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
Hereditary spastic paraplegia 10

Criteria Provided
Conflicting Classifications

CA385517000

rs_1882640177

3 SubmittersRCV001095391 RCV002555972 RCV005253723

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

CA385599317

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

CA392235849

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

CA393576559

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

CA395677397

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

CA395677457

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

CA395677534

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

CA395677576

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

CA410035885

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

CA410036005

rs_1568807400

4 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

CA410036099

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

CA410036578

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

CA410037278

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

CA410037300

rs_2049594311

1 SubmittersRCV001095394

NM_000454.5(SOD1):c.262G>A (p.Val88Met)

SNV
Germline

Chr21:31667280

Pathogenic/Likely pathogenic

Amyotrophic lateral sclerosis type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA410037419

rs_1568810641

3 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

CA410037664

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

CA410037720

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

CA410037749

rs_1568811445

4 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

CA410037798

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
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA410037821

rs_1476760624

3 SubmittersRCV001095401 RCV004702635

NM_004960.4(FUS):c.1394-1G>T

SNV
Germline

Chr16:31190962

Pathogenic

Amyotrophic lateral sclerosis type 6

Criteria Provided
Single Submitter

CA395675622

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
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
Amyotrophic lateral sclerosis type 10
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA586300

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
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
Amyotrophic lateral sclerosis type 10

Criteria Provided
Conflicting Classifications

CA586302

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
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
Amyotrophic lateral sclerosis type 10
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA586470

rs_547979470

3 SubmittersRCV001096236 RCV002557978 RCV004963111

NM_001008212.2(OPTN):c.812G>A (p.Arg271His)

SNV
Germline

Chr10:13122417

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 12
Primary open angle glaucoma
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5410760

rs_201896586

3 SubmittersRCV001103688 RCV001103687 RCV001759871 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
Amyotrophic lateral sclerosis type 12
Glaucoma 1, open angle, E
Primary open angle glaucoma
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5410767

rs_143727251

4 SubmittersRCV001103689 RCV001103690 RCV003769082 RCV004032097 RCV004792723

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
OPTN-related disorder

Criteria Provided
Conflicting Classifications

CA5411046

rs_774245711

3 SubmittersRCV001107407 RCV001107408 RCV002555048 RCV004734016

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

CA7533836

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

CA7534035

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

CA270079916

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
FUS-related disorder

Criteria Provided
Conflicting Classifications

CA8023542

rs_757454595

4 SubmittersRCV001120536 RCV001248672 RCV002429767 RCV004746243

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

CA8023622

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
Amyotrophic lateral sclerosis type 6
Tremor, hereditary essential, 4
FUS-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8023625

rs_144342946

4 SubmittersRCV001115627 RCV002556271 RCV004746239 RCV002339405

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

CA8024024

rs_201533156

4 SubmittersRCV001118681 RCV001325702 RCV003413923 RCV004526082

NM_020919.4(ALS2):c.4566T>C (p.Phe1522=)

SNV
Germline

Chr2:201706860

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA430668210

rs_1214757167

2 SubmittersRCV001143426 RCV001143427 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
ALS2-related motor neuron disease

Criteria Provided
Conflicting Classifications

CA350317000

rs_1242751535

4 SubmittersRCV001139099 RCV001139098 RCV001856786 RCV003363119 RCV005367730

NM_020919.4(ALS2):c.3345C>T (p.Tyr1115=)

SNV
Germline

Chr2:201725358

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2057910

rs_557709223

4 SubmittersRCV001760096 RCV001136964 RCV001136965 RCV002070598 RCV004986833

NM_020919.4(ALS2):c.2802T>C (p.Asn934=)

SNV
Germline

Chr2:201728551

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA430645469

rs_1265678329

2 SubmittersRCV001141835 RCV001141834 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

CA430832870

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

CA2058665

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
Neuronopathy, distal hereditary motor, type 7B
Perry syndrome
DCTN1-related disorder

Criteria Provided
Conflicting Classifications

CA1721345

rs_146083590

5 SubmittersRCV001140456 RCV001140457 RCV002365810 RCV001858917 RCV004726899

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

SNV
Germline

Chr2:74362130

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA50474016

rs_1032786897

3 SubmittersRCV001137570 RCV001137569 RCV002070612 RCV003456474

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

SNV
Germline

Chr2:74363348

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1721531

rs_769145486

2 SubmittersRCV001140573 RCV001140572 RCV002556995

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

SNV
Germline

Chr2:74370534

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1722254

rs_771325809

5 SubmittersRCV001142643 RCV001142642 RCV001448727 RCV003898138 RCV005232134 RCV005550143

NM_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

CA9998982

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

CA2057509

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

CA2058338

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

CA2500882

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

CA2501012

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

CA128744124

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

CA3433421

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
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
Paget disease of bone 2, early-onset
SQSTM1-related disorder

Criteria Provided
Conflicting Classifications

CA3600513

rs_775988188

3 SubmittersRCV001151636 RCV001343979 RCV004734034

NM_003900.5(SQSTM1):c.615C>T (p.Asn205=)

SNV
Germline

Chr5:179824265

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

CA3600578

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

CA3956106

rs_776928002

2 SubmittersRCV001152790 RCV001152791 RCV001465252

NM_015046.7(SETX):c.*2190A>G

SNV
Germline

Chr9:132262049

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA200792509

rs_531640605

1 SubmittersRCV001168579 RCV001168578

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

CA200792649

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

CA200793094

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

Criteria Provided
Conflicting Classifications

CA5296303

rs_747616517

3 SubmittersRCV001169540 RCV001428326 RCV001169541 RCV004998674

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

CA375322887

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

Criteria Provided
Conflicting Classifications

CA5296709

rs_374110190

5 SubmittersRCV001167195 RCV001167770 RCV001847183 RCV001760116 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
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5296748

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

Criteria Provided
Conflicting Classifications

CA5296894

rs_200571606

3 SubmittersRCV001165671 RCV001165670 RCV005225249 RCV002355130

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

Criteria Provided
Conflicting Classifications

CA5297048

rs_200499115

7 SubmittersRCV001167852 RCV001167851 RCV001664719 RCV001847184 RCV001700982 RCV001486121 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

CA5297096

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

Criteria Provided
Conflicting Classifications

CA5297188

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

Criteria Provided
Conflicting Classifications

CA5297511

rs_144154512

2 SubmittersRCV001165885 RCV001168779 RCV001458668

NM_015046.7(SETX):c.2698A>G (p.Thr900Ala)

SNV
Germline

Chr9:132328900

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA375334337

rs_1320466105

5 SubmittersRCV001165889 RCV001165888 RCV003482332 RCV004702660 RCV004733169 RCV005225250

NM_015046.7(SETX):c.2278A>G (p.Thr760Ala)

SNV
Germline

Chr9:132329320

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5297632

rs_373647065

4 SubmittersRCV001168073 RCV001168074 RCV001531746 RCV002445405 RCV001859091

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

Criteria Provided
Conflicting Classifications

CA5297765

rs_779544809

3 SubmittersRCV001165959 RCV001165960 RCV002558616 RCV005480587

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

Criteria Provided
Conflicting Classifications

CA5297856

rs_768437607

5 SubmittersRCV001168149 RCV001168150 RCV001664720 RCV001238833 RCV002339420

NM_015046.7(SETX):c.540A>G (p.Lys180=)

SNV
Germline

Chr9:132336474

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
SETX-related disorder

Criteria Provided
Conflicting Classifications

CA5298006

rs_757470639

4 SubmittersRCV001166020 RCV001253917 RCV001200194 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
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4

Criteria Provided
Conflicting Classifications

CA467523293

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

CA200842030

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

CA200843592

rs_184570956

1 SubmittersRCV001166068 RCV001254001

NM_007126.5(VCP):c.794T>C (p.Phe265Ser)

SNV
Germline

Chr9:35062995

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

CA373286351

rs_1828756507

2 SubmittersRCV001167604 RCV001167605 RCV004768884

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
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

CA5039492

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

Criteria Provided
Conflicting Classifications

CA5296743

rs_752365500

3 SubmittersRCV001167772 RCV001167771 RCV002068029 RCV004998673

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

CA192695224

rs_188935092

2 SubmittersRCV001165910 RCV001165911 RCV002264211

NM_007126.5(VCP):c.446-4G>A

SNV
Germline

Chr9:35065385

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
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6

Criteria Provided
Conflicting Classifications

CA5039455

rs_370700002

2 SubmittersRCV001168236 RCV001168237 RCV001873558

NM_015046.7(SETX):c.5842A>G (p.Met1948Val)

SNV
Germline

Chr9:132296994

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

CA5296887

rs_762267386

3 SubmittersRCV001171884 RCV002559645 RCV002355133

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

CA410037406

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

CA5296646

rs_747913385

3 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
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Inborn genetic diseases
Amyotrophic lateral sclerosis type 4
Condition: not provided

Criteria Provided
Conflicting Classifications

CA375347213

rs_1237541645

4 SubmittersRCV001224042 RCV003234001 RCV002447126 RCV003234002 RCV002473228

NM_015046.7(SETX):c.267A>G (p.Ile89Met)

SNV
Germline

Chr9:132346382

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

CA5298091

rs_767232097

3 SubmittersRCV003233997 RCV003233998 RCV001219943 RCV002562491

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

CA7535973

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

Criteria Provided
Conflicting Classifications

CA9924215

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
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED

Criteria Provided
Single Submitter

CA338366763

rs_1304706298

1 SubmittersRCV001207766

NM_007375.4(TARDBP):c.1132A>G (p.Asn378Asp)

SNV
Germline

Chr1:11022541

Likely pathogenic

Amyotrophic lateral sclerosis type 10
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED

Criteria Provided
Single Submitter

CA338368255

rs_1557660662

1 SubmittersRCV001208497

NM_015046.7(SETX):c.2788A>G (p.Ser930Gly)

SNV
Germline

Chr9:132328810

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
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5297530

rs_770694223

4 SubmittersRCV001207270 RCV001706721 RCV003233992 RCV004822322

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

CA200812956

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

Criteria Provided
Conflicting Classifications

CA7534127

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

CA410037532

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

CA2058244

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

CA375337869

rs_1844047388

1 SubmittersRCV001226904

NM_015046.7(SETX):c.5552G>A (p.Arg1851His)

SNV
Germline

Chr9:132298309

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
not specified

Criteria Provided
Conflicting Classifications

CA200820231

rs_137978070

6 SubmittersRCV001228638 RCV001509373 RCV003234005 RCV003234006 RCV003479299

NM_015046.7(SETX):c.1889C>T (p.Thr630Met)

SNV
Germline

Chr9:132329709

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5297701

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

Criteria Provided
Conflicting Classifications

CA50473946

rs_969899022

3 SubmittersRCV001239607 RCV002348816 RCV004746286

NM_015046.7(SETX):c.7972A>G (p.Arg2658Gly)

SNV
Germline

Chr9:132264301

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5296281

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

CA5296351

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

CA7535721

rs_764439012

3 SubmittersRCV001244779 RCV002221269 RCV002468205 RCV002468204

NM_025137.4(SPG11):c.5866+1G>A

SNV
Germline

Chr15:44583813

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA7534333

rs_765725393

8 SubmittersRCV001226466 RCV005012641 RCV001780156

NM_000454.5(SOD1):c.377A>C (p.Asp126Ala)

SNV
Germline

Chr21:31668490

Likely pathogenic

Amyotrophic lateral sclerosis type 1

Criteria Provided
Single Submitter

CA410037667

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

CA2087361

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

CA347352750

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

CA6771016

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

CA200812627

rs_906452681

2 SubmittersRCV001260211 RCV003770349

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

CA9937357

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

CA10171733

rs_41311143

3 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

CA10174327

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

CA5298080

rs_538372427

3 SubmittersRCV001267159 RCV001880135 RCV003234018 RCV003234019

NM_025137.4(SPG11):c.2431C>T (p.Gln811Ter)

SNV
Germline

Chr15:44622233

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA7535257

rs_756134516

7 SubmittersRCV001268650 RCV001386275 RCV002451632 RCV005012705

NM_007126.5(VCP):c.475C>A (p.Arg159Ser)

SNV
Germline

Chr9:35065352

Pathogenic

Amyotrophic lateral sclerosis type 6

No Assertion Criteria Provided

CA373289529

rs_387906789

1 SubmittersRCV001271083

NM_007126.5(VCP):c.1184A>G (p.Asp395Gly)

SNV
Germline

Chr9:35061587

Likely pathogenic

FRONTOTEMPORAL DEMENTIA WITHOUT AMYOTROPHIC LATERAL SCLEROSIS 6, WITH NEUROFIBRILLARY TANGLES
Condition: not provided

Criteria Provided
Single Submitter

CA373282926

rs_1828721782

2 SubmittersRCV001271084 RCV004797923

NM_001761.3(CCNF):c.1861A>G (p.Ser621Gly)

SNV
Germline

Chr16:2455540

Pathogenic/Likely pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 5
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA7842751

rs_778264897

4 SubmittersRCV001281085 RCV003426024

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

CA276812362

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

CA7842754

rs_771621178

1 SubmittersRCV001281088

NM_022173.4(TIA1):c.1085C>T (p.Pro362Leu)

SNV
Germline

Chr2:70212795

Conflicting classifications of pathogenicity

Condition: not provided
AMYOTROPHIC LATERAL SCLEROSIS 26 WITH FRONTOTEMPORAL DEMENTIA
Welander distal myopathy

Criteria Provided
Conflicting Classifications

CA1697401

rs_757332023

3 SubmittersRCV003132375 RCV001281089 RCV001365839

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

CA395878910

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
Short-rib thoracic dysplasia 6 with or without polydactyly

Criteria Provided
Single Submitter

CA358732134

rs_1744312712

2 SubmittersRCV001283787 RCV004762049

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

CA5296283

rs_745394467

4 SubmittersRCV001812480 RCV002418877 RCV003234022 RCV003770443 RCV003234023

NM_015046.7(SETX):c.1140T>G (p.Pro380=)

SNV
Germline

Chr9:132330458

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5297815

rs_140553290

5 SubmittersRCV001847229 RCV001813050 RCV002542980 RCV004545176

NM_003900.5(SQSTM1):c.302-4G>A

SNV
Germline

Chr5:179823854

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

CA1139659286

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

CA5296886

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

Criteria Provided
Conflicting Classifications

CA5297203

rs_759545112

3 SubmittersRCV001288405 RCV002537972 RCV002327624

NM_015046.7(SETX):c.4252C>G (p.Pro1418Ala)

SNV
Germline

Chr9:132327346

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5297233

rs_747356601

3 SubmittersRCV001288401 RCV004733232 RCV005225355

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

CA5297665

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

CA5297942

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
SOD1-related disorder

Criteria Provided
Conflicting Classifications

CA9998924

rs_374610141

3 SubmittersRCV001289237 RCV002537988 RCV004746306

NM_013254.4(TBK1):c.1318C>T (p.Arg440Ter)

SNV
Germline

Chr12:64485995

Pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
Autoinflammation with arthritis and vasculitis

Criteria Provided
Single Submitter

CA385601326

rs_769588220

3 SubmittersRCV001291944 RCV004601430

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

SNV
Germline

Chr2:74367968

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1721986

rs_200057343

3 SubmittersRCV001301332 RCV002418908 RCV001336113

NM_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

CA5296537

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
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5297183

rs_138195434

4 SubmittersRCV001298212 RCV002341587 RCV004692431

NM_015046.7(SETX):c.3589G>A (p.Asp1197Asn)

SNV
Germline

Chr9:132328009

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5297367

rs_149558692

2 SubmittersRCV001305121 RCV005241450

NM_007126.5(VCP):c.265C>T (p.Arg89Trp)

SNV
Germline

Chr9:35067928

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

Criteria Provided
Conflicting Classifications

CA373293559

rs_1828865320

2 SubmittersRCV001308126 RCV004720847

NM_025137.4(SPG11):c.6278G>A (p.Arg2093His)

SNV
Germline

Chr15:44572748

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

CA7534188

rs_376817637

4 SubmittersRCV001302664 RCV002357100 RCV002261332 RCV002468217 RCV002468218

NM_015046.7(SETX):c.382C>T (p.Arg128Cys)

SNV
Germline

Chr9:132346267

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5298076

rs_552476047

4 SubmittersRCV001311800 RCV003234038 RCV003246866 RCV001871780 RCV003234039

NM_003900.5(SQSTM1):c.1A>G (p.Met1Val)

SNV
Germline

Chr5:179820937

Conflicting classifications of pathogenicity

Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
Paget disease of bone 2, early-onset
Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset
Condition: not provided

Criteria Provided
Conflicting Classifications

CA362441988

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
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5296387

rs_376524608

3 SubmittersRCV001324450 RCV002546112 RCV004998826

NM_000454.5(SOD1):c.143T>C (p.Val48Ala)

SNV
Germline

Chr21:31663860

Likely pathogenic

Amyotrophic lateral sclerosis type 1

Criteria Provided
Single Submitter

CA410036743

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

CA385600374

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

CA410037335

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
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

CA5297988

rs_761180215

6 SubmittersRCV001333803 RCV003234049 RCV001865790 RCV003222308 RCV002377429

NM_001008212.2(OPTN):c.785C>A (p.Ser262Ter)

SNV
Germline

Chr10:13122390

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA5410755

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

CA270062772

rs_146240471

2 SubmittersRCV001336696 RCV003495243

NM_007126.5(VCP):c.577-2A>G

SNV
Germline

Chr9:35064287

Likely pathogenic

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

Criteria Provided
Single Submitter

CA373287295

rs_1828784075

1 SubmittersRCV001341264

NM_006415.4(SPTLC1):c.1393A>G (p.Lys465Glu)

SNV
Germline

Chr9:92032494

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5121190

rs_773640417

3 SubmittersRCV001346684 RCV002276698 RCV005361552

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

SNV
Germline

Chr2:74378079

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA347322090

rs_886039228

2 SubmittersRCV001372956 RCV003229051

NM_015046.7(SETX):c.7810G>A (p.Val2604Met)

SNV
Germline

Chr9:132264463

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA375322611

rs_757554863

2 SubmittersRCV001364479 RCV004952822

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

CA5296357

rs_147705644

4 SubmittersRCV001365341 RCV003128783 RCV002404871

NM_015046.7(SETX):c.3505A>G (p.Met1169Val)

SNV
Germline

Chr9:132328093

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

CA5297390

rs_573849874

4 SubmittersRCV001371621 RCV002070244 RCV005480728

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

CA5297516

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
Condition: not provided
SETX-related disorder

Criteria Provided
Conflicting Classifications

CA5298096

rs_201864041

4 SubmittersRCV001367166 RCV002456568 RCV004720875 RCV004528488

NM_004960.4(FUS):c.1317T>C (p.Ser439=)

SNV
Germline

Chr16:31190766

Conflicting classifications of pathogenicity

Tremor, hereditary essential, 4
Amyotrophic lateral sclerosis type 6
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8024021

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

CA410037711

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

CA350319243

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

CA373272722

rs_1242817438

1 SubmittersRCV001378556

NM_005866.4(SIGMAR1):c.152-2A>T

SNV
Germline

Chr9:34637422

Likely pathogenic

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

Criteria Provided
Single Submitter

CA373275376

rs_2132329744

1 SubmittersRCV001378960

NM_001008212.2(OPTN):c.1401+1G>A

SNV
Germline

Chr10:13127904

Likely pathogenic

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

Criteria Provided
Single Submitter

CA376030131

rs_1370982012

1 SubmittersRCV001377787

NM_025137.4(SPG11):c.443-1G>A

SNV
Germline

Chr15:44659304

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

CA270109715

rs_1040633382

2 SubmittersRCV001377267 RCV004796615

NM_000454.5(SOD1):c.304G>C (p.Asp102His)

SNV
Germline

Chr21:31667322

Pathogenic

Amyotrophic lateral sclerosis type 1

Criteria Provided
Single Submitter

CA410037502

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

CA410037660

rs_1568811366

2 SubmittersRCV001378934 RCV002255185

NM_003900.5(SQSTM1):c.244G>T (p.Glu82Ter)

SNV
Germline

Chr5:179822996

Pathogenic

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

Criteria Provided
Single Submitter

CA362443062

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

CA3600862

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

CA385606473

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
Juvenile amyotrophic lateral sclerosis
Charcot-Marie-Tooth disease axonal type 2X

Criteria Provided
Single Submitter

CA392227288

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
Multiple Submitters
No Conflicts

CA410037459

rs_121912438

2 SubmittersRCV001384618

NM_015046.7(SETX):c.6843-4A>T

SNV
Germline

Chr9:132277156

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA860623278

rs_1466427179

2 SubmittersRCV001412584 RCV002368290

NM_015046.7(SETX):c.719-4A>G

SNV
Germline

Chr9:132334731

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

CA5297952

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
not specified

Criteria Provided
Conflicting Classifications

CA5039457

rs_541980846

3 SubmittersRCV001394423 RCV002329415 RCV005432701

NM_213720.3(CHCHD10):c.42-5C>T

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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA322574089

rs_868345557

2 SubmittersRCV001395837 RCV002329417

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

SNV
Germline

Chr2:74366023

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1721724

rs_749706596

2 SubmittersRCV001440364 RCV003160771

NM_003900.5(SQSTM1):c.908C>T (p.Ala303Val)

SNV
Germline

Chr5:179833185

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

CA3600721

rs_143746604

2 SubmittersRCV001422431 RCV003317495

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

SNV
Germline

Chr2:74377731

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1261398783

rs_1675307447

2 SubmittersRCV001477056 RCV003375315

NM_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

CA5297905

rs_141736312

3 SubmittersRCV001450719 RCV003886511 RCV004533763

NM_003900.5(SQSTM1):c.548G>A (p.Arg183His)

SNV
Germline

Chr5:179824198

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3600563

rs_535606152

2 SubmittersRCV001482351 RCV004681201

NM_003900.5(SQSTM1):c.1273G>A (p.Gly425Arg)

SNV
Germline

Chr5:179836543

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

CA3600875

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
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Inborn genetic diseases
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

CA5296280

rs_567672087

6 SubmittersRCV001509368 RCV003234071 RCV002421162 RCV003771558 RCV003234072 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

CA5296344

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

Criteria Provided
Conflicting Classifications

CA5297205

rs_376678876

4 SubmittersRCV001509375 RCV002564285 RCV001847286

NM_000454.5(SOD1):c.413C>T (p.Thr138Ile)

SNV
Germline

Chr21:31668526

Pathogenic/Likely pathogenic

Condition: not provided
Amyotrophic lateral sclerosis type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA410037753

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

CA376030126

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

CA5297639

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

CA413378993

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

CA350321784

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

CA410037432

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
MATR3-related disorder
Amyotrophic lateral sclerosis type 21
not specified

Criteria Provided
Conflicting Classifications

CA3433400

rs_774158046

4 SubmittersRCV001560577 RCV004536183 RCV001865974 RCV005437270

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
SOD1-related disorder

Criteria Provided
Conflicting Classifications

CA319334141

rs_1030039318

4 SubmittersRCV001565742 RCV001882667 RCV004746428

NM_003900.5(SQSTM1):c.824G>A (p.Ser275Asn)

SNV
Germline

Chr5:179833101

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3600700

rs_201923000

5 SubmittersRCV001576971 RCV005437282 RCV001882690 RCV004734240 RCV002569088

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
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

CA5297410

rs_62576475

6 SubmittersRCV001579904 RCV001847306 RCV002458544 RCV003234084 RCV003234085 RCV003771763

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

CA410037659

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

CA1123167041

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

Criteria Provided
Conflicting Classifications

CA200814391

rs_370363342

2 SubmittersRCV001663589 RCV003771827

NM_015046.7(SETX):c.1670G>A (p.Arg557Gln)

SNV
Germline

Chr9:132329928

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

Criteria Provided
Conflicting Classifications

CA5297734

rs_548433078

3 SubmittersRCV001663590 RCV004771505 RCV005225449

NM_015046.7(SETX):c.4517T>C (p.Met1506Thr)

SNV
Germline

Chr9:132327081

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
Inborn genetic diseases
SETX-related disorder

Criteria Provided
Conflicting Classifications

CA5297184

rs_199974622

6 SubmittersRCV001663594 RCV001882760 RCV003234091 RCV003234092 RCV002334641 RCV004542065

NM_015046.7(SETX):c.2045A>G (p.His682Arg)

SNV
Germline

Chr9:132329553

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5297673

rs_373850132

2 SubmittersRCV001727490 RCV005225457

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

CA200811699

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

Criteria Provided
Conflicting Classifications

CA5297229

rs_371541705

5 SubmittersRCV001752398 RCV002329733 RCV003234111 RCV002540427 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
SETX-related disorder
Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2

Criteria Provided
Conflicting Classifications

CA5297573

rs_567711722

5 SubmittersRCV001758833 RCV001847330 RCV003446904 RCV004536293 RCV002540424

NM_015046.7(SETX):c.4600G>A (p.Asp1534Asn)

SNV
Germline

Chr9:132326998

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5297169

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

CA6669005

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

CA133109718

rs_765610848

2 SubmittersRCV001868769 RCV003238467

NM_001008212.2(OPTN):c.436C>T (p.Gln146Ter)

SNV
Germline

Chr10:13112519

Likely pathogenic

Amyotrophic lateral sclerosis type 12

Criteria Provided
Single Submitter

rs_2131488944

1 SubmittersRCV005410260

NM_015046.7(SETX):c.4136A>G (p.His1379Arg)

SNV
Germline

Chr9:132327462

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5297264

rs_181158146

3 SubmittersRCV002541275 RCV004968286 RCV001794763

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

CA5298102

rs_771481623

2 SubmittersRCV001799572 RCV003772202

NM_015046.7(SETX):c.2985A>C (p.Lys995Asn)

SNV
Germline

Chr9:132328613

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA375332961

rs_1285317289

2 SubmittersRCV001869470 RCV001811831

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

CA3137557

rs_773156346

4 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

CA395677215

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

CA6550892

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

CA375345553

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
Single Submitter

CA3956359

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

CA5039250

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
SETX-related disorder

Criteria Provided
Conflicting Classifications

CA5296348

rs_145345675

4 SubmittersRCV001816518 RCV002541948 RCV004733382

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

CA350326062

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

CA6668769

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

CA410037829

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

Criteria Provided
Conflicting Classifications

CA5297809

rs_769913556

4 SubmittersRCV001847553 RCV002227284 RCV002543367 RCV004998965

NM_015046.7(SETX):c.2427C>G (p.Ile809Met)

SNV
Germline

Chr9:132329171

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5297593

rs_765654690

2 SubmittersRCV001847558 RCV003772374

NM_015046.7(SETX):c.2711A>G (p.Asn904Ser)

SNV
Germline

Chr9:132328887

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5297548

rs_143265750

3 SubmittersRCV001847559 RCV003482373 RCV005225524

NM_015046.7(SETX):c.304A>G (p.Thr102Ala)

SNV
Germline

Chr9:132346345

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

CA5298085

rs_770962447

3 SubmittersRCV002034740 RCV001848119 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

CA5297379

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
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

CA5298146

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

Criteria Provided
Conflicting Classifications

CA467428419

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

Criteria Provided
Conflicting Classifications

CA200818192

rs_1045096306

4 SubmittersRCV001848125 RCV002074408 RCV004998966 RCV004536353

NM_015046.7(SETX):c.667C>A (p.Leu223Ile)

SNV
Germline

Chr9:132336347

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5297986

rs_774068411

5 SubmittersRCV001848128 RCV002361084 RCV003234119 RCV003234120 RCV004536354 RCV005213613

NM_015046.7(SETX):c.77C>T (p.Pro26Leu)

SNV
Germline

Chr9:132349352

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

CA5298138

rs_377617692

3 SubmittersRCV001848131 RCV003120722 RCV005482909

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

CA7534883

rs_370282739

3 SubmittersRCV001848193 RCV001885409 RCV002468335 RCV002468336

NM_015046.7(SETX):c.1114A>C (p.Thr372Pro)

SNV
Germline

Chr9:132330484

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5297819

rs_145145045

3 SubmittersRCV001848614 RCV002440902 RCV005213616

NM_015046.7(SETX):c.1791C>G (p.Phe597Leu)

SNV
Germline

Chr9:132329807

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA375338732

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

CA385600519

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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6653307

rs_751496558

3 SubmittersRCV001924858 RCV002490120 RCV005584933

NM_015046.7(SETX):c.5661A>G (p.Gln1887=)

SNV
Germline

Chr9:132298200

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA467428659

rs_1589671916

2 SubmittersRCV001919822 RCV004998992

NM_001008212.2(OPTN):c.370-1G>A

SNV
Germline

Chr10:13112452

Likely pathogenic

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

Criteria Provided
Single Submitter

CA376027765

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

CA375343126

rs_2131461009

1 SubmittersRCV001872206

NM_004738.5(VAPB):c.550C>T (p.Arg184Trp)

SNV
Germline

Chr20:58441060

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9924280

rs_750394268

2 SubmittersRCV003166941 RCV002254732

NM_007126.5(VCP):c.273C>A (p.Asn91Lys)

SNV
Germline

Chr9:35067920

Likely pathogenic

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

Criteria Provided
Single Submitter

CA373293471

rs_1563980966

1 SubmittersRCV002015462

NM_015046.7(SETX):c.3605A>G (p.Asp1202Gly)

SNV
Germline

Chr9:132327993

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

CA5297363

rs_138167195

3 SubmittersRCV002036086 RCV002454319 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

CA5297323

rs_202204341

2 SubmittersRCV001889286 RCV002361171

NM_015046.7(SETX):c.1732A>G (p.Ser578Gly)

SNV
Germline

Chr9:132329866

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5297727

rs_770280073

2 SubmittersRCV001889313 RCV005409074

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

SNV
Germline

Chr2:74361540

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1721346

rs_538932463

3 SubmittersRCV001881760 RCV004693874 RCV005626533

NM_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

CA385600515

rs_2136078402

1 SubmittersRCV002019738

NM_025137.4(SPG11):c.258-2A>C

SNV
Germline

Chr15:44660618

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA7535887

rs_781665076

3 SubmittersRCV002012964 RCV002458967 RCV005008389

NM_213720.3(CHCHD10):c.42-5C>G

SNV
Germline

Chr22:23767598

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
CHCHD10-related disorder

Criteria Provided
Conflicting Classifications

CA751787945

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

Criteria Provided
Multiple Submitters
No Conflicts

CA3137369

rs_201769828

4 SubmittersRCV001971012 RCV002497931 RCV005437455

NM_015046.7(SETX):c.6805T>A (p.Ser2269Thr)

SNV
Germline

Chr9:132278107

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA375330917

rs_1421665944

3 SubmittersRCV001982434 RCV004043685 RCV004728977

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
Condition: not provided

Criteria Provided
Conflicting Classifications

CA200823213

rs_929798338

4 SubmittersRCV001985315 RCV003234143 RCV003234144 RCV002344097 RCV004762270

NM_007375.4(TARDBP):c.1069G>C (p.Gly357Arg)

SNV
Germline

Chr1:11022478

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 10
Amyotrophic lateral sclerosis type 10
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED

Criteria Provided
Conflicting Classifications

CA338367703

rs_1553159719

2 SubmittersRCV005412337 RCV001985349

NM_015046.7(SETX):c.998A>G (p.Asn333Ser)

SNV
Germline

Chr9:132331289

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

CA5297880

rs_538829833

3 SubmittersRCV001977566 RCV002074446 RCV003234147 RCV003234148

NM_003900.5(SQSTM1):c.970-2A>G

SNV
Germline

Chr5:179833585

Likely pathogenic

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

Criteria Provided
Single Submitter

CA362452294

rs_2113512370

1 SubmittersRCV001977620

NM_007126.5(VCP):c.273C>G (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

CA373293470

rs_1563980966

1 SubmittersRCV001908873

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

CA373289580

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

CA373289608

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

CA373289661

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
Amyotrophic lateral sclerosis type 12
Primary open angle glaucoma
Inborn genetic diseases
OPTN-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5410944

rs_371470839

4 SubmittersRCV001999337 RCV002389016 RCV004734390 RCV005242149

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

SNV
Germline

Chr2:74366823

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1721848

rs_781268909

2 SubmittersRCV001882382 RCV005552484

NM_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

CA5298012

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

CA410037803

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

CA362453134

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

CA410036072

rs_1555836169

1 SubmittersRCV001958950

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

SNV
Germline

Chr2:74361513

Likely pathogenic

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

Criteria Provided
Single Submitter

CA1721339

rs_766653950

1 SubmittersRCV001973433

NM_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

CA375328607

rs_2131440608

1 SubmittersRCV002014627

NM_000454.5(SOD1):c.69G>C (p.Gln23His)

SNV
Germline

Chr21:31659838

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA410036102

rs_1424217272

3 SubmittersRCV002020327 RCV003408072 RCV004793695

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

SNV
Germline

Chr2:74362991

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1721471

rs_370727908

2 SubmittersRCV001928976 RCV002458819

NM_015046.7(SETX):c.7447G>A (p.Gly2483Arg)

SNV
Germline

Chr9:132264826

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5296384

rs_183776349

2 SubmittersRCV001977831 RCV005238130

NM_015046.7(SETX):c.2245G>A (p.Asp749Asn)

SNV
Germline

Chr9:132329353

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

CA200812985

rs_922821119

4 SubmittersRCV002009216 RCV002423244 RCV003482393 RCV003234159 RCV003234160

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

CA6668963

rs_758357594

1 SubmittersRCV002000195

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

SNV
Germline

Chr2:74371569

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1722369

rs_770153273

2 SubmittersRCV001988163 RCV002352696

NM_015046.7(SETX):c.6842+1G>T

SNV
Germline

Chr9:132278069

Likely pathogenic

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

Criteria Provided
Single Submitter

CA375330735

rs_1038776365

1 SubmittersRCV001983771

NM_004960.4(FUS):c.484A>C (p.Asn162His)

SNV
Germline

Chr16:31184357

Conflicting classifications of pathogenicity

Tremor, hereditary essential, 4
Amyotrophic lateral sclerosis type 6
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8023630

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

CA410036024

rs_121912453

1 SubmittersRCV001971733

NM_015046.7(SETX):c.4963T>C (p.Ser1655Pro)

SNV
Germline

Chr9:132326635

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5297102

rs_142509544

2 SubmittersRCV002035771 RCV004956123

NM_015046.7(SETX):c.5936G>A (p.Arg1979His)

SNV
Germline

Chr9:132296900

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5296874

rs_761031238

3 SubmittersRCV002004187 RCV002352738 RCV003234158 RCV003234157

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

Criteria Provided
Conflicting Classifications

CA5297510

rs_138287942

5 SubmittersRCV001870813 RCV003234125 RCV002282623 RCV002440950 RCV003234126

NM_015046.7(SETX):c.1086A>C (p.Glu362Asp)

SNV
Germline

Chr9:132331064

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

CA5297843

rs_768198537

3 SubmittersRCV001990970 RCV002425372 RCV003234149 RCV003234150

NM_021076.4(NEFH):c.1684C>G (p.Pro562Ala)

SNV
Germline

Chr22:29489324

Conflicting classifications of pathogenicity

Condition: not provided
Peripheral neuropathy
Amyotrophic lateral sclerosis type 1
Charcot-Marie-Tooth disease axonal type 2CC

Criteria Provided
Conflicting Classifications

CA10174261

rs_530872313

4 SubmittersRCV001911340 RCV002291508 RCV005397129

NM_005866.4(SIGMAR1):c.86G>A (p.Trp29Ter)

SNV
Germline

Chr9:34637612

Pathogenic

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

Criteria Provided
Single Submitter

CA373275611

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
SOD1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA410037827

rs_1424014997

4 SubmittersRCV001942245 RCV002473336 RCV004746543

NM_015046.7(SETX):c.3376T>G (p.Tyr1126Asp)

SNV
Germline

Chr9:132328222

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

CA200811367

rs_907569728

3 SubmittersRCV002043030 RCV002458989 RCV003234161 RCV003234162

NM_015046.7(SETX):c.3640A>G (p.Arg1214Gly)

SNV
Germline

Chr9:132327958

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5297360

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

CA347363286

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

CA200813206

rs_750530263

3 SubmittersRCV001883125 RCV002473312 RCV003234128 RCV003234129

NM_015046.7(SETX):c.5171G>A (p.Ser1724Asn)

SNV
Germline

Chr9:132326427

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

CA5297059

rs_770527045

3 SubmittersRCV001938770 RCV003434361 RCV004970562

NM_015046.7(SETX):c.3793A>G (p.Thr1265Ala)

SNV
Germline

Chr9:132327805

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA200807727

rs_956812554

2 SubmittersRCV001938713 RCV004656749

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

SNV
Germline

Chr2:74378206

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1722607

rs_756611519

2 SubmittersRCV001995802 RCV002295358

NM_015046.7(SETX):c.865G>A (p.Ala289Thr)

SNV
Germline

Chr9:132331422

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

CA5297904

rs_775579797

3 SubmittersRCV002033127 RCV004038766 RCV004733386

NM_021076.4(NEFH):c.1321G>A (p.Glu441Lys)

SNV
Germline

Chr22:29488961

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Amyotrophic lateral sclerosis
NEFH-related disorder

Criteria Provided
Conflicting Classifications

CA10174188

rs_145061116

4 SubmittersRCV001885731 RCV002386641 RCV003107875 RCV004749759

NM_013254.4(TBK1):c.1335G>A (p.Trp445Ter)

SNV
Germline

Chr12:64486012

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA385601359

rs_2136079548

2 SubmittersRCV001901321 RCV005370023

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

SNV
Germline

Chr2:74378104

Pathogenic

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

Criteria Provided
Single Submitter

CA347322341

rs_121909342

2 SubmittersRCV001972819 RCV003447327

NM_015046.7(SETX):c.7481A>G (p.Lys2494Arg)

SNV
Germline

Chr9:132264792

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5296380

rs_755711135

2 SubmittersRCV001871125 RCV003164238

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

SNV
Germline

Chr2:74369394

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1722132

rs_369086889

3 SubmittersRCV001952438 RCV004975915 RCV004746518

NM_003900.5(SQSTM1):c.1231G>A (p.Gly411Ser)

SNV
Germline

Chr5:179836501

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA3600867

rs_143511494

6 SubmittersRCV001972785 RCV003333197 RCV004734369 RCV003147715 RCV005370079 RCV004719211

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

CA5039526

rs_758169026

1 SubmittersRCV002018336

NM_015046.7(SETX):c.2267A>T (p.Glu756Val)

SNV
Germline

Chr9:132329331

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5297634

rs_202036078

2 SubmittersRCV002449490 RCV001904685

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

CA362443278

rs_2113485289

1 SubmittersRCV001908192

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

CA200806436

rs_567825753

2 SubmittersRCV001899854 RCV002334755

NM_000454.5(SOD1):c.43G>C (p.Val15Leu)

SNV
Germline

Chr21:31659812

Pathogenic/Likely pathogenic

Amyotrophic lateral sclerosis type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA410036007

rs_1568807400

3 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
not specified

Criteria Provided
Conflicting Classifications

CA5297882

rs_572884359

5 SubmittersRCV001883640 RCV002386648 RCV002464496 RCV004542153 RCV004770253

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

CA6668722

rs_748061846

2 SubmittersRCV001948003 RCV003992581

NM_015046.7(SETX):c.5302A>T (p.Asn1768Tyr)

SNV
Germline

Chr9:132311829

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5297020

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

CA385517124

rs_1555179091

2 SubmittersRCV001956486 RCV003334403

NM_001008212.2(OPTN):c.780-1G>C

SNV
Germline

Chr10:13122384

Likely pathogenic

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

Criteria Provided
Single Submitter

CA203266919

rs_759311192

1 SubmittersRCV002003787

NM_000454.5(SOD1):c.358G>C (p.Val120Leu)

SNV
Germline

Chr21:31668471

Pathogenic/Likely pathogenic

Amyotrophic lateral sclerosis type 1
SOD1-related disorder
See cases

Criteria Provided
Multiple Submitters
No Conflicts

CA410037621

rs_1457889952

4 SubmittersRCV001978284 RCV003408051 RCV002252747

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

SNV
Germline

Chr2:74374322

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA347370064

rs_1235693710

2 SubmittersRCV001895182 RCV002276921

NM_000454.5(SOD1):c.19T>A (p.Cys7Ser)

SNV
Germline

Chr21:31659788

Pathogenic

Amyotrophic lateral sclerosis type 1

Criteria Provided
Single Submitter

CA410035894

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

CA410035896

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

CA410036010

rs_1202989817

1 SubmittersRCV002016007

NM_005235.3(ERBB4):c.1972A>T (p.Ile658Phe)

SNV
Germline

Chr2:211630569

Conflicting classifications of pathogenicity

Condition: not provided
Amyotrophic lateral sclerosis type 19

Criteria Provided
Conflicting Classifications

CA2087892

rs_190654033

2 SubmittersRCV002209640 RCV005412369

NM_007126.5(VCP):c.2161-4A>G

SNV
Germline

Chr9:35057534

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

CA587568770

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

CA238264720

rs_376075252

2 SubmittersRCV002091831 RCV003224616

NM_015046.7(SETX):c.4916A>C (p.Gln1639Pro)

SNV
Germline

Chr9:132326682

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5297110

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

CA330041875

rs_201549050

4 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

CA6669278

rs_534404556

2 SubmittersRCV002153421

NM_003900.5(SQSTM1):c.674C>T (p.Ala225Val)

SNV
Germline

Chr5:179825146

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

CA3600612

rs_202235745

2 SubmittersRCV002083669 RCV005054402

NM_145868.2(ANXA11):c.905G>A (p.Arg302His)

SNV
Germline

Chr10:80164097

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5576030

rs_140133265

3 SubmittersRCV002152285 RCV003923688 RCV005361968

NM_015046.7(SETX):c.2688G>T (p.Leu896Phe)

SNV
Germline

Chr9:132328910

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5297552

rs_370551247

4 SubmittersRCV002146250 RCV002252771 RCV002454541 RCV004999667

NM_001008212.2(OPTN):c.780-2A>C

SNV
Germline

Chr10:13122383

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA5410754

rs_768117011

4 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

CA410037590

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

CA350323445

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

CA375321305

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

CA350323337

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

CA375345342

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

CA410037826

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

CA350323935

rs_2106023727

2 SubmittersRCV002259429 RCV003225989

NM_015046.7(SETX):c.5320C>T (p.Gln1774Ter)

SNV
Germline

Chr9:132311811

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA375320151

rs_1391764195

3 SubmittersRCV002260793 RCV003774803

NM_015046.7(SETX):c.546C>T (p.Asp182=)

SNV
Germline

Chr9:132336468

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA200823245

rs_199748733

2 SubmittersRCV002263521 RCV005213639

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

CA385606855

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

CA373272028

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

CA350329505

rs_2106102324

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

CA6668770

rs_200879808

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

CA410037261

rs_1568810275

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

CA404727578

rs_2513075471

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

CA9998986

rs_567511139

2 SubmittersRCV002293058 RCV003517366

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

CA5298043

rs_750537710

2 SubmittersRCV002323102 RCV003094510

NM_015046.7(SETX):c.4213C>T (p.Leu1405Phe)

SNV
Germline

Chr9:132327385

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5297246

rs_752141197

2 SubmittersRCV002327978 RCV005227607

NM_015046.7(SETX):c.3187A>G (p.Lys1063Glu)

SNV
Germline

Chr9:132328411

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5297453

rs_781393200

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
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5298145

rs_151040199

3 SubmittersRCV002333717 RCV003102579 RCV004779303

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
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5297462

rs_547184795

3 SubmittersRCV002320942 RCV003099247 RCV004809813

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

SNV
Germline

Chr2:74377681

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1722553

rs_146896442

2 SubmittersRCV002324945 RCV003099343

NM_015046.7(SETX):c.3281A>G (p.Gln1094Arg)

SNV
Germline

Chr9:132328317

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

CA5297441

rs_563421722

3 SubmittersRCV002445758 RCV003775577 RCV004534049

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

SNV
Germline

Chr2:74377472

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA50439611

rs_374167619

2 SubmittersRCV002339845 RCV003775676

NM_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

CA375323231

rs_1253978998

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

CA375322825

rs_1159002597

2 SubmittersRCV002342875 RCV003776005

NM_015046.7(SETX):c.4991C>T (p.Pro1664Leu)

SNV
Germline

Chr9:132326607

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5297095

rs_201128958

3 SubmittersRCV002342956 RCV004529133 RCV003776010

NM_015046.7(SETX):c.6926G>A (p.Arg2309Gln)

SNV
Germline

Chr9:132277069

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5296578

rs_775185796

2 SubmittersRCV002378117 RCV005215852

NM_015046.7(SETX):c.794A>G (p.Asp265Gly)

SNV
Germline

Chr9:132334652

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5297940

rs_527394446

2 SubmittersRCV002416855 RCV005227689

NM_004960.4(FUS):c.831C>T (p.Ser277=)

SNV
Germline

Chr16:31188356

Conflicting classifications of pathogenicity

Inborn genetic diseases
Tremor, hereditary essential, 4
Amyotrophic lateral sclerosis type 6

Criteria Provided
Conflicting Classifications

CA8023840

rs_138746304

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

CA5296316

rs_757554863

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
Condition: not provided

Criteria Provided
Conflicting Classifications

CA375321150

rs_1315385196

3 SubmittersRCV002416595 RCV003120965 RCV004999723

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

CA375325467

rs_1180510096

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
VAPB-related disorder

Criteria Provided
Conflicting Classifications

CA9924331

rs_149215094

3 SubmittersRCV002364823 RCV003098447 RCV004758229

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

CA5297747

rs_373616766

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
SETX-related disorder

Criteria Provided
Conflicting Classifications

CA200813819

rs_971534664

3 SubmittersRCV002403715 RCV003774444 RCV004733507

NM_015046.7(SETX):c.1919C>G (p.Ala640Gly)

SNV
Germline

Chr9:132329679

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA200813534

rs_998278975

5 SubmittersRCV002410649 RCV003138258 RCV004733508 RCV003774565

NM_004960.4(FUS):c.1453C>T (p.Arg485Trp)

SNV
Germline

Chr16:31191022

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8024064

rs_201772423

5 SubmittersRCV002394657 RCV003095186 RCV003971282 RCV004809835

NM_015046.7(SETX):c.1849G>A (p.Ala617Thr)

SNV
Germline

Chr9:132329749

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5297712

rs_192928196

2 SubmittersRCV002412980 RCV005215895

NM_015046.7(SETX):c.2380G>A (p.Val794Ile)

SNV
Germline

Chr9:132329218

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

CA5297610

rs_1554821436

3 SubmittersRCV002457896 RCV005058784 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

CA1721857

rs_772608973

2 SubmittersRCV002459546 RCV003775221

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

SNV
Germline

Chr2:74366464

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1721795

rs_201063854

2 SubmittersRCV002437243 RCV003102042

NM_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

CA5298099

rs_371166895

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

Criteria Provided
Multiple Submitters
No Conflicts

CA376028026

rs_1401721711

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

CA375346229

rs_2539140886

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

CA5296884

rs_749598296

2 SubmittersRCV002469835 RCV002569368

NM_025137.4(SPG11):c.6204A>G (p.Thr2068=)

SNV
Germline

Chr15:44573548

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA490329305

rs_2082470151

2 SubmittersRCV002471726 RCV005008596

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

CA385605778

rs_2539537276

1 SubmittersRCV002471876

NM_003900.5(SQSTM1):c.1207T>A (p.Ser403Thr)

SNV
Germline

Chr5:179836477

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3600860

rs_771657338

3 SubmittersRCV002474117 RCV004064255 RCV002571508

NM_015046.7(SETX):c.973A>G (p.Asn325Asp)

SNV
Germline

Chr9:132331314

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

CA5297885

rs_765421589

4 SubmittersRCV002474444 RCV002569401 RCV004656922 RCV004733510

NM_015046.7(SETX):c.2887C>T (p.His963Tyr)

SNV
Germline

Chr9:132328711

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5297521

rs_757405541

3 SubmittersRCV002474448 RCV002569402

NM_015046.7(SETX):c.1771A>G (p.Ile591Val)

SNV
Germline

Chr9:132329827

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5297722

rs_777443178

2 SubmittersRCV002474452 RCV002571527

NM_015046.7(SETX):c.5549-5G>A

SNV
Germline

Chr9:132298317

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA590769716

rs_1290116861

2 SubmittersRCV002474453 RCV002574698

NM_015046.7(SETX):c.7079A>G (p.Asp2360Gly)

SNV
Germline

Chr9:132275277

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

CA375329093

rs_1346929384

3 SubmittersRCV002474455 RCV003775541 RCV004965886

NM_015046.7(SETX):c.3607A>G (p.Arg1203Gly)

SNV
Germline

Chr9:132327991

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA200811039

rs_948232391

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

CA410037723

rs_1568811426

2 SubmittersRCV002475374 RCV002571542

NM_000454.5(SOD1):c.10A>G (p.Lys4Glu)

SNV
Germline

Chr21:31659779

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA410035877

rs_1568807297

3 SubmittersRCV004700918 RCV004747185 RCV003064620

NM_000454.5(SOD1):c.116T>A (p.Leu39Gln)

SNV
Germline

Chr21:31663833

Likely pathogenic

Amyotrophic lateral sclerosis type 1

Criteria Provided
Single Submitter

CA410036655

rs_1555836520

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

CA410037566

rs_1601158483

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

CA410037586

rs_1568810789

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

CA410037674

rs_121912454

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

CA410037724

rs_1568811426

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

CA410037805

rs_1568811515

1 SubmittersRCV003064626

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

CA385592734

rs_1555201919

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

CA385603171

rs_1280163869

1 SubmittersRCV003062524

NM_007126.5(VCP):c.466G>A (p.Gly156Ser)

SNV
Germline

Chr9:35065361

Pathogenic/Likely pathogenic

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

CA373289624

rs_1554668817

2 SubmittersRCV003037322 RCV005227805

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

CA375329036

rs_1554804809

1 SubmittersRCV003062238

NM_015046.7(SETX):c.7568C>T (p.Thr2523Ile)

SNV
Germline

Chr9:132264705

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5296369

rs_772179602

2 SubmittersRCV003482439 RCV003078977

NM_015046.7(SETX):c.4585G>A (p.Val1529Ile)

SNV
Germline

Chr9:132327013

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5297173

rs_755287426

2 SubmittersRCV003061655 RCV005483316

NM_015046.7(SETX):c.1948A>G (p.Met650Val)

SNV
Germline

Chr9:132329650

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5297690

rs_115701916

2 SubmittersRCV003404061 RCV003090688

NM_015046.7(SETX):c.4972G>A (p.Val1658Ile)

SNV
Germline

Chr9:132326626

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA375322872

rs_1382407439

2 SubmittersRCV003093700 RCV005266520

NM_003900.5(SQSTM1):c.901G>T (p.Glu301Ter)

SNV
Germline

Chr5:179833178

Pathogenic

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

Criteria Provided
Single Submitter

CA362451702

rs_1258386028

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

CA5296306

rs_539033545

2 SubmittersRCV003082971 RCV003312075

NM_003900.5(SQSTM1):c.451T>G (p.Cys151Gly)

SNV
Germline

Chr5:179824007

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

CA362443972

rs_1166729262

2 SubmittersRCV003090091 RCV003328713

NM_004960.4(FUS):c.587A>G (p.Asn196Ser)

SNV
Germline

Chr16:31185002

Conflicting classifications of pathogenicity

Inborn genetic diseases
Tremor, hereditary essential, 4
Amyotrophic lateral sclerosis type 6

Criteria Provided
Conflicting Classifications

CA8023715

rs_755591829

2 SubmittersRCV002637774 RCV002637773

NM_015046.7(SETX):c.5398G>A (p.Ala1800Thr)

SNV
Germline

Chr9:132300780

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5296981

rs_767990727

2 SubmittersRCV002654839 RCV005273600

NM_007375.4(TARDBP):c.1123A>G (p.Ser375Gly)

SNV
Germline

Chr1:11022532

Pathogenic

FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
Amyotrophic lateral sclerosis type 10

Criteria Provided
Single Submitter

CA586491

rs_766196255

1 SubmittersRCV002664150

NM_000454.5(SOD1):c.286G>A (p.Ala96Thr)

SNV
Germline

Chr21:31667304

Likely pathogenic

Amyotrophic lateral sclerosis type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA410037465

rs_1568810686

2 SubmittersRCV002624691 RCV004818241

NM_001008212.2(OPTN):c.1552C>T (p.Gln518Ter)

SNV
Germline

Chr10:13133521

Pathogenic

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

Criteria Provided
Single Submitter

CA5411013

rs_780777015

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

CA5297312

rs_777857355

2 SubmittersRCV003118242 RCV003140245

NM_003900.5(SQSTM1):c.1166-2A>G

SNV
Germline

Chr5:179836434

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

CA362453565

rs_2480264648

2 SubmittersRCV002587274 RCV004725314

NM_001008212.2(OPTN):c.1195G>T (p.Glu399Ter)

SNV
Germline

Chr10:13125992

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA376029657

rs_1657737496

3 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

CA5297345

rs_761851331

4 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

CA395666685

rs_2544251972

1 SubmittersRCV002617179

NM_000454.5(SOD1):c.16G>A (p.Val6Met)

SNV
Germline

Chr21:31659785

Likely pathogenic

Amyotrophic lateral sclerosis type 1

Criteria Provided
Single Submitter

CA410035888

rs_1568807314

1 SubmittersRCV002605188

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

CA5297565

rs_139427451

2 SubmittersRCV002632119 RCV003156390

NM_013444.4(UBQLN2):c.359G>C (p.Gly120Ala)

SNV
Germline

ChrX:56564232

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 15
not specified

Criteria Provided
Conflicting Classifications

CA10430061

rs_143736302

2 SubmittersRCV002639584 RCV004681521

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

CA362442577

rs_1757759029

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

CA410037777

rs_1568811489

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

CA385602681

rs_2539525878

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

CA9998956

rs_750335577

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

CA385601638

rs_1461457058

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

CA385599400

rs_369620088

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

CA385604526

rs_2539534855

1 SubmittersRCV002847242

NM_007126.5(VCP):c.382G>A (p.Gly128Ser)

SNV
Germline

Chr9:35066738

Likely pathogenic

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

Criteria Provided
Single Submitter

CA373291998

rs_2490370338

1 SubmittersRCV002876342

NM_001008212.2(OPTN):c.703C>T (p.Gln235Ter)

SNV
Germline

Chr10:13118964

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA376028502

rs_1371904281

4 SubmittersRCV002871820 RCV002898610 RCV004736215 RCV004719275

NM_004960.4(FUS):c.1573C>A (p.Pro525Thr)

SNV
Germline

Chr16:31191430

Pathogenic

Tremor, hereditary essential, 4
Amyotrophic lateral sclerosis type 6

Criteria Provided
Single Submitter

CA395677540

rs_1555509699

1 SubmittersRCV002913845

NM_015046.7(SETX):c.3026C>T (p.Ser1009Phe)

SNV
Germline

Chr9:132328572

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5297496

rs_754285464

2 SubmittersRCV002885491 RCV004790264

NM_015046.7(SETX):c.5443C>G (p.Pro1815Ala)

SNV
Germline

Chr9:132300735

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5296977

rs_371614085

2 SubmittersRCV002917557 RCV003167901

NM_007126.5(VCP):c.266G>A (p.Arg89Gln)

SNV
Germline

Chr9:35067927

Pathogenic

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

Criteria Provided
Single Submitter

CA192683160

rs_900105227

1 SubmittersRCV002927327

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

CA385597878

rs_2539503647

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

CA410037374

rs_2516660280

1 SubmittersRCV002933812

NM_001008212.2(OPTN):c.235C>T (p.Gln79Ter)

SNV
Germline

Chr10:13110342

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA376027452

rs_1358641287

2 SubmittersRCV002942888 RCV005255729

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

CA5297595

rs_778406422

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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5297199

rs_149362508

3 SubmittersRCV002948366 RCV004545446 RCV004966208

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
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2

Criteria Provided
Multiple Submitters
No Conflicts

CA375351227

rs_1451908310

2 SubmittersRCV002949307 RCV005254650

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

SNV
Germline

Chr2:74361642

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1721372

rs_371163273

2 SubmittersRCV003002240 RCV004999847

NM_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

CA5298136

rs_374733340

3 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

CA362451178

rs_2480244231

1 SubmittersRCV003002562

NM_001008212.2(OPTN):c.369+2T>C

SNV
Germline

Chr10:13110478

Likely pathogenic

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

Criteria Provided
Single Submitter

CA5410571

rs_113349726

1 SubmittersRCV003015421

NM_025137.4(SPG11):c.4339C>T (p.Gln1447Ter)

SNV
Germline

Chr15:44596178

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA392227662

rs_2505369754

2 SubmittersRCV005010870 RCV003025690

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

CA385601292

rs_2539520026

1 SubmittersRCV003019974

NM_001008212.2(OPTN):c.649A>T (p.Arg217Ter)

SNV
Germline

Chr10:13118910

Pathogenic

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

Criteria Provided
Single Submitter

CA376028381

rs_1328890259

1 SubmittersRCV003047470

NM_015046.7(SETX):c.4931T>C (p.Ile1644Thr)

SNV
Germline

Chr9:132326667

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5297105

rs_375429939

2 SubmittersRCV002758219 RCV005227833

NM_015046.7(SETX):c.5059C>G (p.Pro1687Ala)

SNV
Germline

Chr9:132326539

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5297077

rs_146128231

2 SubmittersRCV002827479 RCV003777809

NM_015046.7(SETX):c.3181C>G (p.Pro1061Ala)

SNV
Germline

Chr9:132328417

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5297455

rs_111537259

2 SubmittersRCV002955067 RCV003777990

NM_015046.7(SETX):c.5933A>G (p.Tyr1978Cys)

SNV
Germline

Chr9:132296903

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5296876

rs_752500112

2 SubmittersRCV002990693 RCV005215959

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

CA410037778

rs_1568811489

3 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

CA375325844

rs_1456924846

2 SubmittersRCV003136630 RCV003778788

NM_006000.3(TUBA4A):c.1243G>A (p.Glu415Lys)

SNV
Germline

Chr2:219250456

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 22
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA350721792

rs_2544993085

3 SubmittersRCV003148361 RCV003317661 RCV005623517

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
Condition: not provided

Criteria Provided
Conflicting Classifications

CA410037591

rs_1240334553

3 SubmittersRCV003148428 RCV003517461 RCV004725662

NM_006415.4(SPTLC1):c.113T>G (p.Leu38Arg)

SNV
Germline

Chr9:92112507

Pathogenic

Amyotrophic lateral sclerosis 27, juvenile

No Assertion Criteria Provided

CA373795568

rs_1478177125

1 SubmittersRCV003152660

NM_004960.4(FUS):c.1396G>A (p.Gly466Ser)

SNV
Germline

Chr16:31190965

Conflicting classifications of pathogenicity

Inborn genetic diseases
Amyotrophic lateral sclerosis type 6
Tremor, hereditary essential, 4

Criteria Provided
Conflicting Classifications

CA8024054

rs_747547178

2 SubmittersRCV003188395 RCV005216012

NM_015046.7(SETX):c.3064G>A (p.Asp1022Asn)

SNV
Germline

Chr9:132328534

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5297483

rs_745655037

2 SubmittersRCV003200237 RCV003779706

NM_015046.7(SETX):c.1419A>T (p.Lys473Asn)

SNV
Germline

Chr9:132330179

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA200814305

rs_201792518

2 SubmittersRCV003213156 RCV003779741

NM_018834.6(MATR3):c.189A>G (p.Ser63=)

SNV
Germline

Chr5:139307604

Conflicting classifications of pathogenicity

Condition: not provided
Amyotrophic lateral sclerosis type 21

Criteria Provided
Conflicting Classifications

CA446829475

rs_2546755417

2 SubmittersRCV003223191 RCV005101410

NM_007375.4(TARDBP):c.1133A>G (p.Asn378Ser)

SNV
Germline

Chr1:11022542

Likely pathogenic

Amyotrophic lateral sclerosis type 10

Criteria Provided
Single Submitter

CA338368267

rs_1553159739

1 SubmittersRCV003226896

NM_025137.4(SPG11):c.4162-10T>G

SNV
Germline

Chr15:44596365

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA7534739

rs_765557765

3 SubmittersRCV003230195 RCV005012821

NM_015046.7(SETX):c.1667A>G (p.Lys556Arg)

SNV
Germline

Chr9:132329931

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5297735

rs_754890755

4 SubmittersRCV003275620 RCV003779928 RCV003994536 RCV004786911

NM_015046.7(SETX):c.6205A>G (p.Met2069Val)

SNV
Germline

Chr9:132288553

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5296810

rs_754316545

2 SubmittersRCV003315185 RCV005227984

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

SNV
Germline

Chr2:74378000

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA347321496

rs_1675325580

2 SubmittersRCV003321436 RCV003777323

NM_006000.3(TUBA4A):c.313C>T (p.Arg105Cys)

SNV
Germline

Chr2:219251627

Likely pathogenic

Condition: not provided
Amyotrophic lateral sclerosis type 22

Criteria Provided
Single Submitter

CA350729878

rs_2544995427

2 SubmittersRCV003325799 RCV005416225

NM_007126.5(VCP):c.766C>G (p.Arg256Gly)

SNV
Germline

Chr9:35063023

Likely pathogenic

Childhood Onset VCP-related Neurodevelopmental Disorder
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
Charcot-Marie-Tooth disease type 2Y

Criteria Provided
Multiple Submitters
No Conflicts

CA373286437

rs_2490360233

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

CA358734082

rs_2546764617

1 SubmittersRCV003334442

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

CA5297108

rs_776922262

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
Single Submitter

CA410037457

rs_121912437

2 SubmittersRCV003408685 RCV003517499

NM_015046.7(SETX):c.3491G>A (p.Arg1164Gln)

SNV
Germline

Chr9:132328107

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5297393

rs_369264209

3 SubmittersRCV004534197 RCV004765833 RCV003778300

NM_004960.4(FUS):c.1573C>T (p.Pro525Ser)

SNV
Unknown

Chr16:31191430

Likely pathogenic

Amyotrophic lateral sclerosis type 6

Criteria Provided
Single Submitter

CA395677544

rs_1555509699

1 SubmittersRCV003455847

NM_015046.7(SETX):c.7200-3T>C

SNV
Germline

Chr9:132269705

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5296461

rs_750883399

3 SubmittersRCV003482869 RCV003779233

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

CA2088369

rs_552079714

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

CA9998857

rs_762628133

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

CA410037501

rs_1568810715

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

CA385598395

rs_2539511036

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

CA385605880

rs_2539537429

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

CA385606810

rs_1565824978

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

CA410036097

rs_1169198442

1 SubmittersRCV003628666

NM_025137.4(SPG11):c.1602+1G>A

SNV
Germline

Chr15:44648865

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA392235461

rs_2505710044

2 SubmittersRCV003600337 RCV005013125

NM_013444.4(UBQLN2):c.1318C>T (p.Pro440Ser)

SNV
Germline

ChrX:56565191

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 15
not specified

Criteria Provided
Conflicting Classifications

CA10430149

rs_763761196

2 SubmittersRCV003642273 RCV004877827

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

CA385594279

rs_2539482429

1 SubmittersRCV003753864

NM_015046.7(SETX):c.4412C>T (p.Thr1471Ile)

SNV
Germline

Chr9:132327186

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA375326323

rs_533403902

3 SubmittersRCV003782137 RCV004775493

NM_004960.4(FUS):c.1528A>G (p.Lys510Glu)

SNV
Germline

Chr16:31191097

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA395676061

rs_1555509605

2 SubmittersRCV003783685 RCV004790605

NM_004960.4(FUS):c.1540A>G (p.Arg514Gly)

SNV
Germline

Chr16:31191109

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA395676122

rs_1555509609

2 SubmittersRCV003783686 RCV005410966

NM_001008212.2(OPTN):c.1670A>C (p.Lys557Thr)

SNV
Germline

Chr10:13136802

Likely pathogenic

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

Criteria Provided
Single Submitter

CA376030760

rs_1357375850

1 SubmittersRCV003788520

NM_015046.7(SETX):c.2096A>G (p.Glu699Gly)

SNV
Germline

Chr9:132329502

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA375336981

rs_1330919125

2 SubmittersRCV003788610 RCV005485525

NM_015046.7(SETX):c.3589G>T (p.Asp1197Tyr)

SNV
Germline

Chr9:132328009

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5297366

rs_149558692

3 SubmittersRCV003781123 RCV004733637 RCV005485528

NM_001008212.2(OPTN):c.241G>T (p.Glu81Ter)

SNV
Germline

Chr10:13110348

Pathogenic

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

Criteria Provided
Single Submitter

CA376027467

rs_1359892832

1 SubmittersRCV003787346

NM_015046.7(SETX):c.3098T>C (p.Leu1033Pro)

SNV
Germline

Chr9:132328500

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA375332378

rs_1423493534

2 SubmittersRCV003787904 RCV005485518

NM_015046.7(SETX):c.5427T>G (p.Asp1809Glu)

SNV
Germline

Chr9:132300751

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA200821960

rs_978380834

2 SubmittersRCV003787991 RCV005000023

NM_015046.7(SETX):c.4481A>G (p.Asp1494Gly)

SNV
Germline

Chr9:132327117

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5297193

rs_768289137

2 SubmittersRCV003786114 RCV005485523

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

CA3600414

rs_373306317

1 SubmittersRCV003792197

NM_001008212.2(OPTN):c.589C>A (p.His197Asn)

SNV
Germline

Chr10:13116303

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5410679

rs_759378585

2 SubmittersRCV003803437 RCV004366637

NM_005866.4(SIGMAR1):c.374C>A (p.Ser125Ter)

SNV
Germline

Chr9:34637068

Pathogenic

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

Criteria Provided
Single Submitter

CA373274242

rs_755994483

1 SubmittersRCV003800917

NM_015046.7(SETX):c.7074T>G (p.Asp2358Glu)

SNV
Germline

Chr9:132275282

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA200798220

rs_138508512

2 SubmittersRCV003796915 RCV005000035

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

CA362452937

rs_1261101487

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

CA362452318

rs_1758351897

1 SubmittersRCV003804675

NM_015046.7(SETX):c.1034A>T (p.Tyr345Phe)

SNV
Germline

Chr9:132331116

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5297851

rs_367824771

2 SubmittersRCV003817745 RCV005273927

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

CA373293362

rs_121909332

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

CA358731695

rs_2546553407

1 SubmittersRCV003885442

NM_013437.5(LRP12):c.2384T>C (p.Leu795Pro)

SNV
Germline

Chr8:104490869

Conflicting classifications of pathogenicity

Condition: not provided
Oculopharyngodistal myopathy 1
Amyotrophic lateral sclerosis 28

Criteria Provided
Conflicting Classifications

CA4838733

rs_142053596

2 SubmittersRCV003992939 RCV005392762

NM_000454.5(SOD1):c.449T>G (p.Ile150Ser)

SNV
Germline

Chr21:31668562

Likely pathogenic

Amyotrophic lateral sclerosis type 1

Criteria Provided
Single Submitter

CA410037828

rs_1424014997

1 SubmittersRCV003994640

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

SNV
Germline

Chr2:74363120

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1721492

rs_763226083

3 SubmittersRCV004375449 RCV004790656 RCV005209664

NM_015046.7(SETX):c.1937C>T (p.Ser646Phe)

SNV
Germline

Chr9:132329661

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5297692

rs_754348681

2 SubmittersRCV004455596 RCV005220896

NM_006262.4(PRPH):c.919C>T (p.Gln307Ter)

SNV
Germline

Chr12:49297196

Likely pathogenic

Amyotrophic lateral sclerosis type 1

Criteria Provided
Single Submitter

CA384694212

rs_2498984328

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

rs_969452649

1 SubmittersRCV004577991

NM_013254.4(TBK1):c.608A>G (p.Asp203Gly)

SNV
Germline

Chr12:64474297

Likely pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 4

No Assertion Criteria Provided

1 SubmittersRCV004767607

NM_015046.7(SETX):c.7112T>C (p.Val2371Ala)

SNV
Germline

Chr9:132271797

Likely pathogenic

Amyotrophic lateral sclerosis type 4

No Assertion Criteria Provided

1 SubmittersRCV004767615

NM_013254.4(TBK1):c.1760+1G>A

SNV
Germline

Chr12:64496407

Likely pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 4

Criteria Provided
Single Submitter

1 SubmittersRCV005055407

NM_013444.4(UBQLN2):c.1663C>T (p.Pro555Ser)

SNV
Germline

ChrX:56565536

Likely pathogenic

Amyotrophic lateral sclerosis type 15

Criteria Provided
Single Submitter

1 SubmittersRCV004696621

NM_020919.4(ALS2):c.1250C>G (p.Ser417Ter)

SNV
Germline

Chr2:201757623

Pathogenic

Amyotrophic lateral sclerosis type 2, juvenile

Criteria Provided
Single Submitter

1 SubmittersRCV004759592

NM_013254.4(TBK1):c.1693C>T (p.Gln565Ter)

SNV
Germline

Chr12:64495748

Pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 4

Criteria Provided
Single Submitter

1 SubmittersRCV004765475

NM_001008212.2(OPTN):c.12A>G (p.Gln4=)

SNV
Germline

Chr10:13109134

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005218330 RCV004793246

NM_014845.6(FIG4):c.1389-2A>G

SNV
Germline

Chr6:109763935

Likely pathogenic

Bilateral parasagittal parieto-occipital polymicrogyria
Amyotrophic lateral sclerosis type 11
Charcot-Marie-Tooth disease type 4J
Yunis-Varon syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004797323

NM_145868.2(ANXA11):c.744+1G>A

SNV
Germline

Chr10:80166889

Pathogenic

Amyotrophic lateral sclerosis type 23

Criteria Provided
Single Submitter

1 SubmittersRCV004821138

NM_025137.4(SPG11):c.7159C>T (p.Gln2387Ter)

SNV
Germline

Chr15:44563294

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005009596

NM_025137.4(SPG11):c.7096G>T (p.Glu2366Ter)

SNV
Germline

Chr15:44564602

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005009597

NM_025137.4(SPG11):c.6859C>T (p.Gln2287Ter)

SNV
Germline

Chr15:44565994

Pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005009599

NM_025137.4(SPG11):c.6477+1G>C

SNV
Germline

Chr15:44570524

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005009603

NM_025137.4(SPG11):c.6343+2T>C

SNV
Germline

Chr15:44572681

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005009604

NM_025137.4(SPG11):c.6271C>T (p.Gln2091Ter)

SNV
Germline

Chr15:44572755

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005009605 RCV005112587

NM_025137.4(SPG11):c.6253C>T (p.Gln2085Ter)

SNV
Germline

Chr15:44572773

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005009607

NM_025137.4(SPG11):c.6206-2A>G

SNV
Germline

Chr15:44572822

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005009608

NM_025137.4(SPG11):c.6194C>A (p.Ser2065Ter)

SNV
Germline

Chr15:44573558

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005009609

NM_025137.4(SPG11):c.5677G>T (p.Glu1893Ter)

SNV
Germline

Chr15:44584003

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005009612

NM_025137.4(SPG11):c.4002-2A>C

SNV
Germline

Chr15:44596945

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005009621

NM_025137.4(SPG11):c.3146-1G>C

SNV
Germline

Chr15:44610986

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005009625

NM_025137.4(SPG11):c.3039-1G>A

SNV
Germline

Chr15:44613537

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005009626

NM_025137.4(SPG11):c.2863G>T (p.Glu955Ter)

SNV
Germline

Chr15:44615538

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005009629

NM_025137.4(SPG11):c.1820C>G (p.Ser607Ter)

SNV
Germline

Chr15:44629304

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005009632

NM_013254.4(TBK1):c.1341-1G>A

SNV
Germline

Chr12:64488486

Likely pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 4

Criteria Provided
Single Submitter

1 SubmittersRCV005071141

NM_000454.5(SOD1):c.364G>A (p.Glu122Lys)

SNV
Germline

Chr21:31668477

Likely pathogenic

Amyotrophic lateral sclerosis type 1

Criteria Provided
Single Submitter

1 SubmittersRCV005107247

NM_013254.4(TBK1):c.281T>C (p.Leu94Ser)

SNV
Germline

Chr12:64464386

Likely pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 4

Criteria Provided
Single Submitter

1 SubmittersRCV005203018

NM_013254.4(TBK1):c.889C>T (p.Gln297Ter)

SNV
Germline

Chr12:64481918

Pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 4

Criteria Provided
Single Submitter

1 SubmittersRCV005198641

NM_005866.4(SIGMAR1):c.403C>T (p.Gln135Ter)

SNV
Germline

Chr9:34637039

Pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005210028

NM_001008212.2(OPTN):c.157C>T (p.Gln53Ter)

SNV
Germline

Chr10:13109279

Pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005211022

NM_005866.4(SIGMAR1):c.445+1G>A

SNV
Germline

Chr9:34636996

Pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005215233

NM_003900.5(SQSTM1):c.686C>A (p.Ser229Ter)

SNV
Germline

Chr5:179825158

Pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005213095

NM_004960.4(FUS):c.1542G>T (p.Arg514Ser)

SNV
Germline

Chr16:31191399

Pathogenic

Amyotrophic lateral sclerosis type 6
Tremor, hereditary essential, 4

Criteria Provided
Single Submitter

1 SubmittersRCV005221439

NM_015046.7(SETX):c.5942T>G (p.Leu1981Arg)

SNV
Germline

Chr9:132296894

Pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005212031

NM_003900.5(SQSTM1):c.206-1G>C

SNV
Germline

Chr5:179822957

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005212578

NM_015046.7(SETX):c.3295G>A (p.Asp1099Asn)

SNV
Germline

Chr9:132328303

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

2 SubmittersRCV005228622 RCV005412740

NM_003900.5(SQSTM1):c.571G>T (p.Gly191Ter)

SNV
Germline

Chr5:179824221

Pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005216396

NM_015046.7(SETX):c.4066C>T (p.Pro1356Ser)

SNV
Germline

Chr9:132327532

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005216527 RCV005485771

NM_001008212.2(OPTN):c.1240G>T (p.Glu414Ter)

SNV
Germline

Chr10:13126037

Pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005214258

NM_025137.4(SPG11):c.4831C>T (p.Gln1611Ter)

SNV
Germline

Chr15:44589327

Likely pathogenic

Amyotrophic lateral sclerosis type 5

Criteria Provided
Single Submitter

1 SubmittersRCV005252219

NM_000454.5(SOD1):c.455T>A (p.Ile152Asn)

SNV
Germline

Chr21:31668568

Likely pathogenic

Amyotrophic lateral sclerosis type 1

Criteria Provided
Single Submitter

1 SubmittersRCV005358346

NM_000454.5(SOD1):c.194T>G (p.Phe65Cys)

SNV
Germline

Chr21:31666473

Likely pathogenic

Amyotrophic lateral sclerosis type 1

Criteria Provided
Single Submitter

1 SubmittersRCV005358348

NM_000454.5(SOD1):c.68A>G (p.Gln23Arg)

SNV
Germline

Chr21:31659837

Likely pathogenic

Amyotrophic lateral sclerosis type 1

Criteria Provided
Single Submitter

1 SubmittersRCV005358349

NM_025137.4(SPG11):c.751C>T (p.Gln251Ter)

SNV
Germline

Chr15:44657213

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005356832

NM_000454.5(SOD1):c.203T>C (p.Leu68Pro)

SNV
Germline

Chr21:31666482

Likely pathogenic

Amyotrophic lateral sclerosis type 1

Criteria Provided
Single Submitter

1 SubmittersRCV005368262

NM_000454.5(SOD1):c.358G>T (p.Val120Phe)

SNV
Germline

Chr21:31668471

Likely pathogenic

Amyotrophic lateral sclerosis type 1

Criteria Provided
Single Submitter

1 SubmittersRCV005368263

NM_014845.6(FIG4):c.1150A>T (p.Arg384Ter)

SNV
Germline

Chr6:109760262

Likely pathogenic

Yunis-Varon syndrome
Bilateral parasagittal parieto-occipital polymicrogyria
Amyotrophic lateral sclerosis type 11
Charcot-Marie-Tooth disease type 4J

Criteria Provided
Single Submitter

1 SubmittersRCV005400350

NM_014043.4(CHMP2B):c.617A>C (p.Gln206Pro)

SNV
Germline

Chr3:87253797

Likely pathogenic

Frontotemporal dementia and/or amyotrophic lateral sclerosis 7

Criteria Provided
Single Submitter

1 SubmittersRCV005410120

NM_005235.3(ERBB4):c.3183+2T>C

SNV
Germline

Chr2:211387943