Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000404.4(GLB1):c.1051C>T (p.Arg351Ter)	SNV Germline	Chr3:33046137	Pathogenic	GM1-gangliosidosis, type I, with cardiac involvement Infantile GM1 gangliosidosis GM1 gangliosidosis type 2 Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis type 3 Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B Infantile GM1 gangliosidosis Condition: not provided Spastic ataxia	Criteria Provided Multiple Submitters No Conflicts	CA114658	rs_72555372	8 SubmittersRCV000000990 RCV000665526 RCV001223149 RCV000780302 RCV001331201 RCV002225254 RCV001642195
NM_000487.6(ARSA):c.868C>T (p.Arg290Cys)	SNV Germline	Chr22:50626265	Pathogenic/Likely pathogenic	Metachromatic leukodystrophy Spastic ataxia	Criteria Provided Multiple Submitters No Conflicts	CA278036	rs_74315473	6 SubmittersRCV000003223 RCV001642197
NM_014363.6(SACS):c.7504C>T (p.Arg2502Ter)	SNV Germline	Chr13:23336372	Pathogenic	Charlevoix-Saguenay spastic ataxia Condition: not provided Spastic paraplegia Hereditary spastic paraplegia	Criteria Provided Multiple Submitters No Conflicts	CA340433	rs_281865118	11 SubmittersRCV000005848 RCV001268308 RCV001851681 RCV001847584
NM_014363.6(SACS):c.12220G>C (p.Ala4074Pro)	SNV Germline	Chr13:23331656	Pathogenic	Charlevoix-Saguenay spastic ataxia	No Assertion Criteria Provided	CA253511	rs_137853016	1 SubmittersRCV000005849
NM_014363.6(SACS):c.5836T>C (p.Trp1946Arg)	SNV Germline	Chr13:23338040	Pathogenic/Likely pathogenic	Charlevoix-Saguenay spastic ataxia Spastic paraplegia SACS-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA253513	rs_137853017	4 SubmittersRCV000005852 RCV001851682 RCV003415662
NM_014363.6(SACS):c.9742T>C (p.Trp3248Arg)	SNV Germline	Chr13:23334134	Pathogenic	Charlevoix-Saguenay spastic ataxia	No Assertion Criteria Provided	CA253516	rs_137853018	1 SubmittersRCV000005854
NM_014363.6(SACS):c.3161T>C (p.Phe1054Ser)	SNV Germline	Chr13:23340715	Pathogenic	Charlevoix-Saguenay spastic ataxia	No Assertion Criteria Provided	CA253518	rs_137853019	1 SubmittersRCV000005855
NM_018109.4(MTPAP):c.1432A>G (p.Asn478Asp)	SNV Germline	Chr10:30313926	Pathogenic	Spastic ataxia 4 Condition: not provided	Criteria Provided Single Submitter	CA113782	rs_267606900	2 SubmittersRCV000000002 RCV002513130
NM_006796.3(AFG3L2):c.1996A>G (p.Met666Val)	SNV Germline	Chr18:12337520	Pathogenic/Likely pathogenic	Spinocerebellar ataxia type 28 Condition: not provided Optic atrophy 12 Spinocerebellar ataxia type 28 Spastic ataxia 5	Criteria Provided Multiple Submitters No Conflicts	CA342731	rs_151344514	5 SubmittersRCV000023376 RCV000992830 RCV002490407
NM_006796.3(AFG3L2):c.1847A>G (p.Tyr616Cys)	SNV Germline	Chr18:12340334	Pathogenic	Spastic ataxia 5 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA129200	rs_387906889	4 SubmittersRCV000023380 RCV000414375
NM_014363.6(SACS):c.12160C>T (p.Gln4054Ter)	SNV Germline	Chr13:23331716	Pathogenic/Likely pathogenic	Charlevoix-Saguenay spastic ataxia Condition: not provided Spastic paraplegia	Criteria Provided Multiple Submitters No Conflicts	CA343113	rs_281865120	12 SubmittersRCV000032008 RCV000487627 RCV001044731
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val)	SNV Germline	Chr16:89546737	Pathogenic/Likely pathogenic	Hereditary spastic paraplegia 7 Condition: not provided Spastic Paraplegia, Recessive Hereditary spastic paraplegia Inborn genetic diseases Dysarthria Spastic paraparesis Gait ataxia Cerebral cortical atrophy Optic nerve hypoplasia Intellectual disability Spastic ataxia Sensorimotor neuropathy SPG7-related disorder Frontotemporal dementia and/or amyotrophic lateral sclerosis 2	Criteria Provided Multiple Submitters No Conflicts	CA090884	rs_61755320	55 SubmittersRCV000034858 RCV000195683 RCV000270813 RCV000515835 RCV000623796 RCV000626837 RCV000677252 RCV000850200 RCV001003619 RCV003421943 RCV002463623
NM_000310.4(PPT1):c.665T>C (p.Leu222Pro)	SNV Germline	Chr1:40078621	Pathogenic/Likely pathogenic	Neuronal ceroid lipofuscinosis 1 Neuronal ceroid lipofuscinosis Spastic ataxia	Criteria Provided Multiple Submitters No Conflicts	CA263538	rs_386833661	5 SubmittersRCV000049621 RCV001192781 RCV001646987
NM_006612.6(KIF1C):c.2191C>T (p.Arg731Ter)	SNV Germline	Chr17:5022272	Pathogenic	Spastic ataxia 2	Criteria Provided Single Submitter	CA150723	rs_587777197	2 SubmittersRCV000087323
NM_006612.6(KIF1C):c.505C>T (p.Arg169Trp)	SNV Germline	Chr17:5002539	Likely pathogenic	Spastic ataxia 2 Condition: not provided	Criteria Provided Single Submitter	CA150725	rs_587777198	2 SubmittersRCV000087324 RCV003421989
NM_006612.6(KIF1C):c.183G>A (p.Ser61=)	SNV Germline	Chr17:5000848	Likely pathogenic	Spastic ataxia 2 Hereditary spastic paraplegia	Criteria Provided Single Submitter	CA10602383	rs_886041035	2 SubmittersRCV000087325 RCV001847658
NM_014363.6(SACS):c.414C>G (p.Tyr138Ter)	SNV Germline	Chr13:23365209	Pathogenic	Condition: not provided Charlevoix-Saguenay spastic ataxia	Criteria Provided Single Submitter	CA233202	rs_199474695	2 SubmittersRCV000144427 RCV003467200
NM_006796.3(AFG3L2):c.1875G>A (p.Met625Ile)	SNV Germline	Chr18:12340306	Likely pathogenic	Spastic ataxia 5 Spinocerebellar ataxia type 28 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA175106	rs_727502823	4 SubmittersRCV000149914 RCV002265626 RCV003144139
NM_014363.6(SACS):c.3589T>C (p.Ser1197Pro)	SNV Germline	Chr13:23340287	Likely pathogenic	Charlevoix-Saguenay spastic ataxia	No Assertion Criteria Provided	CA273726	rs_727503785	1 SubmittersRCV000157061
NM_014363.6(SACS):c.12973C>T (p.Arg4325Ter)	SNV Germline	Chr13:23330903	Pathogenic/Likely pathogenic	Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Multiple Submitters No Conflicts	CA274116	rs_762947018	7 SubmittersRCV000169272 RCV001850396
NM_014363.6(SACS):c.12232C>T (p.Arg4078Ter)	SNV Germline	Chr13:23331644	Pathogenic/Likely pathogenic	Charlevoix-Saguenay spastic ataxia Spastic paraplegia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA274060	rs_141315518	4 SubmittersRCV000169220 RCV001850393 RCV002509271
NM_014363.6(SACS):c.7276C>T (p.Arg2426Ter)	SNV Germline	Chr13:23336600	Pathogenic/Likely pathogenic	Charlevoix-Saguenay spastic ataxia Condition: not provided Spastic paraplegia	Criteria Provided Multiple Submitters No Conflicts	CA274458	rs_786204750	7 SubmittersRCV000169603 RCV000734960 RCV001850407
NM_016035.5(COQ4):c.718C>T (p.Arg240Cys)	SNV Germline	Chr9:128333565	Pathogenic/Likely pathogenic	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome Condition: not provided Spastic ataxia Inborn genetic diseases COQ4-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA199144	rs_143441644	12 SubmittersRCV000169636 RCV000256139 RCV001640262 RCV002515203 RCV003390884
NM_001032221.6(STXBP1):c.874C>T (p.Arg292Cys)	SNV Germline/somatic	Chr9:127668159	Pathogenic/Likely pathogenic	Condition: not provided Early onset epileptic encephalopathy not specified Developmental and epileptic encephalopathy, 4 Early infantile epileptic encephalopathy with suppression bursts Infantile epilepsy syndrome Inborn genetic diseases Spastic ataxia West syndrome	Criteria Provided Multiple Submitters No Conflicts	CA302345	rs_786205598	14 SubmittersRCV000171427 RCV000509312 RCV000502114 RCV000515202 RCV000700520 RCV001265420 RCV001266353 RCV001640264 RCV003488419
NM_014363.6(SACS):c.4076T>C (p.Met1359Thr)	SNV Germline	Chr13:23339800	Conflicting classifications of pathogenicity	not specified Charlevoix-Saguenay spastic ataxia Condition: not provided Spastic paraplegia Hereditary spastic paraplegia SACS-related disorder	Criteria Provided Conflicting Classifications	CA208864	rs_146451611	16 SubmittersRCV000194599 RCV000515329 RCV000710206 RCV001082339 RCV001847803 RCV003937553
NM_014363.6(SACS):c.13717A>C (p.Asn4573His)	SNV Germline	Chr13:23330159	Conflicting classifications of pathogenicity	not specified Condition: not provided Hereditary spastic paraplegia Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Conflicting Classifications	CA239310	rs_34382952	16 SubmittersRCV000254363 RCV000488235 RCV000515968 RCV000674768 RCV001082378
NM_014363.6(SACS):c.8133G>A (p.Ser2711=)	SNV Germline	Chr13:23335743	Conflicting classifications of pathogenicity	Condition: not provided Spastic paraplegia Charlevoix-Saguenay spastic ataxia	Criteria Provided Conflicting Classifications	CA239312	rs_143386746	5 SubmittersRCV000173859 RCV001087614 RCV001273201
NM_014363.6(SACS):c.2643G>C (p.Glu881Asp)	SNV Germline	Chr13:23341233	Conflicting classifications of pathogenicity	Condition: not provided Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Conflicting Classifications	CA239314	rs_200517685	4 SubmittersRCV000173860 RCV000400126 RCV001085181
NM_014363.6(SACS):c.8414C>T (p.Thr2805Ile)	SNV Germline	Chr13:23335462	Conflicting classifications of pathogenicity	Condition: not provided Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Conflicting Classifications	CA239316	rs_772742353	6 SubmittersRCV000658671 RCV001276936 RCV001852116
NM_014363.6(SACS):c.3074A>T (p.Asn1025Ile)	SNV Germline	Chr13:23340802	Conflicting classifications of pathogenicity	Condition: not provided Spastic paraplegia Charlevoix-Saguenay spastic ataxia	Criteria Provided Conflicting Classifications	CA239318	rs_150981983	6 SubmittersRCV000173863 RCV001080295 RCV001277261
NM_006612.6(KIF1C):c.2099C>T (p.Pro700Leu)	SNV Germline	Chr17:5022180	Conflicting classifications of pathogenicity	Spastic ataxia 2 Condition: not provided Hereditary spastic paraplegia KIF1C-related disorder	Criteria Provided Conflicting Classifications	CA250364	rs_148934699	9 SubmittersRCV000191099 RCV000415815 RCV001847848 RCV003917729
NM_006612.6(KIF1C):c.2734C>T (p.Arg912Trp)	SNV Germline	Chr17:5023573	Conflicting classifications of pathogenicity	Spastic ataxia 2 Hereditary spastic paraplegia Condition: not provided KIF1C-related disorder	Criteria Provided Conflicting Classifications	CA250366	rs_202232792	7 SubmittersRCV000191100 RCV000516061 RCV000859538 RCV003917730
NM_014946.4(SPAST):c.1735A>C (p.Asn579His)	SNV Germline	Chr2:32154380	Conflicting classifications of pathogenicity	not specified Condition: not provided Hereditary spastic paraplegia 4 Spastic paraplegia Spastic ataxia Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA207191	rs_144594804	10 SubmittersRCV000193599 RCV000658865 RCV000509114 RCV001391562 RCV001640291 RCV001847874
NM_014363.6(SACS):c.10982C>T (p.Ala3661Val)	SNV Germline	Chr13:23332894	Conflicting classifications of pathogenicity	not specified Condition: not provided Charlevoix-Saguenay spastic ataxia Spastic paraplegia Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA207002	rs_36061856	11 SubmittersRCV000193480 RCV000230933 RCV000278445 RCV001079338 RCV001847870
NM_014363.6(SACS):c.10906C>T (p.Arg3636Ter)	SNV Germline	Chr13:23332970	Pathogenic/Likely pathogenic	Charlevoix-Saguenay spastic ataxia Spastic paraplegia Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA276970	rs_780247476	8 SubmittersRCV000192438 RCV000633059 RCV002517975
NM_014363.6(SACS):c.8393C>A (p.Pro2798Gln)	SNV Germline	Chr13:23335483	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia Spastic paraplegia Condition: not provided not specified Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA277355	rs_140551762	18 SubmittersRCV000194652 RCV000230214 RCV000513770 RCV001815246 RCV001847873
NM_014363.6(SACS):c.3427C>A (p.Gln1143Lys)	SNV Germline	Chr13:23340449	Conflicting classifications of pathogenicity	not specified Charlevoix-Saguenay spastic ataxia Condition: not provided Spastic paraplegia Hereditary spastic paraplegia SACS-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA207090	rs_144267558	13 SubmittersRCV000193535 RCV000338267 RCV000470007 RCV001083422 RCV001847871 RCV003907705 RCV004020340
NM_006005.3(WFS1):c.1371G>T (p.Arg457Ser)	SNV Germline	Chr4:6301166	Conflicting classifications of pathogenicity	Condition: not provided not specified Type 2 diabetes mellitus Cataract 41 Autosomal dominant nonsyndromic hearing loss 6 Wolfram syndrome 1 Wolfram-like syndrome Autosomal dominant nonsyndromic hearing loss 6 WFS1-Related Spectrum Disorders Monogenic diabetes Hearing impairment Spastic ataxia Inborn genetic diseases WFS1-related disorder	Criteria Provided Conflicting Classifications	CA320009	rs_113446173	13 SubmittersRCV000488089 RCV000603890 RCV000765780 RCV001153150 RCV001153151 RCV001174421 RCV001375054 RCV001640297 RCV004020439 RCV004530181
NM_003119.4(SPG7):c.2228T>C (p.Ile743Thr)	SNV Germline	Chr16:89556933	Pathogenic/Likely pathogenic	Condition: not provided Hereditary spastic paraplegia 7 Spastic ataxia Hereditary spastic paraplegia SPG7-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA323349	rs_752623413	16 SubmittersRCV000198819 RCV000500664 RCV001640295 RCV001847889 RCV003401074
NM_006796.3(AFG3L2):c.2314C>T (p.Leu772Phe)	SNV Germline	Chr18:12329645	Conflicting classifications of pathogenicity	not specified Spinocerebellar ataxia type 28 Condition: not provided Spastic ataxia 5	Criteria Provided Conflicting Classifications	CA321640	rs_117182113	8 SubmittersRCV000197194 RCV000369996 RCV000488282 RCV001262989
NM_006796.3(AFG3L2):c.2167G>A (p.Val723Met)	SNV Germline	Chr18:12337349	Conflicting classifications of pathogenicity	Condition: not provided Spinocerebellar ataxia type 28 Spastic ataxia 5 not specified Spinocerebellar ataxia type 28 Spastic ataxia 5 Optic atrophy 12 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA319947	rs_139469785	7 SubmittersRCV000195592 RCV001122821 RCV001640293 RCV001640294 RCV003224221 RCV002517193
NM_014363.6(SACS):c.11624G>A (p.Arg3875His)	SNV Germline	Chr13:23332252	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia Condition: not provided Charlevoix-Saguenay spastic ataxia	Criteria Provided Conflicting Classifications	CA351289	rs_863224916	4 SubmittersRCV001848018 RCV002305471 RCV001843500
NM_014363.6(SACS):c.4118C>T (p.Ala1373Val)	SNV Germline	Chr13:23339758	Conflicting classifications of pathogenicity	not specified Condition: not provided Charlevoix-Saguenay spastic ataxia Spastic paraplegia Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA6911430	rs_61548169	6 SubmittersRCV000290021 RCV000224523 RCV001112284 RCV001084237 RCV001847949
NM_014363.6(SACS):c.12649A>G (p.Asn4217Asp)	SNV Germline	Chr13:23331227	Conflicting classifications of pathogenicity	Condition: not provided not specified Charlevoix-Saguenay spastic ataxia Spastic paraplegia Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA6910119	rs_35799469	9 SubmittersRCV000224626 RCV000251185 RCV000322346 RCV001079358 RCV001847950
NM_014231.5(VAMP1):c.340+2T>G	SNV Germline	Chr12:6464888	Pathogenic	Spastic ataxia 1 Spastic paraplegia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA10583055	rs_878854975	4 SubmittersRCV000128446 RCV000233592 RCV000255544
NM_014363.6(SACS):c.12597A>G (p.Pro4199=)	SNV Germline	Chr13:23331279	Conflicting classifications of pathogenicity	Spastic paraplegia Charlevoix-Saguenay spastic ataxia not specified Condition: not provided Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA6910129	rs_112630127	7 SubmittersRCV000228765 RCV000379249 RCV000516975 RCV001560895 RCV001847972
NM_014363.6(SACS):c.11688G>A (p.Arg3896=)	SNV Germline	Chr13:23332188	Conflicting classifications of pathogenicity	Spastic paraplegia Charlevoix-Saguenay spastic ataxia not specified Condition: not provided Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA6910240	rs_116791509	7 SubmittersRCV000233808 RCV000293354 RCV000518611 RCV001563142 RCV001847971
NM_014363.6(SACS):c.10821C>A (p.Ile3607=)	SNV Germline	Chr13:23333055	Conflicting classifications of pathogenicity	Spastic paraplegia not specified Charlevoix-Saguenay spastic ataxia Condition: not provided Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA6910385	rs_113595574	7 SubmittersRCV000226968 RCV000516532 RCV001113446 RCV001689760 RCV001847970
NM_014363.6(SACS):c.10611A>G (p.Ala3537=)	SNV Germline	Chr13:23333265	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia not specified Condition: not provided Spastic paraplegia Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA6910424	rs_137856939	8 SubmittersRCV000392205 RCV000516579 RCV000710203 RCV001079473 RCV001847969
NM_014363.6(SACS):c.9031A>G (p.Ile3011Val)	SNV Germline	Chr13:23334845	Conflicting classifications of pathogenicity	Spastic paraplegia Charlevoix-Saguenay spastic ataxia Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6910674	rs_377657177	5 SubmittersRCV000232996 RCV000295984 RCV002518350
NM_014363.6(SACS):c.8339T>G (p.Phe2780Cys)	SNV Germline	Chr13:23335537	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia Condition: not provided Spastic paraplegia Hereditary spastic paraplegia not specified SACS-related disorder	Criteria Provided Conflicting Classifications	CA6910780	rs_111540787	12 SubmittersRCV000341299 RCV000676358 RCV001083821 RCV001847977 RCV002222460 RCV003929987
NM_014363.6(SACS):c.6781C>A (p.Leu2261Ile)	SNV Germline	Chr13:23337095	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia Condition: not provided Spastic paraplegia Hereditary spastic paraplegia SACS-related disorder	Criteria Provided Conflicting Classifications	CA6911032	rs_146722795	12 SubmittersRCV000260358 RCV000516875 RCV001081244 RCV001847976 RCV003929986
NM_014363.6(SACS):c.5848G>A (p.Asp1950Asn)	SNV Germline	Chr13:23338028	Conflicting classifications of pathogenicity	Spastic paraplegia Condition: not provided Charlevoix-Saguenay spastic ataxia	Criteria Provided Conflicting Classifications	CA6911186	rs_370902090	4 SubmittersRCV000225857 RCV000676365 RCV001578942
NM_014363.6(SACS):c.3391C>T (p.Leu1131Phe)	SNV Germline	Chr13:23340485	Conflicting classifications of pathogenicity	Spastic paraplegia Charlevoix-Saguenay spastic ataxia	Criteria Provided Conflicting Classifications	CA6911531	rs_139805032	3 SubmittersRCV000232090 RCV000988965
NM_014363.6(SACS):c.3129A>G (p.Ser1043=)	SNV Germline	Chr13:23340747	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia not specified Condition: not provided Spastic paraplegia Hereditary spastic paraplegia SACS-related disorder	Criteria Provided Conflicting Classifications	CA6911564	rs_148878361	13 SubmittersRCV000334685 RCV000372721 RCV000710205 RCV001082217 RCV001847975 RCV003929985
NM_014363.6(SACS):c.2988A>G (p.Leu996=)	SNV Germline	Chr13:23340888	Conflicting classifications of pathogenicity	not specified Condition: not provided Spastic paraplegia Charlevoix-Saguenay spastic ataxia Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA6911582	rs_111846884	9 SubmittersRCV000386665 RCV000761852 RCV001086002 RCV001109613 RCV001847974
NM_014363.6(SACS):c.7528G>A (p.Ala2510Thr)	SNV Germline	Chr13:23336348	Conflicting classifications of pathogenicity	not specified Condition: not provided Spastic paraplegia Charlevoix-Saguenay spastic ataxia Hereditary spastic paraplegia SACS-related disorder	Criteria Provided Conflicting Classifications	CA6910891	rs_111920492	13 SubmittersRCV000243536 RCV000710207 RCV001082626 RCV001112102 RCV001848029 RCV003891946
NM_014363.6(SACS):c.171+13C>T	SNV Germline	Chr13:23375106	Conflicting classifications of pathogenicity	not specified Charlevoix-Saguenay spastic ataxia Condition: not provided Spastic paraplegia	Criteria Provided Conflicting Classifications	CA6912178	rs_374672041	5 SubmittersRCV000250510 RCV000393585 RCV001566241 RCV002058247
NM_014363.6(SACS):c.2182C>T (p.Arg728Ter)	SNV Germline	Chr13:23353788	Pathogenic/Likely pathogenic	Condition: not provided Abnormal brain morphology Charlevoix-Saguenay spastic ataxia Hereditary spastic paraplegia Spastic paraplegia	Criteria Provided Multiple Submitters No Conflicts	CA6911751	rs_752059006	13 SubmittersRCV000393719 RCV000454220 RCV000984212 RCV001848046 RCV001859535
NM_014363.6(SACS):c.9508C>T (p.Arg3170Ter)	SNV Germline	Chr13:23334368	Pathogenic/Likely pathogenic	Condition: not provided Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Multiple Submitters No Conflicts	CA6910613	rs_202199411	7 SubmittersRCV000297710 RCV000411666 RCV001223182
NM_014363.6(SACS):c.9305T>A (p.Leu3102Ter)	SNV Germline	Chr13:23334571	Pathogenic	Condition: not provided Charlevoix-Saguenay spastic ataxia Ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and intellectual disability Spastic paraplegia	Criteria Provided Multiple Submitters No Conflicts	CA10603290	rs_886041949	7 SubmittersRCV000377502 RCV000762910 RCV001544509 RCV001379554
NM_014363.6(SACS):c.2996T>C (p.Ile999Thr)	SNV Germline	Chr13:23340880	Conflicting classifications of pathogenicity	Condition: not provided Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Conflicting Classifications	CA6911580	rs_371869943	7 SubmittersRCV000373496 RCV000681647 RCV002519084
NM_014363.6(SACS):c.1373C>T (p.Thr458Ile)	SNV Germline	Chr13:23355239	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia Charlevoix-Saguenay spastic ataxia Condition: not provided Spastic paraplegia not specified SACS-related disorder	Criteria Provided Conflicting Classifications	CA6911923	rs_61729954	16 SubmittersRCV000516147 RCV000603816 RCV000676372 RCV001082461 RCV001844110 RCV003930065
NM_014363.6(SACS):c.3752T>C (p.Ile1251Thr)	SNV Germline	Chr13:23340124	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia not specified Condition: not provided Spastic paraplegia Hereditary spastic paraplegia SACS-related disorder	Criteria Provided Conflicting Classifications	CA6911480	rs_76872266	8 SubmittersRCV000269188 RCV000282202 RCV000861200 RCV001086494 RCV001848052 RCV003947857
NM_014363.6(SACS):c.7140T>A (p.Asn2380Lys)	SNV Germline	Chr13:23336736	Conflicting classifications of pathogenicity	not specified Condition: not provided Spastic paraplegia Charlevoix-Saguenay spastic ataxia Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6910967	rs_61754478	9 SubmittersRCV000338875 RCV000725615 RCV001079763 RCV001109417 RCV002519175
NM_014363.6(SACS):c.8022T>C (p.Phe2674=)	SNV Germline	Chr13:23335854	Conflicting classifications of pathogenicity	Condition: not provided Charlevoix-Saguenay spastic ataxia Spastic paraplegia Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA6910829	rs_34928783	8 SubmittersRCV000512830 RCV001111636 RCV001085541 RCV001848058
NM_182961.4(SYNE1):c.25342G>A (p.Asp8448Asn)	SNV Germline	Chr6:152140066	Conflicting classifications of pathogenicity	Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Condition: not provided Emery-Dreifuss muscular dystrophy 4, autosomal dominant Spastic ataxia Autosomal recessive ataxia, Beauce type	Criteria Provided Conflicting Classifications	CA4052865	rs_139679692	6 SubmittersRCV000524861 RCV000713650 RCV001335277 RCV001642887 RCV003992260
NM_014363.6(SACS):c.10274A>G (p.Lys3425Arg)	SNV Germline	Chr13:23333602	Conflicting classifications of pathogenicity	not specified Charlevoix-Saguenay spastic ataxia Spastic paraplegia SACS-related disorder	Criteria Provided Conflicting Classifications	CA6910476	rs_147317123	7 SubmittersRCV000329092 RCV000327882 RCV001082514 RCV003967757
NM_014363.6(SACS):c.6240T>C (p.Val2080=)	SNV Germline	Chr13:23337636	Conflicting classifications of pathogenicity	Condition: not provided Spastic paraplegia Charlevoix-Saguenay spastic ataxia not specified	Criteria Provided Conflicting Classifications	CA6911113	rs_550680855	6 SubmittersRCV000676363 RCV001086386 RCV001111737 RCV001706417
NM_014363.6(SACS):c.1917A>G (p.Ala639=)	SNV Germline	Chr13:23354695	Conflicting classifications of pathogenicity	Condition: not provided Spastic paraplegia not specified Charlevoix-Saguenay spastic ataxia	Criteria Provided Conflicting Classifications	CA6911818	rs_138457742	4 SubmittersRCV000710204 RCV001078709 RCV001283505 RCV001782774
NM_014363.6(SACS):c.1066A>C (p.Ile356Leu)	SNV Germline	Chr13:23355546	Conflicting classifications of pathogenicity	not specified Condition: not provided Spastic paraplegia Charlevoix-Saguenay spastic ataxia SACS-related disorder	Criteria Provided Conflicting Classifications	CA6911977	rs_148286091	8 SubmittersRCV000392351 RCV000676373 RCV001083937 RCV001782775 RCV003957483
NM_014363.6(SACS):c.9852A>G (p.Thr3284=)	SNV Germline	Chr13:23334024	Conflicting classifications of pathogenicity	Condition: not provided Spastic paraplegia Charlevoix-Saguenay spastic ataxia not specified	Criteria Provided Conflicting Classifications	CA6910551	rs_147506904	5 SubmittersRCV000281392 RCV001089187 RCV001113530 RCV001288380
NM_014363.6(SACS):c.11703T>C (p.Asn3901=)	SNV Germline	Chr13:23332173	Conflicting classifications of pathogenicity	Condition: not provided Spastic paraplegia Hereditary spastic paraplegia Charlevoix-Saguenay spastic ataxia	Criteria Provided Conflicting Classifications	CA6910237	rs_146154135	5 SubmittersRCV000313782 RCV001089271 RCV001848062 RCV001782776
NM_014363.6(SACS):c.6008A>T (p.Asp2003Val)	SNV Germline	Chr13:23337868	Conflicting classifications of pathogenicity	Condition: not provided Charlevoix-Saguenay spastic ataxia Spastic paraplegia Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA6911152	rs_537408260	6 SubmittersRCV000390861 RCV000401468 RCV001087895 RCV001848064
NM_014363.6(SACS):c.13036G>A (p.Asp4346Asn)	SNV Germline	Chr13:23330840	Conflicting classifications of pathogenicity	Condition: not provided Charlevoix-Saguenay spastic ataxia Spastic paraplegia Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6910032	rs_372359781	8 SubmittersRCV000337604 RCV000765117 RCV002522028 RCV004021306
NM_014363.6(SACS):c.4279C>A (p.Pro1427Thr)	SNV Germline	Chr13:23339597	Conflicting classifications of pathogenicity	Condition: not provided Spastic paraplegia Charlevoix-Saguenay spastic ataxia	Criteria Provided Conflicting Classifications	CA6911409	rs_527513599	3 SubmittersRCV000333351 RCV001089050 RCV001782779
NM_014363.6(SACS):c.10896A>G (p.Ile3632Met)	SNV Germline	Chr13:23332980	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia not specified Spastic paraplegia Condition: not provided	Criteria Provided Conflicting Classifications	CA6910375	rs_35256065	8 SubmittersRCV000392204 RCV000518679 RCV000633069 RCV001573868
NM_014363.6(SACS):c.8379G>A (p.Gln2793=)	SNV Germline	Chr13:23335497	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Conflicting Classifications	CA6910769	rs_776028181	2 SubmittersRCV000390354 RCV002056364
NM_014363.6(SACS):c.7527T>C (p.Tyr2509=)	SNV Germline	Chr13:23336349	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia not specified Spastic paraplegia Condition: not provided	Criteria Provided Conflicting Classifications	CA6910892	rs_140034972	7 SubmittersRCV000275588 RCV000712990 RCV001083438 RCV001725163
NM_014363.6(SACS):c.6634A>G (p.Thr2212Ala)	SNV Germline	Chr13:23337242	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia Inborn genetic diseases Spastic paraplegia	Criteria Provided Conflicting Classifications	CA6911051	rs_556248979	5 SubmittersRCV000282675 RCV002520866 RCV000691162
NM_014363.6(SACS):c.6577G>A (p.Asp2193Asn)	SNV Germline	Chr13:23337299	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Conflicting Classifications	CA6911059	rs_149278134	2 SubmittersRCV000321278 RCV002522276
NM_014363.6(SACS):c.6059G>A (p.Gly2020Glu)	SNV Germline	Chr13:23337817	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia not specified Spastic paraplegia Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6911144	rs_747566710	6 SubmittersRCV000347234 RCV000517759 RCV000699474 RCV004021565
NM_014363.6(SACS):c.5932G>A (p.Val1978Ile)	SNV Germline	Chr13:23337944	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia Condition: not provided Spastic paraplegia	Criteria Provided Conflicting Classifications	CA6911169	rs_373812430	4 SubmittersRCV000312333 RCV000995036 RCV002522277
NM_014363.6(SACS):c.5930A>G (p.Lys1977Arg)	SNV Germline	Chr13:23337946	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Conflicting Classifications	CA6911170	rs_774492331	4 SubmittersRCV000350600 RCV000550324
NM_014363.6(SACS):c.5302C>T (p.His1768Tyr)	SNV Germline	Chr13:23338574	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Conflicting Classifications	CA6911269	rs_758381112	2 SubmittersRCV000297039 RCV002520867
NM_014363.6(SACS):c.4302A>G (p.Leu1434=)	SNV Germline	Chr13:23339574	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia not specified Spastic paraplegia Condition: not provided Hereditary spastic paraplegia SACS-related disorder	Criteria Provided Conflicting Classifications	CA6911407	rs_34559250	9 SubmittersRCV000357802 RCV000517025 RCV000864699 RCV001171670 RCV001848102 RCV003910159
NM_014363.6(SACS):c.3345C>T (p.Val1115=)	SNV Germline	Chr13:23340531	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia Spastic paraplegia not specified	Criteria Provided Conflicting Classifications	CA6911535	rs_143287019	5 SubmittersRCV000374188 RCV000860788 RCV001660627
NM_014363.6(SACS):c.3042A>G (p.Leu1014=)	SNV Germline	Chr13:23340834	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia Condition: not provided Spastic paraplegia	Criteria Provided Conflicting Classifications	CA6911574	rs_141982796	4 SubmittersRCV000399926 RCV000992787 RCV001416952
NM_014363.6(SACS):c.2497G>A (p.Glu833Lys)	SNV Germline	Chr13:23341379	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia Spastic paraplegia Condition: not provided	Criteria Provided Conflicting Classifications	CA6911678	rs_143433500	5 SubmittersRCV000309988 RCV000529780 RCV000517722
NM_014363.6(SACS):c.1278A>T (p.Leu426Phe)	SNV Germline	Chr13:23355334	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Conflicting Classifications	CA6911935	rs_138413501	5 SubmittersRCV000372498 RCV001060561
NM_014363.6(SACS):c.1081A>G (p.Lys361Glu)	SNV Germline	Chr13:23355531	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia Condition: not provided Spastic paraplegia	Criteria Provided Conflicting Classifications	CA6911975	rs_377027736	4 SubmittersRCV000293298 RCV000992772 RCV001500911
NM_014363.6(SACS):c.944A>G (p.Asp315Gly)	SNV Germline	Chr13:23355668	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Conflicting Classifications	CA6912001	rs_771115225	3 SubmittersRCV000289676 RCV002520873
NM_014363.6(SACS):c.11792A>G (p.Lys3931Arg)	SNV Germline	Chr13:23332084	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Conflicting Classifications	CA6910218	rs_764554878	3 SubmittersRCV000385354 RCV003750783
NM_014363.6(SACS):c.10064T>G (p.Ile3355Arg)	SNV Germline	Chr13:23333812	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Conflicting Classifications	CA6910515	rs_372488932	2 SubmittersRCV000273799 RCV003750784
NM_014363.6(SACS):c.8577C>T (p.His2859=)	SNV Germline	Chr13:23335299	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia Condition: not provided Spastic paraplegia	Criteria Provided Conflicting Classifications	CA6910746	rs_140016265	6 SubmittersRCV000338040 RCV000676357 RCV001088324
NM_014363.6(SACS):c.7165G>A (p.Val2389Met)	SNV Germline	Chr13:23336711	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia Spastic paraplegia not specified SACS-related disorder	Criteria Provided Conflicting Classifications	CA6910961	rs_142869943	6 SubmittersRCV000332938 RCV000863318 RCV001287913 RCV003930329
NM_014363.6(SACS):c.6069C>T (p.Asn2023=)	SNV Germline	Chr13:23337807	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia Spastic paraplegia not specified Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA6911143	rs_35369023	6 SubmittersRCV000289978 RCV000861552 RCV001660626 RCV001848100
NM_014363.6(SACS):c.5841C>T (p.Pro1947=)	SNV Germline	Chr13:23338035	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia Condition: not provided Spastic paraplegia	Criteria Provided Conflicting Classifications	CA6911189	rs_145371235	5 SubmittersRCV000392069 RCV000868830 RCV001081266
NM_014363.6(SACS):c.4117G>C (p.Ala1373Pro)	SNV Germline	Chr13:23339759	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia Spastic paraplegia Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA6911431	rs_61326562	5 SubmittersRCV000323040 RCV000884011 RCV001848103
NM_014363.6(SACS):c.3144A>G (p.Val1048=)	SNV Germline	Chr13:23340732	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia Condition: not provided Spastic paraplegia Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA6911561	rs_3751369	6 SubmittersRCV000279611 RCV000712974 RCV001081930 RCV001848104
NM_014363.6(SACS):c.2788A>G (p.Ile930Val)	SNV Germline	Chr13:23341088	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia Spastic paraplegia Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10639237	rs_886050088	5 SubmittersRCV000313588 RCV000700339 RCV003165837
NM_014363.6(SACS):c.2487C>T (p.Asp829=)	SNV Germline	Chr13:23341389	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Conflicting Classifications	CA6911682	rs_151198216	4 SubmittersRCV000364679 RCV000867241
NM_014363.6(SACS):c.1640C>T (p.Pro547Leu)	SNV Germline	Chr13:23354972	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Conflicting Classifications	CA6911879	rs_140507581	3 SubmittersRCV000375874 RCV002520870
NM_014363.6(SACS):c.1066A>G (p.Ile356Val)	SNV Germline	Chr13:23355546	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia Condition: not provided Hereditary spastic paraplegia Spastic paraplegia	Criteria Provided Conflicting Classifications	CA6911978	rs_148286091	6 SubmittersRCV000348179 RCV001660628 RCV001848108 RCV002522279
NM_014363.6(SACS):c.12438G>A (p.Ser4146=)	SNV Germline	Chr13:23331438	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia Spastic paraplegia Hereditary spastic paraplegia Condition: not provided	Criteria Provided Conflicting Classifications	CA6910143	rs_150959878	5 SubmittersRCV000268383 RCV000861751 RCV001848096 RCV003992276
NM_014363.6(SACS):c.12216T>A (p.Thr4072=)	SNV Germline	Chr13:23331660	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia not specified Spastic paraplegia	Criteria Provided Conflicting Classifications	CA6910164	rs_574182225	5 SubmittersRCV000382122 RCV000518146 RCV000865044
NM_014363.6(SACS):c.12063T>C (p.His4021=)	SNV Germline	Chr13:23331813	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Conflicting Classifications	CA10643105	rs_886050074	2 SubmittersRCV000290073 RCV002056363
NM_014363.6(SACS):c.11928T>C (p.Ser3976=)	SNV Germline	Chr13:23331948	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia Spastic paraplegia not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA6910201	rs_145680118	6 SubmittersRCV000347323 RCV000862657 RCV001660625 RCV003409483
NM_014363.6(SACS):c.11409G>T (p.Trp3803Cys)	SNV Germline	Chr13:23332467	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia Spastic paraplegia Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10643107	rs_886050075	3 SubmittersRCV000350663 RCV002520863 RCV004021564
NM_014363.6(SACS):c.10443C>G (p.Leu3481=)	SNV Germline	Chr13:23333433	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia Spastic paraplegia Condition: not provided not specified Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA6910450	rs_144087359	9 SubmittersRCV000361442 RCV000862081 RCV001288370 RCV001723893 RCV001848097
NM_014363.6(SACS):c.8056C>T (p.Leu2686=)	SNV Germline	Chr13:23335820	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Conflicting Classifications	CA10643113	rs_748595405	2 SubmittersRCV000401979 RCV002520864
NM_014363.6(SACS):c.7647T>G (p.Leu2549=)	SNV Germline	Chr13:23336229	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia Spastic paraplegia Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA6910879	rs_186301471	5 SubmittersRCV000310623 RCV000865836 RCV001848098
NM_014363.6(SACS):c.6561C>T (p.Ile2187=)	SNV Germline	Chr13:23337315	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Conflicting Classifications	CA6911064	rs_143477126	4 SubmittersRCV000378234 RCV000863703
NM_014363.6(SACS):c.5222C>T (p.Thr1741Ile)	SNV Germline	Chr13:23338654	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia Spastic paraplegia Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA6911277	rs_201724656	5 SubmittersRCV000354216 RCV000876841 RCV001848101
NM_014363.6(SACS):c.3868G>T (p.Ala1290Ser)	SNV Germline	Chr13:23340008	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia not specified Spastic paraplegia	Criteria Provided Conflicting Classifications	CA6911463	rs_757939935	4 SubmittersRCV000379945 RCV000501904 RCV002520869
NM_014363.6(SACS):c.3545C>T (p.Ala1182Val)	SNV Germline	Chr13:23340331	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Conflicting Classifications	CA6911512	rs_373859681	2 SubmittersRCV000283262 RCV002522278
NM_014363.6(SACS):c.1608G>A (p.Pro536=)	SNV Germline	Chr13:23355004	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Conflicting Classifications	CA6911885	rs_745730439	2 SubmittersRCV000262582 RCV001504466
NM_014363.6(SACS):c.1463C>T (p.Pro488Leu)	SNV Germline	Chr13:23355149	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia Spastic paraplegia Condition: not provided Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA6911912	rs_375875022	6 SubmittersRCV000317718 RCV000464896 RCV000712962 RCV001848106
NM_014363.6(SACS):c.1224C>T (p.Asp408=)	SNV Germline	Chr13:23355388	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia Condition: not provided Spastic paraplegia	Criteria Provided Conflicting Classifications	CA6911949	rs_2274386	5 SubmittersRCV000296723 RCV000862553 RCV001079181
NM_014363.6(SACS):c.47G>T (p.Gly16Val)	SNV Germline	Chr13:23375243	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia Condition: not provided Spastic paraplegia	Criteria Provided Conflicting Classifications	CA10643120	rs_886050090	5 SubmittersRCV000260394 RCV000712975 RCV002520874
NM_014363.6(SACS):c.-219A>G	SNV Germline	Chr13:23411458	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia Condition: not provided	Criteria Provided Conflicting Classifications	CA10643121	rs_74495070	3 SubmittersRCV000385634 RCV001559393
NM_014363.6(SACS):c.10716C>G (p.Pro3572=)	SNV Germline	Chr13:23333160	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Conflicting Classifications	CA10644019	rs_886050077	3 SubmittersRCV000300713 RCV001493823
NM_014363.6(SACS):c.10576A>G (p.Ile3526Val)	SNV Germline	Chr13:23333300	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Conflicting Classifications	CA6910428	rs_199881455	3 SubmittersRCV000304456 RCV001504069
NM_014363.6(SACS):c.9887C>T (p.Pro3296Leu)	SNV Germline	Chr13:23333989	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Conflicting Classifications	CA6910546	rs_779195622	2 SubmittersRCV000388007 RCV003588614
NM_014363.6(SACS):c.8990G>A (p.Arg2997Gln)	SNV Germline	Chr13:23334886	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Conflicting Classifications	CA6910682	rs_139670073	4 SubmittersRCV000315960 RCV001411302
NM_014363.6(SACS):c.8022T>G (p.Phe2674Leu)	SNV Germline	Chr13:23335854	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia not specified Spastic paraplegia	Criteria Provided Conflicting Classifications	CA6910830	rs_34928783	5 SubmittersRCV000306392 RCV000516257 RCV001477679
NM_014363.6(SACS):c.7713A>T (p.Pro2571=)	SNV Germline	Chr13:23336163	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Conflicting Classifications	CA6910868	rs_557113294	4 SubmittersRCV000406766 RCV002056365
NM_014363.6(SACS):c.6952G>A (p.Ala2318Thr)	SNV Germline	Chr13:23336924	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia Condition: not provided Spastic paraplegia Spastic ataxia Hereditary spastic paraplegia Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6910993	rs_147949881	10 SubmittersRCV000371368 RCV000712986 RCV001247269 RCV001642968 RCV001848099 RCV002520865
NM_014363.6(SACS):c.4936C>A (p.Leu1646Met)	SNV Germline	Chr13:23338940	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia Condition: not provided Spastic paraplegia Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6911320	rs_200810800	7 SubmittersRCV000300780 RCV000516210 RCV001242340 RCV002520868
NM_014363.6(SACS):c.2681C>T (p.Ser894Leu)	SNV Germline	Chr13:23341195	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia Condition: not provided Spastic paraplegia not specified	Criteria Provided Conflicting Classifications	CA6911646	rs_201857647	5 SubmittersRCV000349604 RCV000712971 RCV001080014 RCV001706475
NM_014363.6(SACS):c.1912T>G (p.Cys638Gly)	SNV Germline	Chr13:23354700	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia Condition: not provided Spastic paraplegia Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA6911820	rs_200333323	5 SubmittersRCV000306464 RCV001288709 RCV001400059 RCV001848105
NM_014363.6(SACS):c.1728C>T (p.Tyr576=)	SNV Germline	Chr13:23354884	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Conflicting Classifications	CA6911860	rs_750748828	4 SubmittersRCV000266493 RCV000875331
NM_014363.6(SACS):c.1219C>A (p.Leu407Ile)	SNV Germline	Chr13:23355393	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia Hereditary spastic paraplegia Condition: not provided Spastic paraplegia	Criteria Provided Conflicting Classifications	CA6911950	rs_201569239	4 SubmittersRCV000333051 RCV001848107 RCV002472984 RCV002520871
NM_014363.6(SACS):c.954A>G (p.Leu318=)	SNV Germline	Chr13:23355658	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Conflicting Classifications	CA6911998	rs_147412202	2 SubmittersRCV000390104 RCV002520872
NM_014363.6(SACS):c.345+14C>T	SNV Germline	Chr13:23368388	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Conflicting Classifications	CA6912122	rs_538944334	2 SubmittersRCV000359589 RCV003588615
NM_014363.6(SACS):c.99T>C (p.Asp33=)	SNV Germline	Chr13:23375191	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia Condition: not provided Spastic paraplegia not specified	Criteria Provided Conflicting Classifications	CA6912185	rs_775206528	6 SubmittersRCV000355437 RCV000863241 RCV001083423 RCV001288381
NM_173500.4(TTBK2):c.595C>T (p.Arg199Trp)	SNV Germline	Chr15:42817040	Conflicting classifications of pathogenicity	Spinocerebellar ataxia type 11 Condition: not provided Spastic ataxia Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7517435	rs_200125366	5 SubmittersRCV000400925 RCV001357218 RCV001642984 RCV002522790
NM_014363.6(SACS):c.13132C>T (p.Arg4378Ter)	SNV Germline	Chr13:23330744	Pathogenic/Likely pathogenic	Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Multiple Submitters No Conflicts	CA16041597	rs_747868017	3 SubmittersRCV000410263 RCV001865265
NM_014363.6(SACS):c.11374C>T (p.Arg3792Ter)	SNV Germline	Chr13:23332502	Pathogenic	Charlevoix-Saguenay spastic ataxia Condition: not provided Spastic paraplegia	Criteria Provided Multiple Submitters No Conflicts	CA16041601	rs_565203731	8 SubmittersRCV000411243 RCV001310676 RCV003766121
NM_014363.6(SACS):c.11185C>T (p.Gln3729Ter)	SNV Unknown	Chr13:23332691	Likely pathogenic	Charlevoix-Saguenay spastic ataxia	Criteria Provided Single Submitter	CA16041602	rs_1057516398	1 SubmittersRCV000409109
NM_014363.6(SACS):c.10864C>T (p.Gln3622Ter)	SNV Unknown	Chr13:23333012	Likely pathogenic	Charlevoix-Saguenay spastic ataxia	Criteria Provided Single Submitter	CA16041604	rs_1057516578	1 SubmittersRCV000412194
NM_014363.6(SACS):c.10804C>T (p.Gln3602Ter)	SNV Germline	Chr13:23333072	Pathogenic/Likely pathogenic	Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Multiple Submitters No Conflicts	CA16041606	rs_1057517002	3 SubmittersRCV000411733 RCV001861386
NM_014363.6(SACS):c.10497C>A (p.Tyr3499Ter)	SNV Germline	Chr13:23333379	Pathogenic/Likely pathogenic	Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Multiple Submitters No Conflicts	CA16041607	rs_755186798	2 SubmittersRCV000409179 RCV001861363
NM_014363.6(SACS):c.10136T>G (p.Leu3379Ter)	SNV Germline	Chr13:23333740	Pathogenic/Likely pathogenic	Charlevoix-Saguenay spastic ataxia Condition: not provided Spastic paraplegia	Criteria Provided Multiple Submitters No Conflicts	CA16041608	rs_1057517250	7 SubmittersRCV000412241 RCV000992769 RCV001861393
NM_014363.6(SACS):c.8867T>A (p.Leu2956Ter)	SNV Unknown	Chr13:23335009	Likely pathogenic	Charlevoix-Saguenay spastic ataxia	Criteria Provided Single Submitter	CA16041614	rs_1057516853	1 SubmittersRCV000411855
NM_014363.6(SACS):c.7861C>T (p.Gln2621Ter)	SNV Unknown	Chr13:23336015	Likely pathogenic	Charlevoix-Saguenay spastic ataxia	Criteria Provided Single Submitter	CA16041617	rs_1057517014	1 SubmittersRCV000408978
NM_014363.6(SACS):c.7394C>A (p.Ser2465Ter)	SNV Unknown	Chr13:23336482	Likely pathogenic	Charlevoix-Saguenay spastic ataxia	Criteria Provided Single Submitter	CA16041621	rs_747676277	1 SubmittersRCV000411674
NM_014363.6(SACS):c.7273C>T (p.Arg2425Ter)	SNV Germline	Chr13:23336603	Pathogenic/Likely pathogenic	Charlevoix-Saguenay spastic ataxia Condition: not provided Spastic paraplegia	Criteria Provided Multiple Submitters No Conflicts	CA6910940	rs_145766983	6 SubmittersRCV000412060 RCV000599123 RCV000704868
NM_014363.6(SACS):c.5629C>T (p.Arg1877Ter)	SNV Germline	Chr13:23338247	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia Hereditary spastic paraplegia Spastic paraplegia	Criteria Provided Conflicting Classifications	CA6911218	rs_761089024	5 SubmittersRCV000409299 RCV000515938 RCV001865273
NM_014363.6(SACS):c.5469C>A (p.Cys1823Ter)	SNV Unknown	Chr13:23338407	Likely pathogenic	Charlevoix-Saguenay spastic ataxia	Criteria Provided Single Submitter	CA16041631	rs_1057517172	1 SubmittersRCV000409004
NM_014363.6(SACS):c.5125C>T (p.Gln1709Ter)	SNV Germline	Chr13:23338751	Pathogenic	Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Multiple Submitters No Conflicts	CA16041633	rs_1057517311	6 SubmittersRCV000412006 RCV001224413
NM_014363.6(SACS):c.4298G>A (p.Trp1433Ter)	SNV Unknown	Chr13:23339578	Likely pathogenic	Charlevoix-Saguenay spastic ataxia	Criteria Provided Single Submitter	CA16041638	rs_1057516930	1 SubmittersRCV000410424
NM_014363.6(SACS):c.4095G>A (p.Trp1365Ter)	SNV Germline	Chr13:23339781	Pathogenic/Likely pathogenic	Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Multiple Submitters No Conflicts	CA16041639	rs_1057516779	4 SubmittersRCV000412449 RCV003588623
NM_014363.6(SACS):c.2957T>A (p.Leu986Ter)	SNV Unknown	Chr13:23340919	Likely pathogenic	Charlevoix-Saguenay spastic ataxia	Criteria Provided Single Submitter	CA6911585	rs_766457071	1 SubmittersRCV000409140
NM_014363.6(SACS):c.2330C>A (p.Ser777Ter)	SNV Unknown	Chr13:23341546	Likely pathogenic	Charlevoix-Saguenay spastic ataxia	Criteria Provided Single Submitter	CA16041647	rs_1057517437	1 SubmittersRCV000409346
NM_014363.6(SACS):c.2224C>T (p.Arg742Ter)	SNV Germline	Chr13:23341652	Pathogenic/Likely pathogenic	Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Multiple Submitters No Conflicts	CA16041648	rs_1057517285	2 SubmittersRCV000412381 RCV002523873
NM_014363.6(SACS):c.2186-2A>G	SNV Unknown	Chr13:23341692	Likely pathogenic	Charlevoix-Saguenay spastic ataxia	Criteria Provided Single Submitter	CA16041649	rs_1057516554	1 SubmittersRCV000410645
NM_014363.6(SACS):c.1A>G (p.Met1Val)	SNV Unknown	Chr13:23411239	Likely pathogenic	Charlevoix-Saguenay spastic ataxia	Criteria Provided Single Submitter	CA6912209	rs_771943685	1 SubmittersRCV000409645
NM_014363.6(SACS):c.13538G>A (p.Ser4513Asn)	SNV Germline	Chr13:23330338	Conflicting classifications of pathogenicity	not specified Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Conflicting Classifications	CA6909946	rs_138328181	3 SubmittersRCV000413289 RCV001274915 RCV002523949
NM_014363.6(SACS):c.11884A>T (p.Ile3962Leu)	SNV Germline	Chr13:23331992	Conflicting classifications of pathogenicity	not specified Spastic paraplegia Charlevoix-Saguenay spastic ataxia	Criteria Provided Conflicting Classifications	CA6910211	rs_746953932	5 SubmittersRCV000413922 RCV000863721 RCV001111441
NM_003560.4(PLA2G6):c.209G>A (p.Arg70Gln)	SNV Germline	Chr22:38169218	Conflicting classifications of pathogenicity	Condition: not provided PLA2G6-associated neurodegeneration Spastic ataxia Infantile neuroaxonal dystrophy	Criteria Provided Conflicting Classifications	CA10231350	rs_11570607	4 SubmittersRCV000416070 RCV001144722 RCV001643138 RCV001865303
NM_006796.3(AFG3L2):c.1951A>G (p.Arg651Gly)	SNV Germline	Chr18:12340230	Likely pathogenic	Spastic ataxia 5	No Assertion Criteria Provided	CA16043984	rs_764254189	1 SubmittersRCV000415684
NM_014363.6(SACS):c.5842G>A (p.Asp1948Asn)	SNV Germline	Chr13:23338034	Conflicting classifications of pathogenicity	Condition: not provided Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Conflicting Classifications	CA6911188	rs_772515267	3 SubmittersRCV000434730 RCV001828396 RCV001851025
NM_016035.5(COQ4):c.402+1G>C	SNV Germline	Chr9:128325882	Pathogenic/Likely pathogenic	Condition: not provided Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome COQ4-related disorder Spastic ataxia 10, autosomal recessive	Criteria Provided Multiple Submitters No Conflicts	CA5260544	rs_747779231	4 SubmittersRCV000445097 RCV000845241 RCV003409591 RCV003482255
NM_006612.6(KIF1C):c.1365C>T (p.Asn455=)	SNV Germline	Chr17:5007292	Conflicting classifications of pathogenicity	not specified Condition: not provided Spastic ataxia 2 Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA8318954	rs_142825776	4 SubmittersRCV000421127 RCV001311102 RCV001451575 RCV001848778
NM_006612.6(KIF1C):c.1666+5T>C	SNV Germline	Chr17:5014842	Conflicting classifications of pathogenicity	not specified Spastic ataxia 2	Criteria Provided Conflicting Classifications	CA16607740	rs_1057523116	2 SubmittersRCV000436674 RCV002526347
NM_014363.6(SACS):c.7991G>T (p.Gly2664Val)	SNV Germline	Chr13:23335885	Likely pathogenic	Charlevoix-Saguenay spastic ataxia	Criteria Provided Single Submitter	CA16609396	rs_1060499656	1 SubmittersRCV000449537
NM_014363.6(SACS):c.9404T>C (p.Leu3135Ser)	SNV Germline	Chr13:23334472	Conflicting classifications of pathogenicity	Spastic paraplegia Condition: not provided Charlevoix-Saguenay spastic ataxia Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA6910624	rs_371019314	6 SubmittersRCV000463355 RCV000712993 RCV001782958 RCV001848816
NM_014363.6(SACS):c.8245A>G (p.Ile2749Val)	SNV Germline	Chr13:23335631	Conflicting classifications of pathogenicity	Spastic paraplegia Condition: not provided Charlevoix-Saguenay spastic ataxia Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA6910801	rs_186436335	5 SubmittersRCV000473308 RCV000594324 RCV000765121 RCV001848817
NM_014363.6(SACS):c.11707C>T (p.Arg3903Ter)	SNV Germline	Chr13:23332169	Pathogenic	Spastic paraplegia Inborn genetic diseases Charlevoix-Saguenay spastic ataxia	Criteria Provided Multiple Submitters No Conflicts	CA6910236	rs_774906736	5 SubmittersRCV000458276 RCV000624366 RCV001785620
NM_014363.6(SACS):c.1033C>T (p.Arg345Trp)	SNV Germline	Chr13:23355579	Conflicting classifications of pathogenicity	Condition: not provided Spastic paraplegia Charlevoix-Saguenay spastic ataxia Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6911986	rs_776156836	6 SubmittersRCV000519338 RCV000466492 RCV001271972 RCV004022883
NM_014363.6(SACS):c.10954C>A (p.Pro3652Thr)	SNV Germline	Chr13:23332922	Conflicting classifications of pathogenicity	Spastic paraplegia Condition: not provided Charlevoix-Saguenay spastic ataxia	Criteria Provided Conflicting Classifications	CA6910364	rs_201505036	4 SubmittersRCV000466695 RCV001288373 RCV001833594
NM_006612.6(KIF1C):c.646C>T (p.Arg216Cys)	SNV Germline	Chr17:5002768	Likely pathogenic	Condition: not provided Spastic ataxia 2	Criteria Provided Single Submitter	CA16620467	rs_1064796693	2 SubmittersRCV000485547 RCV000985162
NM_006612.6(KIF1C):c.1111G>A (p.Ala371Thr)	SNV Germline	Chr17:5004946	Conflicting classifications of pathogenicity	Condition: not provided not specified Hereditary spastic paraplegia Spastic ataxia 2	Criteria Provided Conflicting Classifications	CA8318865	rs_142056835	5 SubmittersRCV000487792 RCV000497507 RCV000516075 RCV001079974
NM_006612.6(KIF1C):c.2299G>A (p.Gly767Arg)	SNV Germline	Chr17:5022380	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia Condition: not provided Spastic ataxia 2 KIF1C-related disorder	Criteria Provided Conflicting Classifications	CA8319262	rs_118037269	6 SubmittersRCV000516023 RCV000645370 RCV001085955 RCV003915341
NM_006612.6(KIF1C):c.866A>C (p.Gln289Pro)	SNV Germline	Chr17:5003999	Conflicting classifications of pathogenicity	Condition: not provided Spastic ataxia 2 Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA8318771	rs_146872023	4 SubmittersRCV000488299 RCV001085446 RCV001848856
NM_014363.6(SACS):c.11737G>C (p.Asp3913His)	SNV Germline	Chr13:23332139	Conflicting classifications of pathogenicity	Condition: not provided Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Conflicting Classifications	CA6910228	rs_746782589	3 SubmittersRCV000494097 RCV001829412 RCV002527093
NM_177400.3(NKX6-2):c.121A>T (p.Lys41Ter)	SNV Germline	Chr10:132785828	Pathogenic	Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA378772049	rs_1131692047	5 SubmittersRCV000494722
NM_177400.3(NKX6-2):c.487C>G (p.Leu163Val)	SNV Germline	Chr10:132785372	Pathogenic	Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA378769959	rs_1131692048	6 SubmittersRCV000494724
NM_014363.6(SACS):c.4900G>C (p.Glu1634Gln)	SNV Germline	Chr13:23338976	Conflicting classifications of pathogenicity	not specified Charlevoix-Saguenay spastic ataxia Spastic paraplegia Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA6911327	rs_143961484	6 SubmittersRCV000503684 RCV000765124 RCV000551798 RCV001848875
NM_006612.6(KIF1C):c.3272G>A (p.Arg1091His)	SNV Germline	Chr17:5024111	Conflicting classifications of pathogenicity	not specified Spastic ataxia 2 KIF1C-related disorder	Criteria Provided Conflicting Classifications	CA8319527	rs_201800868	3 SubmittersRCV000502000 RCV000953949 RCV003902779
NM_014363.6(SACS):c.5732C>T (p.Thr1911Met)	SNV Germline	Chr13:23338144	Conflicting classifications of pathogenicity	Condition: not provided Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Conflicting Classifications	CA6911204	rs_368494148	7 SubmittersRCV000513129 RCV001275193 RCV002527402
NM_006612.6(KIF1C):c.1165+4G>A	SNV Germline	Chr17:5005004	Conflicting classifications of pathogenicity	Condition: not provided Spastic ataxia 2 Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA8318879	rs_192489748	5 SubmittersRCV000514056 RCV001080394 RCV001848880
NM_014363.6(SACS):c.13269A>T (p.Ser4423=)	SNV Germline	Chr13:23330607	Conflicting classifications of pathogenicity	not specified Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Conflicting Classifications	CA483157685	rs_1180908312	3 SubmittersRCV000517276 RCV001783016 RCV001430724
NM_014363.6(SACS):c.13039A>G (p.Ile4347Val)	SNV Germline	Chr13:23330837	Conflicting classifications of pathogenicity	not specified Spastic paraplegia Charlevoix-Saguenay spastic ataxia	Criteria Provided Conflicting Classifications	CA6910031	rs_200939906	3 SubmittersRCV000516513 RCV001412104 RCV001783015
NM_014363.6(SACS):c.10622A>G (p.Tyr3541Cys)	SNV Germline	Chr13:23333254	Conflicting classifications of pathogenicity	Condition: not provided Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Conflicting Classifications	CA6910422	rs_747013127	3 SubmittersRCV000517352 RCV001829472 RCV002525070
NM_014363.6(SACS):c.10118C>T (p.Thr3373Ile)	SNV Germline	Chr13:23333758	Conflicting classifications of pathogenicity	not specified Condition: not provided Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Conflicting Classifications	CA6910502	rs_200591364	4 SubmittersRCV000517432 RCV000676353 RCV001834668 RCV002527516
NM_014363.6(SACS):c.9550C>T (p.Arg3184Cys)	SNV Germline	Chr13:23334326	Conflicting classifications of pathogenicity	not specified Spastic paraplegia Charlevoix-Saguenay spastic ataxia	Criteria Provided Conflicting Classifications	CA6910606	rs_143557803	5 SubmittersRCV000518073 RCV000560872 RCV001113533
NM_014363.6(SACS):c.9173T>G (p.Leu3058Arg)	SNV Germline	Chr13:23334703	Conflicting classifications of pathogenicity	not specified Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Conflicting Classifications	CA6910654	rs_758654165	3 SubmittersRCV000516989 RCV001829476 RCV002525076
NM_014363.6(SACS):c.8972G>A (p.Arg2991His)	SNV Germline	Chr13:23334904	Conflicting classifications of pathogenicity	Condition: not provided Charlevoix-Saguenay spastic ataxia Spastic paraplegia not specified Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA6910684	rs_192610957	6 SubmittersRCV000518535 RCV000765119 RCV001085517 RCV001644612 RCV001848898
NM_014363.6(SACS):c.8971C>T (p.Arg2991Cys)	SNV Germline	Chr13:23334905	Conflicting classifications of pathogenicity	not specified Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Conflicting Classifications	CA6910685	rs_759112797	3 SubmittersRCV000517800 RCV001834673 RCV003588642
NM_014363.6(SACS):c.8315G>C (p.Gly2772Ala)	SNV Germline	Chr13:23335561	Conflicting classifications of pathogenicity	not specified Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Conflicting Classifications	CA6910788	rs_763504656	5 SubmittersRCV000516833 RCV000765120 RCV002525074
NM_014363.6(SACS):c.6336A>C (p.Arg2112Ser)	SNV Germline	Chr13:23337540	Conflicting classifications of pathogenicity	Spastic paraplegia Condition: not provided Charlevoix-Saguenay spastic ataxia Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA6911101	rs_80132141	5 SubmittersRCV001080771 RCV000517696 RCV001111736 RCV001848895
NM_014363.6(SACS):c.6266C>T (p.Ser2089Leu)	SNV Germline	Chr13:23337610	Conflicting classifications of pathogenicity	Condition: not provided Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Conflicting Classifications	CA6911108	rs_370095300	3 SubmittersRCV000516945 RCV001276938 RCV002527521
NM_014363.6(SACS):c.6084A>T (p.Glu2028Asp)	SNV Germline	Chr13:23337792	Conflicting classifications of pathogenicity	not specified Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Conflicting Classifications	CA6911139	rs_149018756	3 SubmittersRCV000518824 RCV001276939 RCV002060257
NM_014363.6(SACS):c.6051G>C (p.Lys2017Asn)	SNV Germline	Chr13:23337825	Conflicting classifications of pathogenicity	Condition: not provided Charlevoix-Saguenay spastic ataxia Hereditary spastic paraplegia Spastic paraplegia	Criteria Provided Conflicting Classifications	CA6911147	rs_35865691	6 SubmittersRCV000516670 RCV001112183 RCV001848894 RCV001082654
NM_014363.6(SACS):c.6030G>T (p.Lys2010Asn)	SNV Germline	Chr13:23337846	Conflicting classifications of pathogenicity	not specified Spastic paraplegia Charlevoix-Saguenay spastic ataxia SACS-related disorder	Criteria Provided Conflicting Classifications	CA6911148	rs_769751841	5 SubmittersRCV000518243 RCV000803901 RCV001783017 RCV003960224
NM_014363.6(SACS):c.5583G>C (p.Trp1861Cys)	SNV Germline	Chr13:23338293	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia Condition: not provided Inborn genetic diseases Spastic paraplegia	Criteria Provided Conflicting Classifications	CA6911227	rs_140678034	4 SubmittersRCV001276941 RCV002473033 RCV002525073 RCV002527519
NM_014363.6(SACS):c.5419G>A (p.Glu1807Lys)	SNV Germline	Chr13:23338457	Conflicting classifications of pathogenicity	not specified Spastic paraplegia Charlevoix-Saguenay spastic ataxia SACS-related disorder	Criteria Provided Conflicting Classifications	CA6911250	rs_375805688	5 SubmittersRCV000516475 RCV000863881 RCV001109527 RCV003900079
NM_014363.6(SACS):c.5391G>C (p.Lys1797Asn)	SNV Germline	Chr13:23338485	Conflicting classifications of pathogenicity	Condition: not provided Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Conflicting Classifications	CA6911253	rs_144715822	4 SubmittersRCV000518362 RCV001109528 RCV001433538
NM_014363.6(SACS):c.4612A>G (p.Ile1538Val)	SNV Germline	Chr13:23339264	Conflicting classifications of pathogenicity	not specified Spastic paraplegia Charlevoix-Saguenay spastic ataxia	Criteria Provided Conflicting Classifications	CA6911368	rs_544249449	4 SubmittersRCV000518100 RCV000547323 RCV001275196
NM_014363.6(SACS):c.2926C>A (p.Arg976Ser)	SNV Germline	Chr13:23340950	Conflicting classifications of pathogenicity	Condition: not provided Spastic paraplegia Charlevoix-Saguenay spastic ataxia Hereditary spastic paraplegia not specified SACS-related disorder	Criteria Provided Conflicting Classifications	CA6911590	rs_139993038	9 SubmittersRCV000516574 RCV001081341 RCV001109615 RCV001848892 RCV001644611 RCV003905307
NM_014363.6(SACS):c.2602A>G (p.Ile868Val)	SNV Germline	Chr13:23341274	Conflicting classifications of pathogenicity	Spastic paraplegia Charlevoix-Saguenay spastic ataxia Condition: not provided Inborn genetic diseases Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA6911659	rs_142284018	7 SubmittersRCV000820462 RCV001111916 RCV000518481 RCV002525072 RCV001848891
NM_014363.6(SACS):c.1885G>A (p.Ala629Thr)	SNV Germline	Chr13:23354727	Conflicting classifications of pathogenicity	Condition: not provided Spastic paraplegia Charlevoix-Saguenay spastic ataxia Inborn genetic diseases Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA6911833	rs_149638449	7 SubmittersRCV000518207 RCV001083870 RCV001113726 RCV002525071 RCV001848890
NM_014363.6(SACS):c.1519A>G (p.Thr507Ala)	SNV Germline	Chr13:23355093	Conflicting classifications of pathogenicity	not specified Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Conflicting Classifications	CA6911906	rs_372022664	4 SubmittersRCV000518256 RCV001271971 RCV001409443
NM_014363.6(SACS):c.973G>A (p.Gly325Arg)	SNV Germline	Chr13:23355639	Conflicting classifications of pathogenicity	Spastic paraplegia Charlevoix-Saguenay spastic ataxia Condition: not provided	Criteria Provided Conflicting Classifications	CA6911994	rs_144303334	5 SubmittersRCV001083131 RCV001112021 RCV000518798
NM_014363.6(SACS):c.810T>G (p.Phe270Leu)	SNV Germline	Chr13:23355802	Conflicting classifications of pathogenicity	Condition: not provided not specified Spastic paraplegia Charlevoix-Saguenay spastic ataxia Hereditary spastic paraplegia SACS-related disorder	Criteria Provided Conflicting Classifications	CA6912021	rs_116907814	9 SubmittersRCV000517365 RCV000728923 RCV001085212 RCV001112465 RCV001848897 RCV003962434
NM_014363.6(SACS):c.134C>T (p.Pro45Leu)	SNV Germline	Chr13:23375156	Conflicting classifications of pathogenicity	not specified Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Conflicting Classifications	CA13805936	rs_1033188876	3 SubmittersRCV000518000 RCV001835834 RCV002527517
NM_014363.6(SACS):c.4232T>G (p.Leu1411Ter)	SNV Germline	Chr13:23339644	Pathogenic	Condition: not provided Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Multiple Submitters No Conflicts	CA387531824	rs_867249938	5 SubmittersRCV000521561 RCV000984213 RCV001064306
NM_014363.6(SACS):c.1607C>T (p.Pro536Leu)	SNV Germline	Chr13:23355005	Conflicting classifications of pathogenicity	Condition: not provided Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Conflicting Classifications	CA387547599	rs_1440541889	6 SubmittersRCV000523535 RCV000674260 RCV001851489
NM_014363.6(SACS):c.623G>T (p.Ser208Ile)	SNV Germline	Chr13:23355989	Conflicting classifications of pathogenicity	Condition: not provided Charlevoix-Saguenay spastic ataxia Spastic paraplegia not specified	Criteria Provided Conflicting Classifications	CA246678645	rs_911764681	5 SubmittersRCV000522663 RCV000674847 RCV001224412 RCV003323587
NM_014363.6(SACS):c.110G>A (p.Arg37His)	SNV Germline	Chr13:23375180	Conflicting classifications of pathogenicity	Condition: not provided Spastic paraplegia Charlevoix-Saguenay spastic ataxia Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA387554542	rs_866539724	5 SubmittersRCV000522808 RCV002525178 RCV001834696 RCV004023576
NM_006612.6(KIF1C):c.1346A>G (p.Lys449Arg)	SNV Germline	Chr17:5007273	Conflicting classifications of pathogenicity	Condition: not provided Spastic ataxia 2 Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA8318947	rs_142046798	7 SubmittersRCV000521926 RCV001321550 RCV001848914
NM_006612.6(KIF1C):c.2920G>A (p.Asp974Asn)	SNV Germline	Chr17:5023759	Conflicting classifications of pathogenicity	Condition: not provided Spastic ataxia 2 Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA8319435	rs_550136320	7 SubmittersRCV000523662 RCV001350123 RCV001848915
NM_016035.5(COQ4):c.370G>A (p.Gly124Ser)	SNV Germline	Chr9:128325849	Pathogenic	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome Spastic ataxia 10, autosomal recessive	Criteria Provided Multiple Submitters No Conflicts	CA5260532	rs_776825296	3 SubmittersRCV000543798 RCV003482287
NM_014363.6(SACS):c.12813T>G (p.Pro4271=)	SNV Germline	Chr13:23331063	Conflicting classifications of pathogenicity	not specified Charlevoix-Saguenay spastic ataxia Condition: not provided Spastic paraplegia Hereditary spastic paraplegia SACS-related disorder	Criteria Provided Conflicting Classifications	CA6910078	rs_146376949	11 SubmittersRCV000712961 RCV001114727 RCV001529134 RCV001081835 RCV001848920 RCV003905340
NM_014363.6(SACS):c.10939G>T (p.Glu3647Ter)	SNV Germline	Chr13:23332937	Pathogenic/Likely pathogenic	Spastic paraplegia Condition: not provided Charlevoix-Saguenay spastic ataxia	Criteria Provided Multiple Submitters No Conflicts	CA387511088	rs_1156566314	3 SubmittersRCV000549870 RCV003482277 RCV004568750
NM_014363.6(SACS):c.4744G>A (p.Asp1582Asn)	SNV Germline	Chr13:23339132	Pathogenic/Likely pathogenic	Spastic paraplegia Charlevoix-Saguenay spastic ataxia Hereditary spastic paraplegia	Criteria Provided Multiple Submitters No Conflicts	CA387527870	rs_1160357920	8 SubmittersRCV000536906 RCV000578242 RCV001848923
NM_014363.6(SACS):c.2853C>A (p.His951Gln)	SNV Germline	Chr13:23341023	Conflicting classifications of pathogenicity	Spastic paraplegia Charlevoix-Saguenay spastic ataxia Condition: not provided	Criteria Provided Conflicting Classifications	CA6911606	rs_200644511	3 SubmittersRCV000558806 RCV001835846 RCV002473048
NM_014363.6(SACS):c.2234G>A (p.Arg745His)	SNV Germline	Chr13:23341642	Conflicting classifications of pathogenicity	Condition: not provided Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Conflicting Classifications	CA6911721	rs_143677534	6 SubmittersRCV000555876 RCV001271968 RCV001088901
NM_014363.6(SACS):c.11717C>T (p.Ala3906Val)	SNV Germline	Chr13:23332159	Conflicting classifications of pathogenicity	Spastic paraplegia Charlevoix-Saguenay spastic ataxia Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6910234	rs_375961779	4 SubmittersRCV000538311 RCV001835845 RCV002473047 RCV002527683
NM_014363.6(SACS):c.9399A>G (p.Lys3133=)	SNV Germline	Chr13:23334477	Conflicting classifications of pathogenicity	Spastic paraplegia Charlevoix-Saguenay spastic ataxia Condition: not provided Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA6910625	rs_762665640	4 SubmittersRCV000546063 RCV001274923 RCV003403262 RCV001848925
NM_014363.6(SACS):c.8693G>A (p.Arg2898His)	SNV Germline	Chr13:23335183	Conflicting classifications of pathogenicity	Spastic paraplegia Charlevoix-Saguenay spastic ataxia Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6910731	rs_201977288	3 SubmittersRCV000530318 RCV001274928 RCV002525291
NM_014363.6(SACS):c.6593T>C (p.Ile2198Thr)	SNV Germline	Chr13:23337283	Conflicting classifications of pathogenicity	Spastic paraplegia Charlevoix-Saguenay spastic ataxia Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6911056	rs_754906806	3 SubmittersRCV000532956 RCV001834758 RCV004023781
NM_014363.6(SACS):c.2551G>T (p.Val851Phe)	SNV Germline	Chr13:23341325	Conflicting classifications of pathogenicity	Spastic paraplegia Charlevoix-Saguenay spastic ataxia Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA6911670	rs_756890722	3 SubmittersRCV000545527 RCV001834757 RCV001848921
NM_014363.6(SACS):c.6640C>T (p.Arg2214Cys)	SNV Germline	Chr13:23337236	Conflicting classifications of pathogenicity	Spastic paraplegia Charlevoix-Saguenay spastic ataxia Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA6911049	rs_138379074	6 SubmittersRCV000538701 RCV000765122 RCV002528313 RCV003482278
NM_014363.6(SACS):c.3282C>T (p.Asn1094=)	SNV Germline	Chr13:23340594	Conflicting classifications of pathogenicity	Spastic paraplegia Charlevoix-Saguenay spastic ataxia Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA6911545	rs_145499245	4 SubmittersRCV000537247 RCV001109612 RCV001848922
NM_006612.6(KIF1C):c.1136C>G (p.Ala379Gly)	SNV Germline	Chr17:5004971	Conflicting classifications of pathogenicity	Spastic ataxia 2 Hereditary spastic paraplegia Condition: not provided	Criteria Provided Conflicting Classifications	CA8318875	rs_79290524	3 SubmittersRCV000553957 RCV001848958 RCV002292564
NM_006612.6(KIF1C):c.18G>A (p.Val6=)	SNV Germline	Chr17:5000264	Conflicting classifications of pathogenicity	Condition: not provided Spastic ataxia 2 Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA8318421	rs_148361794	4 SubmittersRCV000827041 RCV001078969 RCV001848960
NM_006612.6(KIF1C):c.499C>T (p.Arg167Trp)	SNV Germline	Chr17:5002533	Conflicting classifications of pathogenicity	Spastic ataxia 2	Criteria Provided Conflicting Classifications	CA8318586	rs_185479618	2 SubmittersRCV000540072
NM_014363.6(SACS):c.13615C>T (p.Pro4539Ser)	SNV Germline	Chr13:23330261	Likely pathogenic	Condition: not provided Charlevoix-Saguenay spastic ataxia	Criteria Provided Multiple Submitters No Conflicts	CA387504864	rs_1555249106	2 SubmittersRCV000593641 RCV003465330
NM_014363.6(SACS):c.10668G>A (p.Leu3556=)	SNV Germline	Chr13:23333208	Conflicting classifications of pathogenicity	Spastic paraplegia Condition: not provided Charlevoix-Saguenay spastic ataxia	Criteria Provided Conflicting Classifications	CA6910414	rs_139517699	6 SubmittersRCV001086031 RCV000676351 RCV001783099
NM_014363.6(SACS):c.8142G>A (p.Ser2714=)	SNV Germline	Chr13:23335734	Conflicting classifications of pathogenicity	Condition: not provided Spastic paraplegia Charlevoix-Saguenay spastic ataxia	Criteria Provided Conflicting Classifications	CA6910815	rs_530250252	3 SubmittersRCV000598079 RCV001468357 RCV001783101
NM_014363.6(SACS):c.13027G>A (p.Glu4343Lys)	SNV Germline	Chr13:23330849	Conflicting classifications of pathogenicity	Condition: not provided Charlevoix-Saguenay spastic ataxia not specified Spastic paraplegia	Criteria Provided Conflicting Classifications	CA6910035	rs_749383532	7 SubmittersRCV000593745 RCV000671806 RCV002232237 RCV002532677
NM_014363.6(SACS):c.814C>T (p.Arg272Cys)	SNV Germline	Chr13:23355798	Pathogenic/Likely pathogenic	Charlevoix-Saguenay spastic ataxia Hereditary ataxia Spastic paraplegia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA246678438	rs_374128662	8 SubmittersRCV000612398 RCV000824757 RCV001380372 RCV001591363
NM_006612.6(KIF1C):c.996C>T (p.Tyr332=)	SNV Germline	Chr17:5004622	Conflicting classifications of pathogenicity	not specified Condition: not provided Spastic ataxia 2	Criteria Provided Conflicting Classifications	CA8318825	rs_143283587	3 SubmittersRCV000601473 RCV000915985 RCV001452482
NM_006612.6(KIF1C):c.2109G>A (p.Thr703=)	SNV Germline	Chr17:5022190	Conflicting classifications of pathogenicity	not specified Spastic ataxia 2	Criteria Provided Conflicting Classifications	CA8319220	rs_372267137	2 SubmittersRCV000602782 RCV001855215
NM_014363.6(SACS):c.9723G>C (p.Glu3241Asp)	SNV Germline	Chr13:23334153	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia Inborn genetic diseases Spastic paraplegia	Criteria Provided Conflicting Classifications	CA6910575	rs_772595501	3 SubmittersRCV000625697 RCV004025286 RCV002531924
NM_014363.6(SACS):c.8579A>G (p.Asn2860Ser)	SNV Germline	Chr13:23335297	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia Spastic paraplegia Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA6910745	rs_201294520	4 SubmittersRCV000625698 RCV001439415 RCV001848999
NM_014363.6(SACS):c.10813A>T (p.Lys3605Ter)	SNV Germline	Chr13:23333063	Pathogenic	Charlevoix-Saguenay spastic ataxia	Criteria Provided Multiple Submitters No Conflicts	CA387511366	rs_1360298758	3 SubmittersRCV000625786
NM_014363.6(SACS):c.4585C>T (p.Gln1529Ter)	SNV Germline	Chr13:23339291	Pathogenic	Charlevoix-Saguenay spastic ataxia	Criteria Provided Single Submitter	CA387528407	rs_1555252345	1 SubmittersRCV000625765
NM_014363.6(SACS):c.1672C>T (p.Gln558Ter)	SNV Germline	Chr13:23354940	Pathogenic/Likely pathogenic	Condition: not provided Spastic paraplegia Charlevoix-Saguenay spastic ataxia Hereditary spastic paraplegia	Criteria Provided Multiple Submitters No Conflicts	CA387547285	rs_923921184	4 SubmittersRCV000627327 RCV001065954 RCV001785684 RCV001849000
NM_014363.6(SACS):c.83C>T (p.Ser28Phe)	SNV Germline	Chr13:23375207	Conflicting classifications of pathogenicity	Spastic paraplegia Inborn genetic diseases Charlevoix-Saguenay spastic ataxia	Criteria Provided Conflicting Classifications	CA387554637	rs_1365453773	3 SubmittersRCV000633012 RCV002529815 RCV001835012
NM_014363.6(SACS):c.12762C>T (p.Ser4254=)	SNV Germline	Chr13:23331114	Conflicting classifications of pathogenicity	Spastic paraplegia Charlevoix-Saguenay spastic ataxia not specified Condition: not provided Hereditary spastic paraplegia SACS-related disorder	Criteria Provided Conflicting Classifications	CA6910094	rs_11554397	10 SubmittersRCV000633091 RCV001114730 RCV001288701 RCV001571934 RCV001849009 RCV003935763
NM_014363.6(SACS):c.10305T>C (p.Ser3435=)	SNV Germline	Chr13:23333571	Conflicting classifications of pathogenicity	Spastic paraplegia Charlevoix-Saguenay spastic ataxia not specified Condition: not provided Hereditary spastic paraplegia SACS-related disorder	Criteria Provided Conflicting Classifications	CA6910469	rs_35670472	10 SubmittersRCV000633092 RCV001109204 RCV001288369 RCV001558026 RCV001849010 RCV003935764
NM_014363.6(SACS):c.972C>A (p.Asp324Glu)	SNV Germline	Chr13:23355640	Conflicting classifications of pathogenicity	Condition: not provided Spastic paraplegia Charlevoix-Saguenay spastic ataxia SACS-related disorder	Criteria Provided Conflicting Classifications	CA6911995	rs_546652936	5 SubmittersRCV000676374 RCV001083526 RCV001112022 RCV003935762
NM_014363.6(SACS):c.4757A>G (p.Asn1586Ser)	SNV Germline	Chr13:23339119	Conflicting classifications of pathogenicity	Spastic paraplegia Charlevoix-Saguenay spastic ataxia Condition: not provided Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA6911347	rs_201558584	7 SubmittersRCV000633040 RCV001111812 RCV001508703 RCV001849005
NM_014363.6(SACS):c.1791A>T (p.Ser597=)	SNV Germline	Chr13:23354821	Conflicting classifications of pathogenicity	Spastic paraplegia Charlevoix-Saguenay spastic ataxia SACS-related disorder	Criteria Provided Conflicting Classifications	CA6911850	rs_371175405	4 SubmittersRCV000633109 RCV001113727 RCV003935765
NM_006612.6(KIF1C):c.339A>G (p.Pro113=)	SNV Germline	Chr17:5001377	Conflicting classifications of pathogenicity	Spastic ataxia 2 Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA8318508	rs_142773987	2 SubmittersRCV000645369 RCV001849025
NM_006005.3(WFS1):c.1181A>T (p.Glu394Val)	SNV Germline	Chr4:6300976	Conflicting classifications of pathogenicity	Condition: not provided Spastic ataxia	Criteria Provided Conflicting Classifications		rs_146563951	4 SubmittersRCV000657864 RCV001644744
NM_006796.3(AFG3L2):c.1385C>T (p.Ala462Val)	SNV Germline	Chr18:12351347	Conflicting classifications of pathogenicity	Optic atrophy 12 Optic atrophy Condition: not provided Spastic ataxia 5	Criteria Provided Conflicting Classifications		rs_912546325	4 SubmittersRCV001253811 RCV001249473 RCV000658802 RCV001253812
NM_014363.6(SACS):c.13276C>T (p.Gln4426Ter)	SNV Germline	Chr13:23330600	Pathogenic/Likely pathogenic	Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Multiple Submitters No Conflicts		rs_1555249276	2 SubmittersRCV000673080 RCV003750816
NM_014363.6(SACS):c.12622C>T (p.Gln4208Ter)	SNV Germline	Chr13:23331254	Pathogenic/Likely pathogenic	Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Multiple Submitters No Conflicts		rs_1555249555	3 SubmittersRCV000668994 RCV001232544
NM_014363.6(SACS):c.8727G>A (p.Trp2909Ter)	SNV Germline	Chr13:23335149	Pathogenic/Likely pathogenic	Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Multiple Submitters No Conflicts		rs_1555250949	2 SubmittersRCV000667371 RCV001855479
NM_014363.6(SACS):c.7110C>A (p.Tyr2370Ter)	SNV Unknown	Chr13:23336766	Likely pathogenic	Charlevoix-Saguenay spastic ataxia	Criteria Provided Single Submitter		rs_1555251553	1 SubmittersRCV000674868
NM_014363.6(SACS):c.6409C>T (p.Gln2137Ter)	SNV Unknown	Chr13:23337467	Likely pathogenic	Charlevoix-Saguenay spastic ataxia	Criteria Provided Single Submitter		rs_201690040	1 SubmittersRCV000666608
NM_014363.6(SACS):c.6130C>T (p.Gln2044Ter)	SNV Unknown	Chr13:23337746	Likely pathogenic	Charlevoix-Saguenay spastic ataxia	Criteria Provided Single Submitter		rs_1408290451	1 SubmittersRCV000673160
NM_014363.6(SACS):c.3674T>G (p.Leu1225Ter)	SNV Unknown	Chr13:23340202	Likely pathogenic	Charlevoix-Saguenay spastic ataxia	Criteria Provided Single Submitter		rs_959856535	1 SubmittersRCV000668407
NM_014363.6(SACS):c.3457A>T (p.Lys1153Ter)	SNV Unknown	Chr13:23340419	Likely pathogenic	Charlevoix-Saguenay spastic ataxia	Criteria Provided Single Submitter		rs_1555252634	1 SubmittersRCV000670862
NM_014363.6(SACS):c.961C>T (p.Arg321Ter)	SNV Germline	Chr13:23355651	Pathogenic	Charlevoix-Saguenay spastic ataxia Condition: not provided Spastic paraplegia	Criteria Provided Multiple Submitters No Conflicts		rs_1175545518	7 SubmittersRCV000671337 RCV001090243 RCV001868253
NM_014363.6(SACS):c.2T>C (p.Met1Thr)	SNV Unknown	Chr13:23411238	Likely pathogenic	Charlevoix-Saguenay spastic ataxia	Criteria Provided Single Submitter		rs_1417057515	1 SubmittersRCV000666635
NM_014363.6(SACS):c.12323C>G (p.Ser4108Ter)	SNV Unknown	Chr13:23331553	Likely pathogenic	Charlevoix-Saguenay spastic ataxia	Criteria Provided Single Submitter		rs_1555249633	1 SubmittersRCV000671025
NM_014363.6(SACS):c.11935G>T (p.Glu3979Ter)	SNV Unknown	Chr13:23331941	Likely pathogenic	Charlevoix-Saguenay spastic ataxia	Criteria Provided Single Submitter		rs_1555249745	1 SubmittersRCV000674023
NM_014363.6(SACS):c.11179C>T (p.Gln3727Ter)	SNV Unknown	Chr13:23332697	Likely pathogenic	Charlevoix-Saguenay spastic ataxia	Criteria Provided Single Submitter		rs_1555249966	1 SubmittersRCV000666271
NM_014363.6(SACS):c.8108G>A (p.Arg2703His)	SNV Germline	Chr13:23335768	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia Condition: not provided Spastic paraplegia	Criteria Provided Conflicting Classifications		rs_750181262	6 SubmittersRCV000668456 RCV001576889 RCV001868222
NM_014363.6(SACS):c.3901C>T (p.Gln1301Ter)	SNV Unknown	Chr13:23339975	Likely pathogenic	Charlevoix-Saguenay spastic ataxia	Criteria Provided Single Submitter		rs_1555252531	1 SubmittersRCV000667332
NM_014363.6(SACS):c.2863A>T (p.Lys955Ter)	SNV Unknown	Chr13:23341013	Likely pathogenic	Charlevoix-Saguenay spastic ataxia	Criteria Provided Single Submitter		rs_1555252786	1 SubmittersRCV000667512
NM_014363.6(SACS):c.2533C>T (p.Gln845Ter)	SNV Unknown	Chr13:23341343	Likely pathogenic	Charlevoix-Saguenay spastic ataxia	Criteria Provided Multiple Submitters No Conflicts		rs_1555252876	2 SubmittersRCV000664830
NM_014363.6(SACS):c.13405G>C (p.Ala4469Pro)	SNV Unknown	Chr13:23330471	Likely pathogenic	Charlevoix-Saguenay spastic ataxia	Criteria Provided Single Submitter		rs_745961541	1 SubmittersRCV000672222
NM_014363.6(SACS):c.2434C>T (p.Gln812Ter)	SNV Unknown	Chr13:23341442	Likely pathogenic	Charlevoix-Saguenay spastic ataxia	Criteria Provided Single Submitter		rs_1555252929	1 SubmittersRCV000674140
NM_014363.6(SACS):c.815G>A (p.Arg272His)	SNV Germline	Chr13:23355797	Pathogenic/Likely pathogenic	Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Multiple Submitters No Conflicts		rs_745907077	3 SubmittersRCV000670029 RCV001855535
NM_014363.6(SACS):c.13284C>A (p.Tyr4428Ter)	SNV Unknown	Chr13:23330592	Likely pathogenic	Charlevoix-Saguenay spastic ataxia	Criteria Provided Single Submitter		rs_753277514	1 SubmittersRCV000670810
NM_014363.6(SACS):c.605-1G>A	SNV Unknown	Chr13:23356008	Likely pathogenic	Charlevoix-Saguenay spastic ataxia	Criteria Provided Single Submitter		rs_1555254489	1 SubmittersRCV000668193
NM_014363.6(SACS):c.11509C>T (p.Gln3837Ter)	SNV Unknown	Chr13:23332367	Likely pathogenic	Charlevoix-Saguenay spastic ataxia	Criteria Provided Single Submitter		rs_1555249881	1 SubmittersRCV000669284
NM_014363.6(SACS):c.8029C>T (p.Gln2677Ter)	SNV Unknown	Chr13:23335847	Likely pathogenic	Charlevoix-Saguenay spastic ataxia	Criteria Provided Single Submitter		rs_1555251241	1 SubmittersRCV000667379
NM_014363.6(SACS):c.7527T>G (p.Tyr2509Ter)	SNV Unknown	Chr13:23336349	Likely pathogenic	Charlevoix-Saguenay spastic ataxia	Criteria Provided Single Submitter		rs_140034972	1 SubmittersRCV000665439
NM_014363.6(SACS):c.6355C>T (p.Arg2119Ter)	SNV Germline	Chr13:23337521	Pathogenic	Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Multiple Submitters No Conflicts		rs_766711286	7 SubmittersRCV000672257 RCV001387162
NM_014363.6(SACS):c.6052A>T (p.Lys2018Ter)	SNV Unknown	Chr13:23337824	Likely pathogenic	Charlevoix-Saguenay spastic ataxia	Criteria Provided Single Submitter		rs_1555251944	1 SubmittersRCV000673402
NM_014363.6(SACS):c.5414C>G (p.Ser1805Ter)	SNV Unknown	Chr13:23338462	Likely pathogenic	Charlevoix-Saguenay spastic ataxia	Criteria Provided Single Submitter		rs_1555252113	1 SubmittersRCV000664891
NM_014363.6(SACS):c.5281C>T (p.Gln1761Ter)	SNV Unknown	Chr13:23338595	Likely pathogenic	Charlevoix-Saguenay spastic ataxia	Criteria Provided Single Submitter		rs_1555252142	1 SubmittersRCV000671001
NM_014363.6(SACS):c.5075C>A (p.Ser1692Ter)	SNV Germline	Chr13:23338801	Pathogenic/Likely pathogenic	Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Multiple Submitters No Conflicts		rs_1555252184	2 SubmittersRCV000667425 RCV003767955
NM_014363.6(SACS):c.5010T>G (p.Tyr1670Ter)	SNV Unknown	Chr13:23338866	Likely pathogenic	Charlevoix-Saguenay spastic ataxia	Criteria Provided Single Submitter		rs_1459899547	1 SubmittersRCV000672847
NM_014363.6(SACS):c.2186-4A>G	SNV Germline	Chr13:23341694	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Conflicting Classifications		rs_371866995	3 SubmittersRCV000664864 RCV001512029
NM_014363.6(SACS):c.604+1G>A	SNV Germline	Chr13:23358334	Likely pathogenic	Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Multiple Submitters No Conflicts		rs_1555254734	2 SubmittersRCV000666450 RCV003750811
NM_014363.6(SACS):c.10087A>T (p.Lys3363Ter)	SNV Unknown	Chr13:23333789	Likely pathogenic	Charlevoix-Saguenay spastic ataxia	Criteria Provided Single Submitter		rs_1555250359	1 SubmittersRCV000673894
NM_014363.6(SACS):c.8480C>A (p.Ser2827Ter)	SNV Unknown	Chr13:23335396	Likely pathogenic	Charlevoix-Saguenay spastic ataxia	Criteria Provided Single Submitter		rs_1555251015	1 SubmittersRCV000667851
NM_014363.6(SACS):c.8377C>T (p.Gln2793Ter)	SNV Germline	Chr13:23335499	Pathogenic/Likely pathogenic	Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Multiple Submitters No Conflicts		rs_1240368715	2 SubmittersRCV000674504 RCV002532164
NM_014363.6(SACS):c.6919G>T (p.Gly2307Ter)	SNV Unknown	Chr13:23336957	Likely pathogenic	Charlevoix-Saguenay spastic ataxia	Criteria Provided Single Submitter		rs_1555251615	1 SubmittersRCV000668288
NM_014363.6(SACS):c.5719C>T (p.Arg1907Ter)	SNV Germline	Chr13:23338157	Pathogenic	Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Multiple Submitters No Conflicts		rs_1485209013	5 SubmittersRCV000672553 RCV002532128
NM_014363.6(SACS):c.3427C>T (p.Gln1143Ter)	SNV Germline	Chr13:23340449	Pathogenic/Likely pathogenic	Charlevoix-Saguenay spastic ataxia	Criteria Provided Multiple Submitters No Conflicts		rs_144267558	3 SubmittersRCV000670813
NM_014363.6(SACS):c.2564T>G (p.Leu855Ter)	SNV Unknown	Chr13:23341312	Likely pathogenic	Charlevoix-Saguenay spastic ataxia	Criteria Provided Single Submitter		rs_142037771	1 SubmittersRCV000669728
NM_014363.6(SACS):c.2287C>T (p.Gln763Ter)	SNV Unknown	Chr13:23341589	Likely pathogenic	Charlevoix-Saguenay spastic ataxia	Criteria Provided Single Submitter		rs_1555252953	1 SubmittersRCV000671096
NM_014363.6(SACS):c.1004C>T (p.Ser335Leu)	SNV Germline	Chr13:23355608	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia Hereditary spastic paraplegia Spastic paraplegia	Criteria Provided Conflicting Classifications		rs_767435985	4 SubmittersRCV000673666 RCV001849042 RCV002060828
NM_014363.6(SACS):c.832C>T (p.Gln278Ter)	SNV Germline	Chr13:23355780	Pathogenic/Likely pathogenic	Charlevoix-Saguenay spastic ataxia	Criteria Provided Multiple Submitters No Conflicts		rs_1555254439	2 SubmittersRCV000666383
NM_014363.6(SACS):c.3506G>C (p.Gly1169Ala)	SNV Germline	Chr13:23340370	Conflicting classifications of pathogenicity	Condition: not provided Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Conflicting Classifications		rs_1443000762	4 SubmittersRCV000676367 RCV001830473 RCV002531379
NM_014363.6(SACS):c.1906C>T (p.Arg636Trp)	SNV Germline	Chr13:23354706	Conflicting classifications of pathogenicity	Condition: not provided Spastic paraplegia Charlevoix-Saguenay spastic ataxia	Criteria Provided Conflicting Classifications		rs_201752905	4 SubmittersRCV000676369 RCV001049324 RCV001113725
NM_014363.6(SACS):c.262C>T (p.Arg88Ter)	SNV Germline	Chr13:23368485	Pathogenic	Charcot-Marie-Tooth disease X-linked dominant 1 Spastic paraplegia Condition: not provided Charlevoix-Saguenay spastic ataxia	Criteria Provided Multiple Submitters No Conflicts		rs_1555255676	4 SubmittersRCV002305528 RCV002544685 RCV001816685 RCV000677658
NM_014363.6(SACS):c.7100C>T (p.Ala2367Val)	SNV Germline	Chr13:23336776	Conflicting classifications of pathogenicity	Spastic paraplegia Charlevoix-Saguenay spastic ataxia Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_752273313	3 SubmittersRCV000690739 RCV001275189 RCV002547157
NM_014363.6(SACS):c.2776A>G (p.Ile926Val)	SNV Germline	Chr13:23341100	Conflicting classifications of pathogenicity	Condition: not provided Charlevoix-Saguenay spastic ataxia Spastic paraplegia Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications		rs_144362131	7 SubmittersRCV000712972 RCV001111915 RCV001257223 RCV001849073
NM_014363.6(SACS):c.9551G>A (p.Arg3184His)	SNV Germline	Chr13:23334325	Conflicting classifications of pathogenicity	Spastic paraplegia Charlevoix-Saguenay spastic ataxia Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications		rs_200453385	3 SubmittersRCV000689777 RCV001829908 RCV001849054
NM_014363.6(SACS):c.13106A>G (p.Asp4369Gly)	SNV Germline	Chr13:23330770	Conflicting classifications of pathogenicity	Spastic paraplegia Charlevoix-Saguenay spastic ataxia Condition: not provided	Criteria Provided Conflicting Classifications		rs_770895110	3 SubmittersRCV000688293 RCV001830494 RCV002272330
NM_014363.6(SACS):c.11327T>C (p.Ile3776Thr)	SNV Germline	Chr13:23332549	Conflicting classifications of pathogenicity	Spastic paraplegia Charlevoix-Saguenay spastic ataxia	Criteria Provided Conflicting Classifications		rs_145188410	5 SubmittersRCV000698539 RCV001111442
NM_014363.6(SACS):c.2294A>G (p.Tyr765Cys)	SNV Germline	Chr13:23341582	Conflicting classifications of pathogenicity	Spastic paraplegia Charlevoix-Saguenay spastic ataxia Condition: not provided	Criteria Provided Conflicting Classifications		rs_141553858	4 SubmittersRCV000688531 RCV001784312 RCV001756169
NM_006612.6(KIF1C):c.682C>T (p.Arg228Cys)	SNV Germline	Chr17:5002804	Conflicting classifications of pathogenicity	Spastic ataxia 2 Microcephaly Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_141189136	3 SubmittersRCV000687046 RCV001252794 RCV003258918
NM_014363.6(SACS):c.2492A>G (p.Glu831Gly)	SNV Germline	Chr13:23341384	Conflicting classifications of pathogenicity	Spastic paraplegia Charlevoix-Saguenay spastic ataxia Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_375968367	4 SubmittersRCV000700961 RCV001271967 RCV002473121 RCV002533606
NM_014363.6(SACS):c.1562G>C (p.Ser521Thr)	SNV Germline	Chr13:23355050	Conflicting classifications of pathogenicity	Spastic paraplegia Charlevoix-Saguenay spastic ataxia Condition: not provided SACS-related disorder	Criteria Provided Conflicting Classifications		rs_190617851	6 SubmittersRCV000697081 RCV001271970 RCV001756213 RCV003953240
NM_001378452.1(ITPR1):c.2683A>G (p.Ile895Val)	SNV Germline	Chr3:4675152	Conflicting classifications of pathogenicity	Condition: not provided Spastic ataxia	Criteria Provided Conflicting Classifications		rs_750473506	3 SubmittersRCV000712017 RCV001644777
NM_014363.6(SACS):c.12260A>G (p.Tyr4087Cys)	SNV Germline	Chr13:23331616	Conflicting classifications of pathogenicity	Condition: not provided Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Conflicting Classifications		rs_373478772	3 SubmittersRCV000712960 RCV001274917 RCV002532942
NM_014363.6(SACS):c.12148T>C (p.Phe4050Leu)	SNV Germline	Chr13:23331728	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia Spastic paraplegia not specified Condition: not provided	Criteria Provided Conflicting Classifications		rs_147013767	4 SubmittersRCV001274918 RCV001049336 RCV001644778 RCV003480803
NM_014363.6(SACS):c.11380G>T (p.Val3794Phe)	SNV Germline	Chr13:23332496	Conflicting classifications of pathogenicity	Condition: not provided Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Conflicting Classifications		rs_753844954	3 SubmittersRCV000712957 RCV001825423 RCV002532941
NM_014363.6(SACS):c.11161G>A (p.Gly3721Ser)	SNV Germline	Chr13:23332715	Conflicting classifications of pathogenicity	Condition: not provided Charlevoix-Saguenay spastic ataxia Inborn genetic diseases Spastic paraplegia	Criteria Provided Conflicting Classifications		rs_780789569	4 SubmittersRCV000712956 RCV001830583 RCV002534513 RCV003750819
NM_014363.6(SACS):c.10181A>G (p.Asn3394Ser)	SNV Germline	Chr13:23333695	Conflicting classifications of pathogenicity	Condition: not provided Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Conflicting Classifications		rs_375898103	4 SubmittersRCV000712954 RCV001273195 RCV001491310
NM_014363.6(SACS):c.9680A>C (p.Lys3227Thr)	SNV Germline	Chr13:23334196	Conflicting classifications of pathogenicity	Condition: not provided Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Conflicting Classifications		rs_765635417	3 SubmittersRCV000712995 RCV001825427 RCV002532946
NM_014363.6(SACS):c.9562T>C (p.Phe3188Leu)	SNV Germline	Chr13:23334314	Conflicting classifications of pathogenicity	Condition: not provided Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Conflicting Classifications		rs_137905181	6 SubmittersRCV000712994 RCV000765118 RCV001034278
NM_014363.6(SACS):c.8539C>G (p.Leu2847Val)	SNV Germline	Chr13:23335337	Conflicting classifications of pathogenicity	Condition: not provided Spastic paraplegia Charlevoix-Saguenay spastic ataxia	Criteria Provided Conflicting Classifications		rs_760976439	4 SubmittersRCV000712992 RCV000800081 RCV001276935
NM_014363.6(SACS):c.7282A>G (p.Ile2428Val)	SNV Germline	Chr13:23336594	Conflicting classifications of pathogenicity	Condition: not provided Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Conflicting Classifications		rs_1007936574	6 SubmittersRCV000712989 RCV001784353 RCV002534516
NM_014363.6(SACS):c.6178G>C (p.Val2060Leu)	SNV Germline	Chr13:23337698	Conflicting classifications of pathogenicity	Condition: not provided Charlevoix-Saguenay spastic ataxia Inborn genetic diseases Spastic paraplegia	Criteria Provided Conflicting Classifications		rs_373226693	4 SubmittersRCV000712980 RCV001830584 RCV002534514 RCV002534515
NM_014363.6(SACS):c.5744A>G (p.His1915Arg)	SNV Germline	Chr13:23338132	Conflicting classifications of pathogenicity	Condition: not provided Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Conflicting Classifications		rs_144822691	7 SubmittersRCV000712979 RCV000765123 RCV001245813
NM_014363.6(SACS):c.3017A>G (p.His1006Arg)	SNV Germline	Chr13:23340859	Conflicting classifications of pathogenicity	Condition: not provided Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Conflicting Classifications		rs_368149368	3 SubmittersRCV000712973 RCV001271966 RCV002532945
NM_014363.6(SACS):c.2580A>G (p.Gln860=)	SNV Germline	Chr13:23341296	Conflicting classifications of pathogenicity	Condition: not provided Charlevoix-Saguenay spastic ataxia Spastic paraplegia Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications		rs_41283958	10 SubmittersRCV000712969 RCV000765125 RCV001087176 RCV001849072
NM_014363.6(SACS):c.2024A>G (p.Asn675Ser)	SNV Germline	Chr13:23354588	Conflicting classifications of pathogenicity	Condition: not provided Spastic paraplegia Charlevoix-Saguenay spastic ataxia	Criteria Provided Conflicting Classifications		rs_146395198	4 SubmittersRCV000712965 RCV001244618 RCV001784352
NM_014363.6(SACS):c.1846G>C (p.Ala616Pro)	SNV Germline	Chr13:23354766	Conflicting classifications of pathogenicity	Condition: not provided Spastic paraplegia Charlevoix-Saguenay spastic ataxia	Criteria Provided Conflicting Classifications		rs_200437752	4 SubmittersRCV000712964 RCV000812548 RCV001784351
NM_014363.6(SACS):c.247T>C (p.Leu83=)	SNV Germline	Chr13:23371090	Conflicting classifications of pathogenicity	Condition: not provided Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Conflicting Classifications		rs_1470292816	3 SubmittersRCV000712968 RCV001825424 RCV003750820
NM_001127222.2(CACNA1A):c.4997G>A (p.Arg1666Gln)	SNV Germline	Chr19:13235684	Conflicting classifications of pathogenicity	Condition: not provided Spastic ataxia	Criteria Provided Conflicting Classifications		rs_1568447650	4 SubmittersRCV000710963 RCV000855537
NM_014363.6(SACS):c.4103G>T (p.Ser1368Ile)	SNV Unknown	Chr13:23339773	Pathogenic	Charlevoix-Saguenay spastic ataxia	Criteria Provided Single Submitter		rs_1566069517	1 SubmittersRCV000761546
NM_014363.6(SACS):c.11066C>A (p.Pro3689Gln)	SNV Germline	Chr13:23332810	Conflicting classifications of pathogenicity	Condition: not provided Charlevoix-Saguenay spastic ataxia Spastic paraplegia Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications		rs_148925505	7 SubmittersRCV000761851 RCV001111443 RCV001241078 RCV001849092
NM_177400.3(NKX6-2):c.608G>A (p.Trp203Ter)	SNV Germline	Chr10:132785142	Likely pathogenic	Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy	Criteria Provided Single Submitter		rs_1565019928	3 SubmittersRCV000770994
NM_177400.3(NKX6-2):c.599G>A (p.Arg200Gln)	SNV Germline	Chr10:132785151	Pathogenic	Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy	Criteria Provided Single Submitter		rs_1008088032	4 SubmittersRCV000770992
NM_177400.3(NKX6-2):c.589C>T (p.Gln197Ter)	SNV Germline	Chr10:132785161	Likely pathogenic	Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy Condition: not provided	Criteria Provided Single Submitter		rs_1565019976	4 SubmittersRCV000770991 RCV003558575
NM_177400.3(NKX6-2):c.565G>T (p.Glu189Ter)	SNV Germline	Chr10:132785294	Pathogenic	Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy	No Assertion Criteria Provided		rs_776560015	3 SubmittersRCV000770990
NM_016955.4(SEPSECS):c.1393C>T (p.Arg465Ter)	SNV Germline	Chr4:25124044	Conflicting classifications of pathogenicity	Pontocerebellar hypoplasia type 2D Spastic ataxia not specified Condition: not provided	Criteria Provided Conflicting Classifications		rs_773969315	4 SubmittersRCV000779439 RCV001644813 RCV002298768 RCV002535655
NM_014363.6(SACS):c.9670C>T (p.Arg3224Ter)	SNV Germline	Chr13:23334206	Pathogenic/Likely pathogenic	Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Multiple Submitters No Conflicts		rs_751568153	2 SubmittersRCV000781830 RCV003750821
NM_016035.5(COQ4):c.284G>A (p.Gly95Asp)	SNV Germline	Chr9:128325224	Conflicting classifications of pathogenicity	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome Spastic ataxia	Criteria Provided Conflicting Classifications		rs_779568890	3 SubmittersRCV000792805 RCV001644823
NM_001330260.2(SCN8A):c.1790G>A (p.Arg597His)	SNV Germline	Chr12:51721700	Conflicting classifications of pathogenicity	Early infantile epileptic encephalopathy with suppression bursts Spastic ataxia	Criteria Provided Conflicting Classifications		rs_755358223	2 SubmittersRCV000797517 RCV001644826
NM_014363.6(SACS):c.10205A>G (p.Asp3402Gly)	SNV Germline	Chr13:23333671	Conflicting classifications of pathogenicity	Spastic paraplegia Charlevoix-Saguenay spastic ataxia Condition: not provided	Criteria Provided Conflicting Classifications		rs_543563990	4 SubmittersRCV000802657 RCV001274921 RCV001662833
NM_014363.6(SACS):c.6409C>G (p.Gln2137Glu)	SNV Germline	Chr13:23337467	Conflicting classifications of pathogenicity	Spastic paraplegia Charlevoix-Saguenay spastic ataxia Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_201690040	4 SubmittersRCV000804057 RCV001830740 RCV004028161
NM_014363.6(SACS):c.6349G>A (p.Glu2117Lys)	SNV Germline	Chr13:23337527	Conflicting classifications of pathogenicity	Spastic paraplegia Condition: not provided Charlevoix-Saguenay spastic ataxia	Criteria Provided Conflicting Classifications		rs_754033201	4 SubmittersRCV000805719 RCV001287906 RCV001275192
NM_014363.6(SACS):c.5368G>A (p.Ala1790Thr)	SNV Germline	Chr13:23338508	Conflicting classifications of pathogenicity	Spastic paraplegia Charlevoix-Saguenay spastic ataxia Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications		rs_147517201	3 SubmittersRCV000821085 RCV001276943 RCV001849125
NM_014363.6(SACS):c.2881C>T (p.Arg961Ter)	SNV Germline	Chr13:23340995	Pathogenic	Spastic paraplegia Charlevoix-Saguenay spastic ataxia	Criteria Provided Multiple Submitters No Conflicts		rs_1593133395	3 SubmittersRCV000793079 RCV001830692
NM_014363.6(SACS):c.1907G>A (p.Arg636Gln)	SNV Germline	Chr13:23354705	Conflicting classifications of pathogenicity	Spastic paraplegia Condition: not provided Charlevoix-Saguenay spastic ataxia	Criteria Provided Conflicting Classifications		rs_368944813	4 SubmittersRCV000819244 RCV001508706 RCV001784447
NM_014363.6(SACS):c.1061C>G (p.Thr354Ser)	SNV Germline	Chr13:23355551	Conflicting classifications of pathogenicity	Spastic paraplegia Condition: not provided Charlevoix-Saguenay spastic ataxia	Criteria Provided Conflicting Classifications		rs_1425519295	4 SubmittersRCV000821539 RCV000992770 RCV001784452
NM_014363.6(SACS):c.434C>G (p.Ser145Ter)	SNV Germline	Chr13:23365189	Pathogenic/Likely pathogenic	Spastic paraplegia Condition: not provided Charlevoix-Saguenay spastic ataxia SACS-related disorder	Criteria Provided Multiple Submitters No Conflicts		rs_994374354	7 SubmittersRCV000819151 RCV000992789 RCV001785730 RCV003396439
NM_006612.6(KIF1C):c.500G>A (p.Arg167Gln)	SNV Germline	Chr17:5002534	Conflicting classifications of pathogenicity	Spastic ataxia 2 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_199962814	3 SubmittersRCV000799939 RCV002267025 RCV003258975
NM_006005.3(WFS1):c.2531C>T (p.Ala844Val)	SNV Germline	Chr4:6302326	Conflicting classifications of pathogenicity	not specified Spastic ataxia Condition: not provided	Criteria Provided Conflicting Classifications		rs_200192011	3 SubmittersRCV000825502 RCV001644837 RCV001858398
NM_014363.6(SACS):c.6434T>A (p.Leu2145Ter)	SNV Germline	Chr13:23337442	Pathogenic	Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Multiple Submitters No Conflicts		rs_770490672	3 SubmittersRCV000850593 RCV001386982
NM_014363.6(SACS):c.8132C>T (p.Ser2711Leu)	SNV Germline	Chr13:23335744	Conflicting classifications of pathogenicity	not specified Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Conflicting Classifications		rs_1213203489	3 SubmittersRCV003387938 RCV003467533 RCV002538873
NM_014363.6(SACS):c.10980C>T (p.Pro3660=)	SNV Germline	Chr13:23332896	Conflicting classifications of pathogenicity	Spastic paraplegia Charlevoix-Saguenay spastic ataxia Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications		rs_141353693	3 SubmittersRCV000861725 RCV001825710 RCV001849148
NM_014363.6(SACS):c.10909A>G (p.Met3637Val)	SNV Germline	Chr13:23332967	Conflicting classifications of pathogenicity	Spastic paraplegia Charlevoix-Saguenay spastic ataxia SACS-related disorder	Criteria Provided Conflicting Classifications		rs_150309559	4 SubmittersRCV000863055 RCV001113445 RCV003955594
NM_014363.6(SACS):c.10298C>T (p.Thr3433Ile)	SNV Germline	Chr13:23333578	Conflicting classifications of pathogenicity	Spastic paraplegia Charlevoix-Saguenay spastic ataxia	Criteria Provided Conflicting Classifications		rs_200991790	3 SubmittersRCV000862368 RCV001109205
NM_014363.6(SACS):c.10291G>C (p.Val3431Leu)	SNV Germline	Chr13:23333585	Conflicting classifications of pathogenicity	Condition: not provided Spastic paraplegia Charlevoix-Saguenay spastic ataxia SACS-related disorder	Criteria Provided Conflicting Classifications		rs_144179865	7 SubmittersRCV000862183 RCV001086035 RCV001109206 RCV003918335
NM_014363.6(SACS):c.10008A>G (p.Lys3336=)	SNV Germline	Chr13:23333868	Conflicting classifications of pathogenicity	Spastic paraplegia Charlevoix-Saguenay spastic ataxia Condition: not provided not specified	Criteria Provided Conflicting Classifications		rs_148971954	8 SubmittersRCV000862514 RCV001111538 RCV001593072 RCV001664493
NM_014363.6(SACS):c.7725A>T (p.Ile2575=)	SNV Germline	Chr13:23336151	Conflicting classifications of pathogenicity	not specified Spastic paraplegia Charlevoix-Saguenay spastic ataxia Condition: not provided SACS-related disorder	Criteria Provided Conflicting Classifications		rs_200735789	7 SubmittersRCV000862794 RCV001080113 RCV001112099 RCV002510993 RCV003918343
NM_014363.6(SACS):c.7306A>C (p.Ile2436Leu)	SNV Germline	Chr13:23336570	Conflicting classifications of pathogenicity	Spastic paraplegia Hereditary spastic paraplegia Charlevoix-Saguenay spastic ataxia	Criteria Provided Conflicting Classifications		rs_567650774	3 SubmittersRCV000862365 RCV001849160 RCV003141874
NM_014363.6(SACS):c.7200T>C (p.Phe2400=)	SNV Germline	Chr13:23336676	Conflicting classifications of pathogenicity	Spastic paraplegia Charlevoix-Saguenay spastic ataxia Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications		rs_148544893	5 SubmittersRCV000863351 RCV001115056 RCV001849169
NM_014363.6(SACS):c.5502G>C (p.Leu1834=)	SNV Germline	Chr13:23338374	Conflicting classifications of pathogenicity	Spastic paraplegia Hereditary spastic paraplegia Charlevoix-Saguenay spastic ataxia not specified	Criteria Provided Conflicting Classifications		rs_34389000	6 SubmittersRCV000861553 RCV001849145 RCV001115154 RCV001664489
NM_014363.6(SACS):c.5461T>C (p.Cys1821Arg)	SNV Germline	Chr13:23338415	Conflicting classifications of pathogenicity	Condition: not provided Spastic paraplegia Charlevoix-Saguenay spastic ataxia Hereditary spastic paraplegia SACS-related disorder	Criteria Provided Conflicting Classifications		rs_376680832	8 SubmittersRCV000863078 RCV001080973 RCV001115156 RCV001849165 RCV003955596
NM_014363.6(SACS):c.1913G>A (p.Cys638Tyr)	SNV Germline	Chr13:23354699	Conflicting classifications of pathogenicity	Condition: not provided Spastic paraplegia Charlevoix-Saguenay spastic ataxia	Criteria Provided Conflicting Classifications		rs_778572943	4 SubmittersRCV000862304 RCV001088293 RCV001277267
NM_014363.6(SACS):c.1593C>T (p.Ile531=)	SNV Germline	Chr13:23355019	Conflicting classifications of pathogenicity	Spastic paraplegia Charlevoix-Saguenay spastic ataxia Condition: not provided Hereditary spastic paraplegia SACS-related disorder	Criteria Provided Conflicting Classifications		rs_113756713	7 SubmittersRCV000861032 RCV001109712 RCV001552523 RCV001849134 RCV003938209
NM_014363.6(SACS):c.1378C>T (p.Leu460Phe)	SNV Germline	Chr13:23355234	Conflicting classifications of pathogenicity	Spastic paraplegia Charlevoix-Saguenay spastic ataxia Condition: not provided Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications		rs_145213666	4 SubmittersRCV000861435 RCV001277270 RCV001288706 RCV001849142
NM_014363.6(SACS):c.1026A>T (p.Lys342Asn)	SNV Germline	Chr13:23355586	Conflicting classifications of pathogenicity	Spastic paraplegia Hereditary spastic paraplegia Charlevoix-Saguenay spastic ataxia SACS-related disorder	Criteria Provided Conflicting Classifications		rs_190623423	4 SubmittersRCV000862139 RCV001849155 RCV003141873 RCV003892784
NM_014363.6(SACS):c.12829C>T (p.Pro4277Ser)	SNV Germline	Chr13:23331047	Conflicting classifications of pathogenicity	Spastic paraplegia Charlevoix-Saguenay spastic ataxia not specified Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications		rs_370655945	6 SubmittersRCV000867623 RCV001113355 RCV001288702 RCV001847073
NM_014363.6(SACS):c.7101G>A (p.Ala2367=)	SNV Germline	Chr13:23336775	Conflicting classifications of pathogenicity	Spastic paraplegia Charlevoix-Saguenay spastic ataxia	Criteria Provided Conflicting Classifications		rs_764702321	3 SubmittersRCV000868084 RCV001109418
NM_014363.6(SACS):c.3915T>C (p.His1305=)	SNV Germline	Chr13:23339961	Conflicting classifications of pathogenicity	Condition: not provided Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Conflicting Classifications		rs_767598017	4 SubmittersRCV000865691 RCV001112286 RCV001446915
NM_014363.6(SACS):c.3417C>T (p.His1139=)	SNV Germline	Chr13:23340459	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Conflicting Classifications		rs_758862765	3 SubmittersRCV001113627 RCV001396576
NM_014363.6(SACS):c.861C>T (p.Tyr287=)	SNV Germline	Chr13:23355751	Conflicting classifications of pathogenicity	Condition: not provided Spastic paraplegia Charlevoix-Saguenay spastic ataxia	Criteria Provided Conflicting Classifications		rs_200877272	5 SubmittersRCV000869346 RCV001081486 RCV001112464
NM_014363.6(SACS):c.151C>T (p.Leu51=)	SNV Germline	Chr13:23375139	Conflicting classifications of pathogenicity	Spastic paraplegia Charlevoix-Saguenay spastic ataxia	Criteria Provided Conflicting Classifications		rs_979224977	3 SubmittersRCV000865792 RCV001113815
NM_014363.6(SACS):c.7497C>T (p.Val2499=)	SNV Germline	Chr13:23336379	Conflicting classifications of pathogenicity	Spastic paraplegia Charlevoix-Saguenay spastic ataxia	Criteria Provided Conflicting Classifications		rs_774558627	4 SubmittersRCV000873350 RCV001115052
NM_014363.6(SACS):c.5169A>G (p.Ala1723=)	SNV Germline	Chr13:23338707	Conflicting classifications of pathogenicity	Spastic paraplegia Charlevoix-Saguenay spastic ataxia	Criteria Provided Conflicting Classifications		rs_200699984	3 SubmittersRCV000874244 RCV001109529
NM_014363.6(SACS):c.1752A>G (p.Leu584=)	SNV Germline	Chr13:23354860	Conflicting classifications of pathogenicity	Spastic paraplegia Charlevoix-Saguenay spastic ataxia Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications		rs_368626712	3 SubmittersRCV000871517 RCV001277269 RCV001847087
NM_006612.6(KIF1C):c.884C>T (p.Ser295Leu)	SNV Germline	Chr17:5004017	Conflicting classifications of pathogenicity	Condition: not provided Spastic ataxia 2 Hereditary spastic paraplegia Inborn genetic diseases KIF1C-related disorder	Criteria Provided Conflicting Classifications		rs_145650252	5 SubmittersRCV000871153 RCV001446098 RCV001847085 RCV002539099 RCV003920401
NM_006612.6(KIF1C):c.3198A>G (p.Gln1066=)	SNV Germline	Chr17:5024037	Conflicting classifications of pathogenicity	Spastic ataxia 2 Hereditary spastic paraplegia Condition: not provided	Criteria Provided Conflicting Classifications		rs_143972053	3 SubmittersRCV000871154 RCV001847086 RCV003413694
NM_006612.6(KIF1C):c.1563C>T (p.Gly521=)	SNV Germline	Chr17:5013724	Conflicting classifications of pathogenicity	Spastic ataxia 2 Hereditary spastic paraplegia Condition: not provided	Criteria Provided Conflicting Classifications		rs_376123205	3 SubmittersRCV000945782 RCV001847116 RCV003424485
NM_014363.6(SACS):c.11049T>C (p.Asn3683=)	SNV Germline	Chr13:23332827	Conflicting classifications of pathogenicity	Spastic paraplegia not specified Charlevoix-Saguenay spastic ataxia Hereditary spastic paraplegia SACS-related disorder	Criteria Provided Conflicting Classifications		rs_773770705	5 SubmittersRCV000973335 RCV001664583 RCV001832214 RCV001847118 RCV003953325
NM_014363.6(SACS):c.8958C>T (p.His2986=)	SNV Germline	Chr13:23334918	Conflicting classifications of pathogenicity	Spastic paraplegia Charlevoix-Saguenay spastic ataxia Condition: not provided	Criteria Provided Conflicting Classifications		rs_758029668	4 SubmittersRCV000973863 RCV001114945 RCV003883518
NM_014363.6(SACS):c.9912C>T (p.Leu3304=)	SNV Germline	Chr13:23333964	Conflicting classifications of pathogenicity	Spastic paraplegia Charlevoix-Saguenay spastic ataxia	Criteria Provided Conflicting Classifications		rs_1593124372	2 SubmittersRCV001410507 RCV001578937
NM_006612.6(KIF1C):c.1310C>T (p.Pro437Leu)	SNV Germline	Chr17:5007059	Conflicting classifications of pathogenicity	Spastic ataxia 2 Hereditary spastic paraplegia Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_148619121	3 SubmittersRCV001452858 RCV001847121 RCV002549567
NM_014363.6(SACS):c.11941C>T (p.Gln3981Ter)	SNV Germline	Chr13:23331935	Pathogenic	Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Multiple Submitters No Conflicts		rs_1593121484	2 SubmittersRCV000988964 RCV001858698
NM_014363.6(SACS):c.562G>A (p.Gly188Arg)	SNV Germline	Chr13:23358377	Pathogenic/Likely pathogenic	Charlevoix-Saguenay spastic ataxia	Criteria Provided Multiple Submitters No Conflicts		rs_780184251	2 SubmittersRCV000988966
NM_002109.6(HARS1):c.1393A>C (p.Ile465Leu)	SNV Germline	Chr5:140674744	Conflicting classifications of pathogenicity	11 conditions Usher syndrome type 3B Spastic ataxia Peripheral neuropathy HARS1-related disorder	Criteria Provided Conflicting Classifications		rs_754304255	4 SubmittersRCV001007622 RCV001246783 RCV001644878 RCV001814247 RCV003973002
NM_002109.6(HARS1):c.616G>T (p.Asp206Tyr)	SNV Germline	Chr5:140677922	Pathogenic	10 conditions Spastic ataxia	Criteria Provided Single Submitter		rs_1131040	1 SubmittersRCV001007619 RCV001644875
NM_014363.6(SACS):c.964G>T (p.Glu322Ter)	SNV Germline	Chr13:23355648	Likely pathogenic	Charlevoix-Saguenay spastic ataxia	Criteria Provided Single Submitter		rs_1593145590	1 SubmittersRCV000991449
NM_014363.6(SACS):c.13273G>A (p.Gly4425Arg)	SNV Germline	Chr13:23330603	Conflicting classifications of pathogenicity	Condition: not provided Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Conflicting Classifications		rs_754693143	3 SubmittersRCV000992778 RCV001832305 RCV002549808
NM_014363.6(SACS):c.11309C>G (p.Ala3770Gly)	SNV Germline	Chr13:23332567	Conflicting classifications of pathogenicity	Condition: not provided Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Conflicting Classifications		rs_1170997950	3 SubmittersRCV000992776 RCV001827137 RCV003750836
NM_014363.6(SACS):c.11302A>G (p.Thr3768Ala)	SNV Germline	Chr13:23332574	Conflicting classifications of pathogenicity	Condition: not provided Charlevoix-Saguenay spastic ataxia Spastic paraplegia Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_774463808	4 SubmittersRCV000992775 RCV001827136 RCV002549807 RCV002549806
NM_014363.6(SACS):c.11301A>T (p.Lys3767Asn)	SNV Germline	Chr13:23332575	Conflicting classifications of pathogenicity	Condition: not provided Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Conflicting Classifications		rs_762041995	3 SubmittersRCV000992774 RCV001274919 RCV001858755
NM_014363.6(SACS):c.9677A>G (p.Tyr3226Cys)	SNV Germline	Chr13:23334199	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia Condition: not provided Spastic paraplegia	Criteria Provided Conflicting Classifications		rs_776143384	3 SubmittersRCV001273197 RCV000992802 RCV002549812
NM_014363.6(SACS):c.9359G>T (p.Arg3120Leu)	SNV Germline	Chr13:23334517	Conflicting classifications of pathogenicity	Condition: not provided Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Conflicting Classifications		rs_569955570	3 SubmittersRCV000992801 RCV001274924 RCV002549811
NM_014363.6(SACS):c.6518T>C (p.Ile2173Thr)	SNV Germline	Chr13:23337358	Conflicting classifications of pathogenicity	Condition: not provided Spastic paraplegia Charlevoix-Saguenay spastic ataxia	Criteria Provided Conflicting Classifications		rs_368624188	5 SubmittersRCV000992795 RCV001245042 RCV001111735
NM_014363.6(SACS):c.6364A>G (p.Lys2122Glu)	SNV Germline	Chr13:23337512	Conflicting classifications of pathogenicity	Condition: not provided Spastic paraplegia Charlevoix-Saguenay spastic ataxia Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_755723511	5 SubmittersRCV000992793 RCV001362985 RCV001784523 RCV004030146
NM_014363.6(SACS):c.2686C>T (p.Leu896Phe)	SNV Germline	Chr13:23341190	Conflicting classifications of pathogenicity	Condition: not provided Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Conflicting Classifications		rs_760556327	3 SubmittersRCV000992785 RCV001832307 RCV002549810
NM_014363.6(SACS):c.2182C>G (p.Arg728Gly)	SNV Germline	Chr13:23353788	Conflicting classifications of pathogenicity	Condition: not provided Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Conflicting Classifications		rs_752059006	3 SubmittersRCV000992782 RCV001277266 RCV002550646
NM_014363.6(SACS):c.1498G>A (p.Val500Ile)	SNV Germline	Chr13:23355114	Conflicting classifications of pathogenicity	Condition: not provided Spastic paraplegia Charlevoix-Saguenay spastic ataxia	Criteria Provided Conflicting Classifications		rs_1244967438	3 SubmittersRCV000992780 RCV002550645 RCV001827138
NM_014363.6(SACS):c.1310C>T (p.Thr437Met)	SNV Germline	Chr13:23355302	Conflicting classifications of pathogenicity	Condition: not provided Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Conflicting Classifications		rs_199657817	3 SubmittersRCV000992777 RCV001832304 RCV002550644
NM_014363.6(SACS):c.7150G>A (p.Glu2384Lys)	SNV Germline	Chr13:23336726	Conflicting classifications of pathogenicity	Condition: not provided Charlevoix-Saguenay spastic ataxia Spastic paraplegia Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications		rs_762896797	6 SubmittersRCV000995035 RCV001115057 RCV001242408 RCV001847126
NM_014363.6(SACS):c.5711C>G (p.Thr1904Arg)	SNV Germline	Chr13:23338165	Conflicting classifications of pathogenicity	Condition: not provided Spastic paraplegia Charlevoix-Saguenay spastic ataxia Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_758570844	5 SubmittersRCV000995038 RCV001419225 RCV001578936 RCV002549896
NM_006612.6(KIF1C):c.447C>T (p.Ile149=)	SNV Germline	Chr17:5002481	Conflicting classifications of pathogenicity	Condition: not provided Spastic ataxia 2	Criteria Provided Conflicting Classifications		rs_767820925	2 SubmittersRCV000996457 RCV002549938
NM_014363.6(SACS):c.10546C>T (p.Gln3516Ter)	SNV Germline	Chr13:23333330	Pathogenic/Likely pathogenic	Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Multiple Submitters No Conflicts		rs_1593123432	2 SubmittersRCV001004402 RCV003750840
NM_014363.6(SACS):c.13614C>A (p.Tyr4538Ter)	SNV Germline	Chr13:23330262	Pathogenic	Spastic paraplegia Charlevoix-Saguenay spastic ataxia	Criteria Provided Single Submitter		rs_927804920	2 SubmittersRCV001045016 RCV001832428
NM_014363.6(SACS):c.5785C>T (p.Arg1929Trp)	SNV Germline	Chr13:23338091	Conflicting classifications of pathogenicity	Spastic paraplegia Charlevoix-Saguenay spastic ataxia	Criteria Provided Conflicting Classifications		rs_141019064	4 SubmittersRCV001064907 RCV001115152
NM_014363.6(SACS):c.5428C>T (p.Gln1810Ter)	SNV Germline	Chr13:23338448	Pathogenic/Likely pathogenic	Spastic paraplegia Condition: not provided Charlevoix-Saguenay spastic ataxia	Criteria Provided Multiple Submitters No Conflicts		rs_1868872666	3 SubmittersRCV001039830 RCV001289179 RCV001785771
NM_014363.6(SACS):c.5045G>A (p.Arg1682Lys)	SNV Germline	Chr13:23338831	Conflicting classifications of pathogenicity	Spastic paraplegia Charlevoix-Saguenay spastic ataxia Condition: not provided Inborn genetic diseases SACS-related disorder	Criteria Provided Conflicting Classifications		rs_1269546947	5 SubmittersRCV001043294 RCV001832412 RCV002280151 RCV003160304 RCV003953443
NM_014363.6(SACS):c.1201C>T (p.Arg401Ter)	SNV Germline	Chr13:23355411	Pathogenic/Likely pathogenic	Spastic paraplegia Charlevoix-Saguenay spastic ataxia	Criteria Provided Multiple Submitters No Conflicts		rs_769212398	4 SubmittersRCV001046270 RCV001261525
NM_014363.6(SACS):c.175T>A (p.Ser59Thr)	SNV Germline	Chr13:23371162	Conflicting classifications of pathogenicity	Spastic paraplegia Condition: not provided Charlevoix-Saguenay spastic ataxia Inborn genetic diseases SACS-related disorder	Criteria Provided Conflicting Classifications		rs_539836931	6 SubmittersRCV001043293 RCV001759750 RCV001784587 RCV003160303 RCV003953442
NM_006612.6(KIF1C):c.527C>T (p.Pro176Leu)	SNV Germline	Chr17:5002561	Pathogenic/Likely pathogenic	Condition: not provided Spastic ataxia 2	Criteria Provided Multiple Submitters No Conflicts		rs_772475828	3 SubmittersRCV001093146 RCV001219292
NM_006612.6(KIF1C):c.714G>A (p.Ser238=)	SNV Germline	Chr17:5002836	Conflicting classifications of pathogenicity	Condition: not provided Spastic ataxia 2 Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications		rs_368886383	3 SubmittersRCV001093147 RCV001312503 RCV001847154
NM_014363.6(SACS):c.*821A>G	SNV Germline	Chr13:23329315	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia Hereditary spastic paraplegia Condition: not provided	Criteria Provided Conflicting Classifications		rs_145184122	3 SubmittersRCV001114619 RCV001847160 RCV003326541
NM_014363.6(SACS):c.13563T>C (p.Asn4521=)	SNV Germline	Chr13:23330313	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Conflicting Classifications		rs_766497653	3 SubmittersRCV001111340 RCV001490674
NM_014363.6(SACS):c.13409A>G (p.Asn4470Ser)	SNV Germline	Chr13:23330467	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Conflicting Classifications		rs_757326594	2 SubmittersRCV001113352 RCV002558130
NM_014363.6(SACS):c.13344C>T (p.Arg4448=)	SNV Germline	Chr13:23330532	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Conflicting Classifications		rs_200157359	3 SubmittersRCV001113353 RCV001514077
NM_014363.6(SACS):c.12812C>T (p.Pro4271Leu)	SNV Germline	Chr13:23331064	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Conflicting Classifications		rs_779668584	2 SubmittersRCV001114728 RCV003117762
NM_014363.6(SACS):c.12765G>A (p.Arg4255=)	SNV Germline	Chr13:23331111	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Conflicting Classifications		rs_139692779	3 SubmittersRCV001114729 RCV001416509
NM_014363.6(SACS):c.12693T>C (p.Tyr4231=)	SNV Germline	Chr13:23331183	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Conflicting Classifications		rs_1163399365	2 SubmittersRCV001114731 RCV003750853
NM_014363.6(SACS):c.12647A>G (p.Asp4216Gly)	SNV Germline	Chr13:23331229	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Conflicting Classifications		rs_550068559	3 SubmittersRCV001114732 RCV001419743
NM_014363.6(SACS):c.10485G>A (p.Glu3495=)	SNV Germline	Chr13:23333391	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Conflicting Classifications		rs_757255802	3 SubmittersRCV001114845 RCV001472210
NM_014363.6(SACS):c.10096C>T (p.His3366Tyr)	SNV Germline	Chr13:23333780	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Conflicting Classifications		rs_1388546547	2 SubmittersRCV001111537 RCV002556175
NM_014363.6(SACS):c.9903G>T (p.Leu3301=)	SNV Germline	Chr13:23333973	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia Spastic paraplegia not specified	Criteria Provided Conflicting Classifications		rs_563145604	4 SubmittersRCV001111539 RCV001477623 RCV001664692
NM_014363.6(SACS):c.9283C>G (p.Pro3095Ala)	SNV Germline	Chr13:23334593	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Conflicting Classifications		rs_201899988	2 SubmittersRCV001113534 RCV002558133
NM_014363.6(SACS):c.8853T>G (p.Val2951=)	SNV Germline	Chr13:23335023	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Conflicting Classifications		rs_9552929	3 SubmittersRCV001114947 RCV001489757
NM_014363.6(SACS):c.8191C>T (p.Arg2731Cys)	SNV Germline	Chr13:23335685	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Conflicting Classifications		rs_772072343	2 SubmittersRCV001111635 RCV002558116
NM_014363.6(SACS):c.7614A>C (p.Ala2538=)	SNV Germline	Chr13:23336262	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Conflicting Classifications		rs_142697365	3 SubmittersRCV001112100 RCV001454999
NM_014363.6(SACS):c.7601G>A (p.Ser2534Asn)	SNV Germline	Chr13:23336275	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Conflicting Classifications		rs_750491874	2 SubmittersRCV001112101 RCV002556188
NM_014363.6(SACS):c.7394C>T (p.Ser2465Leu)	SNV Germline	Chr13:23336482	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia Condition: not provided Spastic paraplegia Hereditary spastic paraplegia not specified	Criteria Provided Conflicting Classifications		rs_747676277	10 SubmittersRCV001115054 RCV001269831 RCV001247856 RCV001847161 RCV003387965
NM_014363.6(SACS):c.7376T>C (p.Met2459Thr)	SNV Germline	Chr13:23336500	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Conflicting Classifications		rs_767864000	2 SubmittersRCV001115055 RCV002556257
NM_014363.6(SACS):c.7147C>T (p.Arg2383Cys)	SNV Germline	Chr13:23336729	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Conflicting Classifications		rs_772611372	2 SubmittersRCV001109416 RCV002556142
NM_014363.6(SACS):c.5466T>C (p.Thr1822=)	SNV Germline	Chr13:23338410	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Conflicting Classifications		rs_757576348	2 SubmittersRCV001115155 RCV002556259
NM_014363.6(SACS):c.5043C>T (p.His1681=)	SNV Germline	Chr13:23338833	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Conflicting Classifications		rs_1868915593	2 SubmittersRCV001109530 RCV002555066
NM_014363.6(SACS):c.4986G>A (p.Thr1662=)	SNV Germline	Chr13:23338890	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Conflicting Classifications		rs_755523201	3 SubmittersRCV001109531 RCV001425988
NM_014363.6(SACS):c.4255A>G (p.Ile1419Val)	SNV Germline	Chr13:23339621	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia Condition: not provided Spastic paraplegia	Criteria Provided Conflicting Classifications		rs_138245586	4 SubmittersRCV001111813 RCV001289170 RCV001482679
NM_014363.6(SACS):c.4015A>C (p.Ile1339Leu)	SNV Germline	Chr13:23339861	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia Hereditary spastic paraplegia Spastic paraplegia	Criteria Provided Conflicting Classifications		rs_143144795	4 SubmittersRCV001112285 RCV001847159 RCV001523475
NM_014363.6(SACS):c.3346G>A (p.Gly1116Ser)	SNV Germline	Chr13:23340530	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Conflicting Classifications		rs_774044532	2 SubmittersRCV001113628 RCV002556214
NM_014363.6(SACS):c.2791A>T (p.Asn931Tyr)	SNV Germline	Chr13:23341085	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia Spastic paraplegia Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_190383030	5 SubmittersRCV001111914 RCV001479507 RCV002556181
NM_014363.6(SACS):c.2488G>A (p.Asp830Asn)	SNV Germline	Chr13:23341388	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Conflicting Classifications		rs_571646732	2 SubmittersRCV001112373 RCV002556195
NM_014363.6(SACS):c.1444C>G (p.Leu482Val)	SNV Germline	Chr13:23355168	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Conflicting Classifications		rs_141487769	2 SubmittersRCV001109713 RCV002069778
NM_014363.6(SACS):c.1259T>C (p.Ile420Thr)	SNV Germline	Chr13:23355353	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia Inborn genetic diseases Spastic paraplegia	Criteria Provided Conflicting Classifications		rs_761791412	3 SubmittersRCV001112020 RCV002555083 RCV002556187
NM_014363.6(SACS):c.447G>A (p.Ala149=)	SNV Germline	Chr13:23365176	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Conflicting Classifications		rs_145681117	3 SubmittersRCV001113813 RCV001489166
NM_014363.6(SACS):c.60C>T (p.Cys20=)	SNV Germline	Chr13:23375230	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Conflicting Classifications		rs_932552006	3 SubmittersRCV001109790 RCV001462819
NM_016035.5(COQ4):c.305G>A (p.Arg102His)	SNV Germline	Chr9:128325784	Pathogenic	Spastic ataxia Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome Spastic ataxia 10, autosomal recessive	Criteria Provided Single Submitter		rs_929713295	2 SubmittersRCV001644928 RCV001374711 RCV003482334
NM_016035.5(COQ4):c.577C>T (p.Pro193Ser)	SNV Germline	Chr9:128332894	Conflicting classifications of pathogenicity	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome Spastic ataxia	Criteria Provided Conflicting Classifications		rs_568200779	3 SubmittersRCV001374710 RCV001644929
NM_000153.4(GALC):c.673G>A (p.Ala225Thr)	SNV Germline	Chr14:87976437	Conflicting classifications of pathogenicity	Galactosylceramide beta-galactosidase deficiency Spastic ataxia Condition: not provided	Criteria Provided Conflicting Classifications		rs_1436074042	6 SubmittersRCV001195147 RCV001644930 RCV001508371
NM_014363.6(SACS):c.5143A>T (p.Lys1715Ter)	SNV Germline	Chr13:23338733	Pathogenic	Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Multiple Submitters No Conflicts		rs_755824618	4 SubmittersRCV001174760 RCV001387163
NM_014363.6(SACS):c.4724G>A (p.Arg1575Gln)	SNV Germline	Chr13:23339152	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia Condition: not provided Spastic paraplegia Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_764992284	4 SubmittersRCV001195790 RCV003482337 RCV002559244 RCV002560209
NM_014363.6(SACS):c.11048A>G (p.Asn3683Ser)	SNV Germline	Chr13:23332828	Conflicting classifications of pathogenicity	Condition: not provided Spastic paraplegia Charlevoix-Saguenay spastic ataxia	Criteria Provided Conflicting Classifications		rs_138609508	3 SubmittersRCV001200357 RCV001491334 RCV001780106
NM_014363.6(SACS):c.23G>A (p.Trp8Ter)	SNV Germline	Chr13:23375267	Pathogenic/Likely pathogenic	Spastic paraplegia Charlevoix-Saguenay spastic ataxia	Criteria Provided Multiple Submitters No Conflicts		rs_1871684539	2 SubmittersRCV001215300 RCV003473764
NM_014363.6(SACS):c.13694C>A (p.Ala4565Asp)	SNV Germline	Chr13:23330182	Conflicting classifications of pathogenicity	Spastic paraplegia Charlevoix-Saguenay spastic ataxia	Criteria Provided Conflicting Classifications		rs_375722463	3 SubmittersRCV001207368 RCV001833823
NM_014363.6(SACS):c.9275A>T (p.Tyr3092Phe)	SNV Germline	Chr13:23334601	Conflicting classifications of pathogenicity	Spastic paraplegia Charlevoix-Saguenay spastic ataxia Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_139579036	5 SubmittersRCV001212079 RCV001780126 RCV001507816 RCV003363166
NM_014363.6(SACS):c.5582G>A (p.Trp1861Ter)	SNV Germline	Chr13:23338294	Pathogenic/Likely pathogenic	Spastic paraplegia Condition: not provided Charlevoix-Saguenay spastic ataxia	Criteria Provided Multiple Submitters No Conflicts		rs_946368716	4 SubmittersRCV001207414 RCV002462358 RCV003469338
NM_005236.3(ERCC4):c.2248C>T (p.Arg750Cys)	SNV Germline	Chr16:13947844	Conflicting classifications of pathogenicity	Fanconi anemia complementation group Q Xeroderma pigmentosum, group F Cockayne syndrome Spastic ataxia	Criteria Provided Conflicting Classifications		rs_374978891	2 SubmittersRCV001211525 RCV001644951
NM_014363.6(SACS):c.4814G>C (p.Ser1605Thr)	SNV Germline	Chr13:23339062	Conflicting classifications of pathogenicity	Spastic paraplegia Charlevoix-Saguenay spastic ataxia Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications		rs_770007806	3 SubmittersRCV001225970 RCV001828802 RCV001847199
NM_024306.5(FA2H):c.965C>T (p.Ser322Leu)	SNV Germline	Chr16:74716421	Conflicting classifications of pathogenicity	Spastic paraplegia Spastic ataxia Hereditary spastic paraplegia 35 not specified	Criteria Provided Conflicting Classifications		rs_373010581	4 SubmittersRCV001235650 RCV001644956 RCV002471051 RCV003155377
NM_014363.6(SACS):c.10076C>T (p.Thr3359Ile)	SNV Germline	Chr13:23333800	Conflicting classifications of pathogenicity	Spastic paraplegia Charlevoix-Saguenay spastic ataxia	Criteria Provided Conflicting Classifications		rs_368089670	4 SubmittersRCV001246542 RCV001328751
NM_014363.6(SACS):c.9947A>C (p.Gln3316Pro)	SNV Germline	Chr13:23333929	Conflicting classifications of pathogenicity	Spastic paraplegia Hereditary spastic paraplegia Charlevoix-Saguenay spastic ataxia	Criteria Provided Conflicting Classifications		rs_775506976	3 SubmittersRCV001247263 RCV001847210 RCV001830006
NM_014363.6(SACS):c.9251T>C (p.Ile3084Thr)	SNV Germline	Chr13:23334625	Conflicting classifications of pathogenicity	Spastic paraplegia Charlevoix-Saguenay spastic ataxia Condition: not provided	Criteria Provided Conflicting Classifications		rs_149290718	4 SubmittersRCV001240147 RCV001780177 RCV001507817
NM_014363.6(SACS):c.5903C>T (p.Ala1968Val)	SNV Germline	Chr13:23337973	Conflicting classifications of pathogenicity	Spastic paraplegia Charlevoix-Saguenay spastic ataxia Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_201866523	4 SubmittersRCV001242782 RCV001780180 RCV001732089 RCV002564044
NM_014363.6(SACS):c.3443A>C (p.Lys1148Thr)	SNV Germline	Chr13:23340433	Conflicting classifications of pathogenicity	Spastic paraplegia Charlevoix-Saguenay spastic ataxia Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_140028127	3 SubmittersRCV001243638 RCV001835177 RCV004034757
NM_014363.6(SACS):c.2926C>T (p.Arg976Cys)	SNV Germline	Chr13:23340950	Conflicting classifications of pathogenicity	Spastic paraplegia Charlevoix-Saguenay spastic ataxia Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_139993038	3 SubmittersRCV001239667 RCV001828927 RCV002567936
NM_006796.3(AFG3L2):c.1858C>A (p.Gln620Lys)	SNV Germline	Chr18:12340323	Pathogenic	Spastic ataxia 5	No Assertion Criteria Provided		rs_1907907851	1 SubmittersRCV001253808
NM_006796.3(AFG3L2):c.916A>G (p.Lys306Glu)	SNV Germline	Chr18:12358780	Pathogenic	Spastic ataxia 5	No Assertion Criteria Provided		rs_1908569446	1 SubmittersRCV001253816
NM_014363.6(SACS):c.4933C>T (p.Arg1645Ter)	SNV Germline	Chr13:23338943	Pathogenic	Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Multiple Submitters No Conflicts		rs_770901638	5 SubmittersRCV001255708 RCV001383726
NM_032756.4(HPDL):c.149G>A (p.Gly50Asp)	SNV Germline	Chr1:45327297	Pathogenic	Spastic paraplegia Spastic paraplegia 83, autosomal recessive Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities Condition: not provided Spastic ataxia	Criteria Provided Multiple Submitters No Conflicts		rs_1391712320	6 SubmittersRCV001849493 RCV001258386 RCV004557495 RCV001268812 RCV001819964
NM_014363.6(SACS):c.11914C>T (p.Arg3972Ter)	SNV Germline	Chr13:23331962	Pathogenic/Likely pathogenic	Condition: not provided Spastic paraplegia Charlevoix-Saguenay spastic ataxia	Criteria Provided Multiple Submitters No Conflicts		rs_781491486	3 SubmittersRCV001268846 RCV002541639 RCV002499459
NM_014363.6(SACS):c.12538G>T (p.Glu4180Ter)	SNV Unknown	Chr13:23331338	Pathogenic	Charlevoix-Saguenay spastic ataxia	Criteria Provided Single Submitter		rs_2137557832	1 SubmittersRCV001391383
NM_014363.6(SACS):c.12268C>A (p.His4090Asn)	SNV Unknown	Chr13:23331608	Pathogenic	Charlevoix-Saguenay spastic ataxia	Criteria Provided Single Submitter		rs_2137559913	1 SubmittersRCV001391382
NM_014363.6(SACS):c.12014T>C (p.Leu4005Pro)	SNV Unknown	Chr13:23331862	Pathogenic	Charlevoix-Saguenay spastic ataxia	Criteria Provided Single Submitter		rs_2137561906	1 SubmittersRCV001391381
NM_014363.6(SACS):c.7274G>C (p.Arg2425Pro)	SNV Unknown	Chr13:23336602	Pathogenic	Charlevoix-Saguenay spastic ataxia	Criteria Provided Single Submitter		rs_771583552	1 SubmittersRCV001391624
NM_014363.6(SACS):c.6650C>A (p.Pro2217Gln)	SNV Germline	Chr13:23337226	Pathogenic/Likely pathogenic	Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Multiple Submitters No Conflicts		rs_1868700605	2 SubmittersRCV001391623 RCV001880217
NM_014363.6(SACS):c.6126C>A (p.Cys2042Ter)	SNV Unknown	Chr13:23337750	Pathogenic	Charlevoix-Saguenay spastic ataxia	Criteria Provided Single Submitter		rs_761655321	1 SubmittersRCV001391622
NM_014363.6(SACS):c.5761T>G (p.Tyr1921Asp)	SNV Unknown	Chr13:23338115	Pathogenic	Charlevoix-Saguenay spastic ataxia	Criteria Provided Single Submitter		rs_2137616027	1 SubmittersRCV001391621
NM_014363.6(SACS):c.4724G>C (p.Arg1575Pro)	SNV Unknown	Chr13:23339152	Pathogenic	Charlevoix-Saguenay spastic ataxia	Criteria Provided Single Submitter		rs_764992284	1 SubmittersRCV001391619
NM_014363.6(SACS):c.4718T>G (p.Met1573Arg)	SNV Unknown	Chr13:23339158	Pathogenic	Charlevoix-Saguenay spastic ataxia	Criteria Provided Single Submitter		rs_2137625077	1 SubmittersRCV001391618
NM_006612.6(KIF1C):c.445A>T (p.Ile149Phe)	SNV Unknown	Chr17:5002479	Pathogenic	Spastic ataxia 2	Criteria Provided Single Submitter		rs_2143312682	1 SubmittersRCV001391533
NM_014363.6(SACS):c.12190C>A (p.Pro4064Thr)	SNV Germline	Chr13:23331686	Conflicting classifications of pathogenicity	Condition: not provided Charlevoix-Saguenay spastic ataxia Spastic paraplegia Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_200707453	5 SubmittersRCV001288699 RCV001835372 RCV002541790 RCV002542996
NM_014363.6(SACS):c.12130G>C (p.Gly4044Arg)	SNV Germline	Chr13:23331746	Conflicting classifications of pathogenicity	Condition: not provided Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Conflicting Classifications		rs_753511073	3 SubmittersRCV001288698 RCV001835371 RCV002542995
NM_014363.6(SACS):c.11887A>G (p.Met3963Val)	SNV Germline	Chr13:23331989	Conflicting classifications of pathogenicity	Condition: not provided Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Conflicting Classifications		rs_375613914	3 SubmittersRCV001288697 RCV001830099 RCV002541789
NM_014363.6(SACS):c.11109C>T (p.Ser3703=)	SNV Germline	Chr13:23332767	Conflicting classifications of pathogenicity	Condition: not provided Spastic paraplegia Charlevoix-Saguenay spastic ataxia	Criteria Provided Conflicting Classifications		rs_1883570677	3 SubmittersRCV001288695 RCV001454515 RCV001780235
NM_014363.6(SACS):c.10787C>T (p.Ser3596Phe)	SNV Germline	Chr13:23333089	Conflicting classifications of pathogenicity	Condition: not provided Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Conflicting Classifications		rs_755172172	3 SubmittersRCV001288372 RCV001836255 RCV003750861
NM_014363.6(SACS):c.10158A>G (p.Ala3386=)	SNV Germline	Chr13:23333718	Conflicting classifications of pathogenicity	Condition: not provided Spastic paraplegia Charlevoix-Saguenay spastic ataxia	Criteria Provided Conflicting Classifications		rs_775633710	3 SubmittersRCV001288367 RCV001398932 RCV001780234
NM_014363.6(SACS):c.8192G>A (p.Arg2731His)	SNV Germline	Chr13:23335684	Conflicting classifications of pathogenicity	Condition: not provided Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Conflicting Classifications		rs_201127191	6 SubmittersRCV001287918 RCV001328753 RCV002537966
NM_014363.6(SACS):c.6778A>G (p.Ile2260Val)	SNV Germline	Chr13:23337098	Conflicting classifications of pathogenicity	Condition: not provided Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Conflicting Classifications		rs_202110208	3 SubmittersRCV001287910 RCV001830092 RCV002537965
NM_014363.6(SACS):c.4913G>A (p.Ser1638Asn)	SNV Germline	Chr13:23338963	Conflicting classifications of pathogenicity	Condition: not provided Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Conflicting Classifications		rs_774163551	3 SubmittersRCV001289176 RCV001830108 RCV002537985
NM_014363.6(SACS):c.4840T>C (p.Phe1614Leu)	SNV Germline	Chr13:23339036	Conflicting classifications of pathogenicity	Condition: not provided Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Conflicting Classifications		rs_771080306	3 SubmittersRCV001289174 RCV001830107 RCV003588737
NM_014363.6(SACS):c.4299G>A (p.Trp1433Ter)	SNV Germline	Chr13:23339577	Likely pathogenic	Condition: not provided Charlevoix-Saguenay spastic ataxia	Criteria Provided Single Submitter		rs_768209419	2 SubmittersRCV001289171 RCV001830105
NM_014363.6(SACS):c.2806C>A (p.Gln936Lys)	SNV Germline	Chr13:23341070	Conflicting classifications of pathogenicity	Condition: not provided Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Conflicting Classifications		rs_61978562	3 SubmittersRCV001288712 RCV001830102 RCV002069552
NM_014363.6(SACS):c.2585C>T (p.Pro862Leu)	SNV Germline	Chr13:23341291	Conflicting classifications of pathogenicity	Condition: not provided Charlevoix-Saguenay spastic ataxia Spastic paraplegia Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_776290829	5 SubmittersRCV001288711 RCV001830101 RCV002541792 RCV002537977
NM_014363.6(SACS):c.1387C>A (p.His463Asn)	SNV Germline	Chr13:23355225	Conflicting classifications of pathogenicity	Condition: not provided Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Conflicting Classifications		rs_149951538	3 SubmittersRCV001288707 RCV001830100 RCV003588736
NM_000081.4(LYST):c.9616G>C (p.Asp3206His)	SNV Germline	Chr1:235716723	Conflicting classifications of pathogenicity	Chédiak-Higashi syndrome Spastic ataxia	Criteria Provided Conflicting Classifications		rs_746911004	2 SubmittersRCV001319842 RCV001644984
NM_000702.4(ATP1A2):c.2285-2A>C	SNV Unknown	Chr1:160135837	Pathogenic	Spastic ataxia	Criteria Provided Single Submitter		rs_2101995423	1 SubmittersRCV001647244
NM_018122.5(DARS2):c.416T>C (p.Ile139Thr)	SNV Unknown	Chr1:173831554	Likely pathogenic	Spastic ataxia	Criteria Provided Single Submitter		rs_1279409996	1 SubmittersRCV001647157
NM_020435.4(GJC2):c.302G>T (p.Arg101Leu)	SNV Germline	Chr1:228158060	Conflicting classifications of pathogenicity	Spastic ataxia Hypomyelinating leukodystrophy 2 Spastic paraplegia	Criteria Provided Conflicting Classifications		rs_375288744	3 SubmittersRCV001647154 RCV002298930 RCV002546241
NM_001020658.2(PUM1):c.221G>A (p.Arg74His)	SNV Unknown	Chr1:31059346	Likely pathogenic	Spastic ataxia	Criteria Provided Single Submitter		rs_2124008235	1 SubmittersRCV001647256
NM_001365792.1(DAB1):c.763C>T (p.Pro255Ser)	SNV Unknown	Chr1:57026004	Likely pathogenic	Spastic ataxia	Criteria Provided Single Submitter		rs_1646774558	1 SubmittersRCV001647225
NM_000726.5(CACNB4):c.615A>T (p.Lys205Asn)	SNV Unknown	Chr2:151870845	Likely pathogenic	Spastic ataxia	Criteria Provided Single Submitter		rs_2151410142	1 SubmittersRCV001647152
NM_001040142.2(SCN2A):c.5114T>C (p.Ile1705Thr)	SNV Germline	Chr2:165388920	Conflicting classifications of pathogenicity	Spastic ataxia Seizures, benign familial infantile, 3 Developmental and epileptic encephalopathy, 11 Condition: not provided	Criteria Provided Conflicting Classifications		rs_2105402552	3 SubmittersRCV001647222 RCV002298931 RCV003234046
NM_001244008.2(KIF1A):c.1139G>A (p.Arg380Gln)	SNV Germline	Chr2:240773155	Conflicting classifications of pathogenicity	Neuropathy, hereditary sensory, type 2C Hereditary spastic paraplegia 30 Intellectual disability, autosomal dominant 9 Spastic ataxia	Criteria Provided Conflicting Classifications		rs_759791775	2 SubmittersRCV001859247 RCV001647221
NM_182961.4(SYNE1):c.706C>T (p.Arg236Ter)	SNV Germline	Chr6:152505273	Pathogenic	Spastic ataxia Autosomal recessive ataxia, Beauce type Emery-Dreifuss muscular dystrophy 4, autosomal dominant Emery-Dreifuss muscular dystrophy 4, autosomal dominant SYNE1-related disorder	Criteria Provided Multiple Submitters No Conflicts		rs_2154331501	4 SubmittersRCV001647253 RCV001863182 RCV003323858 RCV004531115
NM_022726.4(ELOVL4):c.571A>T (p.Ile191Phe)	SNV Unknown	Chr6:79919518	Likely pathogenic	Spastic ataxia	Criteria Provided Single Submitter		rs_2127698054	1 SubmittersRCV001647218
NM_153704.6(TMEM67):c.2081C>A (p.Thr694Asn)	SNV Unknown	Chr8:93797451	Likely pathogenic	Spastic ataxia	Criteria Provided Single Submitter		rs_2130735756	1 SubmittersRCV001647250
NM_001032221.6(STXBP1):c.298C>T (p.Arg100Trp)	SNV Germline	Chr9:127660081	Conflicting classifications of pathogenicity	Spastic ataxia Early infantile epileptic encephalopathy with suppression bursts Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_764758291	3 SubmittersRCV001647179 RCV001871792 RCV002438759
NM_001032221.6(STXBP1):c.434A>G (p.Tyr145Cys)	SNV Germline	Chr9:127663209	Pathogenic/Likely pathogenic	Spastic ataxia Early infantile epileptic encephalopathy with suppression bursts Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_2131462357	3 SubmittersRCV001647178 RCV001859245 RCV002286839
NM_001130438.3(SPTAN1):c.4870C>T (p.Arg1624Cys)	SNV Unknown	Chr9:128611810	Likely pathogenic	Spastic ataxia	Criteria Provided Single Submitter		rs_1856600618	1 SubmittersRCV001647145
NM_015046.7(SETX):c.5540C>T (p.Thr1847Met)	SNV Unknown	Chr9:132300638	Likely pathogenic	Spastic ataxia	Criteria Provided Single Submitter		rs_763859485	1 SubmittersRCV001647217

NM_000404.4(GLB1):c.1051C>T (p.Arg351Ter)

SNV
Germline

Chr3:33046137

Pathogenic

GM1-gangliosidosis, type I, with cardiac involvement
Infantile GM1 gangliosidosis
GM1 gangliosidosis type 2
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis type 3
Mucopolysaccharidosis, MPS-IV-B
GM1 gangliosidosis
Mucopolysaccharidosis, MPS-IV-B
Infantile GM1 gangliosidosis
Condition: not provided
Spastic ataxia

Criteria Provided
Multiple Submitters
No Conflicts

CA114658

rs_72555372

8 SubmittersRCV000000990 RCV000665526 RCV001223149 RCV000780302 RCV001331201 RCV002225254 RCV001642195

NM_000487.6(ARSA):c.868C>T (p.Arg290Cys)

SNV
Germline

Chr22:50626265

Pathogenic/Likely pathogenic

Metachromatic leukodystrophy
Spastic ataxia

Criteria Provided
Multiple Submitters
No Conflicts

CA278036

rs_74315473

6 SubmittersRCV000003223 RCV001642197

NM_014363.6(SACS):c.7504C>T (p.Arg2502Ter)

SNV
Germline

Chr13:23336372

Pathogenic

Charlevoix-Saguenay spastic ataxia
Condition: not provided
Spastic paraplegia
Hereditary spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA340433

rs_281865118

11 SubmittersRCV000005848 RCV001268308 RCV001851681 RCV001847584

NM_014363.6(SACS):c.12220G>C (p.Ala4074Pro)

SNV
Germline

Chr13:23331656

Pathogenic

Charlevoix-Saguenay spastic ataxia

No Assertion Criteria Provided

CA253511

rs_137853016

1 SubmittersRCV000005849

NM_014363.6(SACS):c.5836T>C (p.Trp1946Arg)

SNV
Germline

Chr13:23338040

Pathogenic/Likely pathogenic

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia
SACS-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA253513

rs_137853017

4 SubmittersRCV000005852 RCV001851682 RCV003415662

NM_014363.6(SACS):c.9742T>C (p.Trp3248Arg)

SNV
Germline

Chr13:23334134

Pathogenic

Charlevoix-Saguenay spastic ataxia

No Assertion Criteria Provided

CA253516

rs_137853018

1 SubmittersRCV000005854

NM_014363.6(SACS):c.3161T>C (p.Phe1054Ser)

SNV
Germline

Chr13:23340715

Pathogenic

Charlevoix-Saguenay spastic ataxia

No Assertion Criteria Provided

CA253518

rs_137853019

1 SubmittersRCV000005855

NM_018109.4(MTPAP):c.1432A>G (p.Asn478Asp)

SNV
Germline

Chr10:30313926

Pathogenic

Spastic ataxia 4
Condition: not provided

Criteria Provided
Single Submitter

CA113782

rs_267606900

2 SubmittersRCV000000002 RCV002513130

NM_006796.3(AFG3L2):c.1996A>G (p.Met666Val)

SNV
Germline

Chr18:12337520

Pathogenic/Likely pathogenic

Spinocerebellar ataxia type 28
Condition: not provided
Optic atrophy 12
Spinocerebellar ataxia type 28
Spastic ataxia 5

Criteria Provided
Multiple Submitters
No Conflicts

CA342731

rs_151344514

5 SubmittersRCV000023376 RCV000992830 RCV002490407

NM_006796.3(AFG3L2):c.1847A>G (p.Tyr616Cys)

SNV
Germline

Chr18:12340334

Pathogenic

Spastic ataxia 5
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA129200

rs_387906889

4 SubmittersRCV000023380 RCV000414375

NM_014363.6(SACS):c.12160C>T (p.Gln4054Ter)

SNV
Germline

Chr13:23331716

Pathogenic/Likely pathogenic

Charlevoix-Saguenay spastic ataxia
Condition: not provided
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA343113

rs_281865120

12 SubmittersRCV000032008 RCV000487627 RCV001044731

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

SNV
Germline

Chr16:89546737

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA090884

rs_61755320

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

NM_000310.4(PPT1):c.665T>C (p.Leu222Pro)

SNV
Germline

Chr1:40078621

Pathogenic/Likely pathogenic

Neuronal ceroid lipofuscinosis 1
Neuronal ceroid lipofuscinosis
Spastic ataxia

Criteria Provided
Multiple Submitters
No Conflicts

CA263538

rs_386833661

5 SubmittersRCV000049621 RCV001192781 RCV001646987

NM_006612.6(KIF1C):c.2191C>T (p.Arg731Ter)

SNV
Germline

Chr17:5022272

Pathogenic

Spastic ataxia 2

Criteria Provided
Single Submitter

CA150723

rs_587777197

2 SubmittersRCV000087323

NM_006612.6(KIF1C):c.505C>T (p.Arg169Trp)

SNV
Germline

Chr17:5002539

Likely pathogenic

Spastic ataxia 2
Condition: not provided

Criteria Provided
Single Submitter

CA150725

rs_587777198

2 SubmittersRCV000087324 RCV003421989

NM_006612.6(KIF1C):c.183G>A (p.Ser61=)

SNV
Germline

Chr17:5000848

Likely pathogenic

Spastic ataxia 2
Hereditary spastic paraplegia

Criteria Provided
Single Submitter

CA10602383

rs_886041035

2 SubmittersRCV000087325 RCV001847658

NM_014363.6(SACS):c.414C>G (p.Tyr138Ter)

SNV
Germline

Chr13:23365209

Pathogenic

Condition: not provided
Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

CA233202

rs_199474695

2 SubmittersRCV000144427 RCV003467200

NM_006796.3(AFG3L2):c.1875G>A (p.Met625Ile)

SNV
Germline

Chr18:12340306

Likely pathogenic

Spastic ataxia 5
Spinocerebellar ataxia type 28
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA175106

rs_727502823

4 SubmittersRCV000149914 RCV002265626 RCV003144139

NM_014363.6(SACS):c.3589T>C (p.Ser1197Pro)

SNV
Germline

Chr13:23340287

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

No Assertion Criteria Provided

CA273726

rs_727503785

1 SubmittersRCV000157061

NM_014363.6(SACS):c.12973C>T (p.Arg4325Ter)

SNV
Germline

Chr13:23330903

Pathogenic/Likely pathogenic

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA274116

rs_762947018

7 SubmittersRCV000169272 RCV001850396

NM_014363.6(SACS):c.12232C>T (p.Arg4078Ter)

SNV
Germline

Chr13:23331644

Pathogenic/Likely pathogenic

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA274060

rs_141315518

4 SubmittersRCV000169220 RCV001850393 RCV002509271

NM_014363.6(SACS):c.7276C>T (p.Arg2426Ter)

SNV
Germline

Chr13:23336600

Pathogenic/Likely pathogenic

Charlevoix-Saguenay spastic ataxia
Condition: not provided
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA274458

rs_786204750

7 SubmittersRCV000169603 RCV000734960 RCV001850407

NM_016035.5(COQ4):c.718C>T (p.Arg240Cys)

SNV
Germline

Chr9:128333565

Pathogenic/Likely pathogenic

Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
Condition: not provided
Spastic ataxia
Inborn genetic diseases
COQ4-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA199144

rs_143441644

12 SubmittersRCV000169636 RCV000256139 RCV001640262 RCV002515203 RCV003390884

NM_001032221.6(STXBP1):c.874C>T (p.Arg292Cys)

SNV
Germline/somatic

Chr9:127668159

Pathogenic/Likely pathogenic

Condition: not provided
Early onset epileptic encephalopathy
not specified
Developmental and epileptic encephalopathy, 4
Early infantile epileptic encephalopathy with suppression bursts
Infantile epilepsy syndrome
Inborn genetic diseases
Spastic ataxia
West syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA302345

rs_786205598

14 SubmittersRCV000171427 RCV000509312 RCV000502114 RCV000515202 RCV000700520 RCV001265420 RCV001266353 RCV001640264 RCV003488419

NM_014363.6(SACS):c.4076T>C (p.Met1359Thr)

SNV
Germline

Chr13:23339800

Conflicting classifications of pathogenicity

not specified
Charlevoix-Saguenay spastic ataxia
Condition: not provided
Spastic paraplegia
Hereditary spastic paraplegia
SACS-related disorder

Criteria Provided
Conflicting Classifications

CA208864

rs_146451611

16 SubmittersRCV000194599 RCV000515329 RCV000710206 RCV001082339 RCV001847803 RCV003937553

NM_014363.6(SACS):c.13717A>C (p.Asn4573His)

SNV
Germline

Chr13:23330159

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hereditary spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA239310

rs_34382952

16 SubmittersRCV000254363 RCV000488235 RCV000515968 RCV000674768 RCV001082378

NM_014363.6(SACS):c.8133G>A (p.Ser2711=)

SNV
Germline

Chr13:23335743

Conflicting classifications of pathogenicity

Condition: not provided
Spastic paraplegia
Charlevoix-Saguenay spastic ataxia

Criteria Provided
Conflicting Classifications

CA239312

rs_143386746

5 SubmittersRCV000173859 RCV001087614 RCV001273201

NM_014363.6(SACS):c.2643G>C (p.Glu881Asp)

SNV
Germline

Chr13:23341233

Conflicting classifications of pathogenicity

Condition: not provided
Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA239314

rs_200517685

4 SubmittersRCV000173860 RCV000400126 RCV001085181

NM_014363.6(SACS):c.8414C>T (p.Thr2805Ile)

SNV
Germline

Chr13:23335462

Conflicting classifications of pathogenicity

Condition: not provided
Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA239316

rs_772742353

6 SubmittersRCV000658671 RCV001276936 RCV001852116

NM_014363.6(SACS):c.3074A>T (p.Asn1025Ile)

SNV
Germline

Chr13:23340802

Conflicting classifications of pathogenicity

Condition: not provided
Spastic paraplegia
Charlevoix-Saguenay spastic ataxia

Criteria Provided
Conflicting Classifications

CA239318

rs_150981983

6 SubmittersRCV000173863 RCV001080295 RCV001277261

NM_006612.6(KIF1C):c.2099C>T (p.Pro700Leu)

SNV
Germline

Chr17:5022180

Conflicting classifications of pathogenicity

Spastic ataxia 2
Condition: not provided
Hereditary spastic paraplegia
KIF1C-related disorder

Criteria Provided
Conflicting Classifications

CA250364

rs_148934699

9 SubmittersRCV000191099 RCV000415815 RCV001847848 RCV003917729

NM_006612.6(KIF1C):c.2734C>T (p.Arg912Trp)

SNV
Germline

Chr17:5023573

Conflicting classifications of pathogenicity

Spastic ataxia 2
Hereditary spastic paraplegia
Condition: not provided
KIF1C-related disorder

Criteria Provided
Conflicting Classifications

CA250366

rs_202232792

7 SubmittersRCV000191100 RCV000516061 RCV000859538 RCV003917730

NM_014946.4(SPAST):c.1735A>C (p.Asn579His)

SNV
Germline

Chr2:32154380

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hereditary spastic paraplegia 4
Spastic paraplegia
Spastic ataxia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA207191

rs_144594804

10 SubmittersRCV000193599 RCV000658865 RCV000509114 RCV001391562 RCV001640291 RCV001847874

NM_014363.6(SACS):c.10982C>T (p.Ala3661Val)

SNV
Germline

Chr13:23332894

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Charlevoix-Saguenay spastic ataxia
Spastic paraplegia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA207002

rs_36061856

11 SubmittersRCV000193480 RCV000230933 RCV000278445 RCV001079338 RCV001847870

NM_014363.6(SACS):c.10906C>T (p.Arg3636Ter)

SNV
Germline

Chr13:23332970

Pathogenic/Likely pathogenic

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA276970

rs_780247476

8 SubmittersRCV000192438 RCV000633059 RCV002517975

NM_014363.6(SACS):c.8393C>A (p.Pro2798Gln)

SNV
Germline

Chr13:23335483

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia
Condition: not provided
not specified
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA277355

rs_140551762

18 SubmittersRCV000194652 RCV000230214 RCV000513770 RCV001815246 RCV001847873

NM_014363.6(SACS):c.3427C>A (p.Gln1143Lys)

SNV
Germline

Chr13:23340449

Conflicting classifications of pathogenicity

not specified
Charlevoix-Saguenay spastic ataxia
Condition: not provided
Spastic paraplegia
Hereditary spastic paraplegia
SACS-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA207090

rs_144267558

13 SubmittersRCV000193535 RCV000338267 RCV000470007 RCV001083422 RCV001847871 RCV003907705 RCV004020340

NM_006005.3(WFS1):c.1371G>T (p.Arg457Ser)

SNV
Germline

Chr4:6301166

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Type 2 diabetes mellitus
Cataract 41
Autosomal dominant nonsyndromic hearing loss 6
Wolfram syndrome 1
Wolfram-like syndrome
Autosomal dominant nonsyndromic hearing loss 6
WFS1-Related Spectrum Disorders
Monogenic diabetes
Hearing impairment
Spastic ataxia
Inborn genetic diseases
WFS1-related disorder

Criteria Provided
Conflicting Classifications

CA320009

rs_113446173

13 SubmittersRCV000488089 RCV000603890 RCV000765780 RCV001153150 RCV001153151 RCV001174421 RCV001375054 RCV001640297 RCV004020439 RCV004530181

NM_003119.4(SPG7):c.2228T>C (p.Ile743Thr)

SNV
Germline

Chr16:89556933

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary spastic paraplegia 7
Spastic ataxia
Hereditary spastic paraplegia
SPG7-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA323349

rs_752623413

16 SubmittersRCV000198819 RCV000500664 RCV001640295 RCV001847889 RCV003401074

NM_006796.3(AFG3L2):c.2314C>T (p.Leu772Phe)

SNV
Germline

Chr18:12329645

Conflicting classifications of pathogenicity

not specified
Spinocerebellar ataxia type 28
Condition: not provided
Spastic ataxia 5

Criteria Provided
Conflicting Classifications

CA321640

rs_117182113

8 SubmittersRCV000197194 RCV000369996 RCV000488282 RCV001262989

NM_006796.3(AFG3L2):c.2167G>A (p.Val723Met)

SNV
Germline

Chr18:12337349

Conflicting classifications of pathogenicity

Condition: not provided
Spinocerebellar ataxia type 28
Spastic ataxia 5
not specified
Spinocerebellar ataxia type 28
Spastic ataxia 5
Optic atrophy 12
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA319947

rs_139469785

7 SubmittersRCV000195592 RCV001122821 RCV001640293 RCV001640294 RCV003224221 RCV002517193

NM_014363.6(SACS):c.11624G>A (p.Arg3875His)

SNV
Germline

Chr13:23332252

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Condition: not provided
Charlevoix-Saguenay spastic ataxia

Criteria Provided
Conflicting Classifications

CA351289

rs_863224916

4 SubmittersRCV001848018 RCV002305471 RCV001843500

NM_014363.6(SACS):c.4118C>T (p.Ala1373Val)

SNV
Germline

Chr13:23339758

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Charlevoix-Saguenay spastic ataxia
Spastic paraplegia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6911430

rs_61548169

6 SubmittersRCV000290021 RCV000224523 RCV001112284 RCV001084237 RCV001847949

NM_014363.6(SACS):c.12649A>G (p.Asn4217Asp)

SNV
Germline

Chr13:23331227

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Charlevoix-Saguenay spastic ataxia
Spastic paraplegia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6910119

rs_35799469

9 SubmittersRCV000224626 RCV000251185 RCV000322346 RCV001079358 RCV001847950

NM_014231.5(VAMP1):c.340+2T>G

SNV
Germline

Chr12:6464888

Pathogenic

Spastic ataxia 1
Spastic paraplegia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10583055

rs_878854975

4 SubmittersRCV000128446 RCV000233592 RCV000255544

NM_014363.6(SACS):c.12597A>G (p.Pro4199=)

SNV
Germline

Chr13:23331279

Conflicting classifications of pathogenicity

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
not specified
Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6910129

rs_112630127

7 SubmittersRCV000228765 RCV000379249 RCV000516975 RCV001560895 RCV001847972

NM_014363.6(SACS):c.11688G>A (p.Arg3896=)

SNV
Germline

Chr13:23332188

Conflicting classifications of pathogenicity

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
not specified
Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6910240

rs_116791509

7 SubmittersRCV000233808 RCV000293354 RCV000518611 RCV001563142 RCV001847971

NM_014363.6(SACS):c.10821C>A (p.Ile3607=)

SNV
Germline

Chr13:23333055

Conflicting classifications of pathogenicity

Spastic paraplegia
not specified
Charlevoix-Saguenay spastic ataxia
Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6910385

rs_113595574

7 SubmittersRCV000226968 RCV000516532 RCV001113446 RCV001689760 RCV001847970

NM_014363.6(SACS):c.10611A>G (p.Ala3537=)

SNV
Germline

Chr13:23333265

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
not specified
Condition: not provided
Spastic paraplegia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6910424

rs_137856939

8 SubmittersRCV000392205 RCV000516579 RCV000710203 RCV001079473 RCV001847969

NM_014363.6(SACS):c.9031A>G (p.Ile3011Val)

SNV
Germline

Chr13:23334845

Conflicting classifications of pathogenicity

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6910674

rs_377657177

5 SubmittersRCV000232996 RCV000295984 RCV002518350

NM_014363.6(SACS):c.8339T>G (p.Phe2780Cys)

SNV
Germline

Chr13:23335537

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Condition: not provided
Spastic paraplegia
Hereditary spastic paraplegia
not specified
SACS-related disorder

Criteria Provided
Conflicting Classifications

CA6910780

rs_111540787

12 SubmittersRCV000341299 RCV000676358 RCV001083821 RCV001847977 RCV002222460 RCV003929987

NM_014363.6(SACS):c.6781C>A (p.Leu2261Ile)

SNV
Germline

Chr13:23337095

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Condition: not provided
Spastic paraplegia
Hereditary spastic paraplegia
SACS-related disorder

Criteria Provided
Conflicting Classifications

CA6911032

rs_146722795

12 SubmittersRCV000260358 RCV000516875 RCV001081244 RCV001847976 RCV003929986

NM_014363.6(SACS):c.5848G>A (p.Asp1950Asn)

SNV
Germline

Chr13:23338028

Conflicting classifications of pathogenicity

Spastic paraplegia
Condition: not provided
Charlevoix-Saguenay spastic ataxia

Criteria Provided
Conflicting Classifications

CA6911186

rs_370902090

4 SubmittersRCV000225857 RCV000676365 RCV001578942

NM_014363.6(SACS):c.3391C>T (p.Leu1131Phe)

SNV
Germline

Chr13:23340485

Conflicting classifications of pathogenicity

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia

Criteria Provided
Conflicting Classifications

CA6911531

rs_139805032

3 SubmittersRCV000232090 RCV000988965

NM_014363.6(SACS):c.3129A>G (p.Ser1043=)

SNV
Germline

Chr13:23340747

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
not specified
Condition: not provided
Spastic paraplegia
Hereditary spastic paraplegia
SACS-related disorder

Criteria Provided
Conflicting Classifications

CA6911564

rs_148878361

13 SubmittersRCV000334685 RCV000372721 RCV000710205 RCV001082217 RCV001847975 RCV003929985

NM_014363.6(SACS):c.2988A>G (p.Leu996=)

SNV
Germline

Chr13:23340888

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6911582

rs_111846884

9 SubmittersRCV000386665 RCV000761852 RCV001086002 RCV001109613 RCV001847974

NM_014363.6(SACS):c.7528G>A (p.Ala2510Thr)

SNV
Germline

Chr13:23336348

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Hereditary spastic paraplegia
SACS-related disorder

Criteria Provided
Conflicting Classifications

CA6910891

rs_111920492

13 SubmittersRCV000243536 RCV000710207 RCV001082626 RCV001112102 RCV001848029 RCV003891946

NM_014363.6(SACS):c.171+13C>T

SNV
Germline

Chr13:23375106

Conflicting classifications of pathogenicity

not specified
Charlevoix-Saguenay spastic ataxia
Condition: not provided
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6912178

rs_374672041

5 SubmittersRCV000250510 RCV000393585 RCV001566241 RCV002058247

NM_014363.6(SACS):c.2182C>T (p.Arg728Ter)

SNV
Germline

Chr13:23353788

Pathogenic/Likely pathogenic

Condition: not provided
Abnormal brain morphology
Charlevoix-Saguenay spastic ataxia
Hereditary spastic paraplegia
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA6911751

rs_752059006

13 SubmittersRCV000393719 RCV000454220 RCV000984212 RCV001848046 RCV001859535

NM_014363.6(SACS):c.9508C>T (p.Arg3170Ter)

SNV
Germline

Chr13:23334368

Pathogenic/Likely pathogenic

Condition: not provided
Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA6910613

rs_202199411

7 SubmittersRCV000297710 RCV000411666 RCV001223182

NM_014363.6(SACS):c.9305T>A (p.Leu3102Ter)

SNV
Germline

Chr13:23334571

Pathogenic

Condition: not provided
Charlevoix-Saguenay spastic ataxia
Ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and intellectual disability
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA10603290

rs_886041949

7 SubmittersRCV000377502 RCV000762910 RCV001544509 RCV001379554

NM_014363.6(SACS):c.2996T>C (p.Ile999Thr)

SNV
Germline

Chr13:23340880

Conflicting classifications of pathogenicity

Condition: not provided
Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6911580

rs_371869943

7 SubmittersRCV000373496 RCV000681647 RCV002519084

NM_014363.6(SACS):c.1373C>T (p.Thr458Ile)

SNV
Germline

Chr13:23355239

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Condition: not provided
Spastic paraplegia
not specified
SACS-related disorder

Criteria Provided
Conflicting Classifications

CA6911923

rs_61729954

16 SubmittersRCV000516147 RCV000603816 RCV000676372 RCV001082461 RCV001844110 RCV003930065

NM_014363.6(SACS):c.3752T>C (p.Ile1251Thr)

SNV
Germline

Chr13:23340124

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
not specified
Condition: not provided
Spastic paraplegia
Hereditary spastic paraplegia
SACS-related disorder

Criteria Provided
Conflicting Classifications

CA6911480

rs_76872266

8 SubmittersRCV000269188 RCV000282202 RCV000861200 RCV001086494 RCV001848052 RCV003947857

NM_014363.6(SACS):c.7140T>A (p.Asn2380Lys)

SNV
Germline

Chr13:23336736

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6910967

rs_61754478

9 SubmittersRCV000338875 RCV000725615 RCV001079763 RCV001109417 RCV002519175

NM_014363.6(SACS):c.8022T>C (p.Phe2674=)

SNV
Germline

Chr13:23335854

Conflicting classifications of pathogenicity

Condition: not provided
Charlevoix-Saguenay spastic ataxia
Spastic paraplegia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6910829

rs_34928783

8 SubmittersRCV000512830 RCV001111636 RCV001085541 RCV001848058

NM_182961.4(SYNE1):c.25342G>A (p.Asp8448Asn)

SNV
Germline

Chr6:152140066

Conflicting classifications of pathogenicity

Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Condition: not provided
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Spastic ataxia
Autosomal recessive ataxia, Beauce type

Criteria Provided
Conflicting Classifications

CA4052865

rs_139679692

6 SubmittersRCV000524861 RCV000713650 RCV001335277 RCV001642887 RCV003992260

NM_014363.6(SACS):c.10274A>G (p.Lys3425Arg)

SNV
Germline

Chr13:23333602

Conflicting classifications of pathogenicity

not specified
Charlevoix-Saguenay spastic ataxia
Spastic paraplegia
SACS-related disorder

Criteria Provided
Conflicting Classifications

CA6910476

rs_147317123

7 SubmittersRCV000329092 RCV000327882 RCV001082514 RCV003967757

NM_014363.6(SACS):c.6240T>C (p.Val2080=)

SNV
Germline

Chr13:23337636

Conflicting classifications of pathogenicity

Condition: not provided
Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
not specified

Criteria Provided
Conflicting Classifications

CA6911113

rs_550680855

6 SubmittersRCV000676363 RCV001086386 RCV001111737 RCV001706417

NM_014363.6(SACS):c.1917A>G (p.Ala639=)

SNV
Germline

Chr13:23354695

Conflicting classifications of pathogenicity

Condition: not provided
Spastic paraplegia
not specified
Charlevoix-Saguenay spastic ataxia

Criteria Provided
Conflicting Classifications

CA6911818

rs_138457742

4 SubmittersRCV000710204 RCV001078709 RCV001283505 RCV001782774

NM_014363.6(SACS):c.1066A>C (p.Ile356Leu)

SNV
Germline

Chr13:23355546

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
SACS-related disorder

Criteria Provided
Conflicting Classifications

CA6911977

rs_148286091

8 SubmittersRCV000392351 RCV000676373 RCV001083937 RCV001782775 RCV003957483

NM_014363.6(SACS):c.9852A>G (p.Thr3284=)

SNV
Germline

Chr13:23334024

Conflicting classifications of pathogenicity

Condition: not provided
Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
not specified

Criteria Provided
Conflicting Classifications

CA6910551

rs_147506904

5 SubmittersRCV000281392 RCV001089187 RCV001113530 RCV001288380

NM_014363.6(SACS):c.11703T>C (p.Asn3901=)

SNV
Germline

Chr13:23332173

Conflicting classifications of pathogenicity

Condition: not provided
Spastic paraplegia
Hereditary spastic paraplegia
Charlevoix-Saguenay spastic ataxia

Criteria Provided
Conflicting Classifications

CA6910237

rs_146154135

5 SubmittersRCV000313782 RCV001089271 RCV001848062 RCV001782776

NM_014363.6(SACS):c.6008A>T (p.Asp2003Val)

SNV
Germline

Chr13:23337868

Conflicting classifications of pathogenicity

Condition: not provided
Charlevoix-Saguenay spastic ataxia
Spastic paraplegia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6911152

rs_537408260

6 SubmittersRCV000390861 RCV000401468 RCV001087895 RCV001848064

NM_014363.6(SACS):c.13036G>A (p.Asp4346Asn)

SNV
Germline

Chr13:23330840

Conflicting classifications of pathogenicity

Condition: not provided
Charlevoix-Saguenay spastic ataxia
Spastic paraplegia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6910032

rs_372359781

8 SubmittersRCV000337604 RCV000765117 RCV002522028 RCV004021306

NM_014363.6(SACS):c.4279C>A (p.Pro1427Thr)

SNV
Germline

Chr13:23339597

Conflicting classifications of pathogenicity

Condition: not provided
Spastic paraplegia
Charlevoix-Saguenay spastic ataxia

Criteria Provided
Conflicting Classifications

CA6911409

rs_527513599

3 SubmittersRCV000333351 RCV001089050 RCV001782779

NM_014363.6(SACS):c.10896A>G (p.Ile3632Met)

SNV
Germline

Chr13:23332980

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
not specified
Spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6910375

rs_35256065

8 SubmittersRCV000392204 RCV000518679 RCV000633069 RCV001573868

NM_014363.6(SACS):c.8379G>A (p.Gln2793=)

SNV
Germline

Chr13:23335497

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6910769

rs_776028181

2 SubmittersRCV000390354 RCV002056364

NM_014363.6(SACS):c.7527T>C (p.Tyr2509=)

SNV
Germline

Chr13:23336349

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
not specified
Spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6910892

rs_140034972

7 SubmittersRCV000275588 RCV000712990 RCV001083438 RCV001725163

NM_014363.6(SACS):c.6634A>G (p.Thr2212Ala)

SNV
Germline

Chr13:23337242

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Inborn genetic diseases
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6911051

rs_556248979

5 SubmittersRCV000282675 RCV002520866 RCV000691162

NM_014363.6(SACS):c.6577G>A (p.Asp2193Asn)

SNV
Germline

Chr13:23337299

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6911059

rs_149278134

2 SubmittersRCV000321278 RCV002522276

NM_014363.6(SACS):c.6059G>A (p.Gly2020Glu)

SNV
Germline

Chr13:23337817

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
not specified
Spastic paraplegia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6911144

rs_747566710

6 SubmittersRCV000347234 RCV000517759 RCV000699474 RCV004021565

NM_014363.6(SACS):c.5932G>A (p.Val1978Ile)

SNV
Germline

Chr13:23337944

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Condition: not provided
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6911169

rs_373812430

4 SubmittersRCV000312333 RCV000995036 RCV002522277

NM_014363.6(SACS):c.5930A>G (p.Lys1977Arg)

SNV
Germline

Chr13:23337946

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6911170

rs_774492331

4 SubmittersRCV000350600 RCV000550324

NM_014363.6(SACS):c.5302C>T (p.His1768Tyr)

SNV
Germline

Chr13:23338574

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6911269

rs_758381112

2 SubmittersRCV000297039 RCV002520867

NM_014363.6(SACS):c.4302A>G (p.Leu1434=)

SNV
Germline

Chr13:23339574

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
not specified
Spastic paraplegia
Condition: not provided
Hereditary spastic paraplegia
SACS-related disorder

Criteria Provided
Conflicting Classifications

CA6911407

rs_34559250

9 SubmittersRCV000357802 RCV000517025 RCV000864699 RCV001171670 RCV001848102 RCV003910159

NM_014363.6(SACS):c.3345C>T (p.Val1115=)

SNV
Germline

Chr13:23340531

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia
not specified

Criteria Provided
Conflicting Classifications

CA6911535

rs_143287019

5 SubmittersRCV000374188 RCV000860788 RCV001660627

NM_014363.6(SACS):c.3042A>G (p.Leu1014=)

SNV
Germline

Chr13:23340834

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Condition: not provided
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6911574

rs_141982796

4 SubmittersRCV000399926 RCV000992787 RCV001416952

NM_014363.6(SACS):c.2497G>A (p.Glu833Lys)

SNV
Germline

Chr13:23341379

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6911678

rs_143433500

5 SubmittersRCV000309988 RCV000529780 RCV000517722

NM_014363.6(SACS):c.1278A>T (p.Leu426Phe)

SNV
Germline

Chr13:23355334

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6911935

rs_138413501

5 SubmittersRCV000372498 RCV001060561

NM_014363.6(SACS):c.1081A>G (p.Lys361Glu)

SNV
Germline

Chr13:23355531

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Condition: not provided
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6911975

rs_377027736

4 SubmittersRCV000293298 RCV000992772 RCV001500911

NM_014363.6(SACS):c.944A>G (p.Asp315Gly)

SNV
Germline

Chr13:23355668

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6912001

rs_771115225

3 SubmittersRCV000289676 RCV002520873

NM_014363.6(SACS):c.11792A>G (p.Lys3931Arg)

SNV
Germline

Chr13:23332084

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6910218

rs_764554878

3 SubmittersRCV000385354 RCV003750783

NM_014363.6(SACS):c.10064T>G (p.Ile3355Arg)

SNV
Germline

Chr13:23333812

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6910515

rs_372488932

2 SubmittersRCV000273799 RCV003750784

NM_014363.6(SACS):c.8577C>T (p.His2859=)

SNV
Germline

Chr13:23335299

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Condition: not provided
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6910746

rs_140016265

6 SubmittersRCV000338040 RCV000676357 RCV001088324

NM_014363.6(SACS):c.7165G>A (p.Val2389Met)

SNV
Germline

Chr13:23336711

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia
not specified
SACS-related disorder

Criteria Provided
Conflicting Classifications

CA6910961

rs_142869943

6 SubmittersRCV000332938 RCV000863318 RCV001287913 RCV003930329

NM_014363.6(SACS):c.6069C>T (p.Asn2023=)

SNV
Germline

Chr13:23337807

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia
not specified
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6911143

rs_35369023

6 SubmittersRCV000289978 RCV000861552 RCV001660626 RCV001848100

NM_014363.6(SACS):c.5841C>T (p.Pro1947=)

SNV
Germline

Chr13:23338035

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Condition: not provided
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6911189

rs_145371235

5 SubmittersRCV000392069 RCV000868830 RCV001081266

NM_014363.6(SACS):c.4117G>C (p.Ala1373Pro)

SNV
Germline

Chr13:23339759

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6911431

rs_61326562

5 SubmittersRCV000323040 RCV000884011 RCV001848103

NM_014363.6(SACS):c.3144A>G (p.Val1048=)

SNV
Germline

Chr13:23340732

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Condition: not provided
Spastic paraplegia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6911561

rs_3751369

6 SubmittersRCV000279611 RCV000712974 RCV001081930 RCV001848104

NM_014363.6(SACS):c.2788A>G (p.Ile930Val)

SNV
Germline

Chr13:23341088

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10639237

rs_886050088

5 SubmittersRCV000313588 RCV000700339 RCV003165837

NM_014363.6(SACS):c.2487C>T (p.Asp829=)

SNV
Germline

Chr13:23341389

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6911682

rs_151198216

4 SubmittersRCV000364679 RCV000867241

NM_014363.6(SACS):c.1640C>T (p.Pro547Leu)

SNV
Germline

Chr13:23354972

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6911879

rs_140507581

3 SubmittersRCV000375874 RCV002520870

NM_014363.6(SACS):c.1066A>G (p.Ile356Val)

SNV
Germline

Chr13:23355546

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Condition: not provided
Hereditary spastic paraplegia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6911978

rs_148286091

6 SubmittersRCV000348179 RCV001660628 RCV001848108 RCV002522279

NM_014363.6(SACS):c.12438G>A (p.Ser4146=)

SNV
Germline

Chr13:23331438

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia
Hereditary spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6910143

rs_150959878

5 SubmittersRCV000268383 RCV000861751 RCV001848096 RCV003992276

NM_014363.6(SACS):c.12216T>A (p.Thr4072=)

SNV
Germline

Chr13:23331660

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
not specified
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6910164

rs_574182225

5 SubmittersRCV000382122 RCV000518146 RCV000865044

NM_014363.6(SACS):c.12063T>C (p.His4021=)

SNV
Germline

Chr13:23331813

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA10643105

rs_886050074

2 SubmittersRCV000290073 RCV002056363

NM_014363.6(SACS):c.11928T>C (p.Ser3976=)

SNV
Germline

Chr13:23331948

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6910201

rs_145680118

6 SubmittersRCV000347323 RCV000862657 RCV001660625 RCV003409483

NM_014363.6(SACS):c.11409G>T (p.Trp3803Cys)

SNV
Germline

Chr13:23332467

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10643107

rs_886050075

3 SubmittersRCV000350663 RCV002520863 RCV004021564

NM_014363.6(SACS):c.10443C>G (p.Leu3481=)

SNV
Germline

Chr13:23333433

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia
Condition: not provided
not specified
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6910450

rs_144087359

9 SubmittersRCV000361442 RCV000862081 RCV001288370 RCV001723893 RCV001848097

NM_014363.6(SACS):c.8056C>T (p.Leu2686=)

SNV
Germline

Chr13:23335820

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA10643113

rs_748595405

2 SubmittersRCV000401979 RCV002520864

NM_014363.6(SACS):c.7647T>G (p.Leu2549=)

SNV
Germline

Chr13:23336229

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6910879

rs_186301471

5 SubmittersRCV000310623 RCV000865836 RCV001848098

NM_014363.6(SACS):c.6561C>T (p.Ile2187=)

SNV
Germline

Chr13:23337315

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6911064

rs_143477126

4 SubmittersRCV000378234 RCV000863703

NM_014363.6(SACS):c.5222C>T (p.Thr1741Ile)

SNV
Germline

Chr13:23338654

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6911277

rs_201724656

5 SubmittersRCV000354216 RCV000876841 RCV001848101

NM_014363.6(SACS):c.3868G>T (p.Ala1290Ser)

SNV
Germline

Chr13:23340008

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
not specified
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6911463

rs_757939935

4 SubmittersRCV000379945 RCV000501904 RCV002520869

NM_014363.6(SACS):c.3545C>T (p.Ala1182Val)

SNV
Germline

Chr13:23340331

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6911512

rs_373859681

2 SubmittersRCV000283262 RCV002522278

NM_014363.6(SACS):c.1608G>A (p.Pro536=)

SNV
Germline

Chr13:23355004

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6911885

rs_745730439

2 SubmittersRCV000262582 RCV001504466

NM_014363.6(SACS):c.1463C>T (p.Pro488Leu)

SNV
Germline

Chr13:23355149

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia
Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6911912

rs_375875022

6 SubmittersRCV000317718 RCV000464896 RCV000712962 RCV001848106

NM_014363.6(SACS):c.1224C>T (p.Asp408=)

SNV
Germline

Chr13:23355388

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Condition: not provided
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6911949

rs_2274386

5 SubmittersRCV000296723 RCV000862553 RCV001079181

NM_014363.6(SACS):c.47G>T (p.Gly16Val)

SNV
Germline

Chr13:23375243

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Condition: not provided
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA10643120

rs_886050090

5 SubmittersRCV000260394 RCV000712975 RCV002520874

NM_014363.6(SACS):c.-219A>G

SNV
Germline

Chr13:23411458

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10643121

rs_74495070

3 SubmittersRCV000385634 RCV001559393

NM_014363.6(SACS):c.10716C>G (p.Pro3572=)

SNV
Germline

Chr13:23333160

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA10644019

rs_886050077

3 SubmittersRCV000300713 RCV001493823

NM_014363.6(SACS):c.10576A>G (p.Ile3526Val)

SNV
Germline

Chr13:23333300

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6910428

rs_199881455

3 SubmittersRCV000304456 RCV001504069

NM_014363.6(SACS):c.9887C>T (p.Pro3296Leu)

SNV
Germline

Chr13:23333989

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6910546

rs_779195622

2 SubmittersRCV000388007 RCV003588614

NM_014363.6(SACS):c.8990G>A (p.Arg2997Gln)

SNV
Germline

Chr13:23334886

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6910682

rs_139670073

4 SubmittersRCV000315960 RCV001411302

NM_014363.6(SACS):c.8022T>G (p.Phe2674Leu)

SNV
Germline

Chr13:23335854

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
not specified
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6910830

rs_34928783

5 SubmittersRCV000306392 RCV000516257 RCV001477679

NM_014363.6(SACS):c.7713A>T (p.Pro2571=)

SNV
Germline

Chr13:23336163

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6910868

rs_557113294

4 SubmittersRCV000406766 RCV002056365

NM_014363.6(SACS):c.6952G>A (p.Ala2318Thr)

SNV
Germline

Chr13:23336924

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Condition: not provided
Spastic paraplegia
Spastic ataxia
Hereditary spastic paraplegia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6910993

rs_147949881

10 SubmittersRCV000371368 RCV000712986 RCV001247269 RCV001642968 RCV001848099 RCV002520865

NM_014363.6(SACS):c.4936C>A (p.Leu1646Met)

SNV
Germline

Chr13:23338940

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Condition: not provided
Spastic paraplegia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6911320

rs_200810800

7 SubmittersRCV000300780 RCV000516210 RCV001242340 RCV002520868

NM_014363.6(SACS):c.2681C>T (p.Ser894Leu)

SNV
Germline

Chr13:23341195

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Condition: not provided
Spastic paraplegia
not specified

Criteria Provided
Conflicting Classifications

CA6911646

rs_201857647

5 SubmittersRCV000349604 RCV000712971 RCV001080014 RCV001706475

NM_014363.6(SACS):c.1912T>G (p.Cys638Gly)

SNV
Germline

Chr13:23354700

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Condition: not provided
Spastic paraplegia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6911820

rs_200333323

5 SubmittersRCV000306464 RCV001288709 RCV001400059 RCV001848105

NM_014363.6(SACS):c.1728C>T (p.Tyr576=)

SNV
Germline

Chr13:23354884

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6911860

rs_750748828

4 SubmittersRCV000266493 RCV000875331

NM_014363.6(SACS):c.1219C>A (p.Leu407Ile)

SNV
Germline

Chr13:23355393

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Hereditary spastic paraplegia
Condition: not provided
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6911950

rs_201569239

4 SubmittersRCV000333051 RCV001848107 RCV002472984 RCV002520871

NM_014363.6(SACS):c.954A>G (p.Leu318=)

SNV
Germline

Chr13:23355658

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6911998

rs_147412202

2 SubmittersRCV000390104 RCV002520872

NM_014363.6(SACS):c.345+14C>T

SNV
Germline

Chr13:23368388

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6912122

rs_538944334

2 SubmittersRCV000359589 RCV003588615

NM_014363.6(SACS):c.99T>C (p.Asp33=)

SNV
Germline

Chr13:23375191

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Condition: not provided
Spastic paraplegia
not specified

Criteria Provided
Conflicting Classifications

CA6912185

rs_775206528

6 SubmittersRCV000355437 RCV000863241 RCV001083423 RCV001288381

NM_173500.4(TTBK2):c.595C>T (p.Arg199Trp)

SNV
Germline

Chr15:42817040

Conflicting classifications of pathogenicity

Spinocerebellar ataxia type 11
Condition: not provided
Spastic ataxia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7517435

rs_200125366

5 SubmittersRCV000400925 RCV001357218 RCV001642984 RCV002522790

NM_014363.6(SACS):c.13132C>T (p.Arg4378Ter)

SNV
Germline

Chr13:23330744

Pathogenic/Likely pathogenic

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA16041597

rs_747868017

3 SubmittersRCV000410263 RCV001865265

NM_014363.6(SACS):c.11374C>T (p.Arg3792Ter)

SNV
Germline

Chr13:23332502

Pathogenic

Charlevoix-Saguenay spastic ataxia
Condition: not provided
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA16041601

rs_565203731

8 SubmittersRCV000411243 RCV001310676 RCV003766121

NM_014363.6(SACS):c.11185C>T (p.Gln3729Ter)

SNV
Unknown

Chr13:23332691

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

CA16041602

rs_1057516398

1 SubmittersRCV000409109

NM_014363.6(SACS):c.10864C>T (p.Gln3622Ter)

SNV
Unknown

Chr13:23333012

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

CA16041604

rs_1057516578

1 SubmittersRCV000412194

NM_014363.6(SACS):c.10804C>T (p.Gln3602Ter)

SNV
Germline

Chr13:23333072

Pathogenic/Likely pathogenic

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA16041606

rs_1057517002

3 SubmittersRCV000411733 RCV001861386

NM_014363.6(SACS):c.10497C>A (p.Tyr3499Ter)

SNV
Germline

Chr13:23333379

Pathogenic/Likely pathogenic

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA16041607

rs_755186798

2 SubmittersRCV000409179 RCV001861363

NM_014363.6(SACS):c.10136T>G (p.Leu3379Ter)

SNV
Germline

Chr13:23333740

Pathogenic/Likely pathogenic

Charlevoix-Saguenay spastic ataxia
Condition: not provided
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA16041608

rs_1057517250

7 SubmittersRCV000412241 RCV000992769 RCV001861393

NM_014363.6(SACS):c.8867T>A (p.Leu2956Ter)

SNV
Unknown

Chr13:23335009

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

CA16041614

rs_1057516853

1 SubmittersRCV000411855

NM_014363.6(SACS):c.7861C>T (p.Gln2621Ter)

SNV
Unknown

Chr13:23336015

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

CA16041617

rs_1057517014

1 SubmittersRCV000408978

NM_014363.6(SACS):c.7394C>A (p.Ser2465Ter)

SNV
Unknown

Chr13:23336482

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

CA16041621

rs_747676277

1 SubmittersRCV000411674

NM_014363.6(SACS):c.7273C>T (p.Arg2425Ter)

SNV
Germline

Chr13:23336603

Pathogenic/Likely pathogenic

Charlevoix-Saguenay spastic ataxia
Condition: not provided
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA6910940

rs_145766983

6 SubmittersRCV000412060 RCV000599123 RCV000704868

NM_014363.6(SACS):c.5629C>T (p.Arg1877Ter)

SNV
Germline

Chr13:23338247

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Hereditary spastic paraplegia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6911218

rs_761089024

5 SubmittersRCV000409299 RCV000515938 RCV001865273

NM_014363.6(SACS):c.5469C>A (p.Cys1823Ter)

SNV
Unknown

Chr13:23338407

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

CA16041631

rs_1057517172

1 SubmittersRCV000409004

NM_014363.6(SACS):c.5125C>T (p.Gln1709Ter)

SNV
Germline

Chr13:23338751

Pathogenic

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA16041633

rs_1057517311

6 SubmittersRCV000412006 RCV001224413

NM_014363.6(SACS):c.4298G>A (p.Trp1433Ter)

SNV
Unknown

Chr13:23339578

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

CA16041638

rs_1057516930

1 SubmittersRCV000410424

NM_014363.6(SACS):c.4095G>A (p.Trp1365Ter)

SNV
Germline

Chr13:23339781

Pathogenic/Likely pathogenic

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA16041639

rs_1057516779

4 SubmittersRCV000412449 RCV003588623

NM_014363.6(SACS):c.2957T>A (p.Leu986Ter)

SNV
Unknown

Chr13:23340919

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

CA6911585

rs_766457071

1 SubmittersRCV000409140

NM_014363.6(SACS):c.2330C>A (p.Ser777Ter)

SNV
Unknown

Chr13:23341546

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

CA16041647

rs_1057517437

1 SubmittersRCV000409346

NM_014363.6(SACS):c.2224C>T (p.Arg742Ter)

SNV
Germline

Chr13:23341652

Pathogenic/Likely pathogenic

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA16041648

rs_1057517285

2 SubmittersRCV000412381 RCV002523873

NM_014363.6(SACS):c.2186-2A>G

SNV
Unknown

Chr13:23341692

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

CA16041649

rs_1057516554

1 SubmittersRCV000410645

NM_014363.6(SACS):c.1A>G (p.Met1Val)

SNV
Unknown

Chr13:23411239

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

CA6912209

rs_771943685

1 SubmittersRCV000409645

NM_014363.6(SACS):c.13538G>A (p.Ser4513Asn)

SNV
Germline

Chr13:23330338

Conflicting classifications of pathogenicity

not specified
Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6909946

rs_138328181

3 SubmittersRCV000413289 RCV001274915 RCV002523949

NM_014363.6(SACS):c.11884A>T (p.Ile3962Leu)

SNV
Germline

Chr13:23331992

Conflicting classifications of pathogenicity

not specified
Spastic paraplegia
Charlevoix-Saguenay spastic ataxia

Criteria Provided
Conflicting Classifications

CA6910211

rs_746953932

5 SubmittersRCV000413922 RCV000863721 RCV001111441

NM_003560.4(PLA2G6):c.209G>A (p.Arg70Gln)

SNV
Germline

Chr22:38169218

Conflicting classifications of pathogenicity

Condition: not provided
PLA2G6-associated neurodegeneration
Spastic ataxia
Infantile neuroaxonal dystrophy

Criteria Provided
Conflicting Classifications

CA10231350

rs_11570607

4 SubmittersRCV000416070 RCV001144722 RCV001643138 RCV001865303

NM_006796.3(AFG3L2):c.1951A>G (p.Arg651Gly)

SNV
Germline

Chr18:12340230

Likely pathogenic

Spastic ataxia 5

No Assertion Criteria Provided

CA16043984

rs_764254189

1 SubmittersRCV000415684

NM_014363.6(SACS):c.5842G>A (p.Asp1948Asn)

SNV
Germline

Chr13:23338034

Conflicting classifications of pathogenicity

Condition: not provided
Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6911188

rs_772515267

3 SubmittersRCV000434730 RCV001828396 RCV001851025

NM_016035.5(COQ4):c.402+1G>C

SNV
Germline

Chr9:128325882

Pathogenic/Likely pathogenic

Condition: not provided
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
COQ4-related disorder
Spastic ataxia 10, autosomal recessive

Criteria Provided
Multiple Submitters
No Conflicts

CA5260544

rs_747779231

4 SubmittersRCV000445097 RCV000845241 RCV003409591 RCV003482255

NM_006612.6(KIF1C):c.1365C>T (p.Asn455=)

SNV
Germline

Chr17:5007292

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Spastic ataxia 2
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA8318954

rs_142825776

4 SubmittersRCV000421127 RCV001311102 RCV001451575 RCV001848778

NM_006612.6(KIF1C):c.1666+5T>C

SNV
Germline

Chr17:5014842

Conflicting classifications of pathogenicity

not specified
Spastic ataxia 2

Criteria Provided
Conflicting Classifications

CA16607740

rs_1057523116

2 SubmittersRCV000436674 RCV002526347

NM_014363.6(SACS):c.7991G>T (p.Gly2664Val)

SNV
Germline

Chr13:23335885

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

CA16609396

rs_1060499656

1 SubmittersRCV000449537

NM_014363.6(SACS):c.9404T>C (p.Leu3135Ser)

SNV
Germline

Chr13:23334472

Conflicting classifications of pathogenicity

Spastic paraplegia
Condition: not provided
Charlevoix-Saguenay spastic ataxia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6910624

rs_371019314

6 SubmittersRCV000463355 RCV000712993 RCV001782958 RCV001848816

NM_014363.6(SACS):c.8245A>G (p.Ile2749Val)

SNV
Germline

Chr13:23335631

Conflicting classifications of pathogenicity

Spastic paraplegia
Condition: not provided
Charlevoix-Saguenay spastic ataxia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6910801

rs_186436335

5 SubmittersRCV000473308 RCV000594324 RCV000765121 RCV001848817

NM_014363.6(SACS):c.11707C>T (p.Arg3903Ter)

SNV
Germline

Chr13:23332169

Pathogenic

Spastic paraplegia
Inborn genetic diseases
Charlevoix-Saguenay spastic ataxia

Criteria Provided
Multiple Submitters
No Conflicts

CA6910236

rs_774906736

5 SubmittersRCV000458276 RCV000624366 RCV001785620

NM_014363.6(SACS):c.1033C>T (p.Arg345Trp)

SNV
Germline

Chr13:23355579

Conflicting classifications of pathogenicity

Condition: not provided
Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6911986

rs_776156836

6 SubmittersRCV000519338 RCV000466492 RCV001271972 RCV004022883

NM_014363.6(SACS):c.10954C>A (p.Pro3652Thr)

SNV
Germline

Chr13:23332922

Conflicting classifications of pathogenicity

Spastic paraplegia
Condition: not provided
Charlevoix-Saguenay spastic ataxia

Criteria Provided
Conflicting Classifications

CA6910364

rs_201505036

4 SubmittersRCV000466695 RCV001288373 RCV001833594

NM_006612.6(KIF1C):c.646C>T (p.Arg216Cys)

SNV
Germline

Chr17:5002768

Likely pathogenic

Condition: not provided
Spastic ataxia 2

Criteria Provided
Single Submitter

CA16620467

rs_1064796693

2 SubmittersRCV000485547 RCV000985162

NM_006612.6(KIF1C):c.1111G>A (p.Ala371Thr)

SNV
Germline

Chr17:5004946

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Hereditary spastic paraplegia
Spastic ataxia 2

Criteria Provided
Conflicting Classifications

CA8318865

rs_142056835

5 SubmittersRCV000487792 RCV000497507 RCV000516075 RCV001079974

NM_006612.6(KIF1C):c.2299G>A (p.Gly767Arg)

SNV
Germline

Chr17:5022380

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Condition: not provided
Spastic ataxia 2
KIF1C-related disorder

Criteria Provided
Conflicting Classifications

CA8319262

rs_118037269

6 SubmittersRCV000516023 RCV000645370 RCV001085955 RCV003915341

NM_006612.6(KIF1C):c.866A>C (p.Gln289Pro)

SNV
Germline

Chr17:5003999

Conflicting classifications of pathogenicity

Condition: not provided
Spastic ataxia 2
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA8318771

rs_146872023

4 SubmittersRCV000488299 RCV001085446 RCV001848856

NM_014363.6(SACS):c.11737G>C (p.Asp3913His)

SNV
Germline

Chr13:23332139

Conflicting classifications of pathogenicity

Condition: not provided
Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6910228

rs_746782589

3 SubmittersRCV000494097 RCV001829412 RCV002527093

NM_177400.3(NKX6-2):c.121A>T (p.Lys41Ter)

SNV
Germline

Chr10:132785828

Pathogenic

Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA378772049

rs_1131692047

5 SubmittersRCV000494722

NM_177400.3(NKX6-2):c.487C>G (p.Leu163Val)

SNV
Germline

Chr10:132785372

Pathogenic

Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA378769959

rs_1131692048

6 SubmittersRCV000494724

NM_014363.6(SACS):c.4900G>C (p.Glu1634Gln)

SNV
Germline

Chr13:23338976

Conflicting classifications of pathogenicity

not specified
Charlevoix-Saguenay spastic ataxia
Spastic paraplegia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6911327

rs_143961484

6 SubmittersRCV000503684 RCV000765124 RCV000551798 RCV001848875

NM_006612.6(KIF1C):c.3272G>A (p.Arg1091His)

SNV
Germline

Chr17:5024111

Conflicting classifications of pathogenicity

not specified
Spastic ataxia 2
KIF1C-related disorder

Criteria Provided
Conflicting Classifications

CA8319527

rs_201800868

3 SubmittersRCV000502000 RCV000953949 RCV003902779

NM_014363.6(SACS):c.5732C>T (p.Thr1911Met)

SNV
Germline

Chr13:23338144

Conflicting classifications of pathogenicity

Condition: not provided
Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6911204

rs_368494148

7 SubmittersRCV000513129 RCV001275193 RCV002527402

NM_006612.6(KIF1C):c.1165+4G>A

SNV
Germline

Chr17:5005004

Conflicting classifications of pathogenicity

Condition: not provided
Spastic ataxia 2
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA8318879

rs_192489748

5 SubmittersRCV000514056 RCV001080394 RCV001848880

NM_014363.6(SACS):c.13269A>T (p.Ser4423=)

SNV
Germline

Chr13:23330607

Conflicting classifications of pathogenicity

not specified
Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA483157685

rs_1180908312

3 SubmittersRCV000517276 RCV001783016 RCV001430724

NM_014363.6(SACS):c.13039A>G (p.Ile4347Val)

SNV
Germline

Chr13:23330837

Conflicting classifications of pathogenicity

not specified
Spastic paraplegia
Charlevoix-Saguenay spastic ataxia

Criteria Provided
Conflicting Classifications

CA6910031

rs_200939906

3 SubmittersRCV000516513 RCV001412104 RCV001783015

NM_014363.6(SACS):c.10622A>G (p.Tyr3541Cys)

SNV
Germline

Chr13:23333254

Conflicting classifications of pathogenicity

Condition: not provided
Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6910422

rs_747013127

3 SubmittersRCV000517352 RCV001829472 RCV002525070

NM_014363.6(SACS):c.10118C>T (p.Thr3373Ile)

SNV
Germline

Chr13:23333758

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6910502

rs_200591364

4 SubmittersRCV000517432 RCV000676353 RCV001834668 RCV002527516

NM_014363.6(SACS):c.9550C>T (p.Arg3184Cys)

SNV
Germline

Chr13:23334326

Conflicting classifications of pathogenicity

not specified
Spastic paraplegia
Charlevoix-Saguenay spastic ataxia

Criteria Provided
Conflicting Classifications

CA6910606

rs_143557803

5 SubmittersRCV000518073 RCV000560872 RCV001113533

NM_014363.6(SACS):c.9173T>G (p.Leu3058Arg)

SNV
Germline

Chr13:23334703

Conflicting classifications of pathogenicity

not specified
Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6910654

rs_758654165

3 SubmittersRCV000516989 RCV001829476 RCV002525076

NM_014363.6(SACS):c.8972G>A (p.Arg2991His)

SNV
Germline

Chr13:23334904

Conflicting classifications of pathogenicity

Condition: not provided
Charlevoix-Saguenay spastic ataxia
Spastic paraplegia
not specified
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6910684

rs_192610957

6 SubmittersRCV000518535 RCV000765119 RCV001085517 RCV001644612 RCV001848898

NM_014363.6(SACS):c.8971C>T (p.Arg2991Cys)

SNV
Germline

Chr13:23334905

Conflicting classifications of pathogenicity

not specified
Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6910685

rs_759112797

3 SubmittersRCV000517800 RCV001834673 RCV003588642

NM_014363.6(SACS):c.8315G>C (p.Gly2772Ala)

SNV
Germline

Chr13:23335561

Conflicting classifications of pathogenicity

not specified
Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6910788

rs_763504656

5 SubmittersRCV000516833 RCV000765120 RCV002525074

NM_014363.6(SACS):c.6336A>C (p.Arg2112Ser)

SNV
Germline

Chr13:23337540

Conflicting classifications of pathogenicity

Spastic paraplegia
Condition: not provided
Charlevoix-Saguenay spastic ataxia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6911101

rs_80132141

5 SubmittersRCV001080771 RCV000517696 RCV001111736 RCV001848895

NM_014363.6(SACS):c.6266C>T (p.Ser2089Leu)

SNV
Germline

Chr13:23337610

Conflicting classifications of pathogenicity

Condition: not provided
Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6911108

rs_370095300

3 SubmittersRCV000516945 RCV001276938 RCV002527521

NM_014363.6(SACS):c.6084A>T (p.Glu2028Asp)

SNV
Germline

Chr13:23337792

Conflicting classifications of pathogenicity

not specified
Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6911139

rs_149018756

3 SubmittersRCV000518824 RCV001276939 RCV002060257

NM_014363.6(SACS):c.6051G>C (p.Lys2017Asn)

SNV
Germline

Chr13:23337825

Conflicting classifications of pathogenicity

Condition: not provided
Charlevoix-Saguenay spastic ataxia
Hereditary spastic paraplegia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6911147

rs_35865691

6 SubmittersRCV000516670 RCV001112183 RCV001848894 RCV001082654

NM_014363.6(SACS):c.6030G>T (p.Lys2010Asn)

SNV
Germline

Chr13:23337846

Conflicting classifications of pathogenicity

not specified
Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
SACS-related disorder

Criteria Provided
Conflicting Classifications

CA6911148

rs_769751841

5 SubmittersRCV000518243 RCV000803901 RCV001783017 RCV003960224

NM_014363.6(SACS):c.5583G>C (p.Trp1861Cys)

SNV
Germline

Chr13:23338293

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Condition: not provided
Inborn genetic diseases
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6911227

rs_140678034

4 SubmittersRCV001276941 RCV002473033 RCV002525073 RCV002527519

NM_014363.6(SACS):c.5419G>A (p.Glu1807Lys)

SNV
Germline

Chr13:23338457

Conflicting classifications of pathogenicity

not specified
Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
SACS-related disorder

Criteria Provided
Conflicting Classifications

CA6911250

rs_375805688

5 SubmittersRCV000516475 RCV000863881 RCV001109527 RCV003900079

NM_014363.6(SACS):c.5391G>C (p.Lys1797Asn)

SNV
Germline

Chr13:23338485

Conflicting classifications of pathogenicity

Condition: not provided
Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6911253

rs_144715822

4 SubmittersRCV000518362 RCV001109528 RCV001433538

NM_014363.6(SACS):c.4612A>G (p.Ile1538Val)

SNV
Germline

Chr13:23339264

Conflicting classifications of pathogenicity

not specified
Spastic paraplegia
Charlevoix-Saguenay spastic ataxia

Criteria Provided
Conflicting Classifications

CA6911368

rs_544249449

4 SubmittersRCV000518100 RCV000547323 RCV001275196

NM_014363.6(SACS):c.2926C>A (p.Arg976Ser)

SNV
Germline

Chr13:23340950

Conflicting classifications of pathogenicity

Condition: not provided
Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Hereditary spastic paraplegia
not specified
SACS-related disorder

Criteria Provided
Conflicting Classifications

CA6911590

rs_139993038

9 SubmittersRCV000516574 RCV001081341 RCV001109615 RCV001848892 RCV001644611 RCV003905307

NM_014363.6(SACS):c.2602A>G (p.Ile868Val)

SNV
Germline

Chr13:23341274

Conflicting classifications of pathogenicity

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Condition: not provided
Inborn genetic diseases
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6911659

rs_142284018

7 SubmittersRCV000820462 RCV001111916 RCV000518481 RCV002525072 RCV001848891

NM_014363.6(SACS):c.1885G>A (p.Ala629Thr)

SNV
Germline

Chr13:23354727

Conflicting classifications of pathogenicity

Condition: not provided
Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Inborn genetic diseases
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6911833

rs_149638449

7 SubmittersRCV000518207 RCV001083870 RCV001113726 RCV002525071 RCV001848890

NM_014363.6(SACS):c.1519A>G (p.Thr507Ala)

SNV
Germline

Chr13:23355093

Conflicting classifications of pathogenicity

not specified
Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6911906

rs_372022664

4 SubmittersRCV000518256 RCV001271971 RCV001409443

NM_014363.6(SACS):c.973G>A (p.Gly325Arg)

SNV
Germline

Chr13:23355639

Conflicting classifications of pathogenicity

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6911994

rs_144303334

5 SubmittersRCV001083131 RCV001112021 RCV000518798

NM_014363.6(SACS):c.810T>G (p.Phe270Leu)

SNV
Germline

Chr13:23355802

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Hereditary spastic paraplegia
SACS-related disorder

Criteria Provided
Conflicting Classifications

CA6912021

rs_116907814

9 SubmittersRCV000517365 RCV000728923 RCV001085212 RCV001112465 RCV001848897 RCV003962434

NM_014363.6(SACS):c.134C>T (p.Pro45Leu)

SNV
Germline

Chr13:23375156

Conflicting classifications of pathogenicity

not specified
Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA13805936

rs_1033188876

3 SubmittersRCV000518000 RCV001835834 RCV002527517

NM_014363.6(SACS):c.4232T>G (p.Leu1411Ter)

SNV
Germline

Chr13:23339644

Pathogenic

Condition: not provided
Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA387531824

rs_867249938

5 SubmittersRCV000521561 RCV000984213 RCV001064306

NM_014363.6(SACS):c.1607C>T (p.Pro536Leu)

SNV
Germline

Chr13:23355005

Conflicting classifications of pathogenicity

Condition: not provided
Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA387547599

rs_1440541889

6 SubmittersRCV000523535 RCV000674260 RCV001851489

NM_014363.6(SACS):c.623G>T (p.Ser208Ile)

SNV
Germline

Chr13:23355989

Conflicting classifications of pathogenicity

Condition: not provided
Charlevoix-Saguenay spastic ataxia
Spastic paraplegia
not specified

Criteria Provided
Conflicting Classifications

CA246678645

rs_911764681

5 SubmittersRCV000522663 RCV000674847 RCV001224412 RCV003323587

NM_014363.6(SACS):c.110G>A (p.Arg37His)

SNV
Germline

Chr13:23375180

Conflicting classifications of pathogenicity

Condition: not provided
Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA387554542

rs_866539724

5 SubmittersRCV000522808 RCV002525178 RCV001834696 RCV004023576

NM_006612.6(KIF1C):c.1346A>G (p.Lys449Arg)

SNV
Germline

Chr17:5007273

Conflicting classifications of pathogenicity

Condition: not provided
Spastic ataxia 2
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA8318947

rs_142046798

7 SubmittersRCV000521926 RCV001321550 RCV001848914

NM_006612.6(KIF1C):c.2920G>A (p.Asp974Asn)

SNV
Germline

Chr17:5023759

Conflicting classifications of pathogenicity

Condition: not provided
Spastic ataxia 2
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA8319435

rs_550136320

7 SubmittersRCV000523662 RCV001350123 RCV001848915

NM_016035.5(COQ4):c.370G>A (p.Gly124Ser)

SNV
Germline

Chr9:128325849

Pathogenic

Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
Spastic ataxia 10, autosomal recessive

Criteria Provided
Multiple Submitters
No Conflicts

CA5260532

rs_776825296

3 SubmittersRCV000543798 RCV003482287

NM_014363.6(SACS):c.12813T>G (p.Pro4271=)

SNV
Germline

Chr13:23331063

Conflicting classifications of pathogenicity

not specified
Charlevoix-Saguenay spastic ataxia
Condition: not provided
Spastic paraplegia
Hereditary spastic paraplegia
SACS-related disorder

Criteria Provided
Conflicting Classifications

CA6910078

rs_146376949

11 SubmittersRCV000712961 RCV001114727 RCV001529134 RCV001081835 RCV001848920 RCV003905340

NM_014363.6(SACS):c.10939G>T (p.Glu3647Ter)

SNV
Germline

Chr13:23332937

Pathogenic/Likely pathogenic

Spastic paraplegia
Condition: not provided
Charlevoix-Saguenay spastic ataxia

Criteria Provided
Multiple Submitters
No Conflicts

CA387511088

rs_1156566314

3 SubmittersRCV000549870 RCV003482277 RCV004568750

NM_014363.6(SACS):c.4744G>A (p.Asp1582Asn)

SNV
Germline

Chr13:23339132

Pathogenic/Likely pathogenic

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Hereditary spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA387527870

rs_1160357920

8 SubmittersRCV000536906 RCV000578242 RCV001848923

NM_014363.6(SACS):c.2853C>A (p.His951Gln)

SNV
Germline

Chr13:23341023

Conflicting classifications of pathogenicity

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6911606

rs_200644511

3 SubmittersRCV000558806 RCV001835846 RCV002473048

NM_014363.6(SACS):c.2234G>A (p.Arg745His)

SNV
Germline

Chr13:23341642

Conflicting classifications of pathogenicity

Condition: not provided
Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6911721

rs_143677534

6 SubmittersRCV000555876 RCV001271968 RCV001088901

NM_014363.6(SACS):c.11717C>T (p.Ala3906Val)

SNV
Germline

Chr13:23332159

Conflicting classifications of pathogenicity

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6910234

rs_375961779

4 SubmittersRCV000538311 RCV001835845 RCV002473047 RCV002527683

NM_014363.6(SACS):c.9399A>G (p.Lys3133=)

SNV
Germline

Chr13:23334477

Conflicting classifications of pathogenicity

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6910625

rs_762665640

4 SubmittersRCV000546063 RCV001274923 RCV003403262 RCV001848925

NM_014363.6(SACS):c.8693G>A (p.Arg2898His)

SNV
Germline

Chr13:23335183

Conflicting classifications of pathogenicity

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6910731

rs_201977288

3 SubmittersRCV000530318 RCV001274928 RCV002525291

NM_014363.6(SACS):c.6593T>C (p.Ile2198Thr)

SNV
Germline

Chr13:23337283

Conflicting classifications of pathogenicity

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6911056

rs_754906806

3 SubmittersRCV000532956 RCV001834758 RCV004023781

NM_014363.6(SACS):c.2551G>T (p.Val851Phe)

SNV
Germline

Chr13:23341325

Conflicting classifications of pathogenicity

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6911670

rs_756890722

3 SubmittersRCV000545527 RCV001834757 RCV001848921

NM_014363.6(SACS):c.6640C>T (p.Arg2214Cys)

SNV
Germline

Chr13:23337236

Conflicting classifications of pathogenicity

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6911049

rs_138379074

6 SubmittersRCV000538701 RCV000765122 RCV002528313 RCV003482278

NM_014363.6(SACS):c.3282C>T (p.Asn1094=)

SNV
Germline

Chr13:23340594

Conflicting classifications of pathogenicity

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6911545

rs_145499245

4 SubmittersRCV000537247 RCV001109612 RCV001848922

NM_006612.6(KIF1C):c.1136C>G (p.Ala379Gly)

SNV
Germline

Chr17:5004971

Conflicting classifications of pathogenicity

Spastic ataxia 2
Hereditary spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8318875

rs_79290524

3 SubmittersRCV000553957 RCV001848958 RCV002292564

NM_006612.6(KIF1C):c.18G>A (p.Val6=)

SNV
Germline

Chr17:5000264

Conflicting classifications of pathogenicity

Condition: not provided
Spastic ataxia 2
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA8318421

rs_148361794

4 SubmittersRCV000827041 RCV001078969 RCV001848960

NM_006612.6(KIF1C):c.499C>T (p.Arg167Trp)

SNV
Germline

Chr17:5002533

Conflicting classifications of pathogenicity

Spastic ataxia 2

Criteria Provided
Conflicting Classifications

CA8318586

rs_185479618

2 SubmittersRCV000540072

NM_014363.6(SACS):c.13615C>T (p.Pro4539Ser)

SNV
Germline

Chr13:23330261

Likely pathogenic

Condition: not provided
Charlevoix-Saguenay spastic ataxia

Criteria Provided
Multiple Submitters
No Conflicts

CA387504864

rs_1555249106

2 SubmittersRCV000593641 RCV003465330

NM_014363.6(SACS):c.10668G>A (p.Leu3556=)

SNV
Germline

Chr13:23333208

Conflicting classifications of pathogenicity

Spastic paraplegia
Condition: not provided
Charlevoix-Saguenay spastic ataxia

Criteria Provided
Conflicting Classifications

CA6910414

rs_139517699

6 SubmittersRCV001086031 RCV000676351 RCV001783099

NM_014363.6(SACS):c.8142G>A (p.Ser2714=)

SNV
Germline

Chr13:23335734

Conflicting classifications of pathogenicity

Condition: not provided
Spastic paraplegia
Charlevoix-Saguenay spastic ataxia

Criteria Provided
Conflicting Classifications

CA6910815

rs_530250252

3 SubmittersRCV000598079 RCV001468357 RCV001783101

NM_014363.6(SACS):c.13027G>A (p.Glu4343Lys)

SNV
Germline

Chr13:23330849

Conflicting classifications of pathogenicity

Condition: not provided
Charlevoix-Saguenay spastic ataxia
not specified
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6910035

rs_749383532

7 SubmittersRCV000593745 RCV000671806 RCV002232237 RCV002532677

NM_014363.6(SACS):c.814C>T (p.Arg272Cys)

SNV
Germline

Chr13:23355798

Pathogenic/Likely pathogenic

Charlevoix-Saguenay spastic ataxia
Hereditary ataxia
Spastic paraplegia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA246678438

rs_374128662

8 SubmittersRCV000612398 RCV000824757 RCV001380372 RCV001591363

NM_006612.6(KIF1C):c.996C>T (p.Tyr332=)

SNV
Germline

Chr17:5004622

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Spastic ataxia 2

Criteria Provided
Conflicting Classifications

CA8318825

rs_143283587

3 SubmittersRCV000601473 RCV000915985 RCV001452482

NM_006612.6(KIF1C):c.2109G>A (p.Thr703=)

SNV
Germline

Chr17:5022190

Conflicting classifications of pathogenicity

not specified
Spastic ataxia 2

Criteria Provided
Conflicting Classifications

CA8319220

rs_372267137

2 SubmittersRCV000602782 RCV001855215

NM_014363.6(SACS):c.9723G>C (p.Glu3241Asp)

SNV
Germline

Chr13:23334153

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Inborn genetic diseases
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6910575

rs_772595501

3 SubmittersRCV000625697 RCV004025286 RCV002531924

NM_014363.6(SACS):c.8579A>G (p.Asn2860Ser)

SNV
Germline

Chr13:23335297

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6910745

rs_201294520

4 SubmittersRCV000625698 RCV001439415 RCV001848999

NM_014363.6(SACS):c.10813A>T (p.Lys3605Ter)

SNV
Germline

Chr13:23333063

Pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Multiple Submitters
No Conflicts

CA387511366

rs_1360298758

3 SubmittersRCV000625786

NM_014363.6(SACS):c.4585C>T (p.Gln1529Ter)

SNV
Germline

Chr13:23339291

Pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

CA387528407

rs_1555252345

1 SubmittersRCV000625765

NM_014363.6(SACS):c.1672C>T (p.Gln558Ter)

SNV
Germline

Chr13:23354940

Pathogenic/Likely pathogenic

Condition: not provided
Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Hereditary spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA387547285

rs_923921184

4 SubmittersRCV000627327 RCV001065954 RCV001785684 RCV001849000

NM_014363.6(SACS):c.83C>T (p.Ser28Phe)

SNV
Germline

Chr13:23375207

Conflicting classifications of pathogenicity

Spastic paraplegia
Inborn genetic diseases
Charlevoix-Saguenay spastic ataxia

Criteria Provided
Conflicting Classifications

CA387554637

rs_1365453773

3 SubmittersRCV000633012 RCV002529815 RCV001835012

NM_014363.6(SACS):c.12762C>T (p.Ser4254=)

SNV
Germline

Chr13:23331114

Conflicting classifications of pathogenicity

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
not specified
Condition: not provided
Hereditary spastic paraplegia
SACS-related disorder

Criteria Provided
Conflicting Classifications

CA6910094

rs_11554397

10 SubmittersRCV000633091 RCV001114730 RCV001288701 RCV001571934 RCV001849009 RCV003935763

NM_014363.6(SACS):c.10305T>C (p.Ser3435=)

SNV
Germline

Chr13:23333571

Conflicting classifications of pathogenicity

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
not specified
Condition: not provided
Hereditary spastic paraplegia
SACS-related disorder

Criteria Provided
Conflicting Classifications

CA6910469

rs_35670472

10 SubmittersRCV000633092 RCV001109204 RCV001288369 RCV001558026 RCV001849010 RCV003935764

NM_014363.6(SACS):c.972C>A (p.Asp324Glu)

SNV
Germline

Chr13:23355640

Conflicting classifications of pathogenicity

Condition: not provided
Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
SACS-related disorder

Criteria Provided
Conflicting Classifications

CA6911995

rs_546652936

5 SubmittersRCV000676374 RCV001083526 RCV001112022 RCV003935762

NM_014363.6(SACS):c.4757A>G (p.Asn1586Ser)

SNV
Germline

Chr13:23339119

Conflicting classifications of pathogenicity

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6911347

rs_201558584

7 SubmittersRCV000633040 RCV001111812 RCV001508703 RCV001849005

NM_014363.6(SACS):c.1791A>T (p.Ser597=)

SNV
Germline

Chr13:23354821

Conflicting classifications of pathogenicity

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
SACS-related disorder

Criteria Provided
Conflicting Classifications

CA6911850

rs_371175405

4 SubmittersRCV000633109 RCV001113727 RCV003935765

NM_006612.6(KIF1C):c.339A>G (p.Pro113=)

SNV
Germline

Chr17:5001377

Conflicting classifications of pathogenicity

Spastic ataxia 2
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA8318508

rs_142773987

2 SubmittersRCV000645369 RCV001849025

NM_006005.3(WFS1):c.1181A>T (p.Glu394Val)

SNV
Germline

Chr4:6300976

Conflicting classifications of pathogenicity

Condition: not provided
Spastic ataxia

Criteria Provided
Conflicting Classifications

rs_146563951

4 SubmittersRCV000657864 RCV001644744

NM_006796.3(AFG3L2):c.1385C>T (p.Ala462Val)

SNV
Germline

Chr18:12351347

Conflicting classifications of pathogenicity

Optic atrophy 12
Optic atrophy
Condition: not provided
Spastic ataxia 5

Criteria Provided
Conflicting Classifications

rs_912546325

4 SubmittersRCV001253811 RCV001249473 RCV000658802 RCV001253812

NM_014363.6(SACS):c.13276C>T (p.Gln4426Ter)

SNV
Germline

Chr13:23330600

Pathogenic/Likely pathogenic

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555249276

2 SubmittersRCV000673080 RCV003750816

NM_014363.6(SACS):c.12622C>T (p.Gln4208Ter)

SNV
Germline

Chr13:23331254

Pathogenic/Likely pathogenic

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555249555

3 SubmittersRCV000668994 RCV001232544

NM_014363.6(SACS):c.8727G>A (p.Trp2909Ter)

SNV
Germline

Chr13:23335149

Pathogenic/Likely pathogenic

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555250949

2 SubmittersRCV000667371 RCV001855479

NM_014363.6(SACS):c.7110C>A (p.Tyr2370Ter)

SNV
Unknown

Chr13:23336766

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

rs_1555251553

1 SubmittersRCV000674868

NM_014363.6(SACS):c.6409C>T (p.Gln2137Ter)

SNV
Unknown

Chr13:23337467

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

rs_201690040

1 SubmittersRCV000666608

NM_014363.6(SACS):c.6130C>T (p.Gln2044Ter)

SNV
Unknown

Chr13:23337746

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

rs_1408290451

1 SubmittersRCV000673160

NM_014363.6(SACS):c.3674T>G (p.Leu1225Ter)

SNV
Unknown

Chr13:23340202

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

rs_959856535

1 SubmittersRCV000668407

NM_014363.6(SACS):c.3457A>T (p.Lys1153Ter)

SNV
Unknown

Chr13:23340419

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

rs_1555252634

1 SubmittersRCV000670862

NM_014363.6(SACS):c.961C>T (p.Arg321Ter)

SNV
Germline

Chr13:23355651

Pathogenic

Charlevoix-Saguenay spastic ataxia
Condition: not provided
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1175545518

7 SubmittersRCV000671337 RCV001090243 RCV001868253

NM_014363.6(SACS):c.2T>C (p.Met1Thr)

SNV
Unknown

Chr13:23411238

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

rs_1417057515

1 SubmittersRCV000666635

NM_014363.6(SACS):c.12323C>G (p.Ser4108Ter)

SNV
Unknown

Chr13:23331553

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

rs_1555249633

1 SubmittersRCV000671025

NM_014363.6(SACS):c.11935G>T (p.Glu3979Ter)

SNV
Unknown

Chr13:23331941

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

rs_1555249745

1 SubmittersRCV000674023

NM_014363.6(SACS):c.11179C>T (p.Gln3727Ter)

SNV
Unknown

Chr13:23332697

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

rs_1555249966

1 SubmittersRCV000666271

NM_014363.6(SACS):c.8108G>A (p.Arg2703His)

SNV
Germline

Chr13:23335768

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Condition: not provided
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_750181262

6 SubmittersRCV000668456 RCV001576889 RCV001868222

NM_014363.6(SACS):c.3901C>T (p.Gln1301Ter)

SNV
Unknown

Chr13:23339975

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

rs_1555252531

1 SubmittersRCV000667332

NM_014363.6(SACS):c.2863A>T (p.Lys955Ter)

SNV
Unknown

Chr13:23341013

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

rs_1555252786

1 SubmittersRCV000667512

NM_014363.6(SACS):c.2533C>T (p.Gln845Ter)

SNV
Unknown

Chr13:23341343

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555252876

2 SubmittersRCV000664830

NM_014363.6(SACS):c.13405G>C (p.Ala4469Pro)

SNV
Unknown

Chr13:23330471

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

rs_745961541

1 SubmittersRCV000672222

NM_014363.6(SACS):c.2434C>T (p.Gln812Ter)

SNV
Unknown

Chr13:23341442

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

rs_1555252929

1 SubmittersRCV000674140

NM_014363.6(SACS):c.815G>A (p.Arg272His)

SNV
Germline

Chr13:23355797

Pathogenic/Likely pathogenic

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

rs_745907077

3 SubmittersRCV000670029 RCV001855535

NM_014363.6(SACS):c.13284C>A (p.Tyr4428Ter)

SNV
Unknown

Chr13:23330592

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

rs_753277514

1 SubmittersRCV000670810

NM_014363.6(SACS):c.605-1G>A

SNV
Unknown

Chr13:23356008

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

rs_1555254489

1 SubmittersRCV000668193

NM_014363.6(SACS):c.11509C>T (p.Gln3837Ter)

SNV
Unknown

Chr13:23332367

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

rs_1555249881

1 SubmittersRCV000669284

NM_014363.6(SACS):c.8029C>T (p.Gln2677Ter)

SNV
Unknown

Chr13:23335847

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

rs_1555251241

1 SubmittersRCV000667379

NM_014363.6(SACS):c.7527T>G (p.Tyr2509Ter)

SNV
Unknown

Chr13:23336349

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

rs_140034972

1 SubmittersRCV000665439

NM_014363.6(SACS):c.6355C>T (p.Arg2119Ter)

SNV
Germline

Chr13:23337521

Pathogenic

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

rs_766711286

7 SubmittersRCV000672257 RCV001387162

NM_014363.6(SACS):c.6052A>T (p.Lys2018Ter)

SNV
Unknown

Chr13:23337824

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

rs_1555251944

1 SubmittersRCV000673402

NM_014363.6(SACS):c.5414C>G (p.Ser1805Ter)

SNV
Unknown

Chr13:23338462

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

rs_1555252113

1 SubmittersRCV000664891

NM_014363.6(SACS):c.5281C>T (p.Gln1761Ter)

SNV
Unknown

Chr13:23338595

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

rs_1555252142

1 SubmittersRCV000671001

NM_014363.6(SACS):c.5075C>A (p.Ser1692Ter)

SNV
Germline

Chr13:23338801

Pathogenic/Likely pathogenic

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555252184

2 SubmittersRCV000667425 RCV003767955

NM_014363.6(SACS):c.5010T>G (p.Tyr1670Ter)

SNV
Unknown

Chr13:23338866

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

rs_1459899547

1 SubmittersRCV000672847

NM_014363.6(SACS):c.2186-4A>G

SNV
Germline

Chr13:23341694

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_371866995

3 SubmittersRCV000664864 RCV001512029

NM_014363.6(SACS):c.604+1G>A

SNV
Germline

Chr13:23358334

Likely pathogenic

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555254734

2 SubmittersRCV000666450 RCV003750811

NM_014363.6(SACS):c.10087A>T (p.Lys3363Ter)

SNV
Unknown

Chr13:23333789

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

rs_1555250359

1 SubmittersRCV000673894

NM_014363.6(SACS):c.8480C>A (p.Ser2827Ter)

SNV
Unknown

Chr13:23335396

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

rs_1555251015

1 SubmittersRCV000667851

NM_014363.6(SACS):c.8377C>T (p.Gln2793Ter)

SNV
Germline

Chr13:23335499

Pathogenic/Likely pathogenic

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1240368715

2 SubmittersRCV000674504 RCV002532164

NM_014363.6(SACS):c.6919G>T (p.Gly2307Ter)

SNV
Unknown

Chr13:23336957

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

rs_1555251615

1 SubmittersRCV000668288

NM_014363.6(SACS):c.5719C>T (p.Arg1907Ter)

SNV
Germline

Chr13:23338157

Pathogenic

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1485209013

5 SubmittersRCV000672553 RCV002532128

NM_014363.6(SACS):c.3427C>T (p.Gln1143Ter)

SNV
Germline

Chr13:23340449

Pathogenic/Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Multiple Submitters
No Conflicts

rs_144267558

3 SubmittersRCV000670813

NM_014363.6(SACS):c.2564T>G (p.Leu855Ter)

SNV
Unknown

Chr13:23341312

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

rs_142037771

1 SubmittersRCV000669728

NM_014363.6(SACS):c.2287C>T (p.Gln763Ter)

SNV
Unknown

Chr13:23341589

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

rs_1555252953

1 SubmittersRCV000671096

NM_014363.6(SACS):c.1004C>T (p.Ser335Leu)

SNV
Germline

Chr13:23355608

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Hereditary spastic paraplegia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_767435985

4 SubmittersRCV000673666 RCV001849042 RCV002060828

NM_014363.6(SACS):c.832C>T (p.Gln278Ter)

SNV
Germline

Chr13:23355780

Pathogenic/Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555254439

2 SubmittersRCV000666383

NM_014363.6(SACS):c.3506G>C (p.Gly1169Ala)

SNV
Germline

Chr13:23340370

Conflicting classifications of pathogenicity

Condition: not provided
Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_1443000762

4 SubmittersRCV000676367 RCV001830473 RCV002531379

NM_014363.6(SACS):c.1906C>T (p.Arg636Trp)

SNV
Germline

Chr13:23354706

Conflicting classifications of pathogenicity

Condition: not provided
Spastic paraplegia
Charlevoix-Saguenay spastic ataxia

Criteria Provided
Conflicting Classifications

rs_201752905

4 SubmittersRCV000676369 RCV001049324 RCV001113725

NM_014363.6(SACS):c.262C>T (p.Arg88Ter)

SNV
Germline

Chr13:23368485

Pathogenic

Charcot-Marie-Tooth disease X-linked dominant 1
Spastic paraplegia
Condition: not provided
Charlevoix-Saguenay spastic ataxia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555255676

4 SubmittersRCV002305528 RCV002544685 RCV001816685 RCV000677658

NM_014363.6(SACS):c.7100C>T (p.Ala2367Val)

SNV
Germline

Chr13:23336776

Conflicting classifications of pathogenicity

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_752273313

3 SubmittersRCV000690739 RCV001275189 RCV002547157

NM_014363.6(SACS):c.2776A>G (p.Ile926Val)

SNV
Germline

Chr13:23341100

Conflicting classifications of pathogenicity

Condition: not provided
Charlevoix-Saguenay spastic ataxia
Spastic paraplegia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_144362131

7 SubmittersRCV000712972 RCV001111915 RCV001257223 RCV001849073

NM_014363.6(SACS):c.9551G>A (p.Arg3184His)

SNV
Germline

Chr13:23334325

Conflicting classifications of pathogenicity

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_200453385

3 SubmittersRCV000689777 RCV001829908 RCV001849054

NM_014363.6(SACS):c.13106A>G (p.Asp4369Gly)

SNV
Germline

Chr13:23330770

Conflicting classifications of pathogenicity

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_770895110

3 SubmittersRCV000688293 RCV001830494 RCV002272330

NM_014363.6(SACS):c.11327T>C (p.Ile3776Thr)

SNV
Germline

Chr13:23332549

Conflicting classifications of pathogenicity

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia

Criteria Provided
Conflicting Classifications

rs_145188410

5 SubmittersRCV000698539 RCV001111442

NM_014363.6(SACS):c.2294A>G (p.Tyr765Cys)

SNV
Germline

Chr13:23341582

Conflicting classifications of pathogenicity

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_141553858

4 SubmittersRCV000688531 RCV001784312 RCV001756169

NM_006612.6(KIF1C):c.682C>T (p.Arg228Cys)

SNV
Germline

Chr17:5002804

Conflicting classifications of pathogenicity

Spastic ataxia 2
Microcephaly
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_141189136

3 SubmittersRCV000687046 RCV001252794 RCV003258918

NM_014363.6(SACS):c.2492A>G (p.Glu831Gly)

SNV
Germline

Chr13:23341384

Conflicting classifications of pathogenicity

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_375968367

4 SubmittersRCV000700961 RCV001271967 RCV002473121 RCV002533606

NM_014363.6(SACS):c.1562G>C (p.Ser521Thr)

SNV
Germline

Chr13:23355050

Conflicting classifications of pathogenicity

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Condition: not provided
SACS-related disorder

Criteria Provided
Conflicting Classifications

rs_190617851

6 SubmittersRCV000697081 RCV001271970 RCV001756213 RCV003953240

NM_001378452.1(ITPR1):c.2683A>G (p.Ile895Val)

SNV
Germline

Chr3:4675152

Conflicting classifications of pathogenicity

Condition: not provided
Spastic ataxia

Criteria Provided
Conflicting Classifications

rs_750473506

3 SubmittersRCV000712017 RCV001644777

NM_014363.6(SACS):c.12260A>G (p.Tyr4087Cys)

SNV
Germline

Chr13:23331616

Conflicting classifications of pathogenicity

Condition: not provided
Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_373478772

3 SubmittersRCV000712960 RCV001274917 RCV002532942

NM_014363.6(SACS):c.12148T>C (p.Phe4050Leu)

SNV
Germline

Chr13:23331728

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_147013767

4 SubmittersRCV001274918 RCV001049336 RCV001644778 RCV003480803

NM_014363.6(SACS):c.11380G>T (p.Val3794Phe)

SNV
Germline

Chr13:23332496

Conflicting classifications of pathogenicity

Condition: not provided
Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_753844954

3 SubmittersRCV000712957 RCV001825423 RCV002532941

NM_014363.6(SACS):c.11161G>A (p.Gly3721Ser)

SNV
Germline

Chr13:23332715

Conflicting classifications of pathogenicity

Condition: not provided
Charlevoix-Saguenay spastic ataxia
Inborn genetic diseases
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_780789569

4 SubmittersRCV000712956 RCV001830583 RCV002534513 RCV003750819

NM_014363.6(SACS):c.10181A>G (p.Asn3394Ser)

SNV
Germline

Chr13:23333695

Conflicting classifications of pathogenicity

Condition: not provided
Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_375898103

4 SubmittersRCV000712954 RCV001273195 RCV001491310

NM_014363.6(SACS):c.9680A>C (p.Lys3227Thr)

SNV
Germline

Chr13:23334196

Conflicting classifications of pathogenicity

Condition: not provided
Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_765635417

3 SubmittersRCV000712995 RCV001825427 RCV002532946

NM_014363.6(SACS):c.9562T>C (p.Phe3188Leu)

SNV
Germline

Chr13:23334314

Conflicting classifications of pathogenicity

Condition: not provided
Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_137905181

6 SubmittersRCV000712994 RCV000765118 RCV001034278

NM_014363.6(SACS):c.8539C>G (p.Leu2847Val)

SNV
Germline

Chr13:23335337

Conflicting classifications of pathogenicity

Condition: not provided
Spastic paraplegia
Charlevoix-Saguenay spastic ataxia

Criteria Provided
Conflicting Classifications

rs_760976439

4 SubmittersRCV000712992 RCV000800081 RCV001276935

NM_014363.6(SACS):c.7282A>G (p.Ile2428Val)

SNV
Germline

Chr13:23336594

Conflicting classifications of pathogenicity

Condition: not provided
Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_1007936574

6 SubmittersRCV000712989 RCV001784353 RCV002534516

NM_014363.6(SACS):c.6178G>C (p.Val2060Leu)

SNV
Germline

Chr13:23337698

Conflicting classifications of pathogenicity

Condition: not provided
Charlevoix-Saguenay spastic ataxia
Inborn genetic diseases
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_373226693

4 SubmittersRCV000712980 RCV001830584 RCV002534514 RCV002534515

NM_014363.6(SACS):c.5744A>G (p.His1915Arg)

SNV
Germline

Chr13:23338132

Conflicting classifications of pathogenicity

Condition: not provided
Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_144822691

7 SubmittersRCV000712979 RCV000765123 RCV001245813

NM_014363.6(SACS):c.3017A>G (p.His1006Arg)

SNV
Germline

Chr13:23340859

Conflicting classifications of pathogenicity

Condition: not provided
Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_368149368

3 SubmittersRCV000712973 RCV001271966 RCV002532945

NM_014363.6(SACS):c.2580A>G (p.Gln860=)

SNV
Germline

Chr13:23341296

Conflicting classifications of pathogenicity

Condition: not provided
Charlevoix-Saguenay spastic ataxia
Spastic paraplegia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_41283958

10 SubmittersRCV000712969 RCV000765125 RCV001087176 RCV001849072

NM_014363.6(SACS):c.2024A>G (p.Asn675Ser)

SNV
Germline

Chr13:23354588

Conflicting classifications of pathogenicity

Condition: not provided
Spastic paraplegia
Charlevoix-Saguenay spastic ataxia

Criteria Provided
Conflicting Classifications

rs_146395198

4 SubmittersRCV000712965 RCV001244618 RCV001784352

NM_014363.6(SACS):c.1846G>C (p.Ala616Pro)

SNV
Germline

Chr13:23354766

Conflicting classifications of pathogenicity

Condition: not provided
Spastic paraplegia
Charlevoix-Saguenay spastic ataxia

Criteria Provided
Conflicting Classifications

rs_200437752

4 SubmittersRCV000712964 RCV000812548 RCV001784351

NM_014363.6(SACS):c.247T>C (p.Leu83=)

SNV
Germline

Chr13:23371090

Conflicting classifications of pathogenicity

Condition: not provided
Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_1470292816

3 SubmittersRCV000712968 RCV001825424 RCV003750820

NM_001127222.2(CACNA1A):c.4997G>A (p.Arg1666Gln)

SNV
Germline

Chr19:13235684

Conflicting classifications of pathogenicity

Condition: not provided
Spastic ataxia

Criteria Provided
Conflicting Classifications

rs_1568447650

4 SubmittersRCV000710963 RCV000855537

NM_014363.6(SACS):c.4103G>T (p.Ser1368Ile)

SNV
Unknown

Chr13:23339773

Pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

rs_1566069517

1 SubmittersRCV000761546

NM_014363.6(SACS):c.11066C>A (p.Pro3689Gln)

SNV
Germline

Chr13:23332810

Conflicting classifications of pathogenicity

Condition: not provided
Charlevoix-Saguenay spastic ataxia
Spastic paraplegia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_148925505

7 SubmittersRCV000761851 RCV001111443 RCV001241078 RCV001849092

NM_177400.3(NKX6-2):c.608G>A (p.Trp203Ter)

SNV
Germline

Chr10:132785142

Likely pathogenic

Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy

Criteria Provided
Single Submitter

rs_1565019928

3 SubmittersRCV000770994

NM_177400.3(NKX6-2):c.599G>A (p.Arg200Gln)

SNV
Germline

Chr10:132785151

Pathogenic

Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy

Criteria Provided
Single Submitter

rs_1008088032

4 SubmittersRCV000770992

NM_177400.3(NKX6-2):c.589C>T (p.Gln197Ter)

SNV
Germline

Chr10:132785161

Likely pathogenic

Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy
Condition: not provided

Criteria Provided
Single Submitter

rs_1565019976

4 SubmittersRCV000770991 RCV003558575

NM_177400.3(NKX6-2):c.565G>T (p.Glu189Ter)

SNV
Germline

Chr10:132785294

Pathogenic

Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy

No Assertion Criteria Provided

rs_776560015

3 SubmittersRCV000770990

NM_016955.4(SEPSECS):c.1393C>T (p.Arg465Ter)

SNV
Germline

Chr4:25124044

Conflicting classifications of pathogenicity

Pontocerebellar hypoplasia type 2D
Spastic ataxia
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_773969315

4 SubmittersRCV000779439 RCV001644813 RCV002298768 RCV002535655

NM_014363.6(SACS):c.9670C>T (p.Arg3224Ter)

SNV
Germline

Chr13:23334206

Pathogenic/Likely pathogenic

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

rs_751568153

2 SubmittersRCV000781830 RCV003750821

NM_016035.5(COQ4):c.284G>A (p.Gly95Asp)

SNV
Germline

Chr9:128325224

Conflicting classifications of pathogenicity

Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
Spastic ataxia

Criteria Provided
Conflicting Classifications

rs_779568890

3 SubmittersRCV000792805 RCV001644823

NM_001330260.2(SCN8A):c.1790G>A (p.Arg597His)

SNV
Germline

Chr12:51721700

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
Spastic ataxia

Criteria Provided
Conflicting Classifications

rs_755358223

2 SubmittersRCV000797517 RCV001644826

NM_014363.6(SACS):c.10205A>G (p.Asp3402Gly)

SNV
Germline

Chr13:23333671

Conflicting classifications of pathogenicity

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_543563990

4 SubmittersRCV000802657 RCV001274921 RCV001662833

NM_014363.6(SACS):c.6409C>G (p.Gln2137Glu)

SNV
Germline

Chr13:23337467

Conflicting classifications of pathogenicity

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_201690040

4 SubmittersRCV000804057 RCV001830740 RCV004028161

NM_014363.6(SACS):c.6349G>A (p.Glu2117Lys)

SNV
Germline

Chr13:23337527

Conflicting classifications of pathogenicity

Spastic paraplegia
Condition: not provided
Charlevoix-Saguenay spastic ataxia

Criteria Provided
Conflicting Classifications

rs_754033201

4 SubmittersRCV000805719 RCV001287906 RCV001275192

NM_014363.6(SACS):c.5368G>A (p.Ala1790Thr)

SNV
Germline

Chr13:23338508

Conflicting classifications of pathogenicity

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_147517201

3 SubmittersRCV000821085 RCV001276943 RCV001849125

NM_014363.6(SACS):c.2881C>T (p.Arg961Ter)

SNV
Germline

Chr13:23340995

Pathogenic

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1593133395

3 SubmittersRCV000793079 RCV001830692

NM_014363.6(SACS):c.1907G>A (p.Arg636Gln)

SNV
Germline

Chr13:23354705

Conflicting classifications of pathogenicity

Spastic paraplegia
Condition: not provided
Charlevoix-Saguenay spastic ataxia

Criteria Provided
Conflicting Classifications

rs_368944813

4 SubmittersRCV000819244 RCV001508706 RCV001784447

NM_014363.6(SACS):c.1061C>G (p.Thr354Ser)

SNV
Germline

Chr13:23355551

Conflicting classifications of pathogenicity

Spastic paraplegia
Condition: not provided
Charlevoix-Saguenay spastic ataxia

Criteria Provided
Conflicting Classifications

rs_1425519295

4 SubmittersRCV000821539 RCV000992770 RCV001784452

NM_014363.6(SACS):c.434C>G (p.Ser145Ter)

SNV
Germline

Chr13:23365189

Pathogenic/Likely pathogenic

Spastic paraplegia
Condition: not provided
Charlevoix-Saguenay spastic ataxia
SACS-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_994374354

7 SubmittersRCV000819151 RCV000992789 RCV001785730 RCV003396439

NM_006612.6(KIF1C):c.500G>A (p.Arg167Gln)

SNV
Germline

Chr17:5002534

Conflicting classifications of pathogenicity

Spastic ataxia 2
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_199962814

3 SubmittersRCV000799939 RCV002267025 RCV003258975

NM_006005.3(WFS1):c.2531C>T (p.Ala844Val)

SNV
Germline

Chr4:6302326

Conflicting classifications of pathogenicity

not specified
Spastic ataxia
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_200192011

3 SubmittersRCV000825502 RCV001644837 RCV001858398

NM_014363.6(SACS):c.6434T>A (p.Leu2145Ter)

SNV
Germline

Chr13:23337442

Pathogenic

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

rs_770490672

3 SubmittersRCV000850593 RCV001386982

NM_014363.6(SACS):c.8132C>T (p.Ser2711Leu)

SNV
Germline

Chr13:23335744

Conflicting classifications of pathogenicity

not specified
Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_1213203489

3 SubmittersRCV003387938 RCV003467533 RCV002538873

NM_014363.6(SACS):c.10980C>T (p.Pro3660=)

SNV
Germline

Chr13:23332896

Conflicting classifications of pathogenicity

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_141353693

3 SubmittersRCV000861725 RCV001825710 RCV001849148

NM_014363.6(SACS):c.10909A>G (p.Met3637Val)

SNV
Germline

Chr13:23332967

Conflicting classifications of pathogenicity

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
SACS-related disorder

Criteria Provided
Conflicting Classifications

rs_150309559

4 SubmittersRCV000863055 RCV001113445 RCV003955594

NM_014363.6(SACS):c.10298C>T (p.Thr3433Ile)

SNV
Germline

Chr13:23333578

Conflicting classifications of pathogenicity

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia

Criteria Provided
Conflicting Classifications

rs_200991790

3 SubmittersRCV000862368 RCV001109205

NM_014363.6(SACS):c.10291G>C (p.Val3431Leu)

SNV
Germline

Chr13:23333585

Conflicting classifications of pathogenicity

Condition: not provided
Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
SACS-related disorder

Criteria Provided
Conflicting Classifications

rs_144179865

7 SubmittersRCV000862183 RCV001086035 RCV001109206 RCV003918335

NM_014363.6(SACS):c.10008A>G (p.Lys3336=)

SNV
Germline

Chr13:23333868

Conflicting classifications of pathogenicity

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

rs_148971954

8 SubmittersRCV000862514 RCV001111538 RCV001593072 RCV001664493

NM_014363.6(SACS):c.7725A>T (p.Ile2575=)

SNV
Germline

Chr13:23336151

Conflicting classifications of pathogenicity

not specified
Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Condition: not provided
SACS-related disorder

Criteria Provided
Conflicting Classifications

rs_200735789

7 SubmittersRCV000862794 RCV001080113 RCV001112099 RCV002510993 RCV003918343

NM_014363.6(SACS):c.7306A>C (p.Ile2436Leu)

SNV
Germline

Chr13:23336570

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia
Charlevoix-Saguenay spastic ataxia

Criteria Provided
Conflicting Classifications

rs_567650774

3 SubmittersRCV000862365 RCV001849160 RCV003141874

NM_014363.6(SACS):c.7200T>C (p.Phe2400=)

SNV
Germline

Chr13:23336676

Conflicting classifications of pathogenicity

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_148544893

5 SubmittersRCV000863351 RCV001115056 RCV001849169

NM_014363.6(SACS):c.5502G>C (p.Leu1834=)

SNV
Germline

Chr13:23338374

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia
Charlevoix-Saguenay spastic ataxia
not specified

Criteria Provided
Conflicting Classifications

rs_34389000

6 SubmittersRCV000861553 RCV001849145 RCV001115154 RCV001664489

NM_014363.6(SACS):c.5461T>C (p.Cys1821Arg)

SNV
Germline

Chr13:23338415

Conflicting classifications of pathogenicity

Condition: not provided
Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Hereditary spastic paraplegia
SACS-related disorder

Criteria Provided
Conflicting Classifications

rs_376680832

8 SubmittersRCV000863078 RCV001080973 RCV001115156 RCV001849165 RCV003955596

NM_014363.6(SACS):c.1913G>A (p.Cys638Tyr)

SNV
Germline

Chr13:23354699

Conflicting classifications of pathogenicity

Condition: not provided
Spastic paraplegia
Charlevoix-Saguenay spastic ataxia

Criteria Provided
Conflicting Classifications

rs_778572943

4 SubmittersRCV000862304 RCV001088293 RCV001277267

NM_014363.6(SACS):c.1593C>T (p.Ile531=)

SNV
Germline

Chr13:23355019

Conflicting classifications of pathogenicity

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Condition: not provided
Hereditary spastic paraplegia
SACS-related disorder

Criteria Provided
Conflicting Classifications

rs_113756713

7 SubmittersRCV000861032 RCV001109712 RCV001552523 RCV001849134 RCV003938209

NM_014363.6(SACS):c.1378C>T (p.Leu460Phe)

SNV
Germline

Chr13:23355234

Conflicting classifications of pathogenicity

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Condition: not provided
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_145213666

4 SubmittersRCV000861435 RCV001277270 RCV001288706 RCV001849142

NM_014363.6(SACS):c.1026A>T (p.Lys342Asn)

SNV
Germline

Chr13:23355586

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia
Charlevoix-Saguenay spastic ataxia
SACS-related disorder

Criteria Provided
Conflicting Classifications

rs_190623423

4 SubmittersRCV000862139 RCV001849155 RCV003141873 RCV003892784

NM_014363.6(SACS):c.12829C>T (p.Pro4277Ser)

SNV
Germline

Chr13:23331047

Conflicting classifications of pathogenicity

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
not specified
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_370655945

6 SubmittersRCV000867623 RCV001113355 RCV001288702 RCV001847073

NM_014363.6(SACS):c.7101G>A (p.Ala2367=)

SNV
Germline

Chr13:23336775

Conflicting classifications of pathogenicity

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia

Criteria Provided
Conflicting Classifications

rs_764702321

3 SubmittersRCV000868084 RCV001109418

NM_014363.6(SACS):c.3915T>C (p.His1305=)

SNV
Germline

Chr13:23339961

Conflicting classifications of pathogenicity

Condition: not provided
Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_767598017

4 SubmittersRCV000865691 RCV001112286 RCV001446915

NM_014363.6(SACS):c.3417C>T (p.His1139=)

SNV
Germline

Chr13:23340459

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_758862765

3 SubmittersRCV001113627 RCV001396576

NM_014363.6(SACS):c.861C>T (p.Tyr287=)

SNV
Germline

Chr13:23355751

Conflicting classifications of pathogenicity

Condition: not provided
Spastic paraplegia
Charlevoix-Saguenay spastic ataxia

Criteria Provided
Conflicting Classifications

rs_200877272

5 SubmittersRCV000869346 RCV001081486 RCV001112464

NM_014363.6(SACS):c.151C>T (p.Leu51=)

SNV
Germline

Chr13:23375139

Conflicting classifications of pathogenicity

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia

Criteria Provided
Conflicting Classifications

rs_979224977

3 SubmittersRCV000865792 RCV001113815

NM_014363.6(SACS):c.7497C>T (p.Val2499=)

SNV
Germline

Chr13:23336379

Conflicting classifications of pathogenicity

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia

Criteria Provided
Conflicting Classifications

rs_774558627

4 SubmittersRCV000873350 RCV001115052

NM_014363.6(SACS):c.5169A>G (p.Ala1723=)

SNV
Germline

Chr13:23338707

Conflicting classifications of pathogenicity

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia

Criteria Provided
Conflicting Classifications

rs_200699984

3 SubmittersRCV000874244 RCV001109529

NM_014363.6(SACS):c.1752A>G (p.Leu584=)

SNV
Germline

Chr13:23354860

Conflicting classifications of pathogenicity

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_368626712

3 SubmittersRCV000871517 RCV001277269 RCV001847087

NM_006612.6(KIF1C):c.884C>T (p.Ser295Leu)

SNV
Germline

Chr17:5004017

Conflicting classifications of pathogenicity

Condition: not provided
Spastic ataxia 2
Hereditary spastic paraplegia
Inborn genetic diseases
KIF1C-related disorder

Criteria Provided
Conflicting Classifications

rs_145650252

5 SubmittersRCV000871153 RCV001446098 RCV001847085 RCV002539099 RCV003920401

NM_006612.6(KIF1C):c.3198A>G (p.Gln1066=)

SNV
Germline

Chr17:5024037

Conflicting classifications of pathogenicity

Spastic ataxia 2
Hereditary spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_143972053

3 SubmittersRCV000871154 RCV001847086 RCV003413694

NM_006612.6(KIF1C):c.1563C>T (p.Gly521=)

SNV
Germline

Chr17:5013724

Conflicting classifications of pathogenicity

Spastic ataxia 2
Hereditary spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_376123205

3 SubmittersRCV000945782 RCV001847116 RCV003424485

NM_014363.6(SACS):c.11049T>C (p.Asn3683=)

SNV
Germline

Chr13:23332827

Conflicting classifications of pathogenicity

Spastic paraplegia
not specified
Charlevoix-Saguenay spastic ataxia
Hereditary spastic paraplegia
SACS-related disorder

Criteria Provided
Conflicting Classifications

rs_773770705

5 SubmittersRCV000973335 RCV001664583 RCV001832214 RCV001847118 RCV003953325

NM_014363.6(SACS):c.8958C>T (p.His2986=)

SNV
Germline

Chr13:23334918

Conflicting classifications of pathogenicity

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_758029668

4 SubmittersRCV000973863 RCV001114945 RCV003883518

NM_014363.6(SACS):c.9912C>T (p.Leu3304=)

SNV
Germline

Chr13:23333964

Conflicting classifications of pathogenicity

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia

Criteria Provided
Conflicting Classifications

rs_1593124372

2 SubmittersRCV001410507 RCV001578937

NM_006612.6(KIF1C):c.1310C>T (p.Pro437Leu)

SNV
Germline

Chr17:5007059

Conflicting classifications of pathogenicity

Spastic ataxia 2
Hereditary spastic paraplegia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_148619121

3 SubmittersRCV001452858 RCV001847121 RCV002549567

NM_014363.6(SACS):c.11941C>T (p.Gln3981Ter)

SNV
Germline

Chr13:23331935

Pathogenic

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1593121484

2 SubmittersRCV000988964 RCV001858698

NM_014363.6(SACS):c.562G>A (p.Gly188Arg)

SNV
Germline

Chr13:23358377

Pathogenic/Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Multiple Submitters
No Conflicts

rs_780184251

2 SubmittersRCV000988966

NM_002109.6(HARS1):c.1393A>C (p.Ile465Leu)

SNV
Germline

Chr5:140674744

Conflicting classifications of pathogenicity

11 conditions
Usher syndrome type 3B
Spastic ataxia
Peripheral neuropathy
HARS1-related disorder

Criteria Provided
Conflicting Classifications

rs_754304255

4 SubmittersRCV001007622 RCV001246783 RCV001644878 RCV001814247 RCV003973002

NM_002109.6(HARS1):c.616G>T (p.Asp206Tyr)

SNV
Germline

Chr5:140677922

Pathogenic

10 conditions
Spastic ataxia

Criteria Provided
Single Submitter

rs_1131040

1 SubmittersRCV001007619 RCV001644875

NM_014363.6(SACS):c.964G>T (p.Glu322Ter)

SNV
Germline

Chr13:23355648

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

rs_1593145590

1 SubmittersRCV000991449

NM_014363.6(SACS):c.13273G>A (p.Gly4425Arg)

SNV
Germline

Chr13:23330603

Conflicting classifications of pathogenicity

Condition: not provided
Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_754693143

3 SubmittersRCV000992778 RCV001832305 RCV002549808

NM_014363.6(SACS):c.11309C>G (p.Ala3770Gly)

SNV
Germline

Chr13:23332567

Conflicting classifications of pathogenicity

Condition: not provided
Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_1170997950

3 SubmittersRCV000992776 RCV001827137 RCV003750836

NM_014363.6(SACS):c.11302A>G (p.Thr3768Ala)

SNV
Germline

Chr13:23332574

Conflicting classifications of pathogenicity

Condition: not provided
Charlevoix-Saguenay spastic ataxia
Spastic paraplegia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_774463808

4 SubmittersRCV000992775 RCV001827136 RCV002549807 RCV002549806

NM_014363.6(SACS):c.11301A>T (p.Lys3767Asn)

SNV
Germline

Chr13:23332575

Conflicting classifications of pathogenicity

Condition: not provided
Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_762041995

3 SubmittersRCV000992774 RCV001274919 RCV001858755

NM_014363.6(SACS):c.9677A>G (p.Tyr3226Cys)

SNV
Germline

Chr13:23334199

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Condition: not provided
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_776143384

3 SubmittersRCV001273197 RCV000992802 RCV002549812

NM_014363.6(SACS):c.9359G>T (p.Arg3120Leu)

SNV
Germline

Chr13:23334517

Conflicting classifications of pathogenicity

Condition: not provided
Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_569955570

3 SubmittersRCV000992801 RCV001274924 RCV002549811

NM_014363.6(SACS):c.6518T>C (p.Ile2173Thr)

SNV
Germline

Chr13:23337358

Conflicting classifications of pathogenicity

Condition: not provided
Spastic paraplegia
Charlevoix-Saguenay spastic ataxia

Criteria Provided
Conflicting Classifications

rs_368624188

5 SubmittersRCV000992795 RCV001245042 RCV001111735

NM_014363.6(SACS):c.6364A>G (p.Lys2122Glu)

SNV
Germline

Chr13:23337512

Conflicting classifications of pathogenicity

Condition: not provided
Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_755723511

5 SubmittersRCV000992793 RCV001362985 RCV001784523 RCV004030146

NM_014363.6(SACS):c.2686C>T (p.Leu896Phe)

SNV
Germline

Chr13:23341190

Conflicting classifications of pathogenicity

Condition: not provided
Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_760556327

3 SubmittersRCV000992785 RCV001832307 RCV002549810

NM_014363.6(SACS):c.2182C>G (p.Arg728Gly)

SNV
Germline

Chr13:23353788

Conflicting classifications of pathogenicity

Condition: not provided
Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_752059006

3 SubmittersRCV000992782 RCV001277266 RCV002550646

NM_014363.6(SACS):c.1498G>A (p.Val500Ile)

SNV
Germline

Chr13:23355114

Conflicting classifications of pathogenicity

Condition: not provided
Spastic paraplegia
Charlevoix-Saguenay spastic ataxia

Criteria Provided
Conflicting Classifications

rs_1244967438

3 SubmittersRCV000992780 RCV002550645 RCV001827138

NM_014363.6(SACS):c.1310C>T (p.Thr437Met)

SNV
Germline

Chr13:23355302

Conflicting classifications of pathogenicity

Condition: not provided
Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_199657817

3 SubmittersRCV000992777 RCV001832304 RCV002550644

NM_014363.6(SACS):c.7150G>A (p.Glu2384Lys)

SNV
Germline

Chr13:23336726

Conflicting classifications of pathogenicity

Condition: not provided
Charlevoix-Saguenay spastic ataxia
Spastic paraplegia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_762896797

6 SubmittersRCV000995035 RCV001115057 RCV001242408 RCV001847126

NM_014363.6(SACS):c.5711C>G (p.Thr1904Arg)

SNV
Germline

Chr13:23338165

Conflicting classifications of pathogenicity

Condition: not provided
Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_758570844

5 SubmittersRCV000995038 RCV001419225 RCV001578936 RCV002549896

NM_006612.6(KIF1C):c.447C>T (p.Ile149=)

SNV
Germline

Chr17:5002481

Conflicting classifications of pathogenicity

Condition: not provided
Spastic ataxia 2

Criteria Provided
Conflicting Classifications

rs_767820925

2 SubmittersRCV000996457 RCV002549938

NM_014363.6(SACS):c.10546C>T (p.Gln3516Ter)

SNV
Germline

Chr13:23333330

Pathogenic/Likely pathogenic

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1593123432

2 SubmittersRCV001004402 RCV003750840

NM_014363.6(SACS):c.13614C>A (p.Tyr4538Ter)

SNV
Germline

Chr13:23330262

Pathogenic

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

rs_927804920

2 SubmittersRCV001045016 RCV001832428

NM_014363.6(SACS):c.5785C>T (p.Arg1929Trp)

SNV
Germline

Chr13:23338091

Conflicting classifications of pathogenicity

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia

Criteria Provided
Conflicting Classifications

rs_141019064

4 SubmittersRCV001064907 RCV001115152

NM_014363.6(SACS):c.5428C>T (p.Gln1810Ter)

SNV
Germline

Chr13:23338448

Pathogenic/Likely pathogenic

Spastic paraplegia
Condition: not provided
Charlevoix-Saguenay spastic ataxia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1868872666

3 SubmittersRCV001039830 RCV001289179 RCV001785771

NM_014363.6(SACS):c.5045G>A (p.Arg1682Lys)

SNV
Germline

Chr13:23338831

Conflicting classifications of pathogenicity

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Condition: not provided
Inborn genetic diseases
SACS-related disorder

Criteria Provided
Conflicting Classifications

rs_1269546947

5 SubmittersRCV001043294 RCV001832412 RCV002280151 RCV003160304 RCV003953443

NM_014363.6(SACS):c.1201C>T (p.Arg401Ter)

SNV
Germline

Chr13:23355411

Pathogenic/Likely pathogenic

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia

Criteria Provided
Multiple Submitters
No Conflicts

rs_769212398

4 SubmittersRCV001046270 RCV001261525

NM_014363.6(SACS):c.175T>A (p.Ser59Thr)

SNV
Germline

Chr13:23371162

Conflicting classifications of pathogenicity

Spastic paraplegia
Condition: not provided
Charlevoix-Saguenay spastic ataxia
Inborn genetic diseases
SACS-related disorder

Criteria Provided
Conflicting Classifications

rs_539836931

6 SubmittersRCV001043293 RCV001759750 RCV001784587 RCV003160303 RCV003953442

NM_006612.6(KIF1C):c.527C>T (p.Pro176Leu)

SNV
Germline

Chr17:5002561

Pathogenic/Likely pathogenic

Condition: not provided
Spastic ataxia 2

Criteria Provided
Multiple Submitters
No Conflicts

rs_772475828

3 SubmittersRCV001093146 RCV001219292

NM_006612.6(KIF1C):c.714G>A (p.Ser238=)

SNV
Germline

Chr17:5002836

Conflicting classifications of pathogenicity

Condition: not provided
Spastic ataxia 2
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_368886383

3 SubmittersRCV001093147 RCV001312503 RCV001847154

NM_014363.6(SACS):c.*821A>G

SNV
Germline

Chr13:23329315

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Hereditary spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_145184122

3 SubmittersRCV001114619 RCV001847160 RCV003326541

NM_014363.6(SACS):c.13563T>C (p.Asn4521=)

SNV
Germline

Chr13:23330313

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_766497653

3 SubmittersRCV001111340 RCV001490674

NM_014363.6(SACS):c.13409A>G (p.Asn4470Ser)

SNV
Germline

Chr13:23330467

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_757326594

2 SubmittersRCV001113352 RCV002558130

NM_014363.6(SACS):c.13344C>T (p.Arg4448=)

SNV
Germline

Chr13:23330532

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_200157359

3 SubmittersRCV001113353 RCV001514077

NM_014363.6(SACS):c.12812C>T (p.Pro4271Leu)

SNV
Germline

Chr13:23331064

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_779668584

2 SubmittersRCV001114728 RCV003117762

NM_014363.6(SACS):c.12765G>A (p.Arg4255=)

SNV
Germline

Chr13:23331111

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_139692779

3 SubmittersRCV001114729 RCV001416509

NM_014363.6(SACS):c.12693T>C (p.Tyr4231=)

SNV
Germline

Chr13:23331183

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_1163399365

2 SubmittersRCV001114731 RCV003750853

NM_014363.6(SACS):c.12647A>G (p.Asp4216Gly)

SNV
Germline

Chr13:23331229

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_550068559

3 SubmittersRCV001114732 RCV001419743

NM_014363.6(SACS):c.10485G>A (p.Glu3495=)

SNV
Germline

Chr13:23333391

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_757255802

3 SubmittersRCV001114845 RCV001472210

NM_014363.6(SACS):c.10096C>T (p.His3366Tyr)

SNV
Germline

Chr13:23333780

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_1388546547

2 SubmittersRCV001111537 RCV002556175

NM_014363.6(SACS):c.9903G>T (p.Leu3301=)

SNV
Germline

Chr13:23333973

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia
not specified

Criteria Provided
Conflicting Classifications

rs_563145604

4 SubmittersRCV001111539 RCV001477623 RCV001664692

NM_014363.6(SACS):c.9283C>G (p.Pro3095Ala)

SNV
Germline

Chr13:23334593

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_201899988

2 SubmittersRCV001113534 RCV002558133

NM_014363.6(SACS):c.8853T>G (p.Val2951=)

SNV
Germline

Chr13:23335023

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_9552929

3 SubmittersRCV001114947 RCV001489757

NM_014363.6(SACS):c.8191C>T (p.Arg2731Cys)

SNV
Germline

Chr13:23335685

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_772072343

2 SubmittersRCV001111635 RCV002558116

NM_014363.6(SACS):c.7614A>C (p.Ala2538=)

SNV
Germline

Chr13:23336262

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_142697365

3 SubmittersRCV001112100 RCV001454999

NM_014363.6(SACS):c.7601G>A (p.Ser2534Asn)

SNV
Germline

Chr13:23336275

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_750491874

2 SubmittersRCV001112101 RCV002556188

NM_014363.6(SACS):c.7394C>T (p.Ser2465Leu)

SNV
Germline

Chr13:23336482

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Condition: not provided
Spastic paraplegia
Hereditary spastic paraplegia
not specified

Criteria Provided
Conflicting Classifications

rs_747676277

10 SubmittersRCV001115054 RCV001269831 RCV001247856 RCV001847161 RCV003387965

NM_014363.6(SACS):c.7376T>C (p.Met2459Thr)

SNV
Germline

Chr13:23336500

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_767864000

2 SubmittersRCV001115055 RCV002556257

NM_014363.6(SACS):c.7147C>T (p.Arg2383Cys)

SNV
Germline

Chr13:23336729

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_772611372

2 SubmittersRCV001109416 RCV002556142

NM_014363.6(SACS):c.5466T>C (p.Thr1822=)

SNV
Germline

Chr13:23338410

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_757576348

2 SubmittersRCV001115155 RCV002556259

NM_014363.6(SACS):c.5043C>T (p.His1681=)

SNV
Germline

Chr13:23338833

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_1868915593

2 SubmittersRCV001109530 RCV002555066

NM_014363.6(SACS):c.4986G>A (p.Thr1662=)

SNV
Germline

Chr13:23338890

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_755523201

3 SubmittersRCV001109531 RCV001425988

NM_014363.6(SACS):c.4255A>G (p.Ile1419Val)

SNV
Germline

Chr13:23339621

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Condition: not provided
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_138245586

4 SubmittersRCV001111813 RCV001289170 RCV001482679

NM_014363.6(SACS):c.4015A>C (p.Ile1339Leu)

SNV
Germline

Chr13:23339861

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Hereditary spastic paraplegia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_143144795

4 SubmittersRCV001112285 RCV001847159 RCV001523475

NM_014363.6(SACS):c.3346G>A (p.Gly1116Ser)

SNV
Germline

Chr13:23340530

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_774044532

2 SubmittersRCV001113628 RCV002556214

NM_014363.6(SACS):c.2791A>T (p.Asn931Tyr)

SNV
Germline

Chr13:23341085

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_190383030

5 SubmittersRCV001111914 RCV001479507 RCV002556181

NM_014363.6(SACS):c.2488G>A (p.Asp830Asn)

SNV
Germline

Chr13:23341388

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_571646732

2 SubmittersRCV001112373 RCV002556195

NM_014363.6(SACS):c.1444C>G (p.Leu482Val)

SNV
Germline

Chr13:23355168

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_141487769

2 SubmittersRCV001109713 RCV002069778

NM_014363.6(SACS):c.1259T>C (p.Ile420Thr)

SNV
Germline

Chr13:23355353

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Inborn genetic diseases
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_761791412

3 SubmittersRCV001112020 RCV002555083 RCV002556187

NM_014363.6(SACS):c.447G>A (p.Ala149=)

SNV
Germline

Chr13:23365176

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_145681117

3 SubmittersRCV001113813 RCV001489166

NM_014363.6(SACS):c.60C>T (p.Cys20=)

SNV
Germline

Chr13:23375230

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_932552006

3 SubmittersRCV001109790 RCV001462819

NM_016035.5(COQ4):c.305G>A (p.Arg102His)

SNV
Germline

Chr9:128325784

Pathogenic

Spastic ataxia
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
Spastic ataxia 10, autosomal recessive

Criteria Provided
Single Submitter

rs_929713295

2 SubmittersRCV001644928 RCV001374711 RCV003482334

NM_016035.5(COQ4):c.577C>T (p.Pro193Ser)

SNV
Germline

Chr9:128332894

Conflicting classifications of pathogenicity

Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
Spastic ataxia

Criteria Provided
Conflicting Classifications

rs_568200779

3 SubmittersRCV001374710 RCV001644929

NM_000153.4(GALC):c.673G>A (p.Ala225Thr)

SNV
Germline

Chr14:87976437

Conflicting classifications of pathogenicity

Galactosylceramide beta-galactosidase deficiency
Spastic ataxia
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1436074042

6 SubmittersRCV001195147 RCV001644930 RCV001508371

NM_014363.6(SACS):c.5143A>T (p.Lys1715Ter)

SNV
Germline

Chr13:23338733

Pathogenic

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

rs_755824618

4 SubmittersRCV001174760 RCV001387163

NM_014363.6(SACS):c.4724G>A (p.Arg1575Gln)

SNV
Germline

Chr13:23339152

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Condition: not provided
Spastic paraplegia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_764992284

4 SubmittersRCV001195790 RCV003482337 RCV002559244 RCV002560209

NM_014363.6(SACS):c.11048A>G (p.Asn3683Ser)

SNV
Germline

Chr13:23332828

Conflicting classifications of pathogenicity

Condition: not provided
Spastic paraplegia
Charlevoix-Saguenay spastic ataxia

Criteria Provided
Conflicting Classifications

rs_138609508

3 SubmittersRCV001200357 RCV001491334 RCV001780106

NM_014363.6(SACS):c.23G>A (p.Trp8Ter)

SNV
Germline

Chr13:23375267

Pathogenic/Likely pathogenic

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1871684539

2 SubmittersRCV001215300 RCV003473764

NM_014363.6(SACS):c.13694C>A (p.Ala4565Asp)

SNV
Germline

Chr13:23330182

Conflicting classifications of pathogenicity

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia

Criteria Provided
Conflicting Classifications

rs_375722463

3 SubmittersRCV001207368 RCV001833823

NM_014363.6(SACS):c.9275A>T (p.Tyr3092Phe)

SNV
Germline

Chr13:23334601

Conflicting classifications of pathogenicity

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_139579036

5 SubmittersRCV001212079 RCV001780126 RCV001507816 RCV003363166

NM_014363.6(SACS):c.5582G>A (p.Trp1861Ter)

SNV
Germline

Chr13:23338294

Pathogenic/Likely pathogenic

Spastic paraplegia
Condition: not provided
Charlevoix-Saguenay spastic ataxia

Criteria Provided
Multiple Submitters
No Conflicts

rs_946368716

4 SubmittersRCV001207414 RCV002462358 RCV003469338

NM_005236.3(ERCC4):c.2248C>T (p.Arg750Cys)

SNV
Germline

Chr16:13947844

Conflicting classifications of pathogenicity

Fanconi anemia complementation group Q
Xeroderma pigmentosum, group F
Cockayne syndrome
Spastic ataxia

Criteria Provided
Conflicting Classifications

rs_374978891

2 SubmittersRCV001211525 RCV001644951

NM_014363.6(SACS):c.4814G>C (p.Ser1605Thr)

SNV
Germline

Chr13:23339062

Conflicting classifications of pathogenicity

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_770007806

3 SubmittersRCV001225970 RCV001828802 RCV001847199

NM_024306.5(FA2H):c.965C>T (p.Ser322Leu)

SNV
Germline

Chr16:74716421

Conflicting classifications of pathogenicity

Spastic paraplegia
Spastic ataxia
Hereditary spastic paraplegia 35
not specified

Criteria Provided
Conflicting Classifications

rs_373010581

4 SubmittersRCV001235650 RCV001644956 RCV002471051 RCV003155377

NM_014363.6(SACS):c.10076C>T (p.Thr3359Ile)

SNV
Germline

Chr13:23333800

Conflicting classifications of pathogenicity

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia

Criteria Provided
Conflicting Classifications

rs_368089670

4 SubmittersRCV001246542 RCV001328751

NM_014363.6(SACS):c.9947A>C (p.Gln3316Pro)

SNV
Germline

Chr13:23333929

Conflicting classifications of pathogenicity

Spastic paraplegia
Hereditary spastic paraplegia
Charlevoix-Saguenay spastic ataxia

Criteria Provided
Conflicting Classifications

rs_775506976

3 SubmittersRCV001247263 RCV001847210 RCV001830006

NM_014363.6(SACS):c.9251T>C (p.Ile3084Thr)

SNV
Germline

Chr13:23334625

Conflicting classifications of pathogenicity

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_149290718

4 SubmittersRCV001240147 RCV001780177 RCV001507817

NM_014363.6(SACS):c.5903C>T (p.Ala1968Val)

SNV
Germline

Chr13:23337973

Conflicting classifications of pathogenicity

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_201866523

4 SubmittersRCV001242782 RCV001780180 RCV001732089 RCV002564044

NM_014363.6(SACS):c.3443A>C (p.Lys1148Thr)

SNV
Germline

Chr13:23340433

Conflicting classifications of pathogenicity

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_140028127

3 SubmittersRCV001243638 RCV001835177 RCV004034757

NM_014363.6(SACS):c.2926C>T (p.Arg976Cys)

SNV
Germline

Chr13:23340950

Conflicting classifications of pathogenicity

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_139993038

3 SubmittersRCV001239667 RCV001828927 RCV002567936

NM_006796.3(AFG3L2):c.1858C>A (p.Gln620Lys)

SNV
Germline

Chr18:12340323

Pathogenic

Spastic ataxia 5

No Assertion Criteria Provided

rs_1907907851

1 SubmittersRCV001253808

NM_006796.3(AFG3L2):c.916A>G (p.Lys306Glu)

SNV
Germline

Chr18:12358780

Pathogenic

Spastic ataxia 5

No Assertion Criteria Provided

rs_1908569446

1 SubmittersRCV001253816

NM_014363.6(SACS):c.4933C>T (p.Arg1645Ter)

SNV
Germline

Chr13:23338943

Pathogenic

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

rs_770901638

5 SubmittersRCV001255708 RCV001383726

NM_032756.4(HPDL):c.149G>A (p.Gly50Asp)

SNV
Germline

Chr1:45327297

Pathogenic

Spastic paraplegia
Spastic paraplegia 83, autosomal recessive
Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities
Condition: not provided
Spastic ataxia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1391712320

6 SubmittersRCV001849493 RCV001258386 RCV004557495 RCV001268812 RCV001819964

NM_014363.6(SACS):c.11914C>T (p.Arg3972Ter)

SNV
Germline

Chr13:23331962

Pathogenic/Likely pathogenic

Condition: not provided
Spastic paraplegia
Charlevoix-Saguenay spastic ataxia

Criteria Provided
Multiple Submitters
No Conflicts

rs_781491486

3 SubmittersRCV001268846 RCV002541639 RCV002499459

NM_014363.6(SACS):c.12538G>T (p.Glu4180Ter)

SNV
Unknown

Chr13:23331338

Pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

rs_2137557832

1 SubmittersRCV001391383

NM_014363.6(SACS):c.12268C>A (p.His4090Asn)

SNV
Unknown

Chr13:23331608

Pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

rs_2137559913

1 SubmittersRCV001391382

NM_014363.6(SACS):c.12014T>C (p.Leu4005Pro)

SNV
Unknown

Chr13:23331862

Pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

rs_2137561906

1 SubmittersRCV001391381

NM_014363.6(SACS):c.7274G>C (p.Arg2425Pro)

SNV
Unknown

Chr13:23336602

Pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

rs_771583552

1 SubmittersRCV001391624

NM_014363.6(SACS):c.6650C>A (p.Pro2217Gln)

SNV
Germline

Chr13:23337226

Pathogenic/Likely pathogenic

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1868700605

2 SubmittersRCV001391623 RCV001880217

NM_014363.6(SACS):c.6126C>A (p.Cys2042Ter)

SNV
Unknown

Chr13:23337750

Pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

rs_761655321

1 SubmittersRCV001391622

NM_014363.6(SACS):c.5761T>G (p.Tyr1921Asp)

SNV
Unknown

Chr13:23338115

Pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

rs_2137616027

1 SubmittersRCV001391621

NM_014363.6(SACS):c.4724G>C (p.Arg1575Pro)

SNV
Unknown

Chr13:23339152

Pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

rs_764992284

1 SubmittersRCV001391619

NM_014363.6(SACS):c.4718T>G (p.Met1573Arg)

SNV
Unknown

Chr13:23339158

Pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

rs_2137625077

1 SubmittersRCV001391618

NM_006612.6(KIF1C):c.445A>T (p.Ile149Phe)

SNV
Unknown

Chr17:5002479

Pathogenic

Spastic ataxia 2

Criteria Provided
Single Submitter

rs_2143312682

1 SubmittersRCV001391533

NM_014363.6(SACS):c.12190C>A (p.Pro4064Thr)

SNV
Germline

Chr13:23331686

Conflicting classifications of pathogenicity

Condition: not provided
Charlevoix-Saguenay spastic ataxia
Spastic paraplegia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_200707453

5 SubmittersRCV001288699 RCV001835372 RCV002541790 RCV002542996

NM_014363.6(SACS):c.12130G>C (p.Gly4044Arg)

SNV
Germline

Chr13:23331746

Conflicting classifications of pathogenicity

Condition: not provided
Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_753511073

3 SubmittersRCV001288698 RCV001835371 RCV002542995

NM_014363.6(SACS):c.11887A>G (p.Met3963Val)

SNV
Germline

Chr13:23331989

Conflicting classifications of pathogenicity

Condition: not provided
Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_375613914

3 SubmittersRCV001288697 RCV001830099 RCV002541789

NM_014363.6(SACS):c.11109C>T (p.Ser3703=)

SNV
Germline

Chr13:23332767

Conflicting classifications of pathogenicity

Condition: not provided
Spastic paraplegia
Charlevoix-Saguenay spastic ataxia

Criteria Provided
Conflicting Classifications

rs_1883570677

3 SubmittersRCV001288695 RCV001454515 RCV001780235

NM_014363.6(SACS):c.10787C>T (p.Ser3596Phe)

SNV
Germline

Chr13:23333089

Conflicting classifications of pathogenicity

Condition: not provided
Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_755172172

3 SubmittersRCV001288372 RCV001836255 RCV003750861

NM_014363.6(SACS):c.10158A>G (p.Ala3386=)

SNV
Germline

Chr13:23333718

Conflicting classifications of pathogenicity

Condition: not provided
Spastic paraplegia
Charlevoix-Saguenay spastic ataxia

Criteria Provided
Conflicting Classifications

rs_775633710

3 SubmittersRCV001288367 RCV001398932 RCV001780234

NM_014363.6(SACS):c.8192G>A (p.Arg2731His)

SNV
Germline

Chr13:23335684

Conflicting classifications of pathogenicity

Condition: not provided
Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_201127191

6 SubmittersRCV001287918 RCV001328753 RCV002537966

NM_014363.6(SACS):c.6778A>G (p.Ile2260Val)

SNV
Germline

Chr13:23337098

Conflicting classifications of pathogenicity

Condition: not provided
Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_202110208

3 SubmittersRCV001287910 RCV001830092 RCV002537965

NM_014363.6(SACS):c.4913G>A (p.Ser1638Asn)

SNV
Germline

Chr13:23338963

Conflicting classifications of pathogenicity

Condition: not provided
Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_774163551

3 SubmittersRCV001289176 RCV001830108 RCV002537985

NM_014363.6(SACS):c.4840T>C (p.Phe1614Leu)

SNV
Germline

Chr13:23339036

Conflicting classifications of pathogenicity

Condition: not provided
Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_771080306

3 SubmittersRCV001289174 RCV001830107 RCV003588737

NM_014363.6(SACS):c.4299G>A (p.Trp1433Ter)

SNV
Germline

Chr13:23339577

Likely pathogenic

Condition: not provided
Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

rs_768209419

2 SubmittersRCV001289171 RCV001830105

NM_014363.6(SACS):c.2806C>A (p.Gln936Lys)

SNV
Germline

Chr13:23341070

Conflicting classifications of pathogenicity

Condition: not provided
Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_61978562

3 SubmittersRCV001288712 RCV001830102 RCV002069552

NM_014363.6(SACS):c.2585C>T (p.Pro862Leu)

SNV
Germline

Chr13:23341291

Conflicting classifications of pathogenicity

Condition: not provided
Charlevoix-Saguenay spastic ataxia
Spastic paraplegia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_776290829

5 SubmittersRCV001288711 RCV001830101 RCV002541792 RCV002537977

NM_014363.6(SACS):c.1387C>A (p.His463Asn)

SNV
Germline

Chr13:23355225

Conflicting classifications of pathogenicity

Condition: not provided
Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_149951538

3 SubmittersRCV001288707 RCV001830100 RCV003588736

NM_000081.4(LYST):c.9616G>C (p.Asp3206His)

SNV
Germline

Chr1:235716723

Conflicting classifications of pathogenicity

Chédiak-Higashi syndrome
Spastic ataxia

Criteria Provided
Conflicting Classifications

rs_746911004

2 SubmittersRCV001319842 RCV001644984

NM_000702.4(ATP1A2):c.2285-2A>C

SNV
Unknown

Chr1:160135837

Pathogenic

Spastic ataxia

Criteria Provided
Single Submitter

rs_2101995423

1 SubmittersRCV001647244

NM_018122.5(DARS2):c.416T>C (p.Ile139Thr)

SNV
Unknown

Chr1:173831554

Likely pathogenic

Spastic ataxia

Criteria Provided
Single Submitter

rs_1279409996

1 SubmittersRCV001647157

NM_020435.4(GJC2):c.302G>T (p.Arg101Leu)

SNV
Germline

Chr1:228158060

Conflicting classifications of pathogenicity

Spastic ataxia
Hypomyelinating leukodystrophy 2
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_375288744

3 SubmittersRCV001647154 RCV002298930 RCV002546241

NM_001020658.2(PUM1):c.221G>A (p.Arg74His)

SNV
Unknown

Chr1:31059346

Likely pathogenic

Spastic ataxia

Criteria Provided
Single Submitter

rs_2124008235

1 SubmittersRCV001647256

NM_001365792.1(DAB1):c.763C>T (p.Pro255Ser)

SNV
Unknown

Chr1:57026004

Likely pathogenic

Spastic ataxia

Criteria Provided
Single Submitter

rs_1646774558

1 SubmittersRCV001647225

NM_000726.5(CACNB4):c.615A>T (p.Lys205Asn)

SNV
Unknown

Chr2:151870845

Likely pathogenic

Spastic ataxia

Criteria Provided
Single Submitter

rs_2151410142

1 SubmittersRCV001647152

NM_001040142.2(SCN2A):c.5114T>C (p.Ile1705Thr)

SNV
Germline

Chr2:165388920

Conflicting classifications of pathogenicity

Spastic ataxia
Seizures, benign familial infantile, 3
Developmental and epileptic encephalopathy, 11
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_2105402552

3 SubmittersRCV001647222 RCV002298931 RCV003234046

NM_001244008.2(KIF1A):c.1139G>A (p.Arg380Gln)

SNV
Germline

Chr2:240773155

Conflicting classifications of pathogenicity

Neuropathy, hereditary sensory, type 2C
Hereditary spastic paraplegia 30
Intellectual disability, autosomal dominant 9
Spastic ataxia

Criteria Provided
Conflicting Classifications

rs_759791775

2 SubmittersRCV001859247 RCV001647221

NM_182961.4(SYNE1):c.706C>T (p.Arg236Ter)

SNV
Germline

Chr6:152505273

Pathogenic

Spastic ataxia
Autosomal recessive ataxia, Beauce type
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
SYNE1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_2154331501

4 SubmittersRCV001647253 RCV001863182 RCV003323858 RCV004531115

NM_022726.4(ELOVL4):c.571A>T (p.Ile191Phe)

SNV
Unknown

Chr6:79919518

Likely pathogenic

Spastic ataxia

Criteria Provided
Single Submitter

rs_2127698054

1 SubmittersRCV001647218

NM_153704.6(TMEM67):c.2081C>A (p.Thr694Asn)

SNV
Unknown

Chr8:93797451

Likely pathogenic

Spastic ataxia

Criteria Provided
Single Submitter

rs_2130735756

1 SubmittersRCV001647250

NM_001032221.6(STXBP1):c.298C>T (p.Arg100Trp)

SNV
Germline

Chr9:127660081

Conflicting classifications of pathogenicity

Spastic ataxia
Early infantile epileptic encephalopathy with suppression bursts
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_764758291

3 SubmittersRCV001647179 RCV001871792 RCV002438759

NM_001032221.6(STXBP1):c.434A>G (p.Tyr145Cys)

SNV
Germline

Chr9:127663209

Pathogenic/Likely pathogenic

Spastic ataxia
Early infantile epileptic encephalopathy with suppression bursts
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_2131462357

3 SubmittersRCV001647178 RCV001859245 RCV002286839

NM_001130438.3(SPTAN1):c.4870C>T (p.Arg1624Cys)

SNV
Unknown

Chr9:128611810

Likely pathogenic

Spastic ataxia

Criteria Provided
Single Submitter

rs_1856600618

1 SubmittersRCV001647145

NM_015046.7(SETX):c.5540C>T (p.Thr1847Met)

SNV
Unknown

Chr9:132300638

Likely pathogenic

Spastic ataxia

Criteria Provided
Single Submitter

rs_763859485

1 SubmittersRCV001647217

NM_015046.7(SETX):c.482T>G (p.Val161Gly)

SNV
Unknown

Chr9:132342706

Likely pathogenic

Spastic ataxia

Criteria Provided
Single Submitter

rs_1848052674

1 SubmittersRCV001647247

NM_018109.4(MTPAP):c.1464A>C (p.Lys488Asn)

SNV
Unknown

Chr10:30313894

Likely pathogenic

Spastic ataxia

Criteria Provided
Single Submitter

rs_1330765515

1 SubmittersRCV001647216

NM_014363.6(SACS):c.2927G>A (p.Arg976His)

SNV
Germline

Chr13:23340949

Conflicting classifications of pathogenicity

Spastic ataxia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_751415868

2 SubmittersRCV001647189 RCV002546246

NM_181503.3(EXOSC8):c.269C>G (p.Ser90Ter)

SNV
Unknown

Chr13:37005950

Pathogenic

Spastic ataxia

Criteria Provided
Single Submitter

rs_749829526

1 SubmittersRCV001647191

NM_182914.3(SYNE2):c.15142C>G (p.Gln5048Glu)

SNV
Germline

Chr14:64141506

Conflicting classifications of pathogenicity

Spastic ataxia
Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Criteria Provided
Conflicting Classifications

rs_2153692395

2 SubmittersRCV001647185 RCV002546244

NM_000153.4(GALC):c.797C>T (p.Thr266Ile)

SNV
Unknown

Chr14:87968446

Likely pathogenic

Spastic ataxia

Criteria Provided
Single Submitter

rs_867226993

1 SubmittersRCV001647255

NM_001080414.4(CCDC88C):c.3195+6T>C

SNV
Unknown

Chr14:91307032

Likely pathogenic

Spastic ataxia

Criteria Provided
Single Submitter

rs_2139788894

1 SubmittersRCV001647219

NM_001080414.4(CCDC88C):c.821C>T (p.Thr274Ile)

SNV
Unknown

Chr14:91338559

Likely pathogenic

Spastic ataxia

Criteria Provided
Single Submitter

rs_1324937983

1 SubmittersRCV001647214

NM_017882.3(CLN6):c.665+1G>T

SNV
Unknown

Chr15:68209636

Likely pathogenic

Spastic ataxia

Criteria Provided
Single Submitter

rs_796052356

1 SubmittersRCV001647223

NM_006086.4(TUBB3):c.1024G>A (p.Val342Met)

SNV
Unknown

Chr16:89935475

Likely pathogenic

Spastic ataxia

Criteria Provided
Single Submitter

rs_1210717639

1 SubmittersRCV001647245

NM_018896.5(CACNA1G):c.2740G>A (p.Val914Ile)

SNV
Unknown

Chr17:50591839

Likely pathogenic

Spastic ataxia

Criteria Provided
Single Submitter

rs_1051546563

1 SubmittersRCV001647151

NM_018896.5(CACNA1G):c.5395T>A (p.Ser1799Thr)

SNV
Unknown

Chr17:50618311

Likely pathogenic

Spastic ataxia

Criteria Provided
Single Submitter

rs_2146284067

1 SubmittersRCV001647186

NM_017777.4(MKS1):c.308T>C (p.Leu103Ser)

SNV
Germline

Chr17:58216197

Conflicting classifications of pathogenicity

Spastic ataxia
Meckel-Gruber syndrome
Familial aplasia of the vermis

Criteria Provided
Conflicting Classifications

rs_201574278

2 SubmittersRCV001647188 RCV002546245

NM_006796.3(AFG3L2):c.1895G>A (p.Arg632Gln)

SNV
Unknown

Chr18:12340286

Likely pathogenic

Spastic ataxia

Criteria Provided
Single Submitter

rs_1320367366

1 SubmittersRCV001647156

NM_006796.3(AFG3L2):c.1712T>G (p.Val571Gly)

SNV
Unknown

Chr18:12344199

Likely pathogenic

Spastic ataxia

Criteria Provided
Single Submitter

rs_753148089

1 SubmittersRCV001647161

NM_001130823.3(DNMT1):c.4636C>T (p.Pro1546Ser)

SNV
Unknown

Chr19:10136141

Likely pathogenic

Spastic ataxia

Criteria Provided
Single Submitter

rs_1555687655

1 SubmittersRCV001647249

NM_001130823.3(DNMT1):c.3311C>T (p.Ala1104Val)

SNV
Germline

Chr19:10141188

Conflicting classifications of pathogenicity

Spastic ataxia
Autosomal dominant cerebellar ataxia, deafness and narcolepsy

Criteria Provided
Conflicting Classifications

rs_2089593597

2 SubmittersRCV001647187 RCV003448393

NM_001166114.2(PNPLA6):c.629G>A (p.Gly210Asp)

SNV
Unknown

Chr19:7540223

Likely pathogenic

Spastic ataxia

Criteria Provided
Single Submitter

rs_780995803

1 SubmittersRCV001647158

NM_001166114.2(PNPLA6):c.2182C>A (p.Gln728Lys)

SNV
Unknown

Chr19:7551105

Pathogenic

Spastic ataxia

Criteria Provided
Single Submitter

rs_889723987

1 SubmittersRCV001647184

NM_001166114.2(PNPLA6):c.3028G>C (p.Gly1010Arg)

SNV
Germline

Chr19:7555698

Conflicting classifications of pathogenicity

Spastic ataxia
Hereditary spastic paraplegia 39

Criteria Provided
Conflicting Classifications

rs_768107851

2 SubmittersRCV001647153 RCV001859244

NM_001001344.3(ATP2B3):c.130G>A (p.Glu44Lys)

SNV
Unknown

ChrX:153536377

Likely pathogenic

Spastic ataxia

Criteria Provided
Single Submitter

rs_782756404

1 SubmittersRCV001647254

NM_014363.6(SACS):c.8716C>T (p.Arg2906Ter)

SNV
Germline

Chr13:23335160

Pathogenic

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_750732115

8 SubmittersRCV001328754 RCV001386448 RCV001820019

NM_014363.6(SACS):c.11576G>A (p.Arg3859His)

SNV
Germline

Chr13:23332300

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_149427669

2 SubmittersRCV001336179 RCV002547350

NM_014363.6(SACS):c.11092C>T (p.Gln3698Ter)

SNV
Germline

Chr13:23332784

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

rs_1883571494

1 SubmittersRCV002790005

NM_014363.6(SACS):c.2597A>G (p.Lys866Arg)

SNV
Germline

Chr13:23341279

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_761960824

2 SubmittersRCV001336181 RCV002546765

NM_014363.6(SACS):c.10790A>G (p.Gln3597Arg)

SNV
Germline

Chr13:23333086

Conflicting classifications of pathogenicity

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_1299454627

3 SubmittersRCV001359227 RCV001825992 RCV004034523

NM_014363.6(SACS):c.12106A>T (p.Arg4036Ter)

SNV
Germline

Chr13:23331770

Pathogenic

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia

Criteria Provided
Multiple Submitters
No Conflicts

rs_2137561134

2 SubmittersRCV001382083 RCV003399200

NM_014363.6(SACS):c.561C>T (p.Val187=)

SNV
Germline

Chr13:23358378

Conflicting classifications of pathogenicity

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia

Criteria Provided
Conflicting Classifications

rs_758653462

2 SubmittersRCV001392388 RCV003136066

NM_014363.6(SACS):c.9866C>G (p.Ser3289Ter)

SNV
Germline

Chr13:23334010

Pathogenic

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

rs_2137580127

3 SubmittersRCV001421040 RCV003588740

NM_014363.6(SACS):c.8132C>A (p.Ser2711Ter)

SNV
Germline

Chr13:23335744

Pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

rs_1213203489

1 SubmittersRCV001421041

NM_014363.6(SACS):c.8336A>T (p.Gln2779Leu)

SNV
Germline

Chr13:23335540

Conflicting classifications of pathogenicity

Condition: not provided
Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_749327297

3 SubmittersRCV001507818 RCV001780384 RCV001448702

NM_014363.6(SACS):c.13476G>C (p.Val4492=)

SNV
Germline

Chr13:23330400

Conflicting classifications of pathogenicity

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia

Criteria Provided
Conflicting Classifications

rs_370362235

2 SubmittersRCV001475170 RCV001578939

NM_014363.6(SACS):c.9661G>A (p.Val3221Met)

SNV
Germline

Chr13:23334215

Conflicting classifications of pathogenicity

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia

Criteria Provided
Conflicting Classifications

rs_142867964

2 SubmittersRCV001458158 RCV001579252

NM_014363.6(SACS):c.5971G>A (p.Val1991Ile)

SNV
Germline

Chr13:23337905

Conflicting classifications of pathogenicity

Spastic paraplegia
Condition: not provided
Charlevoix-Saguenay spastic ataxia

Criteria Provided
Conflicting Classifications

rs_191995849

3 SubmittersRCV001481775 RCV001508702 RCV001780391

NM_014363.6(SACS):c.11249A>G (p.Asn3750Ser)

SNV
Germline

Chr13:23332627

Conflicting classifications of pathogenicity

Condition: not provided
Charlevoix-Saguenay spastic ataxia
Hereditary spastic paraplegia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_376188585

6 SubmittersRCV001507814 RCV001785821 RCV001847284 RCV001865926

NM_014363.6(SACS):c.3637T>C (p.Leu1213=)

SNV
Germline

Chr13:23340239

Conflicting classifications of pathogenicity

Spastic paraplegia
not specified
Hereditary spastic paraplegia
Condition: not provided
Charlevoix-Saguenay spastic ataxia

Criteria Provided
Conflicting Classifications

rs_577638741

5 SubmittersRCV001517041 RCV001724329 RCV001847292 RCV001727865 RCV001836434

NM_006612.6(KIF1C):c.1959G>A (p.Gln653=)

SNV
Germline

Chr17:5020827

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia
Spastic ataxia 2

Criteria Provided
Conflicting Classifications

rs_759048539

3 SubmittersRCV001532295 RCV001847300 RCV003745340

NM_014363.6(SACS):c.10268T>C (p.Ile3423Thr)

SNV
Germline

Chr13:23333608

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_767281295

2 SubmittersRCV001578934 RCV002570818

NM_014363.6(SACS):c.10255C>T (p.Arg3419Cys)

SNV
Germline

Chr13:23333621

Conflicting classifications of pathogenicity

Condition: not provided
Charlevoix-Saguenay spastic ataxia
Spastic paraplegia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_765758197

4 SubmittersRCV001663542 RCV001832843 RCV002539647 RCV003163787

NM_014363.6(SACS):c.10256G>A (p.Arg3419His)

SNV
Germline

Chr13:23333620

Conflicting classifications of pathogenicity

Condition: not provided
Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_536675517

3 SubmittersRCV001663543 RCV001827567 RCV002538571

NM_014363.6(SACS):c.5630G>A (p.Arg1877Gln)

SNV
Germline

Chr13:23338246

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_772866081

4 SubmittersRCV001663558 RCV001847316 RCV001832845 RCV002538572

NM_014363.6(SACS):c.1814C>T (p.Pro605Leu)

SNV
Germline

Chr13:23354798

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

rs_2137718533

1 SubmittersRCV001729997

NM_014363.6(SACS):c.9805G>A (p.Asp3269Asn)

SNV
Germline

Chr13:23334071

Conflicting classifications of pathogenicity

Condition: not provided
Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_754144089

3 SubmittersRCV001756657 RCV002488511 RCV002543940

NM_006612.6(KIF1C):c.1045C>T (p.Arg349Cys)

SNV
Germline

Chr17:5004880

Conflicting classifications of pathogenicity

Condition: not provided
Spastic ataxia 2

Criteria Provided
Conflicting Classifications

rs_187228739

2 SubmittersRCV001757834 RCV002538750

NM_014363.6(SACS):c.1596T>A (p.Tyr532Ter)

SNV
Unknown

Chr13:23355016

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

rs_2137720760

1 SubmittersRCV001775261

NM_014363.6(SACS):c.9653T>G (p.Leu3218Ter)

SNV
Germline

Chr13:23334223

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

rs_2137582138

1 SubmittersRCV001779520

NM_014363.6(SACS):c.7110C>G (p.Tyr2370Ter)

SNV
Germline

Chr13:23336766

Pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

rs_1555251553

1 SubmittersRCV001784933

NM_014363.6(SACS):c.5692G>T (p.Glu1898Ter)

SNV
Germline

Chr13:23338184

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

rs_2137616679

1 SubmittersRCV001783709

NM_014363.6(SACS):c.9791C>G (p.Thr3264Arg)

SNV
Germline

Chr13:23334085

Conflicting classifications of pathogenicity

Condition: not provided
Spastic paraplegia
Charlevoix-Saguenay spastic ataxia

Criteria Provided
Conflicting Classifications

rs_758563983

3 SubmittersRCV001786671 RCV002541247 RCV002506825

NM_014363.6(SACS):c.475T>G (p.Tyr159Asp)

SNV
Germline

Chr13:23358464

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

rs_1305721973

1 SubmittersRCV001843706

NM_014363.6(SACS):c.3836G>A (p.Trp1279Ter)

SNV
Germline

Chr13:23340040

Pathogenic/Likely pathogenic

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

rs_756963289

2 SubmittersRCV001843707 RCV003120717

NM_014363.6(SACS):c.13621T>A (p.Leu4541Met)

SNV
Germline

Chr13:23330255

Conflicting classifications of pathogenicity

not specified
Spastic paraplegia
Inborn genetic diseases
Charlevoix-Saguenay spastic ataxia

Criteria Provided
Conflicting Classifications

rs_769260277

4 SubmittersRCV001844664 RCV002543324 RCV003163995 RCV003339758

NM_014363.6(SACS):c.2564T>C (p.Leu855Ser)

SNV
Germline

Chr13:23341312

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

rs_142037771

3 SubmittersRCV001847529 RCV002482393 RCV002543362

NM_006612.6(KIF1C):c.1023T>C (p.Tyr341=)

SNV
Germline

Chr17:5004858

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Spastic ataxia 2

Criteria Provided
Conflicting Classifications

rs_758863136

2 SubmittersRCV001848492 RCV002543404

NM_006612.6(KIF1C):c.1198G>A (p.Ala400Thr)

SNV
Germline

Chr17:5006947

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Inborn genetic diseases
Spastic ataxia 2

Criteria Provided
Conflicting Classifications

rs_755935386

3 SubmittersRCV001848493 RCV002543405 RCV002543406

NM_006612.6(KIF1C):c.1292C>T (p.Thr431Met)

SNV
Germline

Chr17:5007041

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Spastic ataxia 2

Criteria Provided
Conflicting Classifications

rs_139663513

2 SubmittersRCV001848494 RCV002034763

NM_006612.6(KIF1C):c.702G>C (p.Thr234=)

SNV
Germline

Chr17:5002824

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Spastic ataxia 2

Criteria Provided
Conflicting Classifications

rs_150944204

2 SubmittersRCV001848515 RCV003583200

NM_177400.3(NKX6-2):c.301C>A (p.Arg101Ser)

SNV
Germline

Chr10:132785648

Likely pathogenic

Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy

No Assertion Criteria Provided

rs_1207105923

1 SubmittersRCV001849691

NM_177400.3(NKX6-2):c.571C>T (p.Gln191Ter)

SNV
Germline

Chr10:132785288

Pathogenic

Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy

No Assertion Criteria Provided

rs_2134706311

1 SubmittersRCV001849693

NM_177400.3(NKX6-2):c.592A>G (p.Asn198Asp)

SNV
Germline

Chr10:132785158

Likely pathogenic

Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy

No Assertion Criteria Provided

rs_2134706153

1 SubmittersRCV001849694

NM_177400.3(NKX6-2):c.598C>T (p.Arg200Trp)

SNV
Germline

Chr10:132785152

Pathogenic

Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy

No Assertion Criteria Provided

rs_770310729

1 SubmittersRCV001849695

NM_014363.6(SACS):c.2987T>G (p.Leu996Ter)

SNV
Germline

Chr13:23340889

Pathogenic/Likely pathogenic

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1450257625

2 SubmittersRCV001924150 RCV003471066

NM_006612.6(KIF1C):c.766G>A (p.Asp256Asn)

SNV
Germline

Chr17:5003657

Conflicting classifications of pathogenicity

Spastic ataxia 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_150280414

2 SubmittersRCV001864750 RCV002545883

NM_014363.6(SACS):c.11724C>G (p.Tyr3908Ter)

SNV
Germline

Chr13:23332152

Pathogenic/Likely pathogenic

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia

Criteria Provided
Multiple Submitters
No Conflicts

rs_745740932

2 SubmittersRCV001931462 RCV003471072

NM_014363.6(SACS):c.3484G>T (p.Glu1162Ter)

SNV
Germline

Chr13:23340392

Pathogenic/Likely pathogenic

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1246013998

3 SubmittersRCV001994797 RCV003136371

NM_014363.6(SACS):c.8107C>T (p.Arg2703Cys)

SNV
Germline

Chr13:23335769

Pathogenic/Likely pathogenic

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia

Criteria Provided
Multiple Submitters
No Conflicts

rs_780332615

2 SubmittersRCV001972862 RCV003471188

NM_014363.6(SACS):c.7252G>T (p.Glu2418Ter)

SNV
Germline

Chr13:23336624

Pathogenic/Likely pathogenic

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia

Criteria Provided
Multiple Submitters
No Conflicts

rs_2137602382

2 SubmittersRCV001972740 RCV003475241

NM_016035.5(COQ4):c.202+4A>C

SNV
Germline

Chr9:128323151

Conflicting classifications of pathogenicity

Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
Condition: not provided
Spastic ataxia 10, autosomal recessive
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_777821562

4 SubmittersRCV002043488 RCV002286868 RCV003482396 RCV004046921

NM_014363.6(SACS):c.3745C>T (p.Gln1249Ter)

SNV
Germline

Chr13:23340131

Pathogenic/Likely pathogenic

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1027429746

2 SubmittersRCV001934125 RCV003471087

NM_003119.4(SPG7):c.1861C>T (p.Gln621Ter)

SNV
Germline

Chr16:89553060

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 7
Spastic ataxia

Criteria Provided
Multiple Submitters
No Conflicts

rs_769258044

3 SubmittersRCV002052061 RCV003329432

NM_006796.3(AFG3L2):c.1378G>A (p.Asp460Asn)

SNV
Germline

Chr18:12351354

Pathogenic

Condition: not provided
Optic atrophy 12
Spastic ataxia 5
Spinocerebellar ataxia type 28

Criteria Provided
Single Submitter

rs_2143165387

2 SubmittersRCV002222799 RCV002508979

NM_014363.6(SACS):c.520G>T (p.Glu174Ter)

SNV
Germline

Chr13:23358419

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

rs_2137742889

1 SubmittersRCV002266460

NM_032756.4(HPDL):c.147C>A (p.Ser49Arg)

SNV
Germline

Chr1:45327295

Conflicting classifications of pathogenicity

Inborn genetic diseases
Spastic ataxia

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003096072 RCV002509823

NM_177400.3(NKX6-2):c.516C>G (p.Tyr172Ter)

SNV
Germline

Chr10:132785343

Pathogenic

Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy

Criteria Provided
Single Submitter

rs_2134706418

1 SubmittersRCV002274856

NM_014363.6(SACS):c.4957G>T (p.Glu1653Ter)

SNV
Germline

Chr13:23338919

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

1 SubmittersRCV002281746

NM_014363.6(SACS):c.5296G>T (p.Glu1766Ter)

SNV
Germline

Chr13:23338580

Pathogenic/Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002281768

NM_014363.6(SACS):c.1636C>T (p.Gln546Ter)

SNV
Germline

Chr13:23354976

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

1 SubmittersRCV002288393

NM_014363.6(SACS):c.4723C>T (p.Arg1575Trp)

SNV
Germline

Chr13:23339153

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002289200 RCV003481274

NM_014363.6(SACS):c.1807A>T (p.Lys603Ter)

SNV
Unknown

Chr13:23354805

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002306456

NM_014363.6(SACS):c.1437G>A (p.Trp479Ter)

SNV
Unknown

Chr13:23355175

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

1 SubmittersRCV002309654

NM_014363.6(SACS):c.884T>A (p.Leu295Ter)

SNV
Unknown

Chr13:23355728

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

1 SubmittersRCV002309741

NM_014363.6(SACS):c.1178T>A (p.Leu393Ter)

SNV
Unknown

Chr13:23355434

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

1 SubmittersRCV002307885

NM_014363.6(SACS):c.1455G>A (p.Trp485Ter)

SNV
Unknown

Chr13:23355157

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

1 SubmittersRCV002309096

NM_014363.6(SACS):c.343A>T (p.Lys115Ter)

SNV
Unknown

Chr13:23368404

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

1 SubmittersRCV002306974

NM_014363.6(SACS):c.529A>T (p.Arg177Ter)

SNV
Unknown

Chr13:23358410

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

1 SubmittersRCV002310305

NM_014363.6(SACS):c.1929T>A (p.Cys643Ter)

SNV
Unknown

Chr13:23354683

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

1 SubmittersRCV002310335

NM_006796.3(AFG3L2):c.1749G>A (p.Trp583Ter)

SNV
Germline

Chr18:12344162

Likely pathogenic

Spastic ataxia 5
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV002509896 RCV003146577

NM_014363.6(SACS):c.13352T>C (p.Leu4451Pro)

SNV
Germline

Chr13:23330524

Likely pathogenic

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002624233 RCV004572801

NM_014363.6(SACS):c.11066C>T (p.Pro3689Leu)

SNV
Germline

Chr13:23332810

Conflicting classifications of pathogenicity

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002647476 RCV003485820

NM_006612.6(KIF1C):c.328C>T (p.Arg110Ter)

SNV
Germline

Chr17:5001366

Pathogenic

Spastic ataxia 2

Criteria Provided
Single Submitter

1 SubmittersRCV003104636

NM_006612.6(KIF1C):c.683G>A (p.Arg228His)

SNV
Germline

Chr17:5002805

Conflicting classifications of pathogenicity

Spastic ataxia 2
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

3 SubmittersRCV002590507 RCV003167471 RCV003456535

NM_014363.6(SACS):c.10900C>T (p.Gln3634Ter)

SNV
Germline

Chr13:23332976

Pathogenic/Likely pathogenic

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV002756833 RCV003134495

NM_006612.6(KIF1C):c.2129G>A (p.Arg710His)

SNV
Germline

Chr17:5022210

Conflicting classifications of pathogenicity

Spastic ataxia 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002928630 RCV003250628

NM_014363.6(SACS):c.4018T>C (p.Tyr1340His)

SNV
Germline

Chr13:23339858

Conflicting classifications of pathogenicity

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002932929 RCV003138399

NM_014363.6(SACS):c.10126G>A (p.Ala3376Thr)

SNV
Germline

Chr13:23333750

Conflicting classifications of pathogenicity

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

3 SubmittersRCV002952956 RCV003138408 RCV004067273

NM_014363.6(SACS):c.13350G>A (p.Trp4450Ter)

SNV
Germline

Chr13:23330526

Likely pathogenic

Charlevoix-Saguenay spastic ataxia
Autosomal recessive spastic ataxia

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV002790004 RCV004017968

NM_006612.6(KIF1C):c.2005C>T (p.Arg669Ter)

SNV
Germline

Chr17:5020873

Likely pathogenic

Spastic ataxia 2

Criteria Provided
Single Submitter

1 SubmittersRCV002790018

NM_006612.6(KIF1C):c.41C>T (p.Pro14Leu)

SNV
Unknown

Chr17:5000287

Likely pathogenic

Spastic ataxia 2

Criteria Provided
Single Submitter

1 SubmittersRCV003152962

NM_014363.6(SACS):c.2185+1G>T

SNV
Germline

Chr13:23353784

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

1 SubmittersRCV003227588

NM_014363.6(SACS):c.826C>T (p.Arg276Cys)

SNV
Germline

Chr13:23355786

Pathogenic/Likely pathogenic

Condition: not provided
Spastic paraplegia
Charlevoix-Saguenay spastic ataxia

Criteria Provided
Multiple Submitters
No Conflicts

4 SubmittersRCV003314858 RCV003588887 RCV003444027

NM_014363.6(SACS):c.7106C>T (p.Pro2369Leu)

SNV
Germline

Chr13:23336770

Pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

1 SubmittersRCV003329139

NM_006612.6(KIF1C):c.647G>A (p.Arg216His)

SNV
Germline

Chr17:5002769

Likely pathogenic

Spastic ataxia 2

Criteria Provided
Single Submitter

1 SubmittersRCV003334467

NM_014363.6(SACS):c.13017C>A (p.Asp4339Glu)

SNV
Germline

Chr13:23330859

Pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

1 SubmittersRCV003336692

NM_014363.6(SACS):c.9833G>A (p.Trp3278Ter)

SNV
Unknown

Chr13:23334043

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

1 SubmittersRCV003466310

NM_014363.6(SACS):c.10645G>T (p.Glu3549Ter)

SNV
Unknown

Chr13:23333231

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

1 SubmittersRCV003466311

NM_014363.6(SACS):c.172-2A>G

SNV
Unknown

Chr13:23371167

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

1 SubmittersRCV003466312

NM_014363.6(SACS):c.5515A>T (p.Arg1839Ter)

SNV
Unknown

Chr13:23338361

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

1 SubmittersRCV003466313

NM_014363.6(SACS):c.2503C>T (p.Gln835Ter)

SNV
Unknown

Chr13:23341373

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

1 SubmittersRCV003466314

NM_014363.6(SACS):c.1162C>T (p.Gln388Ter)

SNV
Unknown

Chr13:23355450

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

1 SubmittersRCV003466319

NM_014363.6(SACS):c.155G>A (p.Trp52Ter)

SNV
Unknown

Chr13:23375135

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

1 SubmittersRCV003466321

NM_014363.6(SACS):c.4760A>G (p.His1587Arg)

SNV
Unknown

Chr13:23339116

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

1 SubmittersRCV003466323

NM_014363.6(SACS):c.1229T>A (p.Leu410Ter)

SNV
Germline

Chr13:23355383

Pathogenic/Likely pathogenic

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003466325 RCV003779104

NM_014363.6(SACS):c.4438G>T (p.Glu1480Ter)

SNV
Unknown

Chr13:23339438

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

1 SubmittersRCV003466327

NM_014363.6(SACS):c.171+1G>A

SNV
Unknown

Chr13:23375118

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

1 SubmittersRCV003466330

NM_014363.6(SACS):c.2291G>A (p.Trp764Ter)

SNV
Unknown

Chr13:23341585

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

1 SubmittersRCV003466332

NM_014363.6(SACS):c.1894C>T (p.Arg632Trp)

SNV
Germline

Chr13:23354718

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003466338 RCV003588923

NM_014363.6(SACS):c.13319C>A (p.Ser4440Ter)

SNV
Unknown

Chr13:23330557

Pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

1 SubmittersRCV003466343

NM_014363.6(SACS):c.9106C>T (p.Gln3036Ter)

SNV
Germline

Chr13:23334770

Pathogenic/Likely pathogenic

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003466355 RCV003588925

NM_014363.6(SACS):c.12373G>T (p.Gly4125Ter)

SNV
Unknown

Chr13:23331503

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

1 SubmittersRCV003466357

NM_014363.6(SACS):c.12378C>A (p.Cys4126Ter)

SNV
Unknown

Chr13:23331498

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

1 SubmittersRCV003466358

NM_014363.6(SACS):c.4811G>A (p.Trp1604Ter)

SNV
Unknown

Chr13:23339065

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

1 SubmittersRCV003466359

NM_014363.6(SACS):c.5402C>G (p.Ser1801Ter)

SNV
Unknown

Chr13:23338474

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

1 SubmittersRCV003466362

NM_014363.6(SACS):c.4954C>T (p.Gln1652Ter)

SNV
Unknown

Chr13:23338922

Pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

1 SubmittersRCV003466365

NM_014363.6(SACS):c.239C>G (p.Ser80Ter)

SNV
Unknown

Chr13:23371098

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

1 SubmittersRCV003466369

NM_014363.6(SACS):c.8071A>T (p.Lys2691Ter)

SNV
Unknown

Chr13:23335805

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

1 SubmittersRCV003466375

NM_014363.6(SACS):c.388A>T (p.Lys130Ter)

SNV
Unknown

Chr13:23365235

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

1 SubmittersRCV003466379

NM_014363.6(SACS):c.3130C>T (p.Gln1044Ter)

SNV
Germline

Chr13:23340746

Pathogenic/Likely pathogenic

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003466381 RCV003779105

NM_014363.6(SACS):c.4424C>A (p.Ser1475Ter)

SNV
Unknown

Chr13:23339452

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

1 SubmittersRCV003472568

NM_014363.6(SACS):c.2176C>T (p.Gln726Ter)

SNV
Unknown

Chr13:23353794

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

1 SubmittersRCV003472572

NM_014363.6(SACS):c.3946C>T (p.Gln1316Ter)

SNV
Unknown

Chr13:23339930

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

1 SubmittersRCV003472574

NM_014363.6(SACS):c.12147C>A (p.Cys4049Ter)

SNV
Unknown

Chr13:23331729

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

1 SubmittersRCV003472585

NM_014363.6(SACS):c.2630T>A (p.Leu877Ter)

SNV
Unknown

Chr13:23341246

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

1 SubmittersRCV003472587

NM_016035.5(COQ4):c.745C>T (p.Arg249Trp)

SNV
Germline

Chr9:128333592

Pathogenic

Spastic ataxia 10, autosomal recessive

No Assertion Criteria Provided

1 SubmittersRCV003482894

NM_016035.5(COQ4):c.434G>A (p.Arg145His)

SNV
Germline

Chr9:128332184

Pathogenic

Spastic ataxia 10, autosomal recessive

No Assertion Criteria Provided

1 SubmittersRCV003482895

NM_016035.5(COQ4):c.719G>A (p.Arg240His)

SNV
Germline

Chr9:128333566

Pathogenic

Spastic ataxia 10, autosomal recessive

No Assertion Criteria Provided

1 SubmittersRCV003482896

NM_016035.5(COQ4):c.433C>T (p.Arg145Cys)

SNV
Germline

Chr9:128332183

Pathogenic

Spastic ataxia 10, autosomal recessive

No Assertion Criteria Provided

1 SubmittersRCV003482898

NM_006612.6(KIF1C):c.1491+2T>C

SNV
Germline

Chr17:5007544

Likely pathogenic

Spastic ataxia 2

Criteria Provided
Single Submitter

1 SubmittersRCV003744499

NM_138395.4(MARS2):c.1A>G (p.Met1Val)

SNV
Germline

Chr2:197705406

Likely pathogenic

Autosomal recessive limb-girdle muscular dystrophy
Spastic ataxia 3

Criteria Provided
Single Submitter

1 SubmittersRCV004526344 RCV004579625

NM_014363.6(SACS):c.5627T>A (p.Leu1876Ter)

SNV
Germline

Chr13:23338249

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

1 SubmittersRCV004576161

NM_014363.6(SACS):c.13543C>T (p.Gln4515Ter)

SNV
Unknown

Chr13:23330333

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

1 SubmittersRCV004574813

NM_014363.6(SACS):c.11428G>T (p.Glu3810Ter)

SNV
Unknown

Chr13:23332448

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

1 SubmittersRCV004574816

NM_014363.6(SACS):c.7962T>A (p.Tyr2654Ter)

SNV
Unknown

Chr13:23335914

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

1 SubmittersRCV004573533

NM_014363.6(SACS):c.499G>T (p.Glu167Ter)

SNV
Unknown

Chr13:23358440

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

1 SubmittersRCV004573534

NM_014363.6(SACS):c.1535C>G (p.Ser512Ter)

SNV
Unknown

Chr13:23355077

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

1 SubmittersRCV004573539

NM_014363.6(SACS):c.12454G>T (p.Glu4152Ter)

SNV
Unknown

Chr13:23331422

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

1 SubmittersRCV004573542