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 Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis type 3 Infantile GM1 gangliosidosis GM1 gangliosidosis type 2 Mucopolysaccharidosis, MPS-IV-B Mucopolysaccharidosis, MPS-IV-B GM1 gangliosidosis Infantile GM1 gangliosidosis Spastic ataxia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA114658	rs_72555372	10 SubmittersRCV000000990 RCV000665526 RCV000780302 RCV001223149 RCV001331201 RCV001642195 RCV002225254
NM_000487.6(ARSA):c.868C>T (p.Arg290Cys)	SNV Germline	Chr22:50626265	Pathogenic	Metachromatic leukodystrophy Spastic ataxia Condition: not provided Squamous cell carcinoma of the head and neck	Criteria Provided Multiple Submitters No Conflicts	CA278036	rs_74315473	7 SubmittersRCV000003223 RCV001642197 RCV004819990 RCV005887236
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	13 SubmittersRCV000005848 RCV001268308 RCV001851681 RCV001847584
NM_014363.6(SACS):c.12220G>C (p.Ala4074Pro)	SNV Germline	Chr13:23331656	Pathogenic	Charlevoix-Saguenay spastic ataxia	Criteria Provided Multiple Submitters No Conflicts	CA253511	rs_137853016	3 SubmittersRCV000005849
NM_014363.6(SACS):c.5836T>C (p.Trp1946Arg)	SNV Germline	Chr13:23338040	Pathogenic	Charlevoix-Saguenay spastic ataxia Spastic paraplegia SACS-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA253513	rs_137853017	5 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	5 SubmittersRCV000023380 RCV000414375
NM_014363.6(SACS):c.10907G>A (p.Arg3636Gln)	SNV Germline	Chr13:23332969	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia Spastic paraplegia Condition: not provided	Criteria Provided Conflicting Classifications	CA343112	rs_281865119	7 SubmittersRCV000032007 RCV001244900 RCV004998126
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	13 SubmittersRCV000032008 RCV000487627 RCV001044731
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val)	SNV Germline	Chr16:89546737	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 7 Condition: not provided Spastic Paraplegia, Recessive Spastic paraparesis Dysarthria Gait ataxia Cerebral cortical atrophy Hereditary spastic paraplegia Optic nerve hypoplasia Inborn genetic diseases Intellectual disability Spastic ataxia Sensorimotor neuropathy Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 SPG7-related disorder Retinal dystrophy Ovarian serous cystadenocarcinoma Thymoma Thyroid cancer, nonmedullary, 1 Melanoma Acute myeloid leukemia Uveal melanoma Gastric cancer Lung cancer Familial cancer of breast Hereditary ataxia Uterine corpus endometrial carcinoma Clear cell carcinoma of kidney Sarcoma Hepatocellular carcinoma Cervical cancer Optic neuropathy	Criteria Provided Conflicting Classifications	CA090884	rs_61755320	72 SubmittersRCV000034858 RCV000195683 RCV000270813 RCV000626837 RCV000515835 RCV000677252 RCV000623796 RCV000850200 RCV001003619 RCV002463623 RCV003421943 RCV004814935 RCV005888961 RCV005888962 RCV005888963 RCV005888964 RCV005888954 RCV005888958 RCV005888960 RCV005888965 RCV005888953 RCV005624722 RCV005888966 RCV005888957 RCV005888959 RCV005888955 RCV005888956 RCV006255135
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	6 SubmittersRCV000049621 RCV001192781 RCV001646987
NM_006612.6(KIF1C):c.2191C>T (p.Arg731Ter)	SNV Germline	Chr17:5022272	Pathogenic	Spastic ataxia 2 KIF1C-related disorder Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA150723	rs_587777197	4 SubmittersRCV000087323 RCV004752746 RCV006277706
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	9 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	10 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 Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome Spastic ataxia 10, autosomal recessive	Criteria Provided Multiple Submitters No Conflicts	CA199144	rs_143441644	14 SubmittersRCV000169636 RCV000256139 RCV001640262 RCV002515203 RCV003390884 RCV005003520
NM_001032221.6(STXBP1):c.874C>T (p.Arg292Cys)	SNV Germline/somatic	Chr9:127668159	Pathogenic/Likely pathogenic	Condition: not provided not specified Developmental and epileptic encephalopathy, 4 Early onset epileptic encephalopathy Infantile epilepsy syndrome Inborn genetic diseases Spastic ataxia West syndrome Early-infantile DEE	Criteria Provided Multiple Submitters No Conflicts	CA302345	rs_786205598	15 SubmittersRCV000171427 RCV000502114 RCV000515202 RCV000509312 RCV001265420 RCV001266353 RCV001640264 RCV003488419 RCV006461740
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	15 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	17 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	5 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 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA239316	rs_772742353	7 SubmittersRCV000658671 RCV001276936 RCV001852116 RCV005268560
NM_014363.6(SACS):c.8873A>G (p.Lys2958Arg)	SNV Germline	Chr13:23335003	Conflicting classifications of pathogenicity	not specified Condition: not provided Spastic paraplegia Charlevoix-Saguenay spastic ataxia Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA200741	rs_11839380	11 SubmittersRCV000173862 RCV000224353 RCV001084232 RCV001274927 RCV001847804
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 not specified	Criteria Provided Conflicting Classifications	CA239318	rs_150981983	6 SubmittersRCV000173863 RCV001080295 RCV001277261 RCV004998368
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 not specified	Criteria Provided Conflicting Classifications	CA250364	rs_148934699	10 SubmittersRCV000191099 RCV000415815 RCV001847848 RCV003917729 RCV006439756
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 Hereditary spastic paraplegia 4 Condition: not provided Spastic paraplegia Spastic ataxia Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA207191	rs_144594804	11 SubmittersRCV000193599 RCV000509114 RCV000658865 RCV001391562 RCV001640291 RCV001847874
NM_014363.6(SACS):c.10982C>T (p.Ala3661Val)	SNV Germline	Chr13:23332894	Conflicting classifications of pathogenicity	not specified Charlevoix-Saguenay spastic ataxia Condition: not provided Spastic paraplegia Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA207002	rs_36061856	11 SubmittersRCV000193480 RCV000278445 RCV000230933 RCV001079338 RCV001847870
NM_014363.6(SACS):c.10906C>T (p.Arg3636Ter)	SNV Germline	Chr13:23332970	Pathogenic	Charlevoix-Saguenay spastic ataxia Spastic paraplegia Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA276970	rs_780247476	9 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	19 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_138395.4(MARS2):c.61C>G (p.Leu21Val)	SNV Germline	Chr2:197705466	Conflicting classifications of pathogenicity	Condition: not provided Combined oxidative phosphorylation defect type 25 Spastic ataxia 3	Criteria Provided Conflicting Classifications	CA323908	rs_140705634	3 SubmittersRCV002023299 RCV005397272
NM_006005.3(WFS1):c.1371G>T (p.Arg457Ser)	SNV Germline	Chr4:6301166	Conflicting classifications of pathogenicity	Condition: not provided not specified Wolfram syndrome 1 Wolfram-like syndrome Cataract 41 Autosomal dominant nonsyndromic hearing loss 6 Type 2 diabetes mellitus 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	14 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	22 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 AFG3L2-related disorder	Criteria Provided Conflicting Classifications	CA321640	rs_117182113	10 SubmittersRCV000197194 RCV000369996 RCV000488282 RCV001262989 RCV004755808
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 Inborn genetic diseases Spinocerebellar ataxia type 28 Spastic ataxia 5 Optic atrophy 12	Criteria Provided Conflicting Classifications	CA319947	rs_139469785	10 SubmittersRCV000195592 RCV001122821 RCV001640293 RCV002517193 RCV003224221
NM_014363.6(SACS):c.11624G>A (p.Arg3875His)	SNV Germline	Chr13:23332252	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia Hereditary spastic paraplegia Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA351289	rs_863224916	5 SubmittersRCV001843500 RCV001848018 RCV002305471 RCV005238774
NM_014363.6(SACS):c.4118C>T (p.Ala1373Val)	SNV Germline	Chr13:23339758	Conflicting classifications of pathogenicity	Condition: not provided not specified Spastic paraplegia Charlevoix-Saguenay spastic ataxia Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA6911430	rs_61548169	7 SubmittersRCV000224523 RCV000290021 RCV001084237 RCV001112284 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	10 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 Spastic ataxia 1 Myasthenic syndrome, congenital, 25, presynaptic	Criteria Provided Multiple Submitters No Conflicts	CA10583055	rs_878854975	5 SubmittersRCV000128446 RCV000233592 RCV000255544 RCV005008203
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	8 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	8 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	8 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	10 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 Condition: not provided	Criteria Provided Conflicting Classifications	CA6910674	rs_377657177	6 SubmittersRCV000232996 RCV000295984 RCV002518350 RCV004725115
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	13 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 not specified	Criteria Provided Conflicting Classifications	CA6911032	rs_146722795	13 SubmittersRCV000260358 RCV000516875 RCV001081244 RCV001847976 RCV003929986 RCV006439834
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 not specified	Criteria Provided Conflicting Classifications	CA6911186	rs_370902090	5 SubmittersRCV000225857 RCV000676365 RCV001578942 RCV004999157
NM_014363.6(SACS):c.3391C>T (p.Leu1131Phe)	SNV Germline	Chr13:23340485	Conflicting classifications of pathogenicity	Spastic paraplegia Charlevoix-Saguenay spastic ataxia not specified	Criteria Provided Conflicting Classifications	CA6911531	rs_139805032	4 SubmittersRCV000232090 RCV000988965 RCV004586646
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	11 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 Intellectual disability	Criteria Provided Conflicting Classifications	CA6910891	rs_111920492	16 SubmittersRCV000243536 RCV000710207 RCV001082626 RCV001112102 RCV001848029 RCV003891946 RCV005625487
NM_014363.6(SACS):c.1839G>A (p.Gln613=)	SNV Germline	Chr13:23354773	Conflicting classifications of pathogenicity	not specified Charlevoix-Saguenay spastic ataxia Condition: not provided Spastic paraplegia Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA6911843	rs_35840595	9 SubmittersRCV000247615 RCV000361137 RCV000676370 RCV001084224 RCV001848027
NM_014363.6(SACS):c.909A>G (p.Ala303=)	SNV Germline	Chr13:23355703	Conflicting classifications of pathogenicity	not specified Charlevoix-Saguenay spastic ataxia Spastic paraplegia Condition: not provided	Criteria Provided Conflicting Classifications	CA6912006	rs_41315020	10 SubmittersRCV000249605 RCV000344542 RCV000465285 RCV000676375
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 Spastic paraplegia Hereditary spastic paraplegia	Criteria Provided Multiple Submitters No Conflicts	CA6911751	rs_752059006	15 SubmittersRCV000393719 RCV000454220 RCV000984212 RCV001859535 RCV001848046
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	10 SubmittersRCV000297710 RCV000411666 RCV001223182
NM_014363.6(SACS):c.9305T>A (p.Leu3102Ter)	SNV Germline	Chr13:23334571	Pathogenic	Condition: not provided Charlevoix-Saguenay spastic ataxia Spastic paraplegia Ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and intellectual disability	Criteria Provided Multiple Submitters No Conflicts	CA10603290	rs_886041949	8 SubmittersRCV000377502 RCV000762910 RCV001379554 RCV001544509
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	6 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	9 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 Spastic paraplegia Charlevoix-Saguenay spastic ataxia Hereditary spastic paraplegia not specified	Criteria Provided Conflicting Classifications	CA6910829	rs_34928783	9 SubmittersRCV000512830 RCV001085541 RCV001111636 RCV001848058 RCV004999227
NM_182961.4(SYNE1):c.25342G>A (p.Asp8448Asn)	SNV Germline	Chr6:152140066	Conflicting classifications of pathogenicity	Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal recessive ataxia, Beauce type Condition: not provided Emery-Dreifuss muscular dystrophy 4, autosomal dominant Spastic ataxia Autosomal recessive ataxia, Beauce type	Criteria Provided Conflicting Classifications	CA4052865	rs_139679692	8 SubmittersRCV000524861 RCV000713650 RCV001335277 RCV001642887 RCV003992260
NM_014363.6(SACS):c.10274A>G (p.Lys3425Arg)	SNV Germline	Chr13:23333602	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia not specified Spastic paraplegia SACS-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA6910476	rs_147317123	8 SubmittersRCV000327882 RCV000329092 RCV001082514 RCV003967757 RCV006439913
NM_014363.6(SACS):c.6240T>C (p.Val2080=)	SNV Germline	Chr13:23337636	Conflicting classifications of pathogenicity	Condition: not provided Charlevoix-Saguenay spastic ataxia not specified Spastic paraplegia	Criteria Provided Conflicting Classifications	CA6911113	rs_550680855	6 SubmittersRCV000676363 RCV001111737 RCV001706417 RCV001086386
NM_014363.6(SACS):c.1917A>G (p.Ala639=)	SNV Germline	Chr13:23354695	Conflicting classifications of pathogenicity	Spastic paraplegia not specified Charlevoix-Saguenay spastic ataxia Condition: not provided	Criteria Provided Conflicting Classifications	CA6911818	rs_138457742	4 SubmittersRCV001078709 RCV001283505 RCV001782774 RCV000710204
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 Charlevoix-Saguenay spastic ataxia not specified Spastic paraplegia	Criteria Provided Conflicting Classifications	CA6910551	rs_147506904	6 SubmittersRCV000281392 RCV001113530 RCV001288380 RCV001089187
NM_014363.6(SACS):c.11703T>C (p.Asn3901=)	SNV Germline	Chr13:23332173	Conflicting classifications of pathogenicity	Condition: not provided Charlevoix-Saguenay spastic ataxia Spastic paraplegia Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA6910237	rs_146154135	6 SubmittersRCV000313782 RCV001782776 RCV001089271 RCV001848062
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	9 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 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6911409	rs_527513599	4 SubmittersRCV000333351 RCV001089050 RCV001782779 RCV005268585
NM_014363.6(SACS):c.10896A>G (p.Ile3632Met)	SNV Germline	Chr13:23332980	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia Spastic paraplegia not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA6910375	rs_35256065	9 SubmittersRCV000392204 RCV000633069 RCV000518679 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	9 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 Spastic paraplegia Inborn genetic diseases Condition: not provided not specified Intellectual disability	Criteria Provided Conflicting Classifications	CA6911051	rs_556248979	8 SubmittersRCV000282675 RCV000691162 RCV002520866 RCV004791402 RCV005238881 RCV005625541
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 Condition: not provided	Criteria Provided Conflicting Classifications	CA6911535	rs_143287019	6 SubmittersRCV000374188 RCV000860788 RCV001660627 RCV006441720
NM_014363.6(SACS):c.3042A>G (p.Leu1014=)	SNV Germline	Chr13:23340834	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia Spastic paraplegia not specified	Criteria Provided Conflicting Classifications	CA6911574	rs_141982796	4 SubmittersRCV000399926 RCV001416952 RCV006436735
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 Condition: not provided	Criteria Provided Conflicting Classifications	CA6911935	rs_138413501	6 SubmittersRCV000372498 RCV001060561 RCV004791403
NM_014363.6(SACS):c.1081A>G (p.Lys361Glu)	SNV Germline	Chr13:23355531	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia Spastic paraplegia not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA6911975	rs_377027736	5 SubmittersRCV000293298 RCV001500911 RCV004999294 RCV006277785
NM_014363.6(SACS):c.944A>G (p.Asp315Gly)	SNV Germline	Chr13:23355668	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia Spastic paraplegia Condition: not provided	Criteria Provided Conflicting Classifications	CA6912001	rs_771115225	4 SubmittersRCV000289676 RCV002520873 RCV006436737
NM_014363.6(SACS):c.11792A>G (p.Lys3931Arg)	SNV Germline	Chr13:23332084	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia Spastic paraplegia Condition: not provided	Criteria Provided Conflicting Classifications	CA6910218	rs_764554878	4 SubmittersRCV000385354 RCV003750783 RCV006277784
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	7 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 Condition: not provided	Criteria Provided Conflicting Classifications	CA6910961	rs_142869943	7 SubmittersRCV000332938 RCV000863318 RCV001287913 RCV003930329 RCV006441718
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	7 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 Spastic paraplegia not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA6911189	rs_145371235	7 SubmittersRCV000392069 RCV001081266 RCV004999293 RCV006263854
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 not specified	Criteria Provided Conflicting Classifications	CA6911431	rs_61326562	6 SubmittersRCV000323040 RCV000884011 RCV001848103 RCV006441719
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 SACS-related disorder	Criteria Provided Conflicting Classifications	CA6911561	rs_3751369	7 SubmittersRCV000279611 RCV000712974 RCV001081930 RCV001848104 RCV004748723
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 not specified	Criteria Provided Conflicting Classifications	CA6911682	rs_151198216	5 SubmittersRCV000364679 RCV000867241 RCV006436736
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 not specified	Criteria Provided Conflicting Classifications	CA6910143	rs_150959878	7 SubmittersRCV000268383 RCV000861751 RCV001848096 RCV003992276 RCV005434806
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 Inborn genetic diseases Spastic paraplegia	Criteria Provided Conflicting Classifications	CA10643107	rs_886050075	3 SubmittersRCV000350663 RCV004021564 RCV002520863
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	11 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 not specified	Criteria Provided Conflicting Classifications	CA6910879	rs_186301471	6 SubmittersRCV000310623 RCV000865836 RCV001848098 RCV006436734
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 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6911463	rs_757939935	6 SubmittersRCV000379945 RCV000501904 RCV002520869 RCV004772893 RCV005732086
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	7 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 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10643120	rs_886050090	6 SubmittersRCV000260394 RCV000712975 RCV002520874 RCV004965399
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 Condition: not provided	Criteria Provided Conflicting Classifications	CA6910428	rs_199881455	4 SubmittersRCV000304456 RCV001504069 RCV004791401
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	12 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 SACS-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6911820	rs_200333323	7 SubmittersRCV000306464 RCV001288709 RCV001400059 RCV001848105 RCV004748724 RCV004955414
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 not specified	Criteria Provided Conflicting Classifications	CA7517435	rs_200125366	7 SubmittersRCV000400925 RCV001357218 RCV001642984 RCV002522790 RCV006441767
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	6 SubmittersRCV000410263 RCV001865265
NM_014363.6(SACS):c.11374C>T (p.Arg3792Ter)	SNV Germline	Chr13:23332502	Pathogenic/Likely pathogenic	Charlevoix-Saguenay spastic ataxia Condition: not provided Spastic paraplegia	Criteria Provided Multiple Submitters No Conflicts	CA16041601	rs_565203731	10 SubmittersRCV000411243 RCV001310676 RCV003766121
NM_014363.6(SACS):c.11185C>T (p.Gln3729Ter)	SNV Germline	Chr13:23332691	Likely pathogenic	Charlevoix-Saguenay spastic ataxia	Criteria Provided Single Submitter	CA16041602	rs_1057516398	2 SubmittersRCV000409109
NM_014363.6(SACS):c.10864C>T (p.Gln3622Ter)	SNV Unknown	Chr13:23333012	Likely pathogenic	Charlevoix-Saguenay spastic ataxia	No Assertion Criteria Provided	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	Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Multiple Submitters No Conflicts	CA16041607	rs_755186798	3 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	8 SubmittersRCV000412241 RCV000992769 RCV001861393
NM_014363.6(SACS):c.8867T>A (p.Leu2956Ter)	SNV Unknown	Chr13:23335009	Likely pathogenic	Charlevoix-Saguenay spastic ataxia	No Assertion Criteria Provided	CA16041614	rs_1057516853	1 SubmittersRCV000411855
NM_014363.6(SACS):c.7861C>T (p.Gln2621Ter)	SNV Unknown	Chr13:23336015	Likely pathogenic	Charlevoix-Saguenay spastic ataxia	No Assertion Criteria Provided	CA16041617	rs_1057517014	1 SubmittersRCV000408978
NM_014363.6(SACS):c.7394C>A (p.Ser2465Ter)	SNV Unknown	Chr13:23336482	Likely pathogenic	Charlevoix-Saguenay spastic ataxia	No Assertion Criteria Provided	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	Pathogenic/Likely pathogenic	Charlevoix-Saguenay spastic ataxia Hereditary spastic paraplegia Spastic paraplegia	Criteria Provided Multiple Submitters No Conflicts	CA6911218	rs_761089024	7 SubmittersRCV000409299 RCV000515938 RCV001865273
NM_014363.6(SACS):c.5469C>A (p.Cys1823Ter)	SNV Unknown	Chr13:23338407	Likely pathogenic	Charlevoix-Saguenay spastic ataxia	No Assertion Criteria Provided	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	7 SubmittersRCV000412006 RCV001224413
NM_014363.6(SACS):c.4298G>A (p.Trp1433Ter)	SNV Germline	Chr13:23339578	Pathogenic	Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Single Submitter	CA16041638	rs_1057516930	2 SubmittersRCV000410424 RCV006462574
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 Germline	Chr13:23340919	Pathogenic/Likely pathogenic	Charlevoix-Saguenay spastic ataxia Condition: not provided Spastic paraplegia	Criteria Provided Multiple Submitters No Conflicts	CA6911585	rs_766457071	3 SubmittersRCV000409140 RCV005639114 RCV006462577
NM_014363.6(SACS):c.2330C>A (p.Ser777Ter)	SNV Unknown	Chr13:23341546	Likely pathogenic	Charlevoix-Saguenay spastic ataxia	No Assertion Criteria Provided	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	4 SubmittersRCV000412381 RCV002523873
NM_014363.6(SACS):c.2186-2A>G	SNV Germline	Chr13:23341692	Likely pathogenic	Charlevoix-Saguenay spastic ataxia	Criteria Provided Single Submitter	CA16041649	rs_1057516554	2 SubmittersRCV000410645
NM_014363.6(SACS):c.1A>G (p.Met1Val)	SNV Germline	Chr13:23411239	Likely pathogenic	Charlevoix-Saguenay spastic ataxia	Criteria Provided Single Submitter	CA6912209	rs_771943685	2 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 Autosomal recessive Parkinson disease 14 Infantile neuroaxonal dystrophy Neurodegeneration with brain iron accumulation 2B Acute myeloid leukemia	Criteria Provided Conflicting Classifications	CA10231350	rs_11570607	6 SubmittersRCV000416070 RCV001144722 RCV001643138 RCV001865303 RCV005398506 RCV005900684
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 Spastic ataxia 10, autosomal recessive Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	Criteria Provided Multiple Submitters No Conflicts	CA5260544	rs_747779231	6 SubmittersRCV000445097 RCV000845241 RCV003409591 RCV003482255 RCV006605267
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	Pathogenic/Likely pathogenic	Spastic paraplegia Condition: not provided Charlevoix-Saguenay spastic ataxia Hereditary spastic paraplegia	Criteria Provided Multiple Submitters No Conflicts	CA6910624	rs_371019314	9 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 not specified Intellectual disability	Criteria Provided Conflicting Classifications	CA6910801	rs_186436335	8 SubmittersRCV000473308 RCV000594324 RCV000765121 RCV001848817 RCV004999477 RCV005625615
NM_014363.6(SACS):c.346-3T>A	SNV Germline	Chr13:23365280	Conflicting classifications of pathogenicity	Spastic paraplegia Charlevoix-Saguenay spastic ataxia Condition: not provided	Criteria Provided Conflicting Classifications	CA6912110	rs_186506382	3 SubmittersRCV000457852 RCV001828484 RCV006443452
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	7 SubmittersRCV000458276 RCV000624366 RCV001785620
NM_014363.6(SACS):c.1033C>T (p.Arg345Trp)	SNV Germline	Chr13:23355579	Conflicting classifications of pathogenicity	Spastic paraplegia Condition: not provided Charlevoix-Saguenay spastic ataxia Inborn genetic diseases not specified	Criteria Provided Conflicting Classifications	CA6911986	rs_776156836	8 SubmittersRCV000466492 RCV000519338 RCV001271972 RCV004022883 RCV005056027
NM_014363.6(SACS):c.10954C>A (p.Pro3652Thr)	SNV Germline	Chr13:23332922	Conflicting classifications of pathogenicity	Spastic paraplegia Charlevoix-Saguenay spastic ataxia Condition: not provided	Criteria Provided Conflicting Classifications	CA6910364	rs_201505036	5 SubmittersRCV000466695 RCV001833594 RCV001288373
NM_018109.4(MTPAP):c.1072C>T (p.Arg358Trp)	SNV Germline	Chr10:30322538	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Spastic ataxia 4	Criteria Provided Conflicting Classifications	CA16618956	rs_918158750	3 SubmittersRCV000484288 RCV000623240 RCV006260057
NM_006612.6(KIF1C):c.646C>T (p.Arg216Cys)	SNV Germline	Chr17:5002768	Likely pathogenic	Condition: not provided Spastic ataxia 2	Criteria Provided Multiple Submitters No Conflicts	CA16620467	rs_1064796693	3 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 Clear cell carcinoma of kidney Melanoma Lung cancer Sarcoma Gastric cancer Ovarian serous cystadenocarcinoma Thymoma Malignant tumor of esophagus Cervical cancer	Criteria Provided Conflicting Classifications	CA8318865	rs_142056835	6 SubmittersRCV000487792 RCV000497507 RCV000516075 RCV001079974 RCV005899678 RCV005899683 RCV005899684 RCV005899679 RCV005899680 RCV005899681 RCV005899682 RCV005899676 RCV005899677
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 Ovarian serous cystadenocarcinoma Colorectal cancer Acute myeloid leukemia	Criteria Provided Conflicting Classifications	CA8319262	rs_118037269	8 SubmittersRCV000516023 RCV000645370 RCV001085955 RCV003915341 RCV005899675 RCV005899674 RCV005899673
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	5 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	6 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 Spastic paraplegia Charlevoix-Saguenay spastic ataxia Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA6911327	rs_143961484	6 SubmittersRCV000503684 RCV000551798 RCV000765124 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 not specified	Criteria Provided Conflicting Classifications	CA8318879	rs_192489748	6 SubmittersRCV000514056 RCV001080394 RCV001848880 RCV006438161
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	4 SubmittersRCV000517352 RCV001829472 RCV002525070
NM_014363.6(SACS):c.10118C>T (p.Thr3373Ile)	SNV Germline	Chr13:23333758	Conflicting classifications of pathogenicity	not specified Charlevoix-Saguenay spastic ataxia Condition: not provided Spastic paraplegia Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6910502	rs_200591364	5 SubmittersRCV000517432 RCV001834668 RCV000676353 RCV002527516 RCV005722143
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 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6910654	rs_758654165	4 SubmittersRCV000516989 RCV001829476 RCV002525076 RCV004955574
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 Condition: not provided	Criteria Provided Conflicting Classifications	CA6910788	rs_763504656	7 SubmittersRCV000516833 RCV000765120 RCV002525074 RCV004691826
NM_014363.6(SACS):c.6336A>C (p.Arg2112Ser)	SNV Germline	Chr13:23337540	Conflicting classifications of pathogenicity	Condition: not provided Spastic paraplegia Charlevoix-Saguenay spastic ataxia Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA6911101	rs_80132141	7 SubmittersRCV000517696 RCV001080771 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	4 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 Spastic paraplegia Charlevoix-Saguenay spastic ataxia Hereditary spastic paraplegia not specified	Criteria Provided Conflicting Classifications	CA6911147	rs_35865691	6 SubmittersRCV000516670 RCV001082654 RCV001112183 RCV001848894 RCV005000085
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 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6911148	rs_769751841	6 SubmittersRCV000518243 RCV000803901 RCV001783017 RCV003960224 RCV005722144
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	5 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	10 SubmittersRCV000516574 RCV001081341 RCV001109615 RCV001848892 RCV001644611 RCV003905307
NM_014363.6(SACS):c.2602A>G (p.Ile868Val)	SNV Germline	Chr13:23341274	Conflicting classifications of pathogenicity	Condition: not provided Spastic paraplegia Charlevoix-Saguenay spastic ataxia Hereditary spastic paraplegia Inborn genetic diseases not specified	Criteria Provided Conflicting Classifications	CA6911659	rs_142284018	8 SubmittersRCV000518481 RCV000820462 RCV001111916 RCV001848891 RCV002525072 RCV006458454
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 Hereditary spastic paraplegia Inborn genetic diseases SACS-related disorder Familial cancer of breast	Criteria Provided Conflicting Classifications	CA6911833	rs_149638449	9 SubmittersRCV000518207 RCV001083870 RCV001113726 RCV001848890 RCV002525071 RCV004748801 RCV005901156
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	Condition: not provided Spastic paraplegia Charlevoix-Saguenay spastic ataxia	Criteria Provided Conflicting Classifications	CA6911994	rs_144303334	6 SubmittersRCV000518798 RCV001083131 RCV001112021
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	10 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/Likely pathogenic	Condition: not provided Charlevoix-Saguenay spastic ataxia Spastic paraplegia SACS-related disorder Hereditary ataxia	Criteria Provided Multiple Submitters No Conflicts	CA387531824	rs_867249938	8 SubmittersRCV000521561 RCV000984213 RCV001064306 RCV004748805 RCV005625669
NM_014363.6(SACS):c.1607C>T (p.Pro536Leu)	SNV Germline	Chr13:23355005	Pathogenic/Likely pathogenic	Condition: not provided Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Multiple Submitters No Conflicts	CA387547599	rs_1440541889	7 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	7 SubmittersRCV000522663 RCV000674847 RCV001224412 RCV003323587
NM_014363.6(SACS):c.110G>A (p.Arg37His)	SNV Germline	Chr13:23375180	Conflicting classifications of pathogenicity	Condition: not provided Charlevoix-Saguenay spastic ataxia Spastic paraplegia not specified Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA387554542	rs_866539724	7 SubmittersRCV000522808 RCV001834696 RCV002525178 RCV005056119 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	4 SubmittersRCV000543798 RCV003482287
NM_014363.6(SACS):c.12813T>G (p.Pro4271=)	SNV Germline	Chr13:23331063	Conflicting classifications of pathogenicity	not specified Spastic paraplegia Charlevoix-Saguenay spastic ataxia Condition: not provided Hereditary spastic paraplegia SACS-related disorder	Criteria Provided Conflicting Classifications	CA6910078	rs_146376949	12 SubmittersRCV000712961 RCV001081835 RCV001114727 RCV001529134 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	9 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 Spastic paraplegia Charlevoix-Saguenay spastic ataxia	Criteria Provided Conflicting Classifications	CA6911721	rs_143677534	6 SubmittersRCV000555876 RCV001088901 RCV001271968
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 Hereditary spastic paraplegia Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA6910625	rs_762665640	5 SubmittersRCV000546063 RCV001274923 RCV001848925 RCV003403262 RCV005434997
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 Condition: not provided	Criteria Provided Conflicting Classifications	CA6911670	rs_756890722	5 SubmittersRCV000545527 RCV001834757 RCV001848921 RCV005000138
NM_014363.6(SACS):c.1886C>T (p.Ala629Val)	SNV Germline	Chr13:23354726	Conflicting classifications of pathogenicity	Spastic paraplegia Charlevoix-Saguenay spastic ataxia Condition: not provided	Criteria Provided Conflicting Classifications	CA6911832	rs_760505057	3 SubmittersRCV000530995 RCV001829566 RCV006277874
NM_014363.6(SACS):c.6640C>T (p.Arg2214Cys)	SNV Germline	Chr13:23337236	Conflicting classifications of pathogenicity	Spastic paraplegia Charlevoix-Saguenay spastic ataxia Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6911049	rs_138379074	6 SubmittersRCV000538701 RCV000765122 RCV003482278 RCV002528313
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_014363.6(SACS):c.1483T>A (p.Phe495Ile)	SNV Germline	Chr13:23355129	Conflicting classifications of pathogenicity	Spastic paraplegia Charlevoix-Saguenay spastic ataxia Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6911908	rs_748972179	3 SubmittersRCV000552873 RCV001834756 RCV005480387
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 Melanoma Uterine carcinosarcoma Lung cancer Ovarian serous cystadenocarcinoma	Criteria Provided Conflicting Classifications	CA8318875	rs_79290524	5 SubmittersRCV000553957 RCV001848958 RCV002292564 RCV005896839 RCV005896838 RCV005896840 RCV005896837
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 Condition: not provided	Criteria Provided Conflicting Classifications	CA8318586	rs_185479618	3 SubmittersRCV000540072 RCV004791556
NM_016035.5(COQ4):c.469C>A (p.Gln157Lys)	SNV Germline	Chr9:128332219	Conflicting classifications of pathogenicity	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome Inborn genetic diseases Condition: not provided Hereditary spastic paraplegia Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome Spastic ataxia 10, autosomal recessive	Criteria Provided Conflicting Classifications	CA200341697	rs_1045118320	7 SubmittersRCV000578354 RCV000623610 RCV001268474 RCV005625688 RCV005049607
NM_014363.6(SACS):c.13615C>T (p.Pro4539Ser)	SNV Germline	Chr13:23330261	Conflicting classifications of pathogenicity	Condition: not provided Charlevoix-Saguenay spastic ataxia not specified Charcot-Marie-Tooth disease	Criteria Provided Conflicting Classifications	CA387504864	rs_1555249106	4 SubmittersRCV000593641 RCV003465330 RCV004782459 RCV005625695
NM_014363.6(SACS):c.10668G>A (p.Leu3556=)	SNV Germline	Chr13:23333208	Conflicting classifications of pathogenicity	Condition: not provided Spastic paraplegia Charlevoix-Saguenay spastic ataxia not specified	Criteria Provided Conflicting Classifications	CA6910414	rs_139517699	7 SubmittersRCV000676351 RCV001086031 RCV001783099 RCV005000371
NM_014363.6(SACS):c.1255A>G (p.Ile419Val)	SNV Germline	Chr13:23355357	Conflicting classifications of pathogenicity	Condition: not provided Spastic paraplegia Inborn genetic diseases Charlevoix-Saguenay spastic ataxia	Criteria Provided Conflicting Classifications	CA6911942	rs_767818359	5 SubmittersRCV000596432 RCV002532605 RCV002532604 RCV005392154
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	9 SubmittersRCV000612398 RCV000824757 RCV001380372 RCV001591363
NM_014363.6(SACS):c.9723G>C (p.Glu3241Asp)	SNV Germline	Chr13:23334153	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia Spastic paraplegia Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6910575	rs_772595501	3 SubmittersRCV000625697 RCV002531924 RCV004025286
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	5 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 Charlevoix-Saguenay spastic ataxia Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA387554637	rs_1365453773	4 SubmittersRCV000633012 RCV001835012 RCV002529815
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	11 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	11 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 not specified	Criteria Provided Conflicting Classifications	CA6911347	rs_201558584	8 SubmittersRCV000633040 RCV001111812 RCV001508703 RCV001849005 RCV005240357
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 Condition: not provided	Criteria Provided Conflicting Classifications	CA8318508	rs_142773987	3 SubmittersRCV000645369 RCV001849025 RCV005243320
NM_006005.3(WFS1):c.1181A>T (p.Glu394Val)	SNV Germline	Chr4:6300976	Conflicting classifications of pathogenicity	Condition: not provided Spastic ataxia WFS1-related disorder Autosomal dominant nonsyndromic hearing loss 6 Type 2 diabetes mellitus Wolfram-like syndrome Wolfram syndrome 1 Cataract 41	Criteria Provided Conflicting Classifications	CA2839247	rs_146563951	6 SubmittersRCV000657864 RCV001644744 RCV004737937 RCV005027770
NM_006796.3(AFG3L2):c.1385C>T (p.Ala462Val)	SNV Germline	Chr18:12351347	Conflicting classifications of pathogenicity	Condition: not provided Optic atrophy Optic atrophy 12 Spastic ataxia 5 Spinocerebellar ataxia type 28	Criteria Provided Conflicting Classifications	CA296701043	rs_912546325	5 SubmittersRCV000658802 RCV001249473 RCV001253811 RCV001253812 RCV005409707
NM_014363.6(SACS):c.13276C>T (p.Gln4426Ter)	SNV Germline	Chr13:23330600	Pathogenic	Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Single Submitter	CA387505611	rs_1555249276	2 SubmittersRCV000673080 RCV003750816
NM_014363.6(SACS):c.12622C>T (p.Gln4208Ter)	SNV Germline	Chr13:23331254	Pathogenic	Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Multiple Submitters No Conflicts	CA387507336	rs_1555249555	3 SubmittersRCV000668994 RCV001232544
NM_014363.6(SACS):c.8727G>A (p.Trp2909Ter)	SNV Germline	Chr13:23335149	Pathogenic	Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Single Submitter	CA387515997	rs_1555250949	2 SubmittersRCV000667371 RCV001855479
NM_014363.6(SACS):c.7110C>A (p.Tyr2370Ter)	SNV Unknown	Chr13:23336766	Likely pathogenic	Charlevoix-Saguenay spastic ataxia	No Assertion Criteria Provided	CA387520023	rs_1555251553	1 SubmittersRCV000674868
NM_014363.6(SACS):c.6409C>T (p.Gln2137Ter)	SNV Unknown	Chr13:23337467	Likely pathogenic	Charlevoix-Saguenay spastic ataxia	No Assertion Criteria Provided	CA387521968	rs_201690040	1 SubmittersRCV000666608
NM_014363.6(SACS):c.6130C>T (p.Gln2044Ter)	SNV Germline	Chr13:23337746	Likely pathogenic	Charlevoix-Saguenay spastic ataxia	Criteria Provided Single Submitter	CA387523835	rs_1408290451	2 SubmittersRCV000673160
NM_014363.6(SACS):c.3674T>G (p.Leu1225Ter)	SNV Unknown	Chr13:23340202	Likely pathogenic	Charlevoix-Saguenay spastic ataxia	No Assertion Criteria Provided	CA387534039	rs_959856535	1 SubmittersRCV000668407
NM_014363.6(SACS):c.3457A>T (p.Lys1153Ter)	SNV Unknown	Chr13:23340419	Likely pathogenic	Charlevoix-Saguenay spastic ataxia	No Assertion Criteria Provided	CA387535140	rs_1555252634	1 SubmittersRCV000670862
NM_014363.6(SACS):c.961C>T (p.Arg321Ter)	SNV Germline	Chr13:23355651	Pathogenic/Likely pathogenic	Charlevoix-Saguenay spastic ataxia Condition: not provided Spastic paraplegia	Criteria Provided Multiple Submitters No Conflicts	CA387550686	rs_1175545518	11 SubmittersRCV000671337 RCV001090243 RCV001868253
NM_014363.6(SACS):c.2T>C (p.Met1Thr)	SNV Unknown	Chr13:23411238	Likely pathogenic	Charlevoix-Saguenay spastic ataxia	No Assertion Criteria Provided	CA387507237	rs_1417057515	1 SubmittersRCV000666635
NM_014363.6(SACS):c.12323C>G (p.Ser4108Ter)	SNV Unknown	Chr13:23331553	Likely pathogenic	Charlevoix-Saguenay spastic ataxia	No Assertion Criteria Provided	CA387507998	rs_1555249633	1 SubmittersRCV000671025
NM_014363.6(SACS):c.11935G>T (p.Glu3979Ter)	SNV Unknown	Chr13:23331941	Likely pathogenic	Charlevoix-Saguenay spastic ataxia	No Assertion Criteria Provided	CA387508867	rs_1555249745	1 SubmittersRCV000674023
NM_014363.6(SACS):c.11179C>T (p.Gln3727Ter)	SNV Unknown	Chr13:23332697	Likely pathogenic	Charlevoix-Saguenay spastic ataxia	No Assertion Criteria Provided	CA387510563	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	CA6910821	rs_750181262	7 SubmittersRCV000668456 RCV001576889 RCV001868222
NM_014363.6(SACS):c.3901C>T (p.Gln1301Ter)	SNV Unknown	Chr13:23339975	Likely pathogenic	Charlevoix-Saguenay spastic ataxia	No Assertion Criteria Provided	CA387533310	rs_1555252531	1 SubmittersRCV000667332
NM_014363.6(SACS):c.2863A>T (p.Lys955Ter)	SNV Unknown	Chr13:23341013	Likely pathogenic	Charlevoix-Saguenay spastic ataxia	No Assertion Criteria Provided	CA387537455	rs_1555252786	1 SubmittersRCV000667512
NM_014363.6(SACS):c.13645A>G (p.Asn4549Asp)	SNV Germline	Chr13:23330231	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia	Criteria Provided Conflicting Classifications	CA387504800	rs_1178912631	3 SubmittersRCV000669953
NM_014363.6(SACS):c.2533C>T (p.Gln845Ter)	SNV Unknown	Chr13:23341343	Likely pathogenic	Charlevoix-Saguenay spastic ataxia	Criteria Provided Single Submitter	CA387538820	rs_1555252876	2 SubmittersRCV000664830
NM_014363.6(SACS):c.13405G>C (p.Ala4469Pro)	SNV Unknown	Chr13:23330471	Likely pathogenic	Charlevoix-Saguenay spastic ataxia	No Assertion Criteria Provided	CA387505332	rs_745961541	1 SubmittersRCV000672222
NM_014363.6(SACS):c.2434C>T (p.Gln812Ter)	SNV Unknown	Chr13:23341442	Likely pathogenic	Charlevoix-Saguenay spastic ataxia	No Assertion Criteria Provided	CA387539040	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	CA6912020	rs_745907077	7 SubmittersRCV000670029 RCV001855535
NM_014363.6(SACS):c.13284C>A (p.Tyr4428Ter)	SNV Unknown	Chr13:23330592	Likely pathogenic	Charlevoix-Saguenay spastic ataxia	No Assertion Criteria Provided	CA387505594	rs_753277514	1 SubmittersRCV000670810
NM_014363.6(SACS):c.605-1G>A	SNV Unknown	Chr13:23356008	Likely pathogenic	Charlevoix-Saguenay spastic ataxia	No Assertion Criteria Provided	CA387551853	rs_1555254489	1 SubmittersRCV000668193
NM_014363.6(SACS):c.11509C>T (p.Gln3837Ter)	SNV Unknown	Chr13:23332367	Likely pathogenic	Charlevoix-Saguenay spastic ataxia	No Assertion Criteria Provided	CA387509827	rs_1555249881	1 SubmittersRCV000669284
NM_014363.6(SACS):c.8029C>T (p.Gln2677Ter)	SNV Unknown	Chr13:23335847	Likely pathogenic	Charlevoix-Saguenay spastic ataxia	No Assertion Criteria Provided	CA387517541	rs_1555251241	1 SubmittersRCV000667379
NM_014363.6(SACS):c.7527T>G (p.Tyr2509Ter)	SNV Unknown	Chr13:23336349	Likely pathogenic	Charlevoix-Saguenay spastic ataxia	No Assertion Criteria Provided	CA387518840	rs_140034972	1 SubmittersRCV000665439
NM_014363.6(SACS):c.6355C>T (p.Arg2119Ter)	SNV Germline	Chr13:23337521	Pathogenic	Charlevoix-Saguenay spastic ataxia Spastic paraplegia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA6911095	rs_766711286	9 SubmittersRCV000672257 RCV001387162 RCV004808839
NM_014363.6(SACS):c.6052A>T (p.Lys2018Ter)	SNV Unknown	Chr13:23337824	Likely pathogenic	Charlevoix-Saguenay spastic ataxia	No Assertion Criteria Provided	CA387524003	rs_1555251944	1 SubmittersRCV000673402
NM_014363.6(SACS):c.5414C>G (p.Ser1805Ter)	SNV Unknown	Chr13:23338462	Likely pathogenic	Charlevoix-Saguenay spastic ataxia	No Assertion Criteria Provided	CA387525719	rs_1555252113	1 SubmittersRCV000664891
NM_014363.6(SACS):c.5281C>T (p.Gln1761Ter)	SNV Unknown	Chr13:23338595	Likely pathogenic	Charlevoix-Saguenay spastic ataxia	No Assertion Criteria Provided	CA387526055	rs_1555252142	1 SubmittersRCV000671001
NM_014363.6(SACS):c.5075C>A (p.Ser1692Ter)	SNV Germline	Chr13:23338801	Pathogenic	Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Single Submitter	CA387526652	rs_1555252184	2 SubmittersRCV000667425 RCV003767955
NM_014363.6(SACS):c.5010T>G (p.Tyr1670Ter)	SNV Unknown	Chr13:23338866	Likely pathogenic	Charlevoix-Saguenay spastic ataxia	No Assertion Criteria Provided	CA387526905	rs_1459899547	1 SubmittersRCV000672847
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	CA387551862	rs_1555254734	3 SubmittersRCV000666450 RCV003750811
NM_014363.6(SACS):c.10087A>T (p.Lys3363Ter)	SNV Unknown	Chr13:23333789	Likely pathogenic	Charlevoix-Saguenay spastic ataxia	No Assertion Criteria Provided	CA387512997	rs_1555250359	1 SubmittersRCV000673894
NM_014363.6(SACS):c.8480C>A (p.Ser2827Ter)	SNV Unknown	Chr13:23335396	Likely pathogenic	Charlevoix-Saguenay spastic ataxia	No Assertion Criteria Provided	CA387516544	rs_1555251015	1 SubmittersRCV000667851
NM_014363.6(SACS):c.8377C>T (p.Gln2793Ter)	SNV Germline	Chr13:23335499	Pathogenic	Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Single Submitter	CA387516772	rs_1240368715	2 SubmittersRCV000674504 RCV002532164
NM_014363.6(SACS):c.6919G>T (p.Gly2307Ter)	SNV Unknown	Chr13:23336957	Likely pathogenic	Charlevoix-Saguenay spastic ataxia	No Assertion Criteria Provided	CA387520457	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	CA387524925	rs_1485209013	6 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	CA387535305	rs_144267558	3 SubmittersRCV000670813
NM_014363.6(SACS):c.2564T>G (p.Leu855Ter)	SNV Unknown	Chr13:23341312	Likely pathogenic	Charlevoix-Saguenay spastic ataxia	No Assertion Criteria Provided	CA387538753	rs_142037771	1 SubmittersRCV000669728
NM_014363.6(SACS):c.2287C>T (p.Gln763Ter)	SNV Unknown	Chr13:23341589	Likely pathogenic	Charlevoix-Saguenay spastic ataxia	No Assertion Criteria Provided	CA387539613	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 Spastic paraplegia Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA6911990	rs_767435985	4 SubmittersRCV000673666 RCV002060828 RCV001849042
NM_014363.6(SACS):c.832C>T (p.Gln278Ter)	SNV Germline	Chr13:23355780	Pathogenic	Charlevoix-Saguenay spastic ataxia	Criteria Provided Single Submitter	CA387551048	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	CA387534851	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 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6911823	rs_201752905	5 SubmittersRCV000676369 RCV001049324 RCV001113725 RCV004659160
NM_014363.6(SACS):c.262C>T (p.Arg88Ter)	SNV Germline	Chr13:23368485	Pathogenic	Charlevoix-Saguenay spastic ataxia Condition: not provided Charcot-Marie-Tooth disease X-linked dominant 1 Spastic paraplegia	Criteria Provided Multiple Submitters No Conflicts	CA387553373	rs_1555255676	5 SubmittersRCV000677658 RCV001816685 RCV002305528 RCV002544685
NM_015046.7(SETX):c.1468G>A (p.Val490Ile)	SNV Germline	Chr9:132330130	Conflicting classifications of pathogenicity	Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Condition: not provided Spastic ataxia Inborn genetic diseases Amyotrophic lateral sclerosis type 4 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	Criteria Provided Conflicting Classifications	CA5297771	rs_763545230	7 SubmittersRCV000700292 RCV000713198 RCV001644767 RCV002388306 RCV003233823 RCV003233822
NM_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	CA6910971	rs_752273313	3 SubmittersRCV000690739 RCV001275189 RCV002547157
NM_014363.6(SACS):c.2776A>G (p.Ile926Val)	SNV Germline	Chr13:23341100	Conflicting classifications of pathogenicity	Spastic paraplegia Charlevoix-Saguenay spastic ataxia Hereditary spastic paraplegia not specified	Criteria Provided Conflicting Classifications	CA6911627	rs_144362131	7 SubmittersRCV001257223 RCV001111915 RCV001849073 RCV004997239
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 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6910605	rs_200453385	4 SubmittersRCV000689777 RCV001829908 RCV001849054 RCV004958003
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	CA6910022	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	CA6910297	rs_145188410	5 SubmittersRCV000698539 RCV001111442
NM_014363.6(SACS):c.2294A>G (p.Tyr765Cys)	SNV Germline	Chr13:23341582	Conflicting classifications of pathogenicity	Spastic paraplegia Condition: not provided Charlevoix-Saguenay spastic ataxia not specified	Criteria Provided Conflicting Classifications	CA6911710	rs_141553858	5 SubmittersRCV000688531 RCV001756169 RCV001784312 RCV005418300
NM_006612.6(KIF1C):c.14C>T (p.Ser5Leu)	SNV Germline	Chr17:5000260	Conflicting classifications of pathogenicity	Spastic ataxia 2 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8318418	rs_747424547	2 SubmittersRCV000684908 RCV006367227
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	CA8318642	rs_141189136	3 SubmittersRCV000687046 RCV001252794 RCV003258918
NM_014363.6(SACS):c.5906A>G (p.His1969Arg)	SNV Germline	Chr13:23337970	Conflicting classifications of pathogenicity	Spastic paraplegia Charlevoix-Saguenay spastic ataxia Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6911173	rs_776693219	3 SubmittersRCV000693766 RCV001825352 RCV004958013
NM_014363.6(SACS):c.2492A>G (p.Glu831Gly)	SNV Germline	Chr13:23341384	Conflicting classifications of pathogenicity	Spastic paraplegia Charlevoix-Saguenay spastic ataxia Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA6911680	rs_375968367	4 SubmittersRCV000700961 RCV001271967 RCV002533606 RCV002473121
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	CA6911896	rs_190617851	8 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	CA2231480	rs_750473506	4 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	CA6910158	rs_373478772	3 SubmittersRCV000712960 RCV001274917 RCV002532942
NM_014363.6(SACS):c.12148T>C (p.Phe4050Leu)	SNV Germline	Chr13:23331728	Conflicting classifications of pathogenicity	Spastic paraplegia not specified Charlevoix-Saguenay spastic ataxia Condition: not provided SACS-related disorder	Criteria Provided Conflicting Classifications	CA6910176	rs_147013767	5 SubmittersRCV001049336 RCV001644778 RCV001274918 RCV003480803 RCV004748913
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 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6910288	rs_753844954	4 SubmittersRCV000712957 RCV001825423 RCV002532941 RCV005480467
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	CA6910331	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 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6910489	rs_375898103	5 SubmittersRCV000712954 RCV001273195 RCV001491310 RCV005480466
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	CA6910580	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	CA6910604	rs_137905181	7 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 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6910747	rs_760976439	5 SubmittersRCV000712992 RCV000800081 RCV001276935 RCV005722187
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	CA246657061	rs_1007936574	6 SubmittersRCV000712989 RCV001784353 RCV002534516
NM_014363.6(SACS):c.6993A>T (p.Glu2331Asp)	SNV Germline	Chr13:23336883	Conflicting classifications of pathogenicity	Condition: not provided Charlevoix-Saguenay spastic ataxia Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6910986	rs_759201960	3 SubmittersRCV000712987 RCV001825425 RCV005480468
NM_014363.6(SACS):c.6178G>C (p.Val2060Leu)	SNV Germline	Chr13:23337698	Conflicting classifications of pathogenicity	Condition: not provided Charlevoix-Saguenay spastic ataxia Spastic paraplegia Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6911121	rs_373226693	4 SubmittersRCV000712980 RCV001830584 RCV002534515 RCV002534514
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	CA6911201	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	CA6911578	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 not specified	Criteria Provided Conflicting Classifications	CA6911665	rs_41283958	12 SubmittersRCV000712969 RCV000765125 RCV001087176 RCV001849072 RCV005418322
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	CA6911808	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	CA6911841	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	CA482925356	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	CA404336905	rs_1568447650	4 SubmittersRCV000710963 RCV000855537
NM_014363.6(SACS):c.11101T>C (p.Trp3701Arg)	SNV Germline	Chr13:23332775	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia not specified Spastic paraplegia	Criteria Provided Conflicting Classifications	CA6910340	rs_773588375	3 SubmittersRCV000757941 RCV003317355 RCV006464145
NM_014363.6(SACS):c.4103G>T (p.Ser1368Ile)	SNV Unknown	Chr13:23339773	Pathogenic	Charlevoix-Saguenay spastic ataxia	Criteria Provided Single Submitter	CA387532457	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	CA6910344	rs_148925505	7 SubmittersRCV000761851 RCV001111443 RCV001241078 RCV001849092
NM_177400.3(NKX6-2):c.608G>A (p.Trp203Ter)	SNV Germline	Chr10:132785142	Pathogenic/Likely pathogenic	Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA378769253	rs_1565019928	4 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	CA378769311	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	CA378769371	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	CA378769540	rs_776560015	3 SubmittersRCV000770990
NM_016955.4(SEPSECS):c.1393C>T (p.Arg465Ter)	SNV Germline	Chr4:25124044	Conflicting classifications of pathogenicity	Spastic ataxia Condition: not provided Pontoneocerebellar hypoplasia Pontocerebellar hypoplasia type 2D	Criteria Provided Conflicting Classifications	CA2877152	rs_773969315	4 SubmittersRCV001644813 RCV002535655 RCV005407955 RCV005358038
NM_014363.6(SACS):c.9670C>T (p.Arg3224Ter)	SNV Germline	Chr13:23334206	Pathogenic	Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Multiple Submitters No Conflicts	CA6910584	rs_751568153	2 SubmittersRCV000781830 RCV003750821
NM_016035.5(COQ4):c.304C>T (p.Arg102Cys)	SNV Germline	Chr9:128325783	Conflicting classifications of pathogenicity	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome Spastic ataxia 10, autosomal recessive Condition: not provided	Criteria Provided Conflicting Classifications	CA5260510	rs_371984550	4 SubmittersRCV000784995 RCV003482303 RCV006278081
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	CA5260480	rs_779568890	3 SubmittersRCV000792805 RCV001644823
NM_001330260.2(SCN8A):c.1790G>A (p.Arg597His)	SNV Germline	Chr12:51721700	Conflicting classifications of pathogenicity	Spastic ataxia Early-infantile DEE	Criteria Provided Conflicting Classifications	CA6571332	rs_755358223	2 SubmittersRCV001644826 RCV006464295
NM_014363.6(SACS):c.10205A>G (p.Asp3402Gly)	SNV Germline	Chr13:23333671	Conflicting classifications of pathogenicity	Spastic paraplegia Charlevoix-Saguenay spastic ataxia Inborn genetic diseases not specified	Criteria Provided Conflicting Classifications	CA6910487	rs_543563990	5 SubmittersRCV000802657 RCV001274921 RCV006367351 RCV004997348
NM_014363.6(SACS):c.6857A>G (p.Lys2286Arg)	SNV Germline	Chr13:23337019	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia Condition: not provided Inborn genetic diseases Spastic paraplegia	Criteria Provided Conflicting Classifications	CA6911014	rs_754381972	4 SubmittersRCV001275190 RCV005865389 RCV005480483 RCV000791527
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	CA6911086	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 Charlevoix-Saguenay spastic ataxia Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6911096	rs_754033201	5 SubmittersRCV000805719 RCV001275192 RCV001287906 RCV004958118
NM_014363.6(SACS):c.5368G>A (p.Ala1790Thr)	SNV Germline	Chr13:23338508	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia Spastic paraplegia Charlevoix-Saguenay spastic ataxia	Criteria Provided Conflicting Classifications	CA6911255	rs_147517201	3 SubmittersRCV001849125 RCV000821085 RCV001276943
NM_014363.6(SACS):c.2881C>T (p.Arg961Ter)	SNV Germline	Chr13:23340995	Pathogenic	Spastic paraplegia Charlevoix-Saguenay spastic ataxia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA387537418	rs_1593133395	6 SubmittersRCV000793079 RCV001830692 RCV004997319
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	CA6911822	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	CA387550421	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	CA246684171	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	CA8318587	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 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2839764	rs_200192011	4 SubmittersRCV000825502 RCV001644837 RCV001858398 RCV004678851
NM_014363.6(SACS):c.6434T>A (p.Leu2145Ter)	SNV Germline	Chr13:23337442	Pathogenic	Charlevoix-Saguenay spastic ataxia Spastic paraplegia Ovarian serous cystadenocarcinoma	Criteria Provided Multiple Submitters No Conflicts	CA6911083	rs_770490672	4 SubmittersRCV000850593 RCV001386982 RCV005906933
NM_014363.6(SACS):c.8132C>T (p.Ser2711Leu)	SNV Germline	Chr13:23335744	Conflicting classifications of pathogenicity	Spastic paraplegia not specified Charlevoix-Saguenay spastic ataxia See cases	Criteria Provided Conflicting Classifications	CA387517308	rs_1213203489	6 SubmittersRCV002538873 RCV003387938 RCV003467533 RCV004797883
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 Condition: not provided	Criteria Provided Conflicting Classifications	CA6910358	rs_141353693	4 SubmittersRCV000861725 RCV001825710 RCV001849148 RCV006440174
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	CA6910372	rs_150309559	5 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 not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA6910470	rs_200991790	6 SubmittersRCV000862368 RCV001109205 RCV006436921 RCV006440179
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	CA6910471	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	CA6910526	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	CA6910866	rs_200735789	8 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	CA6910933	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 Condition: not provided	Criteria Provided Conflicting Classifications	CA6910952	rs_148544893	6 SubmittersRCV000863351 RCV001115056 RCV001849169 RCV006440189
NM_014363.6(SACS):c.5502G>C (p.Leu1834=)	SNV Germline	Chr13:23338374	Conflicting classifications of pathogenicity	Spastic paraplegia Charlevoix-Saguenay spastic ataxia not specified Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA6911240	rs_34389000	7 SubmittersRCV000861553 RCV001115154 RCV001664489 RCV001849145
NM_014363.6(SACS):c.5461T>C (p.Cys1821Arg)	SNV Germline	Chr13:23338415	Conflicting classifications of pathogenicity	Condition: not provided Charlevoix-Saguenay spastic ataxia Spastic paraplegia Hereditary spastic paraplegia SACS-related disorder not specified	Criteria Provided Conflicting Classifications	CA6911247	rs_376680832	8 SubmittersRCV000863078 RCV001115156 RCV001080973 RCV001849165 RCV003955596 RCV004997409
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 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6911819	rs_778572943	6 SubmittersRCV000862304 RCV001088293 RCV001277267 RCV004659245
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 not specified	Criteria Provided Conflicting Classifications	CA6911889	rs_113756713	9 SubmittersRCV000861032 RCV001109712 RCV001552523 RCV001849134 RCV003938209 RCV006436917
NM_014363.6(SACS):c.1378C>T (p.Leu460Phe)	SNV Germline	Chr13:23355234	Conflicting classifications of pathogenicity	Spastic paraplegia Charlevoix-Saguenay spastic ataxia Hereditary spastic paraplegia Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA6911920	rs_145213666	5 SubmittersRCV000861435 RCV001277270 RCV001849142 RCV005235497 RCV004997403
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	CA6911989	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	CA6910073	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	CA6910970	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	CA6911458	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	CA6911527	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	CA6912016	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	CA246691794	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	CA6910898	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	CA6911287	rs_200699984	3 SubmittersRCV000874244 RCV001109529
NM_014363.6(SACS):c.4145A>G (p.His1382Arg)	SNV Germline	Chr13:23339731	Conflicting classifications of pathogenicity	Spastic paraplegia Charlevoix-Saguenay spastic ataxia	Criteria Provided Conflicting Classifications	CA6911427	rs_550057119	3 SubmittersRCV000876720 RCV001830926
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	CA6911856	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	CA8318775	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 not specified Hepatocellular carcinoma Lung cancer	Criteria Provided Conflicting Classifications	CA8319503	rs_143972053	5 SubmittersRCV000871154 RCV001847086 RCV003413694 RCV005438041 RCV005907090 RCV005907091
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	CA8319029	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 Charlevoix-Saguenay spastic ataxia Hereditary spastic paraplegia SACS-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA6910346	rs_773770705	5 SubmittersRCV000973335 RCV001832214 RCV001847118 RCV003953325 RCV006436984
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	CA6910688	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	CA483159247	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 Condition: not provided	Criteria Provided Conflicting Classifications	CA8318927	rs_148619121	4 SubmittersRCV001452858 RCV001847121 RCV002549567 RCV005243442
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	CA387508851	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	CA6912057	rs_780184251	3 SubmittersRCV000988966
NM_002109.6(HARS1):c.1393A>C (p.Ile465Leu)	SNV Germline	Chr5:140674744	Conflicting classifications of pathogenicity	11 conditions Usher syndrome type 3B Peripheral neuropathy Spastic ataxia HARS1-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA3443833	rs_754304255	6 SubmittersRCV001007622 RCV001246783 RCV001814247 RCV001644878 RCV003973002 RCV006256217
NM_002109.6(HARS1):c.616G>T (p.Asp206Tyr)	SNV Germline	Chr5:140677922	Pathogenic	10 conditions Spastic ataxia	Criteria Provided Single Submitter	CA361255445	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	CA387550673	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	CA6909990	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	CA387510271	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	CA6910302	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	CA6910303	rs_762041995	3 SubmittersRCV000992774 RCV001274919 RCV001858755
NM_014363.6(SACS):c.9677A>G (p.Tyr3226Cys)	SNV Germline	Chr13:23334199	Conflicting classifications of pathogenicity	Condition: not provided Charlevoix-Saguenay spastic ataxia Spastic paraplegia Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6910581	rs_776143384	4 SubmittersRCV000992802 RCV001273197 RCV002549812 RCV004958354
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	CA387514613	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 Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Conflicting Classifications	CA6911067	rs_368624188	5 SubmittersRCV000992795 RCV001111735 RCV001245042
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	CA6911092	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 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6911644	rs_760556327	5 SubmittersRCV000992785 RCV001832307 RCV002549810 RCV004962982
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	CA6911750	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 Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Conflicting Classifications	CA387548116	rs_1244967438	3 SubmittersRCV000992780 RCV001827138 RCV002550645
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	CA6911931	rs_199657817	3 SubmittersRCV000992777 RCV001832304 RCV002550644
NM_006796.3(AFG3L2):c.202C>T (p.Arg68Ter)	SNV Germline	Chr18:12371604	Pathogenic	Condition: not provided Spastic ataxia 5	Criteria Provided Multiple Submitters No Conflicts	CA8896828	rs_543422544	3 SubmittersRCV000992831 RCV004789302
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 not specified	Criteria Provided Conflicting Classifications	CA6910963	rs_762896797	9 SubmittersRCV000995035 RCV001115057 RCV001242408 RCV001847126 RCV005912213
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	CA6911207	rs_758570844	6 SubmittersRCV000995038 RCV001419225 RCV001578936 RCV002549896
NM_003119.4(SPG7):c.818G>A (p.Arg273His)	SNV Germline	Chr16:89529536	Conflicting classifications of pathogenicity	Condition: not provided Spastic ataxia Hereditary spastic paraplegia 7	Criteria Provided Conflicting Classifications	CA8243795	rs_770339981	3 SubmittersRCV000996404 RCV001644887 RCV005056731
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	CA8318574	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	CA387511967	rs_1593123432	2 SubmittersRCV001004402 RCV003750840
NM_014363.6(SACS):c.13614C>A (p.Tyr4538Ter)	SNV Germline	Chr13:23330262	Pathogenic/Likely pathogenic	Spastic paraplegia Charlevoix-Saguenay spastic ataxia	Criteria Provided Multiple Submitters No Conflicts	CA387504868	rs_927804920	3 SubmittersRCV001045016 RCV001832428
NM_014363.6(SACS):c.9232A>G (p.Asn3078Asp)	SNV Germline	Chr13:23334644	Conflicting classifications of pathogenicity	Spastic paraplegia Charlevoix-Saguenay spastic ataxia Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA387514892	rs_755698899	3 SubmittersRCV001039809 RCV001274925 RCV004963010
NM_014363.6(SACS):c.8454G>A (p.Trp2818Ter)	SNV Germline	Chr13:23335422	Pathogenic	Spastic paraplegia Charlevoix-Saguenay spastic ataxia	Criteria Provided Single Submitter	CA387516601	rs_1868481514	2 SubmittersRCV001036146 RCV005606753
NM_014363.6(SACS):c.5785C>T (p.Arg1929Trp)	SNV Germline	Chr13:23338091	Conflicting classifications of pathogenicity	Spastic paraplegia Charlevoix-Saguenay spastic ataxia Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6911196	rs_141019064	5 SubmittersRCV001064907 RCV001115152 RCV004963085
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	CA387525688	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	CA387526829	rs_1269546947	5 SubmittersRCV001043294 RCV001832412 RCV002280151 RCV003160304 RCV003953443
NM_014363.6(SACS):c.1297G>C (p.Ala433Pro)	SNV Germline	Chr13:23355315	Conflicting classifications of pathogenicity	Spastic paraplegia Charlevoix-Saguenay spastic ataxia Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6911933	rs_770677319	3 SubmittersRCV001052446 RCV001277272 RCV004963045
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	CA6911956	rs_769212398	4 SubmittersRCV001046270 RCV001261525
NM_014363.6(SACS):c.598A>G (p.Ile200Val)	SNV Germline	Chr13:23358341	Conflicting classifications of pathogenicity	Spastic paraplegia Charlevoix-Saguenay spastic ataxia	Criteria Provided Conflicting Classifications	CA6912053	rs_762268076	3 SubmittersRCV001067073 RCV001277273
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	CA6912166	rs_539836931	6 SubmittersRCV001043293 RCV001759750 RCV001784587 RCV003160303 RCV003953442
NM_006612.6(KIF1C):c.1165+3C>T	SNV Germline	Chr17:5005003	Conflicting classifications of pathogenicity	Spastic ataxia 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA8318877	rs_199890307	4 SubmittersRCV001048721 RCV001726425
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	CA8318591	rs_772475828	4 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	CA8318651	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	CA246646828	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	CA6909945	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	CA6909968	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	CA6909977	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	CA6910079	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	CA6910093	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	CA483157806	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	CA6910120	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	CA6910442	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	CA387512977	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 Malignant tumor of esophagus	Criteria Provided Conflicting Classifications	CA6910543	rs_563145604	5 SubmittersRCV001111539 RCV001477623 RCV001664692 RCV005913726
NM_014363.6(SACS):c.9283C>G (p.Pro3095Ala)	SNV Germline	Chr13:23334593	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia Spastic paraplegia Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6910641	rs_201899988	4 SubmittersRCV001113534 RCV002558133 RCV005732283
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	CA6910706	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	CA6910811	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 Condition: not provided	Criteria Provided Conflicting Classifications	CA6910883	rs_142697365	4 SubmittersRCV001112100 RCV001454999 RCV005641956
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	CA6910885	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	CA6910914	rs_747676277	12 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	CA6910917	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 Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA6910966	rs_772611372	5 SubmittersRCV001109416 RCV002556142 RCV005268910 RCV004792726
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	CA6911245	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	CA483162180	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 Condition: not provided	Criteria Provided Conflicting Classifications	CA6911312	rs_755523201	4 SubmittersRCV001109531 RCV001425988 RCV006443726
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 not specified	Criteria Provided Conflicting Classifications	CA6911413	rs_138245586	6 SubmittersRCV001111813 RCV001289170 RCV001482679 RCV005419000
NM_014363.6(SACS):c.4015A>C (p.Ile1339Leu)	SNV Germline	Chr13:23339861	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia Spastic paraplegia Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA6911446	rs_143144795	4 SubmittersRCV001112285 RCV001523475 RCV001847159
NM_014363.6(SACS):c.3346G>A (p.Gly1116Ser)	SNV Germline	Chr13:23340530	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia Spastic paraplegia Condition: not provided	Criteria Provided Conflicting Classifications	CA246662335	rs_774044532	3 SubmittersRCV001113628 RCV002556214 RCV004792730
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	CA6911621	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	CA6911681	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	CA6911913	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	CA6911941	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 not specified	Criteria Provided Conflicting Classifications	CA6912089	rs_145681117	4 SubmittersRCV001113813 RCV001489166 RCV004998653
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	CA246691858	rs_932552006	3 SubmittersRCV001109790 RCV001462819
NM_016035.5(COQ4):c.305G>A (p.Arg102His)	SNV Germline	Chr9:128325784	Pathogenic	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome Spastic ataxia Spastic ataxia 10, autosomal recessive	Criteria Provided Single Submitter	CA200334913	rs_929713295	2 SubmittersRCV001374711 RCV001644928 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	CA200342297	rs_568200779	3 SubmittersRCV001374710 RCV001644929
NM_000153.4(GALC):c.673G>A (p.Ala225Thr)	SNV Germline	Chr14:87976437	Pathogenic/Likely pathogenic	Galactosylceramide beta-galactosidase deficiency Spastic ataxia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA390749592	rs_1436074042	7 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	CA6911295	rs_755824618	7 SubmittersRCV001174760 RCV001387163
NM_014363.6(SACS):c.4724G>A (p.Arg1575Gln)	SNV Germline	Chr13:23339152	Conflicting classifications of pathogenicity	Charlevoix-Saguenay spastic ataxia Spastic paraplegia Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA6911352	rs_764992284	4 SubmittersRCV001195790 RCV002559244 RCV002560209 RCV003482337
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 not specified	Criteria Provided Conflicting Classifications	CA6910347	rs_138609508	4 SubmittersRCV001200357 RCV001491334 RCV001780106 RCV006455516
NM_014363.6(SACS):c.5147A>G (p.Lys1716Arg)	SNV Germline	Chr13:23338729	Conflicting classifications of pathogenicity	Spastic paraplegia Charlevoix-Saguenay spastic ataxia not specified	Criteria Provided Conflicting Classifications	CA6911294	rs_199998045	3 SubmittersRCV001224971 RCV001836173 RCV006266644
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	CA387554828	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	CA6909932	rs_375722463	3 SubmittersRCV001207368 RCV001833823
NM_014363.6(SACS):c.11116A>G (p.Ile3706Val)	SNV Germline	Chr13:23332760	Conflicting classifications of pathogenicity	Spastic paraplegia Charlevoix-Saguenay spastic ataxia Condition: not provided	Criteria Provided Conflicting Classifications	CA6910338	rs_748237614	3 SubmittersRCV001208129 RCV001828667 RCV006279430
NM_014363.6(SACS):c.9275A>T (p.Tyr3092Phe)	SNV Germline	Chr13:23334601	Conflicting classifications of pathogenicity	Spastic paraplegia Condition: not provided Charlevoix-Saguenay spastic ataxia Inborn genetic diseases not specified	Criteria Provided Conflicting Classifications	CA6910642	rs_139579036	7 SubmittersRCV001212079 RCV001507816 RCV001780126 RCV003363166 RCV005408751
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	CA246659017	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	CA7910710	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	CA6911342	rs_770007806	3 SubmittersRCV001225970 RCV001828802 RCV001847199
NM_024306.5(FA2H):c.965C>T (p.Ser322Leu)	SNV Germline	Chr16:74716421	Conflicting classifications of pathogenicity	Spastic ataxia Spastic paraplegia Condition: not provided Hereditary spastic paraplegia 35 not specified	Criteria Provided Conflicting Classifications	CA8170345	rs_373010581	5 SubmittersRCV001644956 RCV001235650 RCV004797914 RCV002471051 RCV003155377
NM_014363.6(SACS):c.11780C>T (p.Ala3927Val)	SNV Germline	Chr13:23332096	Conflicting classifications of pathogenicity	Spastic paraplegia Charlevoix-Saguenay spastic ataxia Condition: not provided	Criteria Provided Conflicting Classifications	CA6910220	rs_142926244	3 SubmittersRCV001242971 RCV001835147 RCV006279497
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	CA6910510	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	CA6910534	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 Condition: not provided Charlevoix-Saguenay spastic ataxia	Criteria Provided Conflicting Classifications	CA6910643	rs_149290718	4 SubmittersRCV001240147 RCV001507817 RCV001780177
NM_014363.6(SACS):c.8900G>A (p.Arg2967His)	SNV Germline	Chr13:23334976	Conflicting classifications of pathogenicity	Spastic paraplegia Charlevoix-Saguenay spastic ataxia Condition: not provided	Criteria Provided Conflicting Classifications	CA6910698	rs_777753707	3 SubmittersRCV001244187 RCV001835199 RCV006437028
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	CA6911174	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	CA6911520	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	CA6911591	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	CA401947289	rs_1907907851	1 SubmittersRCV001253808
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	CA6911321	rs_770901638	6 SubmittersRCV001255708 RCV001383726
NM_032756.4(HPDL):c.149G>A (p.Gly50Asp)	SNV Germline	Chr1:45327297	Pathogenic	Spastic paraplegia 83, autosomal recessive Condition: not provided Spastic paraplegia Spastic ataxia Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	Criteria Provided Multiple Submitters No Conflicts	CA340127806	rs_1391712320	6 SubmittersRCV001258386 RCV001268812 RCV001849493 RCV001819964 RCV004557495
NM_014363.6(SACS):c.11914C>T (p.Arg3972Ter)	SNV Germline	Chr13:23331962	Pathogenic/Likely pathogenic	Condition: not provided Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Multiple Submitters No Conflicts	CA6910204	rs_781491486	4 SubmittersRCV001268846 RCV002499459 RCV002541639
NM_014363.6(SACS):c.12538G>T (p.Glu4180Ter)	SNV Unknown	Chr13:23331338	Pathogenic	Charlevoix-Saguenay spastic ataxia	Criteria Provided Single Submitter	CA387507519	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	CA387508128	rs_2137559913	1 SubmittersRCV001391382
NM_014363.6(SACS):c.12014T>C (p.Leu4005Pro)	SNV Germline	Chr13:23331862	Pathogenic	Charlevoix-Saguenay spastic ataxia	Criteria Provided Multiple Submitters No Conflicts	CA387508684	rs_2137561906	2 SubmittersRCV001391381
NM_014363.6(SACS):c.7274G>C (p.Arg2425Pro)	SNV Germline	Chr13:23336602	Pathogenic	Charlevoix-Saguenay spastic ataxia	Criteria Provided Multiple Submitters No Conflicts	CA387519657	rs_771583552	2 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	CA387521064	rs_1868700605	3 SubmittersRCV001391623 RCV001880217
NM_014363.6(SACS):c.6126C>A (p.Cys2042Ter)	SNV Germline	Chr13:23337750	Pathogenic	Charlevoix-Saguenay spastic ataxia	Criteria Provided Multiple Submitters No Conflicts	CA387523847	rs_761655321	2 SubmittersRCV001391622
NM_014363.6(SACS):c.5761T>G (p.Tyr1921Asp)	SNV Germline	Chr13:23338115	Pathogenic	Charlevoix-Saguenay spastic ataxia	Criteria Provided Multiple Submitters No Conflicts	CA387524833	rs_2137616027	2 SubmittersRCV001391621
NM_014363.6(SACS):c.4724G>C (p.Arg1575Pro)	SNV Germline	Chr13:23339152	Pathogenic	Charlevoix-Saguenay spastic ataxia	Criteria Provided Multiple Submitters No Conflicts	CA387527940	rs_764992284	2 SubmittersRCV001391619
NM_014363.6(SACS):c.4718T>G (p.Met1573Arg)	SNV Germline	Chr13:23339158	Pathogenic	Charlevoix-Saguenay spastic ataxia	Criteria Provided Multiple Submitters No Conflicts	CA387527954	rs_2137625077	2 SubmittersRCV001391618
NM_006612.6(KIF1C):c.445A>T (p.Ile149Phe)	SNV Unknown	Chr17:5002479	Pathogenic	Spastic ataxia 2	Criteria Provided Single Submitter	CA397345780	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	CA6910170	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 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6910179	rs_753511073	4 SubmittersRCV001288698 RCV001835371 RCV002542995 RCV004967950
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	CA6910210	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 Charlevoix-Saguenay spastic ataxia Spastic paraplegia	Criteria Provided Conflicting Classifications	CA483159172	rs_1883570677	3 SubmittersRCV001288695 RCV001780235 RCV001454515
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	CA6910392	rs_755172172	3 SubmittersRCV001288372 RCV001836255 RCV003750861

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

SNV
Germline

Chr3:33046137

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA114658

rs_72555372

10 SubmittersRCV000000990 RCV000665526 RCV000780302 RCV001223149 RCV001331201 RCV001642195 RCV002225254

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

SNV
Germline

Chr22:50626265

Pathogenic

Metachromatic leukodystrophy
Spastic ataxia
Condition: not provided
Squamous cell carcinoma of the head and neck

Criteria Provided
Multiple Submitters
No Conflicts

CA278036

rs_74315473

7 SubmittersRCV000003223 RCV001642197 RCV004819990 RCV005887236

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

13 SubmittersRCV000005848 RCV001268308 RCV001851681 RCV001847584

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

SNV
Germline

Chr13:23331656

Pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Multiple Submitters
No Conflicts

CA253511

rs_137853016

3 SubmittersRCV000005849

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

SNV
Germline

Chr13:23338040

Pathogenic

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia
SACS-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA253513

rs_137853017

5 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

5 SubmittersRCV000023380 RCV000414375

NM_014363.6(SACS):c.10907G>A (p.Arg3636Gln)

SNV
Germline

Chr13:23332969

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA343112

rs_281865119

7 SubmittersRCV000032007 RCV001244900 RCV004998126

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

13 SubmittersRCV000032008 RCV000487627 RCV001044731

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

SNV
Germline

Chr16:89546737

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 7
Condition: not provided
Spastic Paraplegia, Recessive
Spastic paraparesis
Dysarthria
Gait ataxia
Cerebral cortical atrophy
Hereditary spastic paraplegia
Optic nerve hypoplasia
Inborn genetic diseases
Intellectual disability
Spastic ataxia
Sensorimotor neuropathy
Frontotemporal dementia and/or amyotrophic lateral sclerosis 2
SPG7-related disorder
Retinal dystrophy
Ovarian serous cystadenocarcinoma
Thymoma
Thyroid cancer, nonmedullary, 1
Melanoma
Acute myeloid leukemia
Uveal melanoma
Gastric cancer
Lung cancer
Familial cancer of breast
Hereditary ataxia
Uterine corpus endometrial carcinoma
Clear cell carcinoma of kidney
Sarcoma
Hepatocellular carcinoma
Cervical cancer
Optic neuropathy

Criteria Provided
Conflicting Classifications

CA090884

rs_61755320

72 SubmittersRCV000034858 RCV000195683 RCV000270813 RCV000626837 RCV000515835 RCV000677252 RCV000623796 RCV000850200 RCV001003619 RCV002463623 RCV003421943 RCV004814935 RCV005888961 RCV005888962 RCV005888963 RCV005888964 RCV005888954 RCV005888958 RCV005888960 RCV005888965 RCV005888953 RCV005624722 RCV005888966 RCV005888957 RCV005888959 RCV005888955 RCV005888956 RCV006255135

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

6 SubmittersRCV000049621 RCV001192781 RCV001646987

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

SNV
Germline

Chr17:5022272

Pathogenic

Spastic ataxia 2
KIF1C-related disorder
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA150723

rs_587777197

4 SubmittersRCV000087323 RCV004752746 RCV006277706

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

9 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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA199144

rs_143441644

14 SubmittersRCV000169636 RCV000256139 RCV001640262 RCV002515203 RCV003390884 RCV005003520

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

SNV
Germline/somatic

Chr9:127668159

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA302345

rs_786205598

15 SubmittersRCV000171427 RCV000502114 RCV000515202 RCV000509312 RCV001265420 RCV001266353 RCV001640264 RCV003488419 RCV006461740

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

15 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

17 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

5 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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA239316

rs_772742353

7 SubmittersRCV000658671 RCV001276936 RCV001852116 RCV005268560

NM_014363.6(SACS):c.8873A>G (p.Lys2958Arg)

SNV
Germline

Chr13:23335003

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA200741

rs_11839380

11 SubmittersRCV000173862 RCV000224353 RCV001084232 RCV001274927 RCV001847804

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
not specified

Criteria Provided
Conflicting Classifications

CA239318

rs_150981983

6 SubmittersRCV000173863 RCV001080295 RCV001277261 RCV004998368

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
not specified

Criteria Provided
Conflicting Classifications

CA250364

rs_148934699

10 SubmittersRCV000191099 RCV000415815 RCV001847848 RCV003917729 RCV006439756

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

Criteria Provided
Conflicting Classifications

CA207191

rs_144594804

11 SubmittersRCV000193599 RCV000509114 RCV000658865 RCV001391562 RCV001640291 RCV001847874

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

SNV
Germline

Chr13:23332894

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA207002

rs_36061856

11 SubmittersRCV000193480 RCV000278445 RCV000230933 RCV001079338 RCV001847870

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

SNV
Germline

Chr13:23332970

Pathogenic

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA276970

rs_780247476

9 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

19 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_138395.4(MARS2):c.61C>G (p.Leu21Val)

SNV
Germline

Chr2:197705466

Conflicting classifications of pathogenicity

Condition: not provided
Combined oxidative phosphorylation defect type 25
Spastic ataxia 3

Criteria Provided
Conflicting Classifications

CA323908

rs_140705634

3 SubmittersRCV002023299 RCV005397272

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

SNV
Germline

Chr4:6301166

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Wolfram syndrome 1
Wolfram-like syndrome
Cataract 41
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
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

14 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

22 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
AFG3L2-related disorder

Criteria Provided
Conflicting Classifications

CA321640

rs_117182113

10 SubmittersRCV000197194 RCV000369996 RCV000488282 RCV001262989 RCV004755808

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
Inborn genetic diseases
Spinocerebellar ataxia type 28
Spastic ataxia 5
Optic atrophy 12

Criteria Provided
Conflicting Classifications

CA319947

rs_139469785

10 SubmittersRCV000195592 RCV001122821 RCV001640293 RCV002517193 RCV003224221

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

SNV
Germline

Chr13:23332252

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA351289

rs_863224916

5 SubmittersRCV001843500 RCV001848018 RCV002305471 RCV005238774

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

SNV
Germline

Chr13:23339758

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6911430

rs_61548169

7 SubmittersRCV000224523 RCV000290021 RCV001084237 RCV001112284 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

10 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
Spastic ataxia 1
Myasthenic syndrome, congenital, 25, presynaptic

Criteria Provided
Multiple Submitters
No Conflicts

CA10583055

rs_878854975

5 SubmittersRCV000128446 RCV000233592 RCV000255544 RCV005008203

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

8 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

8 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

8 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

10 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
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6910674

rs_377657177

6 SubmittersRCV000232996 RCV000295984 RCV002518350 RCV004725115

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

13 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
not specified

Criteria Provided
Conflicting Classifications

CA6911032

rs_146722795

13 SubmittersRCV000260358 RCV000516875 RCV001081244 RCV001847976 RCV003929986 RCV006439834

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
not specified

Criteria Provided
Conflicting Classifications

CA6911186

rs_370902090

5 SubmittersRCV000225857 RCV000676365 RCV001578942 RCV004999157

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

SNV
Germline

Chr13:23340485

Conflicting classifications of pathogenicity

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
not specified

Criteria Provided
Conflicting Classifications

CA6911531

rs_139805032

4 SubmittersRCV000232090 RCV000988965 RCV004586646

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

11 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
Intellectual disability

Criteria Provided
Conflicting Classifications

CA6910891

rs_111920492

16 SubmittersRCV000243536 RCV000710207 RCV001082626 RCV001112102 RCV001848029 RCV003891946 RCV005625487

NM_014363.6(SACS):c.1839G>A (p.Gln613=)

SNV
Germline

Chr13:23354773

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6911843

rs_35840595

9 SubmittersRCV000247615 RCV000361137 RCV000676370 RCV001084224 RCV001848027

NM_014363.6(SACS):c.909A>G (p.Ala303=)

SNV
Germline

Chr13:23355703

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6912006

rs_41315020

10 SubmittersRCV000249605 RCV000344542 RCV000465285 RCV000676375

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
Spastic paraplegia
Hereditary spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA6911751

rs_752059006

15 SubmittersRCV000393719 RCV000454220 RCV000984212 RCV001859535 RCV001848046

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

10 SubmittersRCV000297710 RCV000411666 RCV001223182

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

SNV
Germline

Chr13:23334571

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10603290

rs_886041949

8 SubmittersRCV000377502 RCV000762910 RCV001379554 RCV001544509

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

6 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

9 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
Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Hereditary spastic paraplegia
not specified

Criteria Provided
Conflicting Classifications

CA6910829

rs_34928783

9 SubmittersRCV000512830 RCV001085541 RCV001111636 RCV001848058 RCV004999227

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

SNV
Germline

Chr6:152140066

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4052865

rs_139679692

8 SubmittersRCV000524861 RCV000713650 RCV001335277 RCV001642887 RCV003992260

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

SNV
Germline

Chr13:23333602

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6910476

rs_147317123

8 SubmittersRCV000327882 RCV000329092 RCV001082514 RCV003967757 RCV006439913

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

SNV
Germline

Chr13:23337636

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6911113

rs_550680855

6 SubmittersRCV000676363 RCV001111737 RCV001706417 RCV001086386

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

SNV
Germline

Chr13:23354695

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6911818

rs_138457742

4 SubmittersRCV001078709 RCV001283505 RCV001782774 RCV000710204

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
Charlevoix-Saguenay spastic ataxia
not specified
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6910551

rs_147506904

6 SubmittersRCV000281392 RCV001113530 RCV001288380 RCV001089187

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

SNV
Germline

Chr13:23332173

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6910237

rs_146154135

6 SubmittersRCV000313782 RCV001782776 RCV001089271 RCV001848062

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

9 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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6911409

rs_527513599

4 SubmittersRCV000333351 RCV001089050 RCV001782779 RCV005268585

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

SNV
Germline

Chr13:23332980

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6910375

rs_35256065

9 SubmittersRCV000392204 RCV000633069 RCV000518679 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

9 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
Spastic paraplegia
Inborn genetic diseases
Condition: not provided
not specified
Intellectual disability

Criteria Provided
Conflicting Classifications

CA6911051

rs_556248979

8 SubmittersRCV000282675 RCV000691162 RCV002520866 RCV004791402 RCV005238881 RCV005625541

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
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6911535

rs_143287019

6 SubmittersRCV000374188 RCV000860788 RCV001660627 RCV006441720

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

SNV
Germline

Chr13:23340834

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia
not specified

Criteria Provided
Conflicting Classifications

CA6911574

rs_141982796

4 SubmittersRCV000399926 RCV001416952 RCV006436735

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
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6911935

rs_138413501

6 SubmittersRCV000372498 RCV001060561 RCV004791403

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

SNV
Germline

Chr13:23355531

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6911975

rs_377027736

5 SubmittersRCV000293298 RCV001500911 RCV004999294 RCV006277785

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

SNV
Germline

Chr13:23355668

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6912001

rs_771115225

4 SubmittersRCV000289676 RCV002520873 RCV006436737

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

SNV
Germline

Chr13:23332084

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6910218

rs_764554878

4 SubmittersRCV000385354 RCV003750783 RCV006277784

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

7 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
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6910961

rs_142869943

7 SubmittersRCV000332938 RCV000863318 RCV001287913 RCV003930329 RCV006441718

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

7 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
Spastic paraplegia
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6911189

rs_145371235

7 SubmittersRCV000392069 RCV001081266 RCV004999293 RCV006263854

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
not specified

Criteria Provided
Conflicting Classifications

CA6911431

rs_61326562

6 SubmittersRCV000323040 RCV000884011 RCV001848103 RCV006441719

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
SACS-related disorder

Criteria Provided
Conflicting Classifications

CA6911561

rs_3751369

7 SubmittersRCV000279611 RCV000712974 RCV001081930 RCV001848104 RCV004748723

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
not specified

Criteria Provided
Conflicting Classifications

CA6911682

rs_151198216

5 SubmittersRCV000364679 RCV000867241 RCV006436736

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
not specified

Criteria Provided
Conflicting Classifications

CA6910143

rs_150959878

7 SubmittersRCV000268383 RCV000861751 RCV001848096 RCV003992276 RCV005434806

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
Inborn genetic diseases
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA10643107

rs_886050075

3 SubmittersRCV000350663 RCV004021564 RCV002520863

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

11 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
not specified

Criteria Provided
Conflicting Classifications

CA6910879

rs_186301471

6 SubmittersRCV000310623 RCV000865836 RCV001848098 RCV006436734

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
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6911463

rs_757939935

6 SubmittersRCV000379945 RCV000501904 RCV002520869 RCV004772893 RCV005732086

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

7 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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10643120

rs_886050090

6 SubmittersRCV000260394 RCV000712975 RCV002520874 RCV004965399

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
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6910428

rs_199881455

4 SubmittersRCV000304456 RCV001504069 RCV004791401

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

12 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
SACS-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6911820

rs_200333323

7 SubmittersRCV000306464 RCV001288709 RCV001400059 RCV001848105 RCV004748724 RCV004955414

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
not specified

Criteria Provided
Conflicting Classifications

CA7517435

rs_200125366

7 SubmittersRCV000400925 RCV001357218 RCV001642984 RCV002522790 RCV006441767

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

6 SubmittersRCV000410263 RCV001865265

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

SNV
Germline

Chr13:23332502

Pathogenic/Likely pathogenic

Charlevoix-Saguenay spastic ataxia
Condition: not provided
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA16041601

rs_565203731

10 SubmittersRCV000411243 RCV001310676 RCV003766121

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

SNV
Germline

Chr13:23332691

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

CA16041602

rs_1057516398

2 SubmittersRCV000409109

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

SNV
Unknown

Chr13:23333012

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

No Assertion Criteria Provided

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

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA16041607

rs_755186798

3 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

8 SubmittersRCV000412241 RCV000992769 RCV001861393

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

SNV
Unknown

Chr13:23335009

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

No Assertion Criteria Provided

CA16041614

rs_1057516853

1 SubmittersRCV000411855

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

SNV
Unknown

Chr13:23336015

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

No Assertion Criteria Provided

CA16041617

rs_1057517014

1 SubmittersRCV000408978

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

SNV
Unknown

Chr13:23336482

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

No Assertion Criteria Provided

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

Pathogenic/Likely pathogenic

Charlevoix-Saguenay spastic ataxia
Hereditary spastic paraplegia
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA6911218

rs_761089024

7 SubmittersRCV000409299 RCV000515938 RCV001865273

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

SNV
Unknown

Chr13:23338407

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

No Assertion Criteria Provided

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

7 SubmittersRCV000412006 RCV001224413

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

SNV
Germline

Chr13:23339578

Pathogenic

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Single Submitter

CA16041638

rs_1057516930

2 SubmittersRCV000410424 RCV006462574

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
Germline

Chr13:23340919

Pathogenic/Likely pathogenic

Charlevoix-Saguenay spastic ataxia
Condition: not provided
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA6911585

rs_766457071

3 SubmittersRCV000409140 RCV005639114 RCV006462577

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

SNV
Unknown

Chr13:23341546

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

No Assertion Criteria Provided

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

4 SubmittersRCV000412381 RCV002523873

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

SNV
Germline

Chr13:23341692

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

CA16041649

rs_1057516554

2 SubmittersRCV000410645

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

SNV
Germline

Chr13:23411239

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

CA6912209

rs_771943685

2 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
Autosomal recessive Parkinson disease 14
Infantile neuroaxonal dystrophy
Neurodegeneration with brain iron accumulation 2B
Acute myeloid leukemia

Criteria Provided
Conflicting Classifications

CA10231350

rs_11570607

6 SubmittersRCV000416070 RCV001144722 RCV001643138 RCV001865303 RCV005398506 RCV005900684

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

Criteria Provided
Multiple Submitters
No Conflicts

CA5260544

rs_747779231

6 SubmittersRCV000445097 RCV000845241 RCV003409591 RCV003482255 RCV006605267

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

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA6910624

rs_371019314

9 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
not specified
Intellectual disability

Criteria Provided
Conflicting Classifications

CA6910801

rs_186436335

8 SubmittersRCV000473308 RCV000594324 RCV000765121 RCV001848817 RCV004999477 RCV005625615

NM_014363.6(SACS):c.346-3T>A

SNV
Germline

Chr13:23365280

Conflicting classifications of pathogenicity

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6912110

rs_186506382

3 SubmittersRCV000457852 RCV001828484 RCV006443452

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

7 SubmittersRCV000458276 RCV000624366 RCV001785620

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

SNV
Germline

Chr13:23355579

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6911986

rs_776156836

8 SubmittersRCV000466492 RCV000519338 RCV001271972 RCV004022883 RCV005056027

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

SNV
Germline

Chr13:23332922

Conflicting classifications of pathogenicity

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6910364

rs_201505036

5 SubmittersRCV000466695 RCV001833594 RCV001288373

NM_018109.4(MTPAP):c.1072C>T (p.Arg358Trp)

SNV
Germline

Chr10:30322538

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Spastic ataxia 4

Criteria Provided
Conflicting Classifications

CA16618956

rs_918158750

3 SubmittersRCV000484288 RCV000623240 RCV006260057

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

SNV
Germline

Chr17:5002768

Likely pathogenic

Condition: not provided
Spastic ataxia 2

Criteria Provided
Multiple Submitters
No Conflicts

CA16620467

rs_1064796693

3 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
Clear cell carcinoma of kidney
Melanoma
Lung cancer
Sarcoma
Gastric cancer
Ovarian serous cystadenocarcinoma
Thymoma
Malignant tumor of esophagus
Cervical cancer

Criteria Provided
Conflicting Classifications

CA8318865

rs_142056835

6 SubmittersRCV000487792 RCV000497507 RCV000516075 RCV001079974 RCV005899678 RCV005899683 RCV005899684 RCV005899679 RCV005899680 RCV005899681 RCV005899682 RCV005899676 RCV005899677

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
Ovarian serous cystadenocarcinoma
Colorectal cancer
Acute myeloid leukemia

Criteria Provided
Conflicting Classifications

CA8319262

rs_118037269

8 SubmittersRCV000516023 RCV000645370 RCV001085955 RCV003915341 RCV005899675 RCV005899674 RCV005899673

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

5 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

6 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
Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6911327

rs_143961484

6 SubmittersRCV000503684 RCV000551798 RCV000765124 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
not specified

Criteria Provided
Conflicting Classifications

CA8318879

rs_192489748

6 SubmittersRCV000514056 RCV001080394 RCV001848880 RCV006438161

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

4 SubmittersRCV000517352 RCV001829472 RCV002525070

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

SNV
Germline

Chr13:23333758

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6910502

rs_200591364

5 SubmittersRCV000517432 RCV001834668 RCV000676353 RCV002527516 RCV005722143

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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6910654

rs_758654165

4 SubmittersRCV000516989 RCV001829476 RCV002525076 RCV004955574

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
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6910788

rs_763504656

7 SubmittersRCV000516833 RCV000765120 RCV002525074 RCV004691826

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

SNV
Germline

Chr13:23337540

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6911101

rs_80132141

7 SubmittersRCV000517696 RCV001080771 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

4 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
Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Hereditary spastic paraplegia
not specified

Criteria Provided
Conflicting Classifications

CA6911147

rs_35865691

6 SubmittersRCV000516670 RCV001082654 RCV001112183 RCV001848894 RCV005000085

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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6911148

rs_769751841

6 SubmittersRCV000518243 RCV000803901 RCV001783017 RCV003960224 RCV005722144

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

5 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

10 SubmittersRCV000516574 RCV001081341 RCV001109615 RCV001848892 RCV001644611 RCV003905307

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

SNV
Germline

Chr13:23341274

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6911659

rs_142284018

8 SubmittersRCV000518481 RCV000820462 RCV001111916 RCV001848891 RCV002525072 RCV006458454

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
Hereditary spastic paraplegia
Inborn genetic diseases
SACS-related disorder
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA6911833

rs_149638449

9 SubmittersRCV000518207 RCV001083870 RCV001113726 RCV001848890 RCV002525071 RCV004748801 RCV005901156

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

Condition: not provided
Spastic paraplegia
Charlevoix-Saguenay spastic ataxia

Criteria Provided
Conflicting Classifications

CA6911994

rs_144303334

6 SubmittersRCV000518798 RCV001083131 RCV001112021

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

10 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/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA387531824

rs_867249938

8 SubmittersRCV000521561 RCV000984213 RCV001064306 RCV004748805 RCV005625669

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

SNV
Germline

Chr13:23355005

Pathogenic/Likely pathogenic

Condition: not provided
Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA387547599

rs_1440541889

7 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

7 SubmittersRCV000522663 RCV000674847 RCV001224412 RCV003323587

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

SNV
Germline

Chr13:23375180

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA387554542

rs_866539724

7 SubmittersRCV000522808 RCV001834696 RCV002525178 RCV005056119 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

4 SubmittersRCV000543798 RCV003482287

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

SNV
Germline

Chr13:23331063

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6910078

rs_146376949

12 SubmittersRCV000712961 RCV001081835 RCV001114727 RCV001529134 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

9 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
Spastic paraplegia
Charlevoix-Saguenay spastic ataxia

Criteria Provided
Conflicting Classifications

CA6911721

rs_143677534

6 SubmittersRCV000555876 RCV001088901 RCV001271968

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
Hereditary spastic paraplegia
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA6910625

rs_762665640

5 SubmittersRCV000546063 RCV001274923 RCV001848925 RCV003403262 RCV005434997

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
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6911670

rs_756890722

5 SubmittersRCV000545527 RCV001834757 RCV001848921 RCV005000138

NM_014363.6(SACS):c.1886C>T (p.Ala629Val)

SNV
Germline

Chr13:23354726

Conflicting classifications of pathogenicity

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6911832

rs_760505057

3 SubmittersRCV000530995 RCV001829566 RCV006277874

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

SNV
Germline

Chr13:23337236

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6911049

rs_138379074

6 SubmittersRCV000538701 RCV000765122 RCV003482278 RCV002528313

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_014363.6(SACS):c.1483T>A (p.Phe495Ile)

SNV
Germline

Chr13:23355129

Conflicting classifications of pathogenicity

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6911908

rs_748972179

3 SubmittersRCV000552873 RCV001834756 RCV005480387

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
Melanoma
Uterine carcinosarcoma
Lung cancer
Ovarian serous cystadenocarcinoma

Criteria Provided
Conflicting Classifications

CA8318875

rs_79290524

5 SubmittersRCV000553957 RCV001848958 RCV002292564 RCV005896839 RCV005896838 RCV005896840 RCV005896837

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
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8318586

rs_185479618

3 SubmittersRCV000540072 RCV004791556

NM_016035.5(COQ4):c.469C>A (p.Gln157Lys)

SNV
Germline

Chr9:128332219

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA200341697

rs_1045118320

7 SubmittersRCV000578354 RCV000623610 RCV001268474 RCV005625688 RCV005049607

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

SNV
Germline

Chr13:23330261

Conflicting classifications of pathogenicity

Condition: not provided
Charlevoix-Saguenay spastic ataxia
not specified
Charcot-Marie-Tooth disease

Criteria Provided
Conflicting Classifications

CA387504864

rs_1555249106

4 SubmittersRCV000593641 RCV003465330 RCV004782459 RCV005625695

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

SNV
Germline

Chr13:23333208

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6910414

rs_139517699

7 SubmittersRCV000676351 RCV001086031 RCV001783099 RCV005000371

NM_014363.6(SACS):c.1255A>G (p.Ile419Val)

SNV
Germline

Chr13:23355357

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6911942

rs_767818359

5 SubmittersRCV000596432 RCV002532605 RCV002532604 RCV005392154

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

9 SubmittersRCV000612398 RCV000824757 RCV001380372 RCV001591363

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

SNV
Germline

Chr13:23334153

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6910575

rs_772595501

3 SubmittersRCV000625697 RCV002531924 RCV004025286

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

5 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
Charlevoix-Saguenay spastic ataxia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA387554637

rs_1365453773

4 SubmittersRCV000633012 RCV001835012 RCV002529815

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

11 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

11 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
not specified

Criteria Provided
Conflicting Classifications

CA6911347

rs_201558584

8 SubmittersRCV000633040 RCV001111812 RCV001508703 RCV001849005 RCV005240357

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
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8318508

rs_142773987

3 SubmittersRCV000645369 RCV001849025 RCV005243320

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

SNV
Germline

Chr4:6300976

Conflicting classifications of pathogenicity

Condition: not provided
Spastic ataxia
WFS1-related disorder
Autosomal dominant nonsyndromic hearing loss 6
Type 2 diabetes mellitus
Wolfram-like syndrome
Wolfram syndrome 1
Cataract 41

Criteria Provided
Conflicting Classifications

CA2839247

rs_146563951

6 SubmittersRCV000657864 RCV001644744 RCV004737937 RCV005027770

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

SNV
Germline

Chr18:12351347

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA296701043

rs_912546325

5 SubmittersRCV000658802 RCV001249473 RCV001253811 RCV001253812 RCV005409707

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

SNV
Germline

Chr13:23330600

Pathogenic

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Single Submitter

CA387505611

rs_1555249276

2 SubmittersRCV000673080 RCV003750816

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

SNV
Germline

Chr13:23331254

Pathogenic

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA387507336

rs_1555249555

3 SubmittersRCV000668994 RCV001232544

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

SNV
Germline

Chr13:23335149

Pathogenic

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Single Submitter

CA387515997

rs_1555250949

2 SubmittersRCV000667371 RCV001855479

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

SNV
Unknown

Chr13:23336766

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

No Assertion Criteria Provided

CA387520023

rs_1555251553

1 SubmittersRCV000674868

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

SNV
Unknown

Chr13:23337467

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

No Assertion Criteria Provided

CA387521968

rs_201690040

1 SubmittersRCV000666608

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

SNV
Germline

Chr13:23337746

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

CA387523835

rs_1408290451

2 SubmittersRCV000673160

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

SNV
Unknown

Chr13:23340202

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

No Assertion Criteria Provided

CA387534039

rs_959856535

1 SubmittersRCV000668407

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

SNV
Unknown

Chr13:23340419

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

No Assertion Criteria Provided

CA387535140

rs_1555252634

1 SubmittersRCV000670862

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

SNV
Germline

Chr13:23355651

Pathogenic/Likely pathogenic

Charlevoix-Saguenay spastic ataxia
Condition: not provided
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA387550686

rs_1175545518

11 SubmittersRCV000671337 RCV001090243 RCV001868253

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

SNV
Unknown

Chr13:23411238

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

No Assertion Criteria Provided

CA387507237

rs_1417057515

1 SubmittersRCV000666635

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

SNV
Unknown

Chr13:23331553

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

No Assertion Criteria Provided

CA387507998

rs_1555249633

1 SubmittersRCV000671025

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

SNV
Unknown

Chr13:23331941

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

No Assertion Criteria Provided

CA387508867

rs_1555249745

1 SubmittersRCV000674023

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

SNV
Unknown

Chr13:23332697

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

No Assertion Criteria Provided

CA387510563

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

CA6910821

rs_750181262

7 SubmittersRCV000668456 RCV001576889 RCV001868222

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

SNV
Unknown

Chr13:23339975

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

No Assertion Criteria Provided

CA387533310

rs_1555252531

1 SubmittersRCV000667332

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

SNV
Unknown

Chr13:23341013

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

No Assertion Criteria Provided

CA387537455

rs_1555252786

1 SubmittersRCV000667512

NM_014363.6(SACS):c.13645A>G (p.Asn4549Asp)

SNV
Germline

Chr13:23330231

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Conflicting Classifications

CA387504800

rs_1178912631

3 SubmittersRCV000669953

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

SNV
Unknown

Chr13:23341343

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

CA387538820

rs_1555252876

2 SubmittersRCV000664830

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

SNV
Unknown

Chr13:23330471

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

No Assertion Criteria Provided

CA387505332

rs_745961541

1 SubmittersRCV000672222

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

SNV
Unknown

Chr13:23341442

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

No Assertion Criteria Provided

CA387539040

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

CA6912020

rs_745907077

7 SubmittersRCV000670029 RCV001855535

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

SNV
Unknown

Chr13:23330592

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

No Assertion Criteria Provided

CA387505594

rs_753277514

1 SubmittersRCV000670810

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

SNV
Unknown

Chr13:23356008

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

No Assertion Criteria Provided

CA387551853

rs_1555254489

1 SubmittersRCV000668193

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

SNV
Unknown

Chr13:23332367

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

No Assertion Criteria Provided

CA387509827

rs_1555249881

1 SubmittersRCV000669284

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

SNV
Unknown

Chr13:23335847

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

No Assertion Criteria Provided

CA387517541

rs_1555251241

1 SubmittersRCV000667379

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

SNV
Unknown

Chr13:23336349

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

No Assertion Criteria Provided

CA387518840

rs_140034972

1 SubmittersRCV000665439

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

SNV
Germline

Chr13:23337521

Pathogenic

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA6911095

rs_766711286

9 SubmittersRCV000672257 RCV001387162 RCV004808839

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

SNV
Unknown

Chr13:23337824

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

No Assertion Criteria Provided

CA387524003

rs_1555251944

1 SubmittersRCV000673402

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

SNV
Unknown

Chr13:23338462

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

No Assertion Criteria Provided

CA387525719

rs_1555252113

1 SubmittersRCV000664891

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

SNV
Unknown

Chr13:23338595

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

No Assertion Criteria Provided

CA387526055

rs_1555252142

1 SubmittersRCV000671001

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

SNV
Germline

Chr13:23338801

Pathogenic

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Single Submitter

CA387526652

rs_1555252184

2 SubmittersRCV000667425 RCV003767955

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

SNV
Unknown

Chr13:23338866

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

No Assertion Criteria Provided

CA387526905

rs_1459899547

1 SubmittersRCV000672847

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

CA387551862

rs_1555254734

3 SubmittersRCV000666450 RCV003750811

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

SNV
Unknown

Chr13:23333789

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

No Assertion Criteria Provided

CA387512997

rs_1555250359

1 SubmittersRCV000673894

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

SNV
Unknown

Chr13:23335396

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

No Assertion Criteria Provided

CA387516544

rs_1555251015

1 SubmittersRCV000667851

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

SNV
Germline

Chr13:23335499

Pathogenic

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Single Submitter

CA387516772

rs_1240368715

2 SubmittersRCV000674504 RCV002532164

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

SNV
Unknown

Chr13:23336957

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

No Assertion Criteria Provided

CA387520457

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

CA387524925

rs_1485209013

6 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

CA387535305

rs_144267558

3 SubmittersRCV000670813

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

SNV
Unknown

Chr13:23341312

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

No Assertion Criteria Provided

CA387538753

rs_142037771

1 SubmittersRCV000669728

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

SNV
Unknown

Chr13:23341589

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

No Assertion Criteria Provided

CA387539613

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
Spastic paraplegia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6911990

rs_767435985

4 SubmittersRCV000673666 RCV002060828 RCV001849042

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

SNV
Germline

Chr13:23355780

Pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

CA387551048

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

CA387534851

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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6911823

rs_201752905

5 SubmittersRCV000676369 RCV001049324 RCV001113725 RCV004659160

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

SNV
Germline

Chr13:23368485

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA387553373

rs_1555255676

5 SubmittersRCV000677658 RCV001816685 RCV002305528 RCV002544685

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

SNV
Germline

Chr9:132330130

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5297771

rs_763545230

7 SubmittersRCV000700292 RCV000713198 RCV001644767 RCV002388306 RCV003233823 RCV003233822

NM_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

CA6910971

rs_752273313

3 SubmittersRCV000690739 RCV001275189 RCV002547157

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

SNV
Germline

Chr13:23341100

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6911627

rs_144362131

7 SubmittersRCV001257223 RCV001111915 RCV001849073 RCV004997239

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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6910605

rs_200453385

4 SubmittersRCV000689777 RCV001829908 RCV001849054 RCV004958003

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

CA6910022

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

CA6910297

rs_145188410

5 SubmittersRCV000698539 RCV001111442

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

SNV
Germline

Chr13:23341582

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6911710

rs_141553858

5 SubmittersRCV000688531 RCV001756169 RCV001784312 RCV005418300

NM_006612.6(KIF1C):c.14C>T (p.Ser5Leu)

SNV
Germline

Chr17:5000260

Conflicting classifications of pathogenicity

Spastic ataxia 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8318418

rs_747424547

2 SubmittersRCV000684908 RCV006367227

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

CA8318642

rs_141189136

3 SubmittersRCV000687046 RCV001252794 RCV003258918

NM_014363.6(SACS):c.5906A>G (p.His1969Arg)

SNV
Germline

Chr13:23337970

Conflicting classifications of pathogenicity

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6911173

rs_776693219

3 SubmittersRCV000693766 RCV001825352 RCV004958013

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

SNV
Germline

Chr13:23341384

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6911680

rs_375968367

4 SubmittersRCV000700961 RCV001271967 RCV002533606 RCV002473121

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

CA6911896

rs_190617851

8 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

CA2231480

rs_750473506

4 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

CA6910158

rs_373478772

3 SubmittersRCV000712960 RCV001274917 RCV002532942

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

SNV
Germline

Chr13:23331728

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6910176

rs_147013767

5 SubmittersRCV001049336 RCV001644778 RCV001274918 RCV003480803 RCV004748913

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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6910288

rs_753844954

4 SubmittersRCV000712957 RCV001825423 RCV002532941 RCV005480467

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

CA6910331

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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6910489

rs_375898103

5 SubmittersRCV000712954 RCV001273195 RCV001491310 RCV005480466

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

CA6910580

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

CA6910604

rs_137905181

7 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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6910747

rs_760976439

5 SubmittersRCV000712992 RCV000800081 RCV001276935 RCV005722187

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

CA246657061

rs_1007936574

6 SubmittersRCV000712989 RCV001784353 RCV002534516

NM_014363.6(SACS):c.6993A>T (p.Glu2331Asp)

SNV
Germline

Chr13:23336883

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6910986

rs_759201960

3 SubmittersRCV000712987 RCV001825425 RCV005480468

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

SNV
Germline

Chr13:23337698

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6911121

rs_373226693

4 SubmittersRCV000712980 RCV001830584 RCV002534515 RCV002534514

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

CA6911201

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

CA6911578

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
not specified

Criteria Provided
Conflicting Classifications

CA6911665

rs_41283958

12 SubmittersRCV000712969 RCV000765125 RCV001087176 RCV001849072 RCV005418322

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

CA6911808

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

CA6911841

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

CA482925356

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

CA404336905

rs_1568447650

4 SubmittersRCV000710963 RCV000855537

NM_014363.6(SACS):c.11101T>C (p.Trp3701Arg)

SNV
Germline

Chr13:23332775

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
not specified
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6910340

rs_773588375

3 SubmittersRCV000757941 RCV003317355 RCV006464145

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

SNV
Unknown

Chr13:23339773

Pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

CA387532457

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

CA6910344

rs_148925505

7 SubmittersRCV000761851 RCV001111443 RCV001241078 RCV001849092

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

SNV
Germline

Chr10:132785142

Pathogenic/Likely pathogenic

Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA378769253

rs_1565019928

4 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

CA378769311

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

CA378769371

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

CA378769540

rs_776560015

3 SubmittersRCV000770990

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

SNV
Germline

Chr4:25124044

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2877152

rs_773969315

4 SubmittersRCV001644813 RCV002535655 RCV005407955 RCV005358038

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

SNV
Germline

Chr13:23334206

Pathogenic

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA6910584

rs_751568153

2 SubmittersRCV000781830 RCV003750821

NM_016035.5(COQ4):c.304C>T (p.Arg102Cys)

SNV
Germline

Chr9:128325783

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5260510

rs_371984550

4 SubmittersRCV000784995 RCV003482303 RCV006278081

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

CA5260480

rs_779568890

3 SubmittersRCV000792805 RCV001644823

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

SNV
Germline

Chr12:51721700

Conflicting classifications of pathogenicity

Spastic ataxia
Early-infantile DEE

Criteria Provided
Conflicting Classifications

CA6571332

rs_755358223

2 SubmittersRCV001644826 RCV006464295

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

SNV
Germline

Chr13:23333671

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6910487

rs_543563990

5 SubmittersRCV000802657 RCV001274921 RCV006367351 RCV004997348

NM_014363.6(SACS):c.6857A>G (p.Lys2286Arg)

SNV
Germline

Chr13:23337019

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6911014

rs_754381972

4 SubmittersRCV001275190 RCV005865389 RCV005480483 RCV000791527

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

CA6911086

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

Criteria Provided
Conflicting Classifications

CA6911096

rs_754033201

5 SubmittersRCV000805719 RCV001275192 RCV001287906 RCV004958118

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

SNV
Germline

Chr13:23338508

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Spastic paraplegia
Charlevoix-Saguenay spastic ataxia

Criteria Provided
Conflicting Classifications

CA6911255

rs_147517201

3 SubmittersRCV001849125 RCV000821085 RCV001276943

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

SNV
Germline

Chr13:23340995

Pathogenic

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA387537418

rs_1593133395

6 SubmittersRCV000793079 RCV001830692 RCV004997319

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

CA6911822

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

CA387550421

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

CA246684171

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

CA8318587

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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2839764

rs_200192011

4 SubmittersRCV000825502 RCV001644837 RCV001858398 RCV004678851

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

SNV
Germline

Chr13:23337442

Pathogenic

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia
Ovarian serous cystadenocarcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA6911083

rs_770490672

4 SubmittersRCV000850593 RCV001386982 RCV005906933

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

SNV
Germline

Chr13:23335744

Conflicting classifications of pathogenicity

Spastic paraplegia
not specified
Charlevoix-Saguenay spastic ataxia
See cases

Criteria Provided
Conflicting Classifications

CA387517308

rs_1213203489

6 SubmittersRCV002538873 RCV003387938 RCV003467533 RCV004797883

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
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6910358

rs_141353693

4 SubmittersRCV000861725 RCV001825710 RCV001849148 RCV006440174

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

CA6910372

rs_150309559

5 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
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6910470

rs_200991790

6 SubmittersRCV000862368 RCV001109205 RCV006436921 RCV006440179

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

CA6910471

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

CA6910526

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

CA6910866

rs_200735789

8 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

CA6910933

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
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6910952

rs_148544893

6 SubmittersRCV000863351 RCV001115056 RCV001849169 RCV006440189

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

SNV
Germline

Chr13:23338374

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6911240

rs_34389000

7 SubmittersRCV000861553 RCV001115154 RCV001664489 RCV001849145

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

SNV
Germline

Chr13:23338415

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6911247

rs_376680832

8 SubmittersRCV000863078 RCV001115156 RCV001080973 RCV001849165 RCV003955596 RCV004997409

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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6911819

rs_778572943

6 SubmittersRCV000862304 RCV001088293 RCV001277267 RCV004659245

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
not specified

Criteria Provided
Conflicting Classifications

CA6911889

rs_113756713

9 SubmittersRCV000861032 RCV001109712 RCV001552523 RCV001849134 RCV003938209 RCV006436917

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

SNV
Germline

Chr13:23355234

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6911920

rs_145213666

5 SubmittersRCV000861435 RCV001277270 RCV001849142 RCV005235497 RCV004997403

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

CA6911989

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

CA6910073

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

CA6910970

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

CA6911458

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

CA6911527

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

CA6912016

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

CA246691794

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

CA6910898

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

CA6911287

rs_200699984

3 SubmittersRCV000874244 RCV001109529

NM_014363.6(SACS):c.4145A>G (p.His1382Arg)

SNV
Germline

Chr13:23339731

Conflicting classifications of pathogenicity

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia

Criteria Provided
Conflicting Classifications

CA6911427

rs_550057119

3 SubmittersRCV000876720 RCV001830926

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

CA6911856

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

CA8318775

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
not specified
Hepatocellular carcinoma
Lung cancer

Criteria Provided
Conflicting Classifications

CA8319503

rs_143972053

5 SubmittersRCV000871154 RCV001847086 RCV003413694 RCV005438041 RCV005907090 RCV005907091

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

CA8319029

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

Criteria Provided
Conflicting Classifications

CA6910346

rs_773770705

5 SubmittersRCV000973335 RCV001832214 RCV001847118 RCV003953325 RCV006436984

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

CA6910688

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

CA483159247

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
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8318927

rs_148619121

4 SubmittersRCV001452858 RCV001847121 RCV002549567 RCV005243442

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

CA387508851

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

CA6912057

rs_780184251

3 SubmittersRCV000988966

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

SNV
Germline

Chr5:140674744

Conflicting classifications of pathogenicity

11 conditions
Usher syndrome type 3B
Peripheral neuropathy
Spastic ataxia
HARS1-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3443833

rs_754304255

6 SubmittersRCV001007622 RCV001246783 RCV001814247 RCV001644878 RCV003973002 RCV006256217

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

SNV
Germline

Chr5:140677922

Pathogenic

10 conditions
Spastic ataxia

Criteria Provided
Single Submitter

CA361255445

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

CA387550673

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

CA6909990

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

CA387510271

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

CA6910302

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

CA6910303

rs_762041995

3 SubmittersRCV000992774 RCV001274919 RCV001858755

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

SNV
Germline

Chr13:23334199

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6910581

rs_776143384

4 SubmittersRCV000992802 RCV001273197 RCV002549812 RCV004958354

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

CA387514613

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
Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6911067

rs_368624188

5 SubmittersRCV000992795 RCV001111735 RCV001245042

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

CA6911092

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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6911644

rs_760556327

5 SubmittersRCV000992785 RCV001832307 RCV002549810 RCV004962982

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

CA6911750

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
Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA387548116

rs_1244967438

3 SubmittersRCV000992780 RCV001827138 RCV002550645

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

CA6911931

rs_199657817

3 SubmittersRCV000992777 RCV001832304 RCV002550644

NM_006796.3(AFG3L2):c.202C>T (p.Arg68Ter)

SNV
Germline

Chr18:12371604

Pathogenic

Condition: not provided
Spastic ataxia 5

Criteria Provided
Multiple Submitters
No Conflicts

CA8896828

rs_543422544

3 SubmittersRCV000992831 RCV004789302

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
not specified

Criteria Provided
Conflicting Classifications

CA6910963

rs_762896797

9 SubmittersRCV000995035 RCV001115057 RCV001242408 RCV001847126 RCV005912213

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

CA6911207

rs_758570844

6 SubmittersRCV000995038 RCV001419225 RCV001578936 RCV002549896

NM_003119.4(SPG7):c.818G>A (p.Arg273His)

SNV
Germline

Chr16:89529536

Conflicting classifications of pathogenicity

Condition: not provided
Spastic ataxia
Hereditary spastic paraplegia 7

Criteria Provided
Conflicting Classifications

CA8243795

rs_770339981

3 SubmittersRCV000996404 RCV001644887 RCV005056731

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

CA8318574

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

CA387511967

rs_1593123432

2 SubmittersRCV001004402 RCV003750840

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

SNV
Germline

Chr13:23330262

Pathogenic/Likely pathogenic

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia

Criteria Provided
Multiple Submitters
No Conflicts

CA387504868

rs_927804920

3 SubmittersRCV001045016 RCV001832428

NM_014363.6(SACS):c.9232A>G (p.Asn3078Asp)

SNV
Germline

Chr13:23334644

Conflicting classifications of pathogenicity

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA387514892

rs_755698899

3 SubmittersRCV001039809 RCV001274925 RCV004963010

NM_014363.6(SACS):c.8454G>A (p.Trp2818Ter)

SNV
Germline

Chr13:23335422

Pathogenic

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

CA387516601

rs_1868481514

2 SubmittersRCV001036146 RCV005606753

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

SNV
Germline

Chr13:23338091

Conflicting classifications of pathogenicity

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6911196

rs_141019064

5 SubmittersRCV001064907 RCV001115152 RCV004963085

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

CA387525688

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

CA387526829

rs_1269546947

5 SubmittersRCV001043294 RCV001832412 RCV002280151 RCV003160304 RCV003953443

NM_014363.6(SACS):c.1297G>C (p.Ala433Pro)

SNV
Germline

Chr13:23355315

Conflicting classifications of pathogenicity

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6911933

rs_770677319

3 SubmittersRCV001052446 RCV001277272 RCV004963045

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

CA6911956

rs_769212398

4 SubmittersRCV001046270 RCV001261525

NM_014363.6(SACS):c.598A>G (p.Ile200Val)

SNV
Germline

Chr13:23358341

Conflicting classifications of pathogenicity

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia

Criteria Provided
Conflicting Classifications

CA6912053

rs_762268076

3 SubmittersRCV001067073 RCV001277273

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

CA6912166

rs_539836931

6 SubmittersRCV001043293 RCV001759750 RCV001784587 RCV003160303 RCV003953442

NM_006612.6(KIF1C):c.1165+3C>T

SNV
Germline

Chr17:5005003

Conflicting classifications of pathogenicity

Spastic ataxia 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8318877

rs_199890307

4 SubmittersRCV001048721 RCV001726425

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

CA8318591

rs_772475828

4 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

CA8318651

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

CA246646828

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

CA6909945

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

CA6909968

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

CA6909977

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

CA6910079

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

CA6910093

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

CA483157806

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

CA6910120

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

CA6910442

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

CA387512977

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
Malignant tumor of esophagus

Criteria Provided
Conflicting Classifications

CA6910543

rs_563145604

5 SubmittersRCV001111539 RCV001477623 RCV001664692 RCV005913726

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

SNV
Germline

Chr13:23334593

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6910641

rs_201899988

4 SubmittersRCV001113534 RCV002558133 RCV005732283

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

CA6910706

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

CA6910811

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
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6910883

rs_142697365

4 SubmittersRCV001112100 RCV001454999 RCV005641956

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

CA6910885

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

CA6910914

rs_747676277

12 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

CA6910917

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
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6910966

rs_772611372

5 SubmittersRCV001109416 RCV002556142 RCV005268910 RCV004792726

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

CA6911245

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

CA483162180

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
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6911312

rs_755523201

4 SubmittersRCV001109531 RCV001425988 RCV006443726

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
not specified

Criteria Provided
Conflicting Classifications

CA6911413

rs_138245586

6 SubmittersRCV001111813 RCV001289170 RCV001482679 RCV005419000

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

SNV
Germline

Chr13:23339861

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6911446

rs_143144795

4 SubmittersRCV001112285 RCV001523475 RCV001847159

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

SNV
Germline

Chr13:23340530

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA246662335

rs_774044532

3 SubmittersRCV001113628 RCV002556214 RCV004792730

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

CA6911621

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

CA6911681

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

CA6911913

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

CA6911941

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
not specified

Criteria Provided
Conflicting Classifications

CA6912089

rs_145681117

4 SubmittersRCV001113813 RCV001489166 RCV004998653

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

CA246691858

rs_932552006

3 SubmittersRCV001109790 RCV001462819

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

SNV
Germline

Chr9:128325784

Pathogenic

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

Criteria Provided
Single Submitter

CA200334913

rs_929713295

2 SubmittersRCV001374711 RCV001644928 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

CA200342297

rs_568200779

3 SubmittersRCV001374710 RCV001644929

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

SNV
Germline

Chr14:87976437

Pathogenic/Likely pathogenic

Galactosylceramide beta-galactosidase deficiency
Spastic ataxia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA390749592

rs_1436074042

7 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

CA6911295

rs_755824618

7 SubmittersRCV001174760 RCV001387163

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

SNV
Germline

Chr13:23339152

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6911352

rs_764992284

4 SubmittersRCV001195790 RCV002559244 RCV002560209 RCV003482337

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
not specified

Criteria Provided
Conflicting Classifications

CA6910347

rs_138609508

4 SubmittersRCV001200357 RCV001491334 RCV001780106 RCV006455516

NM_014363.6(SACS):c.5147A>G (p.Lys1716Arg)

SNV
Germline

Chr13:23338729

Conflicting classifications of pathogenicity

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
not specified

Criteria Provided
Conflicting Classifications

CA6911294

rs_199998045

3 SubmittersRCV001224971 RCV001836173 RCV006266644

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

CA387554828

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

CA6909932

rs_375722463

3 SubmittersRCV001207368 RCV001833823

NM_014363.6(SACS):c.11116A>G (p.Ile3706Val)

SNV
Germline

Chr13:23332760

Conflicting classifications of pathogenicity

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6910338

rs_748237614

3 SubmittersRCV001208129 RCV001828667 RCV006279430

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

SNV
Germline

Chr13:23334601

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6910642

rs_139579036

7 SubmittersRCV001212079 RCV001507816 RCV001780126 RCV003363166 RCV005408751

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

CA246659017

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

CA7910710

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

CA6911342

rs_770007806

3 SubmittersRCV001225970 RCV001828802 RCV001847199

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

SNV
Germline

Chr16:74716421

Conflicting classifications of pathogenicity

Spastic ataxia
Spastic paraplegia
Condition: not provided
Hereditary spastic paraplegia 35
not specified

Criteria Provided
Conflicting Classifications

CA8170345

rs_373010581

5 SubmittersRCV001644956 RCV001235650 RCV004797914 RCV002471051 RCV003155377

NM_014363.6(SACS):c.11780C>T (p.Ala3927Val)

SNV
Germline

Chr13:23332096

Conflicting classifications of pathogenicity

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6910220

rs_142926244

3 SubmittersRCV001242971 RCV001835147 RCV006279497

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

CA6910510

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

CA6910534

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
Condition: not provided
Charlevoix-Saguenay spastic ataxia

Criteria Provided
Conflicting Classifications

CA6910643

rs_149290718

4 SubmittersRCV001240147 RCV001507817 RCV001780177

NM_014363.6(SACS):c.8900G>A (p.Arg2967His)

SNV
Germline

Chr13:23334976

Conflicting classifications of pathogenicity

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6910698

rs_777753707

3 SubmittersRCV001244187 RCV001835199 RCV006437028

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

CA6911174

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

CA6911520

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

CA6911591

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

CA401947289

rs_1907907851

1 SubmittersRCV001253808

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

CA6911321

rs_770901638

6 SubmittersRCV001255708 RCV001383726

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

SNV
Germline

Chr1:45327297

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA340127806

rs_1391712320

6 SubmittersRCV001258386 RCV001268812 RCV001849493 RCV001819964 RCV004557495

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

SNV
Germline

Chr13:23331962

Pathogenic/Likely pathogenic

Condition: not provided
Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA6910204

rs_781491486

4 SubmittersRCV001268846 RCV002499459 RCV002541639

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

SNV
Unknown

Chr13:23331338

Pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

CA387507519

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

CA387508128

rs_2137559913

1 SubmittersRCV001391382

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

SNV
Germline

Chr13:23331862

Pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Multiple Submitters
No Conflicts

CA387508684

rs_2137561906

2 SubmittersRCV001391381

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

SNV
Germline

Chr13:23336602

Pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Multiple Submitters
No Conflicts

CA387519657

rs_771583552

2 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

CA387521064

rs_1868700605

3 SubmittersRCV001391623 RCV001880217

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

SNV
Germline

Chr13:23337750

Pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Multiple Submitters
No Conflicts

CA387523847

rs_761655321

2 SubmittersRCV001391622

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

SNV
Germline

Chr13:23338115

Pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Multiple Submitters
No Conflicts

CA387524833

rs_2137616027

2 SubmittersRCV001391621

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

SNV
Germline

Chr13:23339152

Pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Multiple Submitters
No Conflicts

CA387527940

rs_764992284

2 SubmittersRCV001391619

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

SNV
Germline

Chr13:23339158

Pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Multiple Submitters
No Conflicts

CA387527954

rs_2137625077

2 SubmittersRCV001391618

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

SNV
Unknown

Chr17:5002479

Pathogenic

Spastic ataxia 2

Criteria Provided
Single Submitter

CA397345780

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

CA6910170

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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6910179

rs_753511073

4 SubmittersRCV001288698 RCV001835371 RCV002542995 RCV004967950

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

CA6910210

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
Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA483159172

rs_1883570677

3 SubmittersRCV001288695 RCV001780235 RCV001454515

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

CA6910392

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

CA6910492

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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6910810

rs_201127191

8 SubmittersRCV001287918 RCV001328753 RCV002537966 RCV005480657

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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6911033

rs_202110208

4 SubmittersRCV001287910 RCV001830092 RCV002537965 RCV006372430

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

CA6911325

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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6911339

rs_771080306

5 SubmittersRCV001289174 RCV001830107 RCV003588737 RCV005722357

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

SNV
Germline

Chr13:23339577

Pathogenic

Condition: not provided
Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

CA6911408

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

CA6911617

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

CA6911663

rs_776290829

7 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

CA6911919

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

CA1465547

rs_746911004

2 SubmittersRCV001319842 RCV001644984

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

SNV
Unknown

Chr1:160135837

Pathogenic

Spastic ataxia

Criteria Provided
Single Submitter

CA343249836

rs_2101995423

1 SubmittersRCV001647244

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

SNV
Germline

Chr1:173831554

Conflicting classifications of pathogenicity

Spastic ataxia
Mitochondrial disease
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome

Criteria Provided
Conflicting Classifications

CA343759024

rs_1279409996

3 SubmittersRCV001647157 RCV005361534 RCV005253803

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

SNV
Germline

Chr1:228158060

Conflicting classifications of pathogenicity

Spastic ataxia
Hypomyelinating leukodystrophy 2
Spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1430839

rs_375288744

4 SubmittersRCV001647154 RCV002298930 RCV002546241 RCV004727148

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

SNV
Unknown

Chr1:31059346

Likely pathogenic

Spastic ataxia

Criteria Provided
Single Submitter

CA339572588

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

CA340574841

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

CA348798246

rs_2151410142

1 SubmittersRCV001647152

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

SNV
Germline

Chr2:165388920

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA349038236

rs_2105402552

3 SubmittersRCV001647222 RCV002298931 RCV003234046

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

SNV
Germline

Chr2:240773155

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2208535

rs_759791775

2 SubmittersRCV001647221 RCV001859247

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

SNV
Germline

Chr6:152505273

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA366148773

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

CA364656345

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

CA371694074

rs_2130735756

1 SubmittersRCV001647250

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

SNV
Germline

Chr9:127660081

Conflicting classifications of pathogenicity

Spastic ataxia
Inborn genetic diseases
Early-infantile DEE

Criteria Provided
Conflicting Classifications

CA5248285

rs_764758291

3 SubmittersRCV001647179 RCV002438759 RCV006466494

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

SNV
Germline

Chr9:127663209

Pathogenic/Likely pathogenic

Condition: not provided
Spastic ataxia
Early-infantile DEE

Criteria Provided
Multiple Submitters
No Conflicts

CA374932881

rs_2131462357

3 SubmittersRCV002286839 RCV001647178 RCV006557366

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

SNV
Unknown

Chr9:128611810

Likely pathogenic

Spastic ataxia

Criteria Provided
Single Submitter

CA375070486

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

CA5296961

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

CA375350279

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

CA376434716

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
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6911589

rs_751415868

3 SubmittersRCV001647189 RCV002546246 RCV005256770

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

SNV
Unknown

Chr13:37005950

Pathogenic

Spastic ataxia

Criteria Provided
Single Submitter

CA6951178

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

CA389940852

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

CA390748093

rs_867226993

1 SubmittersRCV001647255

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

SNV
Unknown

Chr14:91307032

Likely pathogenic

Spastic ataxia

Criteria Provided
Single Submitter

CA2499222779

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

CA390612362

rs_1324937983

1 SubmittersRCV001647214

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

SNV
Germline

Chr15:68209636

Likely pathogenic

Spastic ataxia
Ceroid lipofuscinosis, neuronal, 6A
Ceroid lipofuscinosis, neuronal, 6B (Kufs type)

Criteria Provided
Multiple Submitters
No Conflicts

CA392972775

rs_796052356

2 SubmittersRCV001647223 RCV005005179

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

SNV
Unknown

Chr16:89935475

Likely pathogenic

Spastic ataxia

Criteria Provided
Single Submitter

CA397476523

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

CA291610471

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

CA400264474

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
Joubert syndrome

Criteria Provided
Conflicting Classifications

CA8669568

rs_201574278

2 SubmittersRCV001647188 RCV002546245

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

SNV
Germline

Chr18:12340286

Conflicting classifications of pathogenicity

Spastic ataxia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA401947012

rs_1320367366

2 SubmittersRCV001647156 RCV004815388

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

SNV
Unknown

Chr18:12344199

Likely pathogenic

Spastic ataxia

Criteria Provided
Single Submitter

CA8896421

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

CA403968237

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

CA403974496

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

CA9139520

rs_780995803

1 SubmittersRCV001647158

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

SNV
Germline

Chr19:7551105

Conflicting classifications of pathogenicity

Spastic ataxia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA304875569

rs_889723987

2 SubmittersRCV001647184 RCV004762091

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

CA403131846

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

CA10547417

rs_782756404

1 SubmittersRCV001647254

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

SNV
Germline

Chr13:23335160

Pathogenic/Likely pathogenic

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia
Condition: not provided
Charcot-Marie-Tooth disease

Criteria Provided
Multiple Submitters
No Conflicts

CA6910728

rs_750732115

9 SubmittersRCV001328754 RCV001386448 RCV001820019 RCV005626399

NM_016035.5(COQ4):c.1A>G (p.Met1Val)

SNV
Germline

Chr9:128322859

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5260357

rs_751764908

2 SubmittersRCV001335789 RCV005040193

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

CA6910259

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
Multiple Submitters
No Conflicts

CA387510751

rs_1883571494

2 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

CA6911661

rs_761960824

2 SubmittersRCV001336181 RCV002546765

NM_006612.6(KIF1C):c.1039C>T (p.Gln347Ter)

SNV
Germline

Chr17:5004874

Pathogenic

Spastic ataxia 2

Criteria Provided
Single Submitter

rs_1974690294

1 SubmittersRCV006531941

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

CA387511419

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

CA387508480

rs_2137561134

2 SubmittersRCV001382083 RCV003399200

NM_014363.6(SACS):c.1038G>A (p.Pro346=)

SNV
Germline

Chr13:23355574

Conflicting classifications of pathogenicity

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia

Criteria Provided
Conflicting Classifications

CA6911984

rs_771344425

2 SubmittersRCV001413062 RCV004815531

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

CA6912058

rs_758653462

2 SubmittersRCV001392388 RCV003136066

NM_014363.6(SACS):c.135G>C (p.Pro45=)

SNV
Germline

Chr13:23375155

Conflicting classifications of pathogenicity

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia

Criteria Provided
Conflicting Classifications

CA246691805

rs_532332781

2 SubmittersRCV001406473 RCV005635156

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

CA387513481

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

CA387517309

rs_1213203489

1 SubmittersRCV001421041

NM_014363.6(SACS):c.10859C>T (p.Thr3620Ile)

SNV
Germline

Chr13:23333017

Conflicting classifications of pathogenicity

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia

Criteria Provided
Conflicting Classifications

CA6910379

rs_543646763

2 SubmittersRCV001427335 RCV005005935

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

SNV
Germline

Chr13:23335540

Conflicting classifications of pathogenicity

Spastic paraplegia
Condition: not provided
Charlevoix-Saguenay spastic ataxia

Criteria Provided
Conflicting Classifications

CA6910782

rs_749327297

3 SubmittersRCV001448702 RCV001507818 RCV001780384

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

CA6909956

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

CA6910587

rs_142867964

2 SubmittersRCV001458158 RCV001579252

NM_014363.6(SACS):c.9778G>C (p.Asp3260His)

SNV
Germline

Chr13:23334098

Conflicting classifications of pathogenicity

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia

Criteria Provided
Conflicting Classifications

CA6910569

rs_148545339

2 SubmittersRCV001485049 RCV005005939

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

CA6911161

rs_191995849

3 SubmittersRCV001481775 RCV001508702 RCV001780391

NM_014363.6(SACS):c.972C>T (p.Asp324=)

SNV
Germline

Chr13:23355640

Conflicting classifications of pathogenicity

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia

Criteria Provided
Conflicting Classifications

CA6911996

rs_546652936

3 SubmittersRCV001496153 RCV001832649

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

SNV
Germline

Chr13:23332627

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6910318

rs_376188585

6 SubmittersRCV001507814 RCV001865926 RCV001785821 RCV001847284

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

SNV
Germline

Chr13:23340239

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6911494

rs_577638741

6 SubmittersRCV001517041 RCV001724329 RCV001847292 RCV001836434 RCV001727865

NM_014363.6(SACS):c.13176C>G (p.Tyr4392Ter)

SNV
Germline

Chr13:23330700

Pathogenic

Condition: not provided
Spastic paraplegia
Charlevoix-Saguenay spastic ataxia

Criteria Provided
Multiple Submitters
No Conflicts

CA387505835

rs_1285760809

4 SubmittersRCV001529804 RCV002568880 RCV004764969

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

CA8319176

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
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6910477

rs_767281295

3 SubmittersRCV001578934 RCV002570818 RCV006279690

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
not specified

Criteria Provided
Conflicting Classifications

CA6910479

rs_765758197

5 SubmittersRCV001663542 RCV001832843 RCV002539647 RCV003163787 RCV005237949

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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6910478

rs_536675517

4 SubmittersRCV001663543 RCV001827567 RCV002538571 RCV006377354

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

SNV
Germline

Chr13:23338246

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6911217

rs_772866081

4 SubmittersRCV001663558 RCV001832845 RCV001847316 RCV002538572

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

SNV
Germline

Chr13:23354798

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

CA387546326

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

CA6910561

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

CA8318856

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

CA387547670

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

CA387513952

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

CA387520022

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

CA387525000

rs_2137616679

1 SubmittersRCV001783709

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

SNV
Germline

Chr13:23334085

Conflicting classifications of pathogenicity

Condition: not provided
Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA6910566

rs_758563983

3 SubmittersRCV001786671 RCV002506825 RCV002541247

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

SNV
Germline

Chr13:23358464

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

CA387552157

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

CA6911467

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

CA6909936

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

CA6911668

rs_142037771

3 SubmittersRCV001847529 RCV002482393 RCV002543362

NM_014363.6(SACS):c.8584A>T (p.Lys2862Ter)

SNV
Germline

Chr13:23335292

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia
Spastic paraplegia
Charlevoix-Saguenay spastic ataxia

Criteria Provided
Multiple Submitters
No Conflicts

CA387516311

rs_2137590717

3 SubmittersRCV001847548 RCV002543366 RCV004815647

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

CA8318850

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

CA8318902

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
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8318922

rs_139663513

3 SubmittersRCV001848494 RCV002034763 RCV004693779

NM_006612.6(KIF1C):c.2674C>T (p.Pro892Ser)

SNV
Germline

Chr17:5023513

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Spastic ataxia 2

Criteria Provided
Conflicting Classifications

CA8319358

rs_561679213

2 SubmittersRCV001848505 RCV005095325

NM_006612.6(KIF1C):c.3234C>T (p.Tyr1078=)

SNV
Germline

Chr17:5024073

Conflicting classifications of pathogenicity

Spastic ataxia 2
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA8319513

rs_771822956

2 SubmittersRCV005095326 RCV001848511

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

SNV
Germline

Chr17:5002824

Conflicting classifications of pathogenicity

Spastic ataxia 2
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA8318648

rs_150944204

2 SubmittersRCV003583200 RCV001848515

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

CA378771125

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

CA378769513

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

CA378769360

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

CA378769320

rs_770310729

1 SubmittersRCV001849695

NM_018109.4(MTPAP):c.1550C>T (p.Pro517Leu)

SNV
Germline

Chr10:30313808

Conflicting classifications of pathogenicity

Condition: not provided
Spastic ataxia 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5458925

rs_140416149

4 SubmittersRCV002012826 RCV005042658 RCV005445548

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

SNV
Germline

Chr13:23340889

Pathogenic/Likely pathogenic

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA387537048

rs_1450257625

4 SubmittersRCV001924150 RCV003471066 RCV004793611

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

CA8318722

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

CA6910231

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

CA387534967

rs_1246013998

4 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

CA6910822

rs_780332615

3 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

CA387519710

rs_2137602382

2 SubmittersRCV001972740 RCV003475241

NM_014231.5(VAMP1):c.97C>T (p.Arg33Ter)

SNV
Germline

Chr12:6466257

Pathogenic/Likely pathogenic

Spastic paraplegia
Spastic ataxia 1

Criteria Provided
Multiple Submitters
No Conflicts

CA383559478

rs_1308616721

2 SubmittersRCV001982906 RCV005409856

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

SNV
Germline

Chr13:23340131

Pathogenic/Likely pathogenic

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA246661944

rs_1027429746

3 SubmittersRCV001934125 RCV003471087 RCV005401875

NM_014363.6(SACS):c.446C>T (p.Ala149Val)

SNV
Germline

Chr13:23365177

Conflicting classifications of pathogenicity

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia

Criteria Provided
Conflicting Classifications

CA6912090

rs_370474035

2 SubmittersRCV001994927 RCV005397208

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

SNV
Germline

Chr16:89553060

Pathogenic/Likely pathogenic

Hereditary spastic paraplegia 7
Spastic ataxia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA397432719

rs_769258044

6 SubmittersRCV002052061 RCV003329432 RCV004729059

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

SNV
Germline

Chr18:12351354

Pathogenic

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

Criteria Provided
Single Submitter

CA401952411

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

CA387552054

rs_2137742889

1 SubmittersRCV002266460

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

SNV
Germline

Chr1:45327295

Conflicting classifications of pathogenicity

Spastic ataxia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA826200

rs_774562729

2 SubmittersRCV002509823 RCV003096072

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

CA378769726

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
Multiple Submitters
No Conflicts

CA387527023

rs_2542273765

2 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

CA387525980

rs_2542268784

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

CA387547449

rs_2542394667

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

CA387527941

rs_1426756976

3 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

CA387546378

rs_983822008

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

CA387548442

rs_2542396806

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

CA387550928

rs_2542402017

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

CA387549933

rs_2542399042

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

CA387548349

rs_2542396639

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

CA387553107

rs_2542458038

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

CA387552034

rs_2542415633

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

CA387545779

rs_2542391731

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

CA401949553

rs_2510223754

3 SubmittersRCV002509896 RCV003146577

NM_014363.6(SACS):c.3912G>T (p.Leu1304Phe)

SNV
Germline

Chr13:23339964

Conflicting classifications of pathogenicity

Spastic paraplegia
Condition: not provided
Charlevoix-Saguenay spastic ataxia

Criteria Provided
Conflicting Classifications

CA6911459

rs_753675356

3 SubmittersRCV003064556 RCV003313301 RCV005010908

NM_014363.6(SACS):c.12603C>A (p.Tyr4201Ter)

SNV
Germline

Chr13:23331273

Pathogenic/Likely pathogenic

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia

Criteria Provided
Multiple Submitters
No Conflicts

CA387507377

rs_770163213

2 SubmittersRCV003062567 RCV004817193

NM_014363.6(SACS):c.2656C>T (p.Gln886Ter)

SNV
Germline

Chr13:23341220

Pathogenic

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia

Criteria Provided
Multiple Submitters
No Conflicts

CA6911650

rs_757894912

3 SubmittersRCV003041183 RCV005010900

NM_016035.5(COQ4):c.613C>T (p.Arg205Ter)

SNV
Germline

Chr9:128332930

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA375023820

rs_776074348

2 SubmittersRCV003093590 RCV005045259

NM_006796.3(AFG3L2):c.2312C>T (p.Ser771Leu)

SNV
Germline

Chr18:12329647

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA296683802

rs_969327635

2 SubmittersRCV003078520 RCV005028213

NM_014363.6(SACS):c.1720C>T (p.Gln574Ter)

SNV
Germline

Chr13:23354892

Pathogenic/Likely pathogenic

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia

Criteria Provided
Multiple Submitters
No Conflicts

CA387547015

rs_2542393826

2 SubmittersRCV002581827 RCV005011008

NM_018109.4(MTPAP):c.1624A>G (p.Thr542Ala)

SNV
Germline

Chr10:30313734

Conflicting classifications of pathogenicity

Condition: not provided
Spastic ataxia 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5458917

rs_756511637

5 SubmittersRCV002610729 RCV005399129 RCV005377302

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

CA387505450

rs_1883396243

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

CA6910343

rs_148925505

2 SubmittersRCV002647476 RCV003485820

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

SNV
Germline

Chr17:5001366

Pathogenic

Spastic ataxia 2

Criteria Provided
Single Submitter

CA8318505

rs_774939814

1 SubmittersRCV003104636

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

SNV
Germline

Chr17:5002805

Conflicting classifications of pathogenicity

Spastic ataxia 2
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8318643

rs_142513387

3 SubmittersRCV002590507 RCV003456535 RCV003167471

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

CA387511169

rs_2542178338

3 SubmittersRCV002756833 RCV003134495

NM_014363.6(SACS):c.2419A>G (p.Ile807Val)

SNV
Germline

Chr13:23341457

Conflicting classifications of pathogenicity

Spastic paraplegia
Inborn genetic diseases
Charlevoix-Saguenay spastic ataxia

Criteria Provided
Conflicting Classifications

CA6911694

rs_779415925

3 SubmittersRCV002900206 RCV005473257 RCV005399005

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

CA287185849

rs_904984161

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

CA6911445

rs_747675676

2 SubmittersRCV002932929 RCV003138399

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

SNV
Germline

Chr13:23333750

Conflicting classifications of pathogenicity

Spastic paraplegia
Inborn genetic diseases
Charlevoix-Saguenay spastic ataxia

Criteria Provided
Conflicting Classifications

CA6910496

rs_761454766

3 SubmittersRCV002952956 RCV004067273 RCV003138408

NM_014363.6(SACS):c.7148G>A (p.Arg2383His)

SNV
Germline

Chr13:23336728

Conflicting classifications of pathogenicity

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia

Criteria Provided
Conflicting Classifications

CA6910965

rs_751713432

2 SubmittersRCV002985226 RCV005010844

NM_014363.6(SACS):c.24G>A (p.Trp8Ter)

SNV
Germline

Chr13:23375266

Pathogenic/Likely pathogenic

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia

Criteria Provided
Multiple Submitters
No Conflicts

CA387554822

rs_2542505703

2 SubmittersRCV002994432 RCV005010854

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

CA387505455

rs_2542139382

3 SubmittersRCV002790004 RCV004017968

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

SNV
Germline

Chr17:5020873

Pathogenic/Likely pathogenic

Spastic ataxia 2

Criteria Provided
Multiple Submitters
No Conflicts

CA397310918

rs_1456471745

2 SubmittersRCV002790018

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

SNV
Germline

Chr17:5000287

Likely pathogenic

Spastic ataxia 2

Criteria Provided
Single Submitter

CA397342270

rs_2508130127

1 SubmittersRCV003152962

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

SNV
Germline

Chr13:23353784

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

CA387542776

rs_2542384410

1 SubmittersRCV003227588

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

SNV
Germline

Chr13:23355786

Pathogenic/Likely pathogenic

Condition: not provided
Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA387551057

rs_1438645077

5 SubmittersRCV003314858 RCV003444027 RCV003588887

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

SNV
Germline

Chr13:23336770

Pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

CA387520031

rs_2542239307

1 SubmittersRCV003329139

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

SNV
Germline

Chr17:5002769

Likely pathogenic

Spastic ataxia 2

Criteria Provided
Single Submitter

CA287212797

rs_915801478

1 SubmittersRCV003334467

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

SNV
Germline

Chr13:23330859

Pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

CA387506192

rs_1223368199

1 SubmittersRCV003336692

NM_006796.3(AFG3L2):c.1714G>A (p.Ala572Thr)

SNV
Germline

Chr18:12344197

Conflicting classifications of pathogenicity

Spastic ataxia 5
Optic atrophy 12
Glycogen storage disease type III

Criteria Provided
Conflicting Classifications

CA8896420

rs_562861748

3 SubmittersRCV003447707 RCV003988116 RCV004527457

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

SNV
Germline

Chr13:23334043

Likely pathogenic

Charlevoix-Saguenay spastic ataxia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA387513554

rs_2542194050

2 SubmittersRCV003466310 RCV004810008

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

SNV
Unknown

Chr13:23333231

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

CA387511741

rs_2542182117

1 SubmittersRCV003466311

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

SNV
Unknown

Chr13:23371167

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

CA387554000

rs_2542474905

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

CA387525498

rs_2542265827

1 SubmittersRCV003466313

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

SNV
Germline

Chr13:23341373

Pathogenic/Likely pathogenic

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA387538889

rs_2542312385

2 SubmittersRCV003466314 RCV005100221

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

SNV
Unknown

Chr13:23355450

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

CA387550005

rs_2542399227

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

CA387554345

rs_2542502077

1 SubmittersRCV003466321

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

SNV
Germline

Chr13:23339116

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Conflicting Classifications

CA387527790

rs_1868949196

3 SubmittersRCV003466323 RCV006473248

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

CA387549689

rs_777556535

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

CA387529022

rs_2542281828

1 SubmittersRCV003466327

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

SNV
Germline

Chr13:23375118

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Multiple Submitters
No Conflicts

CA387554267

rs_1871663012

2 SubmittersRCV003466330

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

SNV
Unknown

Chr13:23341585

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

CA387539588

rs_2542315842

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
not specified

Criteria Provided
Conflicting Classifications

CA6911830

rs_768855225

3 SubmittersRCV003466338 RCV003588923 RCV004783067

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

SNV
Unknown

Chr13:23330557

Pathogenic

Charlevoix-Saguenay spastic ataxia
Uterine corpus endometrial carcinoma

Criteria Provided
Single Submitter

CA387505519

rs_973719913

2 SubmittersRCV003466343 RCV005927721

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

CA387515170

rs_760685626

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

CA387507889

rs_1326948780

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

CA387507878

rs_2542156044

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

CA387527514

rs_1360415486

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

CA387525747

rs_2542267129

1 SubmittersRCV003466362

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

SNV
Germline

Chr13:23338922

Pathogenic/Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Multiple Submitters
No Conflicts

CA387527030

rs_2542273834

2 SubmittersRCV003466365

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

SNV
Unknown

Chr13:23371098

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

CA387553743

rs_2542473988

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

CA387517448

rs_2542223665

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

CA387552671

rs_2542442602

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

CA387536722

rs_2542300877

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

CA387529058

rs_2542281963

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

CA387542811

rs_1289055030

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

CA387533202

rs_2542288376

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

CA387508389

rs_2542159296

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

CA387538536

rs_2542310012

1 SubmittersRCV003472587

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

SNV
Germline

Chr9:128332184

Pathogenic

Spastic ataxia 10, autosomal recessive

No Assertion Criteria Provided

CA5260574

rs_762170679

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

CA375024711

rs_1232690058

1 SubmittersRCV003482896

NM_014363.6(SACS):c.4744G>C (p.Asp1582His)

SNV
Germline

Chr13:23339132

Likely pathogenic

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia

Criteria Provided
Multiple Submitters
No Conflicts

CA387527869

rs_1160357920

2 SubmittersRCV003588987 RCV004765001

NM_006612.6(KIF1C):c.2048G>A (p.Arg683His)

SNV
Germline

Chr17:5022129

Conflicting classifications of pathogenicity

Spastic ataxia 2
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA287185746

rs_1002320182

3 SubmittersRCV003583350 RCV005587430 RCV006276348

NM_014363.6(SACS):c.3832G>A (p.Val1278Ile)

SNV
Germline

Chr13:23340044

Conflicting classifications of pathogenicity

Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA387533494

rs_1436928164

3 SubmittersRCV003590681 RCV005608987 RCV005485420

NM_014363.6(SACS):c.3200A>G (p.Asn1067Ser)

SNV
Germline

Chr13:23340676

Conflicting classifications of pathogenicity

Spastic paraplegia
Condition: not provided
Charlevoix-Saguenay spastic ataxia

Criteria Provided
Conflicting Classifications

CA6911554

rs_371219067

3 SubmittersRCV003588193 RCV006454438 RCV005013017

NM_014363.6(SACS):c.11665C>T (p.Gln3889Ter)

SNV
Germline

Chr13:23332211

Pathogenic/Likely pathogenic

Charlevoix-Saguenay spastic ataxia
Spastic paraplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA6910244

rs_779073874

2 SubmittersRCV005409946 RCV003591071

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

SNV
Germline

Chr17:5007544

Likely pathogenic

Spastic ataxia 2

Criteria Provided
Single Submitter

CA397349797

rs_2508163426

1 SubmittersRCV003744499

NM_014363.6(SACS):c.11339T>C (p.Leu3780Pro)

SNV
Germline

Chr13:23332537

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

1 SubmittersRCV004765031

NM_014363.6(SACS):c.563G>A (p.Gly188Glu)

SNV
Germline

Chr13:23358376

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

1 SubmittersRCV004765059

NM_014363.6(SACS):c.4569G>A (p.Trp1523Ter)

SNV
Germline

Chr13:23339307

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

1 SubmittersRCV004765060

NM_014363.6(SACS):c.4060C>T (p.Gln1354Ter)

SNV
Germline

Chr13:23339816

Pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

1 SubmittersRCV004765064

NM_014363.6(SACS):c.4108C>T (p.Gln1370Ter)

SNV
Germline

Chr13:23339768

Pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

1 SubmittersRCV004765080

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

SNV
Germline

Chr13:23338249

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

rs_2542264093

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

rs_2542136084

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

rs_2137566624

1 SubmittersRCV004574816

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

SNV
Unknown

Chr13:23335914

Pathogenic/Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Multiple Submitters
No Conflicts

rs_777875035

2 SubmittersRCV004573533

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

SNV
Unknown

Chr13:23358440

Likely pathogenic

Papillary renal cell carcinoma type 1
Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

rs_2542415812

2 SubmittersRCV005939489 RCV004573534

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

SNV
Unknown

Chr13:23355077

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

rs_2542395776

1 SubmittersRCV004573539

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

SNV
Germline

Chr13:23331422

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Multiple Submitters
No Conflicts

rs_2137558442

2 SubmittersRCV004573542

NM_014363.6(SACS):c.3769G>T (p.Gly1257Ter)

SNV
Germline

Chr13:23340107

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

1 SubmittersRCV004818481

NM_014363.6(SACS):c.1667T>C (p.Leu556Pro)

SNV
Germline

Chr13:23354945

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

1 SubmittersRCV004818504

NM_014363.6(SACS):c.12992G>A (p.Arg4331Gln)

SNV
Germline

Chr13:23330884

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

1 SubmittersRCV004818506

NM_014363.6(SACS):c.8691G>A (p.Trp2897Ter)

SNV
Germline

Chr13:23335185

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

1 SubmittersRCV004818516

NM_014363.6(SACS):c.2971T>C (p.Cys991Arg)

SNV
Germline

Chr13:23340905

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

1 SubmittersRCV004818519

NM_014363.6(SACS):c.457+1G>A

SNV
Germline

Chr13:23365165

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

1 SubmittersRCV004818521

NM_014363.6(SACS):c.2093+1G>A

SNV
Germline

Chr13:23354518

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

1 SubmittersRCV004818523

NM_014363.6(SACS):c.3932T>A (p.Met1311Lys)

SNV
Germline

Chr13:23339944

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

1 SubmittersRCV004818529

NM_014363.6(SACS):c.106G>T (p.Glu36Ter)

SNV
Germline

Chr13:23375184

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

1 SubmittersRCV004818530

NM_014363.6(SACS):c.5920G>T (p.Glu1974Ter)

SNV
Germline

Chr13:23337956

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

1 SubmittersRCV004818532

NM_014363.6(SACS):c.13066C>T (p.Gln4356Ter)

SNV
Germline

Chr13:23330810

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

1 SubmittersRCV004818537

NM_014363.6(SACS):c.13658C>T (p.Thr4553Ile)

SNV
Germline

Chr13:23330218

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

1 SubmittersRCV004596713

NM_006612.6(KIF1C):c.1020-2A>G

SNV
Germline

Chr17:5004853

Likely pathogenic

Spastic ataxia 2

No Assertion Criteria Provided

1 SubmittersRCV004767604

NM_014363.6(SACS):c.4645G>T (p.Glu1549Ter)

SNV
Germline

Chr13:23339231

Pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

1 SubmittersRCV004783401

NM_006612.6(KIF1C):c.1166-2A>T

SNV
Germline

Chr17:5006913

Likely pathogenic

Spastic ataxia 2

Criteria Provided
Single Submitter

1 SubmittersRCV004783675

NM_014363.6(SACS):c.11104A>G (p.Thr3702Ala)

SNV
Germline

Chr13:23332772

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

1 SubmittersRCV005005597

NM_014363.6(SACS):c.10961T>A (p.Leu3654Ter)

SNV
Germline

Chr13:23332915

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

1 SubmittersRCV005013393

NM_014363.6(SACS):c.10470T>G (p.Tyr3490Ter)

SNV
Germline

Chr13:23333406

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

1 SubmittersRCV005013394

NM_014363.6(SACS):c.7673C>T (p.Ala2558Val)

SNV
Germline

Chr13:23336203

Conflicting classifications of pathogenicity

Charlevoix-Saguenay spastic ataxia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005013400 RCV005485660

NM_014363.6(SACS):c.6045C>A (p.Tyr2015Ter)

SNV
Germline

Chr13:23337831

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

1 SubmittersRCV005013404

NM_014363.6(SACS):c.5454G>A (p.Trp1818Ter)

SNV
Germline

Chr13:23338422

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

1 SubmittersRCV005013406

NM_014363.6(SACS):c.4568G>A (p.Trp1523Ter)

SNV
Germline

Chr13:23339308

Pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

1 SubmittersRCV005013407

NM_014363.6(SACS):c.3607G>T (p.Glu1203Ter)

SNV
Germline

Chr13:23340269

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

1 SubmittersRCV005013408

NM_014363.6(SACS):c.2334G>A (p.Trp778Ter)

SNV
Germline

Chr13:23341542

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

1 SubmittersRCV005013413

NM_014363.6(SACS):c.2078C>A (p.Ser693Ter)

SNV
Germline

Chr13:23354534

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

1 SubmittersRCV005013414

NM_014363.6(SACS):c.715G>T (p.Glu239Ter)

SNV
Germline

Chr13:23355897

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

1 SubmittersRCV005013418

NM_014363.6(SACS):c.454C>T (p.Gln152Ter)

SNV
Germline

Chr13:23365169

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

1 SubmittersRCV005013419

NM_014363.6(SACS):c.103A>T (p.Lys35Ter)

SNV
Germline

Chr13:23375187

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

1 SubmittersRCV005013423

NM_016035.5(COQ4):c.627-1G>A

SNV
Germline

Chr9:128333473

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005043844

NM_006612.6(KIF1C):c.1078G>A (p.Ala360Thr)

SNV
Germline

Chr17:5004913

Conflicting classifications of pathogenicity

Spastic ataxia 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005206787 RCV005587680

NM_014363.6(SACS):c.9175A>T (p.Lys3059Ter)

SNV
Germline

Chr13:23334701

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

1 SubmittersRCV005208319

NM_014363.6(SACS):c.10943T>C (p.Leu3648Pro)

SNV
Germline

Chr13:23332933

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

1 SubmittersRCV005233211

NM_014363.6(SACS):c.8833C>T (p.Gln2945Ter)

SNV
Germline

Chr13:23335043

Pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

1 SubmittersRCV005238571

NM_014363.6(SACS):c.3831G>A (p.Trp1277Ter)

SNV
Germline

Chr13:23340045

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

1 SubmittersRCV005252172

NM_014363.6(SACS):c.506G>A (p.Trp169Ter)

SNV
Germline

Chr13:23358433

Pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

1 SubmittersRCV005252181

NM_138395.4(MARS2):c.837G>A (p.Trp279Ter)

SNV
Germline

Chr2:197706242

Likely pathogenic

Spastic ataxia 3

Criteria Provided
Single Submitter

1 SubmittersRCV005362101

NM_014363.6(SACS):c.821C>T (p.Pro274Leu)

SNV
Germline

Chr13:23355791

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

1 SubmittersRCV005409272

NM_014363.6(SACS):c.2093+2T>A

SNV
Germline

Chr13:23354517

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

1 SubmittersRCV005410300

NM_006612.6(KIF1C):c.182C>A (p.Ser61Ter)

SNV
Germline

Chr17:5000847

Pathogenic

Spastic ataxia 2

Criteria Provided
Single Submitter

1 SubmittersRCV005411196

NM_006000.3(TUBA4A):c.517C>T (p.Pro173Ser)

SNV
Germline

Chr2:219251182

Pathogenic

Spastic ataxia 11, autosomal dominant

No Assertion Criteria Provided

1 SubmittersRCV005416248

NM_006000.3(TUBA4A):c.518C>G (p.Pro173Arg)

SNV
Germline

Chr2:219251181

Pathogenic

Spastic ataxia 11, autosomal dominant

No Assertion Criteria Provided

1 SubmittersRCV005416249

NM_014363.6(SACS):c.11290G>T (p.Glu3764Ter)

SNV
Germline

Chr13:23332586

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

No Assertion Criteria Provided

1 SubmittersRCV005612731

NM_014363.6(SACS):c.11546C>G (p.Ser3849Ter)

SNV
Germline

Chr13:23332330

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

No Assertion Criteria Provided

1 SubmittersRCV005609738

NM_014363.6(SACS):c.12697G>T (p.Glu4233Ter)

SNV
Germline

Chr13:23331179

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

No Assertion Criteria Provided

1 SubmittersRCV005609741

NM_014363.6(SACS):c.1663G>T (p.Glu555Ter)

SNV
Germline

Chr13:23354949

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

No Assertion Criteria Provided

1 SubmittersRCV005609781

NM_014363.6(SACS):c.11953G>T (p.Glu3985Ter)

SNV
Germline

Chr13:23331923

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

No Assertion Criteria Provided

1 SubmittersRCV006444423

NM_014363.6(SACS):c.13288C>T (p.Gln4430Ter)

SNV
Germline

Chr13:23330588

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

No Assertion Criteria Provided

1 SubmittersRCV006444440

NM_014363.6(SACS):c.4101T>G (p.Tyr1367Ter)

SNV
Unknown

Chr13:23339775

Pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

1 SubmittersRCV005637795

NM_014363.6(SACS):c.4622T>G (p.Leu1541Ter)

SNV
Unknown

Chr13:23339254

Pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

1 SubmittersRCV005637796

NM_006612.6(KIF1C):c.64C>T (p.Gln22Ter)

SNV
Germline

Chr17:5000310

Likely pathogenic

Spastic ataxia 2

Criteria Provided
Single Submitter

1 SubmittersRCV005865032

NM_006796.3(AFG3L2):c.1026+2T>G

SNV
Germline

Chr18:12358668

Likely pathogenic

Spastic ataxia 5

Criteria Provided
Single Submitter

1 SubmittersRCV005884502

NM_006612.6(KIF1C):c.941-2A>G

SNV
Unknown

Chr17:5004565

Likely pathogenic

Spastic ataxia 2

Criteria Provided
Single Submitter

1 SubmittersRCV006249462

NM_014363.6(SACS):c.7873G>T (p.Gly2625Ter)

SNV
Germline

Chr13:23336003

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

1 SubmittersRCV006255114

NM_014363.6(SACS):c.12976A>G (p.Lys4326Glu)

SNV
Germline

Chr13:23330900

Likely pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

1 SubmittersRCV006267588

NM_014363.6(SACS):c.10201C>T (p.Gln3401Ter)

SNV
Germline

Chr13:23333675

Pathogenic

Charlevoix-Saguenay spastic ataxia

Criteria Provided
Single Submitter

1 SubmittersRCV006267797

NM_006612.6(KIF1C):c.865-1G>A

SNV
Germline

Chr17:5003997

Likely pathogenic

Spastic ataxia 2

Criteria Provided
Single Submitter

1 SubmittersRCV006524616