MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO

Disease Browser
Parent Node: Muscle Spasticity (D009128)
Parent Node: Spinocerebellar Ataxias (D020754)
..Starting node ..Spastic ataxia Charlevoix-Saguenay type (C536787)
Child Nodes:
Sister Nodes:
..Anemia, sideroblastic spinocerebellar ataxia (C536358)
..Ataxia Telangiectasia (D001260) 6
..Chorioretinal Dystrophy, Spinocerebellar Ataxia, and Hypogonadotropic Hypogonadism (C565850)
..Gemignani syndrome (C537678)
..Machado-Joseph Disease (D017827) 1
..MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE) (OMIM:271245) L: 00036;
..Spastic Ataxia (C564815)
..Spastic ataxia Charlevoix-Saguenay type (C536787)
..Spinocerebellar Ataxia 10 (C566874)
..Spinocerebellar Ataxia 11 (C565772)
..Spinocerebellar Ataxia 12 (C565790)
..Spinocerebellar ataxia 13 (C537195)
..Spinocerebellar ataxia 14 (C537196)
..Spinocerebellar Ataxia 15 (C564685)
..Spinocerebellar Ataxia 17 (C564616)
..Spinocerebellar ataxia 20 (C537199)
..Spinocerebellar ataxia 25 (C537202)
..Spinocerebellar ataxia 26 (C537203)
..Spinocerebellar ataxia 28 (C537205) L: 00498;
..Spinocerebellar ataxia 30 (C575214)
..Spinocerebellar Ataxia 31 (C566146)
..Spinocerebellar Ataxia And Plaque-Like Deposits (C566671)
..Spinocerebellar Ataxia with Dysmorphism (C564802)
..Spinocerebellar Ataxia with Epilepsy (C564395)
..Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy (C566669)
..Spinocerebellar ataxia, autosomal recessive 1 (C537308)
..Spinocerebellar Ataxia, Autosomal Recessive 7 (C563753)
..Spinocerebellar Ataxia, Autosomal Recessive 8 (C565188)
..Spinocerebellar Ataxia, Autosomal Recessive 9 (C567436)
..Spinocerebellar Ataxia, X-Linked 1 (C563134)
..Spinocerebellar Ataxia, X-Linked 5 (C567478)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

11365

Name:

Spastic ataxia Charlevoix-Saguenay type

Definition:

Alternative IDs:

DO:DOID:0050946|OMIM:270550

ParentIDs:

MESH:D009128|MESH:D020754

TreeNumbers:

C05.651.512/C536787 |C10.228.140.252.190.530/C536787 |C10.228.140.252.700.700/C536787 |C10.228.854.787.875/C536787 |C10.574.500.825.700/C536787 |C10.597.350.090.500.530/C536787 |C10.597.613.550.550/C536787 |C16.320.400.780.875/C536787 |C23.888.592.608.550.550/C5

Synonyms:

Slim Mappings:

Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease|Signs and symptoms

Reference:

MedGen: C536787
MeSH: C536787
OMIM: 270550;
MSeqDR :
Genes: SACS;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003593	Infantile onset
3	HP:0003438	Absent Achilles reflex
4	HP:0003487	Babinski sign
5	HP:0006855	Cerebellar vermis atrophy
6	HP:0003431	Decreased motor nerve conduction velocity
7	HP:0003387	Decreased number of large peripheral myelinated nerve fibers
8	HP:0003448	Decreased sensory nerve conduction velocity
9	HP:0003693	Distal amyotrophy
10	HP:0002460	Distal muscle weakness NAMDC: Muscle weakness: distal
11	HP:0002936	Distal sensory impairment
12	HP:0001260	Dysarthria NAMDC: Dysarthria
13	HP:0001310	Dysmetria
14	HP:0002527	Falls
15	HP:0001765	Hammertoe
16	HP:0007922	Hypermyelinated retinal nerve fibers
17	HP:0001347	Hyperreflexia NAMDC: Hyperreactive reflexes (incl. Babinski sign, Hoffman sign)
18	HP:0007772	Impaired smooth pursuit
19	HP:0002166	Impaired vibration sensation in the lower limbs
20	HP:0001249	Intellectual disability
21	HP:0007001	Loss of Purkinje cells in the cerebellar vermis
22	HP:0000639	Nystagmus
23	HP:0001761	Pes cavus
24	HP:0007240	Progressive gait ataxia
25	HP:0007221	Progressive truncal ataxia
26	HP:0002168	Scanning speech
27	HP:0002497	Spastic ataxia
28	HP:0001257	Spasticity NAMDC: Spasticity
29	HP:0006150	Swan neck-like deformities of the fingers
30	HP:0000012	Urinary urgency

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_014363.6(SACS):c.*1292A>T	26278	SACS	Uncertain significance	rs147476665	RCV000289553;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23902983	23902983	NC_000013.10:g.23902983T>A	ClinGen:CA10639209	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.*1200A>G	26278	SACS	Uncertain significance	rs558041482	RCV000346825;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23903075	23903075	13:g.23903075T>C	ClinGen:CA10639211	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.*1162C>G	26278	SACS	Uncertain significance	rs1883303203	RCV001113250;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23903113	23903113	13:g.23903113G>C	-
NM_014363.6(SACS):c.*1142G>A	26278	SACS	Uncertain significance	rs1883304820	RCV001113251;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23903133	23903133	13:g.23903133C>T	-
NM_014363.6(SACS):c.*1108G>A	26278	SACS	Uncertain significance	rs139956143	RCV001113252;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23903167	23903167	13:g.23903167C>T	-
NM_014363.6(SACS):c.*1039C>T	26278	SACS	Uncertain significance	rs1593117762	RCV001113253;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23903236	23903236	13:g.23903236G>A	-
NM_014363.6(SACS):c.*942A>G	26278	SACS	Uncertain significance	rs886050068	RCV000312018;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23903333	23903333	13:g.23903333T>C	ClinGen:CA10643102	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.*919T>C	26278	SACS	Uncertain significance	rs1883315768	RCV001114617;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23903356	23903356	13:g.23903356A>G	-
NM_014363.6(SACS):c.*916T>A	26278	SACS	Uncertain significance	rs75389729	RCV001114618;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23903359	23903359	13:g.23903359A>T	-
NM_014363.6(SACS):c.*882A>C	26278	SACS	Uncertain significance	rs886050069	RCV000350556;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23903393	23903393	13:g.23903393T>G	ClinGen:CA10643104	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.*821A>G	26278	SACS	Uncertain significance	rs145184122	RCV001114619\|RCV001847160;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685	13	23903454	23903454	13:g.23903454T>C	-
NM_014363.6(SACS):c.*777T>C	26278	SACS	Uncertain significance	rs77645021	RCV001114620;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23903498	23903498	13:g.23903498A>G	-
NM_014363.6(SACS):c.*716T>G	26278	SACS	Uncertain significance	rs1883326909	RCV001114621;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23903559	23903559	13:g.23903559A>C	-
NM_014363.6(SACS):c.*711A>G	26278	SACS	Uncertain significance	rs368233436	RCV001114622;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23903564	23903564	13:g.23903564T>C	-
NM_014363.6(SACS):c.*625T>A	26278	SACS	Uncertain significance	rs186505479	RCV001108988;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23903650	23903650	13:g.23903650A>T	-
NM_014363.6(SACS):c.*569G>A	26278	SACS	Uncertain significance	rs554938605	RCV001108989;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23903706	23903706	13:g.23903706C>T	-
NM_014363.6(SACS):c.*461G>A	26278	SACS	Uncertain significance	rs1003496096	RCV001108990;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23903814	23903814	13:g.23903814C>T	-
NM_014363.6(SACS):c.*394G>A	26278	SACS	Uncertain significance	rs956360764	RCV001108991;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23903881	23903881	13:g.23903881C>T	-
NM_014363.6(SACS):c.*307A>G	26278	SACS	Uncertain significance	rs576860445	RCV000353517;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23903968	23903968	13:g.23903968T>C	ClinGen:CA10644005	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.*222T>C	26278	SACS	Uncertain significance	rs577703833	RCV001111338;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23904053	23904053	13:g.23904053A>G	-
NM_014363.6(SACS):c.*218T>C	26278	SACS	Uncertain significance	rs907847986	RCV001111339;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23904057	23904057	13:g.23904057A>G	-
NM_014363.6(SACS):c.*20del	26278	SACS	Likely benign	rs143617437	RCV000669879\|RCV001571217;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MedGen:CN517202	13	23904255	23904255	13:g.23904255_23904255del	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.13738_13739del (p.Ter4580LysextTer?)	26278	SACS	Uncertain significance	rs776682685	RCV000599242\|RCV000822418\|RCV001274914;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23904276	23904277	NC_000013.10:g.23904277AC[1]	ClinGen:CA6909924
NM_014363.6(SACS):c.13717A>C (p.Asn4573His)	26278	SACS	Conflicting interpretations of pathogenicity	rs34382952	RCV000254363\|RCV000488235\|RCV000515968\|RCV000674768\|RCV001082378;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:H	13	23904298	23904298	13:g.23904298T>G	ClinGen:CA239310	C0037773 Hereditary spastic paraplegia;
NM_014363.6(SACS):c.13694C>A (p.Ala4565Asp)	26278	SACS	Conflicting interpretations of pathogenicity	rs375722463	RCV001207368\|RCV001833823;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23904321	23904321	13:g.23904321G>T	-
NM_014363.6(SACS):c.13645A>G (p.Asn4549Asp)	26278	SACS	Uncertain significance	rs1178912631	RCV000669953;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23904370	23904370	13:g.23904370T>C	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.13614C>G (p.Tyr4538Ter)	26278	SACS	Uncertain significance	rs927804920	RCV000671783;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23904401	23904401	13:g.23904401G>C	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.13614C>A (p.Tyr4538Ter)	26278	SACS	Pathogenic	rs927804920	RCV001045016\|RCV001832428;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23904401	23904401	13:g.23904401G>T	-
NM_014363.6(SACS):c.13588G>T (p.Gly4530Cys)	26278	SACS	Uncertain significance	-1	RCV001526398;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23904427	23904427	23904427	-
NM_014363.6(SACS):c.13574C>G (p.Thr4525Arg)	26278	SACS	Uncertain significance	rs750412600	RCV000527900\|RCV001834755;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23904441	23904441	NC_000013.10:g.23904441G>C	ClinGen:CA6909943	C0037772 Spastic paraplegia;
NM_014363.6(SACS):c.13563T>C (p.Asn4521=)	26278	SACS	Conflicting interpretations of pathogenicity	rs766497653	RCV001111340\|RCV001490674;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23904452	23904452	13:g.23904452A>G	-
NM_014363.6(SACS):c.13540C>T (p.Gln4514Ter)	26278	SACS	Uncertain significance	rs1555249133	RCV000674771;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23904475	23904475	13:g.23904475G>A	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.13538G>A (p.Ser4513Asn)	26278	SACS	Conflicting interpretations of pathogenicity	rs138328181	RCV000413289\|RCV001274915\|RCV002523949;	N	MedGen:CN169374\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23904477	23904477	13:g.23904477C>T	ClinGen:CA6909946	CN169374 not specified;
NM_014363.6(SACS):c.13527dup (p.Glu4510fs)	26278	SACS	Pathogenic	rs797045936	RCV000194514;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23904487	23904488	NC_000013.10:g.23904488dup	ClinGen:CA277338	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.13512A>G (p.Ala4504=)	26278	SACS	Uncertain significance	rs886050070	RCV000261019;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23904503	23904503	13:g.23904503T>C	ClinGen:CA10644012	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.13509T>G (p.Thr4503=)	26278	SACS	Likely benign	rs745361567	RCV001277474\|RCV001495788;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23904506	23904506	13:g.23904506A>C	-
NM_014363.6(SACS):c.13506A>G (p.Pro4502=)	26278	SACS	Likely benign	rs1593119067	RCV000928492\|RCV001272177;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23904509	23904509	13:g.23904509T>C	-
NM_014363.6(SACS):c.13476G>C (p.Val4492=)	26278	SACS	Conflicting interpretations of pathogenicity	-1	RCV001475170\|RCV001578939;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23904539	23904539	23904539	-
NM_014363.6(SACS):c.13454T>C (p.Leu4485Ser)	26278	SACS	Pathogenic	rs1566054340	RCV000761525;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23904561	23904561	NC_000013.10:g.23904561A>G	-
NM_014363.6(SACS):c.13409A>G (p.Asn4470Ser)	26278	SACS	Conflicting interpretations of pathogenicity	rs757326594	RCV001113352\|RCV002558130;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23904606	23904606	13:g.23904606T>C	-
NM_014363.6(SACS):c.13405G>C (p.Ala4469Pro)	26278	SACS	Likely pathogenic	rs745961541	RCV000672222;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23904610	23904610	13:g.23904610C>G	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.13393del (p.Leu4465fs)	26278	SACS	Uncertain significance	rs1555249211	RCV000669780;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23904622	23904622	13:g.23904622_23904622del	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.13360del (p.Ala4454fs)	26278	SACS	Uncertain significance	rs1555249223	RCV000674757;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23904655	23904655	13:g.23904655_23904655del	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.13350G>A (p.Trp4450Ter)	26278	SACS	Uncertain significance	-1	RCV002790004;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23904665	23904665	NC_000013.10:g.23904665C>T	-
NM_014363.6(SACS):c.13349G>A (p.Trp4450Ter)	26278	SACS	Uncertain significance	rs1555249236	RCV000667694;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23904666	23904666	13:g.23904666C>T	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.13344C>T (p.Arg4448=)	26278	SACS	Conflicting interpretations of pathogenicity	rs200157359	RCV001113353\|RCV001514077;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23904671	23904671	13:g.23904671G>A	-
NM_014363.6(SACS):c.13320G>A (p.Ser4440=)	26278	SACS	Likely benign	rs759847087	RCV001277475\|RCV001880227;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23904695	23904695	13:g.23904695C>T	-
NM_014363.6(SACS):c.13283dup (p.Tyr4428Ter)	26278	SACS	Likely pathogenic	rs1057517123	RCV000409320\|RCV001218630;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23904731	23904732	13:g.23904731_23904732insT	ClinGen:CA16041596	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.13284C>A (p.Tyr4428Ter)	26278	SACS	Likely pathogenic	rs753277514	RCV000670810;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23904731	23904731	13:g.23904731G>T	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.13284C>T (p.Tyr4428=)	26278	SACS	Likely benign	rs753277514	RCV000906846\|RCV001272178;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23904731	23904731	13:g.23904731G>A	-
NM_014363.6(SACS):c.13282T>G (p.Tyr4428Asp)	26278	SACS	Uncertain significance	rs886050071	RCV000299853\|RCV002472983;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MedGen:CN517202	13	23904733	23904733	13:g.23904733A>C	ClinGen:CA10644016	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.13281T>A (p.Thr4427=)	26278	SACS	Uncertain significance	rs1360709632	RCV001113354;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23904734	23904734	13:g.23904734A>T	-
NM_014363.6(SACS):c.13276C>T (p.Gln4426Ter)	26278	SACS	Likely pathogenic	rs1555249276	RCV000673080;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23904739	23904739	13:g.23904739G>A	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.13273G>A (p.Gly4425Arg)	26278	SACS	Conflicting interpretations of pathogenicity	rs754693143	RCV000992778\|RCV001832305\|RCV002549808;	N	MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23904742	23904742	13:g.23904742C>T	-
NM_014363.6(SACS):c.13272C>T (p.Ala4424=)	26278	SACS	Benign	rs567495567	RCV000862462\|RCV001272179;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23904743	23904743	13:g.23904743G>A	-
NM_014363.6(SACS):c.13269A>T (p.Ser4423=)	26278	SACS	Conflicting interpretations of pathogenicity	rs1180908312	RCV000517276\|RCV001430724\|RCV001783016;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23904746	23904746	NC_000013.10:g.23904746T>A	ClinGen:CA483157685	CN169374 not specified;
NM_014363.6(SACS):c.13225A>G (p.Lys4409Glu)	26278	SACS	Uncertain significance	-1	RCV001360855\|RCV001826003;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23904790	23904790	23904790	-
NM_014363.6(SACS):c.13178_13185dup (p.Arg4396fs)	26278	SACS	Likely pathogenic	rs1555249326	RCV000672108;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23904829	23904830	13:g.23904829_23904830insCTGAAATG	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.13132C>T (p.Arg4378Ter)	26278	SACS	Pathogenic/Likely pathogenic	rs747868017	RCV000410263\|RCV001865265;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23904883	23904883	13:g.23904883G>A	ClinGen:CA16041597	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.13120_13121del (p.Arg4374fs)	26278	SACS	Likely pathogenic	rs1555249338	RCV000666183;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23904894	23904895	13:g.23904894_23904895del	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.13119C>T (p.Asp4373=)	26278	SACS	Likely benign	rs368124828	RCV000869013\|RCV001835993;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23904896	23904896	13:g.23904896G>A	-
NM_014363.6(SACS):c.13106A>G (p.Asp4369Gly)	26278	SACS	Conflicting interpretations of pathogenicity	rs770895110	RCV000688293\|RCV001830494\|RCV002272330;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MedGen:CN517202	13	23904909	23904909	NC_000013.10:g.23904909T>C	-	C0037772 Spastic paraplegia;
NM_014363.6(SACS):c.13039A>G (p.Ile4347Val)	26278	SACS	Conflicting interpretations of pathogenicity	rs200939906	RCV000516513\|RCV001412104\|RCV001783015;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23904976	23904976	NC_000013.10:g.23904976T>C	ClinGen:CA6910031	CN169374 not specified;
NM_014363.6(SACS):c.13036G>A (p.Asp4346Asn)	26278	SACS	Conflicting interpretations of pathogenicity	rs372359781	RCV000337604\|RCV000765117\|RCV002522028;	N	MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23904979	23904979	13:g.23904979C>T	ClinGen:CA6910032	CN169374 not specified;
NM_014363.6(SACS):c.13031A>G (p.Asn4344Ser)	26278	SACS	Uncertain significance	rs886050072	RCV000357075;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23904984	23904984	13:g.23904984T>C	ClinGen:CA10644017	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.13027G>A (p.Glu4343Lys)	26278	SACS	Conflicting interpretations of pathogenicity	rs749383532	RCV000593745\|RCV000671806\|RCV002232237\|RCV002532677;	N	MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MedGen:CN169374\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23904988	23904988	13:g.23904988C>T	ClinGen:CA6910035	CN169374 not specified;
NM_014363.6(SACS):c.12991C>T (p.Arg4331Trp)	26278	SACS	Uncertain significance	rs1555249369	RCV000669194;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23905024	23905024	13:g.23905024G>A	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.12980del (p.Lys4327fs)	26278	SACS	Pathogenic/Likely pathogenic	rs1555249371	RCV000671013\|RCV001380633;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23905035	23905035	13:g.23905035_23905035del	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.12973C>T (p.Arg4325Ter)	26278	SACS	Pathogenic/Likely pathogenic	rs762947018	RCV000169272\|RCV001850396;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23905042	23905042	NC_000013.10:g.23905042G>A	ClinGen:CA274116	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.12923_12927del (p.Lys4308fs)	26278	SACS	Pathogenic/Likely pathogenic	rs1057517294	RCV000409460\|RCV002523874\|RCV002523875;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MeSH:D030342,MedGen:C0950123\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23905088	23905092	13:g.23905088_23905092del	ClinGen:CA16041598	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.12905C>A (p.Ser4302Tyr)	26278	SACS	Uncertain significance	rs778808568	RCV000701275\|RCV001274916;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23905110	23905110	NC_000013.10:g.23905110G>T	-	C0037772 Spastic paraplegia;
NM_014363.6(SACS):c.12884C>T (p.Pro4295Leu)	26278	SACS	Likely benign	rs781029021	RCV000821880\|RCV001825662;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23905131	23905131	13:g.23905131G>A	-
NM_014363.6(SACS):c.12851_12854del (p.Glu4284fs)	26278	SACS	Likely pathogenic	rs786204628	RCV000169401;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23905161	23905164	NC_000013.10:g.23905161CT[2]	ClinGen:CA274258	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.12835_12837del (p.Leu4279del)	26278	SACS	Uncertain significance	rs1555249424	RCV000668420;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23905178	23905180	13:g.23905178_23905180del	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.12835_12836del (p.Leu4279fs)	26278	SACS	Pathogenic/Likely pathogenic	rs1555249425	RCV000674839\|RCV001381028;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23905179	23905180	13:g.23905179_23905180del	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.12830CTC[1] (p.Pro4278del)	26278	SACS	Uncertain significance	rs764766520	RCV000673532;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23905180	23905182	13:g.23905180_23905182del	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.12829C>T (p.Pro4277Ser)	26278	SACS	Conflicting interpretations of pathogenicity	rs370655945	RCV000867623\|RCV001113355\|RCV001288702\|RCV001847073;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MedGen:CN169374\|MONDO:MONDO:00190	13	23905186	23905186	13:g.23905186G>A	-
NM_014363.6(SACS):c.12816C>T (p.Gly4272=)	26278	SACS	Uncertain significance	rs142643824	RCV001113356;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23905199	23905199	13:g.23905199G>A	-
NM_014363.6(SACS):c.12813T>G (p.Pro4271=)	26278	SACS	Conflicting interpretations of pathogenicity	rs146376949	RCV000712961\|RCV001081835\|RCV001114727\|RCV001529134\|RCV001848920;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MedGen:CN517202\|M	13	23905202	23905202	13:g.23905202A>C	ClinGen:CA6910078	C0037772 Spastic paraplegia;
NM_014363.6(SACS):c.12812C>T (p.Pro4271Leu)	26278	SACS	Conflicting interpretations of pathogenicity	rs779668584	RCV001114728\|RCV003117762;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23905203	23905203	13:g.23905203G>A	-
NM_014363.6(SACS):c.12779del (p.Ser4260fs)	26278	SACS	Likely pathogenic	rs1555249460	RCV000666945;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23905236	23905236	13:g.23905236_23905236del	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.12775_12777del (p.Pro4259del)	26278	SACS	Uncertain significance	rs1555249469	RCV000668231;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23905238	23905240	13:g.23905238_23905240del	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.12766del (p.Asp4256fs)	26278	SACS	Likely pathogenic	rs1555249479	RCV000669007;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23905249	23905249	13:g.23905249_23905249del	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.12765G>A (p.Arg4255=)	26278	SACS	Conflicting interpretations of pathogenicity	rs139692779	RCV001114729\|RCV001416509;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23905250	23905250	13:g.23905250C>T	-
NM_014363.6(SACS):c.12762C>T (p.Ser4254=)	26278	SACS	Conflicting interpretations of pathogenicity	rs11554397	RCV000633091\|RCV001114730\|RCV001288701\|RCV001571934\|RCV001849009;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MedGen:CN169374\|MedGen:CN517202\|M	13	23905253	23905253	NC_000013.10:g.23905253G>A	ClinGen:CA6910094	C0037772 Spastic paraplegia;
NM_014363.6(SACS):c.12700T>C (p.Tyr4234His)	26278	SACS	Uncertain significance	rs886050073	RCV000264951;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23905315	23905315	13:g.23905315A>G	ClinGen:CA10639217	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.12693T>C (p.Tyr4231=)	26278	SACS	Uncertain significance	rs1163399365	RCV001114731;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23905322	23905322	13:g.23905322A>G	-
NM_014363.6(SACS):c.12688G>A (p.Gly4230Ser)	26278	SACS	Uncertain significance	rs746194271	RCV000671127;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23905327	23905327	13:g.23905327C>T	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.12673_12677del (p.Tyr4225fs)	26278	SACS	Pathogenic	-1	RCV002571457\|RCV002471600\|RCV003111572;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23905338	23905342	NC_000013.10:g.23905339_23905343del	-
NM_014363.6(SACS):c.12661C>G (p.Leu4221Val)	26278	SACS	Uncertain significance	rs767622491	RCV000670973;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23905354	23905354	13:g.23905354G>C	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.12649A>G (p.Asn4217Asp)	26278	SACS	Conflicting interpretations of pathogenicity	rs35799469	RCV000224626\|RCV000251185\|RCV000322346\|RCV001079358\|RCV001847950;	N	MedGen:CN517202\|MedGen:CN169374\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|M	13	23905366	23905366	13:g.23905366T>C	ClinGen:CA6910119,UniProtKB:Q9NZJ4#VAR_059721	CN517202 not provided;
NM_014363.6(SACS):c.12647A>G (p.Asp4216Gly)	26278	SACS	Conflicting interpretations of pathogenicity	rs550068559	RCV001114732\|RCV001419743;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23905368	23905368	13:g.23905368T>C	-
NM_014363.6(SACS):c.12635G>A (p.Arg4212Lys)	26278	SACS	Uncertain significance	rs1490155590	RCV001277476;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23905380	23905380	13:g.23905380C>T	-
NM_014363.6(SACS):c.12622C>T (p.Gln4208Ter)	26278	SACS	Pathogenic/Likely pathogenic	rs1555249555	RCV000668994\|RCV001232544;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23905393	23905393	13:g.23905393G>A	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.12606A>C (p.Thr4202=)	26278	SACS	Likely benign	rs780674369	RCV000869829\|RCV001825750;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23905409	23905409	13:g.23905409T>G	-
NM_014363.6(SACS):c.12597A>G (p.Pro4199=)	26278	SACS	Conflicting interpretations of pathogenicity	rs112630127	RCV000228765\|RCV000379249\|RCV000516975\|RCV001560895\|RCV001847972;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MedGen:CN169374\|MedGen:CN517202\|M	13	23905418	23905418	13:g.23905418T>C	ClinGen:CA6910129	CN169374 not specified;
NM_014363.6(SACS):c.12540del (p.Glu4180fs)	26278	SACS	Likely pathogenic	rs1057516347	RCV000412310;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23905475	23905475	NC_000013.10:g.23905476del	ClinGen:CA16041599	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.12538G>T (p.Glu4180Ter)	26278	SACS	Pathogenic	-1	RCV001391383;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23905477	23905477	23905477	-
NM_014363.6(SACS):c.12500C>T (p.Thr4167Ile)	26278	SACS	Uncertain significance	rs764098635	RCV001217357\|RCV001828724;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23905515	23905515	13:g.23905515G>A	-
NM_014363.6(SACS):c.12451C>T (p.Leu4151=)	26278	SACS	Benign	-1	RCV001513906\|RCV001826362;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23905564	23905564	23905564	-
NM_014363.6(SACS):c.12438G>A (p.Ser4146=)	26278	SACS	Conflicting interpretations of pathogenicity	rs150959878	RCV000268383\|RCV000861751\|RCV001848096;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0019064,MedGen:C00377	13	23905577	23905577	13:g.23905577C>T	ClinGen:CA6910143	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.12434_12435del (p.Ser4145fs)	26278	SACS	Likely pathogenic	rs1555249599	RCV000670397;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23905580	23905581	13:g.23905580_23905581del	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.12407_12411del (p.Leu4136fs)	26278	SACS	Likely pathogenic	rs1555249607	RCV000666804;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23905604	23905608	13:g.23905604_23905608del	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.12323C>G (p.Ser4108Ter)	26278	SACS	Likely pathogenic	rs1555249633	RCV000671025;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23905692	23905692	13:g.23905692G>C	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.12304T>C (p.Leu4102=)	26278	SACS	Benign/Likely benign	rs2737699	RCV000118230\|RCV000325147\|RCV000676348\|RCV001517093\|RCV001847718;	N	MedGen:CN169374\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MedGen:CN517202\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|M	13	23905711	23905711	13:g.23905711A>G	ClinGen:CA155040	CN517202 not provided;
NM_014363.6(SACS):c.12268C>A (p.His4090Asn)	26278	SACS	Pathogenic	-1	RCV001391382;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23905747	23905747	23905747	-
NM_014363.6(SACS):c.12260A>G (p.Tyr4087Cys)	26278	SACS	Conflicting interpretations of pathogenicity	rs373478772	RCV000712960\|RCV001274917\|RCV002532942;	N	MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23905755	23905755	NC_000013.10:g.23905755T>C	-
NM_014363.6(SACS):c.12232C>T (p.Arg4078Ter)	26278	SACS	Pathogenic/Likely pathogenic	rs141315518	RCV000169220\|RCV001850393\|RCV002509271;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MedGen:CN517202	13	23905783	23905783	13:g.23905783G>A	ClinGen:CA274060	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.12232C>A (p.Arg4078=)	26278	SACS	Likely benign	rs141315518	RCV000861383\|RCV001272180;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23905783	23905783	13:g.23905783G>T	-
NM_014363.6(SACS):c.12220G>C (p.Ala4074Pro)	26278	SACS	Pathogenic	rs137853016	RCV000005849;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23905795	23905795	13:g.23905795C>G	ClinGen:CA253511,UniProtKB:Q9NZJ4#VAR_064822,OMIM:604490.0003	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.12218_12219del (p.Phe4073fs)	26278	SACS	Pathogenic/Likely pathogenic	rs1555249648	RCV000673405\|RCV001861822;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23905796	23905797	13:g.23905796_23905797del	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.12216T>A (p.Thr4072=)	26278	SACS	Conflicting interpretations of pathogenicity	rs574182225	RCV000382122\|RCV000518146\|RCV000865044;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MedGen:CN169374\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23905799	23905799	13:g.23905799A>T	ClinGen:CA6910164	CN169374 not specified;
NM_014363.6(SACS):c.12190C>A (p.Pro4064Thr)	26278	SACS	Conflicting interpretations of pathogenicity	rs200707453	RCV001288699\|RCV001835372\|RCV002541790\|RCV002542996;	N	MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MeSH:D030342,MedG	13	23905825	23905825	23905825	-
NM_014363.6(SACS):c.12160C>T (p.Gln4054Ter)	26278	SACS	Pathogenic/Likely pathogenic	rs281865120	RCV000032008\|RCV000487627\|RCV001044731;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MedGen:CN517202\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23905855	23905855	13:g.23905855G>A	ClinGen:CA343113	CN517202 not provided;
NM_014363.6(SACS):c.12150del (p.Phe4050fs)	26278	SACS	Likely pathogenic	rs1555249662	RCV000669297;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23905865	23905865	13:g.23905865_23905865del	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.12148T>C (p.Phe4050Leu)	26278	SACS	Likely benign	rs147013767	RCV001049336\|RCV001274918\|RCV001644778;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MedGen:CN169374	13	23905867	23905867	NC_000013.10:g.23905867A>G	-
NM_014363.6(SACS):c.12130G>C (p.Gly4044Arg)	26278	SACS	Conflicting interpretations of pathogenicity	rs753511073	RCV001288698\|RCV001835371\|RCV002542995;	N	MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23905885	23905885	23905885	-
NM_014363.6(SACS):c.12075T>G (p.Asn4025Lys)	26278	SACS	Benign	rs778310483	RCV001037235\|RCV001277477;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23905940	23905940	13:g.23905940A>C	-
NM_014363.6(SACS):c.12063T>C (p.His4021=)	26278	SACS	Conflicting interpretations of pathogenicity	rs886050074	RCV000290073\|RCV002056363;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23905952	23905952	13:g.23905952A>G	ClinGen:CA10643105	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.12059A>G (p.Lys4020Arg)	26278	SACS	Uncertain significance	rs1328721442	RCV000798545\|RCV001825572;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23905956	23905956	13:g.23905956T>C	-
NM_014363.6(SACS):c.12054del (p.Ile4018_Met4019insTer)	26278	SACS	Likely pathogenic	rs1555249695	RCV000668875;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23905961	23905961	13:g.23905961_23905961del	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.12035T>C (p.Ile4012Thr)	26278	SACS	Uncertain significance	rs1883497856	RCV001109105;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23905980	23905980	13:g.23905980A>G	-
NM_014363.6(SACS):c.12020C>T (p.Ser4007Phe)	26278	SACS	Uncertain significance	rs1314135259	RCV000673945;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23905995	23905995	13:g.23905995G>A	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.12011_12019del (p.Leu4004_Leu4006del)	26278	SACS	Likely pathogenic	-1	RCV001542778;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23905996	23906004	23905995	-
NM_014363.6(SACS):c.12014T>C (p.Leu4005Pro)	26278	SACS	Pathogenic	-1	RCV001391381;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23906001	23906001	23906001	-
NM_014363.6(SACS):c.11965G>T (p.Val3989Phe)	26278	SACS	Uncertain significance	-1	RCV002667661\|RCV003138328;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23906050	23906050	NC_000013.10:g.23906050C>A	-
NM_014363.6(SACS):c.11942A>G (p.Gln3981Arg)	26278	SACS	Uncertain significance	rs747314113	RCV000676349\|RCV002485565\|RCV002532174;	N	MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MeSH:D030342,MedGen:C0950123	13	23906073	23906073	13:g.23906073T>C	-	CN517202 not provided;
NM_014363.6(SACS):c.11941C>T (p.Gln3981Ter)	26278	SACS	Pathogenic	rs1593121484	RCV000988964\|RCV001858698;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23906074	23906074	13:g.23906074G>A	-
NM_014363.6(SACS):c.11935G>T (p.Glu3979Ter)	26278	SACS	Likely pathogenic	rs1555249745	RCV000674023;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23906080	23906080	13:g.23906080C>A	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.11928T>C (p.Ser3976=)	26278	SACS	Conflicting interpretations of pathogenicity	rs145680118	RCV000347323\|RCV000862657\|RCV001660625;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MedGen:CN169374	13	23906087	23906087	13:g.23906087A>G	ClinGen:CA6910201	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.11927G>A (p.Ser3976Asn)	26278	SACS	Uncertain significance	rs1883504909	RCV001277478;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23906088	23906088	13:g.23906088C>T	-
NM_014363.6(SACS):c.11914C>T (p.Arg3972Ter)	26278	SACS	Pathogenic/Likely pathogenic	rs781491486	RCV001268846\|RCV002499459\|RCV002541639;	N	MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23906101	23906101	13:g.23906101G>A	-
NM_014363.6(SACS):c.11901A>G (p.Gln3967=)	26278	SACS	Uncertain significance	rs572068106	RCV000517047\|RCV001835833;	N	MedGen:CN169374\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23906114	23906114	NC_000013.10:g.23906114T>C	ClinGen:CA6910208	CN169374 not specified;
NM_014363.6(SACS):c.11887A>G (p.Met3963Val)	26278	SACS	Conflicting interpretations of pathogenicity	rs375613914	RCV001288697\|RCV001830099\|RCV002541789;	N	MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23906128	23906128	23906128	-
NM_014363.6(SACS):c.11886A>G (p.Ile3962Met)	26278	SACS	Uncertain significance	-1	RCV001663546\|RCV001832844;	N	MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23906129	23906129	23906129	-
NM_014363.6(SACS):c.11884A>T (p.Ile3962Leu)	26278	SACS	Conflicting interpretations of pathogenicity	rs746953932	RCV000413922\|RCV000863721\|RCV001111441;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23906131	23906131	13:g.23906131T>A	ClinGen:CA6910211	CN169374 not specified;
NM_014363.6(SACS):c.11877dup (p.Lys3960Ter)	26278	SACS	Likely pathogenic	rs1555249766	RCV000665628;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23906137	23906138	13:g.23906137_23906138insA	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.11857_11859del (p.Lys3953del)	26278	SACS	Uncertain significance	rs1555249772	RCV000667378;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23906156	23906158	13:g.23906156_23906158del	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.11853A>G (p.Leu3951=)	26278	SACS	Uncertain significance	rs1883510768	RCV001288696\|RCV001835370;	N	MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23906162	23906162	23906162	-
NM_014363.6(SACS):c.11826G>T (p.Met3942Ile)	26278	SACS	Uncertain significance	-1	RCV003142726;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23906189	23906189	NC_000013.10:g.23906189C>A	-
NM_014363.6(SACS):c.11792A>G (p.Lys3931Arg)	26278	SACS	Uncertain significance	rs764554878	RCV000385354;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23906223	23906223	13:g.23906223T>C	ClinGen:CA6910218	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.11780C>T (p.Ala3927Val)	26278	SACS	Likely benign	rs142926244	RCV001242971\|RCV001835147;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23906235	23906235	13:g.23906235G>A	-
NM_014363.6(SACS):c.11772dup (p.Asp3925Ter)	26278	SACS	Likely pathogenic	rs1555249789	RCV000671109;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23906242	23906243	13:g.23906242_23906243insA	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.11738A>T (p.Asp3913Val)	26278	SACS	Uncertain significance	rs1236705431	RCV000815522\|RCV001825639;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23906277	23906277	13:g.23906277T>A	-
NM_014363.6(SACS):c.11737G>C (p.Asp3913His)	26278	SACS	Conflicting interpretations of pathogenicity	rs746782589	RCV000494097\|RCV001829412\|RCV002527093;	N	MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23906278	23906278	NC_000013.10:g.23906278C>G	ClinGen:CA6910228
NM_014363.6(SACS):c.11731del (p.Ser3911fs)	26278	SACS	Likely pathogenic	rs1057517232	RCV000411930;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23906284	23906284	NC_000013.10:g.23906285del	ClinGen:CA16041600	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.11717C>T (p.Ala3906Val)	26278	SACS	Conflicting interpretations of pathogenicity	rs375961779	RCV000538311\|RCV001835845\|RCV002473047\|RCV002527683;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MedGen:CN517202\|MeSH:D030342,MedG	13	23906298	23906298	13:g.23906298G>A	ClinGen:CA6910234	C0037772 Spastic paraplegia;
NM_014363.6(SACS):c.11713del (p.Ala3906fs)	26278	SACS	Likely pathogenic	rs1555249797	RCV000667644;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23906302	23906302	13:g.23906302_23906302del	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.11707C>T (p.Arg3903Ter)	26278	SACS	Pathogenic	rs774906736	RCV000458276\|RCV000624366\|RCV001785620;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23906308	23906308	NC_000013.10:g.23906308G>A	ClinGen:CA6910236	C0950123 Inborn genetic diseases;
NM_014363.6(SACS):c.11688G>A (p.Arg3896=)	26278	SACS	Conflicting interpretations of pathogenicity	rs116791509	RCV000233808\|RCV000293354\|RCV000518611\|RCV001563142\|RCV001847971;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MedGen:CN169374\|MedGen:CN517202\|M	13	23906327	23906327	13:g.23906327C>T	ClinGen:CA6910240	CN169374 not specified;
NM_014363.6(SACS):c.11684T>G (p.Val3895Gly)	26278	SACS	Uncertain significance	rs766487632	RCV001303997\|RCV001835466;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23906331	23906331	23906331	-
NM_014363.6(SACS):c.11679_11681delinsTAG (p.Lys3894Arg)	26278	SACS	Uncertain significance	-1	RCV003142730;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23906334	23906336	NC_000013.10:g.23906334_23906336delinsCTA	-
NM_014363.6(SACS):c.11637_11638del (p.Arg3879fs)	26278	SACS	Pathogenic	rs1593121924	RCV000850595;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23906377	23906378	13:g.23906377_23906378del	-
NM_014363.6(SACS):c.11627_11628del (p.Thr3876fs)	26278	SACS	Likely pathogenic	rs1555249826	RCV000671709;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23906387	23906388	13:g.23906387_23906388del	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.11624G>A (p.Arg3875His)	26278	SACS	Conflicting interpretations of pathogenicity	rs863224916	RCV001843500\|RCV001848018\|RCV002305471;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685\|MedGen:CN517202	13	23906391	23906391	NC_000013.10:g.23906391C>T	ClinVar:424796,ClinGen:CA351289	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.11576G>A (p.Arg3859His)	26278	SACS	Conflicting interpretations of pathogenicity	rs149427669	RCV001336179\|RCV002547350;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23906439	23906439	23906439	-
NM_014363.6(SACS):c.11535A>G (p.Glu3845=)	26278	SACS	Likely benign	-1	RCV001506234\|RCV001832673;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23906480	23906480	23906480	-
NM_014363.6(SACS):c.11506_11521del (p.His3836fs)	26278	SACS	Likely pathogenic	rs1555249878	RCV000674360;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23906494	23906509	13:g.23906494_23906509del	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.11509C>T (p.Gln3837Ter)	26278	SACS	Likely pathogenic	rs1555249881	RCV000669284;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23906506	23906506	13:g.23906506G>A	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.11432T>C (p.Val3811Ala)	26278	SACS	Uncertain significance	-1	RCV001579248;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23906583	23906583	23906583	-
NM_014363.6(SACS):c.11428dup (p.Glu3810fs)	26278	SACS	Likely pathogenic	rs1555249894	RCV000674129;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23906586	23906587	13:g.23906586_23906587insC	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.11409G>T (p.Trp3803Cys)	26278	SACS	Conflicting interpretations of pathogenicity	rs886050075	RCV000350663\|RCV002520863;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23906606	23906606	13:g.23906606C>A	ClinGen:CA10643107	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.11380G>T (p.Val3794Phe)	26278	SACS	Conflicting interpretations of pathogenicity	rs753844954	RCV000712957\|RCV001825423\|RCV002532941;	N	MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23906635	23906635	NC_000013.10:g.23906635C>A	-
NM_014363.6(SACS):c.11374C>T (p.Arg3792Ter)	26278	SACS	Pathogenic	rs565203731	RCV000411243\|RCV001310676;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MedGen:CN517202	13	23906641	23906641	13:g.23906641G>A	ClinGen:CA16041601	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.11373dup (p.Arg3792fs)	26278	SACS	Pathogenic/Likely pathogenic	rs1555249904	RCV000673091\|RCV002531332;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23906641	23906642	13:g.23906641_23906642insC	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.11327T>C (p.Ile3776Thr)	26278	SACS	Conflicting interpretations of pathogenicity	rs145188410	RCV000698539\|RCV001111442;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23906688	23906688	NC_000013.10:g.23906688A>G	-	C0037772 Spastic paraplegia;
NM_014363.6(SACS):c.11309C>G (p.Ala3770Gly)	26278	SACS	Uncertain significance	rs1170997950	RCV000992776\|RCV001827137;	N	MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23906706	23906706	13:g.23906706G>C	-
NM_014363.6(SACS):c.11302A>G (p.Thr3768Ala)	26278	SACS	Conflicting interpretations of pathogenicity	rs774463808	RCV000992775\|RCV001827136\|RCV002549807\|RCV002549806;	N	MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MeSH:D030342,MedG	13	23906713	23906713	13:g.23906713T>C	-
NM_014363.6(SACS):c.11301A>T (p.Lys3767Asn)	26278	SACS	Conflicting interpretations of pathogenicity	rs762041995	RCV000992774\|RCV001274919\|RCV001858755;	N	MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23906714	23906714	13:g.23906714T>A	-
NM_014363.6(SACS):c.11291A>C (p.Glu3764Ala)	26278	SACS	Uncertain significance	rs1593122374	RCV000815122\|RCV001825638;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23906724	23906724	13:g.23906724T>G	-
NM_014363.6(SACS):c.11282del (p.Leu3761fs)	26278	SACS	Likely pathogenic	-1	RCV001588048;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23906733	23906733	23906732	-
NM_014363.6(SACS):c.11265_11266del (p.Ile3755fs)	26278	SACS	Pathogenic	rs1400601705	RCV000664974\|RCV001387161\|RCV001291595;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MedGen:CN517202	13	23906749	23906750	13:g.23906749_23906750del	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.11264T>C (p.Ile3755Thr)	26278	SACS	Likely benign	rs781590547	RCV001050310\|RCV001827317;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23906751	23906751	13:g.23906751A>G	-
NM_014363.6(SACS):c.11261del (p.Asn3754fs)	26278	SACS	Likely pathogenic	-1	RCV002289230;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23906754	23906754	23906753	-
NM_014363.6(SACS):c.11247_11250del (p.Asn3750fs)	26278	SACS	Likely pathogenic	rs753205260	RCV000411155;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23906765	23906768	13:g.23906765_23906768del	ClinGen:CA6910317	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.11249A>G (p.Asn3750Ser)	26278	SACS	Conflicting interpretations of pathogenicity	-1	RCV001507814\|RCV001785821\|RCV001865926\|RCV001847284;	N	MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:00190	13	23906766	23906766	23906766	-
NM_014363.6(SACS):c.11215G>A (p.Val3739Ile)	26278	SACS	Uncertain significance	rs1027336196	RCV000992773\|RCV001273193;	N	MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23906800	23906800	13:g.23906800C>T	-
NM_014363.6(SACS):c.11207T>C (p.Met3736Thr)	26278	SACS	Uncertain significance	-1	RCV001663544\|RCV001827568;	N	MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23906808	23906808	23906808	-
NM_014363.6(SACS):c.11185C>T (p.Gln3729Ter)	26278	SACS	Likely pathogenic	rs1057516398	RCV000409109;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23906830	23906830	13:g.23906830G>A	ClinGen:CA16041602	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.11179C>T (p.Gln3727Ter)	26278	SACS	Likely pathogenic	rs1555249966	RCV000666271;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23906836	23906836	13:g.23906836G>A	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.11161G>A (p.Gly3721Ser)	26278	SACS	Uncertain significance	rs780789569	RCV000712956\|RCV001830583\|RCV002534513;	N	MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MeSH:D030342,MedGen:C0950123	13	23906854	23906854	NC_000013.10:g.23906854C>T	-
NM_014363.6(SACS):c.11149_11150insT (p.Lys3717fs)	26278	SACS	Likely pathogenic	rs1555249977	RCV000666783;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23906865	23906866	13:g.23906865_23906866insA	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.11150A>T (p.Lys3717Ile)	26278	SACS	Uncertain significance	rs1883567634	RCV001296954\|RCV001830141;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23906865	23906865	23906865	-
NM_014363.6(SACS):c.11136del (p.Pro3713_Leu3714insTer)	26278	SACS	Pathogenic/Likely pathogenic	-1	RCV001383518\|RCV002469390;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23906879	23906879	23906878	-
NM_014363.6(SACS):c.11116A>G (p.Ile3706Val)	26278	SACS	Likely benign	rs748237614	RCV001208129\|RCV001828667;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23906899	23906899	13:g.23906899T>C	-
NM_014363.6(SACS):c.11109C>T (p.Ser3703=)	26278	SACS	Conflicting interpretations of pathogenicity	rs1883570677	RCV001288695\|RCV001454515\|RCV001780235;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23906906	23906906	23906906	-
NM_014363.6(SACS):c.11101T>C (p.Trp3701Arg)	26278	SACS	Affects	rs773588375	RCV000757941;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23906914	23906914	NC_000013.10:g.23906914A>G	-
NM_014363.6(SACS):c.11092C>T (p.Gln3698Ter)	26278	SACS	Likely pathogenic	rs1883571494	RCV002790005;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23906923	23906923	NC_000013.10:g.23906923G>A	-
NM_014363.6(SACS):c.11081dup (p.Cys3694fs)	26278	SACS	Likely pathogenic	rs1057516856	RCV000410800;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23906933	23906934	13:g.23906933_23906934insC	ClinGen:CA16041603	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.11066C>A (p.Pro3689Gln)	26278	SACS	Conflicting interpretations of pathogenicity	rs148925505	RCV000761851\|RCV001111443\|RCV001241078\|RCV001849092;	N	MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:00190	13	23906949	23906949	NC_000013.10:g.23906949G>T	-
NM_014363.6(SACS):c.11049T>C (p.Asn3683=)	26278	SACS	Conflicting interpretations of pathogenicity	rs773770705	RCV000973335\|RCV001664583\|RCV001832214\|RCV001847118;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MedGen:CN169374\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MONDO:MONDO:00190	13	23906966	23906966	13:g.23906966A>G	-
NM_014363.6(SACS):c.11048A>G (p.Asn3683Ser)	26278	SACS	Conflicting interpretations of pathogenicity	rs138609508	RCV001200357\|RCV001780106\|RCV001491334;	N	MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23906967	23906967	13:g.23906967T>C	-
NM_014363.6(SACS):c.11042dup (p.Phe3682fs)	26278	SACS	Likely pathogenic	rs756597098	RCV000412102;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23906972	23906973	13:g.23906972_23906973insT	ClinGen:CA6910349	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.11039_11040insTA (p.Phe3682fs)	26278	SACS	Likely pathogenic	rs1555250016	RCV000674086;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23906975	23906976	13:g.23906975_23906976insTA	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.11032C>G (p.Pro3678Ala)	26278	SACS	Benign/Likely benign	rs17078601	RCV000254240\|RCV000398344\|RCV000456504\|RCV000676350\|RCV001848026;	N	MedGen:CN169374\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MedGen:CN517202\|M	13	23906983	23906983	NC_000013.10:g.23906983G>C	ClinGen:CA6910351,UniProtKB:Q9NZJ4#VAR_059720	CN517202 not provided;
NM_014363.6(SACS):c.11027C>T (p.Thr3676Ile)	26278	SACS	Uncertain significance	rs1883575875	RCV001113444;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23906988	23906988	13:g.23906988G>A	-
NM_014363.6(SACS):c.11008_11013del (p.Tyr3670_Gln3671del)	26278	SACS	Uncertain significance	-1	RCV002251128;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23907002	23907007	23907001	-
NM_014363.6(SACS):c.10993_11002dup (p.Pro3668fs)	26278	SACS	Likely pathogenic	rs1555250022	RCV000664740;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23907012	23907013	13:g.23907012_23907013insGATGAAATCT	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.11003C>G (p.Pro3668Arg)	26278	SACS	Uncertain significance	rs1883577094	RCV001277479;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23907012	23907012	13:g.23907012G>C	-
NM_014363.6(SACS):c.10983G>A (p.Ala3661=)	26278	SACS	Benign/Likely benign	rs200900703	RCV001277480\|RCV001644967\|RCV002541661;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MedGen:CN169374\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23907032	23907032	13:g.23907032C>T	-
NM_014363.6(SACS):c.10982C>T (p.Ala3661Val)	26278	SACS	Conflicting interpretations of pathogenicity	rs36061856	RCV000193480\|RCV000230933\|RCV000278445\|RCV001079338\|RCV001847870;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|M	13	23907033	23907033	NC_000013.10:g.23907033G>A	ClinGen:CA207002	CN169374 not specified;
NM_014363.6(SACS):c.10967C>G (p.Pro3656Arg)	26278	SACS	Uncertain significance	rs886050076	RCV000335796;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23907048	23907048	13:g.23907048G>C	ClinGen:CA10643108	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.10954C>A (p.Pro3652Thr)	26278	SACS	Conflicting interpretations of pathogenicity	rs201505036	RCV000466695\|RCV001288373\|RCV001833594;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23907061	23907061	NC_000013.10:g.23907061G>T	ClinGen:CA6910364	C0037772 Spastic paraplegia;
NM_014363.6(SACS):c.10932dup (p.Leu3645fs)	26278	SACS	Pathogenic	-1	RCV001391627;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23907082	23907083	23907082	-
NM_014363.6(SACS):c.10909A>G (p.Met3637Val)	26278	SACS	Conflicting interpretations of pathogenicity	rs150309559	RCV000863055\|RCV001113445;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23907106	23907106	13:g.23907106T>C	-
NM_014363.6(SACS):c.10907G>A (p.Arg3636Gln)	26278	SACS	Uncertain significance	rs281865119	RCV000032007\|RCV001244900;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23907108	23907108	13:g.23907108C>T	ClinGen:CA343112,UniProtKB:Q9NZJ4#VAR_064818	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.10906C>T (p.Arg3636Ter)	26278	SACS	Pathogenic/Likely pathogenic	rs780247476	RCV000192438\|RCV000633059\|RCV002517975;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MeSH:D030342,MedGen:C0950123	13	23907109	23907109	NC_000013.10:g.23907109G>A	ClinGen:CA276970	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.10901A>C (p.Gln3634Pro)	26278	SACS	Uncertain significance	-1	RCV002225241;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23907114	23907114	23907114	-
NM_014363.6(SACS):c.10900C>T (p.Gln3634Ter)	26278	SACS	Pathogenic/Likely pathogenic	-1	RCV002756833\|RCV003134495;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23907115	23907115	NC_000013.10:g.23907115G>A	-
NM_014363.6(SACS):c.10896A>G (p.Ile3632Met)	26278	SACS	Conflicting interpretations of pathogenicity	rs35256065	RCV000392204\|RCV000633069\|RCV000518679\|RCV001573868;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MedGen:CN169374\|MedGen:CN517202	13	23907119	23907119	13:g.23907119T>C	ClinGen:CA6910375	CN169374 not specified;
NM_014363.6(SACS):c.10864C>T (p.Gln3622Ter)	26278	SACS	Likely pathogenic	rs1057516578	RCV000412194;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23907151	23907151	13:g.23907151G>A	ClinGen:CA16041604	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.10854del (p.Glu3619fs)	26278	SACS	Likely pathogenic	rs1057516773	RCV000410993;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23907161	23907161	13:g.23907161_23907161del	ClinGen:CA16041605	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.10822_10823del (p.Ser3608fs)	26278	SACS	Pathogenic/Likely pathogenic	rs1555250082	RCV000673586\|RCV000734417;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MedGen:CN517202	13	23907192	23907193	NC_000013.10:g.23907192_23907193del	-
NM_014363.6(SACS):c.10821C>A (p.Ile3607=)	26278	SACS	Conflicting interpretations of pathogenicity	rs113595574	RCV000226968\|RCV000516532\|RCV001113446\|RCV001689760\|RCV001847970;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MedGen:CN169374\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MedGen:CN517202\|M	13	23907194	23907194	NC_000013.10:g.23907194G>T	ClinGen:CA6910385	CN169374 not specified;
NM_014363.6(SACS):c.10819A>G (p.Ile3607Val)	26278	SACS	Uncertain significance	rs372494676	RCV001278819;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23907196	23907196	13:g.23907196T>C	-
NM_014363.6(SACS):c.10813A>T (p.Lys3605Ter)	26278	SACS	Pathogenic	rs1360298758	RCV000625786;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23907202	23907202	13:g.23907202T>A	ClinGen:CA387511366	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.10804C>T (p.Gln3602Ter)	26278	SACS	Pathogenic/Likely pathogenic	rs1057517002	RCV000411733\|RCV001861386;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23907211	23907211	13:g.23907211G>A	ClinGen:CA16041606	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.10790A>G (p.Gln3597Arg)	26278	SACS	Likely benign	-1	RCV001359227\|RCV001825992;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23907225	23907225	23907225	-
NM_014363.6(SACS):c.10787C>T (p.Ser3596Phe)	26278	SACS	Uncertain significance	rs755172172	RCV001288372\|RCV001836255;	N	MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23907228	23907228	23907228	-
NM_014363.6(SACS):c.10780A>T (p.Ile3594Leu)	26278	SACS	Uncertain significance	rs994425261	RCV001333045;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23907235	23907235	23907235	-
NM_014363.6(SACS):c.10755_10757del (p.Phe3585del)	26278	SACS	Uncertain significance	rs771277098	RCV000671400;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23907258	23907260	13:g.23907258_23907260del	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.10737G>A (p.Met3579Ile)	26278	SACS	Uncertain significance	rs199970621	RCV000992771\|RCV001274920;	N	MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23907278	23907278	13:g.23907278C>T	-
NM_014363.6(SACS):c.10731A>C (p.Thr3577=)	26278	SACS	Likely benign	rs759287298	RCV000980730\|RCV001395880\|RCV001827103;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23907284	23907284	13:g.23907284T>G	-
NM_014363.6(SACS):c.10716C>G (p.Pro3572=)	26278	SACS	Conflicting interpretations of pathogenicity	rs886050077	RCV000300713\|RCV001493823;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23907299	23907299	NC_000013.10:g.23907299G>C	ClinGen:CA10644019	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.10705C>T (p.Leu3569Phe)	26278	SACS	Uncertain significance	rs1883603870	RCV001113447;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23907310	23907310	13:g.23907310G>A	-
NM_014363.6(SACS):c.10699G>A (p.Glu3567Lys)	26278	SACS	Uncertain significance	rs886050078	RCV000358026;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23907316	23907316	NC_000013.10:g.23907316C>T	ClinGen:CA10644020	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.10686_10689del (p.Phe3562fs)	26278	SACS	Likely pathogenic	rs779338945	RCV000410430;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23907326	23907329	13:g.23907326_23907329del	ClinGen:CA6910411	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.10675C>G (p.Pro3559Ala)	26278	SACS	Uncertain significance	rs767704103	RCV000518436\|RCV000633011\|RCV001783014;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23907340	23907340	NC_000013.10:g.23907340G>C	ClinGen:CA6910413	CN169374 not specified;
NM_014363.6(SACS):c.10668G>A (p.Leu3556=)	26278	SACS	Conflicting interpretations of pathogenicity	rs139517699	RCV000676351\|RCV001783099\|RCV001086031;	N	MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23907347	23907347	13:g.23907347C>T	ClinGen:CA6910414	CN517202 not provided;
NM_014363.6(SACS):c.10651_10656del (p.Met3551_Leu3552del)	26278	SACS	Uncertain significance	rs1555250156	RCV000664815;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23907359	23907364	13:g.23907359_23907364del	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.10644del (p.Phe3548fs)	26278	SACS	Pathogenic	rs1555250160	RCV000625764;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23907371	23907371	13:g.23907371_23907371del	ClinGen:CA658798030	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.10634_10635del (p.Val3545fs)	26278	SACS	Pathogenic	-1	RCV001391626;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23907380	23907381	23907379	-
NM_014363.6(SACS):c.10622A>G (p.Tyr3541Cys)	26278	SACS	Conflicting interpretations of pathogenicity	rs747013127	RCV000517352\|RCV001829472\|RCV002525070;	N	MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23907393	23907393	NC_000013.10:g.23907393T>C	ClinGen:CA6910422	CN169374 not specified;
NM_014363.6(SACS):c.10611A>G (p.Ala3537=)	26278	SACS	Conflicting interpretations of pathogenicity	rs137856939	RCV000392205\|RCV000516579\|RCV000710203\|RCV001079473\|RCV001847969;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MedGen:CN169374\|MedGen:CN517202\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|M	13	23907404	23907404	NC_000013.10:g.23907404T>C	ClinGen:CA6910424	CN169374 not specified;
NM_014363.6(SACS):c.10576A>G (p.Ile3526Val)	26278	SACS	Conflicting interpretations of pathogenicity	rs199881455	RCV000304456\|RCV001504069;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23907439	23907439	NC_000013.10:g.23907439T>C	ClinGen:CA6910428	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.10546C>T (p.Gln3516Ter)	26278	SACS	Likely pathogenic	rs1593123432	RCV001004402;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23907469	23907469	13:g.23907469G>A	-
NM_014363.6(SACS):c.10536del (p.Ile3513fs)	26278	SACS	Likely pathogenic	rs1555250183	RCV000673391;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23907479	23907479	13:g.23907479_23907479del	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.10534G>C (p.Glu3512Gln)	26278	SACS	Uncertain significance	rs1883614344	RCV001114842;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23907481	23907481	13:g.23907481C>G	-
NM_014363.6(SACS):c.10515A>C (p.Ser3505=)	26278	SACS	Uncertain significance	rs1883615412	RCV001114843;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23907500	23907500	13:g.23907500T>G	-
NM_014363.6(SACS):c.10513T>C (p.Ser3505Pro)	26278	SACS	Uncertain significance	rs1883615724	RCV001114844;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23907502	23907502	13:g.23907502A>G	-
NM_014363.6(SACS):c.10508_10510del (p.Arg3503_Leu3504delinsIle)	26278	SACS	Uncertain significance	rs1555250190	RCV000673787;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23907505	23907507	13:g.23907505_23907507del	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.10501_10505del (p.Leu3500_Lys3501insTer)	26278	SACS	Likely pathogenic	rs1555250191	RCV000674437;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23907510	23907514	13:g.23907510_23907514del	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.10497C>A (p.Tyr3499Ter)	26278	SACS	Pathogenic/Likely pathogenic	rs755186798	RCV000409179\|RCV001861363;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23907518	23907518	13:g.23907518G>T	ClinGen:CA16041607	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.10485G>A (p.Glu3495=)	26278	SACS	Conflicting interpretations of pathogenicity	rs757255802	RCV001114845\|RCV001472210;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23907530	23907530	13:g.23907530C>T	-
NM_014363.6(SACS):c.10482A>G (p.Leu3494=)	26278	SACS	Benign	rs149643158	RCV000868694\|RCV001273194\|RCV001664505;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MedGen:CN169374	13	23907533	23907533	13:g.23907533T>C	-
NM_014363.6(SACS):c.10466_10467del (p.Ser3489fs)	26278	SACS	Likely pathogenic	rs786204416	RCV000168999;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23907548	23907549	NC_000013.10:g.23907549GA[2]	ClinGen:CA273875	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.10461_10462delinsAA (p.Asn3487_Leu3488delinsLysIle)	26278	SACS	Uncertain significance	rs886043821	RCV000303594\|RCV001782778;	N	MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23907553	23907554	NC_000013.10:g.23907553_23907554delinsTT	ClinGen:CA10605992	CN169374 not specified;
NM_014363.6(SACS):c.10444_10447del (p.Leu3482fs)	26278	SACS	Pathogenic	-1	RCV002284304;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23907568	23907571	23907567	-
NM_014363.6(SACS):c.10443C>G (p.Leu3481=)	26278	SACS	Conflicting interpretations of pathogenicity	rs144087359	RCV000361442\|RCV000862081\|RCV001723893\|RCV001288370\|RCV001848097;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MedGen:CN169374\|MedGen:CN517202\|M	13	23907572	23907572	NC_000013.10:g.23907572G>C	ClinGen:CA6910450	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.10438C>T (p.His3480Tyr)	26278	SACS	Uncertain significance	rs761189797	RCV001243104\|RCV001829014;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23907577	23907577	13:g.23907577G>A	-
NM_014363.6(SACS):c.10424_10426del (p.Glu3475del)	26278	SACS	Uncertain significance	rs1555250217	RCV000672202;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23907589	23907591	13:g.23907589_23907591del	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.10387T>C (p.Tyr3463His)	26278	SACS	Uncertain significance	rs1883623876	RCV001238280\|RCV001834064;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23907628	23907628	13:g.23907628A>G	-
NM_014363.6(SACS):c.10379_10383del (p.Lys3460fs)	26278	SACS	Likely pathogenic	rs1555250255	RCV000668473;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23907632	23907636	13:g.23907632_23907636del	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.10338G>A (p.Gln3446=)	26278	SACS	Benign	rs2737701	RCV000118229\|RCV000270430\|RCV000676352\|RCV001509973\|RCV001847717;	N	MedGen:CN169374\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MedGen:CN517202\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|M	13	23907677	23907677	13:g.23907677C>T	ClinGen:CA155038	CN517202 not provided;
NM_014363.6(SACS):c.10305T>C (p.Ser3435=)	26278	SACS	Conflicting interpretations of pathogenicity	rs35670472	RCV000633092\|RCV001109204\|RCV001288369\|RCV001558026\|RCV001849010;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MedGen:CN169374\|MedGen:CN517202\|M	13	23907710	23907710	NC_000013.10:g.23907710A>G	ClinGen:CA6910469	C0037772 Spastic paraplegia;
NM_014363.6(SACS):c.10298C>G (p.Thr3433Arg)	26278	SACS	Uncertain significance	rs200991790	RCV000460462\|RCV001823002;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23907717	23907717	NC_000013.10:g.23907717G>C	ClinGen:CA16613791	C0037772 Spastic paraplegia;
NM_014363.6(SACS):c.10298C>T (p.Thr3433Ile)	26278	SACS	Conflicting interpretations of pathogenicity	rs200991790	RCV000862368\|RCV001109205;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23907717	23907717	13:g.23907717G>A	-
NM_014363.6(SACS):c.10291G>C (p.Val3431Leu)	26278	SACS	Conflicting interpretations of pathogenicity	rs144179865	RCV000862183\|RCV001086035\|RCV001109206;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23907724	23907724	13:g.23907724C>G	-
NM_014363.6(SACS):c.10274A>G (p.Lys3425Arg)	26278	SACS	Conflicting interpretations of pathogenicity	rs147317123	RCV000327882\|RCV000329092\|RCV001082514;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MedGen:CN169374\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23907741	23907741	13:g.23907741T>C	ClinGen:CA6910476	CN169374 not specified;
NM_014363.6(SACS):c.10268T>C (p.Ile3423Thr)	26278	SACS	Conflicting interpretations of pathogenicity	-1	RCV001578934\|RCV002570818;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23907747	23907747	23907747	-
NM_014363.6(SACS):c.10256G>A (p.Arg3419His)	26278	SACS	Conflicting interpretations of pathogenicity	-1	RCV001663543\|RCV001827567\|RCV002538571;	N	MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23907759	23907759	23907759	-
NM_014363.6(SACS):c.10255C>T (p.Arg3419Cys)	26278	SACS	Conflicting interpretations of pathogenicity	-1	RCV001663542\|RCV001832843\|RCV002539647;	N	MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23907760	23907760	23907760	-
NM_014363.6(SACS):c.10227A>G (p.Ser3409=)	26278	SACS	Likely benign	rs1593123878	RCV000902674\|RCV001825815;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23907788	23907788	13:g.23907788T>C	-
NM_014363.6(SACS):c.10221A>G (p.Leu3407=)	26278	SACS	Benign	rs143243372	RCV000867076\|RCV001288368\|RCV001830893;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MedGen:CN169374\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23907794	23907794	13:g.23907794T>C	-
NM_014363.6(SACS):c.10205A>G (p.Asp3402Gly)	26278	SACS	Conflicting interpretations of pathogenicity	rs543563990	RCV000802657\|RCV001274921\|RCV001662833;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MedGen:CN517202	13	23907810	23907810	13:g.23907810T>C	-
NM_014363.6(SACS):c.10181A>G (p.Asn3394Ser)	26278	SACS	Conflicting interpretations of pathogenicity	rs375898103	RCV000712954\|RCV001273195\|RCV001491310;	N	MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23907834	23907834	NC_000013.10:g.23907834T>C	-
NM_014363.6(SACS):c.10158A>G (p.Ala3386=)	26278	SACS	Conflicting interpretations of pathogenicity	rs775633710	RCV001288367\|RCV001398932\|RCV001780234;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23907857	23907857	23907857	-
NM_014363.6(SACS):c.10136T>G (p.Leu3379Ter)	26278	SACS	Pathogenic/Likely pathogenic	rs1057517250	RCV000412241\|RCV000992769\|RCV001861393;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MedGen:CN517202\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23907879	23907879	13:g.23907879A>C	ClinGen:CA16041608	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.10126G>A (p.Ala3376Thr)	26278	SACS	Uncertain significance	-1	RCV002952956\|RCV003138408;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23907889	23907889	NC_000013.10:g.23907889C>T	-
NM_014363.6(SACS):c.10118C>T (p.Thr3373Ile)	26278	SACS	Conflicting interpretations of pathogenicity	rs200591364	RCV000517432\|RCV000676353\|RCV001834668\|RCV002527516;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23907897	23907897	NC_000013.10:g.23907897G>A	ClinGen:CA6910502	CN517202 not provided;
NM_014363.6(SACS):c.10106T>C (p.Val3369Ala)	26278	SACS	Benign/Likely benign	rs17078605	RCV000118228\|RCV000366246\|RCV000676354\|RCV001517094\|RCV001847716;	N	MedGen:CN169374\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MedGen:CN517202\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|M	13	23907909	23907909	13:g.23907909A>G	ClinGen:CA155036,UniProtKB:Q9NZJ4#VAR_010296	CN517202 not provided;
NM_014363.6(SACS):c.10103_10104insTATAGATT (p.Met3368fs)	26278	SACS	Likely pathogenic	-1	RCV002238635;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23907911	23907912	23907911	-
NM_014363.6(SACS):c.10096C>T (p.His3366Tyr)	26278	SACS	Conflicting interpretations of pathogenicity	rs1388546547	RCV001111537\|RCV002556175;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23907919	23907919	13:g.23907919G>A	-
NM_014363.6(SACS):c.10090del (p.Ala3364fs)	26278	SACS	Likely pathogenic	rs1057517383	RCV000410438;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23907925	23907925	13:g.23907925_23907925del	ClinGen:CA16041609	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.10087A>T (p.Lys3363Ter)	26278	SACS	Likely pathogenic	rs1555250359	RCV000673894;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23907928	23907928	13:g.23907928T>A	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.10076C>T (p.Thr3359Ile)	26278	SACS	Conflicting interpretations of pathogenicity	rs368089670	RCV001246542\|RCV001328751;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23907939	23907939	13:g.23907939G>A	-
NM_014363.6(SACS):c.10064T>G (p.Ile3355Arg)	26278	SACS	Uncertain significance	rs372488932	RCV000273799;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23907951	23907951	NC_000013.10:g.23907951A>C	ClinGen:CA6910515	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.10050del (p.His3351fs)	26278	SACS	Likely pathogenic	rs1555250383	RCV000665203;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23907965	23907965	13:g.23907965_23907965del	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.10047A>G (p.Ser3349=)	26278	SACS	Likely benign	rs138909482	RCV000876569\|RCV001273196\|RCV001805926;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MedGen:CN517202	13	23907968	23907968	13:g.23907968T>C	-
NM_014363.6(SACS):c.10034T>C (p.Val3345Ala)	26278	SACS	Uncertain significance	rs767926148	RCV000672333;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23907981	23907981	13:g.23907981A>G	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.10024_10025del (p.Ser3342fs)	26278	SACS	Likely pathogenic	rs1555250395	RCV000672515;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23907990	23907991	13:g.23907990_23907991del	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.10011C>G (p.Ile3337Met)	26278	SACS	Uncertain significance	-1	RCV001578945;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23908004	23908004	23908004	-
NM_014363.6(SACS):c.10008A>G (p.Lys3336=)	26278	SACS	Conflicting interpretations of pathogenicity	rs148971954	RCV000862514\|RCV001111538\|RCV001664493\|RCV001593072;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MedGen:CN169374\|MedGen:CN517202	13	23908007	23908007	13:g.23908007T>C	-
NM_014363.6(SACS):c.9981T>C (p.Ala3327=)	26278	SACS	Benign/Likely benign	rs2737700	RCV000118235\|RCV000331174\|RCV000676355\|RCV001509974\|RCV001847723;	N	MedGen:CN169374\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MedGen:CN517202\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|M	13	23908034	23908034	13:g.23908034A>G	ClinGen:CA155050	CN517202 not provided;
NM_014363.6(SACS):c.9947A>C (p.Gln3316Pro)	26278	SACS	Conflicting interpretations of pathogenicity	rs775506976	RCV001830006\|RCV001847210\|RCV001247263;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontolo	13	23908068	23908068	13:g.23908068T>G	-
NM_014363.6(SACS):c.9912C>T (p.Leu3304=)	26278	SACS	Conflicting interpretations of pathogenicity	rs1593124372	RCV000979103\|RCV001410507\|RCV001578937;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23908103	23908103	13:g.23908103G>A	-
NM_014363.6(SACS):c.9903G>T (p.Leu3301=)	26278	SACS	Conflicting interpretations of pathogenicity	rs563145604	RCV001111539\|RCV001477623\|RCV001664692;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MedGen:CN169374	13	23908112	23908112	13:g.23908112C>A	-
NM_014363.6(SACS):c.9898_9900del (p.Val3300del)	26278	SACS	Uncertain significance	rs762506287	RCV000665073;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23908115	23908117	13:g.23908115_23908117del	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.9893_9895del (p.Gly3298del)	26278	SACS	Uncertain significance	rs1293576848	RCV000672020;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23908120	23908122	13:g.23908120_23908122del	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.9887C>T (p.Pro3296Leu)	26278	SACS	Uncertain significance	rs779195622	RCV000388007;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23908128	23908128	NC_000013.10:g.23908128G>A	ClinGen:CA6910546	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.9879del (p.Val3294fs)	26278	SACS	Likely pathogenic	-1	RCV001808018;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23908136	23908136	23908135	-
NM_014363.6(SACS):c.9866C>G (p.Ser3289Ter)	26278	SACS	Pathogenic	-1	RCV001421040;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23908149	23908149	23908149	-
NM_014363.6(SACS):c.9852A>G (p.Thr3284=)	26278	SACS	Conflicting interpretations of pathogenicity	rs147506904	RCV000281392\|RCV001089187\|RCV001113530\|RCV001288380;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MedGen:CN169374	13	23908163	23908163	13:g.23908163T>C	ClinGen:CA6910551	CN169374 not specified;
NM_014363.6(SACS):c.9846A>G (p.Pro3282=)	26278	SACS	Benign/Likely benign	rs61753111	RCV000516893\|RCV001083576\|RCV001274922\|RCV001848839;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MONDO:MONDO:00190	13	23908169	23908169	NC_000013.10:g.23908169T>C	ClinGen:CA6910554	CN169374 not specified;
NM_014363.6(SACS):c.9818_9831del (p.Asp3273fs)	26278	SACS	Likely pathogenic	rs1057516464	RCV000410298;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23908184	23908197	13:g.23908184_23908197del	ClinGen:CA16041610	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.9805G>A (p.Asp3269Asn)	26278	SACS	Conflicting interpretations of pathogenicity	-1	RCV001756657\|RCV002488511\|RCV002543940;	N	MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23908210	23908210	23908210	-
NM_014363.6(SACS):c.9791C>G (p.Thr3264Arg)	26278	SACS	Conflicting interpretations of pathogenicity	-1	RCV001786671\|RCV002506825\|RCV002541247;	N	MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23908224	23908224	23908224	-
NM_014363.6(SACS):c.9788A>G (p.Glu3263Gly)	26278	SACS	Likely benign	-1	RCV001450119\|RCV001826273;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23908227	23908227	23908227	-
NM_014363.6(SACS):c.9774AGA[1] (p.Glu3259del)	26278	SACS	Uncertain significance	rs768958169	RCV000665334;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23908236	23908238	13:g.23908236_23908238del	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.9779A>G (p.Asp3260Gly)	26278	SACS	Uncertain significance	rs1883670937	RCV001113531;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23908236	23908236	13:g.23908236T>C	-
NM_014363.6(SACS):c.9763_9764del (p.Val3255fs)	26278	SACS	Likely pathogenic	rs1555250508	RCV000673219;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23908251	23908252	13:g.23908251_23908252del	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.9742T>C (p.Trp3248Arg)	26278	SACS	Pathogenic	rs137853018	RCV000005854;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23908273	23908273	13:g.23908273A>G	ClinGen:CA253516,UniProtKB:Q9NZJ4#VAR_064816,OMIM:604490.0008	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.9723G>C (p.Glu3241Asp)	26278	SACS	Conflicting interpretations of pathogenicity	rs772595501	RCV000625697\|RCV002531924;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23908292	23908292	NC_000013.10:g.23908292C>G	ClinGen:CA6910575	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.9680A>C (p.Lys3227Thr)	26278	SACS	Conflicting interpretations of pathogenicity	rs765635417	RCV000712995\|RCV001825427\|RCV002532946;	N	MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23908335	23908335	NC_000013.10:g.23908335T>G	-
NM_014363.6(SACS):c.9677A>G (p.Tyr3226Cys)	26278	SACS	Conflicting interpretations of pathogenicity	rs776143384	RCV000992802\|RCV001273197\|RCV002549812;	N	MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23908338	23908338	13:g.23908338T>C	-
NM_014363.6(SACS):c.9670C>T (p.Arg3224Ter)	26278	SACS	Likely pathogenic	rs751568153	RCV000781830;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23908345	23908345	NC_000013.10:g.23908345G>A	-
NM_014363.6(SACS):c.9661G>A (p.Val3221Met)	26278	SACS	Conflicting interpretations of pathogenicity	-1	RCV001458158\|RCV001579252;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23908354	23908354	23908354	-
NM_014363.6(SACS):c.9653T>G (p.Leu3218Ter)	26278	SACS	Likely pathogenic	-1	RCV001779520;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23908362	23908362	23908362	-
NM_014363.6(SACS):c.9625_9628del (p.Phe3209fs)	26278	SACS	Likely pathogenic	rs1555250557	RCV000670846;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23908387	23908390	13:g.23908387_23908390del	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.9572C>T (p.Thr3191Ile)	26278	SACS	Uncertain significance	rs1883687760	RCV001113532;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23908443	23908443	13:g.23908443G>A	-
NM_014363.6(SACS):c.9561_9564del (p.Leu3187_Phe3188insTer)	26278	SACS	Pathogenic	rs1060503431	RCV000470443\|RCV001283763;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23908451	23908454	NC_000013.10:g.23908453_23908456del	ClinGen:CA16613883	C0037772 Spastic paraplegia;
NM_014363.6(SACS):c.9562T>C (p.Phe3188Leu)	26278	SACS	Conflicting interpretations of pathogenicity	rs137905181	RCV000712994\|RCV000765118\|RCV001034278;	N	MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23908453	23908453	NC_000013.10:g.23908453A>G	-
NM_014363.6(SACS):c.9551G>A (p.Arg3184His)	26278	SACS	Conflicting interpretations of pathogenicity	rs200453385	RCV000689777\|RCV001829908\|RCV001849054;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MONDO:MONDO:0019064,MedGen:C00377	13	23908464	23908464	NC_000013.10:g.23908464C>T	-	C0037772 Spastic paraplegia;
NM_014363.6(SACS):c.9550C>T (p.Arg3184Cys)	26278	SACS	Conflicting interpretations of pathogenicity	rs143557803	RCV000518073\|RCV000560872\|RCV001113533;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23908465	23908465	NC_000013.10:g.23908465G>A	ClinGen:CA6910606	CN169374 not specified;
NM_014363.6(SACS):c.9523ACA[1] (p.Thr3176del)	26278	SACS	Uncertain significance	rs1161557781	RCV000667115;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23908487	23908489	13:g.23908487_23908489del	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.9508C>T (p.Arg3170Ter)	26278	SACS	Pathogenic/Likely pathogenic	rs202199411	RCV000297710\|RCV000411666\|RCV001223182;	N	MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23908507	23908507	NC_000013.10:g.23908507G>A	ClinGen:CA6910613
NM_014363.6(SACS):c.9498del (p.Phe3166fs)	26278	SACS	Likely pathogenic	rs1555250642	RCV000673287;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23908517	23908517	13:g.23908517_23908517del	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.9492A>C (p.Gln3164His)	26278	SACS	Uncertain significance	rs1025915131	RCV001346818\|RCV001825934;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23908523	23908523	23908523	-
NM_014363.6(SACS):c.9447del (p.Val3150fs)	26278	SACS	Likely pathogenic	rs1555250653	RCV000670775;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23908568	23908568	13:g.23908568_23908568del	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.9404T>C (p.Leu3135Ser)	26278	SACS	Conflicting interpretations of pathogenicity	rs371019314	RCV000463355\|RCV000712993\|RCV001782958\|RCV001848816;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MONDO:MONDO:00190	13	23908611	23908611	NC_000013.10:g.23908611A>G	ClinGen:CA6910624	C0037772 Spastic paraplegia;
NM_014363.6(SACS):c.9399A>G (p.Lys3133=)	26278	SACS	Conflicting interpretations of pathogenicity	rs762665640	RCV000546063\|RCV001274923\|RCV001848925;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MONDO:MONDO:0019064,MedGen:C00377	13	23908616	23908616	13:g.23908616T>C	ClinGen:CA6910625	C0037772 Spastic paraplegia;
NM_014363.6(SACS):c.9390_9391del (p.His3130fs)	26278	SACS	Likely pathogenic	rs1057517349	RCV000410981;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23908624	23908625	13:g.23908624_23908625del	ClinGen:CA16041611	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.9375_9379del (p.Asn3125fs)	26278	SACS	Likely pathogenic	rs1555250684	RCV000667429;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23908636	23908640	13:g.23908636_23908640del	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.9377dup (p.Leu3128fs)	26278	SACS	Likely pathogenic	rs1057516875	RCV000410587;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23908637	23908638	13:g.23908637_23908638insA	ClinGen:CA16041612	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.9356GTC[1] (p.Arg3120del)	26278	SACS	Uncertain significance	rs1388341388	RCV000665003;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23908654	23908656	13:g.23908654_23908656del	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.9359G>T (p.Arg3120Leu)	26278	SACS	Conflicting interpretations of pathogenicity	rs569955570	RCV000992801\|RCV001274924\|RCV002549811;	N	MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23908656	23908656	13:g.23908656C>A	-
NM_014363.6(SACS):c.9346_9354dup (p.Lys3116_Pro3118dup)	26278	SACS	Conflicting interpretations of pathogenicity	-1	RCV002052090\|RCV002552344;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23908660	23908661	23908660	-
NM_014363.6(SACS):c.9333T>C (p.Asn3111=)	26278	SACS	Benign/Likely benign	rs150532740	RCV000865279\|RCV001087562\|RCV001825723;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23908682	23908682	13:g.23908682A>G	-
NM_014363.6(SACS):c.9305T>A (p.Leu3102Ter)	26278	SACS	Pathogenic	rs886041949	RCV000377502\|RCV000762910\|RCV001379554\|RCV001544509;	N	MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:00100	13	23908710	23908710	NC_000013.10:g.23908710A>T	ClinGen:CA10603290
NM_014363.6(SACS):c.9299C>A (p.Ser3100Tyr)	26278	SACS	Benign/Likely benign	rs150615169	RCV000863931\|RCV001830871\|RCV001847046;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MONDO:MONDO:0019064,MedGen:C00377	13	23908716	23908716	13:g.23908716G>T	-
NM_014363.6(SACS):c.9286G>A (p.Ala3096Thr)	26278	SACS	Uncertain significance	rs1085307569	RCV000489327\|RCV001829396;	N	MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23908729	23908729	NC_000013.10:g.23908729C>T	ClinGen:CA387514775
NM_014363.6(SACS):c.9283C>G (p.Pro3095Ala)	26278	SACS	Conflicting interpretations of pathogenicity	rs201899988	RCV001113534\|RCV002558133;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23908732	23908732	13:g.23908732G>C	-
NM_014363.6(SACS):c.9275A>T (p.Tyr3092Phe)	26278	SACS	Conflicting interpretations of pathogenicity	rs139579036	RCV001212079\|RCV001780126\|RCV001507816;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MedGen:CN517202	13	23908740	23908740	13:g.23908740T>A	-
NM_014363.6(SACS):c.9251T>C (p.Ile3084Thr)	26278	SACS	Conflicting interpretations of pathogenicity	rs149290718	RCV001780177\|RCV001240147\|RCV001507817;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MedGen:CN517202	13	23908764	23908764	13:g.23908764A>G	-
NM_014363.6(SACS):c.9232A>G (p.Asn3078Asp)	26278	SACS	Uncertain significance	rs755698899	RCV001039809\|RCV001274925;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23908783	23908783	13:g.23908783T>C	-
NM_014363.6(SACS):c.9173T>G (p.Leu3058Arg)	26278	SACS	Conflicting interpretations of pathogenicity	rs758654165	RCV000516989\|RCV001829476\|RCV002525076;	N	MedGen:CN169374\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23908842	23908842	NC_000013.10:g.23908842A>C	ClinGen:CA6910654	CN169374 not specified;
NM_014363.6(SACS):c.9128A>G (p.Tyr3043Cys)	26278	SACS	Likely benign	rs761690372	RCV001071021\|RCV001833671;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23908887	23908887	13:g.23908887T>C	-
NM_014363.6(SACS):c.9108A>C (p.Gln3036His)	26278	SACS	Uncertain significance	-1	RCV003142731;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23908907	23908907	NC_000013.10:g.23908907T>G	-
NM_014363.6(SACS):c.9088_9089dup (p.Leu3030fs)	26278	SACS	Pathogenic/Likely pathogenic	rs1057517060	RCV000410750\|RCV002523868;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23908925	23908926	13:g.23908925_23908926insAA	ClinGen:CA16041613	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.9090A>G (p.Leu3030=)	26278	SACS	Likely benign	-1	RCV001411635\|RCV001578943;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23908925	23908925	23908925	-
NM_014363.6(SACS):c.9055A>G (p.Thr3019Ala)	26278	SACS	Uncertain significance	-1	RCV001579253;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23908960	23908960	23908960	-
NM_014363.6(SACS):c.9031A>G (p.Ile3011Val)	26278	SACS	Conflicting interpretations of pathogenicity	rs377657177	RCV000232996\|RCV000295984\|RCV002518350;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MeSH:D030342,MedGen:C0950123	13	23908984	23908984	13:g.23908984T>C	ClinGen:CA6910674	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.8990G>A (p.Arg2997Gln)	26278	SACS	Conflicting interpretations of pathogenicity	rs139670073	RCV000315960\|RCV001411302;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23909025	23909025	NC_000013.10:g.23909025C>T	ClinGen:CA6910682	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.8972G>A (p.Arg2991His)	26278	SACS	Conflicting interpretations of pathogenicity	rs192610957	RCV000518535\|RCV000765119\|RCV001085517\|RCV001644612\|RCV001848898;	N	MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MedGen:CN169374\|M	13	23909043	23909043	13:g.23909043C>T	ClinGen:CA6910684	CN169374 not specified;
NM_014363.6(SACS):c.8971C>T (p.Arg2991Cys)	26278	SACS	Uncertain significance	rs759112797	RCV000517800\|RCV001834673;	N	MedGen:CN169374\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23909044	23909044	13:g.23909044G>A	ClinGen:CA6910685	CN169374 not specified;
NM_014363.6(SACS):c.8958C>T (p.His2986=)	26278	SACS	Conflicting interpretations of pathogenicity	rs758029668	RCV000973863\|RCV001114945;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23909057	23909057	13:g.23909057G>A	-
NM_014363.6(SACS):c.8956C>G (p.His2986Asp)	26278	SACS	Uncertain significance	rs751888795	RCV000674258\|RCV002531348;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23909059	23909059	13:g.23909059G>C	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.8948A>G (p.Asn2983Ser)	26278	SACS	Likely benign	rs200106708	RCV000795635\|RCV001274926;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23909067	23909067	13:g.23909067T>C	-
NM_014363.6(SACS):c.8931A>G (p.Leu2977=)	26278	SACS	Likely benign	rs376228714	RCV000871159\|RCV001278820;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23909084	23909084	13:g.23909084T>C	-
NM_014363.6(SACS):c.8922A>G (p.Leu2974=)	26278	SACS	Benign	rs563864403	RCV000867085\|RCV001273198;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23909093	23909093	13:g.23909093T>C	-
NM_014363.6(SACS):c.8900G>A (p.Arg2967His)	26278	SACS	Likely benign	rs777753707	RCV001244187\|RCV001835199;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23909115	23909115	13:g.23909115C>T	-
NM_014363.6(SACS):c.8889C>A (p.Phe2963Leu)	26278	SACS	Uncertain significance	rs776647599	RCV000992800\|RCV001784524;	N	MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23909126	23909126	13:g.23909126G>T	-
NM_014363.6(SACS):c.8888del (p.Phe2963fs)	26278	SACS	Likely pathogenic	rs1555250872	RCV000669495;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23909127	23909127	13:g.23909127_23909127del	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.8873A>G (p.Lys2958Arg)	26278	SACS	Benign	rs11839380	RCV000173862\|RCV000224353\|RCV001084232\|RCV001274927\|RCV001847804;	N	MedGen:CN169374\|MedGen:CN517202\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|M	13	23909142	23909142	13:g.23909142T>C	UniProtKB:Q9NZJ4#VAR_059719,ClinGen:CA200741	CN517202 not provided;
NM_014363.6(SACS):c.8873del (p.Lys2958fs)	26278	SACS	Likely pathogenic	rs765992922	RCV000409008;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23909142	23909142	NC_000013.10:g.23909143del	ClinGen:CA6910702	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.8867T>A (p.Leu2956Ter)	26278	SACS	Likely pathogenic	rs1057516853	RCV000411855;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23909148	23909148	13:g.23909148A>T	ClinGen:CA16041614	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.8858A>C (p.Lys2953Thr)	26278	SACS	Uncertain significance	rs1868444121	RCV001114946;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23909157	23909157	13:g.23909157T>G	-
NM_014363.6(SACS):c.8853T>C (p.Val2951=)	26278	SACS	Benign/Likely benign	rs9552929	RCV000118234\|RCV000372801\|RCV000676356\|RCV001517095\|RCV001847722;	N	MedGen:CN169374\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MedGen:CN517202\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|M	13	23909162	23909162	13:g.23909162A>G	ClinGen:CA155048	CN517202 not provided;
NM_014363.6(SACS):c.8853T>G (p.Val2951=)	26278	SACS	Conflicting interpretations of pathogenicity	rs9552929	RCV001114947\|RCV001489757;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23909162	23909162	13:g.23909162A>C	-
NM_014363.6(SACS):c.8848_8849dup (p.Val2951fs)	26278	SACS	Likely pathogenic	rs797044608	RCV000194102;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23909165	23909166	13:g.23909165_23909166insTG	ClinGen:CA277260	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.8844del (p.Ile2949fs)	26278	SACS	Pathogenic	rs281865117	RCV000005847\|RCV000338359\|RCV000460039\|RCV001847583;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MedGen:CN517202\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:00190	13	23909171	23909171	13:g.23909171_23909171del	ClinGen:CA340432,OMIM:604490.0001	CN517202 not provided;
NM_014363.6(SACS):c.8836A>G (p.Asn2946Asp)	26278	SACS	Uncertain significance	rs184407783	RCV000516711\|RCV001834672;	N	MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23909179	23909179	NC_000013.10:g.23909179T>C	ClinGen:CA246653925	CN169374 not specified;
NM_014363.6(SACS):c.8802C>T (p.Phe2934=)	26278	SACS	Uncertain significance	rs1868452276	RCV001278821;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23909213	23909213	13:g.23909213G>A	-
NM_014363.6(SACS):c.8799T>C (p.Tyr2933=)	26278	SACS	Likely benign	rs779302353	RCV000866861\|RCV001273199\|RCV001474532;	N	MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23909216	23909216	13:g.23909216A>G	-
NM_014363.6(SACS):c.8793dup (p.Arg2932fs)	26278	SACS	Pathogenic/Likely pathogenic	rs767871841	RCV001233437\|RCV001288377\|RCV001785796\|RCV001847200;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MONDO:MONDO:00190	13	23909221	23909222	13:g.23909221_23909222insT	-
NM_014363.6(SACS):c.8793del (p.Lys2931fs)	26278	SACS	Pathogenic/Likely pathogenic	rs767871841	RCV000519077\|RCV000674417\|RCV000706287;	N	MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23909222	23909222	13:g.23909222_23909222del	ClinGen:CA483160036	CN517202 not provided;
NM_014363.6(SACS):c.8768T>C (p.Val2923Ala)	26278	SACS	Uncertain significance	rs1566062448	RCV001278822;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23909247	23909247	13:g.23909247A>G	-
NM_014363.6(SACS):c.8755G>T (p.Ala2919Ser)	26278	SACS	Uncertain significance	rs886050079	RCV000280553;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23909260	23909260	NC_000013.10:g.23909260C>A	ClinGen:CA10644032	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.8733_8734del (p.Asn2911fs)	26278	SACS	Likely pathogenic	rs1057517020	RCV000409838;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23909281	23909282	13:g.23909281_23909282del	ClinGen:CA16041615	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.8727G>A (p.Trp2909Ter)	26278	SACS	Pathogenic/Likely pathogenic	rs1555250949	RCV000667371\|RCV001855479;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23909288	23909288	13:g.23909288C>T	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.8716C>T (p.Arg2906Ter)	26278	SACS	Pathogenic	rs750732115	RCV001328754\|RCV001386448\|RCV001820019;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MedGen:CN517202	13	23909299	23909299	23909299	-
NM_014363.6(SACS):c.8693G>A (p.Arg2898His)	26278	SACS	Uncertain significance	rs201977288	RCV000530318\|RCV001274928\|RCV002525291;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MeSH:D030342,MedGen:C0950123	13	23909322	23909322	13:g.23909322C>T	ClinGen:CA6910731	C0037772 Spastic paraplegia;
NM_014363.6(SACS):c.8647G>A (p.Val2883Met)	26278	SACS	Uncertain significance	-1	RCV003142732;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23909368	23909368	NC_000013.10:g.23909368C>T	-
NM_014363.6(SACS):c.8621_8624del (p.Ser2874fs)	26278	SACS	Pathogenic/Likely pathogenic	rs753012964	RCV000409386\|RCV001861390;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23909391	23909394	NC_000013.10:g.23909392AAGA[1]	ClinGen:CA6910739	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.8612dup (p.Leu2871fs)	26278	SACS	Likely pathogenic	rs1057517212	RCV000411570;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23909402	23909403	13:g.23909402_23909403insA	ClinGen:CA16041616	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.8596A>G (p.Arg2866Gly)	26278	SACS	Uncertain significance	rs1868466055	RCV001198520;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23909419	23909419	13:g.23909419T>C	-
NM_014363.6(SACS):c.8589dup (p.Pro2864fs)	26278	SACS	Likely pathogenic	rs1555250987	RCV000669195;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23909425	23909426	13:g.23909425_23909426insT	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.8579A>G (p.Asn2860Ser)	26278	SACS	Conflicting interpretations of pathogenicity	rs201294520	RCV000625698\|RCV001439415\|RCV001848999;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0019064,MedGen:C00377	13	23909436	23909436	13:g.23909436T>C	ClinGen:CA6910745	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.8577C>T (p.His2859=)	26278	SACS	Conflicting interpretations of pathogenicity	rs140016265	RCV000338040\|RCV000676357\|RCV001088324;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MedGen:CN517202\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23909438	23909438	NC_000013.10:g.23909438G>A	ClinGen:CA6910746	CN517202 not provided;
NM_014363.6(SACS):c.8574_8577del (p.His2859fs)	26278	SACS	Likely pathogenic	rs1555250991	RCV000667339;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23909438	23909441	13:g.23909438_23909441del	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.8542_8543del (p.Phe2848fs)	26278	SACS	Pathogenic/Likely pathogenic	rs876657721	RCV000218042\|RCV000824756;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MONDO:MONDO:0017847,MedGen:CN279276, Orphanet:316240	13	23909472	23909473	NC_000013.10:g.23909474_23909475del	ClinGen:CA10576938	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.8539C>G (p.Leu2847Val)	26278	SACS	Conflicting interpretations of pathogenicity	rs760976439	RCV000712992\|RCV000800081\|RCV001276935;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23909476	23909476	NC_000013.10:g.23909476G>C	-
NM_014363.6(SACS):c.8512_8514del (p.Ser2838del)	26278	SACS	Uncertain significance	rs1555251001	RCV000669788;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23909501	23909503	13:g.23909501_23909503del	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.8504G>A (p.Ser2835Asn)	26278	SACS	Uncertain significance	rs1382975968	RCV000803737\|RCV001830738;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23909511	23909511	13:g.23909511C>T	-
NM_014363.6(SACS):c.8497_8500del (p.Ser2833fs)	26278	SACS	Likely pathogenic	rs1555251007	RCV000673644;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23909515	23909518	13:g.23909515_23909518del	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.8487G>A (p.Met2829Ile)	26278	SACS	not provided	rs1566062847	RCV000709971;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23909528	23909528	NC_000013.10:g.23909528C>T	-
NM_014363.6(SACS):c.8482A>G (p.Ser2828Gly)	26278	SACS	Likely benign	rs9552930	RCV000865117\|RCV001273200;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23909533	23909533	13:g.23909533T>C	-
NM_014363.6(SACS):c.8480C>A (p.Ser2827Ter)	26278	SACS	Likely pathogenic	rs1555251015	RCV000667851;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23909535	23909535	13:g.23909535G>T	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.8414C>T (p.Thr2805Ile)	26278	SACS	Conflicting interpretations of pathogenicity	rs772742353	RCV000173861\|RCV000658671\|RCV001276936\|RCV001852116;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23909601	23909601	13:g.23909601G>A	ClinGen:CA239316	CN517202 not provided;
NM_014363.6(SACS):c.8393C>A (p.Pro2798Gln)	26278	SACS	Conflicting interpretations of pathogenicity	rs140551762	RCV000194652\|RCV000230214\|RCV000513770\|RCV001847873\|RCV001815246;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MedGen:CN517202\|MONDO:MONDO:00190	13	23909622	23909622	13:g.23909622G>T	ClinGen:CA277355,UniProtKB:Q9NZJ4#VAR_064814	CN517202 not provided;
NM_014363.6(SACS):c.8379G>A (p.Gln2793=)	26278	SACS	Conflicting interpretations of pathogenicity	rs776028181	RCV000390354\|RCV002056364;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23909636	23909636	NC_000013.10:g.23909636C>T	ClinGen:CA6910769	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.8377C>T (p.Gln2793Ter)	26278	SACS	Pathogenic/Likely pathogenic	rs1240368715	RCV000674504\|RCV002532164;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23909638	23909638	13:g.23909638G>A	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.8356G>C (p.Asp2786His)	26278	SACS	Uncertain significance	rs753607639	RCV000516762\|RCV001834671\|RCV002525075;	N	MedGen:CN169374\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23909659	23909659	NC_000013.10:g.23909659C>G	ClinGen:CA6910775	CN169374 not specified;
NM_014363.6(SACS):c.8345C>T (p.Ala2782Val)	26278	SACS	Benign/Likely benign	rs61742500	RCV000249301\|RCV000957157\|RCV001109309\|RCV001547216\|RCV001848030;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MedGen:CN517202\|M	13	23909670	23909670	NC_000013.10:g.23909670G>A	ClinGen:CA6910777	CN169374 not specified;
NM_014363.6(SACS):c.8344G>A (p.Ala2782Thr)	26278	SACS	Benign/Likely benign	rs61742502	RCV000224587\|RCV001082218\|RCV001109310\|RCV001847947;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MONDO:MONDO:00190	13	23909671	23909671	13:g.23909671C>T	ClinGen:CA6910778	CN517202 not provided;
NM_014363.6(SACS):c.8341C>G (p.His2781Asp)	26278	SACS	Uncertain significance	rs886050080	RCV000283923;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23909674	23909674	NC_000013.10:g.23909674G>C	ClinGen:CA10643112	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.8339T>G (p.Phe2780Cys)	26278	SACS	Conflicting interpretations of pathogenicity	rs111540787	RCV000341299\|RCV000676358\|RCV001083821\|RCV001847977\|RCV002222460;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MedGen:CN517202\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:00190	13	23909676	23909676	13:g.23909676A>C	ClinGen:CA6910780	CN517202 not provided;
NM_014363.6(SACS):c.8336A>T (p.Gln2779Leu)	26278	SACS	Conflicting interpretations of pathogenicity	-1	RCV001448702\|RCV001507818\|RCV001780384;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23909679	23909679	23909679	-
NM_014363.6(SACS):c.8315G>C (p.Gly2772Ala)	26278	SACS	Conflicting interpretations of pathogenicity	rs763504656	RCV000516833\|RCV000765120\|RCV002525074;	N	MedGen:CN169374\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23909700	23909700	NC_000013.10:g.23909700C>G	ClinGen:CA6910788	CN169374 not specified;
NM_014363.6(SACS):c.8305dup (p.Ile2769fs)	26278	SACS	Likely pathogenic	rs1279988199	RCV000665991;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23909709	23909710	13:g.23909709_23909710insT	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.8281G>A (p.Val2761Met)	26278	SACS	Uncertain significance	rs372119773	RCV001244439\|RCV001829930;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23909734	23909734	13:g.23909734C>T	-
NM_014363.6(SACS):c.8245A>G (p.Ile2749Val)	26278	SACS	Conflicting interpretations of pathogenicity	rs186436335	RCV000473308\|RCV000594324\|RCV000765121\|RCV001848817;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MONDO:MONDO:00190	13	23909770	23909770	NC_000013.10:g.23909770T>C	ClinGen:CA6910801	CN169374 not specified;
NM_014363.6(SACS):c.8233G>A (p.Glu2745Lys)	26278	SACS	Uncertain significance	rs745462710	RCV001287919\|RCV001830094;	N	MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23909782	23909782	23909782	-
NM_014363.6(SACS):c.8227del (p.His2743fs)	26278	SACS	Pathogenic	-1	RCV001391625;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23909788	23909788	23909787	-
NM_014363.6(SACS):c.8221del (p.Asn2742fs)	26278	SACS	Likely pathogenic	rs1555251151	RCV000666128;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23909794	23909794	13:g.23909794_23909794del	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.8192G>A (p.Arg2731His)	26278	SACS	Conflicting interpretations of pathogenicity	rs201127191	RCV001287918\|RCV001328753\|RCV002537966;	N	MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23909823	23909823	23909823	-
NM_014363.6(SACS):c.8191C>T (p.Arg2731Cys)	26278	SACS	Conflicting interpretations of pathogenicity	rs772072343	RCV001111635\|RCV002558116;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23909824	23909824	13:g.23909824G>A	-
NM_014363.6(SACS):c.8142G>A (p.Ser2714=)	26278	SACS	Conflicting interpretations of pathogenicity	rs530250252	RCV000598079\|RCV001468357\|RCV001783101;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23909873	23909873	13:g.23909873C>T	ClinGen:CA6910815	CN169374 not specified;
NM_014363.6(SACS):c.8133G>A (p.Ser2711=)	26278	SACS	Conflicting interpretations of pathogenicity	rs143386746	RCV000173859\|RCV001087614\|RCV001273201;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23909882	23909882	13:g.23909882C>T	ClinGen:CA239312	CN169374 not specified;
NM_014363.6(SACS):c.8132C>A (p.Ser2711Ter)	26278	SACS	Pathogenic	-1	RCV001421041;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23909883	23909883	23909883	-
NM_014363.6(SACS):c.8108G>A (p.Arg2703His)	26278	SACS	Conflicting interpretations of pathogenicity	rs750181262	RCV000668456\|RCV001576889\|RCV001868222;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MedGen:CN517202\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23909907	23909907	13:g.23909907C>T	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.8056C>T (p.Leu2686=)	26278	SACS	Conflicting interpretations of pathogenicity	rs748595405	RCV000401979\|RCV002520864;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23909959	23909959	NC_000013.10:g.23909959G>A	ClinGen:CA10643113	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.8029C>T (p.Gln2677Ter)	26278	SACS	Likely pathogenic	rs1555251241	RCV000667379;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23909986	23909986	13:g.23909986G>A	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.8022T>C (p.Phe2674=)	26278	SACS	Conflicting interpretations of pathogenicity	rs34928783	RCV000512830\|RCV001085541\|RCV001111636\|RCV001848058;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MONDO:MONDO:00190	13	23909993	23909993	13:g.23909993A>G	ClinGen:CA6910829	CN517202 not provided;
NM_014363.6(SACS):c.8022T>G (p.Phe2674Leu)	26278	SACS	Conflicting interpretations of pathogenicity	rs34928783	RCV000306392\|RCV000516257\|RCV001477679;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MedGen:CN169374\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23909993	23909993	NC_000013.10:g.23909993A>C	ClinGen:CA6910830	CN169374 not specified;
NM_014363.6(SACS):c.8009dup (p.Leu2670fs)	26278	SACS	Likely pathogenic	-1	RCV002283632;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23910005	23910006	23910005	-
NM_014363.6(SACS):c.8009del (p.Leu2670fs)	26278	SACS	Likely pathogenic	rs1555251254	RCV000669250;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23910006	23910006	13:g.23910006_23910006del	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.7991G>T (p.Gly2664Val)	26278	SACS	Likely pathogenic	rs1060499656	RCV000449537;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23910024	23910024	NC_000013.10:g.23910024C>A	ClinGen:CA16609396	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.7988C>T (p.Pro2663Leu)	26278	SACS	Uncertain significance	rs377626385	RCV001111637\|RCV001847158\|RCV002558117;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685\|MeSH:D030342,MedGen:C0950123	13	23910027	23910027	13:g.23910027G>A	-
NM_014363.6(SACS):c.7981A>G (p.Ile2661Val)	26278	SACS	Uncertain significance	rs1269342975	RCV000556409\|RCV001829568;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23910034	23910034	13:g.23910034T>C	ClinGen:CA387517648	C0037772 Spastic paraplegia;
NM_014363.6(SACS):c.7915_7920del (p.Ile2639_Ser2640del)	26278	SACS	Uncertain significance	rs1555251289	RCV000668818;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23910095	23910100	13:g.23910095_23910100del	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.7916T>C (p.Ile2639Thr)	26278	SACS	Uncertain significance	-1	RCV001663562\|RCV001832846;	N	MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23910099	23910099	23910099	-
NM_014363.6(SACS):c.7903del (p.Cys2635fs)	26278	SACS	Pathogenic/Likely pathogenic	rs1028098148	RCV000668512\|RCV002532073;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23910112	23910112	13:g.23910112_23910112del	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.7868del (p.Gly2623fs)	26278	SACS	Likely pathogenic	rs1555251301	RCV000671528;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23910147	23910147	13:g.23910147_23910147del	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.7861C>T (p.Gln2621Ter)	26278	SACS	Likely pathogenic	rs1057517014	RCV000408978;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23910154	23910154	13:g.23910154G>A	ClinGen:CA16041617	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.7857T>C (p.Thr2619=)	26278	SACS	Uncertain significance	rs886050081	RCV000364237;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23910158	23910158	NC_000013.10:g.23910158A>G	ClinGen:CA10644034	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.7844del (p.Asn2615fs)	26278	SACS	Pathogenic/Likely pathogenic	rs758572409	RCV000409571\|RCV001218622;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23910171	23910171	13:g.23910171_23910171del	ClinGen:CA6910857	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.7833G>A (p.Thr2611=)	26278	SACS	Likely benign	rs1237743096	RCV000873051\|RCV001273202\|RCV001664513;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MedGen:CN169374	13	23910182	23910182	13:g.23910182C>T	-
NM_014363.6(SACS):c.7817A>G (p.Asn2606Ser)	26278	SACS	Uncertain significance	rs1191066514	RCV001111638;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23910198	23910198	13:g.23910198T>C	-
NM_014363.6(SACS):c.7812T>C (p.Ile2604=)	26278	SACS	Likely benign	rs1593127031	RCV000867494\|RCV001273203;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23910203	23910203	13:g.23910203A>G	-
NM_014363.6(SACS):c.7796ATG[1] (p.Asp2600del)	26278	SACS	Uncertain significance	rs1555251315	RCV000671465;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23910214	23910216	13:g.23910214_23910216del	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.7795G>C (p.Asp2599His)	26278	SACS	Uncertain significance	-1	RCV001578941;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23910220	23910220	23910220	-
NM_014363.6(SACS):c.7788del (p.Phe2596fs)	26278	SACS	Pathogenic/Likely pathogenic	rs1057516959	RCV000409944\|RCV001388052;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23910227	23910227	13:g.23910227_23910227del	ClinGen:CA16041618	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.7742C>T (p.Ala2581Val)	26278	SACS	Uncertain significance	rs866333277	RCV000995034\|RCV001111639\|RCV002550670;	N	MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23910273	23910273	13:g.23910273G>A	-
NM_014363.6(SACS):c.7725A>T (p.Ile2575=)	26278	SACS	Conflicting interpretations of pathogenicity	rs200735789	RCV000862794\|RCV001080113\|RCV001112099\|RCV002510993;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MedGen:CN517202	13	23910290	23910290	13:g.23910290T>A	-
NM_014363.6(SACS):c.7713A>T (p.Pro2571=)	26278	SACS	Conflicting interpretations of pathogenicity	rs557113294	RCV000406766\|RCV002056365;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23910302	23910302	NC_000013.10:g.23910302T>A	ClinGen:CA6910868	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.7697A>G (p.Asp2566Gly)	26278	SACS	Uncertain significance	rs1868573738	RCV001262393;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23910318	23910318	13:g.23910318T>C	-
NM_014363.6(SACS):c.7647T>G (p.Leu2549=)	26278	SACS	Conflicting interpretations of pathogenicity	rs186301471	RCV000310623\|RCV000865836\|RCV001848098;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0019064,MedGen:C00377	13	23910368	23910368	NC_000013.10:g.23910368A>C	ClinGen:CA6910879	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.7614A>C (p.Ala2538=)	26278	SACS	Conflicting interpretations of pathogenicity	rs142697365	RCV001112100\|RCV001454999;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23910401	23910401	13:g.23910401T>G	-
NM_014363.6(SACS):c.7601G>A (p.Ser2534Asn)	26278	SACS	Conflicting interpretations of pathogenicity	rs750491874	RCV001112101\|RCV002556188;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23910414	23910414	13:g.23910414C>T	-
NM_014363.6(SACS):c.7583T>G (p.Leu2528Trp)	26278	SACS	Uncertain significance	-1	RCV001823469;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23910432	23910432	23910432	-
NM_014363.6(SACS):c.7576_7579del (p.Glu2526fs)	26278	SACS	Likely pathogenic	-1	RCV002226971;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23910436	23910439	23910435	-
NM_014363.6(SACS):c.7535A>G (p.Asn2512Ser)	26278	SACS	Uncertain significance	rs777424692	RCV000367674;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23910480	23910480	NC_000013.10:g.23910480T>C	ClinGen:CA6910890	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.7528G>A (p.Ala2510Thr)	26278	SACS	Conflicting interpretations of pathogenicity	rs111920492	RCV000243536\|RCV000710207\|RCV001082626\|RCV001112102\|RCV001848029;	N	MedGen:CN169374\|MedGen:CN517202\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|M	13	23910487	23910487	13:g.23910487C>T	ClinGen:CA6910891	CN169374 not specified;
NM_014363.6(SACS):c.7527T>C (p.Tyr2509=)	26278	SACS	Conflicting interpretations of pathogenicity	rs140034972	RCV000275588\|RCV001083438\|RCV000712990\|RCV001725163;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MedGen:CN169374\|MedGen:CN517202	13	23910488	23910488	NC_000013.10:g.23910488A>G	ClinGen:CA6910892	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.7527T>G (p.Tyr2509Ter)	26278	SACS	Likely pathogenic	rs140034972	RCV000665439;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23910488	23910488	13:g.23910488A>C	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.7521_7524del (p.Glu2507fs)	26278	SACS	Pathogenic/Likely pathogenic	rs1057516438	RCV000410665\|RCV002524619;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23910491	23910494	NC_000013.10:g.23910494_23910497del	ClinGen:CA16041619	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.7504C>T (p.Arg2502Ter)	26278	SACS	Pathogenic	rs281865118	RCV000005848\|RCV001268308\|RCV001847584\|RCV001851681;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MedGen:CN517202\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human	13	23910511	23910511	13:g.23910511G>A	ClinGen:CA340433,OMIM:604490.0002,ClinVar:691950	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.7494_7504del (p.Val2499fs)	26278	SACS	Likely pathogenic	rs1057517451	RCV000410317;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23910511	23910521	NC_000013.10:g.23910514_23910524del	ClinGen:CA16041620	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.7497C>T (p.Val2499=)	26278	SACS	Conflicting interpretations of pathogenicity	rs774558627	RCV000873350\|RCV001115052;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23910518	23910518	13:g.23910518G>A	-
NM_014363.6(SACS):c.7448_7456del (p.Tyr2483_Ala2486delinsSer)	26278	SACS	Uncertain significance	rs1555251416	RCV000666850;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23910559	23910567	13:g.23910559_23910567del	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.7454A>T (p.His2485Leu)	26278	SACS	Uncertain significance	rs1420170258	RCV001115053;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23910561	23910561	13:g.23910561T>A	-
NM_014363.6(SACS):c.7448A>G (p.Tyr2483Cys)	26278	SACS	Uncertain significance	-1	RCV001579249;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23910567	23910567	23910567	-
NM_014363.6(SACS):c.7436_7443dup (p.Lys2482delinsProLeuTer)	26278	SACS	Likely pathogenic	rs1555251421	RCV000666291;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23910571	23910572	13:g.23910571_23910572insTACAGTGG	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.7418_7419delinsTTT (p.Trp2473fs)	26278	SACS	Likely pathogenic	rs1555251428	RCV000668806;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23910596	23910597	13:g.23910596_23910597insAA	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.7406A>G (p.Asn2469Ser)	26278	SACS	Uncertain significance	rs1288769278	RCV001287915\|RCV001830093;	N	MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23910609	23910609	23910609	-
NM_014363.6(SACS):c.7394C>A (p.Ser2465Ter)	26278	SACS	Likely pathogenic	rs747676277	RCV000411674;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23910621	23910621	13:g.23910621G>T	ClinGen:CA16041621	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.7394C>T (p.Ser2465Leu)	26278	SACS	Conflicting interpretations of pathogenicity	rs747676277	RCV001115054\|RCV001269831\|RCV001247856\|RCV001847161;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MedGen:CN517202\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:00190	13	23910621	23910621	13:g.23910621G>A	-
NM_014363.6(SACS):c.7384C>T (p.Pro2462Ser)	26278	SACS	Benign/Likely benign	rs78239814	RCV000676359\|RCV001085314\|RCV001275188;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23910631	23910631	NC_000013.10:g.23910631G>A	ClinGen:CA6910916	CN517202 not provided;
NM_014363.6(SACS):c.7376T>C (p.Met2459Thr)	26278	SACS	Conflicting interpretations of pathogenicity	rs767864000	RCV001115055\|RCV002556257;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23910639	23910639	13:g.23910639A>G	-
NM_014363.6(SACS):c.7354T>C (p.Leu2452=)	26278	SACS	Likely benign	rs761258047	RCV000868843\|RCV001278823;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23910661	23910661	13:g.23910661A>G	-
NM_014363.6(SACS):c.7282A>G (p.Ile2428Val)	26278	SACS	Conflicting interpretations of pathogenicity	rs1007936574	RCV000712989\|RCV001784353\|RCV002534516;	N	MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23910733	23910733	NC_000013.10:g.23910733T>C	-
NM_014363.6(SACS):c.7276C>T (p.Arg2426Ter)	26278	SACS	Pathogenic/Likely pathogenic	rs786204750	RCV000169603\|RCV000734960\|RCV001850407;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MedGen:CN517202\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23910739	23910739	NC_000013.10:g.23910739G>A	ClinGen:CA274458,ClinVar:424796	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.7274G>C (p.Arg2425Pro)	26278	SACS	Pathogenic	-1	RCV001391624;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23910741	23910741	23910741	-
NM_014363.6(SACS):c.7273C>T (p.Arg2425Ter)	26278	SACS	Pathogenic/Likely pathogenic	rs145766983	RCV000412060\|RCV000599123\|RCV000704868;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MedGen:CN517202\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23910742	23910742	13:g.23910742G>A	ClinGen:CA6910940	CN517202 not provided;
NM_014363.6(SACS):c.7262T>A (p.Phe2421Tyr)	26278	SACS	Uncertain significance	rs1213144547	RCV000992798\|RCV001276937;	N	MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23910753	23910753	13:g.23910753A>T	-
NM_014363.6(SACS):c.7221_7224dup (p.Gln2409Ter)	26278	SACS	Likely pathogenic	rs1555251514	RCV000664967;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23910790	23910791	13:g.23910790_23910791insATCA	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.7222G>A (p.Asp2408Asn)	26278	SACS	Uncertain significance	-1	RCV003142729;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23910793	23910793	NC_000013.10:g.23910793C>T	-
NM_014363.6(SACS):c.7207G>C (p.Val2403Leu)	26278	SACS	Uncertain significance	rs779973547	RCV001341618\|RCV001836330;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23910808	23910808	23910808	-
NM_014363.6(SACS):c.7205_7206del (p.Leu2402fs)	26278	SACS	Pathogenic	rs773182375	RCV000531534\|RCV001835847;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23910809	23910810	13:g.23910809_23910810del	ClinGen:CA6910949	C0037772 Spastic paraplegia;
NM_014363.6(SACS):c.7200T>C (p.Phe2400=)	26278	SACS	Conflicting interpretations of pathogenicity	rs148544893	RCV000863351\|RCV001115056\|RCV001849169;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MONDO:MONDO:0019064,MedGen:C00377	13	23910815	23910815	13:g.23910815A>G	-
NM_014363.6(SACS):c.7171G>A (p.Val2391Met)	26278	SACS	Uncertain significance	rs760087813	RCV000712988\|RCV001825426;	N	MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23910844	23910844	NC_000013.10:g.23910844C>T	-
NM_014363.6(SACS):c.7169G>A (p.Gly2390Asp)	26278	SACS	Uncertain significance	-1	RCV001579251;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23910846	23910846	23910846	-
NM_014363.6(SACS):c.7165G>A (p.Val2389Met)	26278	SACS	Conflicting interpretations of pathogenicity	rs142869943	RCV000332938\|RCV000863318\|RCV001287913;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MedGen:CN169374	13	23910850	23910850	NC_000013.10:g.23910850C>T	ClinGen:CA6910961	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.7162_7163del (p.Thr2388fs)	26278	SACS	Pathogenic/Likely pathogenic	rs1555251539	RCV000516377\|RCV001785652\|RCV001857925;	N	MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23910852	23910853	NC_000013.10:g.23910852_23910853del	ClinGen:CA658658232	CN517202 not provided;
NM_014363.6(SACS):c.7150G>A (p.Glu2384Lys)	26278	SACS	Conflicting interpretations of pathogenicity	rs762896797	RCV000995035\|RCV001115057\|RCV001242408\|RCV001847126;	N	MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:00190	13	23910865	23910865	13:g.23910865C>T	-
NM_014363.6(SACS):c.7149C>T (p.Arg2383=)	26278	SACS	Benign/Likely benign	rs17078608	RCV000676361\|RCV001079334\|RCV001115058\|RCV001287912\|RCV001848924;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MedGen:CN169374\|M	13	23910866	23910866	13:g.23910866G>A	ClinGen:CA6910964	CN517202 not provided;
NM_014363.6(SACS):c.7147C>T (p.Arg2383Cys)	26278	SACS	Conflicting interpretations of pathogenicity	rs772611372	RCV001109416\|RCV002556142;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23910868	23910868	13:g.23910868G>A	-
NM_014363.6(SACS):c.7140T>A (p.Asn2380Lys)	26278	SACS	Conflicting interpretations of pathogenicity	rs61754478	RCV000338875\|RCV000725615\|RCV001079763\|RCV001109417\|RCV002519175;	N	MedGen:CN169374\|MedGen:CN517202\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|M	13	23910875	23910875	13:g.23910875A>T	ClinGen:CA6910967	CN169374 not specified;
NM_014363.6(SACS):c.7139del (p.Asn2380fs)	26278	SACS	Pathogenic/Likely pathogenic	rs1057516689	RCV000408983\|RCV000622821\|RCV001051132;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MeSH:D030342,MedGen:C0950123\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23910876	23910876	NC_000013.10:g.23910880del	ClinGen:CA16041622	C0950123 Inborn genetic diseases;
NM_014363.6(SACS):c.7114dup (p.Tyr2372fs)	26278	SACS	Likely pathogenic	rs1057517222	RCV000412481;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23910900	23910901	NC_000013.10:g.23910903dup	ClinGen:CA16041623	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.7110C>A (p.Tyr2370Ter)	26278	SACS	Likely pathogenic	rs1555251553	RCV000674868;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23910905	23910905	13:g.23910905G>T	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.7110C>G (p.Tyr2370Ter)	26278	SACS	Pathogenic	-1	RCV001784933;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23910905	23910905	23910905	-
NM_014363.6(SACS):c.7101G>A (p.Ala2367=)	26278	SACS	Conflicting interpretations of pathogenicity	rs764702321	RCV000868084\|RCV001109418;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23910914	23910914	13:g.23910914C>T	-
NM_014363.6(SACS):c.7100C>T (p.Ala2367Val)	26278	SACS	Conflicting interpretations of pathogenicity	rs752273313	RCV000690739\|RCV001275189\|RCV002547157;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MeSH:D030342,MedGen:C0950123	13	23910915	23910915	13:g.23910915G>A	-	C0037772 Spastic paraplegia;
NM_014363.6(SACS):c.7079_7081del (p.Ser2360del)	26278	SACS	Uncertain significance	rs1555251573	RCV000666881;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23910934	23910936	13:g.23910934_23910936del	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.6993A>T (p.Glu2331Asp)	26278	SACS	Uncertain significance	rs759201960	RCV000712987\|RCV001825425;	N	MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23911022	23911022	NC_000013.10:g.23911022T>A	-
NM_014363.6(SACS):c.6952G>A (p.Ala2318Thr)	26278	SACS	Conflicting interpretations of pathogenicity	rs147949881	RCV000371368\|RCV000712986\|RCV001247269\|RCV001642968\|RCV001848099\|RCV002520865;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MedGen:CN517202\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|Human Phenotype O	13	23911063	23911063	NC_000013.10:g.23911063C>T	ClinGen:CA6910993	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.6941A>C (p.Asn2314Thr)	26278	SACS	Uncertain significance	rs1868664491	RCV001328752;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23911074	23911074	23911074	-
NM_014363.6(SACS):c.6919G>T (p.Gly2307Ter)	26278	SACS	Likely pathogenic	rs1555251615	RCV000668288;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23911096	23911096	13:g.23911096C>A	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.6856AAG[1] (p.Lys2287del)	26278	SACS	Uncertain significance	rs1555251633	RCV000670787;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23911154	23911156	13:g.23911154_23911156del	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.6859A>C (p.Lys2287Gln)	26278	SACS	Uncertain significance	rs1397588851	RCV000712984\|RCV001830586;	N	MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23911156	23911156	NC_000013.10:g.23911156T>G	-
NM_014363.6(SACS):c.6857A>G (p.Lys2286Arg)	26278	SACS	Uncertain significance	rs754381972	RCV000791527\|RCV001275190;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23911158	23911158	13:g.23911158T>C	-
NM_014363.6(SACS):c.6844T>C (p.Leu2282=)	26278	SACS	Uncertain significance	rs1868678889	RCV001278824;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23911171	23911171	13:g.23911171A>G	-
NM_014363.6(SACS):c.6837dup (p.Glu2280fs)	26278	SACS	Pathogenic	-1	RCV001806843;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23911177	23911178	23911177	-
NM_014363.6(SACS):c.6804del (p.Phe2268fs)	26278	SACS	Likely pathogenic	rs1057517301	RCV000411394;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23911211	23911211	13:g.23911211_23911211del	ClinGen:CA16041624	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.6800_6802del (p.Ser2267del)	26278	SACS	Uncertain significance	rs1555251650	RCV000673088;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23911213	23911215	13:g.23911213_23911215del	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.6767_6794del (p.Leu2256fs)	26278	SACS	Likely pathogenic	-1	RCV001783708;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23911221	23911248	23911220	-
NM_014363.6(SACS):c.6781C>A (p.Leu2261Ile)	26278	SACS	Conflicting interpretations of pathogenicity	rs146722795	RCV000260358\|RCV000516875\|RCV001081244\|RCV001847976;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MedGen:CN517202\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:00190	13	23911234	23911234	13:g.23911234G>T	ClinGen:CA6911032	CN169374 not specified;
NM_014363.6(SACS):c.6778A>G (p.Ile2260Val)	26278	SACS	Conflicting interpretations of pathogenicity	rs202110208	RCV001287910\|RCV001830092\|RCV002537965;	N	MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23911237	23911237	23911237	-
NM_014363.6(SACS):c.6776C>T (p.Pro2259Leu)	26278	SACS	Uncertain significance	rs150098233	RCV000992796\|RCV001275191;	N	MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23911239	23911239	13:g.23911239G>A	-
NM_014363.6(SACS):c.6757dup (p.Ile2253fs)	26278	SACS	Likely pathogenic	rs1057516932	RCV000409610;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23911257	23911258	NC_000013.10:g.23911258dup	ClinGen:CA16041625	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.6754G>T (p.Asp2252Tyr)	26278	SACS	Uncertain significance	rs886050082	RCV000317355;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23911261	23911261	NC_000013.10:g.23911261C>A	ClinGen:CA10639231	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.6740C>G (p.Thr2247Arg)	26278	SACS	Uncertain significance	-1	RCV001578935;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23911275	23911275	23911275	-
NM_014363.6(SACS):c.6702T>A (p.Phe2234Leu)	26278	SACS	Uncertain significance	rs774487714	RCV001287908\|RCV001835367\|RCV002537964;	N	MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23911313	23911313	23911313	-
NM_014363.6(SACS):c.6665CAG[1] (p.Ala2223del)	26278	SACS	Uncertain significance	rs1555251695	RCV000674439;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23911345	23911347	13:g.23911345_23911347del	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.6663del (p.Lys2221fs)	26278	SACS	Pathogenic/Likely pathogenic	rs1555251699	RCV000666605\|RCV001849038;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685	13	23911352	23911352	13:g.23911352_23911352del	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.6650C>A (p.Pro2217Gln)	26278	SACS	Pathogenic/Likely pathogenic	-1	RCV001391623\|RCV001880217;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23911365	23911365	23911365	-
NM_014363.6(SACS):c.6643T>C (p.Phe2215Leu)	26278	SACS	Uncertain significance	rs886050083	RCV000374343;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23911372	23911372	NC_000013.10:g.23911372A>G	ClinGen:CA10634039	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.6640C>T (p.Arg2214Cys)	26278	SACS	Conflicting interpretations of pathogenicity	rs138379074	RCV000538701\|RCV000765122\|RCV002528313;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MeSH:D030342,MedGen:C0950123	13	23911375	23911375	13:g.23911375G>A	ClinGen:CA6911049	C0037772 Spastic paraplegia;
NM_014363.6(SACS):c.6634A>G (p.Thr2212Ala)	26278	SACS	Conflicting interpretations of pathogenicity	rs556248979	RCV000282675\|RCV000691162\|RCV002520866;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MeSH:D030342,MedGen:C0950123	13	23911381	23911381	NC_000013.10:g.23911381T>C	ClinGen:CA6911051	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.6632A>G (p.Gln2211Arg)	26278	SACS	Uncertain significance	rs1044714793	RCV001287907\|RCV001830091;	N	MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23911383	23911383	23911383	-
NM_014363.6(SACS):c.6593T>C (p.Ile2198Thr)	26278	SACS	Likely benign	rs754906806	RCV000532956\|RCV001834758;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23911422	23911422	13:g.23911422A>G	ClinGen:CA6911056	C0037772 Spastic paraplegia;
NM_014363.6(SACS):c.6592_6593insAAAAAAAAA (p.Lys2197_Ile2198insLysLysLys)	26278	SACS	Uncertain significance	rs1555251719	RCV000672445;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23911422	23911423	13:g.23911422_23911423insTTTTTTTTT	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.6577G>A (p.Asp2193Asn)	26278	SACS	Conflicting interpretations of pathogenicity	rs149278134	RCV000321278\|RCV002522276;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23911438	23911438	NC_000013.10:g.23911438C>T	ClinGen:CA6911059	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.6561C>T (p.Ile2187=)	26278	SACS	Conflicting interpretations of pathogenicity	rs143477126	RCV000378234\|RCV000863703;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23911454	23911454	NC_000013.10:g.23911454G>A	ClinGen:CA6911064	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.6518T>C (p.Ile2173Thr)	26278	SACS	Conflicting interpretations of pathogenicity	rs368624188	RCV000992795\|RCV001111735\|RCV001245042;	N	MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23911497	23911497	13:g.23911497A>G	-
NM_014363.6(SACS):c.6496C>T (p.Arg2166Cys)	26278	SACS	Uncertain significance	rs764516788	RCV001300358\|RCV001835432;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23911519	23911519	23911519	-
NM_014363.6(SACS):c.6485A>G (p.Asp2162Gly)	26278	SACS	Uncertain significance	rs369388933	RCV000519608\|RCV001829518;	N	MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23911530	23911530	NC_000013.10:g.23911530T>C	ClinGen:CA6911075
NM_014363.6(SACS):c.6466GAT[1] (p.Asp2157del)	26278	SACS	Uncertain significance	rs1204242892	RCV000674356;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23911544	23911546	13:g.23911544_23911546del	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.6448_6452del (p.Gln2150fs)	26278	SACS	Pathogenic/Likely pathogenic	rs1057516635	RCV000411320\|RCV001245824;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23911563	23911567	NC_000013.10:g.23911567_23911571del	ClinGen:CA16041626	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.6451T>G (p.Leu2151Val)	26278	SACS	Uncertain significance	rs886050084	RCV000286135;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23911564	23911564	13:g.23911564A>C	ClinGen:CA10639233	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.6436A>G (p.Ile2146Val)	26278	SACS	Uncertain significance	rs1415663565	RCV000538763\|RCV001829567;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23911579	23911579	13:g.23911579T>C	ClinGen:CA387521847	C0037772 Spastic paraplegia;
NM_014363.6(SACS):c.6434T>A (p.Leu2145Ter)	26278	SACS	Pathogenic	rs770490672	RCV000850593\|RCV001386982;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23911581	23911581	13:g.23911581A>T	-
NM_014363.6(SACS):c.6409C>T (p.Gln2137Ter)	26278	SACS	Likely pathogenic	rs201690040	RCV000666608;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23911606	23911606	13:g.23911606G>A	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.6409C>G (p.Gln2137Glu)	26278	SACS	Conflicting interpretations of pathogenicity	rs201690040	RCV000804057\|RCV001830740;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23911606	23911606	13:g.23911606G>C	-
NM_014363.6(SACS):c.6406A>T (p.Thr2136Ser)	26278	SACS	Uncertain significance	rs1566066009	RCV000712981\|RCV001830585;	N	MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23911609	23911609	NC_000013.10:g.23911609T>A	-
NM_014363.6(SACS):c.6364A>G (p.Lys2122Glu)	26278	SACS	Uncertain significance	rs755723511	RCV000992793\|RCV001362985\|RCV001784523;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23911651	23911651	13:g.23911651T>C	-
NM_014363.6(SACS):c.6353_6356del (p.Gly2118fs)	26278	SACS	Likely pathogenic	rs1555251818	RCV000670135;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23911659	23911662	13:g.23911659_23911662del	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.6355C>T (p.Arg2119Ter)	26278	SACS	Pathogenic	rs766711286	RCV000672257\|RCV001387162;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23911660	23911660	13:g.23911660G>A	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.6349G>A (p.Glu2117Lys)	26278	SACS	Uncertain significance	rs754033201	RCV000805719\|RCV001275192\|RCV001287906;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MedGen:CN517202	13	23911666	23911666	13:g.23911666C>T	-
NM_014363.6(SACS):c.6343C>T (p.His2115Tyr)	26278	SACS	Uncertain significance	rs757161092	RCV000528752\|RCV001508701\|RCV001783034;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23911672	23911672	13:g.23911672G>A	ClinGen:CA6911100	C0037772 Spastic paraplegia;
NM_014363.6(SACS):c.6338_6341del (p.Leu2113fs)	26278	SACS	Pathogenic	rs1555251822	RCV000677657;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23911674	23911677	NC_000013.10:g.23911677_23911680del	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.6336A>C (p.Arg2112Ser)	26278	SACS	Conflicting interpretations of pathogenicity	rs80132141	RCV000517696\|RCV001111736\|RCV001080771\|RCV001848895;	N	MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:00190	13	23911679	23911679	NC_000013.10:g.23911679T>G	ClinGen:CA6911101	CN169374 not specified;
NM_014363.6(SACS):c.6320del (p.Leu2107fs)	26278	SACS	Likely pathogenic	rs1057516295	RCV000410468;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23911695	23911695	NC_000013.10:g.23911697del	ClinGen:CA16041627	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.6300_6301delinsC (p.Ser2101fs)	26278	SACS	Likely pathogenic	rs1555251840	RCV000669989;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23911714	23911715	13:g.23911715_23911715del	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.6290del (p.Cys2097fs)	26278	SACS	Pathogenic/Likely pathogenic	rs1868755540	RCV001268275\|RCV002271637;	N	MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23911725	23911725	13:g.23911725_23911725del	-
NM_014363.6(SACS):c.6282del (p.Thr2095fs)	26278	SACS	Likely pathogenic	rs1555251853	RCV000669770;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23911733	23911733	13:g.23911733_23911733del	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.6267G>A (p.Ser2089=)	26278	SACS	Benign/Likely benign	rs9550956	RCV000321971\|RCV000343325\|RCV000474698\|RCV000676362;	N	MedGen:CN169374\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MedGen:CN517202	13	23911748	23911748	13:g.23911748C>T	ClinGen:CA6911107	CN517202 not provided;
NM_014363.6(SACS):c.6266C>T (p.Ser2089Leu)	26278	SACS	Conflicting interpretations of pathogenicity	rs370095300	RCV000516945\|RCV001276938\|RCV002527521;	N	MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23911749	23911749	NC_000013.10:g.23911749G>A	ClinGen:CA6911108	CN169374 not specified;
NM_014363.6(SACS):c.6240T>C (p.Val2080=)	26278	SACS	Conflicting interpretations of pathogenicity	rs550680855	RCV000676363\|RCV001086386\|RCV001111737\|RCV001706417;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MedGen:CN169374	13	23911775	23911775	13:g.23911775A>G	ClinGen:CA6911113	CN517202 not provided;
NM_014363.6(SACS):c.6231_6233del (p.Met2077del)	26278	SACS	Uncertain significance	rs1555251880	RCV000668142;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23911782	23911784	13:g.23911782_23911784del	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.6221del (p.Asp2074fs)	26278	SACS	Pathogenic/Likely pathogenic	rs1057517366	RCV000411355\|RCV002523880;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23911794	23911794	13:g.23911794_23911794del	ClinGen:CA16041628	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.6195T>C (p.Ile2065=)	26278	SACS	Benign/Likely benign	rs4143768	RCV000118232\|RCV000381598\|RCV000676364\|RCV001517096\|RCV001847720;	N	MedGen:CN169374\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MedGen:CN517202\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|M	13	23911820	23911820	13:g.23911820A>G	ClinGen:CA155044	CN517202 not provided;
NM_014363.6(SACS):c.6178G>C (p.Val2060Leu)	26278	SACS	Conflicting interpretations of pathogenicity	rs373226693	RCV000712980\|RCV001830584\|RCV002534514\|RCV002534515;	N	MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MeSH:D030342,MedGen:C0950123\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedG	13	23911837	23911837	NC_000013.10:g.23911837C>G	-
NM_014363.6(SACS):c.6172del (p.Ser2058fs)	26278	SACS	Pathogenic/Likely pathogenic	rs1214399996	RCV000667372;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23911843	23911843	13:g.23911843_23911843del	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.6163del (p.Gln2055fs)	26278	SACS	Likely pathogenic	rs1555251905	RCV000673654;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23911852	23911852	13:g.23911852_23911852del	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.6130C>T (p.Gln2044Ter)	26278	SACS	Likely pathogenic	rs1408290451	RCV000673160;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23911885	23911885	13:g.23911885G>A	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.6126C>A (p.Cys2042Ter)	26278	SACS	Pathogenic	-1	RCV001391622;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23911889	23911889	23911889	-
NM_014363.6(SACS):c.6125G>A (p.Cys2042Tyr)	26278	SACS	Uncertain significance	-1	RCV001535820;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23911890	23911890	23911890	-
NM_014363.6(SACS):c.6119C>G (p.Ala2040Gly)	26278	SACS	Uncertain significance	rs1234193312	RCV001278825;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23911896	23911896	13:g.23911896G>C	-
NM_014363.6(SACS):c.6096G>A (p.Ser2032=)	26278	SACS	Uncertain significance	rs756027210	RCV001112181;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23911919	23911919	13:g.23911919C>T	-
NM_014363.6(SACS):c.6084A>T (p.Glu2028Asp)	26278	SACS	Conflicting interpretations of pathogenicity	rs149018756	RCV000518824\|RCV001276939\|RCV002060257;	N	MedGen:CN169374\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23911931	23911931	13:g.23911931T>A	ClinGen:CA6911139	CN169374 not specified;
NM_014363.6(SACS):c.6070C>G (p.Leu2024Val)	26278	SACS	Uncertain significance	rs758895050	RCV001112182;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23911945	23911945	13:g.23911945G>C	-
NM_014363.6(SACS):c.6069C>T (p.Asn2023=)	26278	SACS	Conflicting interpretations of pathogenicity	rs35369023	RCV000289978\|RCV000861552\|RCV001660626\|RCV001848100;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MedGen:CN169374\|MONDO:MONDO:00190	13	23911946	23911946	13:g.23911946G>A	ClinGen:CA6911143	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.6068del (p.Asn2023fs)	26278	SACS	Likely pathogenic	rs1555251935	RCV000670921;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23911947	23911947	13:g.23911947_23911947del	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.6062C>A (p.Ser2021Tyr)	26278	SACS	Uncertain significance	-1	RCV001578944;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23911953	23911953	23911953	-
NM_014363.6(SACS):c.6059G>A (p.Gly2020Glu)	26278	SACS	Uncertain significance	rs747566710	RCV000347234\|RCV000517759\|RCV000699474;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MedGen:CN169374\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23911956	23911956	13:g.23911956C>T	ClinGen:CA6911144	CN169374 not specified;
NM_014363.6(SACS):c.6052A>T (p.Lys2018Ter)	26278	SACS	Likely pathogenic	rs1555251944	RCV000673402;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23911963	23911963	13:g.23911963T>A	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.6051G>C (p.Lys2017Asn)	26278	SACS	Conflicting interpretations of pathogenicity	rs35865691	RCV000516670\|RCV001082654\|RCV001112183\|RCV001848894;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MONDO:MONDO:00190	13	23911964	23911964	NC_000013.10:g.23911964C>G	ClinGen:CA6911147	CN169374 not specified;
NM_014363.6(SACS):c.6030G>T (p.Lys2010Asn)	26278	SACS	Conflicting interpretations of pathogenicity	rs769751841	RCV000518243\|RCV000803901\|RCV001783017;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23911985	23911985	NC_000013.10:g.23911985C>A	ClinGen:CA6911148	CN169374 not specified;
NM_014363.6(SACS):c.6008A>T (p.Asp2003Val)	26278	SACS	Conflicting interpretations of pathogenicity	rs537408260	RCV000390861\|RCV000401468\|RCV001087895\|RCV001848064;	N	MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:00190	13	23912007	23912007	13:g.23912007T>A	ClinGen:CA6911152	CN169374 not specified;
NM_014363.6(SACS):c.6000_6004del (p.Arg2002fs)	26278	SACS	Pathogenic	rs773754134	RCV001192590\|RCV001232497;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23912011	23912015	13:g.23912011_23912015del	-
NM_014363.6(SACS):c.6001dup (p.Arg2001fs)	26278	SACS	Likely pathogenic	rs1555251960	RCV000670859;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23912013	23912014	13:g.23912013_23912014insT	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.5999_6001del (p.Lys2000del)	26278	SACS	Uncertain significance	rs1555251960	RCV000673637;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23912014	23912016	13:g.23912014_23912016del	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.5990_5991del (p.Ser1997fs)	26278	SACS	Likely pathogenic	rs1555251963	RCV000671797;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23912024	23912025	13:g.23912024_23912025del	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.5975G>A (p.Arg1992Lys)	26278	SACS	Likely benign	rs758101602	RCV000805575\|RCV001830748;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23912040	23912040	13:g.23912040C>T	-
NM_014363.6(SACS):c.5972dup (p.Arg1992fs)	26278	SACS	Likely pathogenic	-1	RCV001535819;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23912042	23912043	23912042	-
NM_014363.6(SACS):c.5971G>A (p.Val1991Ile)	26278	SACS	Conflicting interpretations of pathogenicity	-1	RCV001481775\|RCV001508702\|RCV001780391;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23912044	23912044	23912044	-
NM_014363.6(SACS):c.5937_5939del (p.Ser1980del)	26278	SACS	Uncertain significance	rs1555251980	RCV000671647;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23912076	23912078	13:g.23912076_23912078del	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.5932G>A (p.Val1978Ile)	26278	SACS	Conflicting interpretations of pathogenicity	rs373812430	RCV000312333\|RCV000995036\|RCV002522277;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MedGen:CN517202\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23912083	23912083	13:g.23912083C>T	ClinGen:CA6911169	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.5930A>G (p.Lys1977Arg)	26278	SACS	Uncertain significance	rs774492331	RCV000350600\|RCV000550324;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23912085	23912085	13:g.23912085T>C	ClinGen:CA6911170	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.5919del (p.Glu1974fs)	26278	SACS	Likely pathogenic	rs1555251990	RCV000665272;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23912096	23912096	13:g.23912096_23912096del	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.5917A>G (p.Lys1973Glu)	26278	SACS	not provided	-1	RCV002509006;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23912098	23912098	NC_000013.10:g.23912098T>C	-
NM_014363.6(SACS):c.5906A>G (p.His1969Arg)	26278	SACS	Likely benign	rs776693219	RCV000693766\|RCV001825352;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23912109	23912109	13:g.23912109T>C	-	C0037772 Spastic paraplegia;
NM_014363.6(SACS):c.5903C>T (p.Ala1968Val)	26278	SACS	Conflicting interpretations of pathogenicity	rs201866523	RCV001242782\|RCV001732089\|RCV001780180\|RCV002564044;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MeSH:D030342,MedG	13	23912112	23912112	13:g.23912112G>A	-
NM_014363.6(SACS):c.5858A>T (p.His1953Leu)	26278	SACS	Uncertain significance	rs1428265468	RCV000633048\|RCV001276940;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23912157	23912157	NC_000013.10:g.23912157T>A	ClinGen:CA387524514	C0037772 Spastic paraplegia;
NM_014363.6(SACS):c.5855T>A (p.Val1952Asp)	26278	SACS	Uncertain significance	-1	RCV001579250;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23912160	23912160	23912160	-
NM_014363.6(SACS):c.5848G>A (p.Asp1950Asn)	26278	SACS	Conflicting interpretations of pathogenicity	rs370902090	RCV000225857\|RCV000676365\|RCV001578942;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23912167	23912167	13:g.23912167C>T	ClinGen:CA6911186	CN517202 not provided;
NM_014363.6(SACS):c.5842G>A (p.Asp1948Asn)	26278	SACS	Conflicting interpretations of pathogenicity	rs772515267	RCV000434730\|RCV001828396\|RCV001851025;	N	MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23912173	23912173	13:g.23912173C>T	ClinGen:CA6911188	CN517202 not provided;
NM_014363.6(SACS):c.5841C>T (p.Pro1947=)	26278	SACS	Conflicting interpretations of pathogenicity	rs145371235	RCV000392069\|RCV000868830\|RCV001081266;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MedGen:CN517202\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23912174	23912174	13:g.23912174G>A	ClinGen:CA6911189	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.5836T>C (p.Trp1946Arg)	26278	SACS	Pathogenic	rs137853017	RCV000005852\|RCV001851682;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23912179	23912179	13:g.23912179A>G	ClinGen:CA253513,UniProtKB:Q9NZJ4#VAR_064811,OMIM:604490.0006	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.5832A>G (p.Ala1944=)	26278	SACS	Likely benign	rs374169472	RCV000805989\|RCV001289181\|RCV001784428;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23912183	23912183	13:g.23912183T>C	-
NM_014363.6(SACS):c.5824_5827del (p.Tyr1942fs)	26278	SACS	Pathogenic	-1	RCV001993145\|RCV003136367;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23912188	23912191	23912187	-
NM_014363.6(SACS):c.5784dup (p.Arg1929fs)	26278	SACS	Likely pathogenic	rs1057517099	RCV000409433;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23912230	23912231	NC_000013.10:g.23912231dup	ClinGen:CA16041629	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.5785C>T (p.Arg1929Trp)	26278	SACS	Uncertain significance	rs141019064	RCV001064907\|RCV001115152;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23912230	23912230	13:g.23912230G>A	-
NM_014363.6(SACS):c.5770G>T (p.Val1924Leu)	26278	SACS	Uncertain significance	rs1329947939	RCV001115153;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23912245	23912245	13:g.23912245C>A	-
NM_014363.6(SACS):c.5764_5767del (p.Leu1922fs)	26278	SACS	Likely pathogenic	rs759166250	RCV000410379;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23912248	23912251	13:g.23912248_23912251del	ClinGen:CA6911197	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.5761T>G (p.Tyr1921Asp)	26278	SACS	Pathogenic	-1	RCV001391621;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23912254	23912254	23912254	-
NM_014363.6(SACS):c.5744_5745del (p.His1915fs)	26278	SACS	Pathogenic/Likely pathogenic	rs1057517138	RCV000411869\|RCV001387964;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23912270	23912271	13:g.23912270_23912271del	ClinGen:CA16041630	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.5744A>G (p.His1915Arg)	26278	SACS	Conflicting interpretations of pathogenicity	rs144822691	RCV000712979\|RCV000765123\|RCV001245813;	N	MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23912271	23912271	NC_000013.10:g.23912271T>C	-
NM_014363.6(SACS):c.5732C>T (p.Thr1911Met)	26278	SACS	Conflicting interpretations of pathogenicity	rs368494148	RCV000513129\|RCV001275193\|RCV002527402;	N	MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23912283	23912283	13:g.23912283G>A	ClinGen:CA6911204	CN517202 not provided;
NM_014363.6(SACS):c.5719C>T (p.Arg1907Ter)	26278	SACS	Pathogenic	rs1485209013	RCV000672553\|RCV002532128;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23912296	23912296	13:g.23912296G>A	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.5719del (p.Arg1907fs)	26278	SACS	Likely pathogenic	rs1555252055	RCV000671785;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23912296	23912296	13:g.23912296_23912296del	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.5711C>T (p.Thr1904Ile)	26278	SACS	Uncertain significance	rs758570844	RCV000995037\|RCV001245729\|RCV001784527;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23912304	23912304	13:g.23912304G>A	-
NM_014363.6(SACS):c.5711C>G (p.Thr1904Arg)	26278	SACS	Conflicting interpretations of pathogenicity	rs758570844	RCV000995038\|RCV001578936\|RCV001419225\|RCV002549896;	N	MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MeSH:D030342,MedG	13	23912304	23912304	13:g.23912304G>C	-
NM_014363.6(SACS):c.5692G>T (p.Glu1898Ter)	26278	SACS	Likely pathogenic	-1	RCV001783709;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23912323	23912323	23912323	-
NM_014363.6(SACS):c.5639C>T (p.Thr1880Ile)	26278	SACS	Uncertain significance	rs1555252070	RCV000667624;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23912376	23912376	13:g.23912376G>A	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.5630G>A (p.Arg1877Gln)	26278	SACS	Conflicting interpretations of pathogenicity	-1	RCV001663558\|RCV001832845\|RCV001847316\|RCV002538572;	N	MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human	13	23912385	23912385	23912385	-
NM_014363.6(SACS):c.5629C>T (p.Arg1877Ter)	26278	SACS	Conflicting interpretations of pathogenicity	rs761089024	RCV000409299\|RCV000515938\|RCV001865273;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontolo	13	23912386	23912386	13:g.23912386G>A	ClinGen:CA6911218	C0037773 Hereditary spastic paraplegia;
NM_014363.6(SACS):c.5621T>C (p.Leu1874Ser)	26278	SACS	Uncertain significance	rs1868847058	RCV001262659;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23912394	23912394	13:g.23912394A>G	-
NM_014363.6(SACS):c.5618_5619del (p.Tyr1873fs)	26278	SACS	Likely pathogenic	rs1188844823	RCV000672744;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23912396	23912397	13:g.23912396_23912397del	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.5598_5599del (p.Ile1867fs)	26278	SACS	Pathogenic/Likely pathogenic	rs1555252086	RCV000674844\|RCV001204188;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23912416	23912417	13:g.23912416_23912417del	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.5591A>G (p.Lys1864Arg)	26278	SACS	Uncertain significance	-1	RCV001578933;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23912424	23912424	23912424	-
NM_014363.6(SACS):c.5583G>C (p.Trp1861Cys)	26278	SACS	Conflicting interpretations of pathogenicity	rs140678034	RCV001276941\|RCV002473033\|RCV002525073\|RCV002527519;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedG	13	23912432	23912432	NC_000013.10:g.23912432C>G	ClinGen:CA6911227	CN169374 not specified;
NM_014363.6(SACS):c.5529G>C (p.Leu1843=)	26278	SACS	Likely benign	rs148091738	RCV000862540\|RCV001276942;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23912486	23912486	13:g.23912486C>G	-
NM_014363.6(SACS):c.5502G>C (p.Leu1834=)	26278	SACS	Conflicting interpretations of pathogenicity	rs34389000	RCV000861553\|RCV001115154\|RCV001849145\|RCV001664489;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MONDO:MONDO:0019064,MedGen:C00377	13	23912513	23912513	13:g.23912513C>G	-
NM_014363.6(SACS):c.5492del (p.Lys1831fs)	26278	SACS	Likely pathogenic	rs1868862742	RCV001255857;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23912523	23912523	13:g.23912523_23912523del	-
NM_014363.6(SACS):c.5469C>A (p.Cys1823Ter)	26278	SACS	Likely pathogenic	rs1057517172	RCV000409004;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23912546	23912546	13:g.23912546G>T	ClinGen:CA16041631	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.5466T>C (p.Thr1822=)	26278	SACS	Conflicting interpretations of pathogenicity	rs757576348	RCV001115155\|RCV002556259;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23912549	23912549	13:g.23912549A>G	-
NM_014363.6(SACS):c.5461T>C (p.Cys1821Arg)	26278	SACS	Conflicting interpretations of pathogenicity	rs376680832	RCV000863078\|RCV001080973\|RCV001115156\|RCV001849165;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MONDO:MONDO:00190	13	23912554	23912554	13:g.23912554A>G	-
NM_014363.6(SACS):c.5458C>T (p.Leu1820=)	26278	SACS	Likely benign	-1	RCV001403344\|RCV001831432;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23912557	23912557	23912557	-
NM_014363.6(SACS):c.5440_5449del (p.Glu1814fs)	26278	SACS	Pathogenic	-1	RCV001891348\|RCV002290791;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23912566	23912575	23912565	-
NM_014363.6(SACS):c.5428C>T (p.Gln1810Ter)	26278	SACS	Pathogenic/Likely pathogenic	rs1868872666	RCV001289179\|RCV001785771\|RCV001039830;	N	MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23912587	23912587	13:g.23912587G>A	-
NM_014363.6(SACS):c.5419G>A (p.Glu1807Lys)	26278	SACS	Conflicting interpretations of pathogenicity	rs375805688	RCV000516475\|RCV000863881\|RCV001109527;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23912596	23912596	NC_000013.10:g.23912596C>T	ClinGen:CA6911250	CN169374 not specified;
NM_014363.6(SACS):c.5414C>G (p.Ser1805Ter)	26278	SACS	Likely pathogenic	rs1555252113	RCV000664891;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23912601	23912601	13:g.23912601G>C	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.5391G>C (p.Lys1797Asn)	26278	SACS	Conflicting interpretations of pathogenicity	rs144715822	RCV000518362\|RCV001109528\|RCV001433538;	N	MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23912624	23912624	NC_000013.10:g.23912624C>G	ClinGen:CA6911253	CN169374 not specified;
NM_014363.6(SACS):c.5379del (p.Phe1793fs)	26278	SACS	Likely pathogenic	rs1057517297	RCV000412471;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23912636	23912636	13:g.23912636_23912636del	ClinGen:CA16041632	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.5368G>A (p.Ala1790Thr)	26278	SACS	Conflicting interpretations of pathogenicity	rs147517201	RCV000821085\|RCV001276943\|RCV001849125;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MONDO:MONDO:0019064,MedGen:C00377	13	23912647	23912647	13:g.23912647C>T	-
NM_014363.6(SACS):c.5358TGA[1] (p.Asp1788del)	26278	SACS	Uncertain significance	rs775922113	RCV000668952;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23912652	23912654	13:g.23912652_23912654del	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.5356G>A (p.Asp1786Asn)	26278	SACS	Likely benign	rs763496360	RCV000822535\|RCV001276944;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23912659	23912659	13:g.23912659C>T	-
NM_014363.6(SACS):c.5304_5306del (p.His1769del)	26278	SACS	Uncertain significance	rs1555252136	RCV000669699;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23912709	23912711	13:g.23912709_23912711del	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.5302C>T (p.His1768Tyr)	26278	SACS	Conflicting interpretations of pathogenicity	rs758381112	RCV000297039\|RCV002520867;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23912713	23912713	13:g.23912713G>A	ClinGen:CA6911269	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.5296G>T (p.Glu1766Ter)	26278	SACS	Likely pathogenic	-1	RCV002281768;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23912719	23912719	23912719	-
NM_014363.6(SACS):c.5281C>T (p.Gln1761Ter)	26278	SACS	Likely pathogenic	rs1555252142	RCV000671001;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23912734	23912734	13:g.23912734G>A	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.5274C>T (p.Cys1758=)	26278	SACS	Benign	rs201982449	RCV000867989\|RCV001278826;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23912741	23912741	13:g.23912741G>A	-
NM_014363.6(SACS):c.5238dup (p.Lys1747Ter)	26278	SACS	Likely pathogenic	rs1555252148	RCV000673869;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23912776	23912777	13:g.23912776_23912777insA	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.5222C>T (p.Thr1741Ile)	26278	SACS	Conflicting interpretations of pathogenicity	rs201724656	RCV000354216\|RCV000876841\|RCV001848101;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0019064,MedGen:C00377	13	23912793	23912793	13:g.23912793G>A	ClinGen:CA6911277	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.5169A>G (p.Ala1723=)	26278	SACS	Conflicting interpretations of pathogenicity	rs200699984	RCV000874244\|RCV001109529;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23912846	23912846	13:g.23912846T>C	-
NM_014363.6(SACS):c.5151dup (p.Ser1718fs)	26278	SACS	Pathogenic	rs754439135	RCV000517322\|RCV001035595\|RCV001276945\|RCV001848893\|RCV002527518;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MONDO:MONDO:00190	13	23912863	23912864	NC_000013.10:g.23912872dup	ClinGen:CA6911291	CN517202 not provided;
NM_014363.6(SACS):c.5149_5151del (p.Lys1717del)	26278	SACS	Uncertain significance	rs754439135	RCV000672014\|RCV001849040\|RCV002473102;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685\|MedGen:CN517202	13	23912864	23912866	13:g.23912864_23912866del	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.5147A>G (p.Lys1716Arg)	26278	SACS	Likely benign	rs199998045	RCV001224971\|RCV001836173;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23912868	23912868	13:g.23912868T>C	-
NM_014363.6(SACS):c.5143A>T (p.Lys1715Ter)	26278	SACS	Pathogenic	rs755824618	RCV001174760\|RCV001387163;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23912872	23912872	13:g.23912872T>A	-
NM_014363.6(SACS):c.5125C>T (p.Gln1709Ter)	26278	SACS	Pathogenic	rs1057517311	RCV000412006\|RCV001224413;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23912890	23912890	13:g.23912890G>A	ClinGen:CA16041633	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.5122del (p.Ala1708fs)	26278	SACS	Likely pathogenic	rs1485885260	RCV000668294;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23912893	23912893	13:g.23912893_23912893del	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.5111_5113dup (p.Asn1704_Pro1705insHis)	26278	SACS	Uncertain significance	rs1555252172	RCV000667641;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23912901	23912902	13:g.23912901_23912902insGGT	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.5079G>A (p.Met1693Ile)	26278	SACS	Uncertain significance	rs775069857	RCV000995039\|RCV001231870\|RCV001784528;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23912936	23912936	13:g.23912936C>T	-
NM_014363.6(SACS):c.5073_5074dup (p.Ser1692fs)	26278	SACS	Likely pathogenic	rs1057517305	RCV000409240;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23912940	23912941	13:g.23912940_23912941insAC	ClinGen:CA16041634	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.5075C>A (p.Ser1692Ter)	26278	SACS	Likely pathogenic	rs1555252184	RCV000667425;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23912940	23912940	13:g.23912940G>T	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.5065_5066del (p.Ser1689fs)	26278	SACS	Pathogenic/Likely pathogenic	rs1372213267	RCV000724727\|RCV001853995\|RCV000591507;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23912949	23912950	13:g.23912949_23912950del	ClinGen:CA608985270	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.5064G>A (p.Gln1688=)	26278	SACS	Likely benign	rs760628805	RCV000868684\|RCV001275194;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23912951	23912951	13:g.23912951C>T	-
NM_014363.6(SACS):c.5060C>T (p.Thr1687Ile)	26278	SACS	Uncertain significance	rs776656956	RCV001045544\|RCV001276946;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23912955	23912955	13:g.23912955G>A	-
NM_014363.6(SACS):c.5045G>A (p.Arg1682Lys)	26278	SACS	Conflicting interpretations of pathogenicity	rs1269546947	RCV001043294\|RCV001832412\|RCV002280151;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MedGen:CN517202	13	23912970	23912970	13:g.23912970C>T	-
NM_014363.6(SACS):c.5043C>T (p.His1681=)	26278	SACS	Conflicting interpretations of pathogenicity	rs1868915593	RCV001109530\|RCV002555066;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23912972	23912972	13:g.23912972G>A	-
NM_014363.6(SACS):c.5037_5038del (p.Cys1679fs)	26278	SACS	Likely pathogenic	-1	RCV002250908;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23912977	23912978	23912976	-
NM_014363.6(SACS):c.5010T>G (p.Tyr1670Ter)	26278	SACS	Likely pathogenic	rs1459899547	RCV000672847;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23913005	23913005	13:g.23913005A>C	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.4998A>G (p.Thr1666=)	26278	SACS	Likely benign	rs184994682	RCV000862021\|RCV001275195;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23913017	23913017	13:g.23913017T>C	-
NM_014363.6(SACS):c.4986G>A (p.Thr1662=)	26278	SACS	Conflicting interpretations of pathogenicity	rs755523201	RCV001109531\|RCV001425988;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23913029	23913029	13:g.23913029C>T	-
NM_014363.6(SACS):c.4976T>G (p.Val1659Gly)	26278	SACS	Uncertain significance	rs886050085	RCV000261943;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23913039	23913039	13:g.23913039A>C	ClinGen:CA10643115	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.4963A>G (p.Lys1655Glu)	26278	SACS	Uncertain significance	rs1035497308	RCV001278827;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23913052	23913052	13:g.23913052T>C	-
NM_014363.6(SACS):c.4957G>T (p.Glu1653Ter)	26278	SACS	Likely pathogenic	-1	RCV002281746;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23913058	23913058	23913058	-
NM_014363.6(SACS):c.4936C>A (p.Leu1646Met)	26278	SACS	Conflicting interpretations of pathogenicity	rs200810800	RCV000300780\|RCV000516210\|RCV001242340\|RCV002520868;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MedGen:CN517202\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MeSH:D030342,MedG	13	23913079	23913079	13:g.23913079G>T	ClinGen:CA6911320	CN169374 not specified;
NM_014363.6(SACS):c.4933C>T (p.Arg1645Ter)	26278	SACS	Pathogenic	rs770901638	RCV001255708\|RCV001383726;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23913082	23913082	13:g.23913082G>A	-
NM_014363.6(SACS):c.4913G>A (p.Ser1638Asn)	26278	SACS	Conflicting interpretations of pathogenicity	rs774163551	RCV001289176\|RCV001830108\|RCV002537985;	N	MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23913102	23913102	23913102	-
NM_014363.6(SACS):c.4900G>C (p.Glu1634Gln)	26278	SACS	Uncertain significance	rs143961484	RCV000503684\|RCV000551798\|RCV000765124\|RCV001848875;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MONDO:MONDO:00190	13	23913115	23913115	NC_000013.10:g.23913115C>G	ClinGen:CA6911327	CN169374 not specified;
NM_014363.6(SACS):c.4894_4897del (p.Leu1631_Thr1632insTer)	26278	SACS	Likely pathogenic	rs1057516580	RCV000411344;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23913118	23913121	13:g.23913118_23913121del	ClinGen:CA16041635	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.4877_4880del (p.Gly1626fs)	26278	SACS	Pathogenic	rs757872635	RCV000282747\|RCV000670743;	N	MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23913135	23913138	NC_000013.10:g.23913137_23913140del	ClinGen:CA6911333
NM_014363.6(SACS):c.4878C>T (p.Gly1626=)	26278	SACS	Likely benign	rs778664565	RCV000868844\|RCV001278828;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23913137	23913137	13:g.23913137G>A	-
NM_014363.6(SACS):c.4846A>C (p.Asn1616His)	26278	SACS	Uncertain significance	-1	RCV001663557\|RCV001827569;	N	MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23913169	23913169	23913169	-
NM_014363.6(SACS):c.4840T>C (p.Phe1614Leu)	26278	SACS	Uncertain significance	rs771080306	RCV001289174\|RCV001830107;	N	MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23913175	23913175	23913175	-
NM_014363.6(SACS):c.4835dup (p.Phe1614fs)	26278	SACS	Pathogenic	-1	RCV001391620;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23913179	23913180	23913179	-
NM_014363.6(SACS):c.4814G>C (p.Ser1605Thr)	26278	SACS	Conflicting interpretations of pathogenicity	rs770007806	RCV001225970\|RCV001828802\|RCV001847199;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MONDO:MONDO:0019064,MedGen:C00377	13	23913201	23913201	13:g.23913201C>G	-
NM_014363.6(SACS):c.4782C>G (p.Asp1594Glu)	26278	SACS	Uncertain significance	rs1330036755	RCV001111811\|RCV001223402;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23913233	23913233	13:g.23913233G>C	-
NM_014363.6(SACS):c.4760del (p.His1587fs)	26278	SACS	Likely pathogenic	rs1057516285	RCV000409566;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23913255	23913255	NC_000013.10:g.23913255del	ClinGen:CA16041636	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.4756_4760del (p.Asn1586fs)	26278	SACS	Pathogenic	-1	RCV001568302\|RCV001832778\|RCV001866008\|RCV001847304;	N	MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:00190	13	23913255	23913259	23913254	-
NM_014363.6(SACS):c.4757A>G (p.Asn1586Ser)	26278	SACS	Conflicting interpretations of pathogenicity	rs201558584	RCV000633040\|RCV001111812\|RCV001508703\|RCV001849005;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MedGen:CN517202\|MONDO:MONDO:00190	13	23913258	23913258	13:g.23913258T>C	ClinGen:CA6911347	C0037772 Spastic paraplegia;
NM_014363.6(SACS):c.4744G>A (p.Asp1582Asn)	26278	SACS	Pathogenic/Likely pathogenic	rs1160357920	RCV000536906\|RCV000578242\|RCV001848923;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MONDO:MONDO:0019064,MedGen:C00377	13	23913271	23913271	13:g.23913271C>T	ClinGen:CA387527870	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.4743C>T (p.Phe1581=)	26278	SACS	Likely benign	rs143310473	RCV000868486\|RCV001825737;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23913272	23913272	13:g.23913272G>A	-
NM_014363.6(SACS):c.4730dup (p.Met1578fs)	26278	SACS	Likely pathogenic	-1	RCV003133877;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23913284	23913285	NC_000013.10:g.23913286dup	-
NM_014363.6(SACS):c.4724G>A (p.Arg1575Gln)	26278	SACS	Conflicting interpretations of pathogenicity	rs764992284	RCV001195790\|RCV002559244\|RCV002560209;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MeSH:D030342,MedGen:C0950123	13	23913291	23913291	13:g.23913291C>T	-
NM_014363.6(SACS):c.4724G>C (p.Arg1575Pro)	26278	SACS	Pathogenic	-1	RCV001391619;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23913291	23913291	23913291	-
NM_014363.6(SACS):c.4723C>T (p.Arg1575Trp)	26278	SACS	Likely pathogenic	-1	RCV002289200;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23913292	23913292	23913292	-
NM_014363.6(SACS):c.4718T>G (p.Met1573Arg)	26278	SACS	Pathogenic	-1	RCV001391618;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23913297	23913297	23913297	-
NM_014363.6(SACS):c.4684del (p.Ser1562fs)	26278	SACS	Likely pathogenic	-1	RCV002251088;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23913331	23913331	23913330	-
NM_014363.6(SACS):c.4639A>T (p.Arg1547Trp)	26278	SACS	Uncertain significance	rs772907934	RCV000992792\|RCV001051001\|RCV001784522;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23913376	23913376	13:g.23913376T>A	-
NM_014363.6(SACS):c.4628A>G (p.Glu1543Gly)	26278	SACS	Uncertain significance	rs370324250	RCV000557599\|RCV000992791\|RCV001783033;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23913387	23913387	13:g.23913387T>C	ClinGen:CA6911367	C0037772 Spastic paraplegia;
NM_014363.6(SACS):c.4612A>G (p.Ile1538Val)	26278	SACS	Conflicting interpretations of pathogenicity	rs544249449	RCV000518100\|RCV000547323\|RCV001275196;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23913403	23913403	NC_000013.10:g.23913403T>C	ClinGen:CA6911368	CN169374 not specified;
NM_014363.6(SACS):c.4606G>T (p.Val1536Leu)	26278	SACS	Uncertain significance	rs764832688	RCV000489239\|RCV001834590;	N	MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23913409	23913409	NC_000013.10:g.23913409C>A	ClinGen:CA387528267
NM_014363.6(SACS):c.4593dup (p.Asp1532fs)	26278	SACS	Likely pathogenic	rs780197970	RCV000410059;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23913421	23913422	13:g.23913421_23913422insT	ClinGen:CA6911373	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.4585C>T (p.Gln1529Ter)	26278	SACS	Pathogenic	rs1555252345	RCV000625765;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23913430	23913430	13:g.23913430G>A	ClinGen:CA387528407	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.4565_4568del (p.Leu1522fs)	26278	SACS	Pathogenic/Likely pathogenic	rs1555252349	RCV000670492\|RCV001389177;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23913447	23913450	13:g.23913447_23913450del	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.4522A>C (p.Asn1508His)	26278	SACS	Uncertain significance	rs144653411	RCV000992790\|RCV001276947;	N	MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23913493	23913493	13:g.23913493T>G	-
NM_014363.6(SACS):c.4495dup (p.Met1499fs)	26278	SACS	Likely pathogenic	rs1555252359	RCV000671834;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23913519	23913520	13:g.23913519_23913520insT	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.4465_4471del (p.Asn1489fs)	26278	SACS	Likely pathogenic	rs1057516294	RCV000409192;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23913544	23913550	13:g.23913544_23913550del	ClinGen:CA16041637	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.4430T>C (p.Ile1477Thr)	26278	SACS	Uncertain significance	-1	RCV001647238;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23913585	23913585	23913585	-
NM_014363.6(SACS):c.4385dup (p.Arg1463fs)	26278	SACS	Likely pathogenic	rs1555252388	RCV000671599;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23913629	23913630	13:g.23913629_23913630insA	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.4318A>G (p.Ser1440Gly)	26278	SACS	Uncertain significance	rs1172044277	RCV000992788\|RCV001832308\|RCV001858756;	N	MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23913697	23913697	13:g.23913697T>C	-
NM_014363.6(SACS):c.4302A>G (p.Leu1434=)	26278	SACS	Conflicting interpretations of pathogenicity	rs34559250	RCV000357802\|RCV000864699\|RCV000517025\|RCV001171670\|RCV001848102;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MedGen:CN169374\|MedGen:CN517202\|M	13	23913713	23913713	13:g.23913713T>C	ClinGen:CA6911407	CN169374 not specified;
NM_014363.6(SACS):c.4299G>A (p.Trp1433Ter)	26278	SACS	Likely pathogenic	rs768209419	RCV001289171\|RCV001830105;	N	MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23913716	23913716	23913716	-
NM_014363.6(SACS):c.4298G>A (p.Trp1433Ter)	26278	SACS	Likely pathogenic	rs1057516930	RCV000410424;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23913717	23913717	NC_000013.10:g.23913717C>T	ClinGen:CA16041638	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.4279C>A (p.Pro1427Thr)	26278	SACS	Conflicting interpretations of pathogenicity	rs527513599	RCV000333351\|RCV001089050\|RCV001782779;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23913736	23913736	13:g.23913736G>T	ClinGen:CA6911409	CN169374 not specified;
NM_014363.6(SACS):c.4268A>G (p.His1423Arg)	26278	SACS	Uncertain significance	-1	RCV001823470;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23913747	23913747	23913747	-
NM_014363.6(SACS):c.4255A>G (p.Ile1419Val)	26278	SACS	Conflicting interpretations of pathogenicity	rs138245586	RCV001111813\|RCV001482679\|RCV001289170;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MedGen:CN517202	13	23913760	23913760	13:g.23913760T>C	-
NM_014363.6(SACS):c.4233dup (p.Leu1412fs)	26278	SACS	Likely pathogenic	rs1555252448	RCV000672857;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23913781	23913782	13:g.23913781_23913782insT	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.4234C>T (p.Leu1412Phe)	26278	SACS	Uncertain significance	rs961377840	RCV001111814;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23913781	23913781	13:g.23913781G>A	-
NM_014363.6(SACS):c.4232T>G (p.Leu1411Ter)	26278	SACS	Pathogenic	rs867249938	RCV000521561\|RCV000984213\|RCV001064306;	N	MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23913783	23913783	NC_000013.10:g.23913783A>C	ClinGen:CA387531824
NM_014363.6(SACS):c.4199_4200insAACATTAATGTTTAATG (p.Tyr1400Ter)	26278	SACS	Likely pathogenic	rs1555252458	RCV000665635;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23913815	23913816	13:g.23913815_23913816insCATTAAACATTAATGTT	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.4188C>T (p.His1396=)	26278	SACS	Benign/Likely benign	rs61754477	RCV000265524\|RCV000324275\|RCV000461336\|RCV000676366;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MedGen:CN169374\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MedGen:CN517202	13	23913827	23913827	13:g.23913827G>A	ClinGen:CA6911421	CN517202 not provided;
NM_014363.6(SACS):c.4173_4175del (p.Ile1391del)	26278	SACS	Uncertain significance	rs1555252463	RCV000670377;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23913840	23913842	13:g.23913840_23913842del	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.4168del (p.Ile1391fs)	26278	SACS	Likely pathogenic	rs1555252465	RCV000673214;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23913847	23913847	13:g.23913847_23913847del	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.4162_4164del (p.Ser1388del)	26278	SACS	Uncertain significance	rs755941308	RCV000674669;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23913851	23913853	13:g.23913851_23913853del	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.4149T>C (p.His1383=)	26278	SACS	Likely benign	rs749219225	RCV000633019\|RCV001275197;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23913866	23913866	13:g.23913866A>G	ClinGen:CA6911426	C0037772 Spastic paraplegia;
NM_014363.6(SACS):c.4145A>G (p.His1382Arg)	26278	SACS	Likely benign	rs550057119	RCV000876720\|RCV001830926;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23913870	23913870	13:g.23913870T>C	-
NM_014363.6(SACS):c.4118C>T (p.Ala1373Val)	26278	SACS	Conflicting interpretations of pathogenicity	rs61548169	RCV000224523\|RCV000290021\|RCV001084237\|RCV001112284\|RCV001847949;	N	MedGen:CN517202\|MedGen:CN169374\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|M	13	23913897	23913897	13:g.23913897G>A	ClinGen:CA6911430	CN517202 not provided;
NM_014363.6(SACS):c.4117G>C (p.Ala1373Pro)	26278	SACS	Conflicting interpretations of pathogenicity	rs61326562	RCV000323040\|RCV000884011\|RCV001848103;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0019064,MedGen:C00377	13	23913898	23913898	13:g.23913898C>G	ClinGen:CA6911431	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.4106A>G (p.Asn1369Ser)	26278	SACS	Uncertain significance	-1	RCV003142727;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23913909	23913909	NC_000013.10:g.23913909T>C	-
NM_014363.6(SACS):c.4103G>T (p.Ser1368Ile)	26278	SACS	Pathogenic	rs1566069517	RCV000761546;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23913912	23913912	NC_000013.10:g.23913912C>A	-
NM_014363.6(SACS):c.4098G>C (p.Leu1366=)	26278	SACS	Likely benign	rs200381539	RCV000865968\|RCV001835990;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23913917	23913917	13:g.23913917C>G	-
NM_014363.6(SACS):c.4095G>A (p.Trp1365Ter)	26278	SACS	Likely pathogenic	rs1057516779	RCV000412449;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23913920	23913920	13:g.23913920C>T	ClinGen:CA16041639	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.4076T>C (p.Met1359Thr)	26278	SACS	Conflicting interpretations of pathogenicity	rs146451611	RCV000194599\|RCV000515329\|RCV000710206\|RCV001082339\|RCV001847803;	N	MedGen:CN169374\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MedGen:CN517202\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|M	13	23913939	23913939	13:g.23913939A>G	ClinGen:CA208864	CN169374 not specified;
NM_014363.6(SACS):c.4039del (p.Leu1347fs)	26278	SACS	Likely pathogenic	rs1057516222	RCV000409583;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23913976	23913976	NC_000013.10:g.23913976del	ClinGen:CA16041640	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.4033dup (p.Gln1345fs)	26278	SACS	Pathogenic	rs606231163	RCV000005853;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23913981	23913982	NC_000013.10:g.23913983dup	OMIM:604490.0007,ClinGen:CA253515	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.4018T>C (p.Tyr1340His)	26278	SACS	Conflicting interpretations of pathogenicity	-1	RCV002932929\|RCV003138399;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23913997	23913997	NC_000013.10:g.23913997A>G	-
NM_014363.6(SACS):c.4015A>C (p.Ile1339Leu)	26278	SACS	Conflicting interpretations of pathogenicity	rs143144795	RCV001112285\|RCV001523475\|RCV001847159;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0019064,MedGen:C00377	13	23914000	23914000	13:g.23914000T>G	-
NM_014363.6(SACS):c.3992A>G (p.His1331Arg)	26278	SACS	Uncertain significance	rs1869039514	RCV001278829;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23914023	23914023	13:g.23914023T>C	-
NM_014363.6(SACS):c.3978_3982del (p.Glu1326fs)	26278	SACS	Likely pathogenic	rs1555252518	RCV000668565;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23914033	23914037	13:g.23914033_23914037del	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.3915T>C (p.His1305=)	26278	SACS	Conflicting interpretations of pathogenicity	rs767598017	RCV000865691\|RCV001112286\|RCV001446915;	N	MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23914100	23914100	13:g.23914100A>G	-
NM_014363.6(SACS):c.3901C>T (p.Gln1301Ter)	26278	SACS	Likely pathogenic	rs1555252531	RCV000667332;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23914114	23914114	13:g.23914114G>A	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.3868G>T (p.Ala1290Ser)	26278	SACS	Conflicting interpretations of pathogenicity	rs757939935	RCV000379945\|RCV000501904\|RCV002520869;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MedGen:CN169374\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23914147	23914147	NC_000013.10:g.23914147C>A	ClinGen:CA6911463	CN169374 not specified;
NM_014363.6(SACS):c.3836G>A (p.Trp1279Ter)	26278	SACS	Pathogenic/Likely pathogenic	-1	RCV001843707\|RCV003120717;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23914179	23914179	23914179	-
NM_014363.6(SACS):c.3831_3832dup (p.Val1278fs)	26278	SACS	Likely pathogenic	rs1555252545	RCV000671777;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23914182	23914183	13:g.23914182_23914183insCC	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.3768C>T (p.Tyr1256=)	26278	SACS	Likely benign	rs200350631	RCV000862947\|RCV001275198;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23914247	23914247	13:g.23914247G>A	-
NM_014363.6(SACS):c.3752T>C (p.Ile1251Thr)	26278	SACS	Conflicting interpretations of pathogenicity	rs76872266	RCV000269188\|RCV000282202\|RCV000861200\|RCV001086494\|RCV001848052;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MedGen:CN169374\|MedGen:CN517202\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|M	13	23914263	23914263	13:g.23914263A>G	ClinGen:CA6911480	CN169374 not specified;
NM_014363.6(SACS):c.3729A>G (p.Glu1243=)	26278	SACS	Likely benign	rs756663705	RCV000873926\|RCV001277260;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23914286	23914286	13:g.23914286T>C	-
NM_014363.6(SACS):c.3706_3707insACT (p.Tyr1235dup)	26278	SACS	Uncertain significance	rs1555252563	RCV000672372;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23914308	23914309	13:g.23914308_23914309insAGT	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.3700T>A (p.Trp1234Arg)	26278	SACS	Uncertain significance	rs1192682879	RCV000658672\|RCV001692255;	N	MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23914315	23914315	13:g.23914315A>T	-	CN517202 not provided;
NM_014363.6(SACS):c.3674T>G (p.Leu1225Ter)	26278	SACS	Likely pathogenic	rs959856535	RCV000668407;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23914341	23914341	13:g.23914341A>C	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.3655C>T (p.Pro1219Ser)	26278	SACS	Likely benign	-1	RCV001823047;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23914360	23914360	23914360	-
NM_014363.6(SACS):c.3633del (p.Ala1212fs)	26278	SACS	Likely pathogenic	rs1555252587	RCV000666037;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23914382	23914382	13:g.23914382_23914382del	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.3615C>T (p.Ile1205=)	26278	SACS	Uncertain significance	rs886050086	RCV000326629;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23914400	23914400	13:g.23914400G>A	ClinGen:CA10644038	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.3589T>C (p.Ser1197Pro)	26278	SACS	Likely pathogenic	rs727503785	RCV000157061;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23914426	23914426	13:g.23914426A>G	ClinGen:CA273726	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.3585del (p.Ile1195fs)	26278	SACS	Pathogenic	-1	RCV000005850;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23914430	23914430	23914429	OMIM:604490.0004
NM_014363.6(SACS):c.3557T>C (p.Met1186Thr)	26278	SACS	Uncertain significance	rs886050087	RCV000383585;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23914458	23914458	13:g.23914458A>G	ClinGen:CA10634058	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.3556dup (p.Met1186fs)	26278	SACS	Likely pathogenic	rs1555252611	RCV000671609;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23914458	23914459	13:g.23914458_23914459insT	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.3551C>G (p.Pro1184Arg)	26278	SACS	Likely benign	rs374961109	RCV001247995\|RCV001835319;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23914464	23914464	13:g.23914464G>C	-
NM_014363.6(SACS):c.3550C>T (p.Pro1184Ser)	26278	SACS	Likely benign	rs200831217	RCV001051899\|RCV001827327;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23914465	23914465	13:g.23914465G>A	-
NM_014363.6(SACS):c.3545C>T (p.Ala1182Val)	26278	SACS	Conflicting interpretations of pathogenicity	rs373859681	RCV000283262\|RCV002522278;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23914470	23914470	13:g.23914470G>A	ClinGen:CA6911512	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.3523_3527del (p.Gly1175fs)	26278	SACS	Likely pathogenic	rs1555252623	RCV000674267;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23914488	23914492	13:g.23914488_23914492del	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.3506G>C (p.Gly1169Ala)	26278	SACS	Conflicting interpretations of pathogenicity	rs1443000762	RCV000676367\|RCV001830473\|RCV002531379;	N	MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23914509	23914509	13:g.23914509C>G	-	CN517202 not provided;
NM_014363.6(SACS):c.3484G>T (p.Glu1162Ter)	26278	SACS	Pathogenic	-1	RCV001994797\|RCV003136371;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23914531	23914531	23914531	-
NM_014363.6(SACS):c.3457A>T (p.Lys1153Ter)	26278	SACS	Likely pathogenic	rs1555252634	RCV000670862;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23914558	23914558	13:g.23914558T>A	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.3443A>C (p.Lys1148Thr)	26278	SACS	Likely benign	rs140028127	RCV001243638\|RCV001835177;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23914572	23914572	13:g.23914572T>G	-
NM_014363.6(SACS):c.3429A>G (p.Gln1143=)	26278	SACS	Uncertain significance	rs1869096503	RCV001037458\|RCV001827224;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23914586	23914586	13:g.23914586T>C	-
NM_014363.6(SACS):c.3427C>A (p.Gln1143Lys)	26278	SACS	Conflicting interpretations of pathogenicity	rs144267558	RCV000193535\|RCV000338267\|RCV000470007\|RCV001083422\|RCV001847871;	N	MedGen:CN169374\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MedGen:CN517202\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|M	13	23914588	23914588	NC_000013.10:g.23914588G>T	ClinGen:CA207090	CN169374 not specified;
NM_014363.6(SACS):c.3427C>T (p.Gln1143Ter)	26278	SACS	Pathogenic/Likely pathogenic	rs144267558	RCV000670813;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23914588	23914588	13:g.23914588G>A	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.3417C>T (p.His1139=)	26278	SACS	Conflicting interpretations of pathogenicity	rs758862765	RCV000869042\|RCV001113627\|RCV001396576;	N	MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23914598	23914598	13:g.23914598G>A	-
NM_014363.6(SACS):c.3413A>G (p.Asn1138Ser)	26278	SACS	Uncertain significance	rs1202128043	RCV000517093\|RCV001834669;	N	MedGen:CN169374\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23914602	23914602	13:g.23914602T>C	ClinGen:CA387535393	CN169374 not specified;
NM_014363.6(SACS):c.3408T>G (p.Asn1136Lys)	26278	SACS	Uncertain significance	rs756303420	RCV000518654\|RCV001829475;	N	MedGen:CN169374\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23914607	23914607	13:g.23914607A>C	ClinGen:CA246662269	CN169374 not specified;
NM_014363.6(SACS):c.3391C>T (p.Leu1131Phe)	26278	SACS	Conflicting interpretations of pathogenicity	rs139805032	RCV000232090\|RCV000988965;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23914624	23914624	13:g.23914624G>A	ClinGen:CA6911531	C0037772 Spastic paraplegia;
NM_014363.6(SACS):c.3369TCT[1] (p.Leu1125del)	26278	SACS	Uncertain significance	rs1555252672	RCV000665289;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23914641	23914643	13:g.23914641_23914643del	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.3356del (p.Pro1119fs)	26278	SACS	Pathogenic/Likely pathogenic	rs1057517039	RCV000412109\|RCV001383371\|RCV002524622;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MeSH:D030342,MedGen:C0950123	13	23914659	23914659	13:g.23914659_23914659del	ClinGen:CA16041641	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.3346G>A (p.Gly1116Ser)	26278	SACS	Conflicting interpretations of pathogenicity	rs774044532	RCV001113628\|RCV002556214;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23914669	23914669	13:g.23914669C>T	-
NM_014363.6(SACS):c.3345C>T (p.Val1115=)	26278	SACS	Conflicting interpretations of pathogenicity	rs143287019	RCV000374188\|RCV000860788\|RCV001660627;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MedGen:CN169374	13	23914670	23914670	13:g.23914670G>A	ClinGen:CA6911535	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.3343G>A (p.Val1115Ile)	26278	SACS	Uncertain significance	rs771915442	RCV001207086\|RCV001833820;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23914672	23914672	13:g.23914672C>T	-
NM_014363.6(SACS):c.3328dup (p.Ile1110fs)	26278	SACS	Pathogenic/Likely pathogenic	rs770866403	RCV000169583\|RCV001850406;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23914686	23914687	13:g.23914686_23914687insT	ClinGen:CA274434,OMIM:604490.0005	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.3282C>T (p.Asn1094=)	26278	SACS	Conflicting interpretations of pathogenicity	rs145499245	RCV000537247\|RCV001109612\|RCV001848922;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MONDO:MONDO:0019064,MedGen:C00377	13	23914733	23914733	13:g.23914733G>A	ClinGen:CA6911545	C0037772 Spastic paraplegia;
NM_014363.6(SACS):c.3281dup (p.Asn1094fs)	26278	SACS	Pathogenic/Likely pathogenic	-1	RCV001421039\|RCV001814320;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0011442,MedGen:C4023354	13	23914733	23914734	23914733	-
NM_014363.6(SACS):c.3242C>T (p.Pro1081Leu)	26278	SACS	Uncertain significance	rs377493083	RCV000517189\|RCV001829474;	N	MedGen:CN169374\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23914773	23914773	NC_000013.10:g.23914773G>A	ClinGen:CA246662431	CN169374 not specified;
NM_014363.6(SACS):c.3195_3196del (p.Phe1065fs)	26278	SACS	Likely pathogenic	rs1057516551	RCV000411216;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23914819	23914820	13:g.23914819_23914820del	ClinGen:CA16041642	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.3173T>C (p.Ile1058Thr)	26278	SACS	Uncertain significance	-1	RCV001578940;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23914842	23914842	23914842	-
NM_014363.6(SACS):c.3161T>C (p.Phe1054Ser)	26278	SACS	Pathogenic	rs137853019	RCV000005855;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23914854	23914854	13:g.23914854A>G	ClinGen:CA253518,UniProtKB:Q9NZJ4#VAR_064807,OMIM:604490.0009	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.3159_3160del (p.Leu1053_Phe1054insTer)	26278	SACS	Likely pathogenic	-1	RCV001775262;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23914855	23914856	23914854	-
NM_014363.6(SACS):c.3144A>G (p.Val1048=)	26278	SACS	Conflicting interpretations of pathogenicity	rs3751369	RCV000279611\|RCV000712974\|RCV001081930\|RCV001848104;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MedGen:CN517202\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:00190	13	23914871	23914871	13:g.23914871T>C	ClinGen:CA6911561	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.3129A>G (p.Ser1043=)	26278	SACS	Conflicting interpretations of pathogenicity	rs148878361	RCV000334685\|RCV000372721\|RCV000710205\|RCV001082217\|RCV001847975;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MedGen:CN169374\|MedGen:CN517202\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|M	13	23914886	23914886	13:g.23914886T>C	ClinGen:CA6911564	CN169374 not specified;
NM_014363.6(SACS):c.3096G>A (p.Glu1032=)	26278	SACS	Likely benign	rs529746813	RCV000869782\|RCV001830910;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23914919	23914919	13:g.23914919C>T	-
NM_014363.6(SACS):c.3074A>T (p.Asn1025Ile)	26278	SACS	Conflicting interpretations of pathogenicity	rs150981983	RCV000173863\|RCV001080295\|RCV001277261;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23914941	23914941	13:g.23914941T>A	ClinGen:CA239318	CN169374 not specified;
NM_014363.6(SACS):c.3070A>G (p.Lys1024Glu)	26278	SACS	Uncertain significance	rs1869134973	RCV001278830;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23914945	23914945	13:g.23914945T>C	-
NM_014363.6(SACS):c.3066del (p.Asn1025fs)	26278	SACS	Likely pathogenic	rs1057516767	RCV000412355;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23914949	23914949	13:g.23914949_23914949del	ClinGen:CA16041643	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.3055A>G (p.Asn1019Asp)	26278	SACS	Conflicting interpretations of pathogenicity	rs1566071225	RCV000761547\|RCV002533869;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23914960	23914960	NC_000013.10:g.23914960T>C	-
NM_014363.6(SACS):c.3042A>G (p.Leu1014=)	26278	SACS	Conflicting interpretations of pathogenicity	rs141982796	RCV000399926\|RCV000992787\|RCV001416952;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MedGen:CN517202\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23914973	23914973	13:g.23914973T>C	ClinGen:CA6911574	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.3021_3023del (p.Glu1008del)	26278	SACS	Uncertain significance	rs1555252742	RCV000674580;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23914992	23914994	13:g.23914992_23914994del	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.3017A>G (p.His1006Arg)	26278	SACS	Conflicting interpretations of pathogenicity	rs368149368	RCV000712973\|RCV001271966\|RCV002532945;	N	MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23914998	23914998	NC_000013.10:g.23914998T>C	-
NM_014363.6(SACS):c.2996T>C (p.Ile999Thr)	26278	SACS	Conflicting interpretations of pathogenicity	rs371869943	RCV000373496\|RCV000681647\|RCV002519084;	N	MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23915019	23915019	13:g.23915019A>G	ClinGen:CA6911580	CN169374 not specified;
NM_014363.6(SACS):c.2988A>G (p.Leu996=)	26278	SACS	Conflicting interpretations of pathogenicity	rs111846884	RCV000386665\|RCV000761852\|RCV001086002\|RCV001109613\|RCV001847974;	N	MedGen:CN169374\|MedGen:CN517202\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|M	13	23915027	23915027	13:g.23915027T>C	ClinGen:CA6911582	CN169374 not specified;
NM_014363.6(SACS):c.2983G>T (p.Val995Phe)	26278	SACS	Benign/Likely benign	rs142967124	RCV000203008\|RCV000761853\|RCV001109614\|RCV001086025\|RCV001847912;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|M	13	23915032	23915032	NC_000013.10:g.23915032C>A	ClinGen:CA249209	CN169374 not specified;
NM_014363.6(SACS):c.2957T>A (p.Leu986Ter)	26278	SACS	Likely pathogenic	rs766457071	RCV000409140;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23915058	23915058	NC_000013.10:g.23915058A>T	ClinGen:CA6911585	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.2938_2939del (p.Met980fs)	26278	SACS	Pathogenic	rs1593133306	RCV000850594;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23915076	23915077	13:g.23915076_23915077del	-
NM_014363.6(SACS):c.2929C>T (p.Leu977=)	26278	SACS	Likely benign	rs146296924	RCV000840234\|RCV001083492\|RCV001277262;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23915086	23915086	13:g.23915086G>A	-
NM_014363.6(SACS):c.2926C>A (p.Arg976Ser)	26278	SACS	Conflicting interpretations of pathogenicity	rs139993038	RCV000516574\|RCV001109615\|RCV001081341\|RCV001644611\|RCV001848892;	N	MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MedGen:CN169374\|M	13	23915089	23915089	NC_000013.10:g.23915089G>T	ClinGen:CA6911590	CN169374 not specified;
NM_014363.6(SACS):c.2926C>T (p.Arg976Cys)	26278	SACS	Conflicting interpretations of pathogenicity	rs139993038	RCV001239667\|RCV001828927\|RCV002567936;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MeSH:D030342,MedGen:C0950123	13	23915089	23915089	13:g.23915089G>A	-
NM_014363.6(SACS):c.2913_2914dup (p.Glu972fs)	26278	SACS	Likely pathogenic	rs1057517034	RCV000409133;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23915100	23915101	13:g.23915100_23915101insCA	ClinGen:CA16041644	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.2903_2906del (p.Asp968fs)	26278	SACS	Pathogenic	rs1259615333	RCV000664233\|RCV000691411;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23915109	23915112	13:g.23915109_23915112del	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.2904C>T (p.Asp968=)	26278	SACS	Likely benign	-1	RCV001504618\|RCV001832666;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23915111	23915111	23915111	-
NM_014363.6(SACS):c.2888C>G (p.Ser963Cys)	26278	SACS	Uncertain significance	-1	RCV002470624;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23915127	23915127	NC_000013.10:g.23915127G>C	-
NM_014363.6(SACS):c.2881C>T (p.Arg961Ter)	26278	SACS	Pathogenic	rs1593133395	RCV000793079\|RCV001830692;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23915134	23915134	13:g.23915134G>A	-
NM_014363.6(SACS):c.2870del (p.Pro957fs)	26278	SACS	Likely pathogenic	rs1057516624	RCV000411525;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23915145	23915145	13:g.23915145_23915145del	ClinGen:CA16041645	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.2863A>T (p.Lys955Ter)	26278	SACS	Likely pathogenic	rs1555252786	RCV000667512;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23915152	23915152	13:g.23915152T>A	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.2853C>A (p.His951Gln)	26278	SACS	Uncertain significance	rs200644511	RCV000558806\|RCV001835846\|RCV002473048;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MedGen:CN517202	13	23915162	23915162	13:g.23915162G>T	ClinGen:CA6911606	C0037772 Spastic paraplegia;
NM_014363.6(SACS):c.2829dup (p.Leu944fs)	26278	SACS	Likely pathogenic	rs1869162207	RCV001255707;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23915185	23915186	13:g.23915185_23915186insT	-
NM_014363.6(SACS):c.2830T>C (p.Leu944=)	26278	SACS	Likely benign	-1	RCV001457710\|RCV001832593;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23915185	23915185	23915185	-
NM_014363.6(SACS):c.2806C>A (p.Gln936Lys)	26278	SACS	Conflicting interpretations of pathogenicity	rs61978562	RCV001288712\|RCV001830102\|RCV002069552;	N	MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23915209	23915209	23915209	-
NM_014363.6(SACS):c.2791A>T (p.Asn931Tyr)	26278	SACS	Conflicting interpretations of pathogenicity	rs190383030	RCV001111914\|RCV001479507\|RCV002556181;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MeSH:D030342,MedGen:C0950123	13	23915224	23915224	13:g.23915224T>A	-
NM_014363.6(SACS):c.2788A>G (p.Ile930Val)	26278	SACS	Conflicting interpretations of pathogenicity	rs886050088	RCV000313588\|RCV000700339;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23915227	23915227	NC_000013.10:g.23915227T>C	ClinGen:CA10639237	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.2776A>G (p.Ile926Val)	26278	SACS	Conflicting interpretations of pathogenicity	rs144362131	RCV000712972\|RCV001111915\|RCV001257223\|RCV001849073;	N	MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:00190	13	23915239	23915239	NC_000013.10:g.23915239T>C	-
NM_014363.6(SACS):c.2733C>T (p.Thr911=)	26278	SACS	Likely benign	rs199702597	RCV000869149\|RCV001278831;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23915282	23915282	13:g.23915282G>A	-
NM_014363.6(SACS):c.2726G>T (p.Ser909Ile)	26278	SACS	Uncertain significance	-1	RCV002261952\|RCV002488656;	N	MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23915289	23915289	23915289	-
NM_014363.6(SACS):c.2699_2700del (p.Lys900fs)	26278	SACS	Pathogenic/Likely pathogenic	rs1167474602	RCV000667508\|RCV001385440;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23915315	23915316	13:g.23915315_23915316del	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.2686C>T (p.Leu896Phe)	26278	SACS	Conflicting interpretations of pathogenicity	rs760556327	RCV000992785\|RCV001832307\|RCV002549810;	N	MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23915329	23915329	13:g.23915329G>A	-
NM_014363.6(SACS):c.2681C>T (p.Ser894Leu)	26278	SACS	Conflicting interpretations of pathogenicity	rs201857647	RCV000349604\|RCV000712971\|RCV001080014\|RCV001706475;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MedGen:CN517202\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MedGen:CN169374	13	23915334	23915334	NC_000013.10:g.23915334G>A	ClinGen:CA6911646	CN169374 not specified;
NM_014363.6(SACS):c.2643G>C (p.Glu881Asp)	26278	SACS	Conflicting interpretations of pathogenicity	rs200517685	RCV000173860\|RCV000400126\|RCV001085181;	N	MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23915372	23915372	13:g.23915372C>G	ClinGen:CA239314	CN169374 not specified;
NM_014363.6(SACS):c.2629_2630dup (p.Leu877fs)	26278	SACS	Likely pathogenic	rs1057516829	RCV000410288;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23915384	23915385	13:g.23915384_23915385insAA	ClinGen:CA16041646	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.2627_2631del (p.Val876fs)	26278	SACS	Likely pathogenic	rs1555252844	RCV000672777;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23915384	23915388	13:g.23915384_23915388del	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.2614_2619del (p.Leu872_Pro873del)	26278	SACS	Uncertain significance	rs771746381	RCV000672019\|RCV002252206\|RCV002473103;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|\|MedGen:CN517202	13	23915396	23915401	13:g.23915396_23915401del	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.2602A>G (p.Ile868Val)	26278	SACS	Conflicting interpretations of pathogenicity	rs142284018	RCV000518481\|RCV000820462\|RCV001111916\|RCV001848891\|RCV002525072;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MONDO:MONDO:00190	13	23915413	23915413	NC_000013.10:g.23915413T>C	ClinGen:CA6911659	CN169374 not specified;
NM_014363.6(SACS):c.2599T>C (p.Tyr867His)	26278	SACS	Uncertain significance	rs774682589	RCV000560347\|RCV001783032\|RCV001508705;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MedGen:CN517202	13	23915416	23915416	NC_000013.10:g.23915416A>G	ClinGen:CA6911660	C0037772 Spastic paraplegia;
NM_014363.6(SACS):c.2597A>G (p.Lys866Arg)	26278	SACS	Conflicting interpretations of pathogenicity	rs761960824	RCV001336181\|RCV002546765;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23915418	23915418	23915418	-
NM_014363.6(SACS):c.2585C>T (p.Pro862Leu)	26278	SACS	Conflicting interpretations of pathogenicity	rs776290829	RCV001288711\|RCV001830101\|RCV002537977\|RCV002541792;	N	MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MeSH:D030342,MedGen:C0950123\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedG	13	23915430	23915430	23915430	-
NM_014363.6(SACS):c.2581C>T (p.His861Tyr)	26278	SACS	Uncertain significance	rs759265754	RCV000814972\|RCV001830785;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23915434	23915434	13:g.23915434G>A	-
NM_014363.6(SACS):c.2580A>G (p.Gln860=)	26278	SACS	Conflicting interpretations of pathogenicity	rs41283958	RCV000712969\|RCV000765125\|RCV001087176\|RCV001849072;	N	MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:00190	13	23915435	23915435	NC_000013.10:g.23915435T>C	-
NM_014363.6(SACS):c.2564T>G (p.Leu855Ter)	26278	SACS	Likely pathogenic	rs142037771	RCV000669728;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23915451	23915451	13:g.23915451A>C	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.2564T>C (p.Leu855Ser)	26278	SACS	Conflicting interpretations of pathogenicity	-1	RCV001847529\|RCV002482393\|RCV002543362;	N	MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontolo	13	23915451	23915451	23915451	-
NM_014363.6(SACS):c.2551G>T (p.Val851Phe)	26278	SACS	Uncertain significance	rs756890722	RCV000545527\|RCV001834757\|RCV001848921;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MONDO:MONDO:0019064,MedGen:C00377	13	23915464	23915464	13:g.23915464C>A	ClinGen:CA6911670	C0037772 Spastic paraplegia;
NM_014363.6(SACS):c.2533C>T (p.Gln845Ter)	26278	SACS	Likely pathogenic	rs1555252876	RCV000664830;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23915482	23915482	13:g.23915482G>A	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.2497G>A (p.Glu833Lys)	26278	SACS	Conflicting interpretations of pathogenicity	rs143433500	RCV000309988\|RCV000517722\|RCV000529780;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MedGen:CN517202\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23915518	23915518	NC_000013.10:g.23915518C>T	ClinGen:CA6911678	CN169374 not specified;
NM_014363.6(SACS):c.2494T>C (p.Ser832Pro)	26278	SACS	Likely benign	rs549957998	RCV000863911\|RCV001277263;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23915521	23915521	13:g.23915521A>G	-
NM_014363.6(SACS):c.2492A>G (p.Glu831Gly)	26278	SACS	Conflicting interpretations of pathogenicity	rs375968367	RCV000700961\|RCV001271967\|RCV002473121\|RCV002533606;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MedGen:CN517202\|MeSH:D030342,MedG	13	23915523	23915523	13:g.23915523T>C	-	C0037772 Spastic paraplegia;
NM_014363.6(SACS):c.2488G>A (p.Asp830Asn)	26278	SACS	Conflicting interpretations of pathogenicity	rs571646732	RCV001112373\|RCV002556195;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23915527	23915527	13:g.23915527C>T	-
NM_014363.6(SACS):c.2487C>T (p.Asp829=)	26278	SACS	Conflicting interpretations of pathogenicity	rs151198216	RCV000364679\|RCV000867241;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23915528	23915528	NC_000013.10:g.23915528G>A	ClinGen:CA6911682	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.2472G>A (p.Ser824=)	26278	SACS	Likely benign	rs554395185	RCV000870183\|RCV001825751;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23915543	23915543	13:g.23915543C>T	-
NM_014363.6(SACS):c.2451_2452insT (p.Ile818fs)	26278	SACS	Likely pathogenic	rs1555252926	RCV000668817;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23915563	23915564	13:g.23915563_23915564insA	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.2451C>T (p.Leu817=)	26278	SACS	Likely benign	rs756595744	RCV000871764\|RCV001277264\|RCV001410793;	N	MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23915564	23915564	13:g.23915564G>A	-
NM_014363.6(SACS):c.2439_2440del (p.Val815fs)	26278	SACS	Pathogenic/Likely pathogenic	rs775059063	RCV000169208\|RCV000992783\|RCV001382654\|RCV001814081;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MedGen:CN517202\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|Human Phenotype O	13	23915575	23915576	13:g.23915575_23915576del	ClinGen:CA274046	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.2438_2439del (p.Thr813fs)	26278	SACS	Likely pathogenic	rs1555252928	RCV000672354;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23915576	23915577	13:g.23915576_23915577del	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.2434C>T (p.Gln812Ter)	26278	SACS	Likely pathogenic	rs1555252929	RCV000674140;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23915581	23915581	13:g.23915581G>A	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.2403A>G (p.Pro801=)	26278	SACS	Likely benign	rs758503842	RCV000898797\|RCV001277265;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23915612	23915612	13:g.23915612T>C	-
NM_014363.6(SACS):c.2330C>A (p.Ser777Ter)	26278	SACS	Likely pathogenic	rs1057517437	RCV000409346;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23915685	23915685	NC_000013.10:g.23915685G>T	ClinGen:CA16041647	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.2329dup (p.Ser777fs)	26278	SACS	Likely pathogenic	rs1555252944	RCV000673181;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23915685	23915686	13:g.23915685_23915686insA	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.2322A>G (p.Pro774=)	26278	SACS	Likely benign	rs1869225328	RCV001278832\|RCV001413369;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23915693	23915693	13:g.23915693T>C	-
NM_014363.6(SACS):c.2294A>G (p.Tyr765Cys)	26278	SACS	Conflicting interpretations of pathogenicity	rs141553858	RCV000688531\|RCV001756169\|RCV001784312;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23915721	23915721	NC_000013.10:g.23915721T>C	-	C0037772 Spastic paraplegia;
NM_014363.6(SACS):c.2287C>T (p.Gln763Ter)	26278	SACS	Likely pathogenic	rs1555252953	RCV000671096;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23915728	23915728	13:g.23915728G>A	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.2278T>C (p.Leu760=)	26278	SACS	Likely benign	-1	RCV001494678\|RCV001826329;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23915737	23915737	23915737	-
NM_014363.6(SACS):c.2234G>A (p.Arg745His)	26278	SACS	Conflicting interpretations of pathogenicity	rs143677534	RCV000555876\|RCV001088901\|RCV001271968;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23915781	23915781	13:g.23915781C>T	ClinGen:CA6911721	C0037772 Spastic paraplegia;
NM_014363.6(SACS):c.2225G>C (p.Arg742Pro)	26278	SACS	Uncertain significance	-1	RCV001647239;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23915790	23915790	23915790	-
NM_014363.6(SACS):c.2225G>A (p.Arg742Gln)	26278	SACS	Uncertain significance	-1	RCV001847527\|RCV002478077;	N	MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23915790	23915790	23915790	-
NM_014363.6(SACS):c.2224C>T (p.Arg742Ter)	26278	SACS	Pathogenic/Likely pathogenic	rs1057517285	RCV000412381\|RCV002523873;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23915791	23915791	NC_000013.10:g.23915791G>A	ClinGen:CA16041648	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.2186-2A>G	26278	SACS	Likely pathogenic	rs1057516554	RCV000410645;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23915831	23915831	13:g.23915831T>C	ClinGen:CA16041649	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.2186-4A>G	26278	SACS	Conflicting interpretations of pathogenicity	rs371866995	RCV000664864\|RCV001512029;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23915833	23915833	13:g.23915833T>C	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.2182C>T (p.Arg728Ter)	26278	SACS	Pathogenic/Likely pathogenic	rs752059006	RCV000393719\|RCV000454220\|RCV000984212\|RCV001848046\|RCV001859535;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0012443,MedGen:C4021085\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:H	13	23927927	23927927	13:g.23927927G>A	ClinGen:CA6911751	C4021085 Abnormality of brain morphology;
NM_014363.6(SACS):c.2182C>G (p.Arg728Gly)	26278	SACS	Conflicting interpretations of pathogenicity	rs752059006	RCV000992782\|RCV001277266\|RCV002550646;	N	MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23927927	23927927	13:g.23927927G>C	-
NM_014363.6(SACS):c.2146C>T (p.His716Tyr)	26278	SACS	Benign/Likely benign	rs146852400	RCV000712966\|RCV001509573\|RCV001081696\|RCV001356419\|RCV001849011;	N	MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MedGen:CN169374\|M	13	23927963	23927963	NC_000013.10:g.23927963G>A	ClinGen:CA6911762	C0037772 Spastic paraplegia;
NM_014363.6(SACS):c.2110C>A (p.Leu704Ile)	26278	SACS	Uncertain significance	rs767844042	RCV000270117;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23927999	23927999	NC_000013.10:g.23927999G>T	ClinGen:CA10639241	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.2096C>T (p.Ser699Phe)	26278	SACS	Uncertain significance	rs374680967	RCV000992781\|RCV001271969;	N	MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23928013	23928013	13:g.23928013G>A	-
NM_014363.6(SACS):c.2080G>A (p.Ala694Thr)	26278	SACS	Benign	rs17325713	RCV000234475\|RCV000250154\|RCV000624974\|RCV000676368\|RCV001847973;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MedGen:CN169374\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MedGen:CN517202\|M	13	23928671	23928671	13:g.23928671C>T	ClinGen:CA6911796,UniProtKB:Q9NZJ4#VAR_059717	CN517202 not provided;
NM_014363.6(SACS):c.2076del (p.Ser693fs)	26278	SACS	Likely pathogenic	rs1057516224	RCV000411780;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23928675	23928675	NC_000013.10:g.23928676del	ClinGen:CA16041650	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.2060del (p.Asp687fs)	26278	SACS	Pathogenic	-1	RCV000005857;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23928691	23928691	23928690	OMIM:604490.0011
NM_014363.6(SACS):c.2037CTC[1] (p.Ser682del)	26278	SACS	Uncertain significance	rs764516069	RCV001288710\|RCV001835373;	N	MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23928709	23928711	23928708	-
NM_014363.6(SACS):c.2024A>G (p.Asn675Ser)	26278	SACS	Conflicting interpretations of pathogenicity	rs146395198	RCV000712965\|RCV001244618\|RCV001784352;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23928727	23928727	NC_000013.10:g.23928727T>C	-
NM_014363.6(SACS):c.2023A>T (p.Asn675Tyr)	26278	SACS	Likely benign	rs374667929	RCV000633046\|RCV001835013;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23928728	23928728	NC_000013.10:g.23928728T>A	ClinGen:CA6911809	C0037772 Spastic paraplegia;
NM_014363.6(SACS):c.1990C>T (p.Leu664Phe)	26278	SACS	Uncertain significance	-1	RCV003142728;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23928761	23928761	NC_000013.10:g.23928761G>A	-
NM_014363.6(SACS):c.1968_1969del (p.Asp657fs)	26278	SACS	Likely pathogenic	-1	RCV002310490;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23928782	23928783	23928781	-
NM_014363.6(SACS):c.1941G>T (p.Lys647Asn)	26278	SACS	Uncertain significance	-1	RCV001367103\|RCV001732142\|RCV001847251;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MONDO:MONDO:0019064,MedGen:C00377	13	23928810	23928810	23928810	-
NM_014363.6(SACS):c.1929T>A (p.Cys643Ter)	26278	SACS	Likely pathogenic	-1	RCV002310335;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23928822	23928822	23928822	-
NM_014363.6(SACS):c.1919_1920del (p.His640fs)	26278	SACS	Pathogenic	rs797045937	RCV000192515;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23928831	23928832	NC_000013.10:g.23928832TG[1]	ClinGen:CA276979	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.1917A>G (p.Ala639=)	26278	SACS	Conflicting interpretations of pathogenicity	rs138457742	RCV000710204\|RCV001078709\|RCV001283505\|RCV001782774;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MedGen:CN169374\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23928834	23928834	13:g.23928834T>C	ClinGen:CA6911818	CN169374 not specified;
NM_014363.6(SACS):c.1913G>A (p.Cys638Tyr)	26278	SACS	Conflicting interpretations of pathogenicity	rs778572943	RCV000862304\|RCV001088293\|RCV001277267;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23928838	23928838	13:g.23928838C>T	-
NM_014363.6(SACS):c.1912T>G (p.Cys638Gly)	26278	SACS	Conflicting interpretations of pathogenicity	rs200333323	RCV000306464\|RCV001288709\|RCV001400059\|RCV001848105;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MedGen:CN517202\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:00190	13	23928839	23928839	NC_000013.10:g.23928839A>C	ClinGen:CA6911820	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.1907G>A (p.Arg636Gln)	26278	SACS	Uncertain significance	rs368944813	RCV000819244\|RCV001508706\|RCV001784447;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23928844	23928844	13:g.23928844C>T	-
NM_014363.6(SACS):c.1906C>T (p.Arg636Trp)	26278	SACS	Conflicting interpretations of pathogenicity	rs201752905	RCV000676369\|RCV001049324\|RCV001113725;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23928845	23928845	13:g.23928845G>A	-	CN517202 not provided;
NM_014363.6(SACS):c.1886C>T (p.Ala629Val)	26278	SACS	Uncertain significance	rs760505057	RCV000530995\|RCV001829566;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23928865	23928865	13:g.23928865G>A	ClinGen:CA6911832	C0037772 Spastic paraplegia;
NM_014363.6(SACS):c.1885G>A (p.Ala629Thr)	26278	SACS	Conflicting interpretations of pathogenicity	rs149638449	RCV000518207\|RCV001083870\|RCV001113726\|RCV001848890\|RCV002525071;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MONDO:MONDO:00190	13	23928866	23928866	NC_000013.10:g.23928866C>T	ClinGen:CA6911833	CN169374 not specified;
NM_014363.6(SACS):c.1884C>T (p.Pro628=)	26278	SACS	Benign/Likely benign	rs144468379	RCV000866995\|RCV001277268\|RCV001288708;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MedGen:CN169374	13	23928867	23928867	13:g.23928867G>A	-
NM_014363.6(SACS):c.1846G>C (p.Ala616Pro)	26278	SACS	Conflicting interpretations of pathogenicity	rs200437752	RCV000712964\|RCV000812548\|RCV001784351;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23928905	23928905	NC_000013.10:g.23928905C>G	-
NM_014363.6(SACS):c.1839_1840insGCGTCACCTTC (p.Leu614fs)	26278	SACS	Likely pathogenic	-1	RCV002308366;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23928911	23928912	23928911	-
NM_014363.6(SACS):c.1839G>A (p.Gln613=)	26278	SACS	Benign/Likely benign	rs35840595	RCV000247615\|RCV000361137\|RCV000676370\|RCV001084224\|RCV001848027;	N	MedGen:CN169374\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MedGen:CN517202\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|M	13	23928912	23928912	13:g.23928912C>T	ClinGen:CA6911843	CN517202 not provided;
NM_014363.6(SACS):c.1814C>T (p.Pro605Leu)	26278	SACS	Likely pathogenic	-1	RCV001729997;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23928937	23928937	23928937	-
NM_014363.6(SACS):c.1807A>T (p.Lys603Ter)	26278	SACS	Likely pathogenic	-1	RCV002306456;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23928944	23928944	23928944	-
NM_014363.6(SACS):c.1799A>G (p.Gln600Arg)	26278	SACS	Uncertain significance	rs1348513054	RCV000516359\|RCV001829473;	N	MedGen:CN169374\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23928952	23928952	13:g.23928952T>C	ClinGen:CA387546434	CN169374 not specified;
NM_014363.6(SACS):c.1791A>T (p.Ser597=)	26278	SACS	Conflicting interpretations of pathogenicity	rs371175405	RCV000633109\|RCV001113727;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23928960	23928960	13:g.23928960T>A	ClinGen:CA6911850	C0037772 Spastic paraplegia;
NM_014363.6(SACS):c.1769_1770del (p.Val590fs)	26278	SACS	Pathogenic	-1	RCV001849514\|RCV001389169;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23928981	23928982	23928980	-
NM_014363.6(SACS):c.1762A>G (p.Lys588Glu)	26278	SACS	Uncertain significance	rs376186273	RCV001113728\|RCV002556220;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23928989	23928989	13:g.23928989T>C	-
NM_014363.6(SACS):c.1752A>G (p.Leu584=)	26278	SACS	Conflicting interpretations of pathogenicity	rs368626712	RCV000871517\|RCV001277269\|RCV001847087;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MONDO:MONDO:0019064,MedGen:C00377	13	23928999	23928999	13:g.23928999T>C	-
NM_014363.6(SACS):c.1728C>T (p.Tyr576=)	26278	SACS	Conflicting interpretations of pathogenicity	rs750748828	RCV000266493\|RCV000875331;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23929023	23929023	NC_000013.10:g.23929023G>A	ClinGen:CA6911860	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.1716_1717del (p.Glu573fs)	26278	SACS	Likely pathogenic	-1	RCV002309552;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23929034	23929035	23929033	-
NM_014363.6(SACS):c.1683G>A (p.Val561=)	26278	SACS	Likely benign	rs1485932032	RCV000929475\|RCV001826940;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23929068	23929068	13:g.23929068C>T	-
NM_014363.6(SACS):c.1681del (p.Ala560_Val561insTer)	26278	SACS	Likely pathogenic	rs1057516543	RCV000410889;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23929070	23929070	13:g.23929070_23929070del	ClinGen:CA16041651	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.1672C>T (p.Gln558Ter)	26278	SACS	Pathogenic/Likely pathogenic	rs923921184	RCV000627327\|RCV001065954\|RCV001785684\|RCV001849000;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MONDO:MONDO:00190	13	23929079	23929079	NC_000013.10:g.23929079G>A	ClinGen:CA387547285
NM_014363.6(SACS):c.1656A>G (p.Leu552=)	26278	SACS	Benign/Likely benign	rs1536365	RCV000118231\|RCV000321187\|RCV000676371\|RCV001517661\|RCV001847719;	N	MedGen:CN169374\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MedGen:CN517202\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|M	13	23929095	23929095	13:g.23929095T>C	ClinGen:CA155042	CN517202 not provided;
NM_014363.6(SACS):c.1640C>T (p.Pro547Leu)	26278	SACS	Conflicting interpretations of pathogenicity	rs140507581	RCV000375874\|RCV002520870;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23929111	23929111	NC_000013.10:g.23929111G>A	ClinGen:CA6911879,ClinVar:424657	C0037773 Hereditary spastic paraplegia;
NM_014363.6(SACS):c.1636C>T (p.Gln546Ter)	26278	SACS	Likely pathogenic	-1	RCV002288393;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23929115	23929115	23929115	-
NM_014363.6(SACS):c.1627G>A (p.Val543Met)	26278	SACS	Uncertain significance	rs752705095	RCV001336180\|RCV002547351;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MeSH:D030342,MedGen:C0950123	13	23929124	23929124	23929124	-
NM_014363.6(SACS):c.1608G>A (p.Pro536=)	26278	SACS	Conflicting interpretations of pathogenicity	rs745730439	RCV000262582\|RCV001504466;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23929143	23929143	NC_000013.10:g.23929143C>T	ClinGen:CA6911885	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.1607C>T (p.Pro536Leu)	26278	SACS	Conflicting interpretations of pathogenicity	rs1440541889	RCV000523535\|RCV000674260\|RCV001851489;	N	MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23929144	23929144	NC_000013.10:g.23929144G>A	ClinGen:CA387547599
NM_014363.6(SACS):c.1596T>A (p.Tyr532Ter)	26278	SACS	Likely pathogenic	-1	RCV001775261;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23929155	23929155	23929155	-
NM_014363.6(SACS):c.1593C>T (p.Ile531=)	26278	SACS	Conflicting interpretations of pathogenicity	rs113756713	RCV000861032\|RCV001109712\|RCV001552523\|RCV001849134;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MedGen:CN517202\|MONDO:MONDO:00190	13	23929158	23929158	13:g.23929158G>A	-
NM_014363.6(SACS):c.1593C>G (p.Ile531Met)	26278	SACS	Uncertain significance	-1	RCV001578938;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23929158	23929158	23929158	-
NM_014363.6(SACS):c.1569_1570delinsCTGTCTCTTATACACA (p.Phe524fs)	26278	SACS	Likely pathogenic	-1	RCV002307218;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23929181	23929182	23929181	-
NM_014363.6(SACS):c.1562G>C (p.Ser521Thr)	26278	SACS	Conflicting interpretations of pathogenicity	rs190617851	RCV000697081\|RCV001271970\|RCV001756213;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MedGen:CN517202	13	23929189	23929189	13:g.23929189C>G	-	C0037772 Spastic paraplegia;
NM_014363.6(SACS):c.1519A>G (p.Thr507Ala)	26278	SACS	Conflicting interpretations of pathogenicity	rs372022664	RCV000518256\|RCV001271971\|RCV001409443;	N	MedGen:CN169374\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23929232	23929232	NC_000013.10:g.23929232T>C	ClinGen:CA6911906	CN169374 not specified;
NM_014363.6(SACS):c.1498G>A (p.Val500Ile)	26278	SACS	Conflicting interpretations of pathogenicity	rs1244967438	RCV000992780\|RCV001827138\|RCV002550645;	N	MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23929253	23929253	13:g.23929253C>T	-
NM_014363.6(SACS):c.1483T>A (p.Phe495Ile)	26278	SACS	Likely benign	rs748972179	RCV000552873\|RCV001834756;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23929268	23929268	13:g.23929268A>T	ClinGen:CA6911908	C0037772 Spastic paraplegia;
NM_014363.6(SACS):c.1464G>A (p.Pro488=)	26278	SACS	Likely benign	rs375352514	RCV000866167\|RCV001278833;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23929287	23929287	13:g.23929287C>T	-
NM_014363.6(SACS):c.1463C>T (p.Pro488Leu)	26278	SACS	Conflicting interpretations of pathogenicity	rs375875022	RCV000317718\|RCV000464896\|RCV000712962\|RCV001848106;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MedGen:CN517202\|MONDO:MONDO:00190	13	23929288	23929288	NC_000013.10:g.23929288G>A	ClinGen:CA6911912	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.1455G>A (p.Trp485Ter)	26278	SACS	Likely pathogenic	-1	RCV002309096;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23929296	23929296	23929296	-
NM_014363.6(SACS):c.1444C>G (p.Leu482Val)	26278	SACS	Conflicting interpretations of pathogenicity	rs141487769	RCV001109713\|RCV002069778;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23929307	23929307	13:g.23929307G>C	-
NM_014363.6(SACS):c.1437G>A (p.Trp479Ter)	26278	SACS	Likely pathogenic	-1	RCV002309654;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23929314	23929314	23929314	-
NM_014363.6(SACS):c.1435_1436insTTT (p.Lys478_Trp479insPhe)	26278	SACS	Uncertain significance	rs1555254306	RCV000668148;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23929315	23929316	13:g.23929315_23929316insAAA	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.1420C>T (p.Arg474Cys)	26278	SACS	Uncertain significance	rs746704660	RCV000664537;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23929331	23929331	13:g.23929331G>A	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.1391T>G (p.Ile464Ser)	26278	SACS	Uncertain significance	rs1593144937	RCV000992779\|RCV001832306\|RCV001869375;	N	MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23929360	23929360	13:g.23929360A>C	-
NM_014363.6(SACS):c.1387C>A (p.His463Asn)	26278	SACS	Uncertain significance	rs149951538	RCV001288707\|RCV001830100;	N	MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23929364	23929364	23929364	-
NM_014363.6(SACS):c.1378C>T (p.Leu460Phe)	26278	SACS	Conflicting interpretations of pathogenicity	rs145213666	RCV000861435\|RCV001288706\|RCV001277270\|RCV001849142;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MONDO:MONDO:00190	13	23929373	23929373	13:g.23929373G>A	-
NM_014363.6(SACS):c.1374A>G (p.Thr458=)	26278	SACS	Benign/Likely benign	rs149129638	RCV000866381\|RCV001277271\|RCV001288705;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MedGen:CN169374	13	23929377	23929377	13:g.23929377T>C	-
NM_014363.6(SACS):c.1373C>T (p.Thr458Ile)	26278	SACS	Conflicting interpretations of pathogenicity	rs61729954	RCV000516147\|RCV000603816\|RCV000676372\|RCV001082461\|RCV001844110;	N	MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MedGen:CN517202\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human	13	23929378	23929378	13:g.23929378G>A	ClinGen:CA6911923	C0037773 Hereditary spastic paraplegia;
NM_014363.6(SACS):c.1358del (p.Gly453fs)	26278	SACS	Pathogenic	-1	RCV001391617\|RCV001880216;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23929393	23929393	23929392	-
NM_014363.6(SACS):c.1332A>G (p.Ala444=)	26278	SACS	Likely benign	rs1039811925	RCV000938140\|RCV001826979\|RCV002066167;	N	MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23929419	23929419	13:g.23929419T>C	-
NM_014363.6(SACS):c.1331C>G (p.Ala444Gly)	26278	SACS	Uncertain significance	rs951437363	RCV001278834;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23929420	23929420	13:g.23929420G>C	-
NM_014363.6(SACS):c.1310C>T (p.Thr437Met)	26278	SACS	Conflicting interpretations of pathogenicity	rs199657817	RCV000992777\|RCV001832304\|RCV002550644;	N	MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23929441	23929441	13:g.23929441G>A	-
NM_014363.6(SACS):c.1297G>C (p.Ala433Pro)	26278	SACS	Benign	rs770677319	RCV001052446\|RCV001277272;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23929454	23929454	13:g.23929454C>G	-
NM_014363.6(SACS):c.1278A>T (p.Leu426Phe)	26278	SACS	Conflicting interpretations of pathogenicity	rs138413501	RCV000372498\|RCV001060561;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23929473	23929473	NC_000013.10:g.23929473T>A	ClinGen:CA6911935	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.1276_1277dup (p.Leu426fs)	26278	SACS	Likely pathogenic	rs1057516406	RCV000409220;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23929473	23929474	13:g.23929473_23929474insAA	ClinGen:CA16041652	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.1259T>C (p.Ile420Thr)	26278	SACS	Conflicting interpretations of pathogenicity	rs761791412	RCV001112020\|RCV002555083\|RCV002556187;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MeSH:D030342,MedGen:C0950123\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23929492	23929492	13:g.23929492A>G	-
NM_014363.6(SACS):c.1228_1229del (p.Leu410fs)	26278	SACS	Pathogenic/Likely pathogenic	rs1057516365	RCV000411818\|RCV001384946;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23929522	23929523	13:g.23929522_23929523del	ClinGen:CA16041653	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.1224C>T (p.Asp408=)	26278	SACS	Conflicting interpretations of pathogenicity	rs2274386	RCV000296723\|RCV000862553\|RCV001079181;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MedGen:CN517202\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23929527	23929527	NC_000013.10:g.23929527G>A	ClinGen:CA6911949	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.1219C>A (p.Leu407Ile)	26278	SACS	Conflicting interpretations of pathogenicity	rs201569239	RCV000333051\|RCV002472984\|RCV001848107\|RCV002520871;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MedGen:CN517202\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human	13	23929532	23929532	NC_000013.10:g.23929532G>T	ClinGen:CA6911950	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.1201C>T (p.Arg401Ter)	26278	SACS	Pathogenic/Likely pathogenic	rs769212398	RCV001046270\|RCV001261525;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23929550	23929550	13:g.23929550G>A	-
NM_014363.6(SACS):c.1185_1194del (p.Cys395fs)	26278	SACS	Pathogenic	-1	RCV000005856;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23929557	23929566	23929556	OMIM:604490.0010
NM_014363.6(SACS):c.1189_1190del (p.Ser397fs)	26278	SACS	Pathogenic/Likely pathogenic	rs1057516625	RCV000409079\|RCV001243148;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23929561	23929562	13:g.23929561_23929562del	ClinGen:CA16041654	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.1178T>A (p.Leu393Ter)	26278	SACS	Likely pathogenic	-1	RCV002307885;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23929573	23929573	23929573	-
NM_014363.6(SACS):c.1173T>C (p.Ser391=)	26278	SACS	Uncertain significance	rs150683286	RCV000387597;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23929578	23929578	NC_000013.10:g.23929578A>G	ClinGen:CA6911960	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.1173T>A (p.Ser391=)	26278	SACS	Likely benign	rs150683286	RCV000666880\|RCV002532057;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23929578	23929578	13:g.23929578A>T	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.1152T>G (p.Thr384=)	26278	SACS	Benign	rs185643322	RCV000867239\|RCV001278835;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23929599	23929599	13:g.23929599A>C	-
NM_014363.6(SACS):c.1137dup (p.Glu380fs)	26278	SACS	Pathogenic/Likely pathogenic	rs1057516987	RCV000411406\|RCV001850954;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23929613	23929614	13:g.23929613_23929614insT	ClinGen:CA16041655	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.1126_1127del (p.Asn376fs)	26278	SACS	Likely pathogenic	-1	RCV002310272;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23929624	23929625	23929623	-
NM_014363.6(SACS):c.1105_1106del (p.Thr369fs)	26278	SACS	Likely pathogenic	-1	RCV002308007;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23929645	23929646	23929644	-
NM_014363.6(SACS):c.1085del (p.Lys362fs)	26278	SACS	Likely pathogenic	rs1057517242	RCV000410403;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23929666	23929666	NC_000013.10:g.23929670del	ClinGen:CA16041656	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.1081A>G (p.Lys361Glu)	26278	SACS	Conflicting interpretations of pathogenicity	rs377027736	RCV000293298\|RCV000992772\|RCV001500911;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MedGen:CN517202\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23929670	23929670	13:g.23929670T>C	ClinGen:CA6911975	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.1066A>C (p.Ile356Leu)	26278	SACS	Conflicting interpretations of pathogenicity	rs148286091	RCV000392351\|RCV000676373\|RCV001083937\|RCV001782775;	N	MedGen:CN169374\|MedGen:CN517202\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23929685	23929685	13:g.23929685T>G	ClinGen:CA6911977	CN517202 not provided;
NM_014363.6(SACS):c.1066A>G (p.Ile356Val)	26278	SACS	Conflicting interpretations of pathogenicity	rs148286091	RCV000348179\|RCV001848108\|RCV001660628\|RCV002522279;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685\|MedGen:CN517202\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human	13	23929685	23929685	NC_000013.10:g.23929685T>C	ClinGen:CA6911978	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.1061C>G (p.Thr354Ser)	26278	SACS	Conflicting interpretations of pathogenicity	rs1425519295	RCV000821539\|RCV000992770\|RCV001784452;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23929690	23929690	13:g.23929690G>C	-
NM_014363.6(SACS):c.1033C>T (p.Arg345Trp)	26278	SACS	Uncertain significance	rs776156836	RCV000466492\|RCV000519338\|RCV001271972;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23929718	23929718	NC_000013.10:g.23929718G>A	ClinGen:CA6911986	CN169374 not specified;
NM_014363.6(SACS):c.1004C>T (p.Ser335Leu)	26278	SACS	Conflicting interpretations of pathogenicity	rs767435985	RCV000673666\|RCV001849042\|RCV002060828;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontolo	13	23929747	23929747	13:g.23929747G>A	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.998_999del (p.Val333fs)	26278	SACS	Likely pathogenic	-1	RCV002307953;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23929752	23929753	23929751	-
NM_014363.6(SACS):c.973G>A (p.Gly325Arg)	26278	SACS	Conflicting interpretations of pathogenicity	rs144303334	RCV000518798\|RCV001083131\|RCV001112021;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23929778	23929778	NC_000013.10:g.23929778C>T	ClinGen:CA6911994	CN169374 not specified;
NM_014363.6(SACS):c.972C>A (p.Asp324Glu)	26278	SACS	Conflicting interpretations of pathogenicity	rs546652936	RCV000676374\|RCV001083526\|RCV001112022;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23929779	23929779	NC_000013.10:g.23929779G>T	ClinGen:CA6911995	CN517202 not provided;
NM_014363.6(SACS):c.972C>T (p.Asp324=)	26278	SACS	Likely benign	-1	RCV001496153\|RCV001832649;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23929779	23929779	23929779	-
NM_014363.6(SACS):c.964G>T (p.Glu322Ter)	26278	SACS	Likely pathogenic	rs1593145590	RCV000991449;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23929787	23929787	13:g.23929787C>A	-
NM_014363.6(SACS):c.961C>T (p.Arg321Ter)	26278	SACS	Pathogenic	rs1175545518	RCV000671337\|RCV001090243\|RCV001868253;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MedGen:CN517202\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23929790	23929790	13:g.23929790G>A	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.954A>G (p.Leu318=)	26278	SACS	Conflicting interpretations of pathogenicity	rs147412202	RCV000390104\|RCV002520872;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23929797	23929797	NC_000013.10:g.23929797T>C	ClinGen:CA6911998	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.944A>G (p.Asp315Gly)	26278	SACS	Conflicting interpretations of pathogenicity	rs771115225	RCV000289676\|RCV002520873;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23929807	23929807	NC_000013.10:g.23929807T>C	ClinGen:CA6912001	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.914_915del (p.Thr305fs)	26278	SACS	Pathogenic	-1	RCV001391616;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23929836	23929837	23929835	-
NM_014363.6(SACS):c.909A>G (p.Ala303=)	26278	SACS	Benign/Likely benign	rs41315020	RCV000249605\|RCV000344542\|RCV000465285\|RCV000676375;	N	MedGen:CN169374\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MedGen:CN517202	13	23929842	23929842	13:g.23929842T>C	ClinGen:CA6912006	CN517202 not provided;
NM_014363.6(SACS):c.892_895delinsAC (p.Ser298fs)	26278	SACS	Likely pathogenic	-1	RCV002309327;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23929856	23929859	23929856	-
NM_014363.6(SACS):c.884T>A (p.Leu295Ter)	26278	SACS	Likely pathogenic	-1	RCV002309741;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23929867	23929867	23929867	-
NM_014363.6(SACS):c.861C>T (p.Tyr287=)	26278	SACS	Conflicting interpretations of pathogenicity	rs200877272	RCV000869346\|RCV001081486\|RCV001112464;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23929890	23929890	13:g.23929890G>A	-
NM_014363.6(SACS):c.848GTA[1] (p.Ser284del)	26278	SACS	Uncertain significance	rs1555254436	RCV000668760;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23929898	23929900	13:g.23929898_23929900del	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.832C>T (p.Gln278Ter)	26278	SACS	Pathogenic/Likely pathogenic	rs1555254439	RCV000666383;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23929919	23929919	13:g.23929919G>A	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.827G>A (p.Arg276His)	26278	SACS	Uncertain significance	-1	RCV002289231;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23929924	23929924	23929924	-
NM_014363.6(SACS):c.818T>A (p.Phe273Tyr)	26278	SACS	Uncertain significance	rs182864646	RCV000633042\|RCV001829781;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23929933	23929933	NC_000013.10:g.23929933A>T	ClinGen:CA6912019	C0037772 Spastic paraplegia;
NM_014363.6(SACS):c.815G>A (p.Arg272His)	26278	SACS	Pathogenic/Likely pathogenic	rs745907077	RCV000670029\|RCV001855535;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23929936	23929936	13:g.23929936C>T	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.814C>T (p.Arg272Cys)	26278	SACS	Pathogenic/Likely pathogenic	rs374128662	RCV000612398\|RCV000824757\|RCV001380372\|RCV001591363;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MONDO:MONDO:0100309,MedGen:C0004138, Orphanet:183518\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:00072	13	23929937	23929937	NC_000013.10:g.23929937G>A	ClinGen:CA246678438	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.810T>G (p.Phe270Leu)	26278	SACS	Conflicting interpretations of pathogenicity	rs116907814	RCV000517365\|RCV000728923\|RCV001085212\|RCV001112465\|RCV001848897;	N	MedGen:CN517202\|MedGen:CN169374\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|M	13	23929941	23929941	13:g.23929941A>C	ClinGen:CA6912021	CN169374 not specified;
NM_014363.6(SACS):c.742_743del (p.Ala248fs)	26278	SACS	Likely pathogenic	-1	RCV002310427;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23930008	23930009	23930007	-
NM_014363.6(SACS):c.736C>G (p.Gln246Glu)	26278	SACS	Uncertain significance	rs886050089	RCV000398546;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23930015	23930015	NC_000013.10:g.23930015G>C	ClinGen:CA10639246	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.699del (p.Asp235fs)	26278	SACS	Pathogenic	rs1415870785	RCV001287911\|RCV001391615;	N	MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23930052	23930052	23930051	-
NM_014363.6(SACS):c.696T>A (p.Asn232Lys)	26278	SACS	Benign/Likely benign	rs2031640	RCV000118233\|RCV000304888\|RCV000676376\|RCV001517662\|RCV001847721;	N	MedGen:CN169374\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MedGen:CN517202\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|M	13	23930055	23930055	13:g.23930055A>T	ClinGen:CA155046,UniProtKB:Q9NZJ4#VAR_059716	CN517202 not provided;
NM_014363.6(SACS):c.622_640del (p.Ser208fs)	26278	SACS	Likely pathogenic	-1	RCV002306868;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23930111	23930129	23930110	-
NM_014363.6(SACS):c.623G>T (p.Ser208Ile)	26278	SACS	Conflicting interpretations of pathogenicity	rs911764681	RCV000522663\|RCV000674847\|RCV001224412;	N	MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23930128	23930128	NC_000013.10:g.23930128C>A	ClinGen:CA246678645
NM_014363.6(SACS):c.605-1G>A	26278	SACS	Likely pathogenic	rs1555254489	RCV000668193;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23930147	23930147	13:g.23930147C>T	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.604+1G>A	26278	SACS	Likely pathogenic	rs1555254734	RCV000666450;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23932473	23932473	13:g.23932473C>T	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.598A>G (p.Ile200Val)	26278	SACS	Benign	rs762268076	RCV001067073\|RCV001277273;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23932480	23932480	13:g.23932480T>C	-
NM_014363.6(SACS):c.593A>G (p.Tyr198Cys)	26278	SACS	Uncertain significance	rs1461096954	RCV000516715\|RCV001834670\|RCV002527520;	N	MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23932485	23932485	13:g.23932485T>C	ClinGen:CA387551889	CN169374 not specified;
NM_014363.6(SACS):c.579del (p.Phe194fs)	26278	SACS	Likely pathogenic	-1	RCV002309883;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23932499	23932499	23932498	-
NM_014363.6(SACS):c.563_564del (p.Gly188fs)	26278	SACS	Likely pathogenic	-1	RCV002307329;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23932514	23932515	23932513	-
NM_014363.6(SACS):c.562G>A (p.Gly188Arg)	26278	SACS	Likely pathogenic	rs780184251	RCV000988966;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23932516	23932516	13:g.23932516C>T	-
NM_014363.6(SACS):c.561C>T (p.Val187=)	26278	SACS	Conflicting interpretations of pathogenicity	-1	RCV001392388\|RCV003136066;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23932517	23932517	23932517	-
NM_014363.6(SACS):c.559G>T (p.Val187Phe)	26278	SACS	Uncertain significance	rs1344578174	RCV000814678\|RCV001825636;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23932519	23932519	13:g.23932519C>A	-
NM_014363.6(SACS):c.554_555del (p.Leu185fs)	26278	SACS	Likely pathogenic	-1	RCV002310072;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23932523	23932524	23932522	-
NM_014363.6(SACS):c.542del (p.Lys181fs)	26278	SACS	Likely pathogenic	-1	RCV002309947;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23932536	23932536	23932535	-
NM_014363.6(SACS):c.529A>T (p.Arg177Ter)	26278	SACS	Likely pathogenic	-1	RCV002310305;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23932549	23932549	23932549	-
NM_014363.6(SACS):c.520G>T (p.Glu174Ter)	26278	SACS	Likely pathogenic	-1	RCV002266460;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23932558	23932558	23932558	-
NM_014363.6(SACS):c.497del (p.Pro166fs)	26278	SACS	Likely pathogenic	-1	RCV002308283;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23932581	23932581	23932580	-
NM_014363.6(SACS):c.494C>T (p.Thr165Ile)	26278	SACS	Uncertain significance	rs1419027987	RCV000712977\|RCV001835937;	N	MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23932584	23932584	NC_000013.10:g.23932584G>A	-
NM_014363.6(SACS):c.482A>G (p.Asn161Ser)	26278	SACS	Uncertain significance	rs746069731	RCV001289173\|RCV001830106;	N	MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23932596	23932596	23932596	-
NM_014363.6(SACS):c.475T>C (p.Tyr159His)	26278	SACS	Uncertain significance	rs1305721973	RCV001221388\|RCV001836169;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23932603	23932603	13:g.23932603A>G	-
NM_014363.6(SACS):c.475T>G (p.Tyr159Asp)	26278	SACS	Likely pathogenic	-1	RCV001843706;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23932603	23932603	23932603	-
NM_014363.6(SACS):c.470_471del (p.Tyr157fs)	26278	SACS	Pathogenic	-1	RCV001962227\|RCV002272512;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23932607	23932608	23932606	-
NM_014363.6(SACS):c.470A>G (p.Tyr157Cys)	26278	SACS	Uncertain significance	-1	RCV002987377\|RCV003140206;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23932608	23932608	NC_000013.10:g.23932608T>C	-
NM_014363.6(SACS):c.468_469insG (p.Tyr157fs)	26278	SACS	Likely pathogenic	rs1057516820	RCV000409711;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23932609	23932610	NC_000013.10:g.23932609_23932610insC	ClinGen:CA16041657	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.447G>A (p.Ala149=)	26278	SACS	Conflicting interpretations of pathogenicity	rs145681117	RCV001113813\|RCV001489166;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23939315	23939315	13:g.23939315C>T	-
NM_014363.6(SACS):c.434C>G (p.Ser145Ter)	26278	SACS	Pathogenic/Likely pathogenic	rs994374354	RCV000819151\|RCV000992789\|RCV001785730;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23939328	23939328	13:g.23939328G>C	-
NM_014363.6(SACS):c.432G>T (p.Trp144Cys)	26278	SACS	Uncertain significance	rs368570790	RCV000804533\|RCV000995043\|RCV001277274;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23939330	23939330	13:g.23939330C>A	-
NM_014363.6(SACS):c.396A>G (p.Leu132=)	26278	SACS	Likely benign	rs1256540997	RCV000866363\|RCV001272280;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23939366	23939366	13:g.23939366T>C	-
NM_014363.6(SACS):c.382_383del (p.Glu128fs)	26278	SACS	Pathogenic/Likely pathogenic	rs757179309	RCV001062044\|RCV001289169\|RCV001785775;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23939379	23939380	13:g.23939379_23939380del	-
NM_014363.6(SACS):c.346-3T>A	26278	SACS	Uncertain significance	rs186506382	RCV000457852\|RCV001828484;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23939419	23939419	NC_000013.10:g.23939419A>T	ClinGen:CA6912110	C0037772 Spastic paraplegia;
NM_014363.6(SACS):c.345+14C>T	26278	SACS	Uncertain significance	rs538944334	RCV000359589;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23942527	23942527	NC_000013.10:g.23942527G>A	ClinGen:CA6912122	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.343A>T (p.Lys115Ter)	26278	SACS	Likely pathogenic	-1	RCV002306974;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23942543	23942543	23942543	-
NM_014363.6(SACS):c.262C>T (p.Arg88Ter)	26278	SACS	Pathogenic	rs1555255676	RCV000677658\|RCV001816685\|RCV002305528\|RCV002544685;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MedGen:CN517202\|MONDO:MONDO:0010549,MedGen:C0393808,OMIM:302800, Orphanet:101075\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human	13	23942624	23942624	13:g.23942624G>A	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.247T>C (p.Leu83=)	26278	SACS	Uncertain significance	rs1470292816	RCV000712968\|RCV001825424;	N	MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23945229	23945229	NC_000013.10:g.23945229A>G	-
NM_014363.6(SACS):c.192_193delinsA (p.Gly65fs)	26278	SACS	Likely pathogenic	-1	RCV002307933;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23945283	23945284	23945283	-
NM_014363.6(SACS):c.175T>A (p.Ser59Thr)	26278	SACS	Conflicting interpretations of pathogenicity	rs539836931	RCV001043293\|RCV001759750\|RCV001784587;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23945301	23945301	13:g.23945301A>T	-
NM_014363.6(SACS):c.171+13C>T	26278	SACS	Conflicting interpretations of pathogenicity	rs374672041	RCV000250510\|RCV000393585\|RCV001566241\|RCV002058247;	N	MedGen:CN169374\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MedGen:CN517202\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23949245	23949245	13:g.23949245G>A	ClinGen:CA6912178	CN169374 not specified;
NM_014363.6(SACS):c.171+6C>T	26278	SACS	Benign/Likely benign	rs3751368	RCV000242640\|RCV000300554\|RCV000676377\|RCV001521433;	N	MedGen:CN169374\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MedGen:CN517202\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23949252	23949252	13:g.23949252G>A	ClinGen:CA6912180	CN517202 not provided;
NM_014363.6(SACS):c.169G>C (p.Glu57Gln)	26278	SACS	Uncertain significance	rs1021024627	RCV001113814;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23949260	23949260	13:g.23949260C>G	-
NM_014363.6(SACS):c.159C>G (p.Arg53=)	26278	SACS	Likely benign	rs968138431	RCV000869629\|RCV001272281\|RCV001470967;	N	MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23949270	23949270	13:g.23949270G>C	-
NM_014363.6(SACS):c.151C>T (p.Leu51=)	26278	SACS	Conflicting interpretations of pathogenicity	rs979224977	RCV000865792\|RCV001113815;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23949278	23949278	13:g.23949278G>A	-
NM_014363.6(SACS):c.141G>A (p.Ser47=)	26278	SACS	Likely benign	rs1593160882	RCV000802602\|RCV001830733;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23949288	23949288	13:g.23949288C>T	-
NM_014363.6(SACS):c.134C>T (p.Pro45Leu)	26278	SACS	Conflicting interpretations of pathogenicity	rs1033188876	RCV000518000\|RCV001835834\|RCV002527517;	N	MedGen:CN169374\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23949295	23949295	13:g.23949295G>A	ClinGen:CA13805936	CN169374 not specified;
NM_014363.6(SACS):c.110G>A (p.Arg37His)	26278	SACS	Conflicting interpretations of pathogenicity	rs866539724	RCV000522808\|RCV001834696\|RCV002525178;	N	MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23949319	23949319	NC_000013.10:g.23949319C>T	ClinGen:CA387554542
NM_014363.6(SACS):c.99T>C (p.Asp33=)	26278	SACS	Conflicting interpretations of pathogenicity	rs775206528	RCV000355437\|RCV000863241\|RCV001083423\|RCV001288381;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MedGen:CN517202\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MedGen:CN169374	13	23949330	23949330	NC_000013.10:g.23949330A>G	ClinGen:CA6912185	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.83C>T (p.Ser28Phe)	26278	SACS	Conflicting interpretations of pathogenicity	rs1365453773	RCV000633012\|RCV001835012\|RCV002529815;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MeSH:D030342,MedGen:C0950123	13	23949346	23949346	NC_000013.10:g.23949346G>A	ClinGen:CA387554637	C0037772 Spastic paraplegia;
NM_014363.6(SACS):c.60C>T (p.Cys20=)	26278	SACS	Conflicting interpretations of pathogenicity	rs932552006	RCV001109790\|RCV001462819;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23949369	23949369	13:g.23949369G>A	-
NM_014363.6(SACS):c.51C>T (p.Cys17=)	26278	SACS	Likely benign	rs763979020	RCV000863921\|RCV001272282;	N	Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23949378	23949378	13:g.23949378G>A	-
NM_014363.6(SACS):c.47G>T (p.Gly16Val)	26278	SACS	Conflicting interpretations of pathogenicity	rs886050090	RCV000260394\|RCV000712975\|RCV002520874;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MedGen:CN517202\|Human Phenotype Ontology:HP:0001258,Human Phenotype Ontology:HP:0007062,Human Phenotype Ontology:HP:0007124,Human Phenotype Ontology:HP:0007216,MedGen:C0037772	13	23949382	23949382	NC_000013.10:g.23949382C>A	ClinGen:CA10643120	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.29del (p.Pro10fs)	26278	SACS	Likely pathogenic	rs1057516837	RCV000409439;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23949400	23949400	13:g.23949400_23949400del	ClinGen:CA16041658	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.25_27delinsTT (p.Val9fs)	26278	SACS	Likely pathogenic	-1	RCV002309095;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23949402	23949404	23949402	-
NM_014363.6(SACS):c.25G>A (p.Val9Ile)	26278	SACS	Uncertain significance	rs939705811	RCV001333046;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23949404	23949404	23949404	-
NM_014363.6(SACS):c.21-162C>G	26278	SACS	Likely benign	-1	RCV001590778\|RCV002506698;	N	MedGen:CN517202\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23949570	23949570	23949570	-
NM_014363.6(SACS):c.2T>C (p.Met1Thr)	26278	SACS	Likely pathogenic	rs1417057515	RCV000666635;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23985377	23985377	13:g.23985377A>G	-	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.1A>G (p.Met1Val)	26278	SACS	Likely pathogenic	rs771943685	RCV000409645;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23985378	23985378	NC_000013.10:g.23985378T>C	ClinGen:CA6912209	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.-13A>G	26278	SACS	Benign/Likely benign	rs17078720	RCV000248762\|RCV000315880\|RCV001618448;	N	MedGen:CN169374\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MedGen:CN517202	13	23985391	23985391	NC_000013.10:g.23985391T>C	ClinGen:CA6912215	CN169374 not specified;
NM_014363.6(SACS):c.-59C>A	26278	SACS	Uncertain significance	rs150561537	RCV000370452;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23985437	23985437	NC_000013.10:g.23985437G>T	ClinGen:CA10634082	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.-70G>A	26278	SACS	Uncertain significance	rs575970347	RCV000275839;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23985448	23985448	NC_000013.10:g.23985448C>T	ClinGen:CA10644044	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.-173C>A	26278	SACS	Uncertain significance	rs139517739	RCV000330947;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23985551	23985551	NC_000013.10:g.23985551G>T	ClinGen:CA10639249	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.-219A>G	26278	SACS	Conflicting interpretations of pathogenicity	rs74495070	RCV000385634\|RCV001559393;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MedGen:CN517202	13	23985597	23985597	13:g.23985597T>C	ClinGen:CA10643121	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.-331A>C	26278	SACS	Uncertain significance	rs560626127	RCV000291246;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23985709	23985709	13:g.23985709T>G	ClinGen:CA10634085	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.-367C>A	26278	SACS	Uncertain significance	rs145469796	RCV000327697;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23985745	23985745	13:g.23985745G>T	ClinGen:CA10643125	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.-470C>T	26278	SACS	Uncertain significance	rs748973703	RCV000382222;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23985848	23985848	13:g.23985848G>A	ClinGen:CA10643128	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.-489G>A	26278	SACS	Uncertain significance	rs886050091	RCV000287898;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23985867	23985867	13:g.23985867C>T	ClinGen:CA10634087	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.-502+2T>G	26278	SACS	Uncertain significance	rs1874525003	RCV001110577;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	24007752	24007752	13:g.24007752A>C	-
NM_014363.6(SACS):c.-531G>A	26278	SACS	Uncertain significance	rs73154650	RCV000342904;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	24007783	24007783	13:g.24007783C>T	ClinGen:CA10643132	C1849140 270550 Spastic ataxia Charlevoix-Saguenay type;
NM_014363.6(SACS):c.4934G>C (p.Arg1645Pro)	-1	SACS;SACS-AS1	Likely pathogenic	-1	RCV002305692;	N	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23913081	23913081	23913081	-
NM_000231.3(SGCG):c.705T>C (p.Leu235=)	-1	SACS;SGCG	Benign/Likely benign	rs1800353	RCV000078407\|RCV000278365\|RCV000293880\|RCV000373060\|RCV000710216\|RCV001113157;	N	MedGen:CN169374\|MedGen:CN239352\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MONDO:MONDO:0009677,MedGen:C0410173,OMIM:253700, Orphanet:353\|MedGen:CN517202\|MONDO:MONDO:0016140,MedGen:C2936331, Orphanet:207052	13	23898509	23898509	13:g.23898509T>C	ClinGen:CA145907	CN239352 Limb-Girdle Muscular Dystrophy, Recessive;
NM_000231.3(SGCG):c.860A>G (p.Asn287Ser)	-1	SACS;SGCG	Benign	rs1800354	RCV000153942\|RCV000348757\|RCV000988963;	N	MedGen:CN169374\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MONDO:MONDO:0009677,MedGen:C0410173,OMIM:253700, Orphanet:353	13	23898664	23898664	13:g.23898664A>G	ClinGen:CA180430	CN169374 not specified;
NM_000231.3(SGCG):c.*13C>T	-1	SACS;SGCG	Benign/Likely benign	rs9510701	RCV000078402\|RCV000304530\|RCV000393997\|RCV000398630\|RCV001114521;	N	MedGen:CN169374\|MedGen:CN239352\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MONDO:MONDO:0009677,MedGen:C0410173,OMIM:253700, Orphanet:353\|MONDO:MONDO:0016140,MedGen:C2936331, Orphanet:207052	13	23898693	23898693	13:g.23898693C>T	ClinGen:CA145896	CN239352 Limb-Girdle Muscular Dystrophy, Recessive;
NM_000231.3(SGCG):c.*136T>C	-1	SACS;SGCG	Benign/Likely benign	rs3751372	RCV000273729\|RCV000299676\|RCV000312413\|RCV001110485\|RCV001683256;	N	MONDO:MONDO:0009677,MedGen:C0410173,OMIM:253700, Orphanet:353\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MedGen:CN239352\|MONDO:MONDO:0016140,MedGen:C2936331, Orphanet:207052\|MedGen:CN517202	13	23898816	23898816	NC_000013.10:g.23898816T>C	ClinGen:CA10634033	CN239352 Limb-Girdle Muscular Dystrophy, Recessive;
NM_000231.3(SGCG):c.*254G>A	-1	SACS;SGCG	Benign/Likely benign	rs3751371	RCV000315861\|RCV000354144\|RCV000372732\|RCV000394244\|RCV001111245\|RCV001642891;	N	MONDO:MONDO:0009677,MedGen:C0410173,OMIM:253700, Orphanet:353\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MedGen:CN239352\|MedGen:CN169374\|MONDO:MONDO:0016140,MedGen:C2936331, Orphanet:207052\|MedGen:CN517202	13	23898934	23898934	13:g.23898934G>A	ClinGen:CA10606084	CN239352 Limb-Girdle Muscular Dystrophy, Recessive;
NM_000231.3(SGCG):c.*295T>C	-1	SACS;SGCG	Benign/Likely benign	rs3829352	RCV000261794\|RCV000319133\|RCV000391543\|RCV001111247\|RCV001653527;	N	MONDO:MONDO:0009677,MedGen:C0410173,OMIM:253700, Orphanet:353\|MedGen:CN239352\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MONDO:MONDO:0016140,MedGen:C2936331, Orphanet:207052\|MedGen:CN517202	13	23898975	23898975	NC_000013.10:g.23898975T>C	ClinGen:CA10639182	CN239352 Limb-Girdle Muscular Dystrophy, Recessive;
NM_014363.6(SACS):c.*1046CTTTA[1]	-1	SACS;SGCG	Likely benign	rs66920661	RCV000305184\|RCV000359875\|RCV000400201;	N	MONDO:MONDO:0009677,MedGen:C0410173,OMIM:253700, Orphanet:353\|MedGen:CN239352\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23903220	23903224	13:g.23903220_23903224del	ClinGen:CA10634034	CN239352 Limb-Girdle Muscular Dystrophy, Recessive;
NM_014363.6(SACS):c.*677C>T	-1	SGCG;SACS	Likely benign	rs200375761	RCV000265271\|RCV000320434\|RCV000391991;	N	MedGen:CN239352\|MONDO:MONDO:0009677,MedGen:C0410173,OMIM:253700, Orphanet:353\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98	13	23903598	23903598	13:g.23903598G>A	ClinGen:CA6909895	CN239352 Limb-Girdle Muscular Dystrophy, Recessive;
NM_014363.6(SACS):c.*484T>C	-1	SGCG;SACS	Likely benign	rs4770433	RCV000271293\|RCV000315525\|RCV000365800;	N	MedGen:CN239352\|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550, Orphanet:98\|MONDO:MONDO:0009677,MedGen:C0410173,OMIM:253700, Orphanet:353	13	23903791	23903791	13:g.23903791A>G	ClinGen:CA10639216	CN239352 Limb-Girdle Muscular Dystrophy, Recessive;

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