Total 33 pathogenic variants reported for Spinocerebellar ataxia type 3 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_198994.3(TGM6):c.1550T>G (p.Leu517Trp) SNV
Germline		 Chr20:2417445 Conflicting classifications of pathogenicity Spinocerebellar ataxia type 35
Acute myeloid leukemia
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA259991 rs_387907097

6 SubmittersRCV000024080RCV000077795RCV001659727RCV002054471
NM_022726.4(ELOVL4):c.504G>C (p.Leu168Phe) SNV
Germline		 Chr6:79921662 Pathogenic Spinocerebellar ataxia type 34
Stargardt disease 3
Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome
Spinocerebellar ataxia type 34
ELOVL4-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA170078 rs_587777598

3 SubmittersRCV000132563RCV002483274RCV003479020
NM_021814.5(ELOVL5):c.689G>T (p.Gly230Val) SNV
Germline		 Chr6:53270660 Pathogenic Spinocerebellar ataxia type 38 No Assertion Criteria Provided
 CA170635 rs_587777670

2 SubmittersRCV000133587
NM_021814.5(ELOVL5):c.214C>G (p.Leu72Val) SNV
Germline		 Chr6:53291808 Pathogenic Spinocerebellar ataxia type 38 No Assertion Criteria Provided
 CA170638 rs_587777671

2 SubmittersRCV000133588
NM_198994.3(TGM6):c.331C>T (p.Arg111Cys) SNV
Germline		 Chr20:2395343 Pathogenic Spinocerebellar ataxia type 35 No Assertion Criteria Provided
 CA274770 rs_372250159

1 SubmittersRCV000170474
NM_021814.5(ELOVL5):c.698A>G (p.Tyr233Cys) SNV
Germline		 Chr6:53270651 Conflicting classifications of pathogenicity not specified
Condition: not provided
Spinocerebellar ataxia type 38		 Criteria Provided
Conflicting Classifications
 CA209264 rs_41273880

3 SubmittersRCV000194832RCV000898740RCV001270037
NM_198994.3(TGM6):c.115A>T (p.Ser39Cys) SNV
Germline		 Chr20:2394559 Conflicting classifications of pathogenicity Inborn genetic diseases
Condition: not provided
Spinocerebellar ataxia type 35
TGM6-related disorder		 Criteria Provided
Conflicting Classifications
 CA357983 rs_144201778

7 SubmittersRCV000210538RCV000993304RCV001137367RCV003897460
NM_022726.4(ELOVL4):c.351T>A (p.Asn117Lys) SNV
Germline		 Chr6:79924970 Conflicting classifications of pathogenicity Stargardt disease 3
Condition: not provided
Spinocerebellar ataxia type 34
Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome
Stargardt disease 3
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA3901551 rs_148018494

6 SubmittersRCV000262008RCV000595647RCV000765894RCV002524509
NM_198994.3(TGM6):c.835G>A (p.Gly279Arg) SNV
Germline		 Chr20:2399723 Conflicting classifications of pathogenicity Spinocerebellar ataxia type 35
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA9731833 rs_375595045

4 SubmittersRCV000340921RCV001289338RCV002520003
NM_198994.3(TGM6):c.940G>A (p.Val314Met) SNV
Germline		 Chr20:2400395 Conflicting classifications of pathogenicity Spinocerebellar ataxia type 35
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA9731889 rs_202184911

5 SubmittersRCV000343783RCV000901318RCV001288076
NM_198994.3(TGM6):c.727G>A (p.Gly243Ser) SNV
Germline		 Chr20:2399615 Conflicting classifications of pathogenicity Spinocerebellar ataxia type 35
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA9731796 rs_202245813

3 SubmittersRCV000279869RCV000518244RCV003765966
NM_022726.4(ELOVL4):c.736T>G (p.Trp246Gly) SNV
Germline		 Chr6:79916817 Pathogenic Spinocerebellar ataxia type 34
Condition: not provided		 Criteria Provided
Single Submitter
 CA364655962 rs_1131692036

2 SubmittersRCV000494690RCV000522609
NM_022726.4(ELOVL4):c.512T>C (p.Ile171Thr) SNV
Germline		 Chr6:79921654 Pathogenic/Likely pathogenic Spinocerebellar ataxia type 34
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA364656490 rs_1554162301

3 SubmittersRCV000504460RCV001662494
NM_198994.3(TGM6):c.1089T>C (p.Ser363=) SNV
Germline		 Chr20:2403496 Conflicting classifications of pathogenicity not specified
Spinocerebellar ataxia type 35
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA9731955 rs_762242728

3 SubmittersRCV000517842RCV001139702RCV003718257
NM_022726.4(ELOVL4):c.698C>T (p.Thr233Met) SNV
Germline		 Chr6:79916855 Conflicting classifications of pathogenicity Condition: not provided
Spinocerebellar ataxia type 34
ELOVL4-related disorder		 Criteria Provided
Conflicting Classifications
 rs_1554162016

7 SubmittersRCV000659060RCV001809734RCV003994070
NM_198994.3(TGM6):c.621C>A (p.Asp207Glu) SNV
Germline		 Chr20:2397995 Conflicting classifications of pathogenicity Spinocerebellar ataxia type 35
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_148696208

3 SubmittersRCV001140368RCV000993321
NM_198994.3(TGM6):c.38G>A (p.Arg13Gln) SNV
Germline		 Chr20:2394482 Conflicting classifications of pathogenicity Spinocerebellar ataxia type 35
Condition: not provided
TGM6-related disorder		 Criteria Provided
Conflicting Classifications
 rs_201694328

4 SubmittersRCV001137366RCV001432313RCV003928732
NM_198994.3(TGM6):c.390C>T (p.Gly130=) SNV
Germline		 Chr20:2395402 Conflicting classifications of pathogenicity Spinocerebellar ataxia type 35
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_751704232

2 SubmittersRCV001139605RCV003727897
NM_198994.3(TGM6):c.834C>T (p.Ala278=) SNV
Germline		 Chr20:2399722 Conflicting classifications of pathogenicity Spinocerebellar ataxia type 35
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_371740473

2 SubmittersRCV001142228RCV002557028
NM_198994.3(TGM6):c.1170C>T (p.Phe390=) SNV
Germline		 Chr20:2403657 Conflicting classifications of pathogenicity Spinocerebellar ataxia type 35
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_765423180

2 SubmittersRCV001140464RCV003558707
NM_198994.3(TGM6):c.543+7A>G SNV
Germline		 Chr20:2396631 Conflicting classifications of pathogenicity Spinocerebellar ataxia type 35
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_755777005

2 SubmittersRCV001140366RCV002559358
NM_198994.3(TGM6):c.850+4C>T SNV
Germline		 Chr20:2399742 Conflicting classifications of pathogenicity Spinocerebellar ataxia type 35
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_765181893

2 SubmittersRCV001137485RCV002556927
NM_198994.3(TGM6):c.990-6T>C SNV
Germline		 Chr20:2403391 Conflicting classifications of pathogenicity Spinocerebellar ataxia type 35
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_370391681

2 SubmittersRCV001139700RCV002559349
NM_198994.3(TGM6):c.1005G>A (p.Trp335Ter) SNV
Germline		 Chr20:2403412 Likely pathogenic Spinocerebellar ataxia type 35 Criteria Provided
Single Submitter
 rs_750743855

1 SubmittersRCV001327983
NM_006392.4(NOP56):c.909G>A (p.Ala303=) SNV
Unknown		 Chr20:2655746 Likely pathogenic Spinocerebellar ataxia type 36 No Assertion Criteria Provided
 rs_1295942947

1 SubmittersRCV001849220
NM_198994.3(TGM6):c.1336+1G>T SNV
Germline		 Chr20:2403824 Pathogenic Spinocerebellar ataxia type 35 Criteria Provided
Single Submitter
 rs_2122376594

1 SubmittersRCV001730101
NM_198994.3(TGM6):c.1024C>T (p.Arg342Trp) SNV
Germline		 Chr20:2403431 Likely pathogenic Spinocerebellar ataxia type 35 Criteria Provided
Single Submitter
 rs_150566697

1 SubmittersRCV001807926