Total 44 pathogenic variants reported for Spinocerebellar ataxia type 5 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_006946.4(SPTBN2):c.758T>C (p.Leu253Pro) SNV
Germline		 Chr11:66713645 Pathogenic Spinocerebellar ataxia type 5
Condition: not provided		 Criteria Provided
Single Submitter
 CA253456 rs_121918306

2 SubmittersRCV000005593RCV001682706
NM_006946.4(SPTBN2):c.1438C>T (p.Arg480Trp) SNV
Germline		 Chr11:66707731 Conflicting classifications of pathogenicity Spinocerebellar ataxia type 5
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA264227 rs_397514749

8 SubmittersRCV000054554RCV001568501RCV004965272
NM_006946.4(SPTBN2):c.157+5G>A SNV
Germline		 Chr11:66721079 Conflicting classifications of pathogenicity Spinocerebellar ataxia type 5
Condition: not provided
Autosomal recessive spinocerebellar ataxia 14
SPTBN2-related disorder		 Criteria Provided
Conflicting Classifications
 CA241619 rs_150159444

10 SubmittersRCV000612761RCV000713027RCV001103772RCV004752774
NM_006946.4(SPTBN2):c.470T>C (p.Ile157Thr) SNV
Germline		 Chr11:66715235 Likely pathogenic Spinocerebellar ataxia type 5 Criteria Provided
Single Submitter
 CA10576252 rs_875989881

1 SubmittersRCV000211499
NM_006946.4(SPTBN2):c.4985+12G>A SNV
Germline		 Chr11:66692958 Conflicting classifications of pathogenicity Spinocerebellar ataxia type 5
Autosomal recessive spinocerebellar ataxia 14
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA6128421 rs_199692345

2 SubmittersRCV000296166RCV000406616RCV002056226
NM_006946.4(SPTBN2):c.6242G>A (p.Arg2081Gln) SNV
Germline		 Chr11:66688301 Conflicting classifications of pathogenicity Autosomal dominant cerebellar ataxia
Condition: not provided
Autosomal recessive spinocerebellar ataxia 14
Spinocerebellar ataxia type 5
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA6128006 rs_764407421

5 SubmittersRCV000306514RCV000523983RCV000660459RCV003258752
NM_006946.4(SPTBN2):c.5950-9C>T SNV
Germline		 Chr11:66689189 Conflicting classifications of pathogenicity Spinocerebellar ataxia type 5
Autosomal recessive spinocerebellar ataxia 14
Condition: not provided
SPTBN2-related disorder		 Criteria Provided
Conflicting Classifications
 CA6128085 rs_554781314

3 SubmittersRCV000321582RCV001105038RCV002056224RCV003930294
NM_006946.4(SPTBN2):c.3116G>A (p.Arg1039Gln) SNV
Germline		 Chr11:66700983 Conflicting classifications of pathogenicity Autosomal dominant cerebellar ataxia
Condition: not provided
not specified
Spinocerebellar ataxia type 5		 Criteria Provided
Conflicting Classifications
 CA6128931 rs_148826890

5 SubmittersRCV000346859RCV000882266RCV001289200RCV001786359
NM_006946.4(SPTBN2):c.-22-10C>A SNV
Germline		 Chr11:66721272 Conflicting classifications of pathogenicity Spinocerebellar ataxia type 5
Autosomal recessive spinocerebellar ataxia 14		 Criteria Provided
Conflicting Classifications
 CA6129795 rs_200435327

1 SubmittersRCV000407526RCV001106830
NM_006946.4(SPTBN2):c.1654-13G>A SNV
Germline		 Chr11:66705850 Conflicting classifications of pathogenicity Spinocerebellar ataxia type 5
Autosomal recessive spinocerebellar ataxia 14
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA6129298 rs_200980512

2 SubmittersRCV000341436RCV001105511RCV002056229
NM_006946.4(SPTBN2):c.3722A>G (p.Glu1241Gly) SNV
Germline		 Chr11:66699460 Conflicting classifications of pathogenicity not specified
Condition: not provided
Inborn genetic diseases
Spinocerebellar ataxia type 5
Autosomal recessive spinocerebellar ataxia 14		 Criteria Provided
Conflicting Classifications
 CA6128793 rs_141683210

5 SubmittersRCV000516584RCV000585497RCV004023525RCV002244993
NM_006946.4(SPTBN2):c.92C>T (p.Ser31Leu) SNV
Germline		 Chr11:66721149 Conflicting classifications of pathogenicity Condition: not provided
Spinocerebellar ataxia type 5
Autosomal recessive spinocerebellar ataxia 14
Inborn genetic diseases
not specified		 Criteria Provided
Conflicting Classifications
 CA6129776 rs_147766428

5 SubmittersRCV000585022RCV002244994RCV002525090RCV005000089
NM_006946.4(SPTBN2):c.1307T>C (p.Met436Thr) SNV
Germline		 Chr11:66708184 Likely pathogenic Condition: not provided
Spinocerebellar ataxia type 5		 Criteria Provided
Multiple Submitters
No Conflicts
 CA381481186 rs_1554986345

3 SubmittersRCV000520415RCV001027673
NM_006946.4(SPTBN2):c.1877T>C (p.Leu626Pro) SNV
Germline		 Chr11:66705399 Conflicting classifications of pathogenicity Spinocerebellar ataxia type 5
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA381479527 rs_1554984881

4 SubmittersRCV000578450RCV000992843RCV001815002
NM_006946.4(SPTBN2):c.3800C>T (p.Ala1267Val) SNV
Germline		 Chr11:66699059 Conflicting classifications of pathogenicity Condition: not provided
Spinocerebellar ataxia type 5
Autosomal recessive spinocerebellar ataxia 14		 Criteria Provided
Conflicting Classifications
 CA6128755 rs_148065361

4 SubmittersRCV000593657RCV000765002
NM_006946.4(SPTBN2):c.1456G>A (p.Ala486Thr) SNV
Germline		 Chr11:66707713 Conflicting classifications of pathogenicity Condition: not provided
not specified
Spinocerebellar ataxia type 5
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA6129367 rs_143155918

6 SubmittersRCV000658606RCV001289186RCV001253295RCV002531107
NM_006946.4(SPTBN2):c.1310G>A (p.Arg437Gln) SNV
Germline		 Chr11:66708181 Pathogenic/Likely pathogenic Spinocerebellar ataxia type 5
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1554986337

5 SubmittersRCV000677650RCV000658607
NM_006946.4(SPTBN2):c.7109G>A (p.Arg2370His) SNV
Germline		 Chr11:66685935 Conflicting classifications of pathogenicity Autosomal recessive spinocerebellar ataxia 14
Inborn genetic diseases
Condition: not provided
Spinocerebellar ataxia type 5
not specified		 Criteria Provided
Conflicting Classifications
 rs_145522851

8 SubmittersRCV000760172RCV002533834RCV001092901RCV001849187RCV004997266
NM_006946.4(SPTBN2):c.6739T>C (p.Tyr2247His) SNV
Germline		 Chr11:66687151 Conflicting classifications of pathogenicity Spinocerebellar ataxia type 5
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 rs_201138924

3 SubmittersRCV000791109RCV002535829RCV004027386
NM_006946.4(SPTBN2):c.1160G>A (p.Arg387His) SNV
Germline		 Chr11:66708933 Conflicting classifications of pathogenicity Condition: not provided
Spinocerebellar ataxia type 5		 Criteria Provided
Conflicting Classifications
 rs_772590586

3 SubmittersRCV000992840RCV002225122
NM_006946.4(SPTBN2):c.1052G>C (p.Arg351Pro) SNV
Germline		 Chr11:66710603 Likely pathogenic Spinocerebellar ataxia type 5 Criteria Provided
Single Submitter
 rs_541484241

1 SubmittersRCV000995650
NM_006946.4(SPTBN2):c.6502-9C>T SNV
Germline		 Chr11:66687656 Conflicting classifications of pathogenicity Spinocerebellar ataxia type 5
Autosomal recessive spinocerebellar ataxia 14
not specified		 Criteria Provided
Conflicting Classifications
 rs_545190212

2 SubmittersRCV001106096RCV001106097RCV004998649
NM_006946.4(SPTBN2):c.6035-12C>T SNV
Germline		 Chr11:66688861 Conflicting classifications of pathogenicity Autosomal recessive spinocerebellar ataxia 14
Spinocerebellar ataxia type 5		 Criteria Provided
Conflicting Classifications
 rs_2276137

1 SubmittersRCV001103124RCV001103125
NM_006946.4(SPTBN2):c.1973G>A (p.Arg658Gln) SNV
Unknown		 Chr11:66705303 Conflicting classifications of pathogenicity Spinocerebellar ataxia type 5 Criteria Provided
Conflicting Classifications
 rs_753491527

2 SubmittersRCV001169870
NM_006946.4(SPTBN2):c.1309C>T (p.Arg437Trp) SNV
Germline		 Chr11:66708182 Pathogenic/Likely pathogenic Spinocerebellar ataxia type 5
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1941669517

2 SubmittersRCV001193661RCV002284470
NM_006946.4(SPTBN2):c.6536G>A (p.Arg2179Gln) SNV
Germline		 Chr11:66687613 Conflicting classifications of pathogenicity Condition: not provided
Spinocerebellar ataxia type 5
not specified		 Criteria Provided
Conflicting Classifications
 rs_759206588

4 SubmittersRCV001859183RCV001196320RCV004998715
NM_006946.4(SPTBN2):c.4986-5T>G SNV
Germline		 Chr11:66692745 Conflicting classifications of pathogenicity Spinocerebellar ataxia type 5
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_1371679359

2 SubmittersRCV001196580RCV003770205
NM_006946.4(SPTBN2):c.5066G>A (p.Arg1689His) SNV
Germline		 Chr11:66692660 Conflicting classifications of pathogenicity Spinocerebellar ataxia type 5
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_764884402

2 SubmittersRCV001647146RCV001863181
NM_006946.4(SPTBN2):c.4358A>T (p.Asp1453Val) SNV
Unknown		 Chr11:66694284 Likely pathogenic Spinocerebellar ataxia type 5 Criteria Provided
Single Submitter
 rs_1940772032

1 SubmittersRCV001330335
NM_006946.4(SPTBN2):c.812C>T (p.Thr271Ile) SNV
Germline		 Chr11:66710990 Likely pathogenic Spinocerebellar ataxia type 5 Criteria Provided
Single Submitter
 rs_1941829953

1 SubmittersRCV001330338
NM_006946.4(SPTBN2):c.7039C>T (p.Arg2347Trp) SNV
Germline		 Chr11:66686005 Conflicting classifications of pathogenicity Condition: not provided
Autosomal recessive spinocerebellar ataxia 14
Spinocerebellar ataxia type 5		 Criteria Provided
Conflicting Classifications
 rs_746195427

4 SubmittersRCV001663533RCV002495989
NM_006946.4(SPTBN2):c.1522A>C (p.Asn508His) SNV
Germline		 Chr11:66707647 Conflicting classifications of pathogenicity Spinocerebellar ataxia type 5
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 rs_767775507

4 SubmittersRCV001849206RCV002032682RCV004998956
NM_006946.4(SPTBN2):c.5974C>T (p.Gln1992Ter) SNV
Germline		 Chr11:66689156 Likely pathogenic Spinocerebellar ataxia type 5 Criteria Provided
Single Submitter
 rs_2135319250

1 SubmittersRCV001807913
NM_006946.4(SPTBN2):c.2216G>A (p.Arg739His) SNV
Germline		 Chr11:66705060 Conflicting classifications of pathogenicity Condition: not provided
Spinocerebellar ataxia type 5
Autosomal recessive spinocerebellar ataxia 14		 Criteria Provided
Conflicting Classifications
 rs_372938259

2 SubmittersRCV001918073RCV002478308
NM_006946.4(SPTBN2):c.193A>C (p.Lys65Gln) SNV
Germline		 Chr11:66715946 Likely pathogenic Spinocerebellar ataxia type 5 Criteria Provided
Single Submitter
 rs_2135526204

1 SubmittersRCV002221400
NM_006946.4(SPTBN2):c.2558C>T (p.Ala853Val) SNV
Germline		 Chr11:66704718 Conflicting classifications of pathogenicity Spinocerebellar ataxia type 5
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_773989387

2 SubmittersRCV002251018RCV003094079
NM_006946.4(SPTBN2):c.6230C>T (p.Ala2077Val) SNV
Germline		 Chr11:66688654 Conflicting classifications of pathogenicity Autosomal recessive spinocerebellar ataxia 14
Spinocerebellar ataxia type 5
Inborn genetic diseases
Condition: not provided		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002465005RCV004067551RCV004801219
NM_006946.4(SPTBN2):c.7040G>A (p.Arg2347Gln) SNV
Germline		 Chr11:66686004 Conflicting classifications of pathogenicity Spinocerebellar ataxia type 5
Condition: not provided		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002466310RCV002571400
NM_006946.4(SPTBN2):c.6953C>T (p.Ser2318Leu) SNV
Germline		 Chr11:66686091 Conflicting classifications of pathogenicity Condition: not provided
Spinocerebellar ataxia type 5		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003856523RCV004759329