Total 78 pathogenic variants reported for Spinocerebellar ataxia 12 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_016373.4(WWOX):c.1114G>C (p.Gly372Arg) SNV
Germline		 Chr16:79211665 Pathogenic Autosomal recessive spinocerebellar ataxia 12
Condition: not provided		 Criteria Provided
Single Submitter
 CA150588 rs_587777127

3 SubmittersRCV000087048RCV001091765
NM_016373.4(WWOX):c.139C>A (p.Pro47Thr) SNV
Germline		 Chr16:78108454 Pathogenic Autosomal recessive spinocerebellar ataxia 12 No Assertion Criteria Provided
 CA150589 rs_587777128

1 SubmittersRCV000087049
NM_016373.4(WWOX):c.160C>T (p.Arg54Ter) SNV
Germline		 Chr16:78108475 Pathogenic Developmental and epileptic encephalopathy, 28
Developmental and epileptic encephalopathy, 1
Autosomal recessive spinocerebellar ataxia 12		 Criteria Provided
Multiple Submitters
No Conflicts
 CA150822 rs_587777248

4 SubmittersRCV000106406RCV000824131
NM_016373.4(WWOX):c.606-1G>A SNV
Germline		 Chr16:78424869 Pathogenic Brain atrophy
Global developmental delay
Abnormal facial shape
Developmental and epileptic encephalopathy, 28
Developmental and epileptic encephalopathy, 1
Autosomal recessive spinocerebellar ataxia 12
Condition: not provided
WWOX-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA249927 rs_730882215

7 SubmittersRCV000162124RCV000408849RCV001220865RCV001558644RCV003398828
NM_016373.4(WWOX):c.885G>A (p.Arg295=) SNV
Germline		 Chr16:78432581 Conflicting classifications of pathogenicity not specified
Condition: not provided
Developmental and epileptic encephalopathy, 1
Autosomal recessive spinocerebellar ataxia 12		 Criteria Provided
Conflicting Classifications
 CA207157 rs_79771882

5 SubmittersRCV000193579RCV000714215RCV001086884
NM_016373.4(WWOX):c.511G>T (p.Glu171Ter) SNV
Germline		 Chr16:78164284 Likely pathogenic Autosomal recessive spinocerebellar ataxia 12 Criteria Provided
Single Submitter
 CA8183236 rs_751181600

1 SubmittersRCV000490293
NM_016373.4(WWOX):c.779C>G (p.Ser260Ter) SNV
Germline		 Chr16:78425043 Pathogenic Autosomal recessive spinocerebellar ataxia 12
Developmental and epileptic encephalopathy, 1		 Criteria Provided
Single Submitter
 CA10583430 rs_878855021

1 SubmittersRCV000234306
NM_016373.4(WWOX):c.790C>T (p.Arg264Ter) SNV
Germline		 Chr16:78425054 Pathogenic Autosomal recessive spinocerebellar ataxia 12
Developmental and epileptic encephalopathy, 1
Condition: not provided
Autosomal recessive spinocerebellar ataxia 12
Malignant tumor of esophagus
Developmental and epileptic encephalopathy, 28
Developmental and epileptic encephalopathy, 28		 Criteria Provided
Multiple Submitters
No Conflicts
 CA8183456 rs_756762196

5 SubmittersRCV000229073RCV000486785RCV000763386RCV002273998
NM_016373.4(WWOX):c.816G>T (p.Leu272Phe) SNV
Germline		 Chr16:78432512 Conflicting classifications of pathogenicity Condition: not provided
Autosomal recessive spinocerebellar ataxia 12
Developmental and epileptic encephalopathy, 1
not specified		 Criteria Provided
Conflicting Classifications
 CA8183503 rs_186745328

9 SubmittersRCV000443525RCV001080349RCV001820753
NM_016373.4(WWOX):c.749C>G (p.Ser250Ter) SNV
Germline		 Chr16:78425013 Pathogenic/Likely pathogenic Condition: not provided
Developmental and epileptic encephalopathy, 1
Autosomal recessive spinocerebellar ataxia 12
Inborn genetic diseases		 Criteria Provided
Multiple Submitters
No Conflicts
 CA8183444 rs_368928190

4 SubmittersRCV000413095RCV001385286RCV002518924
NM_016373.4(WWOX):c.131G>A (p.Trp44Ter) SNV
Germline		 Chr16:78108446 Pathogenic Condition: not provided
Developmental and epileptic encephalopathy, 1
Autosomal recessive spinocerebellar ataxia 12		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16042955 rs_1057517846

2 SubmittersRCV000414691RCV001850983
NM_016373.4(WWOX):c.851A>G (p.Lys284Arg) SNV
Germline		 Chr16:78432547 Conflicting classifications of pathogenicity not specified
Developmental and epileptic encephalopathy, 1
Autosomal recessive spinocerebellar ataxia 12
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA16043024 rs_897453553

2 SubmittersRCV000414593RCV000532362RCV001591051
NM_016373.4(WWOX):c.332C>G (p.Thr111Ser) SNV
Germline		 Chr16:78115077 Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 1
Autosomal recessive spinocerebellar ataxia 12
Developmental and epileptic encephalopathy, 28
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA8183162 rs_114755364

3 SubmittersRCV000544935RCV001291668RCV001697771
NM_016373.4(WWOX):c.410-3T>C SNV
Germline		 Chr16:78164180 Conflicting classifications of pathogenicity not specified
Autosomal recessive spinocerebellar ataxia 12
Developmental and epileptic encephalopathy, 1		 Criteria Provided
Conflicting Classifications
 CA8183207 rs_201178351

2 SubmittersRCV000433960RCV000796343
NM_016373.4(WWOX):c.1146C>T (p.Cys382=) SNV
Germline		 Chr16:79211697 Conflicting classifications of pathogenicity Condition: not provided
Autosomal recessive spinocerebellar ataxia 12
Developmental and epileptic encephalopathy, 1
not specified		 Criteria Provided
Conflicting Classifications
 CA8183761 rs_780939546

3 SubmittersRCV000427908RCV000695560RCV001821181
NM_016373.4(WWOX):c.409+1G>C SNV
Germline		 Chr16:78115155 Pathogenic/Likely pathogenic Autosomal recessive spinocerebellar ataxia 12
Developmental and epileptic encephalopathy, 1
Developmental and epileptic encephalopathy, 28		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16614998 rs_1060502727

2 SubmittersRCV000458905RCV001796062
NM_016373.4(WWOX):c.562C>A (p.Arg188Ser) SNV
Germline		 Chr16:78386905 Conflicting classifications of pathogenicity Autosomal recessive spinocerebellar ataxia 12
Developmental and epileptic encephalopathy, 1
Autosomal recessive spinocerebellar ataxia 12
Developmental and epileptic encephalopathy, 28
Malignant tumor of esophagus
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA8183335 rs_199511589

5 SubmittersRCV000458450RCV000764078RCV001537501
NM_016373.4(WWOX):c.421G>A (p.Ala141Thr) SNV
Germline		 Chr16:78164194 Conflicting classifications of pathogenicity Condition: not provided
Autosomal recessive spinocerebellar ataxia 12
Developmental and epileptic encephalopathy, 1		 Criteria Provided
Conflicting Classifications
 CA8183213 rs_369907002

5 SubmittersRCV000493095RCV001080385
NM_016373.4(WWOX):c.468G>T (p.Arg156Ser) SNV
Germline		 Chr16:78164241 Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 1
Autosomal recessive spinocerebellar ataxia 12
Condition: not provided
Autosomal recessive spinocerebellar ataxia 12
Developmental and epileptic encephalopathy, 28
WWOX-related disorder		 Criteria Provided
Conflicting Classifications
 CA8183226 rs_140817689

5 SubmittersRCV001081708RCV000480602RCV002244944RCV002244945RCV003960093
NM_016373.4(WWOX):c.1178C>T (p.Thr393Met) SNV
Germline		 Chr16:79211729 Conflicting classifications of pathogenicity Condition: not provided
Autosomal recessive spinocerebellar ataxia 12
Developmental and epileptic encephalopathy, 1
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA8183777 rs_139253468

7 SubmittersRCV000466359RCV001080806RCV002523319
NM_016373.4(WWOX):c.255C>G (p.Tyr85Ter) SNV
Germline		 Chr16:78115000 Pathogenic Condition: not provided
Developmental and epileptic encephalopathy, 1
Autosomal recessive spinocerebellar ataxia 12		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16620273 rs_990150249

3 SubmittersRCV000487411RCV001221428
NM_016373.4(WWOX):c.410G>A (p.Gly137Glu) SNV
Germline		 Chr16:78164183 Conflicting classifications of pathogenicity Condition: not provided
Developmental and epileptic encephalopathy, 1
Autosomal recessive spinocerebellar ataxia 12
Developmental and epileptic encephalopathy, 28		 Criteria Provided
Conflicting Classifications
 CA8183208 rs_761879076

4 SubmittersRCV000512753RCV000525795RCV002509417
NM_016373.4(WWOX):c.214C>T (p.Gln72Ter) SNV
Germline		 Chr16:78109819 Pathogenic/Likely pathogenic Condition: not provided
Developmental and epileptic encephalopathy, 1
Autosomal recessive spinocerebellar ataxia 12
Developmental and epileptic encephalopathy, 28		 Criteria Provided
Multiple Submitters
No Conflicts
 CA8183087 rs_201008667

4 SubmittersRCV000521914RCV000798699RCV002527597
NM_016373.4(WWOX):c.605+5G>A SNV
Germline		 Chr16:78386953 Conflicting classifications of pathogenicity Condition: not provided
Developmental and epileptic encephalopathy, 28
Autosomal recessive spinocerebellar ataxia 12
Developmental and epileptic encephalopathy, 1
Autosomal recessive spinocerebellar ataxia 12
Developmental and epileptic encephalopathy, 28		 Criteria Provided
Conflicting Classifications
 CA623626138 rs_1039151413

4 SubmittersRCV000522383RCV000850619RCV000703936RCV003152608
NM_016373.4(WWOX):c.1114G>T (p.Gly372Ter) SNV
Germline		 Chr16:79211665 Conflicting classifications of pathogenicity Condition: not provided
Developmental and epileptic encephalopathy, 1
Autosomal recessive spinocerebellar ataxia 12
See cases		 Criteria Provided
Conflicting Classifications
 CA396537070 rs_587777127

4 SubmittersRCV000519379RCV000703935RCV002252153
NM_016373.4(WWOX):c.406A>G (p.Ile136Val) SNV
Germline		 Chr16:78115151 Conflicting classifications of pathogenicity Autosomal recessive spinocerebellar ataxia 12
Developmental and epileptic encephalopathy, 1
Developmental and epileptic encephalopathy, 28
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA8183177 rs_193027041

4 SubmittersRCV000537303RCV001330929RCV001507346
NM_016373.4(WWOX):c.535G>T (p.Ala179Ser) SNV
Germline		 Chr16:78386878 Conflicting classifications of pathogenicity Autosomal recessive spinocerebellar ataxia 12
Developmental and epileptic encephalopathy, 1
Condition: not provided
Autosomal recessive spinocerebellar ataxia 12
Malignant tumor of esophagus
Developmental and epileptic encephalopathy, 28		 Criteria Provided
Conflicting Classifications
 CA8183322 rs_11545029

4 SubmittersRCV000524996RCV001726237RCV002483483
NM_016373.4(WWOX):c.1228G>T (p.Gly410Cys) SNV
Germline		 Chr16:79211779 Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 1
Autosomal recessive spinocerebellar ataxia 12
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA8183802 rs_76204496

4 SubmittersRCV000650211RCV001722560RCV001815005
NM_016373.4(WWOX):c.228T>C (p.Val76=) SNV
Germline		 Chr16:78109833 Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 1
Autosomal recessive spinocerebellar ataxia 12
Developmental and epileptic encephalopathy, 28		 Criteria Provided
Conflicting Classifications
 CA8183093 rs_370579498

2 SubmittersRCV000650217RCV001335817
NM_016373.4(WWOX):c.35C>G (p.Thr12Arg) SNV
Germline		 Chr16:78099813 Conflicting classifications of pathogenicity Autosomal recessive spinocerebellar ataxia 12
Developmental and epileptic encephalopathy, 1
Autosomal recessive spinocerebellar ataxia 12		 Criteria Provided
Conflicting Classifications
 rs_1567567249

2 SubmittersRCV000690341RCV002286420
NM_016373.4(WWOX):c.173-6T>G SNV
Germline		 Chr16:78109772 Conflicting classifications of pathogenicity Autosomal recessive spinocerebellar ataxia 12
Developmental and epileptic encephalopathy, 1
Developmental and epileptic encephalopathy, 28
Developmental and epileptic encephalopathy, 1
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 rs_200812468

5 SubmittersRCV000692826RCV001335816RCV001252636RCV003148830RCV002532222
NM_016373.4(WWOX):c.745C>T (p.Arg249Cys) SNV
Germline		 Chr16:78425009 Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 1
Autosomal recessive spinocerebellar ataxia 12
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_749277249

3 SubmittersRCV000698733RCV001507347
NM_016373.4(WWOX):c.953C>T (p.Ser318Leu) SNV
Germline		 Chr16:78432649 Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 1
Autosomal recessive spinocerebellar ataxia 12
Developmental and epileptic encephalopathy, 28
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_770023814

3 SubmittersRCV000696482RCV001809762RCV001567822
NM_016373.4(WWOX):c.583G>T (p.Glu195Ter) SNV
Germline		 Chr16:78386926 Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 1
Autosomal recessive spinocerebellar ataxia 12
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1567542020

2 SubmittersRCV000688699RCV000760719
NM_016373.4(WWOX):c.107+1G>A SNV
Germline		 Chr16:78099886 Pathogenic/Likely pathogenic Autosomal recessive spinocerebellar ataxia 12
Developmental and epileptic encephalopathy, 28
Developmental and epileptic encephalopathy, 1
Developmental and epileptic encephalopathy, 1
Autosomal recessive spinocerebellar ataxia 12
See cases
Condition: not provided
West syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1300924648

6 SubmittersRCV000850618RCV000989638RCV001858475RCV002252255RCV003332268RCV003489939
NM_016373.4(WWOX):c.108-2A>T SNV
Germline		 Chr16:78108421 Likely pathogenic Autosomal recessive spinocerebellar ataxia 12
Developmental and epileptic encephalopathy, 28
Malignant tumor of esophagus		 Criteria Provided
Single Submitter
 rs_1597207802

1 SubmittersRCV000991459
NM_016373.4(WWOX):c.689A>C (p.Gln230Pro) SNV
Germline		 Chr16:78424953 Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 28
Abnormality of the nervous system
Malignant tumor of esophagus
Autosomal recessive spinocerebellar ataxia 12
Developmental and epileptic encephalopathy, 1
Condition: not provided
WWOX-related disorder
Early Infantile Epileptic Encephalopathy, Autosomal Recessive
Autosomal recessive spinocerebellar ataxia 12
Autosomal recessive spinocerebellar ataxia 12
Malignant tumor of esophagus
Developmental and epileptic encephalopathy, 28		 Criteria Provided
Multiple Submitters
No Conflicts

11 SubmittersRCV001004706RCV001814252RCV002249620RCV001389252RCV002286798RCV003411947RCV002307653RCV004559832RCV002505539
NM_016373.4(WWOX):c.538A>G (p.Met180Val) SNV
Germline		 Chr16:78386881 Conflicting classifications of pathogenicity Condition: not provided
Autosomal recessive spinocerebellar ataxia 12
Developmental and epileptic encephalopathy, 1		 Criteria Provided
Conflicting Classifications
 rs_569297468

2 SubmittersRCV001091761RCV001212923
NM_016373.4(WWOX):c.311G>A (p.Arg104Gln) SNV
Germline		 Chr16:78115056 Conflicting classifications of pathogenicity Autosomal recessive spinocerebellar ataxia 12
Developmental and epileptic encephalopathy, 1
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 rs_199625891

2 SubmittersRCV001247071RCV002568673
NM_016373.4(WWOX):c.1085G>A (p.Cys362Tyr) SNV
Germline		 Chr16:79211636 Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 1
Autosomal recessive spinocerebellar ataxia 12
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 rs_778218106

3 SubmittersRCV001351418RCV001586144RCV004526115
NM_016373.4(WWOX):c.791+1G>T SNV
Germline		 Chr16:78425056 Likely pathogenic Developmental and epileptic encephalopathy, 1
Autosomal recessive spinocerebellar ataxia 12		 Criteria Provided
Single Submitter
 rs_1164465811

1 SubmittersRCV001378810
NM_016373.4(WWOX):c.127C>T (p.Gln43Ter) SNV
Germline		 Chr16:78108442 Pathogenic Developmental and epileptic encephalopathy, 1
Autosomal recessive spinocerebellar ataxia 12		 Criteria Provided
Single Submitter
 rs_1284883505

1 SubmittersRCV001380098
NM_016373.4(WWOX):c.321C>G (p.Tyr107Ter) SNV
Germline		 Chr16:78115066 Pathogenic Developmental and epileptic encephalopathy, 1
Autosomal recessive spinocerebellar ataxia 12		 Criteria Provided
Single Submitter
 rs_373306276

1 SubmittersRCV001384684
NM_016373.4(WWOX):c.49G>A (p.Glu17Lys) SNV
Germline		 Chr16:78099827 Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 28
Developmental and epileptic encephalopathy, 1
Autosomal recessive spinocerebellar ataxia 12		 Criteria Provided
Conflicting Classifications
 rs_780345312

2 SubmittersRCV001823026RCV001869806
NM_016373.4(WWOX):c.1165C>T (p.Gln389Ter) SNV
Germline		 Chr16:79211716 Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 1
Autosomal recessive spinocerebellar ataxia 12
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 rs_1484856529

3 SubmittersRCV001867230RCV002307770RCV003235606
NM_016373.4(WWOX):c.533A>G (p.Glu178Gly) SNV
Germline		 Chr16:78386876 Conflicting classifications of pathogenicity Autosomal recessive spinocerebellar ataxia 12
Developmental and epileptic encephalopathy, 1
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 rs_764588235

2 SubmittersRCV001898241RCV004041482
NM_016373.4(WWOX):c.517-1G>T SNV
Germline		 Chr16:78386859 Pathogenic Autosomal recessive spinocerebellar ataxia 12
Developmental and epileptic encephalopathy, 1		 Criteria Provided
Single Submitter
 rs_867163041

1 SubmittersRCV001958834
NM_016373.4(WWOX):c.836G>A (p.Arg279His) SNV
Germline		 Chr16:78432532 Conflicting classifications of pathogenicity Autosomal recessive spinocerebellar ataxia 12
Developmental and epileptic encephalopathy, 1
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 rs_748534396

2 SubmittersRCV001954097RCV004044447
NM_016373.4(WWOX):c.1057C>T (p.Gln353Ter) SNV
Germline		 Chr16:79211608 Pathogenic Developmental and epileptic encephalopathy, 1
Autosomal recessive spinocerebellar ataxia 12		 Criteria Provided
Single Submitter
 rs_770155582

1 SubmittersRCV001895441
NM_016373.4(WWOX):c.172+1G>C SNV
Germline		 Chr16:78108488 Pathogenic Developmental and epileptic encephalopathy, 28
Autosomal recessive spinocerebellar ataxia 12		 Criteria Provided
Single Submitter
 rs_1377640182

1 SubmittersRCV002222278
NM_016373.4(WWOX):c.173-1G>T SNV
Germline		 Chr16:78109777 Pathogenic Autosomal recessive spinocerebellar ataxia 12
Developmental and epileptic encephalopathy, 1		 Criteria Provided
Single Submitter

1 SubmittersRCV003064358
NM_016373.4(WWOX):c.2T>C (p.Met1Thr) SNV
Germline		 Chr16:78099780 Pathogenic Developmental and epileptic encephalopathy, 1
Autosomal recessive spinocerebellar ataxia 12		 Criteria Provided
Single Submitter

1 SubmittersRCV002570027
NM_016373.4(WWOX):c.1A>C (p.Met1Leu) SNV
Germline		 Chr16:78099779 Pathogenic Developmental and epileptic encephalopathy, 1
Autosomal recessive spinocerebellar ataxia 12		 Criteria Provided
Single Submitter

1 SubmittersRCV002780125
NM_016373.4(WWOX):c.173-1G>C SNV
Germline		 Chr16:78109777 Pathogenic Developmental and epileptic encephalopathy, 1
Autosomal recessive spinocerebellar ataxia 12		 Criteria Provided
Single Submitter

1 SubmittersRCV003042824
NM_016373.4(WWOX):c.605+2T>C SNV
Germline		 Chr16:78386950 Likely pathogenic Autosomal recessive spinocerebellar ataxia 12
Developmental and epileptic encephalopathy, 1		 Criteria Provided
Single Submitter

1 SubmittersRCV003792092
NM_016373.4(WWOX):c.863G>A (p.Trp288Ter) SNV
Germline		 Chr16:78432559 Pathogenic Autosomal recessive spinocerebellar ataxia 12
Developmental and epileptic encephalopathy, 1		 Criteria Provided
Single Submitter

1 SubmittersRCV003805646