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	Condition: not provided Autosomal recessive spinocerebellar ataxia 12	Criteria Provided Single Submitter	CA150588	rs_587777127	3 SubmittersRCV001091765 RCV000087048
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 SubmittersRCV000106406 RCV000824131
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 Autosomal recessive spinocerebellar ataxia 12 Developmental and epileptic encephalopathy, 1 Condition: not provided WWOX-related disorder Esophageal squamous cell carcinoma	Criteria Provided Multiple Submitters No Conflicts	CA249927	rs_730882215	7 SubmittersRCV000162124 RCV000408849 RCV001220865 RCV001558644 RCV003398828 RCV004798788
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 WWOX-related disorder	Criteria Provided Conflicting Classifications	CA207157	rs_79771882	6 SubmittersRCV000193579 RCV000714215 RCV001086884 RCV004730901
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	Developmental and epileptic encephalopathy, 1 Autosomal recessive spinocerebellar ataxia 12	Criteria Provided Single Submitter	CA10583430	rs_878855021	1 SubmittersRCV000234306
NM_016373.4(WWOX):c.790C>T (p.Arg264Ter)	SNV Germline	Chr16:78425054	Pathogenic	Developmental and epileptic encephalopathy, 1 Autosomal recessive spinocerebellar ataxia 12 Condition: not provided Autosomal recessive spinocerebellar ataxia 12 Malignant tumor of esophagus Developmental and epileptic encephalopathy, 28 Developmental and epileptic encephalopathy, 28 WWOX-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA8183456	rs_756762196	6 SubmittersRCV000229073 RCV000486785 RCV000763386 RCV002273998 RCV004752809
NM_016373.4(WWOX):c.816G>T (p.Leu272Phe)	SNV Germline	Chr16:78432512	Conflicting classifications of pathogenicity	Condition: not provided Developmental and epileptic encephalopathy, 1 Autosomal recessive spinocerebellar ataxia 12 not specified	Criteria Provided Conflicting Classifications	CA8183503	rs_186745328	9 SubmittersRCV000443525 RCV001080349 RCV001820753
NM_016373.4(WWOX):c.749C>G (p.Ser250Ter)	SNV Germline	Chr16:78425013	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 SubmittersRCV000413095 RCV001385286 RCV002518924
NM_016373.4(WWOX):c.131G>A (p.Trp44Ter)	SNV Germline	Chr16:78108446	Pathogenic	Condition: not provided Autosomal recessive spinocerebellar ataxia 12 Developmental and epileptic encephalopathy, 1	Criteria Provided Multiple Submitters No Conflicts	CA16042955	rs_1057517846	2 SubmittersRCV000414691 RCV001850983
NM_016373.4(WWOX):c.851A>G (p.Lys284Arg)	SNV Germline	Chr16:78432547	Conflicting classifications of pathogenicity	not specified Autosomal recessive spinocerebellar ataxia 12 Developmental and epileptic encephalopathy, 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA16043024	rs_897453553	2 SubmittersRCV000414593 RCV000532362 RCV001591051
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 not specified	Criteria Provided Conflicting Classifications	CA8183162	rs_114755364	4 SubmittersRCV000544935 RCV001291668 RCV001697771 RCV004999395
NM_016373.4(WWOX):c.410-3T>C	SNV Germline	Chr16:78164180	Conflicting classifications of pathogenicity	not specified Developmental and epileptic encephalopathy, 1 Autosomal recessive spinocerebellar ataxia 12	Criteria Provided Conflicting Classifications	CA8183207	rs_201178351	2 SubmittersRCV000433960 RCV000796343
NM_016373.4(WWOX):c.1146C>T (p.Cys382=)	SNV Germline	Chr16:79211697	Conflicting classifications of pathogenicity	Condition: not provided Developmental and epileptic encephalopathy, 1 Autosomal recessive spinocerebellar ataxia 12 not specified	Criteria Provided Conflicting Classifications	CA8183761	rs_780939546	3 SubmittersRCV000427908 RCV000695560 RCV001821181
NM_016373.4(WWOX):c.1203C>T (p.Ser401=)	SNV Germline	Chr16:79211754	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy, 1 Autosomal recessive spinocerebellar ataxia 12 not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA8183790	rs_201428060	4 SubmittersRCV000466131 RCV001821177 RCV001720175
NM_016373.4(WWOX):c.409+1G>C	SNV Germline	Chr16:78115155	Pathogenic/Likely pathogenic	Developmental and epileptic encephalopathy, 1 Autosomal recessive spinocerebellar ataxia 12 Developmental and epileptic encephalopathy, 28	Criteria Provided Multiple Submitters No Conflicts	CA16614998	rs_1060502727	2 SubmittersRCV000458905 RCV001796062
NM_016373.4(WWOX):c.562C>A (p.Arg188Ser)	SNV Germline	Chr16:78386905	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy, 1 Autosomal recessive spinocerebellar ataxia 12 Developmental and epileptic encephalopathy, 28 Malignant tumor of esophagus Autosomal recessive spinocerebellar ataxia 12 Condition: not provided	Criteria Provided Conflicting Classifications	CA8183335	rs_199511589	5 SubmittersRCV000458450 RCV000764078 RCV001537501
NM_016373.4(WWOX):c.421G>A (p.Ala141Thr)	SNV Germline	Chr16:78164194	Conflicting classifications of pathogenicity	Condition: not provided Developmental and epileptic encephalopathy, 1 Autosomal recessive spinocerebellar ataxia 12	Criteria Provided Conflicting Classifications	CA8183213	rs_369907002	5 SubmittersRCV000493095 RCV001080385
NM_016373.4(WWOX):c.468G>T (p.Arg156Ser)	SNV Germline	Chr16:78164241	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive spinocerebellar ataxia 12 Developmental and epileptic encephalopathy, 1 Autosomal recessive spinocerebellar ataxia 12 Developmental and epileptic encephalopathy, 28 WWOX-related disorder not specified	Criteria Provided Conflicting Classifications	CA8183226	rs_140817689	6 SubmittersRCV000480602 RCV001081708 RCV002244944 RCV002244945 RCV003960093 RCV004999506
NM_016373.4(WWOX):c.1178C>T (p.Thr393Met)	SNV Germline	Chr16:79211729	Conflicting classifications of pathogenicity	Condition: not provided Developmental and epileptic encephalopathy, 1 Autosomal recessive spinocerebellar ataxia 12 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8183777	rs_139253468	7 SubmittersRCV000466359 RCV001080806 RCV002523319
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 SubmittersRCV000487411 RCV001221428
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 SubmittersRCV000512753 RCV000525795 RCV002509417
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 SubmittersRCV000521914 RCV000798699 RCV002527597
NM_016373.4(WWOX):c.605+5G>A	SNV Germline	Chr16:78386953	Conflicting classifications of pathogenicity	Condition: not provided Developmental and epileptic encephalopathy, 1 Autosomal recessive spinocerebellar ataxia 12 Autosomal recessive spinocerebellar ataxia 12 Developmental and epileptic encephalopathy, 28 Developmental and epileptic encephalopathy, 28	Criteria Provided Conflicting Classifications	CA623626138	rs_1039151413	4 SubmittersRCV000522383 RCV000703936 RCV000850619 RCV003152608
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 SubmittersRCV000519379 RCV000703935 RCV002252153
NM_016373.4(WWOX):c.1240G>A (p.Gly414Ser)	SNV Germline	Chr16:79211791	Conflicting classifications of pathogenicity	Condition: not provided Developmental and epileptic encephalopathy, 1 Autosomal recessive spinocerebellar ataxia 12 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8183811	rs_201606637	3 SubmittersRCV000519792 RCV000545336 RCV004965532
NM_016373.4(WWOX):c.406A>G (p.Ile136Val)	SNV Germline	Chr16:78115151	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	CA8183177	rs_193027041	4 SubmittersRCV000537303 RCV001330929 RCV001507346
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 Malignant tumor of esophagus Autosomal recessive spinocerebellar ataxia 12 Developmental and epileptic encephalopathy, 28	Criteria Provided Conflicting Classifications	CA8183322	rs_11545029	4 SubmittersRCV000524996 RCV001726237 RCV002483483
NM_016373.4(WWOX):c.1228G>T (p.Gly410Cys)	SNV Germline	Chr16:79211779	Conflicting classifications of pathogenicity	Autosomal recessive spinocerebellar ataxia 12 Developmental and epileptic encephalopathy, 1 not specified Condition: not provided WWOX-related disorder	Criteria Provided Conflicting Classifications	CA8183802	rs_76204496	5 SubmittersRCV000650211 RCV001815005 RCV001722560 RCV004752967
NM_016373.4(WWOX):c.228T>C (p.Val76=)	SNV Germline	Chr16:78109833	Conflicting classifications of pathogenicity	Autosomal recessive spinocerebellar ataxia 12 Developmental and epileptic encephalopathy, 1 Developmental and epileptic encephalopathy, 28	Criteria Provided Conflicting Classifications	CA8183093	rs_370579498	2 SubmittersRCV000650217 RCV001335817
NM_016373.4(WWOX):c.35C>G (p.Thr12Arg)	SNV Germline	Chr16:78099813	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy, 1 Autosomal recessive spinocerebellar ataxia 12 Autosomal recessive spinocerebellar ataxia 12	Criteria Provided Conflicting Classifications		rs_1567567249	2 SubmittersRCV000690341 RCV002286420
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, 1 Developmental and epileptic encephalopathy, 28 Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications		rs_200812468	5 SubmittersRCV000692826 RCV001252636 RCV001335816 RCV002532222 RCV003148830
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 SubmittersRCV000698733 RCV001507347
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 Condition: not provided Developmental and epileptic encephalopathy, 28	Criteria Provided Conflicting Classifications		rs_770023814	3 SubmittersRCV000696482 RCV001567822 RCV001809762
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 SubmittersRCV000688699 RCV000760719
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 Autosomal recessive spinocerebellar ataxia 12 Developmental and epileptic encephalopathy, 1 See cases Condition: not provided West syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1300924648	6 SubmittersRCV000850618 RCV000989638 RCV001858475 RCV002252255 RCV003332268 RCV003489939
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 Malignant tumor of esophagus Developmental and epileptic encephalopathy, 1 Autosomal recessive spinocerebellar ataxia 12 Early Infantile Epileptic Encephalopathy, Autosomal Recessive Malignant tumor of esophagus Autosomal recessive spinocerebellar ataxia 12 Developmental and epileptic encephalopathy, 28 Abnormality of the nervous system Condition: not provided WWOX-related disorder Autosomal recessive spinocerebellar ataxia 12	Criteria Provided Multiple Submitters No Conflicts			11 SubmittersRCV001004706 RCV002249620 RCV001389252 RCV002307653 RCV002505539 RCV001814252 RCV002286798 RCV003411947 RCV004559832
NM_016373.4(WWOX):c.538A>G (p.Met180Val)	SNV Germline	Chr16:78386881	Conflicting classifications of pathogenicity	Condition: not provided Developmental and epileptic encephalopathy, 1 Autosomal recessive spinocerebellar ataxia 12	Criteria Provided Conflicting Classifications		rs_569297468	2 SubmittersRCV001091761 RCV001212923
NM_016373.4(WWOX):c.697C>A (p.His233Asn)	SNV Germline	Chr16:78424961	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive spinocerebellar ataxia 12 Developmental and epileptic encephalopathy, 1	Criteria Provided Conflicting Classifications		rs_757863128	2 SubmittersRCV001751418 RCV001219343
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 SubmittersRCV001247071 RCV002568673
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 SubmittersRCV001351418 RCV001586144 RCV004526115
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 Autosomal recessive spinocerebellar ataxia 12 Developmental and epileptic encephalopathy, 1	Criteria Provided Conflicting Classifications		rs_780345312	2 SubmittersRCV001823026 RCV001869806
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 SubmittersRCV001867230 RCV002307770 RCV003235606
NM_016373.4(WWOX):c.533A>G (p.Glu178Gly)	SNV Germline	Chr16:78386876	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy, 1 Autosomal recessive spinocerebellar ataxia 12 Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_764588235	2 SubmittersRCV001898241 RCV004041482
NM_016373.4(WWOX):c.517-1G>T	SNV Germline	Chr16:78386859	Pathogenic	Developmental and epileptic encephalopathy, 1 Autosomal recessive spinocerebellar ataxia 12	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	Developmental and epileptic encephalopathy, 1 Autosomal recessive spinocerebellar ataxia 12 Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_748534396	2 SubmittersRCV001954097 RCV004044447
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.766A>G (p.Ile256Val)	SNV Germline	Chr16:78425030	Conflicting classifications of pathogenicity	Developmental and epileptic encephalopathy, 1 Autosomal recessive spinocerebellar ataxia 12 Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_1023419687	2 SubmittersRCV001924493 RCV004970393
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	Developmental and epileptic encephalopathy, 1 Autosomal recessive spinocerebellar ataxia 12	Criteria Provided Single Submitter			1 SubmittersRCV003064358
NM_016373.4(WWOX):c.2T>C (p.Met1Thr)	SNV Germline	Chr16:78099780	Pathogenic	Autosomal recessive spinocerebellar ataxia 12 Developmental and epileptic encephalopathy, 1	Criteria Provided Single Submitter			1 SubmittersRCV002570027
NM_016373.4(WWOX):c.1A>C (p.Met1Leu)	SNV Germline	Chr16:78099779	Pathogenic	Autosomal recessive spinocerebellar ataxia 12 Developmental and epileptic encephalopathy, 1	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	Developmental and epileptic encephalopathy, 1 Autosomal recessive spinocerebellar ataxia 12	Criteria Provided Single Submitter			1 SubmittersRCV003792092
NM_016373.4(WWOX):c.863G>A (p.Trp288Ter)	SNV Germline	Chr16:78432559	Pathogenic	Developmental and epileptic encephalopathy, 1 Autosomal recessive spinocerebellar ataxia 12	Criteria Provided Single Submitter			1 SubmittersRCV003805646

NM_016373.4(WWOX):c.1114G>C (p.Gly372Arg)

SNV
Germline

Chr16:79211665

Pathogenic

Condition: not provided
Autosomal recessive spinocerebellar ataxia 12

Criteria Provided
Single Submitter

CA150588

rs_587777127

3 SubmittersRCV001091765 RCV000087048

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 SubmittersRCV000106406 RCV000824131

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
Autosomal recessive spinocerebellar ataxia 12
Developmental and epileptic encephalopathy, 1
Condition: not provided
WWOX-related disorder
Esophageal squamous cell carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA249927

rs_730882215

7 SubmittersRCV000162124 RCV000408849 RCV001220865 RCV001558644 RCV003398828 RCV004798788

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
WWOX-related disorder

Criteria Provided
Conflicting Classifications

CA207157

rs_79771882

6 SubmittersRCV000193579 RCV000714215 RCV001086884 RCV004730901

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

Developmental and epileptic encephalopathy, 1
Autosomal recessive spinocerebellar ataxia 12

Criteria Provided
Single Submitter

CA10583430

rs_878855021

1 SubmittersRCV000234306

NM_016373.4(WWOX):c.790C>T (p.Arg264Ter)

SNV
Germline

Chr16:78425054

Pathogenic

Developmental and epileptic encephalopathy, 1
Autosomal recessive spinocerebellar ataxia 12
Condition: not provided
Autosomal recessive spinocerebellar ataxia 12
Malignant tumor of esophagus
Developmental and epileptic encephalopathy, 28
Developmental and epileptic encephalopathy, 28
WWOX-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA8183456

rs_756762196

6 SubmittersRCV000229073 RCV000486785 RCV000763386 RCV002273998 RCV004752809

NM_016373.4(WWOX):c.816G>T (p.Leu272Phe)

SNV
Germline

Chr16:78432512

Conflicting classifications of pathogenicity

Condition: not provided
Developmental and epileptic encephalopathy, 1
Autosomal recessive spinocerebellar ataxia 12
not specified

Criteria Provided
Conflicting Classifications

CA8183503

rs_186745328

9 SubmittersRCV000443525 RCV001080349 RCV001820753

NM_016373.4(WWOX):c.749C>G (p.Ser250Ter)

SNV
Germline

Chr16:78425013

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 SubmittersRCV000413095 RCV001385286 RCV002518924

NM_016373.4(WWOX):c.131G>A (p.Trp44Ter)

SNV
Germline

Chr16:78108446

Pathogenic

Condition: not provided
Autosomal recessive spinocerebellar ataxia 12
Developmental and epileptic encephalopathy, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16042955

rs_1057517846

2 SubmittersRCV000414691 RCV001850983

NM_016373.4(WWOX):c.851A>G (p.Lys284Arg)

SNV
Germline

Chr16:78432547

Conflicting classifications of pathogenicity

not specified
Autosomal recessive spinocerebellar ataxia 12
Developmental and epileptic encephalopathy, 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16043024

rs_897453553

2 SubmittersRCV000414593 RCV000532362 RCV001591051

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
not specified

Criteria Provided
Conflicting Classifications

CA8183162

rs_114755364

4 SubmittersRCV000544935 RCV001291668 RCV001697771 RCV004999395

NM_016373.4(WWOX):c.410-3T>C

SNV
Germline

Chr16:78164180

Conflicting classifications of pathogenicity

not specified
Developmental and epileptic encephalopathy, 1
Autosomal recessive spinocerebellar ataxia 12

Criteria Provided
Conflicting Classifications

CA8183207

rs_201178351

2 SubmittersRCV000433960 RCV000796343

NM_016373.4(WWOX):c.1146C>T (p.Cys382=)

SNV
Germline

Chr16:79211697

Conflicting classifications of pathogenicity

Condition: not provided
Developmental and epileptic encephalopathy, 1
Autosomal recessive spinocerebellar ataxia 12
not specified

Criteria Provided
Conflicting Classifications

CA8183761

rs_780939546

3 SubmittersRCV000427908 RCV000695560 RCV001821181

NM_016373.4(WWOX):c.1203C>T (p.Ser401=)

SNV
Germline

Chr16:79211754

Conflicting classifications of pathogenicity

Developmental and epileptic encephalopathy, 1
Autosomal recessive spinocerebellar ataxia 12
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8183790

rs_201428060

4 SubmittersRCV000466131 RCV001821177 RCV001720175

NM_016373.4(WWOX):c.409+1G>C

SNV
Germline

Chr16:78115155

Pathogenic/Likely pathogenic

Developmental and epileptic encephalopathy, 1
Autosomal recessive spinocerebellar ataxia 12
Developmental and epileptic encephalopathy, 28

Criteria Provided
Multiple Submitters
No Conflicts

CA16614998

rs_1060502727

2 SubmittersRCV000458905 RCV001796062

NM_016373.4(WWOX):c.562C>A (p.Arg188Ser)

SNV
Germline

Chr16:78386905

Conflicting classifications of pathogenicity

Developmental and epileptic encephalopathy, 1
Autosomal recessive spinocerebellar ataxia 12
Developmental and epileptic encephalopathy, 28
Malignant tumor of esophagus
Autosomal recessive spinocerebellar ataxia 12
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8183335

rs_199511589

5 SubmittersRCV000458450 RCV000764078 RCV001537501

NM_016373.4(WWOX):c.421G>A (p.Ala141Thr)

SNV
Germline

Chr16:78164194

Conflicting classifications of pathogenicity

Condition: not provided
Developmental and epileptic encephalopathy, 1
Autosomal recessive spinocerebellar ataxia 12

Criteria Provided
Conflicting Classifications

CA8183213

rs_369907002

5 SubmittersRCV000493095 RCV001080385

NM_016373.4(WWOX):c.468G>T (p.Arg156Ser)

SNV
Germline

Chr16:78164241

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive spinocerebellar ataxia 12
Developmental and epileptic encephalopathy, 1
Autosomal recessive spinocerebellar ataxia 12
Developmental and epileptic encephalopathy, 28
WWOX-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA8183226

rs_140817689

6 SubmittersRCV000480602 RCV001081708 RCV002244944 RCV002244945 RCV003960093 RCV004999506

NM_016373.4(WWOX):c.1178C>T (p.Thr393Met)

SNV
Germline

Chr16:79211729

Conflicting classifications of pathogenicity

Condition: not provided
Developmental and epileptic encephalopathy, 1
Autosomal recessive spinocerebellar ataxia 12
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8183777

rs_139253468

7 SubmittersRCV000466359 RCV001080806 RCV002523319

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 SubmittersRCV000487411 RCV001221428

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 SubmittersRCV000512753 RCV000525795 RCV002509417

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 SubmittersRCV000521914 RCV000798699 RCV002527597

NM_016373.4(WWOX):c.605+5G>A

SNV
Germline

Chr16:78386953

Conflicting classifications of pathogenicity

Condition: not provided
Developmental and epileptic encephalopathy, 1
Autosomal recessive spinocerebellar ataxia 12
Autosomal recessive spinocerebellar ataxia 12
Developmental and epileptic encephalopathy, 28
Developmental and epileptic encephalopathy, 28

Criteria Provided
Conflicting Classifications

CA623626138

rs_1039151413

4 SubmittersRCV000522383 RCV000703936 RCV000850619 RCV003152608

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 SubmittersRCV000519379 RCV000703935 RCV002252153

NM_016373.4(WWOX):c.1240G>A (p.Gly414Ser)

SNV
Germline

Chr16:79211791

Conflicting classifications of pathogenicity

Condition: not provided
Developmental and epileptic encephalopathy, 1
Autosomal recessive spinocerebellar ataxia 12
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8183811

rs_201606637

3 SubmittersRCV000519792 RCV000545336 RCV004965532

NM_016373.4(WWOX):c.406A>G (p.Ile136Val)

SNV
Germline

Chr16:78115151

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

CA8183177

rs_193027041

4 SubmittersRCV000537303 RCV001330929 RCV001507346

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
Malignant tumor of esophagus
Autosomal recessive spinocerebellar ataxia 12
Developmental and epileptic encephalopathy, 28

Criteria Provided
Conflicting Classifications

CA8183322

rs_11545029

4 SubmittersRCV000524996 RCV001726237 RCV002483483

NM_016373.4(WWOX):c.1228G>T (p.Gly410Cys)

SNV
Germline

Chr16:79211779

Conflicting classifications of pathogenicity

Autosomal recessive spinocerebellar ataxia 12
Developmental and epileptic encephalopathy, 1
not specified
Condition: not provided
WWOX-related disorder

Criteria Provided
Conflicting Classifications

CA8183802

rs_76204496

5 SubmittersRCV000650211 RCV001815005 RCV001722560 RCV004752967

NM_016373.4(WWOX):c.228T>C (p.Val76=)

SNV
Germline

Chr16:78109833

Conflicting classifications of pathogenicity

Autosomal recessive spinocerebellar ataxia 12
Developmental and epileptic encephalopathy, 1
Developmental and epileptic encephalopathy, 28

Criteria Provided
Conflicting Classifications

CA8183093

rs_370579498

2 SubmittersRCV000650217 RCV001335817

NM_016373.4(WWOX):c.35C>G (p.Thr12Arg)

SNV
Germline

Chr16:78099813

Conflicting classifications of pathogenicity

Developmental and epileptic encephalopathy, 1
Autosomal recessive spinocerebellar ataxia 12
Autosomal recessive spinocerebellar ataxia 12

Criteria Provided
Conflicting Classifications

rs_1567567249

2 SubmittersRCV000690341 RCV002286420

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, 1
Developmental and epileptic encephalopathy, 28
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_200812468

5 SubmittersRCV000692826 RCV001252636 RCV001335816 RCV002532222 RCV003148830

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 SubmittersRCV000698733 RCV001507347

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
Condition: not provided
Developmental and epileptic encephalopathy, 28

Criteria Provided
Conflicting Classifications

rs_770023814

3 SubmittersRCV000696482 RCV001567822 RCV001809762

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 SubmittersRCV000688699 RCV000760719

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
Autosomal recessive spinocerebellar ataxia 12
Developmental and epileptic encephalopathy, 1
See cases
Condition: not provided
West syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1300924648

6 SubmittersRCV000850618 RCV000989638 RCV001858475 RCV002252255 RCV003332268 RCV003489939

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
Malignant tumor of esophagus
Developmental and epileptic encephalopathy, 1
Autosomal recessive spinocerebellar ataxia 12
Early Infantile Epileptic Encephalopathy, Autosomal Recessive
Malignant tumor of esophagus
Autosomal recessive spinocerebellar ataxia 12
Developmental and epileptic encephalopathy, 28
Abnormality of the nervous system
Condition: not provided
WWOX-related disorder
Autosomal recessive spinocerebellar ataxia 12

Criteria Provided
Multiple Submitters
No Conflicts

11 SubmittersRCV001004706 RCV002249620 RCV001389252 RCV002307653 RCV002505539 RCV001814252 RCV002286798 RCV003411947 RCV004559832

NM_016373.4(WWOX):c.538A>G (p.Met180Val)

SNV
Germline

Chr16:78386881

Conflicting classifications of pathogenicity

Condition: not provided
Developmental and epileptic encephalopathy, 1
Autosomal recessive spinocerebellar ataxia 12

Criteria Provided
Conflicting Classifications

rs_569297468

2 SubmittersRCV001091761 RCV001212923

NM_016373.4(WWOX):c.697C>A (p.His233Asn)

SNV
Germline

Chr16:78424961

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive spinocerebellar ataxia 12
Developmental and epileptic encephalopathy, 1

Criteria Provided
Conflicting Classifications

rs_757863128

2 SubmittersRCV001751418 RCV001219343

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 SubmittersRCV001247071 RCV002568673

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 SubmittersRCV001351418 RCV001586144 RCV004526115

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
Autosomal recessive spinocerebellar ataxia 12
Developmental and epileptic encephalopathy, 1

Criteria Provided
Conflicting Classifications

rs_780345312

2 SubmittersRCV001823026 RCV001869806

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 SubmittersRCV001867230 RCV002307770 RCV003235606

NM_016373.4(WWOX):c.533A>G (p.Glu178Gly)

SNV
Germline

Chr16:78386876

Conflicting classifications of pathogenicity

Developmental and epileptic encephalopathy, 1
Autosomal recessive spinocerebellar ataxia 12
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_764588235

2 SubmittersRCV001898241 RCV004041482

NM_016373.4(WWOX):c.517-1G>T

SNV
Germline

Chr16:78386859

Pathogenic

Developmental and epileptic encephalopathy, 1
Autosomal recessive spinocerebellar ataxia 12

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

Developmental and epileptic encephalopathy, 1
Autosomal recessive spinocerebellar ataxia 12
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_748534396

2 SubmittersRCV001954097 RCV004044447

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.766A>G (p.Ile256Val)

SNV
Germline

Chr16:78425030

Conflicting classifications of pathogenicity

Developmental and epileptic encephalopathy, 1
Autosomal recessive spinocerebellar ataxia 12
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_1023419687

2 SubmittersRCV001924493 RCV004970393

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

Developmental and epileptic encephalopathy, 1
Autosomal recessive spinocerebellar ataxia 12

Criteria Provided
Single Submitter

1 SubmittersRCV003064358

NM_016373.4(WWOX):c.2T>C (p.Met1Thr)

SNV
Germline

Chr16:78099780

Pathogenic

Autosomal recessive spinocerebellar ataxia 12
Developmental and epileptic encephalopathy, 1

Criteria Provided
Single Submitter

1 SubmittersRCV002570027

NM_016373.4(WWOX):c.1A>C (p.Met1Leu)

SNV
Germline

Chr16:78099779

Pathogenic

Autosomal recessive spinocerebellar ataxia 12
Developmental and epileptic encephalopathy, 1

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

Developmental and epileptic encephalopathy, 1
Autosomal recessive spinocerebellar ataxia 12

Criteria Provided
Single Submitter

1 SubmittersRCV003792092

NM_016373.4(WWOX):c.863G>A (p.Trp288Ter)

SNV
Germline

Chr16:78432559

Pathogenic

Developmental and epileptic encephalopathy, 1
Autosomal recessive spinocerebellar ataxia 12

Criteria Provided
Single Submitter

1 SubmittersRCV003805646