Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_002739.5(PRKCG):c.301C>T (p.His101Tyr)	SNV Germline	Chr19:53889653	Pathogenic	Spinocerebellar ataxia type 14 Condition: not provided	Criteria Provided Single Submitter	CA341257	rs_121918511	4 SubmittersRCV000014149 RCV001268861
NM_002739.5(PRKCG):c.355T>C (p.Ser119Pro)	SNV Germline	Chr19:53889707	Pathogenic	Spinocerebellar ataxia type 14	Criteria Provided Single Submitter	CA341259	rs_121918512	3 SubmittersRCV000014150
NM_002739.5(PRKCG):c.383G>A (p.Gly128Asp)	SNV Germline	Chr19:53889735	Pathogenic	Spinocerebellar ataxia type 14 Condition: not provided	Criteria Provided Single Submitter	CA341261	rs_121918513	3 SubmittersRCV000014151 RCV005252680
NM_002739.5(PRKCG):c.353G>A (p.Gly118Asp)	SNV Germline	Chr19:53889705	Pathogenic	Spinocerebellar ataxia type 14 Condition: not provided	Criteria Provided Single Submitter	CA341263	rs_121918514	6 SubmittersRCV000014152 RCV001698941
NM_002739.5(PRKCG):c.380A>G (p.Gln127Arg)	SNV Germline	Chr19:53889732	Pathogenic	Spinocerebellar ataxia type 14 Condition: not provided	Criteria Provided Single Submitter	CA341266	rs_121918515	3 SubmittersRCV000014153 RCV000517594
NM_002739.5(PRKCG):c.1927T>C (p.Phe643Leu)	SNV Germline	Chr19:53906728	Pathogenic	Spinocerebellar ataxia type 14	No Assertion Criteria Provided	CA341269	rs_121918516	2 SubmittersRCV000014154
NM_002739.5(PRKCG):c.1081A>G (p.Ser361Gly)	SNV Germline	Chr19:53898100	Likely pathogenic	Spinocerebellar ataxia type 14 Condition: not provided	Criteria Provided Single Submitter	CA341272	rs_121918517	3 SubmittersRCV000014155 RCV001288717
NM_002739.5(PRKCG):c.303C>G (p.His101Gln)	SNV Germline	Chr19:53889655	Pathogenic	Spinocerebellar ataxia type 14	No Assertion Criteria Provided	CA341275	rs_121918518	2 SubmittersRCV000014156
NM_004977.3(KCNC3):c.1259G>A (p.Arg420His)	SNV Germline	Chr19:50323694	Pathogenic	Spinocerebellar ataxia type 13 Condition: not provided Hereditary ataxia	Criteria Provided Multiple Submitters No Conflicts	CA256861	rs_104894699	13 SubmittersRCV000014415 RCV000992229 RCV005624688
NM_004977.3(KCNC3):c.1344C>A (p.Phe448Leu)	SNV Germline	Chr19:50323609	Pathogenic	Spinocerebellar ataxia type 13	No Assertion Criteria Provided	CA256862	rs_104894700	1 SubmittersRCV000014416
NM_001378452.1(ITPR1):c.3248C>T (p.Pro1083Leu)	SNV Germline	Chr3:4683472	Pathogenic	Spinocerebellar ataxia type 15/16	No Assertion Criteria Provided	CA341334	rs_121912425	2 SubmittersRCV000015924
NM_002739.5(PRKCG):c.1438G>T (p.Asp480Tyr)	SNV Germline	Chr19:53900612	Pathogenic	Spinocerebellar ataxia type 14	No Assertion Criteria Provided	CA259672	rs_387906679	1 SubmittersRCV000022737
NM_001378452.1(ITPR1):c.4684G>A (p.Val1562Met)	SNV Germline	Chr3:4706193	Pathogenic	Spinocerebellar ataxia type 29 Condition: not provided Neurodevelopmental disorder Inborn genetic diseases Spinocerebellar ataxia type 15/16	Criteria Provided Multiple Submitters No Conflicts	CA261182	rs_397514535	11 SubmittersRCV000032771 RCV001091682 RCV003389037 RCV000624908 RCV004767027
NM_002739.5(PRKCG):c.1078G>A (p.Gly360Ser)	SNV Unknown	Chr19:53898097	Pathogenic	Spinocerebellar ataxia type 14	No Assertion Criteria Provided	CA344584	rs_386134171	1 SubmittersRCV000034956
NM_002739.5(PRKCG):c.122G>C (p.Arg41Pro)	SNV Germline	Chr19:53882616	Likely pathogenic	Spinocerebellar ataxia type 14 Condition: not provided	Criteria Provided Single Submitter	CA344589	rs_386134158	2 SubmittersRCV000034959 RCV004700304
NM_002739.5(PRKCG):c.188G>T (p.Gly63Val)	SNV Germline	Chr19:53883180	Likely pathogenic	Spinocerebellar ataxia type 14 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA344597	rs_386134159	3 SubmittersRCV000034967 RCV001818213
NM_002739.5(PRKCG):c.2075T>G (p.Val692Gly)	SNV Germline	Chr19:53906876	Conflicting classifications of pathogenicity	Spinocerebellar ataxia type 14 Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA344603	rs_78437096	3 SubmittersRCV000034972 RCV000766758 RCV000516815
NM_002739.5(PRKCG):c.229T>A (p.Cys77Ser)	SNV Unknown	Chr19:53884187	Pathogenic	Spinocerebellar ataxia type 14	No Assertion Criteria Provided	CA344608	rs_386134160	1 SubmittersRCV000034975
NM_002739.5(PRKCG):c.341G>A (p.Cys114Tyr)	SNV Unknown	Chr19:53889693	Pathogenic	Spinocerebellar ataxia type 14	No Assertion Criteria Provided	CA344621	rs_386134162	1 SubmittersRCV000034988
NM_002739.5(PRKCG):c.356C>T (p.Ser119Phe)	SNV Unknown	Chr19:53889708	Pathogenic	Spinocerebellar ataxia type 14 Condition: not provided	Criteria Provided Single Submitter	CA344624	rs_386134163	2 SubmittersRCV000034990 RCV000713005
NM_002739.5(PRKCG):c.367G>A (p.Gly123Arg)	SNV Unknown	Chr19:53889719	Pathogenic	Spinocerebellar ataxia type 14	No Assertion Criteria Provided	CA344627	rs_386134164	1 SubmittersRCV000034991
NM_002739.5(PRKCG):c.368G>A (p.Gly123Glu)	SNV Germline	Chr19:53889720	Likely pathogenic	Spinocerebellar ataxia type 14 Condition: not provided	Criteria Provided Single Submitter	CA344630	rs_386134165	2 SubmittersRCV000034992 RCV003886368
NM_002739.5(PRKCG):c.391T>C (p.Cys131Arg)	SNV Germline	Chr19:53889743	Likely pathogenic	Spinocerebellar ataxia type 14	Criteria Provided Single Submitter	CA344633	rs_386134166	2 SubmittersRCV000034993
NM_002739.5(PRKCG):c.413T>A (p.Val138Glu)	SNV Germline	Chr19:53889901	Pathogenic	Spinocerebellar ataxia type 14 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA344640	rs_386134168	3 SubmittersRCV000034996 RCV000992818
NM_002739.5(PRKCG):c.417C>A (p.His139Gln)	SNV Unknown	Chr19:53889905	Pathogenic	Spinocerebellar ataxia type 14	No Assertion Criteria Provided	CA344646	rs_386134169	1 SubmittersRCV000034998
NM_001378969.1(KCND3):c.1054A>C (p.Thr352Pro)	SNV Germline	Chr1:111981673	Pathogenic	Spinocerebellar ataxia type 19/22 Condition: not provided	Criteria Provided Single Submitter	CA264792	rs_397515476	3 SubmittersRCV000056299 RCV001268855
NM_001378969.1(KCND3):c.1169G>A (p.Ser390Asn)	SNV Germline	Chr1:111787044	Conflicting classifications of pathogenicity	Variant of unknown significance Spinocerebellar ataxia type 19/22	No Assertion Criteria Provided	CA144862	rs_397515478	2 SubmittersRCV000056301 RCV001849175
NM_173500.4(TTBK2):c.3329G>A (p.Arg1110His)	SNV Germline	Chr15:42746201	Conflicting classifications of pathogenicity	not specified Condition: not provided Spinocerebellar ataxia type 11 TTBK2-related disorder	Criteria Provided Conflicting Classifications	CA7516595	rs_146279300	5 SubmittersRCV000516940 RCV002054917 RCV001119904 RCV003905032
NM_001378969.1(KCND3):c.1348C>T (p.Leu450Phe)	SNV Germline	Chr1:111780713	Conflicting classifications of pathogenicity	Brugada syndrome 9 Condition: not provided Spinocerebellar ataxia type 19/22 Cardiovascular phenotype not specified	Criteria Provided Conflicting Classifications	CA200129	rs_150401343	11 SubmittersRCV000172842 RCV000415916 RCV000552635 RCV000618307 RCV002247580
NM_001378969.1(KCND3):c.1798G>A (p.Gly600Arg)	SNV Germline	Chr1:111776247	Conflicting classifications of pathogenicity	Brugada syndrome 9 Condition: not provided Cardiovascular phenotype Spinocerebellar ataxia type 19/22 Brugada syndrome 9 Spinocerebellar ataxia type 19/22	Criteria Provided Conflicting Classifications	CA052108	rs_149344567	7 SubmittersRCV000172843 RCV000712060 RCV000619002 RCV001370775 RCV002505242
NM_001378969.1(KCND3):c.1174G>A (p.Val392Ile)	SNV Germline	Chr1:111787039	Pathogenic/Likely pathogenic	Brugada syndrome 9 Condition: not provided Spinocerebellar ataxia type 19/22	Criteria Provided Multiple Submitters No Conflicts	CA200132	rs_786205867	6 SubmittersRCV000172844 RCV000444260 RCV000460804
NM_001378452.1(ITPR1):c.800C>T (p.Thr267Met)	SNV Germline	Chr3:4645673	Pathogenic	Inborn genetic diseases Spinocerebellar ataxia type 29 Condition: not provided Spinocerebellar ataxia type 15/16	Criteria Provided Multiple Submitters No Conflicts	CA204907	rs_797044955	11 SubmittersRCV000190812 RCV000677366 RCV001552791 RCV003152595
NM_004977.3(KCNC3):c.1268G>A (p.Arg423His)	SNV Germline	Chr19:50323685	Pathogenic	Inborn genetic diseases Condition: not provided Spinocerebellar ataxia type 13	Criteria Provided Multiple Submitters No Conflicts	CA204646	rs_797044872	21 SubmittersRCV000190682 RCV000277864 RCV000613729
NM_001378969.1(KCND3):c.1034G>T (p.Gly345Val)	SNV Germline	Chr1:111981693	Pathogenic	Spinocerebellar ataxia type 19/22	Criteria Provided Single Submitter	CA277344	rs_797045634	1 SubmittersRCV000194577
NM_001128164.2(ATXN1):c.621G>T (p.Gln207His)	SNV Germline	Chr6:16327690	Conflicting classifications of pathogenicity	not specified Spinocerebellar ataxia type 1	Criteria Provided Conflicting Classifications	CA207267	rs_201030692	2 SubmittersRCV000193645 RCV001262838
NM_002739.5(PRKCG):c.154T>A (p.Cys52Ser)	SNV Germline	Chr19:53882648	Likely pathogenic	Spinocerebellar ataxia type 14	Criteria Provided Single Submitter	CA277394	rs_797045900	1 SubmittersRCV000194843
NM_001378969.1(KCND3):c.641A>G (p.Lys214Arg)	SNV Germline	Chr1:111982086	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype KCND3-related disorder Spinocerebellar ataxia type 19/22 Condition: not provided	Criteria Provided Conflicting Classifications	CA354891	rs_142744204	10 SubmittersRCV000208485 RCV000249346 RCV004737334 RCV000558965 RCV001555788
NM_001378452.1(ITPR1):c.7784G>A (p.Gly2595Glu)	SNV Germline	Chr3:4815135	Pathogenic	Spinocerebellar ataxia type 15/16 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA353411	rs_869312685	3 SubmittersRCV000209834 RCV001310467
NM_004977.3(KCNC3):c.1283C>T (p.Thr428Ile)	SNV Germline	Chr19:50323670	Pathogenic	Spinocerebellar ataxia type 13	No Assertion Criteria Provided	CA10584651	rs_879253883	1 SubmittersRCV000235759
NM_001378969.1(KCND3):c.1646G>A (p.Arg549His)	SNV Germline	Chr1:111777146	Conflicting classifications of pathogenicity	Cardiovascular phenotype Spinocerebellar ataxia type 19/22 not specified	Criteria Provided Conflicting Classifications	CA1007379	rs_35027371	5 SubmittersRCV000243000 RCV000696815 RCV004999188
NM_001378452.1(ITPR1):c.805C>T (p.Arg269Trp)	SNV Germline	Chr3:4645678	Pathogenic/Likely pathogenic	Condition: not provided Inborn genetic diseases Spinocerebellar ataxia type 29 Gillespie syndrome Spinocerebellar ataxia type 29 Spinocerebellar ataxia type 15/16 Gillespie syndrome Neurodevelopmental disorder Spinocerebellar ataxia type 15/16	Criteria Provided Multiple Submitters No Conflicts	CA10588363	rs_886039392	19 SubmittersRCV000254736 RCV000623132 RCV000677359 RCV000850563 RCV000995787 RCV002278250 RCV003335291
NM_001378452.1(ITPR1):c.2732C>T (p.Ala911Val)	SNV Germline	Chr3:4675201	Conflicting classifications of pathogenicity	Autosomal dominant cerebellar ataxia Spinocerebellar ataxia type 29 Condition: not provided Inborn genetic diseases Gillespie syndrome Spinocerebellar ataxia type 29 Spinocerebellar ataxia type 15/16	Criteria Provided Conflicting Classifications	CA2231486	rs_201519806	8 SubmittersRCV000377614 RCV000677361 RCV001598658 RCV002523265 RCV005398472
NM_173500.4(TTBK2):c.3543G>A (p.Ser1181=)	SNV Germline	Chr15:42745987	Conflicting classifications of pathogenicity	Condition: not provided Spinocerebellar ataxia type 11 not specified	Criteria Provided Conflicting Classifications	CA7516551	rs_199635198	4 SubmittersRCV000415817 RCV000337906 RCV001660650
NM_173500.4(TTBK2):c.3185C>T (p.Thr1062Ile)	SNV Germline	Chr15:42752061	Conflicting classifications of pathogenicity	Spinocerebellar ataxia type 11 Condition: not provided not specified Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7516634	rs_55833708	7 SubmittersRCV000303717 RCV000903326 RCV001289303 RCV002522786
NM_173500.4(TTBK2):c.3331C>G (p.Leu1111Val)	SNV Germline	Chr15:42746199	Conflicting classifications of pathogenicity	Spinocerebellar ataxia type 11 Condition: not provided not specified TTBK2-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7516594	rs_144199562	5 SubmittersRCV000341289 RCV000925780 RCV001289306 RCV003957636 RCV002522352
NM_173500.4(TTBK2):c.*1153G>A	SNV Germline	Chr15:42744642	Conflicting classifications of pathogenicity	Spinocerebellar ataxia type 11 Condition: not provided	Criteria Provided Conflicting Classifications	CA10645955	rs_781080005	2 SubmittersRCV000353255 RCV003401328
NM_173500.4(TTBK2):c.3418C>T (p.Pro1140Ser)	SNV Germline	Chr15:42746112	Conflicting classifications of pathogenicity	Spinocerebellar ataxia type 11 Condition: not provided Inborn genetic diseases not specified	Criteria Provided Conflicting Classifications	CA7516580	rs_576737530	4 SubmittersRCV000298038 RCV001289307 RCV002520956 RCV004999308
NM_173500.4(TTBK2):c.2210T>C (p.Ile737Thr)	SNV Germline	Chr15:42753036	Conflicting classifications of pathogenicity	Spinocerebellar ataxia type 11 Condition: not provided not specified Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7516766	rs_146515654	5 SubmittersRCV000318500 RCV000960691 RCV001288858 RCV004021632
NM_173500.4(TTBK2):c.2278C>T (p.Pro760Ser)	SNV Germline	Chr15:42752968	Conflicting classifications of pathogenicity	Spinocerebellar ataxia type 11 Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA7516758	rs_117382379	3 SubmittersRCV000275220 RCV002522788 RCV003105867
NM_173500.4(TTBK2):c.1555G>C (p.Ala519Pro)	SNV Germline	Chr15:42775578	Conflicting classifications of pathogenicity	Spinocerebellar ataxia type 11 Condition: not provided Inborn genetic diseases TTBK2-related disorder not specified	Criteria Provided Conflicting Classifications	CA7516869	rs_200124857	6 SubmittersRCV000379173 RCV000658708 RCV002522789 RCV003969883 RCV000518308
NM_173500.4(TTBK2):c.595C>T (p.Arg199Trp)	SNV Germline	Chr15:42817040	Conflicting classifications of pathogenicity	Spinocerebellar ataxia type 11 Spastic ataxia Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7517435	rs_200125366	6 SubmittersRCV000400925 RCV001642984 RCV001357218 RCV002522790
NM_002739.5(PRKCG):c.1730C>T (p.Ser577Leu)	SNV Germline	Chr19:53904708	Conflicting classifications of pathogenicity	Spinocerebellar ataxia type 14 Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA9640685	rs_551805527	4 SubmittersRCV000318440 RCV002521249 RCV005243199
NM_001378969.1(KCND3):c.5C>A (p.Ala2Glu)	SNV Germline	Chr1:111982722	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Condition: not provided Spinocerebellar ataxia type 19/22	Criteria Provided Conflicting Classifications	CA1007663	rs_201340369	7 SubmittersRCV000413117 RCV000618676 RCV000845314 RCV001080205
NM_001378969.1(KCND3):c.1153T>C (p.Ser385Pro)	SNV Germline	Chr1:111787060	Pathogenic	Spinocerebellar ataxia type 19/22 Condition: not provided	Criteria Provided Single Submitter	CA16044213	rs_1057519453	2 SubmittersRCV000416456 RCV004719810
NM_001378969.1(KCND3):c.1111G>A (p.Gly371Arg)	SNV Germline	Chr1:111787102	Conflicting classifications of pathogenicity	Condition: not provided Spinocerebellar ataxia type 19/22 Brugada syndrome 9 Neurodevelopmental delay	Criteria Provided Conflicting Classifications	CA16603398	rs_1057521793	7 SubmittersRCV000430266 RCV000757925 RCV002255097 RCV003223405
NM_001378969.1(KCND3):c.1456A>G (p.Thr486Ala)	SNV Germline	Chr1:111780230	Conflicting classifications of pathogenicity	not specified Condition: not provided Spinocerebellar ataxia type 19/22 Cardiovascular phenotype KCND3-related disorder	Criteria Provided Conflicting Classifications	CA1007433	rs_149008060	7 SubmittersRCV000482547 RCV000786333 RCV001079066 RCV002393199 RCV004551555
NM_173500.4(TTBK2):c.3722A>C (p.Lys1241Thr)	SNV Germline	Chr15:42745808	Conflicting classifications of pathogenicity	Spinocerebellar ataxia type 11 Condition: not provided	Criteria Provided Conflicting Classifications	CA7516505	rs_36104367	4 SubmittersRCV000765208 RCV000488259
NM_001378969.1(KCND3):c.1370C>T (p.Thr457Met)	SNV Germline	Chr1:111780691	Conflicting classifications of pathogenicity	Condition: not provided Brugada syndrome 9 Brugada syndrome 9 Spinocerebellar ataxia type 19/22 Spinocerebellar ataxia type 19/22 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA1007457	rs_199637120	5 SubmittersRCV000498826 RCV000505597 RCV002481586 RCV001857017 RCV003302733
NM_002739.5(PRKCG):c.197G>A (p.Cys66Tyr)	SNV Germline	Chr19:53883189	Likely pathogenic	Spinocerebellar ataxia type 14	Criteria Provided Single Submitter	CA407412474	rs_1555806333	2 SubmittersRCV000501395
NM_173500.4(TTBK2):c.1274G>A (p.Arg425His)	SNV Germline	Chr15:42777166	Conflicting classifications of pathogenicity	not specified Condition: not provided Spinocerebellar ataxia type 11	Criteria Provided Conflicting Classifications	CA7516922	rs_370495535	5 SubmittersRCV001644620 RCV002525100 RCV005398742
NM_001378452.1(ITPR1):c.736G>A (p.Glu246Lys)	SNV Germline	Chr3:4645609	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Spinocerebellar ataxia type 29 Gillespie syndrome Spinocerebellar ataxia type 29 Spinocerebellar ataxia type 15/16	Criteria Provided Conflicting Classifications	CA351636431	rs_1553666546	5 SubmittersRCV000519089 RCV000624199 RCV000677367 RCV005027620
NM_001378969.1(KCND3):c.1519-5C>T	SNV Germline	Chr1:111777278	Conflicting classifications of pathogenicity	Spinocerebellar ataxia type 19/22 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA1007395	rs_376408039	2 SubmittersRCV001488862 RCV002395385
NM_001105206.3(LAMA4):c.3742A>G (p.Ile1248Val)	SNV Germline	Chr6:112132845	Conflicting classifications of pathogenicity	Familial atrial fibrillation Brugada syndrome 9 Primary dilated cardiomyopathy Spinocerebellar ataxia type 19/22 Dilated cardiomyopathy 1JJ Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA3965136	rs_547323858	3 SubmittersRCV000578048 RCV000578098 RCV000578116 RCV000577985 RCV000578042 RCV000951026 RCV003159972
NM_001378969.1(KCND3):c.186G>A (p.Pro62=)	SNV Germline	Chr1:111982541	Conflicting classifications of pathogenicity	Condition: not provided Cardiovascular phenotype Spinocerebellar ataxia type 19/22	Criteria Provided Conflicting Classifications	CA419708374	rs_1411627342	4 SubmittersRCV000994072 RCV000621298 RCV002529394
NM_002739.5(PRKCG):c.1747G>A (p.Val583Met)	SNV Germline	Chr19:53904725	Conflicting classifications of pathogenicity	Spinocerebellar ataxia type 14 Condition: not provided	Criteria Provided Conflicting Classifications	CA9640689	rs_143513754	5 SubmittersRCV000600767 RCV001288723
NM_001378969.1(KCND3):c.1756C>G (p.Leu586Val)	SNV Germline	Chr1:111777036	Conflicting classifications of pathogenicity	Brugada syndrome 9 Cardiovascular phenotype Spinocerebellar ataxia type 19/22 Condition: not provided	Criteria Provided Conflicting Classifications	CA1007361	rs_778053688	4 SubmittersRCV000678953 RCV000621723 RCV000801665 RCV005000387
NM_001378969.1(KCND3):c.1292G>A (p.Arg431His)	SNV Germline	Chr1:111780769	Conflicting classifications of pathogenicity	Cardiovascular phenotype Condition: not provided Spinocerebellar ataxia type 19/22 Brugada syndrome 9	Criteria Provided Conflicting Classifications	CA1007474	rs_771703569	5 SubmittersRCV000619969 RCV000992219 RCV001226501 RCV003338690
NM_001378969.1(KCND3):c.626C>T (p.Thr209Met)	SNV Germline	Chr1:111982101	Conflicting classifications of pathogenicity	Cardiovascular phenotype Condition: not provided Spinocerebellar ataxia type 19/22	Criteria Provided Conflicting Classifications	CA1007580	rs_771878661	3 SubmittersRCV000617249 RCV003129942 RCV005091773
NM_001378452.1(ITPR1):c.7648G>A (p.Gly2550Arg)	SNV Germline	Chr3:4814509	Conflicting classifications of pathogenicity	Inborn genetic diseases Condition: not provided Spinocerebellar ataxia type 29 Gillespie syndrome Spinocerebellar ataxia type 15/16 Spinocerebellar ataxia type 29	Criteria Provided Conflicting Classifications	CA351649065	rs_1553757628	6 SubmittersRCV000622722 RCV000992210 RCV001542743 RCV000764511
NM_001378969.1(KCND3):c.1703G>A (p.Arg568His)	SNV Germline	Chr1:111777089	Conflicting classifications of pathogenicity	Spinocerebellar ataxia type 19/22 Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA1007369	rs_200212002	3 SubmittersRCV000640964 RCV001563036 RCV002397224
NM_001378452.1(ITPR1):c.4333G>A (p.Val1445Met)	SNV Germline	Chr3:4697198	Likely pathogenic	Spinocerebellar ataxia type 15/16 Spinocerebellar ataxia type 29 Gillespie syndrome ITPR1-related disorders Spinocerebellar ataxia type 29	Criteria Provided Multiple Submitters No Conflicts	CA351632360	rs_1559718601	3 SubmittersRCV002311994 RCV005250102 RCV002268270
NM_001378969.1(KCND3):c.1769G>A (p.Arg590His)	SNV Germline	Chr1:111776276	Conflicting classifications of pathogenicity	Condition: not provided Spinocerebellar ataxia type 19/22 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA1007340	rs_186194682	4 SubmittersRCV000712058 RCV001233302 RCV003303204
NM_181675.4(PPP2R2B):c.707A>G (p.Asn236Ser)	SNV Germline	Chr5:146638334	Conflicting classifications of pathogenicity	Condition: not provided Spinocerebellar ataxia type 12	Criteria Provided Conflicting Classifications	CA3492666	rs_150981315	2 SubmittersRCV000762169 RCV005392359
NM_001378969.1(KCND3):c.1130C>T (p.Thr377Met)	SNV Germline	Chr1:111787083	Pathogenic	Spinocerebellar ataxia type 19/22 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA341660948	rs_1571636501	7 SubmittersRCV000853621 RCV001268117
NM_001378969.1(KCND3):c.1123C>T (p.Pro375Ser)	SNV Germline	Chr1:111787090	Pathogenic	Spinocerebellar ataxia type 19/22	Criteria Provided Single Submitter	CA341660982	rs_1571636508	1 SubmittersRCV000853620
NM_001378969.1(KCND3):c.1013T>A (p.Val338Glu)	SNV Germline	Chr1:111981714	Pathogenic	Spinocerebellar ataxia type 19/22	Criteria Provided Single Submitter	CA341820797	rs_1571939827	1 SubmittersRCV000853619
NM_001378969.1(KCND3):c.950G>A (p.Cys317Tyr)	SNV Germline	Chr1:111981777	Pathogenic	Spinocerebellar ataxia type 19/22	Criteria Provided Single Submitter	CA341821002	rs_1571939905	1 SubmittersRCV000853618
NM_002739.5(PRKCG):c.230G>A (p.Cys77Tyr)	SNV Germline	Chr19:53884188	Conflicting classifications of pathogenicity	Spinocerebellar ataxia type 14 Condition: not provided	Criteria Provided Conflicting Classifications	CA407412691	rs_1599938631	3 SubmittersRCV000991052 RCV000992815
NM_002739.5(PRKCG):c.367G>C (p.Gly123Arg)	SNV Unknown	Chr19:53889719	Conflicting classifications of pathogenicity	Spinocerebellar ataxia type 14 Condition: not provided	Criteria Provided Conflicting Classifications	CA407414256	rs_386134164	2 SubmittersRCV000991053 RCV001288726
NM_002739.5(PRKCG):c.379C>A (p.Gln127Lys)	SNV Germline	Chr19:53889731	Likely pathogenic	Spinocerebellar ataxia type 14 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA407414280	rs_1599943097	2 SubmittersRCV000991047 RCV003480895
NM_001378452.1(ITPR1):c.4421C>T (p.Thr1474Ile)	SNV Germline	Chr3:4699826	Conflicting classifications of pathogenicity	Condition: not provided Autosomal dominant cerebellar ataxia Spinocerebellar ataxia type 15/16 Intellectual disability Inborn genetic diseases not specified ITPR1-related disorder	Criteria Provided Conflicting Classifications	CA2231990	rs_188558398	10 SubmittersRCV000992197 RCV001147931 RCV001262674 RCV001251784 RCV002549783 RCV005056723 RCV003943298
NM_173500.4(TTBK2):c.1100A>T (p.Lys367Ile)	SNV Germline	Chr15:42783516	Conflicting classifications of pathogenicity	Condition: not provided Spinocerebellar ataxia type 11	Criteria Provided Conflicting Classifications	CA7516970	rs_764753481	3 SubmittersRCV000993244 RCV001118473
NM_001378969.1(KCND3):c.1070C>T (p.Ser357Leu)	SNV Germline	Chr1:111981657	Conflicting classifications of pathogenicity	Spinocerebellar ataxia type 19/22 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA29326273	rs_867628133	3 SubmittersRCV001027678 RCV003307800
NM_173500.4(TTBK2):c.1499G>T (p.Arg500Leu)	SNV Germline	Chr15:42775634	Conflicting classifications of pathogenicity	Spinocerebellar ataxia type 11 Condition: not provided	Criteria Provided Conflicting Classifications	CA7516878	rs_56039839	2 SubmittersRCV001115318 RCV002556262
NM_002739.5(PRKCG):c.940-3C>T	SNV Germline	Chr19:53897956	Conflicting classifications of pathogenicity	Spinocerebellar ataxia type 14 Condition: not provided	Criteria Provided Conflicting Classifications	CA9640482	rs_377593245	2 SubmittersRCV001131453 RCV005243476
NM_001378452.1(ITPR1):c.256G>A (p.Ala86Thr)	SNV Germline	Chr3:4627855	Conflicting classifications of pathogenicity	Autosomal dominant cerebellar ataxia Spinocerebellar ataxia type 15/16 Condition: not provided	Criteria Provided Conflicting Classifications	CA2230834	rs_767787371	5 SubmittersRCV001145472 RCV004789406 RCV003142080
NM_002739.5(PRKCG):c.302A>G (p.His101Arg)	SNV Germline	Chr19:53889654	Likely pathogenic	Spinocerebellar ataxia type 14	No Assertion Criteria Provided	CA407414110	rs_2068656783	2 SubmittersRCV001175615
NM_001128164.2(ATXN1):c.609G>T (p.Gln203His)	SNV Germline	Chr6:16327702	Conflicting classifications of pathogenicity	Spinocerebellar ataxia type 1 Inborn genetic diseases ATXN1-related disorder	Criteria Provided Conflicting Classifications	CA3645584	rs_199744696	3 SubmittersRCV001198089 RCV002559262 RCV003908443
NM_001378969.1(KCND3):c.1889G>A (p.Arg630Gln)	SNV Germline	Chr1:111776156	Conflicting classifications of pathogenicity	Spinocerebellar ataxia type 19/22 Cardiovascular phenotype not specified Condition: not provided Brugada syndrome 9 Spinocerebellar ataxia type 19/22	Criteria Provided Conflicting Classifications	CA1007323	rs_774713377	5 SubmittersRCV001203107 RCV002411741 RCV004768909 RCV003148945 RCV002504232
NM_001378969.1(KCND3):c.869G>A (p.Arg290Gln)	SNV Germline	Chr1:111981858	Likely pathogenic	Spinocerebellar ataxia type 19/22 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA341821180	rs_1674966041	2 SubmittersRCV001253322 RCV002462885
NM_004977.3(KCNC3):c.1223A>G (p.Asp408Gly)	SNV Germline	Chr19:50323730	Likely pathogenic	Spinocerebellar ataxia type 13	Criteria Provided Single Submitter	CA406952153	rs_2037067131	1 SubmittersRCV001253200
NM_001378969.1(KCND3):c.1649G>A (p.Arg550His)	SNV Germline	Chr1:111777143	Conflicting classifications of pathogenicity	Condition: not provided Spinocerebellar ataxia type 19/22 Brugada syndrome 9 Spinocerebellar ataxia type 19/22 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA1007377	rs_151164490	4 SubmittersRCV001289015 RCV001871726 RCV002493522 RCV002393688
NM_001378969.1(KCND3):c.1150G>A (p.Gly384Ser)	SNV Germline	Chr1:111787063	Pathogenic/Likely pathogenic	Condition: not provided Cardiovascular phenotype Spinocerebellar ataxia type 19/22 Hereditary ataxia	Criteria Provided Multiple Submitters No Conflicts	CA341660870	rs_1664632655	6 SubmittersRCV001289013 RCV004629532 RCV003389334 RCV005626384
NM_001378969.1(KCND3):c.611C>T (p.Thr204Met)	SNV Germline	Chr1:111982116	Conflicting classifications of pathogenicity	Spinocerebellar ataxia type 19/22 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA341821746	rs_2101997230	2 SubmittersRCV001647138 RCV002357167
NM_173500.4(TTBK2):c.239T>A (p.Phe80Tyr)	SNV Unknown	Chr15:42840412	Likely pathogenic	Spinocerebellar ataxia type 11	Criteria Provided Single Submitter	CA7517532	rs_778218227	1 SubmittersRCV001647210
NM_002739.5(PRKCG):c.358C>T (p.Leu120Phe)	SNV Germline	Chr19:53889710	Likely pathogenic	Spinocerebellar ataxia type 14	Criteria Provided Multiple Submitters No Conflicts	CA407414239	rs_2122988567	2 SubmittersRCV001647199
NM_002739.5(PRKCG):c.380A>C (p.Gln127Pro)	SNV Unknown	Chr19:53889732	Likely pathogenic	Spinocerebellar ataxia type 14	Criteria Provided Single Submitter	CA407414283	rs_121918515	1 SubmittersRCV001647231
NM_002739.5(PRKCG):c.419G>A (p.Arg140Gln)	SNV Germline	Chr19:53889907	Conflicting classifications of pathogenicity	Spinocerebellar ataxia type 14 Condition: not provided	Criteria Provided Conflicting Classifications	CA9640292	rs_770016586	3 SubmittersRCV001647232 RCV004998829
NM_002739.5(PRKCG):c.466G>A (p.Glu156Lys)	SNV Germline	Chr19:53889954	Conflicting classifications of pathogenicity	Spinocerebellar ataxia type 14 Condition: not provided	Criteria Provided Conflicting Classifications	CA407414483	rs_1304701232	3 SubmittersRCV001647202 RCV001664829
NM_002739.5(PRKCG):c.1308C>G (p.Tyr436Ter)	SNV Germline	Chr19:53900259	Pathogenic	Spinocerebellar ataxia type 14	Criteria Provided Single Submitter	CA407418278	rs_955612922	1 SubmittersRCV001647203
NM_002739.5(PRKCG):c.1381G>A (p.Ala461Thr)	SNV Unknown	Chr19:53900426	Likely pathogenic	Spinocerebellar ataxia type 14	Criteria Provided Single Submitter	CA9640595	rs_749266717	1 SubmittersRCV001647201
NM_002739.5(PRKCG):c.1928T>G (p.Phe643Cys)	SNV Unknown	Chr19:53906729	Likely pathogenic	Spinocerebellar ataxia type 14	Criteria Provided Single Submitter	CA407420356	rs_386134172	1 SubmittersRCV001647200
NM_002739.5(PRKCG):c.323A>G (p.Tyr108Cys)	SNV Germline	Chr19:53889675	Likely pathogenic	Spinocerebellar ataxia type 14	No Assertion Criteria Provided	CA407414159	rs_2122988484	2 SubmittersRCV001542611
NM_002739.5(PRKCG):c.381G>T (p.Gln127His)	SNV Germline	Chr19:53889733	Likely pathogenic	Spinocerebellar ataxia type 14	No Assertion Criteria Provided	CA407414286	rs_973767996	1 SubmittersRCV001542612
NM_002739.5(PRKCG):c.394T>C (p.Ser132Pro)	SNV Germline	Chr19:53889746	Likely pathogenic	Spinocerebellar ataxia type 14	No Assertion Criteria Provided	CA407414314	rs_2122988688	1 SubmittersRCV001542613
NM_001378452.1(ITPR1):c.748T>C (p.Phe250Leu)	SNV Germline	Chr3:4645621	Pathogenic/Likely pathogenic	Spinocerebellar ataxia type 15/16 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA351636523	rs_2125159710	2 SubmittersRCV001729945 RCV001545840
NM_001378969.1(KCND3):c.1314G>A (p.Ser438=)	SNV Germline	Chr1:111780747	Conflicting classifications of pathogenicity	Condition: not provided Cardiovascular phenotype Spinocerebellar ataxia type 19/22	Criteria Provided Conflicting Classifications	CA419529832	rs_1247179970	3 SubmittersRCV001663479 RCV003163786 RCV003640983
NM_002739.5(PRKCG):c.107A>G (p.His36Arg)	SNV Unknown	Chr19:53882601	Pathogenic	Spinocerebellar ataxia type 14	No Assertion Criteria Provided	CA407412035	rs_2122973105	1 SubmittersRCV001849199
NM_173500.4(TTBK2):c.3466C>T (p.Arg1156Ter)	SNV Germline	Chr15:42746064	Likely pathogenic	Spinocerebellar ataxia type 11	No Assertion Criteria Provided	CA7516570	rs_770444240	1 SubmittersRCV001849234
NM_001378452.1(ITPR1):c.1516C>T (p.Arg506Trp)	SNV Unknown	Chr3:4663168	Likely pathogenic	Spinocerebellar ataxia type 15/16	Criteria Provided Single Submitter	CA351641466	rs_2093873570	1 SubmittersRCV001733872
NM_001378969.1(KCND3):c.983T>G (p.Leu328Arg)	SNV Germline	Chr1:111981744	Conflicting classifications of pathogenicity	Condition: not provided Spinocerebellar ataxia type 19/22	Criteria Provided Conflicting Classifications	CA341820927	rs_2101995228	2 SubmittersRCV001755248 RCV002272493
NM_001378452.1(ITPR1):c.7474G>A (p.Gly2492Ser)	SNV Germline	Chr3:4813147	Conflicting classifications of pathogenicity	Condition: not provided Spinocerebellar ataxia type 15/16 Gillespie syndrome Spinocerebellar ataxia type 29 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2232856	rs_187571979	4 SubmittersRCV001779687 RCV005023252 RCV004040796
NM_173500.4(TTBK2):c.322C>T (p.Gln108Ter)	SNV Germline	Chr15:42830048	Conflicting classifications of pathogenicity	Spinocerebellar ataxia type 11 Condition: not provided	Criteria Provided Conflicting Classifications	CA392052377	rs_2140986045	2 SubmittersRCV001783920 RCV004762179
NM_002739.5(PRKCG):c.220C>T (p.His74Tyr)	SNV Germline	Chr19:53884178	Likely pathogenic	Spinocerebellar ataxia type 14 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA407412656	rs_2122976509	2 SubmittersRCV001809070 RCV004571108
NM_001378969.1(KCND3):c.1648C>T (p.Arg550Cys)	SNV Germline	Chr1:111777144	Conflicting classifications of pathogenicity	Spinocerebellar ataxia type 19/22 Cardiovascular phenotype Condition: not provided	Criteria Provided Conflicting Classifications	CA1007378	rs_778141653	3 SubmittersRCV001922966 RCV004043343 RCV004762241
NM_001378452.1(ITPR1):c.1781C>T (p.Thr594Ile)	SNV Germline	Chr3:4667444	Pathogenic	Condition: not provided Spinocerebellar ataxia type 15/16	Criteria Provided Multiple Submitters No Conflicts	CA351643002	rs_2125201841	3 SubmittersRCV001889156 RCV005624173
NM_001378969.1(KCND3):c.1702C>T (p.Arg568Cys)	SNV Germline	Chr1:111777090	Conflicting classifications of pathogenicity	Spinocerebellar ataxia type 19/22 Cardiovascular phenotype Brugada syndrome 9 Spinocerebellar ataxia type 19/22 Condition: not provided	Criteria Provided Conflicting Classifications	CA1007370	rs_144120746	4 SubmittersRCV001982863 RCV002397991 RCV002479549 RCV005623459
NM_004977.3(KCNC3):c.1876G>C (p.Gly626Arg)	SNV Germline	Chr19:50323077	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Spinocerebellar ataxia type 13	Criteria Provided Conflicting Classifications	CA9594162	rs_368232448	4 SubmittersRCV002207929 RCV003161434 RCV003485761
NM_001378969.1(KCND3):c.1492T>C (p.Leu498=)	SNV Germline	Chr1:111778462	Conflicting classifications of pathogenicity	Spinocerebellar ataxia type 19/22 Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA1007417	rs_762528364	3 SubmittersRCV002139028 RCV002291799 RCV002391328
NM_001128164.2(ATXN1):c.772G>T (p.Gly258Cys)	SNV Germline	Chr6:16327539	Conflicting classifications of pathogenicity	Tip-toe gait Condition: not provided Spinocerebellar ataxia type 1	Criteria Provided Conflicting Classifications	CA3645491	rs_144962740	4 SubmittersRCV002225250 RCV003434454 RCV003485770
NM_001378969.1(KCND3):c.905G>C (p.Arg302Pro)	SNV Germline	Chr1:111981822	Likely pathogenic	Spinocerebellar ataxia type 19/22	Criteria Provided Single Submitter	CA341821097	rs_2101995572	1 SubmittersRCV002273033
NM_001378969.1(KCND3):c.911C>T (p.Ser304Phe)	SNV Germline	Chr1:111981816	Likely pathogenic	Spinocerebellar ataxia type 19/22	Criteria Provided Single Submitter	CA341821083	rs_2101995530	1 SubmittersRCV002273254
NM_001378452.1(ITPR1):c.7636G>A (p.Val2546Met)	SNV Germline	Chr3:4814497	Conflicting classifications of pathogenicity	Spinocerebellar ataxia type 15/16 Condition: not provided	Criteria Provided Conflicting Classifications	CA351649041	rs_2106492941	2 SubmittersRCV002274332 RCV002280210
NM_001378969.1(KCND3):c.1919C>T (p.Thr640Met)	SNV Germline	Chr1:111776126	Conflicting classifications of pathogenicity	Cardiovascular phenotype Spinocerebellar ataxia type 19/22 Condition: not provided	Criteria Provided Conflicting Classifications	CA1007315	rs_752589615	3 SubmittersRCV002410650 RCV003526190 RCV004763408
NM_001378969.1(KCND3):c.1372-4C>T	SNV Germline	Chr1:111780318	Conflicting classifications of pathogenicity	Cardiovascular phenotype Spinocerebellar ataxia type 19/22	Criteria Provided Conflicting Classifications	CA1007440	rs_747160429	2 SubmittersRCV002383724 RCV003095048
NM_001378969.1(KCND3):c.1696C>T (p.Arg566Cys)	SNV Germline	Chr1:111777096	Conflicting classifications of pathogenicity	Cardiovascular phenotype Spinocerebellar ataxia type 19/22 Condition: not provided	Criteria Provided Conflicting Classifications	CA1007372	rs_139901716	3 SubmittersRCV002406227 RCV003100793 RCV003482410
NM_001378969.1(KCND3):c.1920G>A (p.Thr640=)	SNV Germline	Chr1:111776125	Conflicting classifications of pathogenicity	Cardiovascular phenotype Condition: not provided Spinocerebellar ataxia type 19/22	Criteria Provided Conflicting Classifications	CA419529410	rs_1167459243	3 SubmittersRCV002410705 RCV002473381 RCV003097356
NM_001378452.1(ITPR1):c.7297G>A (p.Glu2433Lys)	SNV Germline	Chr3:4811289	Conflicting classifications of pathogenicity	Condition: not provided Spinocerebellar ataxia type 15/16	Criteria Provided Conflicting Classifications	CA351647508	rs_2470165746	3 SubmittersRCV003039076 RCV005627196
NM_001378969.1(KCND3):c.1138G>T (p.Gly380Trp)	SNV Unknown	Chr1:111787075	Likely pathogenic	Spinocerebellar ataxia type 19/22	Criteria Provided Single Submitter	CA341660924	rs_2525053501	1 SubmittersRCV003147966
NM_001378969.1(KCND3):c.1129A>G (p.Thr377Ala)	SNV Germline	Chr1:111787084	Likely pathogenic	Spinocerebellar ataxia type 19/22	Criteria Provided Single Submitter	CA341660958	rs_2525053579	1 SubmittersRCV003333268
NM_001378969.1(KCND3):c.848C>G (p.Ser283Cys)	SNV Germline	Chr1:111981879	Likely pathogenic	Spinocerebellar ataxia type 19/22	Criteria Provided Single Submitter	CA341821222	rs_2525699283	1 SubmittersRCV003388423
NM_182760.4(SUMF1):c.1046G>C (p.Arg349Pro)	SNV Germline	Chr3:4362223	Pathogenic/Likely pathogenic	Multiple sulfatase deficiency Spinocerebellar ataxia type 15/16	Criteria Provided Multiple Submitters No Conflicts	CA351626505	rs_137852847	2 SubmittersRCV003499920 RCV003992777
NM_001378452.1(ITPR1):c.773A>T (p.Lys258Met)	SNV Germline	Chr3:4645646	Likely pathogenic	Spinocerebellar ataxia type 15/16	No Assertion Criteria Provided			1 SubmittersRCV004767585
NM_002739.5(PRKCG):c.187G>C (p.Gly63Arg)	SNV Germline	Chr19:53883179	Likely pathogenic	Spinocerebellar ataxia type 14	No Assertion Criteria Provided			1 SubmittersRCV004767588
NM_002739.5(PRKCG):c.457G>C (p.Asp153His)	SNV Germline	Chr19:53889945	Likely pathogenic	Spinocerebellar ataxia type 14	No Assertion Criteria Provided			1 SubmittersRCV004767589
NM_001378452.1(ITPR1):c.7345A>G (p.Ile2449Val)	SNV Germline	Chr3:4811337	Likely pathogenic	Spinocerebellar ataxia type 15/16	Criteria Provided Single Submitter			1 SubmittersRCV004790064
NM_002739.5(PRKCG):c.220C>A (p.His74Asn)	SNV Germline	Chr19:53884178	Likely pathogenic	Spinocerebellar ataxia type 14	Criteria Provided Single Submitter			1 SubmittersRCV005028705
NM_001378969.1(KCND3):c.905G>A (p.Arg302His)	SNV Germline	Chr1:111981822	Likely pathogenic	Spinocerebellar ataxia type 19/22	Criteria Provided Single Submitter			1 SubmittersRCV005603964
NM_002739.5(PRKCG):c.402C>G (p.Cys134Trp)	SNV Germline	Chr19:53889890	Likely pathogenic	Spinocerebellar ataxia type 14	Criteria Provided Single Submitter			1 SubmittersRCV005625053

NM_002739.5(PRKCG):c.301C>T (p.His101Tyr)

SNV
Germline

Chr19:53889653

Pathogenic

Spinocerebellar ataxia type 14
Condition: not provided

Criteria Provided
Single Submitter

CA341257

rs_121918511

4 SubmittersRCV000014149 RCV001268861

NM_002739.5(PRKCG):c.355T>C (p.Ser119Pro)

SNV
Germline

Chr19:53889707

Pathogenic

Spinocerebellar ataxia type 14

Criteria Provided
Single Submitter

CA341259

rs_121918512

3 SubmittersRCV000014150

NM_002739.5(PRKCG):c.383G>A (p.Gly128Asp)

SNV
Germline

Chr19:53889735

Pathogenic

Spinocerebellar ataxia type 14
Condition: not provided

Criteria Provided
Single Submitter

CA341261

rs_121918513

3 SubmittersRCV000014151 RCV005252680

NM_002739.5(PRKCG):c.353G>A (p.Gly118Asp)

SNV
Germline

Chr19:53889705

Pathogenic

Spinocerebellar ataxia type 14
Condition: not provided

Criteria Provided
Single Submitter

CA341263

rs_121918514

6 SubmittersRCV000014152 RCV001698941

NM_002739.5(PRKCG):c.380A>G (p.Gln127Arg)

SNV
Germline

Chr19:53889732

Pathogenic

Spinocerebellar ataxia type 14
Condition: not provided

Criteria Provided
Single Submitter

CA341266

rs_121918515

3 SubmittersRCV000014153 RCV000517594

NM_002739.5(PRKCG):c.1927T>C (p.Phe643Leu)

SNV
Germline

Chr19:53906728

Pathogenic

Spinocerebellar ataxia type 14

No Assertion Criteria Provided

CA341269

rs_121918516

2 SubmittersRCV000014154

NM_002739.5(PRKCG):c.1081A>G (p.Ser361Gly)

SNV
Germline

Chr19:53898100

Likely pathogenic

Spinocerebellar ataxia type 14
Condition: not provided

Criteria Provided
Single Submitter

CA341272

rs_121918517

3 SubmittersRCV000014155 RCV001288717

NM_002739.5(PRKCG):c.303C>G (p.His101Gln)

SNV
Germline

Chr19:53889655

Pathogenic

Spinocerebellar ataxia type 14

No Assertion Criteria Provided

CA341275

rs_121918518

2 SubmittersRCV000014156

NM_004977.3(KCNC3):c.1259G>A (p.Arg420His)

SNV
Germline

Chr19:50323694

Pathogenic

Spinocerebellar ataxia type 13
Condition: not provided
Hereditary ataxia

Criteria Provided
Multiple Submitters
No Conflicts

CA256861

rs_104894699

13 SubmittersRCV000014415 RCV000992229 RCV005624688

NM_004977.3(KCNC3):c.1344C>A (p.Phe448Leu)

SNV
Germline

Chr19:50323609

Pathogenic

Spinocerebellar ataxia type 13

No Assertion Criteria Provided

CA256862

rs_104894700

1 SubmittersRCV000014416

NM_001378452.1(ITPR1):c.3248C>T (p.Pro1083Leu)

SNV
Germline

Chr3:4683472

Pathogenic

Spinocerebellar ataxia type 15/16

No Assertion Criteria Provided

CA341334

rs_121912425

2 SubmittersRCV000015924

NM_002739.5(PRKCG):c.1438G>T (p.Asp480Tyr)

SNV
Germline

Chr19:53900612

Pathogenic

Spinocerebellar ataxia type 14

No Assertion Criteria Provided

CA259672

rs_387906679

1 SubmittersRCV000022737

NM_001378452.1(ITPR1):c.4684G>A (p.Val1562Met)

SNV
Germline

Chr3:4706193

Pathogenic

Spinocerebellar ataxia type 29
Condition: not provided
Neurodevelopmental disorder
Inborn genetic diseases
Spinocerebellar ataxia type 15/16

Criteria Provided
Multiple Submitters
No Conflicts

CA261182

rs_397514535

11 SubmittersRCV000032771 RCV001091682 RCV003389037 RCV000624908 RCV004767027

NM_002739.5(PRKCG):c.1078G>A (p.Gly360Ser)

SNV
Unknown

Chr19:53898097

Pathogenic

Spinocerebellar ataxia type 14

No Assertion Criteria Provided

CA344584

rs_386134171

1 SubmittersRCV000034956

NM_002739.5(PRKCG):c.122G>C (p.Arg41Pro)

SNV
Germline

Chr19:53882616

Likely pathogenic

Spinocerebellar ataxia type 14
Condition: not provided

Criteria Provided
Single Submitter

CA344589

rs_386134158

2 SubmittersRCV000034959 RCV004700304

NM_002739.5(PRKCG):c.188G>T (p.Gly63Val)

SNV
Germline

Chr19:53883180

Likely pathogenic

Spinocerebellar ataxia type 14
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA344597

rs_386134159

3 SubmittersRCV000034967 RCV001818213

NM_002739.5(PRKCG):c.2075T>G (p.Val692Gly)

SNV
Germline

Chr19:53906876

Conflicting classifications of pathogenicity

Spinocerebellar ataxia type 14
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA344603

rs_78437096

3 SubmittersRCV000034972 RCV000766758 RCV000516815

NM_002739.5(PRKCG):c.229T>A (p.Cys77Ser)

SNV
Unknown

Chr19:53884187

Pathogenic

Spinocerebellar ataxia type 14

No Assertion Criteria Provided

CA344608

rs_386134160

1 SubmittersRCV000034975

NM_002739.5(PRKCG):c.341G>A (p.Cys114Tyr)

SNV
Unknown

Chr19:53889693

Pathogenic

Spinocerebellar ataxia type 14

No Assertion Criteria Provided

CA344621

rs_386134162

1 SubmittersRCV000034988

NM_002739.5(PRKCG):c.356C>T (p.Ser119Phe)

SNV
Unknown

Chr19:53889708

Pathogenic

Spinocerebellar ataxia type 14
Condition: not provided

Criteria Provided
Single Submitter

CA344624

rs_386134163

2 SubmittersRCV000034990 RCV000713005

NM_002739.5(PRKCG):c.367G>A (p.Gly123Arg)

SNV
Unknown

Chr19:53889719

Pathogenic

Spinocerebellar ataxia type 14

No Assertion Criteria Provided

CA344627

rs_386134164

1 SubmittersRCV000034991

NM_002739.5(PRKCG):c.368G>A (p.Gly123Glu)

SNV
Germline

Chr19:53889720

Likely pathogenic

Spinocerebellar ataxia type 14
Condition: not provided

Criteria Provided
Single Submitter

CA344630

rs_386134165

2 SubmittersRCV000034992 RCV003886368

NM_002739.5(PRKCG):c.391T>C (p.Cys131Arg)

SNV
Germline

Chr19:53889743

Likely pathogenic

Spinocerebellar ataxia type 14

Criteria Provided
Single Submitter

CA344633

rs_386134166

2 SubmittersRCV000034993

NM_002739.5(PRKCG):c.413T>A (p.Val138Glu)

SNV
Germline

Chr19:53889901

Pathogenic

Spinocerebellar ataxia type 14
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA344640

rs_386134168

3 SubmittersRCV000034996 RCV000992818

NM_002739.5(PRKCG):c.417C>A (p.His139Gln)

SNV
Unknown

Chr19:53889905

Pathogenic

Spinocerebellar ataxia type 14

No Assertion Criteria Provided

CA344646

rs_386134169

1 SubmittersRCV000034998

NM_001378969.1(KCND3):c.1054A>C (p.Thr352Pro)

SNV
Germline

Chr1:111981673

Pathogenic

Spinocerebellar ataxia type 19/22
Condition: not provided

Criteria Provided
Single Submitter

CA264792

rs_397515476

3 SubmittersRCV000056299 RCV001268855

NM_001378969.1(KCND3):c.1169G>A (p.Ser390Asn)

SNV
Germline

Chr1:111787044

Conflicting classifications of pathogenicity

Variant of unknown significance
Spinocerebellar ataxia type 19/22

No Assertion Criteria Provided

CA144862

rs_397515478

2 SubmittersRCV000056301 RCV001849175

NM_173500.4(TTBK2):c.3329G>A (p.Arg1110His)

SNV
Germline

Chr15:42746201

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Spinocerebellar ataxia type 11
TTBK2-related disorder

Criteria Provided
Conflicting Classifications

CA7516595

rs_146279300

5 SubmittersRCV000516940 RCV002054917 RCV001119904 RCV003905032

NM_001378969.1(KCND3):c.1348C>T (p.Leu450Phe)

SNV
Germline

Chr1:111780713

Conflicting classifications of pathogenicity

Brugada syndrome 9
Condition: not provided
Spinocerebellar ataxia type 19/22
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA200129

rs_150401343

11 SubmittersRCV000172842 RCV000415916 RCV000552635 RCV000618307 RCV002247580

NM_001378969.1(KCND3):c.1798G>A (p.Gly600Arg)

SNV
Germline

Chr1:111776247

Conflicting classifications of pathogenicity

Brugada syndrome 9
Condition: not provided
Cardiovascular phenotype
Spinocerebellar ataxia type 19/22
Brugada syndrome 9
Spinocerebellar ataxia type 19/22

Criteria Provided
Conflicting Classifications

CA052108

rs_149344567

7 SubmittersRCV000172843 RCV000712060 RCV000619002 RCV001370775 RCV002505242

NM_001378969.1(KCND3):c.1174G>A (p.Val392Ile)

SNV
Germline

Chr1:111787039

Pathogenic/Likely pathogenic

Brugada syndrome 9
Condition: not provided
Spinocerebellar ataxia type 19/22

Criteria Provided
Multiple Submitters
No Conflicts

CA200132

rs_786205867

6 SubmittersRCV000172844 RCV000444260 RCV000460804

NM_001378452.1(ITPR1):c.800C>T (p.Thr267Met)

SNV
Germline

Chr3:4645673

Pathogenic

Inborn genetic diseases
Spinocerebellar ataxia type 29
Condition: not provided
Spinocerebellar ataxia type 15/16

Criteria Provided
Multiple Submitters
No Conflicts

CA204907

rs_797044955

11 SubmittersRCV000190812 RCV000677366 RCV001552791 RCV003152595

NM_004977.3(KCNC3):c.1268G>A (p.Arg423His)

SNV
Germline

Chr19:50323685

Pathogenic

Inborn genetic diseases
Condition: not provided
Spinocerebellar ataxia type 13

Criteria Provided
Multiple Submitters
No Conflicts

CA204646

rs_797044872

21 SubmittersRCV000190682 RCV000277864 RCV000613729

NM_001378969.1(KCND3):c.1034G>T (p.Gly345Val)

SNV
Germline

Chr1:111981693

Pathogenic

Spinocerebellar ataxia type 19/22

Criteria Provided
Single Submitter

CA277344

rs_797045634

1 SubmittersRCV000194577

NM_001128164.2(ATXN1):c.621G>T (p.Gln207His)

SNV
Germline

Chr6:16327690

Conflicting classifications of pathogenicity

not specified
Spinocerebellar ataxia type 1

Criteria Provided
Conflicting Classifications

CA207267

rs_201030692

2 SubmittersRCV000193645 RCV001262838

NM_002739.5(PRKCG):c.154T>A (p.Cys52Ser)

SNV
Germline

Chr19:53882648

Likely pathogenic

Spinocerebellar ataxia type 14

Criteria Provided
Single Submitter

CA277394

rs_797045900

1 SubmittersRCV000194843

NM_001378969.1(KCND3):c.641A>G (p.Lys214Arg)

SNV
Germline

Chr1:111982086

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
KCND3-related disorder
Spinocerebellar ataxia type 19/22
Condition: not provided

Criteria Provided
Conflicting Classifications

CA354891

rs_142744204

10 SubmittersRCV000208485 RCV000249346 RCV004737334 RCV000558965 RCV001555788

NM_001378452.1(ITPR1):c.7784G>A (p.Gly2595Glu)

SNV
Germline

Chr3:4815135

Pathogenic

Spinocerebellar ataxia type 15/16
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA353411

rs_869312685

3 SubmittersRCV000209834 RCV001310467

NM_004977.3(KCNC3):c.1283C>T (p.Thr428Ile)

SNV
Germline

Chr19:50323670

Pathogenic

Spinocerebellar ataxia type 13

No Assertion Criteria Provided

CA10584651

rs_879253883

1 SubmittersRCV000235759

NM_001378969.1(KCND3):c.1646G>A (p.Arg549His)

SNV
Germline

Chr1:111777146

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Spinocerebellar ataxia type 19/22
not specified

Criteria Provided
Conflicting Classifications

CA1007379

rs_35027371

5 SubmittersRCV000243000 RCV000696815 RCV004999188

NM_001378452.1(ITPR1):c.805C>T (p.Arg269Trp)

SNV
Germline

Chr3:4645678

Pathogenic/Likely pathogenic

Condition: not provided
Inborn genetic diseases
Spinocerebellar ataxia type 29
Gillespie syndrome
Spinocerebellar ataxia type 29
Spinocerebellar ataxia type 15/16
Gillespie syndrome
Neurodevelopmental disorder
Spinocerebellar ataxia type 15/16

Criteria Provided
Multiple Submitters
No Conflicts

CA10588363

rs_886039392

19 SubmittersRCV000254736 RCV000623132 RCV000677359 RCV000850563 RCV000995787 RCV002278250 RCV003335291

NM_001378452.1(ITPR1):c.2732C>T (p.Ala911Val)

SNV
Germline

Chr3:4675201

Conflicting classifications of pathogenicity

Autosomal dominant cerebellar ataxia
Spinocerebellar ataxia type 29
Condition: not provided
Inborn genetic diseases
Gillespie syndrome
Spinocerebellar ataxia type 29
Spinocerebellar ataxia type 15/16

Criteria Provided
Conflicting Classifications

CA2231486

rs_201519806

8 SubmittersRCV000377614 RCV000677361 RCV001598658 RCV002523265 RCV005398472

NM_173500.4(TTBK2):c.3543G>A (p.Ser1181=)

SNV
Germline

Chr15:42745987

Conflicting classifications of pathogenicity

Condition: not provided
Spinocerebellar ataxia type 11
not specified

Criteria Provided
Conflicting Classifications

CA7516551

rs_199635198

4 SubmittersRCV000415817 RCV000337906 RCV001660650

NM_173500.4(TTBK2):c.3185C>T (p.Thr1062Ile)

SNV
Germline

Chr15:42752061

Conflicting classifications of pathogenicity

Spinocerebellar ataxia type 11
Condition: not provided
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7516634

rs_55833708

7 SubmittersRCV000303717 RCV000903326 RCV001289303 RCV002522786

NM_173500.4(TTBK2):c.3331C>G (p.Leu1111Val)

SNV
Germline

Chr15:42746199

Conflicting classifications of pathogenicity

Spinocerebellar ataxia type 11
Condition: not provided
not specified
TTBK2-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7516594

rs_144199562

5 SubmittersRCV000341289 RCV000925780 RCV001289306 RCV003957636 RCV002522352

NM_173500.4(TTBK2):c.*1153G>A

SNV
Germline

Chr15:42744642

Conflicting classifications of pathogenicity

Spinocerebellar ataxia type 11
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10645955

rs_781080005

2 SubmittersRCV000353255 RCV003401328

NM_173500.4(TTBK2):c.3418C>T (p.Pro1140Ser)

SNV
Germline

Chr15:42746112

Conflicting classifications of pathogenicity

Spinocerebellar ataxia type 11
Condition: not provided
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA7516580

rs_576737530

4 SubmittersRCV000298038 RCV001289307 RCV002520956 RCV004999308

NM_173500.4(TTBK2):c.2210T>C (p.Ile737Thr)

SNV
Germline

Chr15:42753036

Conflicting classifications of pathogenicity

Spinocerebellar ataxia type 11
Condition: not provided
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7516766

rs_146515654

5 SubmittersRCV000318500 RCV000960691 RCV001288858 RCV004021632

NM_173500.4(TTBK2):c.2278C>T (p.Pro760Ser)

SNV
Germline

Chr15:42752968

Conflicting classifications of pathogenicity

Spinocerebellar ataxia type 11
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7516758

rs_117382379

3 SubmittersRCV000275220 RCV002522788 RCV003105867

NM_173500.4(TTBK2):c.1555G>C (p.Ala519Pro)

SNV
Germline

Chr15:42775578

Conflicting classifications of pathogenicity

Spinocerebellar ataxia type 11
Condition: not provided
Inborn genetic diseases
TTBK2-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA7516869

rs_200124857

6 SubmittersRCV000379173 RCV000658708 RCV002522789 RCV003969883 RCV000518308

NM_173500.4(TTBK2):c.595C>T (p.Arg199Trp)

SNV
Germline

Chr15:42817040

Conflicting classifications of pathogenicity

Spinocerebellar ataxia type 11
Spastic ataxia
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7517435

rs_200125366

6 SubmittersRCV000400925 RCV001642984 RCV001357218 RCV002522790

NM_002739.5(PRKCG):c.1730C>T (p.Ser577Leu)

SNV
Germline

Chr19:53904708

Conflicting classifications of pathogenicity

Spinocerebellar ataxia type 14
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9640685

rs_551805527

4 SubmittersRCV000318440 RCV002521249 RCV005243199

NM_001378969.1(KCND3):c.5C>A (p.Ala2Glu)

SNV
Germline

Chr1:111982722

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Condition: not provided
Spinocerebellar ataxia type 19/22

Criteria Provided
Conflicting Classifications

CA1007663

rs_201340369

7 SubmittersRCV000413117 RCV000618676 RCV000845314 RCV001080205

NM_001378969.1(KCND3):c.1153T>C (p.Ser385Pro)

SNV
Germline

Chr1:111787060

Pathogenic

Spinocerebellar ataxia type 19/22
Condition: not provided

Criteria Provided
Single Submitter

CA16044213

rs_1057519453

2 SubmittersRCV000416456 RCV004719810

NM_001378969.1(KCND3):c.1111G>A (p.Gly371Arg)

SNV
Germline

Chr1:111787102

Conflicting classifications of pathogenicity

Condition: not provided
Spinocerebellar ataxia type 19/22
Brugada syndrome 9
Neurodevelopmental delay

Criteria Provided
Conflicting Classifications

CA16603398

rs_1057521793

7 SubmittersRCV000430266 RCV000757925 RCV002255097 RCV003223405

NM_001378969.1(KCND3):c.1456A>G (p.Thr486Ala)

SNV
Germline

Chr1:111780230

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Spinocerebellar ataxia type 19/22
Cardiovascular phenotype
KCND3-related disorder

Criteria Provided
Conflicting Classifications

CA1007433

rs_149008060

7 SubmittersRCV000482547 RCV000786333 RCV001079066 RCV002393199 RCV004551555

NM_173500.4(TTBK2):c.3722A>C (p.Lys1241Thr)

SNV
Germline

Chr15:42745808

Conflicting classifications of pathogenicity

Spinocerebellar ataxia type 11
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7516505

rs_36104367

4 SubmittersRCV000765208 RCV000488259

NM_001378969.1(KCND3):c.1370C>T (p.Thr457Met)

SNV
Germline

Chr1:111780691

Conflicting classifications of pathogenicity

Condition: not provided
Brugada syndrome 9
Brugada syndrome 9
Spinocerebellar ataxia type 19/22
Spinocerebellar ataxia type 19/22
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1007457

rs_199637120

5 SubmittersRCV000498826 RCV000505597 RCV002481586 RCV001857017 RCV003302733

NM_002739.5(PRKCG):c.197G>A (p.Cys66Tyr)

SNV
Germline

Chr19:53883189

Likely pathogenic

Spinocerebellar ataxia type 14

Criteria Provided
Single Submitter

CA407412474

rs_1555806333

2 SubmittersRCV000501395

NM_173500.4(TTBK2):c.1274G>A (p.Arg425His)

SNV
Germline

Chr15:42777166

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Spinocerebellar ataxia type 11

Criteria Provided
Conflicting Classifications

CA7516922

rs_370495535

5 SubmittersRCV001644620 RCV002525100 RCV005398742

NM_001378452.1(ITPR1):c.736G>A (p.Glu246Lys)

SNV
Germline

Chr3:4645609

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Spinocerebellar ataxia type 29
Gillespie syndrome
Spinocerebellar ataxia type 29
Spinocerebellar ataxia type 15/16

Criteria Provided
Conflicting Classifications

CA351636431

rs_1553666546

5 SubmittersRCV000519089 RCV000624199 RCV000677367 RCV005027620

NM_001378969.1(KCND3):c.1519-5C>T

SNV
Germline

Chr1:111777278

Conflicting classifications of pathogenicity

Spinocerebellar ataxia type 19/22
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1007395

rs_376408039

2 SubmittersRCV001488862 RCV002395385

NM_001105206.3(LAMA4):c.3742A>G (p.Ile1248Val)

SNV
Germline

Chr6:112132845

Conflicting classifications of pathogenicity

Familial atrial fibrillation
Brugada syndrome 9
Primary dilated cardiomyopathy
Spinocerebellar ataxia type 19/22
Dilated cardiomyopathy 1JJ
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA3965136

rs_547323858

3 SubmittersRCV000578048 RCV000578098 RCV000578116 RCV000577985 RCV000578042 RCV000951026 RCV003159972

NM_001378969.1(KCND3):c.186G>A (p.Pro62=)

SNV
Germline

Chr1:111982541

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Spinocerebellar ataxia type 19/22

Criteria Provided
Conflicting Classifications

CA419708374

rs_1411627342

4 SubmittersRCV000994072 RCV000621298 RCV002529394

NM_002739.5(PRKCG):c.1747G>A (p.Val583Met)

SNV
Germline

Chr19:53904725

Conflicting classifications of pathogenicity

Spinocerebellar ataxia type 14
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9640689

rs_143513754

5 SubmittersRCV000600767 RCV001288723

NM_001378969.1(KCND3):c.1756C>G (p.Leu586Val)

SNV
Germline

Chr1:111777036

Conflicting classifications of pathogenicity

Brugada syndrome 9
Cardiovascular phenotype
Spinocerebellar ataxia type 19/22
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1007361

rs_778053688

4 SubmittersRCV000678953 RCV000621723 RCV000801665 RCV005000387

NM_001378969.1(KCND3):c.1292G>A (p.Arg431His)

SNV
Germline

Chr1:111780769

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
Spinocerebellar ataxia type 19/22
Brugada syndrome 9

Criteria Provided
Conflicting Classifications

CA1007474

rs_771703569

5 SubmittersRCV000619969 RCV000992219 RCV001226501 RCV003338690

NM_001378969.1(KCND3):c.626C>T (p.Thr209Met)

SNV
Germline

Chr1:111982101

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
Spinocerebellar ataxia type 19/22

Criteria Provided
Conflicting Classifications

CA1007580

rs_771878661

3 SubmittersRCV000617249 RCV003129942 RCV005091773

NM_001378452.1(ITPR1):c.7648G>A (p.Gly2550Arg)

SNV
Germline

Chr3:4814509

Conflicting classifications of pathogenicity

Inborn genetic diseases
Condition: not provided
Spinocerebellar ataxia type 29
Gillespie syndrome
Spinocerebellar ataxia type 15/16
Spinocerebellar ataxia type 29

Criteria Provided
Conflicting Classifications

CA351649065

rs_1553757628

6 SubmittersRCV000622722 RCV000992210 RCV001542743 RCV000764511

NM_001378969.1(KCND3):c.1703G>A (p.Arg568His)

SNV
Germline

Chr1:111777089

Conflicting classifications of pathogenicity

Spinocerebellar ataxia type 19/22
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1007369

rs_200212002

3 SubmittersRCV000640964 RCV001563036 RCV002397224

NM_001378452.1(ITPR1):c.4333G>A (p.Val1445Met)

SNV
Germline

Chr3:4697198

Likely pathogenic

Spinocerebellar ataxia type 15/16
Spinocerebellar ataxia type 29
Gillespie syndrome
ITPR1-related disorders
Spinocerebellar ataxia type 29

Criteria Provided
Multiple Submitters
No Conflicts

CA351632360

rs_1559718601

3 SubmittersRCV002311994 RCV005250102 RCV002268270

NM_001378969.1(KCND3):c.1769G>A (p.Arg590His)

SNV
Germline

Chr1:111776276

Conflicting classifications of pathogenicity

Condition: not provided
Spinocerebellar ataxia type 19/22
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1007340

rs_186194682

4 SubmittersRCV000712058 RCV001233302 RCV003303204

NM_181675.4(PPP2R2B):c.707A>G (p.Asn236Ser)

SNV
Germline

Chr5:146638334

Conflicting classifications of pathogenicity

Condition: not provided
Spinocerebellar ataxia type 12

Criteria Provided
Conflicting Classifications

CA3492666

rs_150981315

2 SubmittersRCV000762169 RCV005392359

NM_001378969.1(KCND3):c.1130C>T (p.Thr377Met)

SNV
Germline

Chr1:111787083

Pathogenic

Spinocerebellar ataxia type 19/22
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA341660948

rs_1571636501

7 SubmittersRCV000853621 RCV001268117

NM_001378969.1(KCND3):c.1123C>T (p.Pro375Ser)

SNV
Germline

Chr1:111787090

Pathogenic

Spinocerebellar ataxia type 19/22

Criteria Provided
Single Submitter

CA341660982

rs_1571636508

1 SubmittersRCV000853620

NM_001378969.1(KCND3):c.1013T>A (p.Val338Glu)

SNV
Germline

Chr1:111981714

Pathogenic

Spinocerebellar ataxia type 19/22

Criteria Provided
Single Submitter

CA341820797

rs_1571939827

1 SubmittersRCV000853619

NM_001378969.1(KCND3):c.950G>A (p.Cys317Tyr)

SNV
Germline

Chr1:111981777

Pathogenic

Spinocerebellar ataxia type 19/22

Criteria Provided
Single Submitter

CA341821002

rs_1571939905

1 SubmittersRCV000853618

NM_002739.5(PRKCG):c.230G>A (p.Cys77Tyr)

SNV
Germline

Chr19:53884188

Conflicting classifications of pathogenicity

Spinocerebellar ataxia type 14
Condition: not provided

Criteria Provided
Conflicting Classifications

CA407412691

rs_1599938631

3 SubmittersRCV000991052 RCV000992815

NM_002739.5(PRKCG):c.367G>C (p.Gly123Arg)

SNV
Unknown

Chr19:53889719

Conflicting classifications of pathogenicity

Spinocerebellar ataxia type 14
Condition: not provided

Criteria Provided
Conflicting Classifications

CA407414256

rs_386134164

2 SubmittersRCV000991053 RCV001288726

NM_002739.5(PRKCG):c.379C>A (p.Gln127Lys)

SNV
Germline

Chr19:53889731

Likely pathogenic

Spinocerebellar ataxia type 14
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA407414280

rs_1599943097

2 SubmittersRCV000991047 RCV003480895

NM_001378452.1(ITPR1):c.4421C>T (p.Thr1474Ile)

SNV
Germline

Chr3:4699826

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant cerebellar ataxia
Spinocerebellar ataxia type 15/16
Intellectual disability
Inborn genetic diseases
not specified
ITPR1-related disorder

Criteria Provided
Conflicting Classifications

CA2231990

rs_188558398

10 SubmittersRCV000992197 RCV001147931 RCV001262674 RCV001251784 RCV002549783 RCV005056723 RCV003943298

NM_173500.4(TTBK2):c.1100A>T (p.Lys367Ile)

SNV
Germline

Chr15:42783516

Conflicting classifications of pathogenicity

Condition: not provided
Spinocerebellar ataxia type 11

Criteria Provided
Conflicting Classifications

CA7516970

rs_764753481

3 SubmittersRCV000993244 RCV001118473

NM_001378969.1(KCND3):c.1070C>T (p.Ser357Leu)

SNV
Germline

Chr1:111981657

Conflicting classifications of pathogenicity

Spinocerebellar ataxia type 19/22
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA29326273

rs_867628133

3 SubmittersRCV001027678 RCV003307800

NM_173500.4(TTBK2):c.1499G>T (p.Arg500Leu)

SNV
Germline

Chr15:42775634

Conflicting classifications of pathogenicity

Spinocerebellar ataxia type 11
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7516878

rs_56039839

2 SubmittersRCV001115318 RCV002556262

NM_002739.5(PRKCG):c.940-3C>T

SNV
Germline

Chr19:53897956

Conflicting classifications of pathogenicity

Spinocerebellar ataxia type 14
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9640482

rs_377593245

2 SubmittersRCV001131453 RCV005243476

NM_001378452.1(ITPR1):c.256G>A (p.Ala86Thr)

SNV
Germline

Chr3:4627855

Conflicting classifications of pathogenicity

Autosomal dominant cerebellar ataxia
Spinocerebellar ataxia type 15/16
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2230834

rs_767787371

5 SubmittersRCV001145472 RCV004789406 RCV003142080

NM_002739.5(PRKCG):c.302A>G (p.His101Arg)

SNV
Germline

Chr19:53889654

Likely pathogenic

Spinocerebellar ataxia type 14

No Assertion Criteria Provided

CA407414110

rs_2068656783

2 SubmittersRCV001175615

NM_001128164.2(ATXN1):c.609G>T (p.Gln203His)

SNV
Germline

Chr6:16327702

Conflicting classifications of pathogenicity

Spinocerebellar ataxia type 1
Inborn genetic diseases
ATXN1-related disorder

Criteria Provided
Conflicting Classifications

CA3645584

rs_199744696

3 SubmittersRCV001198089 RCV002559262 RCV003908443

NM_001378969.1(KCND3):c.1889G>A (p.Arg630Gln)

SNV
Germline

Chr1:111776156

Conflicting classifications of pathogenicity

Spinocerebellar ataxia type 19/22
Cardiovascular phenotype
not specified
Condition: not provided
Brugada syndrome 9
Spinocerebellar ataxia type 19/22

Criteria Provided
Conflicting Classifications

CA1007323

rs_774713377

5 SubmittersRCV001203107 RCV002411741 RCV004768909 RCV003148945 RCV002504232

NM_001378969.1(KCND3):c.869G>A (p.Arg290Gln)

SNV
Germline

Chr1:111981858

Likely pathogenic

Spinocerebellar ataxia type 19/22
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA341821180

rs_1674966041

2 SubmittersRCV001253322 RCV002462885

NM_004977.3(KCNC3):c.1223A>G (p.Asp408Gly)

SNV
Germline

Chr19:50323730

Likely pathogenic

Spinocerebellar ataxia type 13

Criteria Provided
Single Submitter

CA406952153

rs_2037067131

1 SubmittersRCV001253200

NM_001378969.1(KCND3):c.1649G>A (p.Arg550His)

SNV
Germline

Chr1:111777143

Conflicting classifications of pathogenicity

Condition: not provided
Spinocerebellar ataxia type 19/22
Brugada syndrome 9
Spinocerebellar ataxia type 19/22
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1007377

rs_151164490

4 SubmittersRCV001289015 RCV001871726 RCV002493522 RCV002393688

NM_001378969.1(KCND3):c.1150G>A (p.Gly384Ser)

SNV
Germline

Chr1:111787063

Pathogenic/Likely pathogenic

Condition: not provided
Cardiovascular phenotype
Spinocerebellar ataxia type 19/22
Hereditary ataxia

Criteria Provided
Multiple Submitters
No Conflicts

CA341660870

rs_1664632655

6 SubmittersRCV001289013 RCV004629532 RCV003389334 RCV005626384

NM_001378969.1(KCND3):c.611C>T (p.Thr204Met)

SNV
Germline

Chr1:111982116

Conflicting classifications of pathogenicity

Spinocerebellar ataxia type 19/22
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA341821746

rs_2101997230

2 SubmittersRCV001647138 RCV002357167

NM_173500.4(TTBK2):c.239T>A (p.Phe80Tyr)

SNV
Unknown

Chr15:42840412

Likely pathogenic

Spinocerebellar ataxia type 11

Criteria Provided
Single Submitter

CA7517532

rs_778218227

1 SubmittersRCV001647210

NM_002739.5(PRKCG):c.358C>T (p.Leu120Phe)

SNV
Germline

Chr19:53889710

Likely pathogenic

Spinocerebellar ataxia type 14

Criteria Provided
Multiple Submitters
No Conflicts

CA407414239

rs_2122988567

2 SubmittersRCV001647199

NM_002739.5(PRKCG):c.380A>C (p.Gln127Pro)

SNV
Unknown

Chr19:53889732

Likely pathogenic

Spinocerebellar ataxia type 14

Criteria Provided
Single Submitter

CA407414283

rs_121918515

1 SubmittersRCV001647231

NM_002739.5(PRKCG):c.419G>A (p.Arg140Gln)

SNV
Germline

Chr19:53889907

Conflicting classifications of pathogenicity

Spinocerebellar ataxia type 14
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9640292

rs_770016586

3 SubmittersRCV001647232 RCV004998829

NM_002739.5(PRKCG):c.466G>A (p.Glu156Lys)

SNV
Germline

Chr19:53889954

Conflicting classifications of pathogenicity

Spinocerebellar ataxia type 14
Condition: not provided

Criteria Provided
Conflicting Classifications

CA407414483

rs_1304701232

3 SubmittersRCV001647202 RCV001664829

NM_002739.5(PRKCG):c.1308C>G (p.Tyr436Ter)

SNV
Germline

Chr19:53900259

Pathogenic

Spinocerebellar ataxia type 14

Criteria Provided
Single Submitter

CA407418278

rs_955612922

1 SubmittersRCV001647203

NM_002739.5(PRKCG):c.1381G>A (p.Ala461Thr)

SNV
Unknown

Chr19:53900426

Likely pathogenic

Spinocerebellar ataxia type 14

Criteria Provided
Single Submitter

CA9640595

rs_749266717

1 SubmittersRCV001647201

NM_002739.5(PRKCG):c.1928T>G (p.Phe643Cys)

SNV
Unknown

Chr19:53906729

Likely pathogenic

Spinocerebellar ataxia type 14

Criteria Provided
Single Submitter

CA407420356

rs_386134172

1 SubmittersRCV001647200

NM_002739.5(PRKCG):c.323A>G (p.Tyr108Cys)

SNV
Germline

Chr19:53889675

Likely pathogenic

Spinocerebellar ataxia type 14

No Assertion Criteria Provided

CA407414159

rs_2122988484

2 SubmittersRCV001542611

NM_002739.5(PRKCG):c.381G>T (p.Gln127His)

SNV
Germline

Chr19:53889733

Likely pathogenic

Spinocerebellar ataxia type 14

No Assertion Criteria Provided

CA407414286

rs_973767996

1 SubmittersRCV001542612

NM_002739.5(PRKCG):c.394T>C (p.Ser132Pro)

SNV
Germline

Chr19:53889746

Likely pathogenic

Spinocerebellar ataxia type 14

No Assertion Criteria Provided

CA407414314

rs_2122988688

1 SubmittersRCV001542613

NM_001378452.1(ITPR1):c.748T>C (p.Phe250Leu)

SNV
Germline

Chr3:4645621

Pathogenic/Likely pathogenic

Spinocerebellar ataxia type 15/16
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA351636523

rs_2125159710

2 SubmittersRCV001729945 RCV001545840

NM_001378969.1(KCND3):c.1314G>A (p.Ser438=)

SNV
Germline

Chr1:111780747

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Spinocerebellar ataxia type 19/22

Criteria Provided
Conflicting Classifications

CA419529832

rs_1247179970

3 SubmittersRCV001663479 RCV003163786 RCV003640983

NM_002739.5(PRKCG):c.107A>G (p.His36Arg)

SNV
Unknown

Chr19:53882601

Pathogenic

Spinocerebellar ataxia type 14

No Assertion Criteria Provided

CA407412035

rs_2122973105

1 SubmittersRCV001849199

NM_173500.4(TTBK2):c.3466C>T (p.Arg1156Ter)

SNV
Germline

Chr15:42746064

Likely pathogenic

Spinocerebellar ataxia type 11

No Assertion Criteria Provided

CA7516570

rs_770444240

1 SubmittersRCV001849234

NM_001378452.1(ITPR1):c.1516C>T (p.Arg506Trp)

SNV
Unknown

Chr3:4663168

Likely pathogenic

Spinocerebellar ataxia type 15/16

Criteria Provided
Single Submitter

CA351641466

rs_2093873570

1 SubmittersRCV001733872

NM_001378969.1(KCND3):c.983T>G (p.Leu328Arg)

SNV
Germline

Chr1:111981744

Conflicting classifications of pathogenicity

Condition: not provided
Spinocerebellar ataxia type 19/22

Criteria Provided
Conflicting Classifications

CA341820927

rs_2101995228

2 SubmittersRCV001755248 RCV002272493

NM_001378452.1(ITPR1):c.7474G>A (p.Gly2492Ser)

SNV
Germline

Chr3:4813147

Conflicting classifications of pathogenicity

Condition: not provided
Spinocerebellar ataxia type 15/16
Gillespie syndrome
Spinocerebellar ataxia type 29
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2232856

rs_187571979

4 SubmittersRCV001779687 RCV005023252 RCV004040796

NM_173500.4(TTBK2):c.322C>T (p.Gln108Ter)

SNV
Germline

Chr15:42830048

Conflicting classifications of pathogenicity

Spinocerebellar ataxia type 11
Condition: not provided

Criteria Provided
Conflicting Classifications

CA392052377

rs_2140986045

2 SubmittersRCV001783920 RCV004762179

NM_002739.5(PRKCG):c.220C>T (p.His74Tyr)

SNV
Germline

Chr19:53884178

Likely pathogenic

Spinocerebellar ataxia type 14
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA407412656

rs_2122976509

2 SubmittersRCV001809070 RCV004571108

NM_001378969.1(KCND3):c.1648C>T (p.Arg550Cys)

SNV
Germline

Chr1:111777144

Conflicting classifications of pathogenicity

Spinocerebellar ataxia type 19/22
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1007378

rs_778141653

3 SubmittersRCV001922966 RCV004043343 RCV004762241

NM_001378452.1(ITPR1):c.1781C>T (p.Thr594Ile)

SNV
Germline

Chr3:4667444

Pathogenic

Condition: not provided
Spinocerebellar ataxia type 15/16

Criteria Provided
Multiple Submitters
No Conflicts

CA351643002

rs_2125201841

3 SubmittersRCV001889156 RCV005624173

NM_001378969.1(KCND3):c.1702C>T (p.Arg568Cys)

SNV
Germline

Chr1:111777090

Conflicting classifications of pathogenicity

Spinocerebellar ataxia type 19/22
Cardiovascular phenotype
Brugada syndrome 9
Spinocerebellar ataxia type 19/22
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1007370

rs_144120746

4 SubmittersRCV001982863 RCV002397991 RCV002479549 RCV005623459

NM_004977.3(KCNC3):c.1876G>C (p.Gly626Arg)

SNV
Germline

Chr19:50323077

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Spinocerebellar ataxia type 13

Criteria Provided
Conflicting Classifications

CA9594162

rs_368232448

4 SubmittersRCV002207929 RCV003161434 RCV003485761

NM_001378969.1(KCND3):c.1492T>C (p.Leu498=)

SNV
Germline

Chr1:111778462

Conflicting classifications of pathogenicity

Spinocerebellar ataxia type 19/22
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1007417

rs_762528364

3 SubmittersRCV002139028 RCV002291799 RCV002391328

NM_001128164.2(ATXN1):c.772G>T (p.Gly258Cys)

SNV
Germline

Chr6:16327539

Conflicting classifications of pathogenicity

Tip-toe gait
Condition: not provided
Spinocerebellar ataxia type 1

Criteria Provided
Conflicting Classifications

CA3645491

rs_144962740

4 SubmittersRCV002225250 RCV003434454 RCV003485770

NM_001378969.1(KCND3):c.905G>C (p.Arg302Pro)

SNV
Germline

Chr1:111981822

Likely pathogenic

Spinocerebellar ataxia type 19/22

Criteria Provided
Single Submitter

CA341821097

rs_2101995572

1 SubmittersRCV002273033

NM_001378969.1(KCND3):c.911C>T (p.Ser304Phe)

SNV
Germline

Chr1:111981816

Likely pathogenic

Spinocerebellar ataxia type 19/22

Criteria Provided
Single Submitter

CA341821083

rs_2101995530

1 SubmittersRCV002273254

NM_001378452.1(ITPR1):c.7636G>A (p.Val2546Met)

SNV
Germline

Chr3:4814497

Conflicting classifications of pathogenicity

Spinocerebellar ataxia type 15/16
Condition: not provided

Criteria Provided
Conflicting Classifications

CA351649041

rs_2106492941

2 SubmittersRCV002274332 RCV002280210

NM_001378969.1(KCND3):c.1919C>T (p.Thr640Met)

SNV
Germline

Chr1:111776126

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Spinocerebellar ataxia type 19/22
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1007315

rs_752589615

3 SubmittersRCV002410650 RCV003526190 RCV004763408

NM_001378969.1(KCND3):c.1372-4C>T

SNV
Germline

Chr1:111780318

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Spinocerebellar ataxia type 19/22

Criteria Provided
Conflicting Classifications

CA1007440

rs_747160429

2 SubmittersRCV002383724 RCV003095048

NM_001378969.1(KCND3):c.1696C>T (p.Arg566Cys)

SNV
Germline

Chr1:111777096

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Spinocerebellar ataxia type 19/22
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1007372

rs_139901716

3 SubmittersRCV002406227 RCV003100793 RCV003482410

NM_001378969.1(KCND3):c.1920G>A (p.Thr640=)

SNV
Germline

Chr1:111776125

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
Spinocerebellar ataxia type 19/22

Criteria Provided
Conflicting Classifications

CA419529410

rs_1167459243

3 SubmittersRCV002410705 RCV002473381 RCV003097356

NM_001378452.1(ITPR1):c.7297G>A (p.Glu2433Lys)

SNV
Germline

Chr3:4811289

Conflicting classifications of pathogenicity

Condition: not provided
Spinocerebellar ataxia type 15/16

Criteria Provided
Conflicting Classifications

CA351647508

rs_2470165746

3 SubmittersRCV003039076 RCV005627196

NM_001378969.1(KCND3):c.1138G>T (p.Gly380Trp)

SNV
Unknown

Chr1:111787075

Likely pathogenic

Spinocerebellar ataxia type 19/22

Criteria Provided
Single Submitter

CA341660924

rs_2525053501

1 SubmittersRCV003147966

NM_001378969.1(KCND3):c.1129A>G (p.Thr377Ala)

SNV
Germline

Chr1:111787084

Likely pathogenic

Spinocerebellar ataxia type 19/22

Criteria Provided
Single Submitter

CA341660958

rs_2525053579

1 SubmittersRCV003333268

NM_001378969.1(KCND3):c.848C>G (p.Ser283Cys)

SNV
Germline

Chr1:111981879

Likely pathogenic

Spinocerebellar ataxia type 19/22

Criteria Provided
Single Submitter

CA341821222

rs_2525699283

1 SubmittersRCV003388423

NM_182760.4(SUMF1):c.1046G>C (p.Arg349Pro)

SNV
Germline

Chr3:4362223

Pathogenic/Likely pathogenic

Multiple sulfatase deficiency
Spinocerebellar ataxia type 15/16

Criteria Provided
Multiple Submitters
No Conflicts

CA351626505

rs_137852847

2 SubmittersRCV003499920 RCV003992777

NM_001378452.1(ITPR1):c.773A>T (p.Lys258Met)

SNV
Germline

Chr3:4645646

Likely pathogenic

Spinocerebellar ataxia type 15/16

No Assertion Criteria Provided

1 SubmittersRCV004767585

NM_002739.5(PRKCG):c.187G>C (p.Gly63Arg)

SNV
Germline

Chr19:53883179

Likely pathogenic

Spinocerebellar ataxia type 14

No Assertion Criteria Provided

1 SubmittersRCV004767588

NM_002739.5(PRKCG):c.457G>C (p.Asp153His)

SNV
Germline

Chr19:53889945

Likely pathogenic

Spinocerebellar ataxia type 14

No Assertion Criteria Provided

1 SubmittersRCV004767589

NM_001378452.1(ITPR1):c.7345A>G (p.Ile2449Val)

SNV
Germline

Chr3:4811337

Likely pathogenic

Spinocerebellar ataxia type 15/16

Criteria Provided
Single Submitter

1 SubmittersRCV004790064

NM_002739.5(PRKCG):c.220C>A (p.His74Asn)

SNV
Germline

Chr19:53884178

Likely pathogenic

Spinocerebellar ataxia type 14

Criteria Provided
Single Submitter

1 SubmittersRCV005028705

NM_001378969.1(KCND3):c.905G>A (p.Arg302His)

SNV
Germline

Chr1:111981822

Likely pathogenic

Spinocerebellar ataxia type 19/22

Criteria Provided
Single Submitter

1 SubmittersRCV005603964

NM_002739.5(PRKCG):c.402C>G (p.Cys134Trp)

SNV
Germline

Chr19:53889890

Likely pathogenic

Spinocerebellar ataxia type 14

Criteria Provided
Single Submitter

1 SubmittersRCV005625053