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/Likely pathogenic	Spinocerebellar ataxia type 14 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA341257	rs_121918511	5 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 Multiple Submitters No Conflicts	CA341266	rs_121918515	4 SubmittersRCV000014153 RCV000517594
NM_002739.5(PRKCG):c.1927T>C (p.Phe643Leu)	SNV Germline	Chr19:53906728	Pathogenic	Spinocerebellar ataxia type 14 Condition: not provided	Criteria Provided Single Submitter	CA341269	rs_121918516	3 SubmittersRCV000014154 RCV006436383
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	Conflicting classifications of pathogenicity	Spinocerebellar ataxia type 29 Inborn genetic diseases Condition: not provided Neurodevelopmental disorder Spinocerebellar ataxia type 15/16 Gillespie syndrome	Criteria Provided Conflicting Classifications	CA261182	rs_397514535	13 SubmittersRCV000032771 RCV000624908 RCV001091682 RCV003389037 RCV004767027 RCV005888868
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 not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA344603	rs_78437096	4 SubmittersRCV000034972 RCV000516815 RCV000766758
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_002739.5(PRKCG):c.76A>G (p.Arg26Gly)	SNV Germline	Chr19:53882570	Likely pathogenic	Spinocerebellar ataxia type 14 Condition: not provided	Criteria Provided Single Submitter	CA344650	rs_386134157	2 SubmittersRCV000035003 RCV006436411
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	Likely pathogenic	Variant of unknown significance Spinocerebellar ataxia type 19/22	Criteria Provided Single Submitter	CA144862	rs_397515478	3 SubmittersRCV000056301 RCV001849175
NM_173500.4(TTBK2):c.3329G>A (p.Arg1110His)	SNV Germline	Chr15:42746201	Conflicting classifications of pathogenicity	not specified Spinocerebellar ataxia type 11 Condition: not provided TTBK2-related disorder	Criteria Provided Conflicting Classifications	CA7516595	rs_146279300	5 SubmittersRCV000516940 RCV001119904 RCV002054917 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 Brugada syndrome	Criteria Provided Conflicting Classifications	CA200129	rs_150401343	13 SubmittersRCV000172842 RCV000415916 RCV000552635 RCV000618307 RCV002247580 RCV005627348
NM_001378969.1(KCND3):c.1798G>A (p.Gly600Arg)	SNV Germline	Chr1:111776247	Conflicting classifications of pathogenicity	Brugada syndrome 9 Cardiovascular phenotype Condition: not provided Spinocerebellar ataxia type 19/22 Spinocerebellar ataxia type 19/22 Brugada syndrome 9	Criteria Provided Conflicting Classifications	CA052108	rs_149344567	7 SubmittersRCV000172843 RCV000619002 RCV000712060 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	12 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 Spinocerebellar ataxia type 19/22 Condition: not provided KCND3-related disorder	Criteria Provided Conflicting Classifications	CA354891	rs_142744204	11 SubmittersRCV000208485 RCV000249346 RCV000558965 RCV001555788 RCV004737334
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 Condition: not provided	Criteria Provided Conflicting Classifications	CA1007379	rs_35027371	6 SubmittersRCV000243000 RCV000696815 RCV004999188 RCV006277768
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 Spinocerebellar ataxia type 29 Spinocerebellar ataxia type 15/16 Gillespie syndrome 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 Spinocerebellar ataxia type 15/16 Spinocerebellar ataxia type 29 Gillespie syndrome Clear cell carcinoma of kidney Malignant tumor of urinary bladder Familial cancer of breast Gastric cancer Thymoma Melanoma Acute myeloid leukemia Uterine corpus endometrial carcinoma Lung cancer	Criteria Provided Conflicting Classifications	CA2231486	rs_201519806	9 SubmittersRCV000377614 RCV000677361 RCV001598658 RCV002523265 RCV005398472 RCV005897693 RCV005897692 RCV005897690 RCV005897694 RCV005897695 RCV005897696 RCV005897691 RCV005897698 RCV005897697
NM_173500.4(TTBK2):c.3543G>A (p.Ser1181=)	SNV Germline	Chr15:42745987	Conflicting classifications of pathogenicity	Spinocerebellar ataxia type 11 Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA7516551	rs_199635198	4 SubmittersRCV000337906 RCV000415817 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	8 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 not specified Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7516766	rs_146515654	7 SubmittersRCV000318500 RCV001288858 RCV000960691 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 not specified Condition: not provided Inborn genetic diseases TTBK2-related disorder	Criteria Provided Conflicting Classifications	CA7516869	rs_200124857	6 SubmittersRCV000379173 RCV000518308 RCV000658708 RCV002522789 RCV003969883
NM_173500.4(TTBK2):c.595C>T (p.Arg199Trp)	SNV Germline	Chr15:42817040	Conflicting classifications of pathogenicity	Spinocerebellar ataxia type 11 Condition: not provided Spastic ataxia Inborn genetic diseases not specified	Criteria Provided Conflicting Classifications	CA7517435	rs_200125366	7 SubmittersRCV000400925 RCV001357218 RCV001642984 RCV002522790 RCV006441767
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 Spinocerebellar ataxia type 19/22 Condition: not provided	Criteria Provided Conflicting Classifications	CA1007663	rs_201340369	7 SubmittersRCV000413117 RCV000618676 RCV001080205 RCV000845314
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	Condition: not provided Spinocerebellar ataxia type 11	Criteria Provided Conflicting Classifications	CA7516505	rs_36104367	4 SubmittersRCV000488259 RCV000765208
NM_001378969.1(KCND3):c.1370C>T (p.Thr457Met)	SNV Germline	Chr1:111780691	Conflicting classifications of pathogenicity	Condition: not provided Brugada syndrome 9 Spinocerebellar ataxia type 19/22 Spinocerebellar ataxia type 19/22 Brugada syndrome 9 not specified Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA1007457	rs_199637120	6 SubmittersRCV000498826 RCV000505597 RCV001857017 RCV002481586 RCV006452690 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 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA3965136	rs_547323858	3 SubmittersRCV000578048 RCV000578098 RCV000578116 RCV000577985 RCV000578042 RCV003159972
NM_001378969.1(KCND3):c.186G>A (p.Pro62=)	SNV Germline	Chr1:111982541	Conflicting classifications of pathogenicity	Cardiovascular phenotype Condition: not provided Spinocerebellar ataxia type 19/22	Criteria Provided Conflicting Classifications	CA419708374	rs_1411627342	4 SubmittersRCV000621298 RCV000994072 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	Cardiovascular phenotype Spinocerebellar ataxia type 19/22 Brugada syndrome 9 Condition: not provided	Criteria Provided Conflicting Classifications	CA1007361	rs_778053688	4 SubmittersRCV000621723 RCV000801665 RCV000678953 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 15/16 Gillespie syndrome Spinocerebellar ataxia type 29 Spinocerebellar ataxia type 29	Criteria Provided Conflicting Classifications	CA351649065	rs_1553757628	6 SubmittersRCV000622722 RCV000992210 RCV000764511 RCV001542743
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	4 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_002739.5(PRKCG):c.1883C>T (p.Pro628Leu)	SNV Germline	Chr19:53906435	Conflicting classifications of pathogenicity	Spinocerebellar ataxia type 14	Criteria Provided Conflicting Classifications	CA407420249	rs_1303074743	2 SubmittersRCV000786070
NM_181675.4(PPP2R2B):c.707A>G (p.Asn236Ser)	SNV Germline	Chr5:146638334	Conflicting classifications of pathogenicity	Condition: not provided Clear cell carcinoma of kidney Spinocerebellar ataxia type 12	Criteria Provided Conflicting Classifications	CA3492666	rs_150981315	3 SubmittersRCV000762169 RCV005897340 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 Intellectual disability Spinocerebellar ataxia type 15/16 Inborn genetic diseases ITPR1-related disorder not specified	Criteria Provided Conflicting Classifications	CA2231990	rs_188558398	10 SubmittersRCV000992197 RCV001147931 RCV001251784 RCV001262674 RCV002549783 RCV003943298 RCV005056723
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.1724C>T (p.Thr575Met)	SNV Germline	Chr1:111777068	Conflicting classifications of pathogenicity	Cardiovascular phenotype Spinocerebellar ataxia type 19/22	Criteria Provided Conflicting Classifications	CA1007367	rs_775768536	2 SubmittersRCV003296835 RCV006612984
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 Sarcoma	Criteria Provided Conflicting Classifications	CA9640482	rs_377593245	3 SubmittersRCV001131453 RCV005243476 RCV005913824
NM_001378452.1(ITPR1):c.256G>A (p.Ala86Thr)	SNV Germline	Chr3:4627855	Conflicting classifications of pathogenicity	Autosomal dominant cerebellar ataxia Condition: not provided Spinocerebellar ataxia type 15/16	Criteria Provided Conflicting Classifications	CA2230834	rs_767787371	5 SubmittersRCV001145472 RCV003142080 RCV004789406
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 Condition: not provided Brugada syndrome 9 Spinocerebellar ataxia type 19/22 not specified	Criteria Provided Conflicting Classifications	CA1007323	rs_774713377	5 SubmittersRCV001203107 RCV002411741 RCV003148945 RCV002504232 RCV004768909
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 Cardiovascular phenotype Spinocerebellar ataxia type 19/22 Spinocerebellar ataxia type 19/22 Brugada syndrome 9	Criteria Provided Conflicting Classifications	CA1007377	rs_151164490	4 SubmittersRCV001289015 RCV002393688 RCV001871726 RCV002493522
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 Inborn genetic diseases Spinocerebellar ataxia type 29 Spinocerebellar ataxia type 15/16 Gillespie syndrome	Criteria Provided Conflicting Classifications	CA2232856	rs_187571979	4 SubmittersRCV001779687 RCV004040796 RCV005023252
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_004977.3(KCNC3):c.34G>T (p.Gly12Trp)	SNV Germline	Chr19:50329049	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Spinocerebellar ataxia type 13	Criteria Provided Conflicting Classifications	CA406956938	rs_1326942763	3 SubmittersRCV001889276 RCV002553543 RCV005635277
NM_001378969.1(KCND3):c.1702C>T (p.Arg568Cys)	SNV Germline	Chr1:111777090	Conflicting classifications of pathogenicity	Spinocerebellar ataxia type 19/22 Cardiovascular phenotype Spinocerebellar ataxia type 19/22 Brugada syndrome 9 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.1417G>A (p.Glu473Lys)	SNV Germline	Chr1:111780269	Conflicting classifications of pathogenicity	Cardiovascular phenotype Spinocerebellar ataxia type 19/22	Criteria Provided Conflicting Classifications	CA28899967	rs_974769346	2 SubmittersRCV002391725 RCV006470023
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.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_004977.3(KCNC3):c.1255G>A (p.Val419Ile)	SNV Germline	Chr19:50323698	Conflicting classifications of pathogenicity	Spinocerebellar ataxia type 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA9594265	rs_770686560	2 SubmittersRCV003148477 RCV004585022
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 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV005028705 RCV005638697
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.340T>G (p.Cys114Gly)	SNV Germline	Chr19:53889692	Likely pathogenic	Spinocerebellar ataxia type 14	No Assertion Criteria Provided			1 SubmittersRCV005638074
NM_002739.5(PRKCG):c.448T>G (p.Cys150Gly)	SNV Germline	Chr19:53889936	Likely pathogenic	Spinocerebellar ataxia type 14	Criteria Provided Single Submitter			1 SubmittersRCV005859641

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

SNV
Germline

Chr19:53889653

Pathogenic/Likely pathogenic

Spinocerebellar ataxia type 14
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA341257

rs_121918511

5 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
Multiple Submitters
No Conflicts

CA341266

rs_121918515

4 SubmittersRCV000014153 RCV000517594

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

SNV
Germline

Chr19:53906728

Pathogenic

Spinocerebellar ataxia type 14
Condition: not provided

Criteria Provided
Single Submitter

CA341269

rs_121918516

3 SubmittersRCV000014154 RCV006436383

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

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA261182

rs_397514535

13 SubmittersRCV000032771 RCV000624908 RCV001091682 RCV003389037 RCV004767027 RCV005888868

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
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA344603

rs_78437096

4 SubmittersRCV000034972 RCV000516815 RCV000766758

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_002739.5(PRKCG):c.76A>G (p.Arg26Gly)

SNV
Germline

Chr19:53882570

Likely pathogenic

Spinocerebellar ataxia type 14
Condition: not provided

Criteria Provided
Single Submitter

CA344650

rs_386134157

2 SubmittersRCV000035003 RCV006436411

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

Likely pathogenic

Variant of unknown significance
Spinocerebellar ataxia type 19/22

Criteria Provided
Single Submitter

CA144862

rs_397515478

3 SubmittersRCV000056301 RCV001849175

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

SNV
Germline

Chr15:42746201

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7516595

rs_146279300

5 SubmittersRCV000516940 RCV001119904 RCV002054917 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
Brugada syndrome

Criteria Provided
Conflicting Classifications

CA200129

rs_150401343

13 SubmittersRCV000172842 RCV000415916 RCV000552635 RCV000618307 RCV002247580 RCV005627348

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

SNV
Germline

Chr1:111776247

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA052108

rs_149344567

7 SubmittersRCV000172843 RCV000619002 RCV000712060 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

12 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
Spinocerebellar ataxia type 19/22
Condition: not provided
KCND3-related disorder

Criteria Provided
Conflicting Classifications

CA354891

rs_142744204

11 SubmittersRCV000208485 RCV000249346 RCV000558965 RCV001555788 RCV004737334

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
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1007379

rs_35027371

6 SubmittersRCV000243000 RCV000696815 RCV004999188 RCV006277768

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
Spinocerebellar ataxia type 29
Spinocerebellar ataxia type 15/16
Gillespie syndrome
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
Spinocerebellar ataxia type 15/16
Spinocerebellar ataxia type 29
Gillespie syndrome
Clear cell carcinoma of kidney
Malignant tumor of urinary bladder
Familial cancer of breast
Gastric cancer
Thymoma
Melanoma
Acute myeloid leukemia
Uterine corpus endometrial carcinoma
Lung cancer

Criteria Provided
Conflicting Classifications

CA2231486

rs_201519806

9 SubmittersRCV000377614 RCV000677361 RCV001598658 RCV002523265 RCV005398472 RCV005897693 RCV005897692 RCV005897690 RCV005897694 RCV005897695 RCV005897696 RCV005897691 RCV005897698 RCV005897697

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

SNV
Germline

Chr15:42745987

Conflicting classifications of pathogenicity

Spinocerebellar ataxia type 11
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA7516551

rs_199635198

4 SubmittersRCV000337906 RCV000415817 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

8 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
not specified
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7516766

rs_146515654

7 SubmittersRCV000318500 RCV001288858 RCV000960691 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
not specified
Condition: not provided
Inborn genetic diseases
TTBK2-related disorder

Criteria Provided
Conflicting Classifications

CA7516869

rs_200124857

6 SubmittersRCV000379173 RCV000518308 RCV000658708 RCV002522789 RCV003969883

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

SNV
Germline

Chr15:42817040

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7517435

rs_200125366

7 SubmittersRCV000400925 RCV001357218 RCV001642984 RCV002522790 RCV006441767

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
Spinocerebellar ataxia type 19/22
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1007663

rs_201340369

7 SubmittersRCV000413117 RCV000618676 RCV001080205 RCV000845314

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

Condition: not provided
Spinocerebellar ataxia type 11

Criteria Provided
Conflicting Classifications

CA7516505

rs_36104367

4 SubmittersRCV000488259 RCV000765208

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

SNV
Germline

Chr1:111780691

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1007457

rs_199637120

6 SubmittersRCV000498826 RCV000505597 RCV001857017 RCV002481586 RCV006452690 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
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA3965136

rs_547323858

3 SubmittersRCV000578048 RCV000578098 RCV000578116 RCV000577985 RCV000578042 RCV003159972

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

SNV
Germline

Chr1:111982541

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA419708374

rs_1411627342

4 SubmittersRCV000621298 RCV000994072 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

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

Criteria Provided
Conflicting Classifications

CA1007361

rs_778053688

4 SubmittersRCV000621723 RCV000801665 RCV000678953 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 15/16
Gillespie syndrome
Spinocerebellar ataxia type 29
Spinocerebellar ataxia type 29

Criteria Provided
Conflicting Classifications

CA351649065

rs_1553757628

6 SubmittersRCV000622722 RCV000992210 RCV000764511 RCV001542743

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

4 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_002739.5(PRKCG):c.1883C>T (p.Pro628Leu)

SNV
Germline

Chr19:53906435

Conflicting classifications of pathogenicity

Spinocerebellar ataxia type 14

Criteria Provided
Conflicting Classifications

CA407420249

rs_1303074743

2 SubmittersRCV000786070

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

SNV
Germline

Chr5:146638334

Conflicting classifications of pathogenicity

Condition: not provided
Clear cell carcinoma of kidney
Spinocerebellar ataxia type 12

Criteria Provided
Conflicting Classifications

CA3492666

rs_150981315

3 SubmittersRCV000762169 RCV005897340 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
Intellectual disability
Spinocerebellar ataxia type 15/16
Inborn genetic diseases
ITPR1-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA2231990

rs_188558398

10 SubmittersRCV000992197 RCV001147931 RCV001251784 RCV001262674 RCV002549783 RCV003943298 RCV005056723

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.1724C>T (p.Thr575Met)

SNV
Germline

Chr1:111777068

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Spinocerebellar ataxia type 19/22

Criteria Provided
Conflicting Classifications

CA1007367

rs_775768536

2 SubmittersRCV003296835 RCV006612984

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
Sarcoma

Criteria Provided
Conflicting Classifications

CA9640482

rs_377593245

3 SubmittersRCV001131453 RCV005243476 RCV005913824

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

SNV
Germline

Chr3:4627855

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2230834

rs_767787371

5 SubmittersRCV001145472 RCV003142080 RCV004789406

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

Criteria Provided
Conflicting Classifications

CA1007323

rs_774713377

5 SubmittersRCV001203107 RCV002411741 RCV003148945 RCV002504232 RCV004768909

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
Cardiovascular phenotype
Spinocerebellar ataxia type 19/22
Spinocerebellar ataxia type 19/22
Brugada syndrome 9

Criteria Provided
Conflicting Classifications

CA1007377

rs_151164490

4 SubmittersRCV001289015 RCV002393688 RCV001871726 RCV002493522

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
Inborn genetic diseases
Spinocerebellar ataxia type 29
Spinocerebellar ataxia type 15/16
Gillespie syndrome

Criteria Provided
Conflicting Classifications

CA2232856

rs_187571979

4 SubmittersRCV001779687 RCV004040796 RCV005023252

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_004977.3(KCNC3):c.34G>T (p.Gly12Trp)

SNV
Germline

Chr19:50329049

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Spinocerebellar ataxia type 13

Criteria Provided
Conflicting Classifications

CA406956938

rs_1326942763

3 SubmittersRCV001889276 RCV002553543 RCV005635277

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

SNV
Germline

Chr1:111777090

Conflicting classifications of pathogenicity

Spinocerebellar ataxia type 19/22
Cardiovascular phenotype
Spinocerebellar ataxia type 19/22
Brugada syndrome 9
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.1417G>A (p.Glu473Lys)

SNV
Germline

Chr1:111780269

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Spinocerebellar ataxia type 19/22

Criteria Provided
Conflicting Classifications

CA28899967

rs_974769346

2 SubmittersRCV002391725 RCV006470023

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.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_004977.3(KCNC3):c.1255G>A (p.Val419Ile)

SNV
Germline

Chr19:50323698

Conflicting classifications of pathogenicity

Spinocerebellar ataxia type 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9594265

rs_770686560

2 SubmittersRCV003148477 RCV004585022

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
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005028705 RCV005638697

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.340T>G (p.Cys114Gly)

SNV
Germline

Chr19:53889692

Likely pathogenic

Spinocerebellar ataxia type 14

No Assertion Criteria Provided

1 SubmittersRCV005638074

NM_002739.5(PRKCG):c.448T>G (p.Cys150Gly)

SNV
Germline

Chr19:53889936

Likely pathogenic

Spinocerebellar ataxia type 14

Criteria Provided
Single Submitter

1 SubmittersRCV005859641