Total 169 pathogenic variants reported for Spinocerebellar ataxia type 1 
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 SubmittersRCV000014149RCV001268861

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 SubmittersRCV000014151RCV005252680

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 SubmittersRCV000014152RCV001698941

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 SubmittersRCV000014153RCV000517594

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 SubmittersRCV000014154RCV006436383

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 SubmittersRCV000014155RCV001288717

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 SubmittersRCV000014415RCV000992229RCV005624688

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 SubmittersRCV000032771RCV000624908RCV001091682RCV003389037RCV004767027RCV005888868

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 SubmittersRCV000034959RCV004700304

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 SubmittersRCV000034967RCV001818213

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 SubmittersRCV000034972RCV000516815RCV000766758

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 SubmittersRCV000034990RCV000713005

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 SubmittersRCV000034992RCV003886368

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 SubmittersRCV000034996RCV000992818

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 SubmittersRCV000035003RCV006436411

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 SubmittersRCV000056299RCV001268855

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 SubmittersRCV000056301RCV001849175

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 SubmittersRCV000516940RCV001119904RCV002054917RCV003905032

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 SubmittersRCV000172842RCV000415916RCV000552635RCV000618307RCV002247580RCV005627348

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 SubmittersRCV000172843RCV000619002RCV000712060RCV001370775RCV002505242

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 SubmittersRCV000172844RCV000444260RCV000460804

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 SubmittersRCV000190812RCV000677366RCV001552791RCV003152595

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 SubmittersRCV000190682RCV000277864RCV000613729

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 SubmittersRCV000193645RCV001262838

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 SubmittersRCV000208485RCV000249346RCV000558965RCV001555788RCV004737334

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 SubmittersRCV000209834RCV001310467

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 SubmittersRCV000243000RCV000696815RCV004999188RCV006277768

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 SubmittersRCV000254736RCV000623132RCV000677359RCV000850563RCV000995787RCV002278250RCV003335291

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 SubmittersRCV000377614RCV000677361RCV001598658RCV002523265RCV005398472RCV005897693RCV005897692RCV005897690RCV005897694RCV005897695RCV005897696RCV005897691RCV005897698RCV005897697

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 SubmittersRCV000337906RCV000415817RCV001660650

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 SubmittersRCV000303717RCV000903326RCV001289303RCV002522786

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 SubmittersRCV000341289RCV000925780RCV001289306RCV003957636RCV002522352

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 SubmittersRCV000353255RCV003401328

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 SubmittersRCV000298038RCV001289307RCV002520956RCV004999308

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 SubmittersRCV000318500RCV001288858RCV000960691RCV004021632

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 SubmittersRCV000275220RCV002522788RCV003105867

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 SubmittersRCV000379173RCV000518308RCV000658708RCV002522789RCV003969883

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 SubmittersRCV000400925RCV001357218RCV001642984RCV002522790RCV006441767

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 SubmittersRCV000318440RCV002521249RCV005243199

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 SubmittersRCV000413117RCV000618676RCV001080205RCV000845314

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 SubmittersRCV000416456RCV004719810

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 SubmittersRCV000430266RCV000757925RCV002255097RCV003223405

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 SubmittersRCV000482547RCV000786333RCV001079066RCV002393199RCV004551555

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 SubmittersRCV000488259RCV000765208

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 SubmittersRCV000498826RCV000505597RCV001857017RCV002481586RCV006452690RCV003302733

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 SubmittersRCV001644620RCV002525100RCV005398742

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 SubmittersRCV000519089RCV000624199RCV000677367RCV005027620

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 SubmittersRCV001488862RCV002395385

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 SubmittersRCV000578048RCV000578098RCV000578116RCV000577985RCV000578042RCV003159972

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 SubmittersRCV000621298RCV000994072RCV002529394

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 SubmittersRCV000600767RCV001288723

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 SubmittersRCV000621723RCV000801665RCV000678953RCV005000387

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 SubmittersRCV000619969RCV000992219RCV001226501RCV003338690

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 SubmittersRCV000617249RCV003129942RCV005091773

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 SubmittersRCV000622722RCV000992210RCV000764511RCV001542743

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 SubmittersRCV000640964RCV001563036RCV002397224

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 SubmittersRCV002311994RCV005250102RCV002268270

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 SubmittersRCV000712058RCV001233302RCV003303204

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 SubmittersRCV000762169RCV005897340RCV005392359

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 SubmittersRCV000853621RCV001268117

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 SubmittersRCV000991052RCV000992815

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 SubmittersRCV000991053RCV001288726

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 SubmittersRCV000991047RCV003480895

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 SubmittersRCV000992197RCV001147931RCV001251784RCV001262674RCV002549783RCV003943298RCV005056723

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 SubmittersRCV000993244RCV001118473

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 SubmittersRCV003296835RCV006612984

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 SubmittersRCV001027678RCV003307800

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 SubmittersRCV001115318RCV002556262

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 SubmittersRCV001131453RCV005243476RCV005913824

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 SubmittersRCV001145472RCV003142080RCV004789406

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 SubmittersRCV001198089RCV002559262RCV003908443

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 SubmittersRCV001203107RCV002411741RCV003148945RCV002504232RCV004768909

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 SubmittersRCV001253322RCV002462885

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 SubmittersRCV001289015RCV002393688RCV001871726RCV002493522

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 SubmittersRCV001289013RCV004629532RCV003389334RCV005626384

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 SubmittersRCV001647138RCV002357167

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 SubmittersRCV001647232RCV004998829

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 SubmittersRCV001647202RCV001664829

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 SubmittersRCV001729945RCV001545840

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 SubmittersRCV001663479RCV003163786RCV003640983

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 SubmittersRCV001755248RCV002272493

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 SubmittersRCV001779687RCV004040796RCV005023252

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 SubmittersRCV001783920RCV004762179

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 SubmittersRCV001809070RCV004571108

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 SubmittersRCV001922966RCV004043343RCV004762241

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 SubmittersRCV001889156RCV005624173

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 SubmittersRCV001889276RCV002553543RCV005635277

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 SubmittersRCV001982863RCV002397991RCV002479549RCV005623459

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 SubmittersRCV002207929RCV003161434RCV003485761

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 SubmittersRCV002139028RCV002291799RCV002391328

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 SubmittersRCV002225250RCV003434454RCV003485770

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 SubmittersRCV002274332RCV002280210

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 SubmittersRCV002391725RCV006470023

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 SubmittersRCV002410650RCV003526190RCV004763408

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 SubmittersRCV002406227RCV003100793RCV003482410

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 SubmittersRCV002410705RCV002473381RCV003097356

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 SubmittersRCV003039076RCV005627196

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 SubmittersRCV003148477RCV004585022

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 SubmittersRCV003499920RCV003992777

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 SubmittersRCV005028705RCV005638697

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