Total 46 pathogenic variants reported for Spinocerebellar ataxia type 14 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_002739.5(PRKCG):c.301C>T (p.His101Tyr) SNV
Germline		 Chr19:53889653 Pathogenic Spinocerebellar ataxia type 14
Condition: not provided		 Criteria Provided
Single Submitter
 CA341257 rs_121918511

4 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 No Assertion Criteria Provided
 CA341261 rs_121918513

2 SubmittersRCV000014151
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
Single Submitter
 CA341266 rs_121918515

3 SubmittersRCV000014153RCV000517594
NM_002739.5(PRKCG):c.1927T>C (p.Phe643Leu) SNV
Germline		 Chr19:53906728 Pathogenic Spinocerebellar ataxia type 14 No Assertion Criteria Provided
 CA341269 rs_121918516

2 SubmittersRCV000014154
NM_002739.5(PRKCG):c.1081A>G (p.Ser361Gly) SNV
Germline		 Chr19:53898100 Likely pathogenic Spinocerebellar ataxia type 14
Condition: not provided		 Criteria Provided
Single Submitter
 CA341272 rs_121918517

3 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_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_002739.5(PRKCG):c.1078G>A (p.Gly360Ser) SNV
Not provided		 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

3 SubmittersRCV000034972RCV000516815RCV000766758
NM_002739.5(PRKCG):c.229T>A (p.Cys77Ser) SNV
Not provided		 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
Not provided		 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
Not provided		 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
Not provided		 Chr19:53889905 Pathogenic Spinocerebellar ataxia type 14 No Assertion Criteria Provided
 CA344646 rs_386134169

1 SubmittersRCV000034998
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_002739.5(PRKCG):c.1730C>T (p.Ser577Leu) SNV
Germline		 Chr19:53904708 Conflicting classifications of pathogenicity Spinocerebellar ataxia type 14
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA9640685 rs_551805527

3 SubmittersRCV000318440RCV002521249
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_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_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
 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
 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
 rs_1599943097

2 SubmittersRCV000991047RCV003480895
NM_002739.5(PRKCG):c.302A>G (p.His101Arg) SNV
Germline		 Chr19:53889654 Likely pathogenic Spinocerebellar ataxia type 14 No Assertion Criteria Provided
 rs_2068656783

2 SubmittersRCV001175615
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
 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
 rs_121918515

1 SubmittersRCV001647231
NM_002739.5(PRKCG):c.419G>A (p.Arg140Gln) SNV
Unknown		 Chr19:53889907 Conflicting classifications of pathogenicity Spinocerebellar ataxia type 14
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_770016586

2 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
 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
 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
 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
 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
 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
 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
 rs_2122988688

1 SubmittersRCV001542613
NM_002739.5(PRKCG):c.107A>G (p.His36Arg) SNV
Unknown		 Chr19:53882601 Pathogenic Spinocerebellar ataxia type 14 No Assertion Criteria Provided
 rs_2122973105

1 SubmittersRCV001849199
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
 rs_2122976509

2 SubmittersRCV001809070RCV004571108
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