PRKCG — 360 ClinVar variants
All ClinVar germline PRKCG variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 164 flagged for review →
20 Pathogenic · 1 Pathogenic/Likely pathogenic · 31 Likely pathogenic · 14 Conflicting · 53 Benign · 8 Benign/Likely benign · 43 Likely benign · 190 Uncertain significance
Full PRKCG gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 164
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors agree, ClinVar conflicts 3
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
PRKCG p.Cys77Tyr
Conflicting
Single submitter
spinocerebellar ataxia type 14
-
PRKCG p.Glu156Lys
Conflicting
Single submitter
spinocerebellar ataxia type 14
-
PRKCG p.Val692Gly
Conflicting
Single submitter
spinocerebellar ataxia type 14
Predicted LoF vs a conflicting call 2
ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.
Predictors lean, ClinVar uncertain 102
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
PRKCG p.Ala461Val
Uncertain significance
Multiple submitters
spinocerebellar ataxia type 14
- PRKCG p.Arg160Leu Uncertain significance Multiple submitters
-
PRKCG p.Arg401Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PRKCG p.Asp95Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PRKCG p.Gln210Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
- PRKCG p.Gly128Arg Uncertain significance Multiple submitters
-
PRKCG p.Gly159Glu
Uncertain significance
Multiple submitters
spinocerebellar ataxia type 14
-
PRKCG p.Gly3Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
- PRKCG p.Pro289Gln Uncertain significance Multiple submitters
-
PRKCG p.Thr214Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
- PRKCG p.Val138Met Uncertain significance Multiple submitters
- PRKCG p.Ala217Ser Uncertain significance Single submitter
- PRKCG p.Ala582Asp Uncertain significance Single submitter
- PRKCG p.Ala650Val Uncertain significance Single submitter
- PRKCG p.Ala88Val Uncertain significance Single submitter
-
PRKCG p.Arg16Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- PRKCG p.Arg238His Uncertain significance Single submitter
-
PRKCG p.Arg239Trp
Uncertain significance
Single submitter
spinocerebellar ataxia type 14
- PRKCG p.Arg249Trp Uncertain significance Single submitter
-
PRKCG p.Arg316Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- PRKCG p.Arg597Cys Uncertain significance Single submitter
- PRKCG p.Arg597His Uncertain significance Single submitter
- PRKCG p.Arg634Gly Uncertain significance Single submitter
- PRKCG p.Asn137Tyr Uncertain significance Single submitter
- PRKCG p.Asp115Glu Uncertain significance Single submitter
- PRKCG p.Asp115Tyr Uncertain significance Single submitter
-
PRKCG p.Asp153Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- PRKCG p.Asp153Glu Uncertain significance Single submitter
- PRKCG p.Asp246His Uncertain significance Single submitter
- PRKCG p.Asp254Asn Uncertain significance Single submitter
- PRKCG p.Asp294Val Uncertain significance Single submitter
- PRKCG p.Asp385Gly Uncertain significance Single submitter
-
PRKCG p.Asp484Val
Uncertain significance
Single submitter
autosomal recessive spinocerebellar ataxia 14
-
PRKCG p.Asp556Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- PRKCG p.Asp556Glu Uncertain significance Single submitter
-
PRKCG p.Cys131Tyr
Uncertain significance
Single submitter
spinocerebellar ataxia type 14
- PRKCG p.Cys142Tyr Uncertain significance Single submitter
- PRKCG p.Cys150Arg Uncertain significance Single submitter
-
PRKCG p.Cys150Trp
Uncertain significance
Single submitter
cerebellar ataxia
-
PRKCG p.Cys296Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- PRKCG p.Cys52Arg Uncertain significance Single submitter
- PRKCG p.Cys52Phe Uncertain significance Single submitter
- PRKCG p.Cys77Arg Uncertain significance Single submitter
- PRKCG p.Cys85Phe Uncertain significance Single submitter
- PRKCG p.Glu399Gln Uncertain significance Single submitter
-
PRKCG p.Gly14Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- PRKCG p.Gly159Arg Uncertain significance Single submitter
- PRKCG p.Gly23Glu Uncertain significance Single submitter
-
PRKCG p.Gly340Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- PRKCG p.Gly500Ser Uncertain significance Single submitter
-
PRKCG p.Gly517Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- PRKCG p.Gly58Asp Uncertain significance Single submitter
- PRKCG p.Gly604Arg Uncertain significance Single submitter
-
PRKCG p.Gly87Asp
Uncertain significance
Single submitter
spinocerebellar ataxia type 14
- PRKCG p.His101Asn Uncertain significance Single submitter
-
PRKCG p.His116Arg
Uncertain significance
Single submitter
autosomal dominant cerebellar ataxia
- PRKCG p.His139Asn Uncertain significance Single submitter
- PRKCG p.His174Arg Uncertain significance Single submitter
-
PRKCG p.His611Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- PRKCG p.His74Arg Uncertain significance Single submitter
- PRKCG p.Ile165Met Uncertain significance Single submitter
- PRKCG p.Ile466Thr Uncertain significance Single submitter
- PRKCG p.Ile608Thr Uncertain significance Single submitter
- PRKCG p.Ile627Ser Uncertain significance Single submitter
- PRKCG p.Leu121Pro Uncertain significance Single submitter
-
PRKCG p.Leu405Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- PRKCG p.Leu468Pro Uncertain significance Single submitter
- PRKCG p.Leu488Pro Uncertain significance Single submitter
- PRKCG p.Leu64Pro Uncertain significance Single submitter
- PRKCG p.Leu662Pro Uncertain significance Single submitter
- PRKCG p.Lys335Met Uncertain significance Single submitter
-
PRKCG p.Met136Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- PRKCG p.Met186Val Uncertain significance Single submitter
- PRKCG p.Phe48Ser Uncertain significance Single submitter
- PRKCG p.Phe541Cys Uncertain significance Single submitter
- PRKCG p.Pro111Ala Uncertain significance Single submitter
-
PRKCG p.Pro111Leu
Uncertain significance
Single submitter
spinocerebellar ataxia type 14
- PRKCG p.Pro289Leu Uncertain significance Single submitter
- PRKCG p.Pro343Leu Uncertain significance Single submitter
-
PRKCG p.Pro524Arg
Uncertain significance
Single submitter
spinocerebellar ataxia type 14
-
PRKCG p.Pro531Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
PRKCG p.Pro635Leu
Uncertain significance
Single submitter
spinocerebellar ataxia type 14
- PRKCG p.Pro86Ala Uncertain significance Single submitter
- PRKCG p.Ser352Asn Uncertain significance Single submitter
- PRKCG p.Ser361Arg Uncertain significance Single submitter
-
PRKCG p.Ser687Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
PRKCG p.Thr112Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
PRKCG p.Thr169Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
PRKCG p.Thr332Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- PRKCG p.Thr518Ile Uncertain significance Single submitter
-
PRKCG p.Thr571Ser
Uncertain significance
Single submitter
spinocerebellar ataxia type 14
-
PRKCG p.Thr674Ser
Uncertain significance
Single submitter
PRKCG-related disorder
-
PRKCG p.Trp223Arg
Uncertain significance
Single submitter
spinocerebellar ataxia type 14
- PRKCG p.Tyr532Cys Uncertain significance Single submitter
- PRKCG p.Val125Glu Uncertain significance Single submitter
- PRKCG p.Val236Ala Uncertain significance Single submitter
-
PRKCG p.Val263Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
PRKCG p.Val288Met
Uncertain significance
Single submitter
Inborn genetic diseases
- PRKCG p.Val68Ile Uncertain significance Single submitter
-
PRKCG p.Val694Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
PRKCG p.Val696Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
PRKCG p.Gly411Ala
Uncertain significance
No assertion criteria
spinocerebellar ataxia type 14
Predictors split 57
The independent predictors disagree with each other — read with care.
-
PRKCG p.Ala404Thr
Uncertain significance
Multiple submitters
spinocerebellar ataxia type 14
- PRKCG p.Arg205Trp Uncertain significance Multiple submitters
- PRKCG p.Arg213Gln Benign/Likely benign Multiple submitters
- PRKCG p.Arg26Lys Uncertain significance Multiple submitters
-
PRKCG p.Arg634Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PRKCG p.Glu569Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
- PRKCG p.Glu620Lys Uncertain significance Multiple submitters
-
PRKCG p.Leu299Ile
Uncertain significance
Multiple submitters
spinocerebellar ataxia type 14
-
PRKCG p.Lys576Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
- PRKCG p.Val271Met Uncertain significance Multiple submitters
- PRKCG p.Val398Leu Uncertain significance Multiple submitters
-
PRKCG p.Val696Ile
Uncertain significance
Multiple submitters
spinocerebellar ataxia type 14
- PRKCG p.Ala368Val Uncertain significance Single submitter
- PRKCG p.Arg104Gly Uncertain significance Single submitter
-
PRKCG p.Arg140Gln
Conflicting
Single submitter
spinocerebellar ataxia type 14
-
PRKCG p.Arg238Cys
Uncertain significance
Single submitter
spinocerebellar ataxia type 14
-
PRKCG p.Arg345Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- PRKCG p.Arg580Gln Uncertain significance Single submitter
-
PRKCG p.Arg580Trp
Conflicting
Single submitter
Inborn genetic diseases
-
PRKCG p.Arg615Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
PRKCG p.Arg624Gln
Conflicting
Single submitter
Inborn genetic diseases
- PRKCG p.Arg638His Uncertain significance Single submitter
-
PRKCG p.Arg659His
Uncertain significance
Single submitter
Inborn genetic diseases
-
PRKCG p.Arg686Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- PRKCG p.Asn189Ser Uncertain significance Single submitter
- PRKCG p.Asn287Ser Uncertain significance Single submitter
-
PRKCG p.Asp292Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
PRKCG p.Asp374Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
PRKCG p.Gln210Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
PRKCG p.Gln552Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- PRKCG p.Gln565Glu Uncertain significance Single submitter
- PRKCG p.Gly409Arg Uncertain significance Single submitter
- PRKCG p.Gly450Asp Uncertain significance Single submitter
-
PRKCG p.Gly509Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
PRKCG p.Gly640Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
PRKCG p.Gly672Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
PRKCG p.His174Asp
Uncertain significance
Single submitter
spinocerebellar ataxia type 14
-
PRKCG p.His174Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- PRKCG p.Ile173Ser Uncertain significance Single submitter
-
PRKCG p.Leu449Arg
Uncertain significance
Single submitter
spinocerebellar ataxia type 14
-
PRKCG p.Met355Val
Uncertain significance
Single submitter
Inborn genetic diseases
- PRKCG p.Pro319Thr Uncertain significance Single submitter
- PRKCG p.Pro325Leu Uncertain significance Single submitter
-
PRKCG p.Pro602Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
PRKCG p.Pro628Leu
Conflicting
Single submitter
spinocerebellar ataxia type 14
- PRKCG p.Ser330Thr Uncertain significance Single submitter
-
PRKCG p.Ser577Leu
Conflicting
Single submitter
spinocerebellar ataxia type 14
- PRKCG p.Ser577Trp Uncertain significance Single submitter
- PRKCG p.Ser690Asn Uncertain significance Single submitter
-
PRKCG p.Thr112Ala
Likely pathogenic
Single submitter
frontotemporal dementia
-
PRKCG p.Thr510Lys
Conflicting
Single submitter
Inborn genetic diseases
-
PRKCG p.Val242Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
PRKCG p.Val271Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
PRKCG p.Val583Met
Conflicting
Single submitter
spinocerebellar ataxia type 14
-
PRKCG p.Glu79Asp
Uncertain significance
No assertion criteria
PRKCG-related disorder
-
PRKCG p.Ser132Pro
Likely pathogenic
No assertion criteria
spinocerebellar ataxia type 14
-
PRKCG p.Val271Leu
Benign
No assertion criteria
PRKCG-related disorder
All PRKCG variants
Pathogenic 20
- p.Gln127Arg Multiple submitters spinocerebellar ataxia type 14
- p.Val138Glu Multiple submitters spinocerebellar ataxia type 14
- p.Gly118Asp Single submitter spinocerebellar ataxia type 14
- p.Gly128Asp Single submitter spinocerebellar ataxia type 14
- p.Phe643Leu Single submitter spinocerebellar ataxia type 14
- p.Ser119Phe Single submitter spinocerebellar ataxia type 14
- p.Ser119Pro Single submitter spinocerebellar ataxia type 14
- p.Tyr436Ter Single submitter spinocerebellar ataxia type 14
- c.530_919del No assertion criteria spinocerebellar ataxia type 14
- p.Asp480Tyr No assertion criteria spinocerebellar ataxia type 14
- p.Cys114Tyr No assertion criteria spinocerebellar ataxia type 14
- p.Cys150Phe No assertion criteria spinocerebellar ataxia type 14
- p.Cys77Ser No assertion criteria spinocerebellar ataxia type 14
- p.Gly123Arg No assertion criteria spinocerebellar ataxia type 14
- p.Gly360Ser No assertion criteria spinocerebellar ataxia type 14
- p.His101_Lys102del No assertion criteria spinocerebellar ataxia type 14
- p.His101Gln No assertion criteria spinocerebellar ataxia type 14
- p.His139Gln No assertion criteria spinocerebellar ataxia type 14
- p.His36Arg No assertion criteria spinocerebellar ataxia type 14
- p.Met697_Ter698delinsXaa No assertion criteria spinocerebellar ataxia type 14
Pathogenic/Likely pathogenic 1
- p.His101Tyr Multiple submitters spinocerebellar ataxia type 14
Likely pathogenic 31
- p.Asn642Lys Multiple submitters hereditary ataxia
- p.Gln127Lys Multiple submitters spinocerebellar ataxia type 14
- p.Gly63Val Multiple submitters spinocerebellar ataxia type 14
- p.His74Asn Multiple submitters spinocerebellar ataxia type 14
- p.His74Tyr Multiple submitters spinocerebellar ataxia type 14
- p.Leu120Phe Multiple submitters spinocerebellar ataxia type 14
- p.Ala461Thr Single submitter spinocerebellar ataxia type 14
- p.Arg26Gly Single submitter spinocerebellar ataxia type 14
- p.Arg41Pro Single submitter spinocerebellar ataxia type 14
- p.Asp115Val Single submitter hereditary ataxia
- p.Cys131Arg Single submitter spinocerebellar ataxia type 14
- p.Cys134Phe Single submitter
- p.Cys134Trp Single submitter spinocerebellar ataxia type 14
- p.Cys150Gly Single submitter spinocerebellar ataxia type 14
- p.Cys52Ser Single submitter spinocerebellar ataxia type 14
- p.Cys66Tyr Single submitter spinocerebellar ataxia type 14
- p.Gln127Pro Single submitter spinocerebellar ataxia type 14
- p.Gly118Arg Single submitter
- p.Gly123Glu Single submitter spinocerebellar ataxia type 14
- p.Phe643Cys Single submitter spinocerebellar ataxia type 14
- p.Phe83_Glu84insVal Single submitter
- p.Ser361Asn Single submitter
- p.Ser361Gly Single submitter spinocerebellar ataxia type 14
- p.Thr112Ala Single submitter frontotemporal dementia ⚠
- p.Asp153His No assertion criteria spinocerebellar ataxia type 14
- p.Cys114Gly No assertion criteria spinocerebellar ataxia type 14
- p.Gln127His No assertion criteria spinocerebellar ataxia type 14
- p.Gly63Arg No assertion criteria spinocerebellar ataxia type 14
- p.His101Arg No assertion criteria spinocerebellar ataxia type 14
- p.Ser132Pro No assertion criteria spinocerebellar ataxia type 14 ⚠
- p.Tyr108Cys No assertion criteria spinocerebellar ataxia type 14
Conflicting classifications of pathogenicity 14
- c.1764+1G>A Single submitter ⚠
- c.1764+1G>T Single submitter ⚠
- c.940-3C>T Single submitter spinocerebellar ataxia type 14
- p.Arg140Gln Single submitter spinocerebellar ataxia type 14 ⚠
- p.Arg580Trp Single submitter Inborn genetic diseases ⚠
- p.Arg624Gln Single submitter Inborn genetic diseases ⚠
- p.Cys77Tyr Single submitter spinocerebellar ataxia type 14 ⚠
- p.Glu156Lys Single submitter spinocerebellar ataxia type 14 ⚠
- p.Pro508= Single submitter
- p.Pro628Leu Single submitter spinocerebellar ataxia type 14 ⚠
- p.Ser577Leu Single submitter spinocerebellar ataxia type 14 ⚠
- p.Thr510Lys Single submitter Inborn genetic diseases ⚠
- p.Val583Met Single submitter spinocerebellar ataxia type 14 ⚠
- p.Val692Gly Single submitter spinocerebellar ataxia type 14 ⚠
Benign 53
- c.1281+26T>G Multiple submitters
- c.1437-64T>C Multiple submitters
- c.1576-136T>C Multiple submitters
- c.1905+72G>C Multiple submitters
- c.203-102A>T Multiple submitters
- c.203-202G>T Multiple submitters
- c.286-144C>G Multiple submitters
- c.286-66A>C Multiple submitters
- c.529+29G>A Multiple submitters
- c.686+14G>T Multiple submitters spinocerebellar ataxia type 14
- c.821+115A>G Multiple submitters
- c.821+139G>A Multiple submitters
- c.821+145A>G Multiple submitters
- c.822-34C>T Multiple submitters
- c.*428C>G Multiple submitters spinocerebellar ataxia type 14
- p.Ala24= Multiple submitters spinocerebellar ataxia type 14
- p.Arg166= Multiple submitters spinocerebellar ataxia type 14
- p.Asn189= Multiple submitters spinocerebellar ataxia type 14
- p.Cys69= Multiple submitters spinocerebellar ataxia type 14
- p.Leu468= Multiple submitters spinocerebellar ataxia type 14
- p.Phe499= Multiple submitters spinocerebellar ataxia type 14
- p.Phe647= Multiple submitters spinocerebellar ataxia type 14
- p.Pro270= Multiple submitters
- p.Ser687Gly Multiple submitters spinocerebellar ataxia type 14
- c.1281+135T>G Single submitter
- c.1281+236A>T Single submitter
- c.1575+133T>G Single submitter
- c.1576-161A>C Single submitter
- c.1576-167_1576-157dup Single submitter
- c.1656+191A>T Single submitter
- c.1657-279T>C Single submitter
- c.171-192G>T Single submitter
- c.1764+39_1764+40insT Single submitter
- c.286-12C>A Single submitter spinocerebellar ataxia type 14
- c.286-203dup Single submitter
- c.286-311G>A Single submitter
- c.530-216dup Single submitter
- c.530-6G>A Single submitter
- c.687-147G>C Single submitter
- c.821+107GC[3] Single submitter
- c.821+110CA[12] Single submitter
- c.821+110CA[15] Single submitter
- c.821+130_821+131insGC Single submitter
- c.821+149_821+154del Single submitter
- c.821+150CA[5] Single submitter
- c.909+76_909+77del Single submitter
- c.940-211del Single submitter
- c.*432G>A Single submitter
- c.*596C>T Single submitter spinocerebellar ataxia type 14
- c.*670T>C Single submitter spinocerebellar ataxia type 14
- p.Arg238= Single submitter
- p.Asn253= Single submitter
- p.Val271Leu No assertion criteria PRKCG-related disorder ⚠
Benign/Likely benign 8
- c.1281+9G>C Multiple submitters spinocerebellar ataxia type 14
- c.530-7C>T Multiple submitters
- c.*199C>T Multiple submitters spinocerebellar ataxia type 14
- p.Arg213Gln Multiple submitters ⚠
- p.Asp95= Multiple submitters spinocerebellar ataxia type 14
- p.Gly612= Multiple submitters spinocerebellar ataxia type 14
- p.Thr214= Multiple submitters spinocerebellar ataxia type 14
- p.Tyr574= Multiple submitters spinocerebellar ataxia type 14
Likely benign 43
- c.1092+129C>T Multiple submitters
- c.1093-92G>C Multiple submitters
- c.1576-116G>C Multiple submitters
- c.1765-59G>A Multiple submitters
- c.397+10C>G Multiple submitters
- c.821+109G>A Multiple submitters
- c.822-14C>T Multiple submitters spinocerebellar ataxia type 14
- c.939+94A>G Multiple submitters
- p.Pro147= Multiple submitters spinocerebellar ataxia type 14
- p.Val681= Multiple submitters
- c.1765-13G>C Single submitter
- c.1765-197_1765-196insC Single submitter
- c.1765-206_1765-192del Single submitter
- c.1765-214del Single submitter
- c.286-7C>T Single submitter
- c.687-6C>T Single submitter
- c.821+109_821+110del Single submitter
- c.821+110_821+111insGCACACACAC Single submitter
- c.821+110CA[13] Single submitter
- c.821+139_821+140del Single submitter
- c.910-12_910-9del Single submitter
- c.940-180C>T Single submitter
- c.-192_-178del Single submitter
- c.*48G>A Single submitter spinocerebellar ataxia type 14
- c.*84C>A Single submitter spinocerebellar ataxia type 14
- p.Ala293Gly Single submitter
- p.Asp428= Single submitter
- p.Glu237Asp Single submitter spinocerebellar ataxia type 14
- p.Glu454= Single submitter
- p.Gly178= Single submitter
- p.Gly87= Single submitter
- p.His174= Single submitter
- p.Leu598= Single submitter
- p.Pro289= Single submitter
- p.Pro524= Single submitter
- p.Pro633= Single submitter
- p.Ser297= Single submitter
- p.Thr39= Single submitter
- p.Tyr195= Single submitter
- p.Val236= Single submitter
- c.170+9A>T No assertion criteria PRKCG-related disorder
- p.Ala293= No assertion criteria PRKCG-related disorder
- p.Pro606= No assertion criteria PRKCG-related disorder
Uncertain significance 190
- p.Ala404Thr Multiple submitters spinocerebellar ataxia type 14 ⚠
- p.Ala461Val Multiple submitters spinocerebellar ataxia type 14 ⚠
- p.Arg160Leu Multiple submitters ⚠
- p.Arg205Trp Multiple submitters ⚠
- p.Arg26Lys Multiple submitters ⚠
- p.Arg401Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg634Cys Multiple submitters Inborn genetic diseases ⚠
- p.Asp669fs Multiple submitters
- p.Asp95Asn Multiple submitters Inborn genetic diseases ⚠
- p.Gln210Arg Multiple submitters Inborn genetic diseases ⚠
- p.Glu569Gly Multiple submitters Inborn genetic diseases ⚠
- p.Glu620Lys Multiple submitters ⚠
- p.Gly128Arg Multiple submitters ⚠
- p.Gly159Glu Multiple submitters spinocerebellar ataxia type 14 ⚠
- p.Gly3Asp Multiple submitters Inborn genetic diseases ⚠
- p.Leu299Ile Multiple submitters spinocerebellar ataxia type 14 ⚠
- p.Lys576Asn Multiple submitters Inborn genetic diseases ⚠
- p.Pro289Gln Multiple submitters ⚠
- p.Thr214Met Multiple submitters Inborn genetic diseases ⚠
- p.Val138Met Multiple submitters ⚠
- p.Val271Met Multiple submitters ⚠
- p.Val398Leu Multiple submitters ⚠
- p.Val696Ile Multiple submitters spinocerebellar ataxia type 14 ⚠
- c.1282-14G>A Single submitter spinocerebellar ataxia type 14
- c.1282-6C>T Single submitter
- c.1374-10C>T Single submitter
- c.1437-6G>A Single submitter
- c.1764+8C>T Single submitter spinocerebellar ataxia type 14
- c.1905+5G>A Single submitter
- c.1906-10T>C Single submitter spinocerebellar ataxia type 14
- c.529+11G>T Single submitter spinocerebellar ataxia type 14
- c.686+300C>G Single submitter spinocerebellar ataxia type 14
- c.-12G>T Single submitter
- c.-233C>T Single submitter spinocerebellar ataxia type 14
- c.*184C>T Single submitter spinocerebellar ataxia type 14
- c.*360G>C Single submitter spinocerebellar ataxia type 14
- c.*39C>T Single submitter spinocerebellar ataxia type 14
- c.*415G>C Single submitter spinocerebellar ataxia type 14
- c.*426C>T Single submitter spinocerebellar ataxia type 14
- c.*427T>C Single submitter spinocerebellar ataxia type 14
- c.*481T>C Single submitter spinocerebellar ataxia type 14
- c.*550C>T Single submitter spinocerebellar ataxia type 14
- c.*622C>G Single submitter spinocerebellar ataxia type 14
- p.Ala217Ser Single submitter ⚠
- p.Ala24Pro Single submitter
- p.Ala368Val Single submitter ⚠
- p.Ala582Asp Single submitter ⚠
- p.Ala650Val Single submitter ⚠
- p.Ala88Val Single submitter ⚠
- p.Arg104Gly Single submitter ⚠
- p.Arg16Gln Single submitter Inborn genetic diseases ⚠
- p.Arg213= Single submitter spinocerebellar ataxia type 14
- p.Arg238Cys Single submitter spinocerebellar ataxia type 14 ⚠
- p.Arg238His Single submitter ⚠
- p.Arg239Trp Single submitter spinocerebellar ataxia type 14 ⚠
- p.Arg249Trp Single submitter ⚠
- p.Arg316Gln Single submitter Inborn genetic diseases ⚠
- p.Arg345Leu Single submitter Inborn genetic diseases ⚠
- p.Arg580Gln Single submitter ⚠
- p.Arg597Cys Single submitter ⚠
- p.Arg597His Single submitter ⚠
- p.Arg615Cys Single submitter Inborn genetic diseases ⚠
- p.Arg634Gly Single submitter ⚠
- p.Arg638His Single submitter ⚠
- p.Arg659His Single submitter Inborn genetic diseases ⚠
- p.Arg686Cys Single submitter Inborn genetic diseases ⚠
- p.Arg75Ter Single submitter
- p.Asn137Tyr Single submitter ⚠
- p.Asn189Ser Single submitter ⚠
- p.Asn287Ser Single submitter ⚠
- p.Asp115Glu Single submitter ⚠
- p.Asp115Tyr Single submitter ⚠
- p.Asp153Asn Single submitter Inborn genetic diseases ⚠
- p.Asp153Glu Single submitter ⚠
- p.Asp246His Single submitter ⚠
- p.Asp254Asn Single submitter ⚠
- p.Asp292Asn Single submitter Inborn genetic diseases ⚠
- p.Asp294Val Single submitter ⚠
- p.Asp374Asn Single submitter Inborn genetic diseases ⚠
- p.Asp385Gly Single submitter ⚠
- p.Asp484Val Single submitter autosomal recessive spinocerebellar ataxia 14 ⚠
- p.Asp556Asn Single submitter Inborn genetic diseases ⚠
- p.Asp556Glu Single submitter ⚠
- p.Cys114fs Single submitter
- p.Cys131Tyr Single submitter spinocerebellar ataxia type 14 ⚠
- p.Cys142Tyr Single submitter ⚠
- p.Cys150Arg Single submitter ⚠
- p.Cys150Trp Single submitter cerebellar ataxia ⚠
- p.Cys296Tyr Single submitter Inborn genetic diseases ⚠
- p.Cys52= Single submitter
- p.Cys52Arg Single submitter ⚠
- p.Cys52Phe Single submitter ⚠
- p.Cys77Arg Single submitter ⚠
- p.Cys85Phe Single submitter ⚠
- p.Gln210Glu Single submitter Inborn genetic diseases ⚠
- p.Gln552Glu Single submitter Inborn genetic diseases ⚠
- p.Gln565Glu Single submitter ⚠
- p.Glu399Gln Single submitter ⚠
- p.Gly14Glu Single submitter Inborn genetic diseases ⚠
- p.Gly151= Single submitter
- p.Gly159Arg Single submitter ⚠
- p.Gly23Glu Single submitter ⚠
- p.Gly340Glu Single submitter Inborn genetic diseases ⚠
- p.Gly409Arg Single submitter ⚠
- p.Gly450Asp Single submitter ⚠
- p.Gly500Ser Single submitter ⚠
- p.Gly509Arg Single submitter Inborn genetic diseases ⚠
- p.Gly517Arg Single submitter Inborn genetic diseases ⚠
- p.Gly58Asp Single submitter ⚠
- p.Gly604Arg Single submitter ⚠
- p.Gly640Cys Single submitter Inborn genetic diseases ⚠
- p.Gly672Ser Single submitter Inborn genetic diseases ⚠
- p.Gly87Asp Single submitter spinocerebellar ataxia type 14 ⚠
- p.His101Asn Single submitter ⚠
- p.His116Arg Single submitter autosomal dominant cerebellar ataxia ⚠
- p.His139Asn Single submitter ⚠
- p.His174Arg Single submitter ⚠
- p.His174Asp Single submitter spinocerebellar ataxia type 14 ⚠
- p.His174Tyr Single submitter Inborn genetic diseases ⚠
- p.His611Arg Single submitter Inborn genetic diseases ⚠
- p.His74Arg Single submitter ⚠
- p.His78= Single submitter spinocerebellar ataxia type 14
- p.Ile165Met Single submitter ⚠
- p.Ile173Ser Single submitter ⚠
- p.Ile466Thr Single submitter ⚠
- p.Ile608Thr Single submitter ⚠
- p.Ile627Ser Single submitter ⚠
- p.Leu121_His126dup Single submitter
- p.Leu121Pro Single submitter ⚠
- p.Leu405Arg Single submitter Inborn genetic diseases ⚠
- p.Leu430= Single submitter
- p.Leu449Arg Single submitter spinocerebellar ataxia type 14 ⚠
- p.Leu468Pro Single submitter ⚠
- p.Leu488Pro Single submitter ⚠
- p.Leu544= Single submitter
- p.Leu64Pro Single submitter ⚠
- p.Leu654= Single submitter spinocerebellar ataxia type 14
- p.Leu662Pro Single submitter ⚠
- p.Lys335Met Single submitter ⚠
- p.Met136Ile Single submitter Inborn genetic diseases ⚠
- p.Met186Val Single submitter ⚠
- p.Met1Val Single submitter
- p.Met355Val Single submitter Inborn genetic diseases ⚠
- p.Phe38= Single submitter
- p.Phe48Ser Single submitter ⚠
- p.Phe541Cys Single submitter ⚠
- p.Phe555= Single submitter spinocerebellar ataxia type 14
- p.Phe670fs Single submitter
- p.Pro111Ala Single submitter ⚠
- p.Pro111Leu Single submitter spinocerebellar ataxia type 14 ⚠
- p.Pro15fs Single submitter
- p.Pro289Leu Single submitter ⚠
- p.Pro319Thr Single submitter ⚠
- p.Pro325Leu Single submitter ⚠
- p.Pro331_Thr332insSerPro Single submitter
- p.Pro343Leu Single submitter ⚠
- p.Pro524Arg Single submitter spinocerebellar ataxia type 14 ⚠
- p.Pro531Arg Single submitter Inborn genetic diseases ⚠
- p.Pro602Ser Single submitter Inborn genetic diseases ⚠
- p.Pro635= Single submitter spinocerebellar ataxia type 14
- p.Pro635Leu Single submitter spinocerebellar ataxia type 14 ⚠
- p.Pro86Ala Single submitter ⚠
- p.Ser330Thr Single submitter ⚠
- p.Ser352Asn Single submitter ⚠
- p.Ser361Arg Single submitter ⚠
- p.Ser577Trp Single submitter ⚠
- p.Ser687Thr Single submitter Inborn genetic diseases ⚠
- p.Ser690Asn Single submitter ⚠
- p.Ser70_Cys77del Single submitter
- p.Thr112Ile Single submitter Inborn genetic diseases ⚠
- p.Thr169Arg Single submitter Inborn genetic diseases ⚠
- p.Thr332Pro Single submitter Inborn genetic diseases ⚠
- p.Thr518Ile Single submitter ⚠
- p.Thr571Ser Single submitter spinocerebellar ataxia type 14 ⚠
- p.Thr674Ser Single submitter PRKCG-related disorder ⚠
- p.Trp223Arg Single submitter spinocerebellar ataxia type 14 ⚠
- p.Tyr521= Single submitter
- p.Tyr532Cys Single submitter ⚠
- p.Val125Glu Single submitter ⚠
- p.Val236Ala Single submitter ⚠
- p.Val242Leu Single submitter Inborn genetic diseases ⚠
- p.Val263Ile Single submitter Inborn genetic diseases ⚠
- p.Val271Ala Single submitter Inborn genetic diseases ⚠
- p.Val288Met Single submitter Inborn genetic diseases ⚠
- p.Val33= Single submitter
- p.Val68Ile Single submitter ⚠
- p.Val694Ala Single submitter Inborn genetic diseases ⚠
- p.Val696Ala Single submitter Inborn genetic diseases ⚠
- p.Glu79Asp No assertion criteria PRKCG-related disorder ⚠
- p.Gly411Ala No assertion criteria spinocerebellar ataxia type 14 ⚠