PRKCD — 573 ClinVar variants

All ClinVar germline PRKCD variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 185 flagged for review →

11 Pathogenic · 7 Likely pathogenic · 18 Conflicting · 47 Benign · 12 Benign/Likely benign · 264 Likely benign · 214 Uncertain significance

Full PRKCD gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 185

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 7

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

PRKCD p.Ala23Val Conflicting Single submitter
Inborn genetic diseases
PRKCD p.Ala405Thr Conflicting Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Arg483Gln Conflicting Single submitter
Inborn genetic diseases
PRKCD p.Arg483Trp Conflicting Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Arg504Gln Conflicting Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Asn348Ser Conflicting Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Thr564Met Conflicting Single submitter
Inborn genetic diseases

Predicted LoF vs a conflicting call 1

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.

PRKCD p.Trp105Ter Conflicting Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD

Predictors lean, ClinVar uncertain 141

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

PRKCD p.Ala404Gly Uncertain significance Multiple submitters
Inborn genetic diseases
PRKCD p.Arg569His Uncertain significance Multiple submitters
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Arg615Met Uncertain significance Multiple submitters
Inborn genetic diseases
PRKCD p.Asn10Lys Uncertain significance Multiple submitters
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Asn267His Uncertain significance Multiple submitters
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Asn347Lys Uncertain significance Multiple submitters
Inborn genetic diseases
PRKCD p.Asn99Lys Uncertain significance Multiple submitters
Inborn genetic diseases
PRKCD p.Asp202Asn Uncertain significance Multiple submitters
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Asp303Gly Uncertain significance Multiple submitters
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Glu317Lys Uncertain significance Multiple submitters
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Gly206Ser Uncertain significance Multiple submitters
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Gly265Ser Uncertain significance Multiple submitters
Inborn genetic diseases
PRKCD p.Gly361Arg Uncertain significance Multiple submitters
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.His672Gln Uncertain significance Multiple submitters
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Leu611Met Uncertain significance Multiple submitters
Inborn genetic diseases
PRKCD p.Lys138Arg Uncertain significance Multiple submitters
Inborn genetic diseases
PRKCD p.Lys260Gln Uncertain significance Multiple submitters
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Lys576Arg Uncertain significance Multiple submitters
Inborn genetic diseases
PRKCD p.Pro309Ala Uncertain significance Multiple submitters
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Ser331Gly Uncertain significance Multiple submitters
Inborn genetic diseases
PRKCD p.Ser341Asn Uncertain significance Multiple submitters
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Thr211Ser Uncertain significance Multiple submitters
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Thr333Asn Uncertain significance Multiple submitters
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Thr594Ile Uncertain significance Multiple submitters
Inborn genetic diseases
PRKCD p.Tyr448Asn Uncertain significance Multiple submitters
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Val310Ile Uncertain significance Multiple submitters
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Val354Ile Uncertain significance Multiple submitters
Inborn genetic diseases
PRKCD p.Val68Ile Uncertain significance Multiple submitters
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Val86Met Uncertain significance Multiple submitters
Inborn genetic diseases
PRKCD p.Ala163Val Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Ala19Val Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Ala290Val Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Ala298Thr Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Ala323Pro Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Ala323Thr Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Ala323Val Uncertain significance Single submitter
PRKCD p.Ala405Ser Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Ala490Val Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Ala8Thr Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Arg132Cys Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Arg145Cys Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Arg216Gln Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Arg216Trp Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Arg224His Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Arg273Gln Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Arg297Lys Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Arg301Ile Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Arg399Pro Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Arg449Cys Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Arg504Leu Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Arg94Cys Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Asn193Ser Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Asn347Ser Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Asn407His Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Asn431Ser Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Asn478Ser Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Asn498Asp Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Asp135Glu Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Asp135Gly Uncertain significance Single submitter
Inborn genetic diseases
PRKCD p.Asp177Glu Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Asp329Gly Uncertain significance Single submitter
PRKCD p.Asp389Asn Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Asp482Gly Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Asp484Asn Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Asp577Asn Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Cys344Trp Uncertain significance Single submitter
Inborn genetic diseases
PRKCD p.Gln314Glu Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Glu20Asp Uncertain significance Single submitter
Inborn genetic diseases
PRKCD p.Glu22Lys Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Glu274Lys Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Glu373Gln Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Glu555Asp Uncertain significance Single submitter
Inborn genetic diseases
PRKCD p.Glu558Asp Uncertain significance Single submitter
PRKCD p.Glu558Lys Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Glu574Asp Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Glu65Asp Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Gly248Asp Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Gly311Glu Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Gly321Arg Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Gly332Glu Uncertain significance Single submitter
Inborn genetic diseases
PRKCD p.Gly335Ser Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Gly432Arg Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Ile148Val Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Ile204Asn Uncertain significance Single submitter
Inborn genetic diseases
PRKCD p.Ile227Thr Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Ile337Phe Uncertain significance Single submitter
Inborn genetic diseases
PRKCD p.Ile346Val Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Ile414Leu Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Ile470Val Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Ile599Met Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Ile606Val Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Ile63Val Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Leu368Met Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Leu368Val Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Leu480Pro Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Leu582Phe Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Lys149Arg Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Lys188Arg Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Lys234Arg Uncertain significance Single submitter
PRKCD p.Lys47Arg Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Lys47Asn Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Lys576Glu Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Lys96Arg Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Met239Val Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Met395Thr Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Met436Arg Uncertain significance Single submitter
Inborn genetic diseases
PRKCD p.Met436Leu Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Met51Thr Uncertain significance Single submitter
PRKCD p.Met51Val Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Phe139Leu Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Phe375Val Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Phe602Ser Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Pro230Leu Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Pro568Ser Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Ser130Phe Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Ser299Phe Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Ser341Gly Uncertain significance Single submitter
Inborn genetic diseases
PRKCD p.Ser342Ile Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Ser466Gly Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Ser546Phe Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Ser546Tyr Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Ser89Leu Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Thr141Ala Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Thr141Met Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Thr295Ile Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Thr588Ser Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Trp608Arg Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Val125Met Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Val235Ile Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Val276Leu Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Val294Ile Uncertain significance Single submitter
Inborn genetic diseases
PRKCD p.Val30Met Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Val322Gly Uncertain significance Single submitter
Inborn genetic diseases
PRKCD p.Val391Met Uncertain significance Single submitter
Inborn genetic diseases
PRKCD p.Val624Ala Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Val72Met Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Val84Leu Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Val84Met Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Val90Met Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Cys509Arg Uncertain significance No assertion criteria
PRKCD p.Gly248Ser Uncertain significance No assertion criteria
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD

Predictors split 36

The independent predictors disagree with each other — read with care.

PRKCD p.Ala195Val Uncertain significance Multiple submitters
Inborn genetic diseases
PRKCD p.Ala212Val Uncertain significance Multiple submitters
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Arg273Trp Uncertain significance Multiple submitters
Inborn genetic diseases
PRKCD p.Ala102Val Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Ala194Thr Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Ala194Val Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Ala212Thr Uncertain significance Single submitter
Inborn genetic diseases
PRKCD p.Ala2Val Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Arg444His Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Arg504Gly Uncertain significance Single submitter
Inborn genetic diseases
PRKCD p.Arg569Gly Uncertain significance Single submitter
PRKCD p.Asn183Lys Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Asn345Ile Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Asp551Gly Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Cys415Tyr Conflicting Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Glu373Gly Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Glu497Asp Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Gly15Ala Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Gly15Asp Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Gly501Arg Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Ile153Thr Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Ile204Phe Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Leu616Trp Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Lys31Asn Uncertain significance Single submitter
Inborn genetic diseases
PRKCD p.Lys353Asn Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Met395Ile Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Phe583Ile Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Phe9Leu Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Pro3Arg Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Pro601Ala Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Ser57Leu Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Thr209Ala Uncertain significance Single submitter
PRKCD p.Thr218Ala Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Thr411Ala Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Thr588Pro Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
PRKCD p.Val354Leu Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD

All PRKCD variants

Pathogenic 11

c.1352+1G>A Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Asp434fs Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Cys95Ter Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Gln191Ter Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Gln440Ter Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Met395fs Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Tyr514Ter Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.571+2dup No assertion criteria autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Asn214fs No assertion criteria autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Gln462Ter No assertion criteria autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Gly510Ser No assertion criteria autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD

Likely pathogenic 7

c.1743+2T>A Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.571+1G>A Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.657+1G>A Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.788-1G>T Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.788-2A>G Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Gln257Ter Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Gly358Asp Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD

Conflicting classifications of pathogenicity 18

c.1260+7G>A Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.657+3G>A Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.658-16_658-13dup Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.787+3G>A Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.889-9C>T Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Ala23Val Single submitter Inborn genetic diseases ⚠
p.Ala405Thr Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Arg483Gln Single submitter Inborn genetic diseases ⚠
p.Arg483Trp Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Arg504Gln Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Arg569Cys Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Arg614Trp Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Asn348Ser Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Cys415Tyr Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Gly210= Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Ser89= Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Thr564Met Single submitter Inborn genetic diseases ⚠
p.Trp105Ter Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠

Benign 47

c.1087-54G>T Multiple submitters
c.115+163C>T Multiple submitters
c.115+21C>G Multiple submitters autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.116-55C>G Multiple submitters
c.1260+123_1260+124insG Multiple submitters
c.1260+123dup Multiple submitters
c.1260+6C>T Multiple submitters autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.1260+88T>C Multiple submitters
c.1261-51G>A Multiple submitters
c.1352+54_1352+61del Multiple submitters
c.1415+92C>T Multiple submitters
c.1743+29_1743+33del Multiple submitters
c.1743+29T>G Multiple submitters autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.315+24GT[12] Multiple submitters
c.316-82C>A Multiple submitters
c.571+127A>C Multiple submitters
c.571+51G>A Multiple submitters
c.658-55A>G Multiple submitters
c.788-251C>T Multiple submitters
c.-19-208C>A Multiple submitters
c.-19-37C>T Multiple submitters
p.Cys247= Multiple submitters autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Val72Leu Multiple submitters autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.115+14C>G Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.1743+8C>T Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.315+178C>T Single submitter
c.315+24GT[11] Single submitter
c.315+24GT[13] Single submitter
c.315+28_315+29insGGTG Single submitter
c.315+30_315+31insCGTG Single submitter
c.315+30_315+31insGGTG Single submitter
c.315+32_315+33insCGTG Single submitter
c.315+32_315+33insGGTG Single submitter
c.315+34_315+35insCGTG Single submitter
c.315+34_315+35insGGTG Single submitter
c.315+36_315+37insCGTG Single submitter
c.315+36_315+37insGGTG Single submitter
c.315+37_315+38insTTGT Single submitter
c.315+38_315+39insGGTG Single submitter
c.315+40_315+41insCGTG Single submitter
c.315+42_315+43insGGTG Single submitter
c.315+43_315+44insGTCT Single submitter
c.658-9del Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.788-183AG[10] Single submitter
c.788-183dup Single submitter
c.-19-241C>T Single submitter
p.Ser304= Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD

Benign/Likely benign 12

c.1260+19G>A Multiple submitters autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.1415+19C>T Multiple submitters autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.1554+8G>A Multiple submitters autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.315+9C>A Multiple submitters autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.539+13C>T Multiple submitters autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Asp60= Multiple submitters autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Glu373= Multiple submitters autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Gly433= Multiple submitters autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Ile201= Multiple submitters autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Leu481= Multiple submitters autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Pro619= Multiple submitters autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Thr594= Multiple submitters autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD

Likely benign 264

c.1086+17G>A Multiple submitters autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.115+9G>A Multiple submitters autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.1415+7G>C Multiple submitters autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.1554+12C>T Multiple submitters autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.1554+7C>T Multiple submitters autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.1743+29_1743+38del Multiple submitters autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.315+15A>G Multiple submitters autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.315+16G>A Multiple submitters autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.377-12C>T Multiple submitters autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.539+9C>T Multiple submitters autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.657+15G>A Multiple submitters autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.658-5_658-2dup Multiple submitters autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.889-20C>G Multiple submitters autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.985+10G>T Multiple submitters autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.985+12T>G Multiple submitters autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.986-7C>T Multiple submitters autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Ala19= Multiple submitters autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Ala212= Multiple submitters autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Ala454= Multiple submitters autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Ala490= Multiple submitters autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Ala61= Multiple submitters autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Asp135= Multiple submitters autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Glu392= Multiple submitters autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Gly100= Multiple submitters autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.His231= Multiple submitters autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Ile227= Multiple submitters autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Leu447= Multiple submitters autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Lys199= Multiple submitters autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Phe139= Multiple submitters autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Phe316= Multiple submitters autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Phe500= Multiple submitters autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Phe557= Multiple submitters autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Thr211= Multiple submitters autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Thr58= Multiple submitters autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Tyr539= Multiple submitters autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.1086+10G>A Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.1086+16_1086+26del Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.1086+16C>T Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.1086+18G>A Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.1086+20C>T Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.1086+9T>C Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.1086+9T>G Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.1087-12T>A Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.1087-13G>A Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.1087-15G>A Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.1087-15G>T Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.1087-16C>G Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.1087-16C>T Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.1087-16del Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.115+17G>A Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.115+17G>C Single submitter
c.116-12G>A Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.116-17del Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.116-17G>A Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.116-7G>C Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.116-7G>T Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.1260+16G>C Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.1260+19_1260+34dup Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.1261-14C>A Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.1261-4C>G Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.1353-11C>T Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.1353-16C>A Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.1353-20T>C Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.1353-4C>T Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.1353-8_1353-7del Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.1415+11G>C Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.1415+15G>A Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.1415+9G>A Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.1554+13C>T Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.1554+14C>G Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.1554+8G>C Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.1555-11C>T Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.1555-12C>A Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.1555-14C>G Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.1555-17G>A Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.1555-4C>G Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.1555-5G>A Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.1555-6C>T Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.1555-8A>G Single submitter
c.1743+10CTGGG[5] Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.1743+14G>A Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.1743+17G>C Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.1743+20C>T Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.1743+29_1743+43del Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.1743+9C>T Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.1744-18G>T Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.1744-20G>C Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.1744-7G>A Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.1872+11C>G Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.1872+13G>A Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.1872+15C>T Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.1872+7G>A Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.315+10G>A Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.315+13C>T Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.315+14G>A Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.315+17C>T Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.315+18C>T Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.315+19G>A Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.315+7G>A Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.315+8G>T Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.315+9C>T Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.316-17C>A Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.316-4dup Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.316-7C>T Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.316-9C>G Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.377-18C>G Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.539+10G>A Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.539+11G>A Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.539+16G>A Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.539+18C>A Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.540-13T>A Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.540-17T>C Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.540-18C>T Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.540-20G>A Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.540-9G>C Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.571+15A>C Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.571+15A>G Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.571+17G>A Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.571+7G>A Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.572-20T>C Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.572-6T>C Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.572-8T>C Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.657+10G>A Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.657+10G>T Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.657+11G>C Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.657+13C>T Single submitter
c.657+14C>T Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.657+8T>C Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.658-11C>G Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.658-12C>A Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.658-14A>G Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.658-19G>A Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.787+14C>T Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.787+15G>A Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.787+15G>C Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.787+16C>A Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.788-11C>T Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.788-12C>T Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.788-14C>G Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.788-18G>A Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.788-19C>T Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.888+12C>T Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.888+19G>A Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.888+20A>T Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.889-11T>C Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.889-14T>C Single submitter
c.889-20C>A Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.889-4C>T Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.889-7T>C Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.985+13C>T Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.985+18G>A Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.985+19C>T Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.986-12T>A Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.986-16G>A Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.986-4G>A Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Ala2= Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Ala23= Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Ala288= Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Ala29= Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Ala298= Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Ala305= Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Ala35= Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Ala404= Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Ala450= Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Ala455= Single submitter
p.Ala505= Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Ala92= Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Arg132His Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Arg145= Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Arg300Gln Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Arg371= Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Arg444= Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Arg504= Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Arg67= Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Arg75= Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Asn158= Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Asn193= Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Asn226= Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Asn431= Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Asn596= Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Asp177= Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Asp21= Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Asp217= Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Asp388= Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Asp389= Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Asp390= Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Asp554= Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Cys189= Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Cys192= Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Cys264= Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Cys280= Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Gln221= Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Gln257= Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Gln46= Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Gln545= Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Glu103= Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Glu160= Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Glu325= Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Glu339= Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Glu79= Single submitter
p.Gly206= Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Gly248= Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Gly315= Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Gly432= Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Gly443= Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Gly522= Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Gly544= Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Gly592= Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.His486= Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Ile162= Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Ile205= Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Ile282= Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Ile387= Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Ile439= Single submitter
p.Ile515= Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Ile560= Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Ile597= Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Ile63= Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Ile7= Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Leu115= Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Leu250= Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Leu386= Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Leu401= Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Leu413= Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Leu423= Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Leu523= Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Leu73= Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Leu91= Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Lys128= Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Lys184= Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Lys343= Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Phe220= Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Phe243= Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Phe349= Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Phe351= Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Phe360= Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Phe534= Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Phe59= Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Pro140= Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Pro230= Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Pro3= Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Pro49= Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Pro547= Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Pro80= Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Ser359= Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Ser57= Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Thr141= Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Thr164= Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Thr218= Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Thr320= Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Thr402= Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Thr411= Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Thr564= Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Thr85= Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Tyr313= Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Tyr334= Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Val174= Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Val268= Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Val30= Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Val81= Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Val88= Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Asp228Asn No assertion criteria EBV-positive nodal T- and NK-cell lymphoma
p.Leu538= No assertion criteria PRKCD-related disorder
p.Phe165= No assertion criteria PRKCD-related disorder

Uncertain significance 214

c.787+4C>T Multiple submitters autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Ala195Val Multiple submitters Inborn genetic diseases ⚠
p.Ala212Val Multiple submitters autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Ala404Gly Multiple submitters Inborn genetic diseases ⚠
p.Ala454Thr Multiple submitters Inborn genetic diseases
p.Arg273Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg40His Multiple submitters Inborn genetic diseases
p.Arg444Cys Multiple submitters Inborn genetic diseases
p.Arg561His Multiple submitters Inborn genetic diseases
p.Arg569His Multiple submitters autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Arg615Met Multiple submitters Inborn genetic diseases ⚠
p.Asn10Lys Multiple submitters autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Asn267His Multiple submitters autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Asn347Lys Multiple submitters Inborn genetic diseases ⚠
p.Asn99Lys Multiple submitters Inborn genetic diseases ⚠
p.Asp202Asn Multiple submitters autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Asp303Gly Multiple submitters autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Glu317Lys Multiple submitters autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Gly206Ser Multiple submitters autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Gly265Ser Multiple submitters Inborn genetic diseases ⚠
p.Gly361Arg Multiple submitters autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Gly501Trp Multiple submitters autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.His672Gln Multiple submitters autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Leu611Met Multiple submitters Inborn genetic diseases ⚠
p.Lys138Arg Multiple submitters Inborn genetic diseases ⚠
p.Lys260Gln Multiple submitters autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Lys47Thr Multiple submitters autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Lys576Arg Multiple submitters Inborn genetic diseases ⚠
p.Phe351Val Multiple submitters autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Pro309Ala Multiple submitters autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Ser331Gly Multiple submitters Inborn genetic diseases ⚠
p.Ser341Asn Multiple submitters autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Thr211Ser Multiple submitters autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Thr333Asn Multiple submitters autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Thr594Ile Multiple submitters Inborn genetic diseases ⚠
p.Tyr448Asn Multiple submitters autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Val310Ile Multiple submitters autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Val354Ile Multiple submitters Inborn genetic diseases ⚠
p.Val68Ile Multiple submitters autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Val86Met Multiple submitters Inborn genetic diseases ⚠
c.115+20_115+21delinsTG Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.1260+3G>T Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.1352+4C>T Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.1415+4C>T Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.1415+5G>A Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.1743+10CTGGG[4] Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.1872+1G>A Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.377-10T>C Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.377-7T>A Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.657+6C>G Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.788-3C>T Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
c.888+11G>A Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Ala102Val Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Ala163Val Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Ala194Thr Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Ala194Val Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Ala19Val Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Ala212Thr Single submitter Inborn genetic diseases ⚠
p.Ala290Val Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Ala298Thr Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Ala2Val Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Ala323Pro Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Ala323Thr Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Ala323Val Single submitter ⚠
p.Ala405Ser Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Ala490Val Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Ala8Thr Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Arg132Cys Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Arg145Cys Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Arg216Gln Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Arg216Trp Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Arg224His Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Arg273Gln Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Arg297Lys Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Arg301Ile Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Arg399Pro Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Arg444His Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Arg449Cys Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Arg504Gly Single submitter Inborn genetic diseases ⚠
p.Arg504Leu Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Arg569= Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Arg569Gly Single submitter ⚠
p.Arg94Cys Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Asn183Lys Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Asn193Ser Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Asn345Ile Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Asn347Ser Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Asn407His Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Asn431Ser Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Asn478Ser Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Asn498Asp Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Asp135Glu Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Asp135Gly Single submitter Inborn genetic diseases ⚠
p.Asp177Glu Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Asp329Gly Single submitter ⚠
p.Asp389Asn Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Asp482Gly Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Asp484Asn Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Asp551Gly Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Asp577Asn Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Asp648Asn Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Cys344Trp Single submitter Inborn genetic diseases ⚠
p.Cys459Tyr Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Gln314Glu Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Glu20Asp Single submitter Inborn genetic diseases ⚠
p.Glu22Lys Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Glu274Lys Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Glu373Gln Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Glu373Gly Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Glu497Asp Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Glu555Asp Single submitter Inborn genetic diseases ⚠
p.Glu558Asp Single submitter ⚠
p.Glu558Lys Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Glu574Asp Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Glu65Asp Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Glu675Ter Single submitter
p.Gly15Ala Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Gly15Asp Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Gly248Asp Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Gly311Glu Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Gly321Arg Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Gly332Glu Single submitter Inborn genetic diseases ⚠
p.Gly335Ser Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Gly361= Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Gly432Arg Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Gly501Arg Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Gly595Glu Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.His422Tyr Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Ile148Val Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Ile153Thr Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Ile204Asn Single submitter Inborn genetic diseases ⚠
p.Ile204Phe Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Ile227Thr Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Ile337Phe Single submitter Inborn genetic diseases ⚠
p.Ile346Val Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Ile414Leu Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Ile470Val Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Ile599Met Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Ile606Val Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Ile63Val Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Leu182= Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Leu182Phe Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Leu368Met Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Leu368Val Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Leu480Pro Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Leu481Ser Single submitter
p.Leu582Phe Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Leu616Trp Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Lys149Arg Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Lys188Arg Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Lys234Arg Single submitter ⚠
p.Lys31Asn Single submitter Inborn genetic diseases ⚠
p.Lys353Asn Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Lys47Arg Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Lys47Asn Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Lys48del Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Lys576Glu Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Lys96Arg Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Met239Val Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Met395Ile Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Met395Thr Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Met436Arg Single submitter Inborn genetic diseases ⚠
p.Met436Leu Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Met51Thr Single submitter ⚠
p.Met51Val Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Phe139Leu Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Phe233_Lys234insAsnIleAspMetProHisArgPhe Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Phe375Val Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Phe583Ile Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Phe602Ser Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Phe9Leu Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Pro230Leu Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Pro3Arg Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Pro49Gln Single submitter Inborn genetic diseases
p.Pro568Ser Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Pro601Ala Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Ser130Phe Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Ser240Asn Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Ser299Phe Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Ser341Gly Single submitter Inborn genetic diseases ⚠
p.Ser342Ile Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Ser466Gly Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Ser546Phe Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Ser546Tyr Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Ser57Leu Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Ser89Leu Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Thr141Ala Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Thr141Met Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Thr209Ala Single submitter ⚠
p.Thr218Ala Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Thr295Ile Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Thr38= Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Thr394Ala Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Thr411Ala Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Thr588Pro Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Thr588Ser Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Thr594Met Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Trp608Arg Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Val125Met Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Val235Ile Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Val276Leu Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Val294Ile Single submitter Inborn genetic diseases ⚠
p.Val30Met Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Val322Gly Single submitter Inborn genetic diseases ⚠
p.Val354= Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
p.Val354Leu Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Val391Met Single submitter Inborn genetic diseases ⚠
p.Val624Ala Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Val72Met Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Val84Leu Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Val84Met Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Val90Met Single submitter autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠
p.Cys509Arg No assertion criteria ⚠
p.Gly248Ser No assertion criteria autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD ⚠