PPP3CA — 580 ClinVar variants
All ClinVar germline PPP3CA variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 200 flagged for review →
18 Pathogenic · 9 Pathogenic/Likely pathogenic · 20 Likely pathogenic · 8 Conflicting · 20 Benign · 15 Benign/Likely benign · 248 Likely benign · 242 Uncertain significance
Full PPP3CA gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 200
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 vs ClinVar 4
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
PPP3CA p.Ala447Thr
Pathogenic/Likely pathogenic
Multiple submitters
developmental and epileptic encephalopathy 91
-
PPP3CA p.Ala177Gly
Likely pathogenic
Single submitter
developmental and epileptic encephalopathy 91
-
PPP3CA p.Ala473Ser
Pathogenic
Single submitter
arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development
-
PPP3CA p.Asp493Asn
Likely pathogenic
Single submitter
developmental and epileptic encephalopathy 91
Predictors agree, ClinVar conflicts 4
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
PPP3CA p.Asn513Ser
Conflicting
Single submitter
developmental and epileptic encephalopathy 91
- PPP3CA p.Asp234His Conflicting Single submitter
-
PPP3CA p.Pro9Thr
Conflicting
Single submitter
arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development
-
PPP3CA p.Thr510Met
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 133
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PPP3CA p.Ala6Thr Uncertain significance Multiple submitters
-
PPP3CA p.Ala83Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PPP3CA p.Arg478Gln
Uncertain significance
Multiple submitters
developmental and epileptic encephalopathy 91
-
PPP3CA p.Asn37Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
- PPP3CA p.Glu3Asp Uncertain significance Multiple submitters
- PPP3CA p.Glu456Lys Uncertain significance Multiple submitters
- PPP3CA p.Glu67Asp Uncertain significance Multiple submitters
-
PPP3CA p.Gly383Val
Uncertain significance
Multiple submitters
developmental and epileptic encephalopathy 91
-
PPP3CA p.Ile277Val
Uncertain significance
Multiple submitters
arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development
-
PPP3CA p.Ile452Val
Uncertain significance
Multiple submitters
developmental and epileptic encephalopathy 91
- PPP3CA p.Ile7Thr Uncertain significance Multiple submitters
-
PPP3CA p.Ile7Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PPP3CA p.Lys219Arg
Uncertain significance
Multiple submitters
developmental and epileptic encephalopathy 91
-
PPP3CA p.Lys405Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PPP3CA p.Met179Val
Uncertain significance
Multiple submitters
arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development
-
PPP3CA p.Ser2Cys
Uncertain significance
Multiple submitters
PPP3CA-related disorder
- PPP3CA p.Ser515Cys Uncertain significance Multiple submitters
-
PPP3CA p.Thr422Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
- PPP3CA p.Val130Leu Uncertain significance Multiple submitters
-
PPP3CA p.Val34Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
- PPP3CA p.Val60Ile Uncertain significance Multiple submitters
- PPP3CA p.Ala177Asp Uncertain significance Single submitter
- PPP3CA p.Ala181Val Uncertain significance Single submitter
-
PPP3CA p.Ala20Val
Uncertain significance
Single submitter
developmental and epileptic encephalopathy 91
- PPP3CA p.Ala31Thr Uncertain significance Single submitter
- PPP3CA p.Ala387Thr Uncertain significance Single submitter
- PPP3CA p.Ala402Val Uncertain significance Single submitter
- PPP3CA p.Ala451Val Uncertain significance Single submitter
- PPP3CA p.Ala454Ser Uncertain significance Single submitter
- PPP3CA p.Ala489Ser Uncertain significance Single submitter
- PPP3CA p.Ala48Ser Uncertain significance Single submitter
- PPP3CA p.Ala494Ser Uncertain significance Single submitter
- PPP3CA p.Ala494Thr Uncertain significance Single submitter
-
PPP3CA p.Arg112Cys
Uncertain significance
Single submitter
developmental and epileptic encephalopathy 91
-
PPP3CA p.Arg112His
Uncertain significance
Single submitter
Inborn genetic diseases
- PPP3CA p.Arg148His Uncertain significance Single submitter
- PPP3CA p.Arg154Gly Uncertain significance Single submitter
- PPP3CA p.Arg173Ser Uncertain significance Single submitter
- PPP3CA p.Arg217Gln Uncertain significance Single submitter
- PPP3CA p.Arg279Gln Uncertain significance Single submitter
- PPP3CA p.Arg289Cys Uncertain significance Single submitter
- PPP3CA p.Arg289Ser Uncertain significance Single submitter
- PPP3CA p.Asn241His Uncertain significance Single submitter
- PPP3CA p.Asn310Asp Uncertain significance Single submitter
- PPP3CA p.Asn310Ile Uncertain significance Single submitter
-
PPP3CA p.Asn367Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- PPP3CA p.Asn37Asp Uncertain significance Single submitter
- PPP3CA p.Asn37Thr Uncertain significance Single submitter
- PPP3CA p.Asn495Ser Uncertain significance Single submitter
- PPP3CA p.Asn497Ile Uncertain significance Single submitter
- PPP3CA p.Asn497Lys Uncertain significance Single submitter
- PPP3CA p.Asn497Tyr Uncertain significance Single submitter
- PPP3CA p.Asp176Val Uncertain significance Single submitter
- PPP3CA p.Asp285His Uncertain significance Single submitter
- PPP3CA p.Asp313Gly Uncertain significance Single submitter
- PPP3CA p.Asp36Gly Uncertain significance Single submitter
- PPP3CA p.Asp493Glu Uncertain significance Single submitter
- PPP3CA p.Asp8Tyr Uncertain significance Single submitter
- PPP3CA p.Cys228Ser Uncertain significance Single submitter
- PPP3CA p.Cys266Ser Uncertain significance Single submitter
- PPP3CA p.Gln194Arg Uncertain significance Single submitter
- PPP3CA p.Gln74Glu Uncertain significance Single submitter
- PPP3CA p.Glu205Ala Uncertain significance Single submitter
- PPP3CA p.Glu33Gly Uncertain significance Single submitter
- PPP3CA p.Glu3Lys Uncertain significance Single submitter
- PPP3CA p.Glu415Gly Uncertain significance Single submitter
- PPP3CA p.Glu472Lys Uncertain significance Single submitter
- PPP3CA p.Glu506Gly Uncertain significance Single submitter
- PPP3CA p.Gly105Val Uncertain significance Single submitter
- PPP3CA p.Gly509Arg Uncertain significance Single submitter
- PPP3CA p.Gly509Ser Uncertain significance Single submitter
- PPP3CA p.His199Pro Uncertain significance Single submitter
- PPP3CA p.His271Arg Uncertain significance Single submitter
- PPP3CA p.His271Gln Uncertain significance Single submitter
- PPP3CA p.Ile127Val Uncertain significance Single submitter
- PPP3CA p.Ile230Thr Uncertain significance Single submitter
- PPP3CA p.Ile403Thr Uncertain significance Single submitter
- PPP3CA p.Ile520Met Uncertain significance Single submitter
- PPP3CA p.Ile520Ser Uncertain significance Single submitter
- PPP3CA p.Ile81Val Uncertain significance Single submitter
- PPP3CA p.Leu133Phe Uncertain significance Single submitter
- PPP3CA p.Leu139Ile Uncertain significance Single submitter
- PPP3CA p.Leu202Phe Uncertain significance Single submitter
-
PPP3CA p.Leu209Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- PPP3CA p.Leu236Val Uncertain significance Single submitter
- PPP3CA p.Leu29Pro Uncertain significance Single submitter
- PPP3CA p.Leu365Pro Uncertain significance Single submitter
- PPP3CA p.Leu413Pro Uncertain significance Single submitter
-
PPP3CA p.Leu476Ser
Uncertain significance
Single submitter
arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development
- PPP3CA p.Leu503Val Uncertain significance Single submitter
- PPP3CA p.Lys142Arg Uncertain significance Single submitter
- PPP3CA p.Lys214Arg Uncertain significance Single submitter
- PPP3CA p.Lys32Glu Uncertain significance Single submitter
- PPP3CA p.Lys459Arg Uncertain significance Single submitter
- PPP3CA p.Lys466Thr Uncertain significance Single submitter
- PPP3CA p.Lys474Thr Uncertain significance Single submitter
- PPP3CA p.Lys5Glu Uncertain significance Single submitter
- PPP3CA p.Met227Ile Uncertain significance Single submitter
- PPP3CA p.Met431Thr Uncertain significance Single submitter
- PPP3CA p.Met490Ile Uncertain significance Single submitter
- PPP3CA p.Met490Thr Uncertain significance Single submitter
- PPP3CA p.Phe125Leu Uncertain significance Single submitter
- PPP3CA p.Phe145Leu Uncertain significance Single submitter
-
PPP3CA p.Phe248Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- PPP3CA p.Pro226Ser Uncertain significance Single submitter
- PPP3CA p.Pro41Thr Uncertain significance Single submitter
- PPP3CA p.Pro463Arg Uncertain significance Single submitter
- PPP3CA p.Pro4His Uncertain significance Single submitter
-
PPP3CA p.Pro4Leu
Uncertain significance
Single submitter
developmental and epileptic encephalopathy 91
- PPP3CA p.Ser12Pro Uncertain significance Single submitter
-
PPP3CA p.Ser276Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- PPP3CA p.Ser294Asn Uncertain significance Single submitter
- PPP3CA p.Ser337Cys Uncertain significance Single submitter
- PPP3CA p.Ser379Ala Uncertain significance Single submitter
- PPP3CA p.Ser434Thr Uncertain significance Single submitter
- PPP3CA p.Ser498Thr Uncertain significance Single submitter
-
PPP3CA p.Ser505Pro
Uncertain significance
Single submitter
developmental and epileptic encephalopathy 91
- PPP3CA p.Ser512Arg Uncertain significance Single submitter
- PPP3CA p.Ser59Asn Uncertain significance Single submitter
- PPP3CA p.Ser59Thr Uncertain significance Single submitter
-
PPP3CA p.Thr13Pro
Uncertain significance
Single submitter
developmental and epileptic encephalopathy 91
- PPP3CA p.Thr143Ile Uncertain significance Single submitter
- PPP3CA p.Thr249Ser Uncertain significance Single submitter
- PPP3CA p.Thr252Arg Uncertain significance Single submitter
- PPP3CA p.Thr296Ser Uncertain significance Single submitter
-
PPP3CA p.Thr510Ala
Uncertain significance
Single submitter
developmental and epileptic encephalopathy 91
- PPP3CA p.Thr510Ser Uncertain significance Single submitter
- PPP3CA p.Tyr260Cys Uncertain significance Single submitter
-
PPP3CA p.Tyr315His
Uncertain significance
Single submitter
Inborn genetic diseases
- PPP3CA p.Val174Ala Uncertain significance Single submitter
- PPP3CA p.Val321Ile Uncertain significance Single submitter
- PPP3CA p.Val328Ala Uncertain significance Single submitter
- PPP3CA p.Val357Ala Uncertain significance Single submitter
Predictors split 59
The independent predictors disagree with each other — read with care.
- PPP3CA p.Ala48Val Uncertain significance Multiple submitters
- PPP3CA p.Arg173Cys Likely benign Multiple submitters
-
PPP3CA p.Arg28Gln
Uncertain significance
Multiple submitters
developmental and epileptic encephalopathy 91
-
PPP3CA p.Arg42Cys
Uncertain significance
Multiple submitters
developmental and epileptic encephalopathy 91
-
PPP3CA p.Arg42His
Uncertain significance
Multiple submitters
arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development
-
PPP3CA p.Arg73Gln
Uncertain significance
Multiple submitters
developmental and epileptic encephalopathy 91
-
PPP3CA p.Asp36Asn
Uncertain significance
Multiple submitters
PPP3CA-related disorder
- PPP3CA p.Glu471Lys Uncertain significance Multiple submitters
-
PPP3CA p.Lys142Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PPP3CA p.Phe470Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PPP3CA p.Pro263Leu
Uncertain significance
Multiple submitters
developmental and epileptic encephalopathy 91
-
PPP3CA p.Ser434Arg
Uncertain significance
Multiple submitters
arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development
-
PPP3CA p.Thr14Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
- PPP3CA p.Thr252Ala Uncertain significance Multiple submitters
-
PPP3CA p.Val253Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
- PPP3CA p.Ala286Ser Uncertain significance Single submitter
- PPP3CA p.Ala391Ser Uncertain significance Single submitter
- PPP3CA p.Ala457Pro Uncertain significance Single submitter
-
PPP3CA p.Ala473Thr
Pathogenic
Single submitter
arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development
- PPP3CA p.Ala61Thr Uncertain significance Single submitter
- PPP3CA p.Arg16Gly Uncertain significance Single submitter
- PPP3CA p.Arg173Leu Uncertain significance Single submitter
- PPP3CA p.Arg332Ser Uncertain significance Single submitter
- PPP3CA p.Arg414Gly Likely pathogenic Single submitter
- PPP3CA p.Arg486His Uncertain significance Single submitter
- PPP3CA p.Arg486Leu Uncertain significance Single submitter
- PPP3CA p.Asn316Ser Uncertain significance Single submitter
- PPP3CA p.Asn335Lys Uncertain significance Single submitter
- PPP3CA p.Asn398Lys Uncertain significance Single submitter
- PPP3CA p.Asp15Asn Uncertain significance Single submitter
- PPP3CA p.Asp382Tyr Uncertain significance Single submitter
-
PPP3CA p.Asp38Gly
Uncertain significance
Single submitter
PPP3CA-related disorder
-
PPP3CA p.Asp38Val
Uncertain significance
Single submitter
Developmental disorder
-
PPP3CA p.Asp44Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- PPP3CA p.Cys336Ser Uncertain significance Single submitter
- PPP3CA p.Gln193Arg Uncertain significance Single submitter
- PPP3CA p.Glu267Lys Uncertain significance Single submitter
- PPP3CA p.Glu282Gln Uncertain significance Single submitter
- PPP3CA p.Glu415Asp Uncertain significance Single submitter
- PPP3CA p.Gly425Ala Uncertain significance Single submitter
- PPP3CA p.Gly430Val Uncertain significance Single submitter
- PPP3CA p.His155Gln Uncertain significance Single submitter
- PPP3CA p.His49Gln Uncertain significance Single submitter
- PPP3CA p.Ile331Val Uncertain significance Single submitter
- PPP3CA p.Ile64Met Uncertain significance Single submitter
-
PPP3CA p.Ile71Val
Conflicting
Single submitter
Inborn genetic diseases
-
PPP3CA p.Leu50Val
Uncertain significance
Single submitter
Inborn genetic diseases
- PPP3CA p.Lys76Asn Uncertain significance Single submitter
- PPP3CA p.Met406Ile Uncertain significance Single submitter
- PPP3CA p.Pro141Arg Uncertain significance Single submitter
-
PPP3CA p.Pro25Leu
Uncertain significance
Single submitter
developmental and epileptic encephalopathy 91
- PPP3CA p.Ser294Thr Uncertain significance Single submitter
- PPP3CA p.Ser301Ala Uncertain significance Single submitter
- PPP3CA p.Thr13Met Uncertain significance Single submitter
- PPP3CA p.Thr66Arg Uncertain significance Single submitter
- PPP3CA p.Val174Ile Uncertain significance Single submitter
- PPP3CA p.Val17Leu Uncertain significance Single submitter
- PPP3CA p.Val409Met Uncertain significance Single submitter
- PPP3CA p.Val60Ala Uncertain significance Single submitter
All PPP3CA variants
Pathogenic 18
- p.Ser419fs Multiple submitters developmental and epileptic encephalopathy 91
- c.1340-1G>C Single submitter
- p.Ala447fs Single submitter developmental and epileptic encephalopathy 91
- p.Ala473Ser Single submitter arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development ⚠
- p.Ala473Thr Single submitter arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development ⚠
- p.Glu471Ter Single submitter
- p.Gly430fs Single submitter developmental and epileptic encephalopathy 91
- p.His151Asp Single submitter
- p.His92Asp Single submitter
- p.Ile452fs Single submitter developmental and epileptic encephalopathy 91
- p.Leu146fs Single submitter
- p.Phe306Cys Single submitter
- p.Ser417fs Single submitter
- p.Ser434fs Single submitter developmental and epileptic encephalopathy 91
- p.Ser446fs Single submitter developmental and epileptic encephalopathy 91
- p.Val420fs Single submitter developmental and epileptic encephalopathy 91
- p.Gln445Ter No assertion criteria developmental and epileptic encephalopathy 91
- p.Met431fs No assertion criteria developmental and epileptic encephalopathy 91
Pathogenic/Likely pathogenic 9
- c.1340-2A>G Multiple submitters
- p.Ala447Thr Multiple submitters developmental and epileptic encephalopathy 91 ⚠
- p.Arg254Ser Multiple submitters developmental and epileptic encephalopathy 91
- p.Asp234Glu Multiple submitters developmental and epileptic encephalopathy 91
- p.Glu282Lys Multiple submitters PPP3CA-related disorder
- p.Glu456Ter Multiple submitters
- p.His92Arg Multiple submitters Inborn genetic diseases
- p.Ser438fs Multiple submitters PPP3CA-related disorder
- p.Thr429fs Multiple submitters developmental and epileptic encephalopathy 91
Likely pathogenic 20
- c.1340-2A>C Single submitter developmental and epileptic encephalopathy 91
- c.259+1G>T Single submitter
- c.955+2T>C Single submitter
- p.Ala177Gly Single submitter developmental and epileptic encephalopathy 91 ⚠
- p.Arg254Gly Single submitter
- p.Arg414Gly Single submitter ⚠
- p.Asp118Asn Single submitter
- p.Asp118Gly Single submitter developmental and epileptic encephalopathy 91
- p.Asp493Asn Single submitter developmental and epileptic encephalopathy 91 ⚠
- p.His281Arg Single submitter PPP3CA-related disorder
- p.His281Gln Single submitter developmental and epileptic encephalopathy 91
- p.His465fs Single submitter
- p.Leu426fs Single submitter
- p.Lys459Ter Single submitter developmental and epileptic encephalopathy 91
- p.Phe160Leu Single submitter
- p.Pro108Ser Single submitter
- p.Ser12fs Single submitter developmental and epileptic encephalopathy 91
- p.Thr448fs Single submitter PPP3CA-related disorder
- p.Thr468fs Single submitter developmental and epileptic encephalopathy 91
- p.Tyr288Cys Single submitter
Conflicting classifications of pathogenicity 8
- c.1082-5T>G Single submitter developmental and epileptic encephalopathy 91
- c.956-17C>A Single submitter developmental and epileptic encephalopathy 91
- p.Asn513Ser Single submitter developmental and epileptic encephalopathy 91 ⚠
- p.Asp234His Single submitter ⚠
- p.Ile71Val Single submitter Inborn genetic diseases ⚠
- p.Phe115= Single submitter arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development
- p.Pro9Thr Single submitter arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development ⚠
- p.Thr510Met Single submitter Inborn genetic diseases ⚠
Benign 20
- c.259+79C>T Multiple submitters
- c.385-45G>A Multiple submitters
- c.59-50T>C Multiple submitters
- c.*74A>G Multiple submitters
- p.Ala83= Multiple submitters
- p.Leu365= Multiple submitters
- c.1157-103del Single submitter
- c.1340-178_1340-159del Single submitter
- c.1340-184T>G Single submitter
- c.260-12del Single submitter
- c.384+228C>T Single submitter
- c.497-191C>T Single submitter
- c.643-9T>G Single submitter
- c.956-13del Single submitter
- c.-108GCG[10] Single submitter
- c.-108GCG[11] Single submitter
- c.*42_*44del Single submitter
- c.*43_*44del Single submitter
- c.*44del Single submitter
- c.*7C>A Single submitter
Benign/Likely benign 15
- c.1156+15C>G Multiple submitters arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development
- c.1156+20G>C Multiple submitters developmental and epileptic encephalopathy 91
- c.1156+20G>T Multiple submitters developmental and epileptic encephalopathy 91
- c.1156+7G>T Multiple submitters developmental and epileptic encephalopathy 91
- c.1241+17T>C Multiple submitters arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development
- c.384+18C>T Multiple submitters arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development
- c.385-12del Multiple submitters
- c.496+11T>C Multiple submitters arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development
- c.643-6dup Multiple submitters
- c.782+14A>C Multiple submitters
- p.Asp97= Multiple submitters
- p.Gly475= Multiple submitters arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development
- p.Leu196= Multiple submitters developmental and epileptic encephalopathy 91
- p.Leu46= Multiple submitters arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development
- p.Ser462= Multiple submitters arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development
Likely benign 248
- c.1242-6_1242-3dup Multiple submitters
- c.1340-15C>T Multiple submitters
- c.497-20C>G Multiple submitters arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development
- c.58+16C>T Multiple submitters
- c.58+8G>A Multiple submitters
- c.783-7del Multiple submitters developmental and epileptic encephalopathy 91
- c.861-14T>A Multiple submitters arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development
- c.955+18C>A Multiple submitters developmental and epileptic encephalopathy 91
- c.955+18C>T Multiple submitters developmental and epileptic encephalopathy 91
- p.Ala181= Multiple submitters
- p.Ala31Ser Multiple submitters Inborn genetic diseases
- p.Arg173= Multiple submitters developmental and epileptic encephalopathy 91
- p.Arg173Cys Multiple submitters ⚠
- p.Arg173His Multiple submitters
- p.Arg408= Multiple submitters
- p.Asn317= Multiple submitters
- p.Gln193= Multiple submitters
- p.Glu380= Multiple submitters
- p.Glu394= Multiple submitters
- p.Leu156= Multiple submitters
- p.Leu29= Multiple submitters developmental and epileptic encephalopathy 91
- p.Leu476= Multiple submitters developmental and epileptic encephalopathy 91
- p.Phe470= Multiple submitters
- p.Pro186= Multiple submitters arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development
- p.Pro263= Multiple submitters
- p.Pro309= Multiple submitters
- p.Pro463= Multiple submitters arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development
- p.Thr304= Multiple submitters
- p.Thr510= Multiple submitters
- c.1081+10G>A Single submitter
- c.1081+14T>A Single submitter
- c.1081+19A>C Single submitter
- c.1081+20G>T Single submitter
- c.1082-10C>G Single submitter
- c.1082-10C>T Single submitter
- c.1082-13T>C Single submitter
- c.1082-15G>A Single submitter
- c.1082-19C>T Single submitter
- c.1082-7T>C Single submitter
- c.1082-9T>A Single submitter
- c.1156+8G>T Single submitter
- c.1157-13_1157-10del Single submitter
- c.1157-14G>A Single submitter
- c.1157-14G>T Single submitter
- c.1157-18C>T Single submitter
- c.1157-19A>G Single submitter
- c.1157-20A>G Single submitter
- c.1241+10T>A Single submitter
- c.1241+12C>T Single submitter
- c.1241+13G>A Single submitter
- c.1241+18_1241+19del Single submitter
- c.1241+19T>C Single submitter
- c.1241+7G>A Single submitter
- c.1242-11G>A Single submitter
- c.1242-17C>A Single submitter
- c.1242-7C>T Single submitter
- c.1340-18C>T Single submitter
- c.1340-19C>A Single submitter
- c.1340-19C>T Single submitter
- c.1340-20A>G Single submitter
- c.1340-5T>C Single submitter
- c.1369+10C>T Single submitter
- c.1369+13G>C Single submitter
- c.1369+15C>A Single submitter
- c.1369+17C>T Single submitter
- c.1369+18C>G Single submitter
- c.1369+9G>C Single submitter
- c.1370-20T>C Single submitter
- c.1370-6_1370-3dup Single submitter
- c.1370-8C>T Single submitter
- c.259+14A>T Single submitter
- c.259+20G>T Single submitter
- c.260-11G>C Single submitter
- c.260-13T>C Single submitter
- c.260-18G>C Single submitter
- c.260-20A>T Single submitter
- c.260-4del Single submitter
- c.260-7C>G Single submitter
- c.384+11A>G Single submitter
- c.384+14A>G Single submitter
- c.384+17T>G Single submitter
- c.384+19T>G Single submitter
- c.384+9A>G Single submitter
- c.385-13T>G Single submitter
- c.385-17_385-15del Single submitter
- c.385-20A>T Single submitter
- c.385-5C>T Single submitter
- c.496+11T>G Single submitter
- c.496+15A>G Single submitter
- c.496+9A>G Single submitter
- c.497-10C>T Single submitter
- c.497-14A>C Single submitter
- c.497-16T>G Single submitter
- c.497-5A>G Single submitter
- c.58+17G>T Single submitter
- c.58+18G>T Single submitter
- c.58+8del Single submitter
- c.58+9A>T Single submitter
- c.59-15C>A Single submitter
- c.59-16A>C Single submitter
- c.642+9T>C Single submitter
- c.643-11A>C Single submitter
- c.643-11A>G Single submitter
- c.643-9T>A Single submitter
- c.782+12G>C Single submitter
- c.782+7A>G Single submitter
- c.782+8T>C Single submitter
- c.783-11G>A Single submitter
- c.783-15_783-12del Single submitter
- c.783-18T>C Single submitter
- c.783-4G>A Single submitter
- c.783-6T>C Single submitter
- c.783-9C>G Single submitter
- c.860+18T>C Single submitter
- c.860+4_860+7dup Single submitter
- c.860+8G>A Single submitter
- c.861-8C>T Single submitter
- c.955+12T>A Single submitter
- c.955+13A>C Single submitter
- c.955+16T>C Single submitter
- c.955+7G>A Single submitter
- c.956-18del Single submitter
- c.956-20C>T Single submitter
- c.*8C>T Single submitter
- p.Ala135= Single submitter
- p.Ala188= Single submitter
- p.Ala264= Single submitter
- p.Ala283= Single submitter
- p.Ala320= Single submitter
- p.Ala387= Single submitter
- p.Ala402= Single submitter
- p.Ala451= Single submitter
- p.Ala454= Single submitter
- p.Ala48= Single submitter
- p.Ala502= Single submitter
- p.Ala6= Single submitter
- p.Ala61= Single submitter
- p.Ala69= Single submitter
- p.Arg112= Single submitter
- p.Arg122= Single submitter
- p.Arg148= Single submitter
- p.Arg154= Single submitter
- p.Arg254= Single submitter
- p.Arg397= Single submitter
- p.Arg401= Single submitter
- p.Asn150= Single submitter
- p.Asn272= Single submitter
- p.Asn273= Single submitter
- p.Asn310= Single submitter
- p.Asn327= Single submitter
- p.Asn367= Single submitter
- p.Asn508= Single submitter
- p.Asn513= Single submitter
- p.Asn513fs Single submitter autism spectrum disorder
- p.Asp210= Single submitter
- p.Asp455= Single submitter
- p.Asp493= Single submitter
- p.Asp90= Single submitter
- p.Cys372= Single submitter
- p.Cys88= Single submitter
- p.Gln445= Single submitter
- p.Gln464= Single submitter
- p.Gln521= Single submitter
- p.Glu152= Single submitter
- p.Glu267= Single submitter
- p.Glu3= Single submitter
- p.Glu359= Single submitter
- p.Glu416= Single submitter
- p.Glu472= Single submitter
- p.Gly117= Single submitter
- p.Gly123= Single submitter
- p.Gly255= Single submitter
- p.Gly298= Single submitter
- p.Gly378= Single submitter
- p.Gly39= Single submitter
- p.Gly68= Single submitter
- p.Gly89= Single submitter
- p.His250= Single submitter
- p.His27= Single submitter
- p.His281= Single submitter
- p.His49= Single submitter
- p.Ile127= Single submitter
- p.Ile206= Single submitter
- p.Ile212= Single submitter
- p.Ile331= Single submitter
- p.Ile499= Single submitter
- p.Ile81= Single submitter
- p.Leu136= Single submitter
- p.Leu139= Single submitter
- p.Leu187= Single submitter
- p.Leu236= Single submitter
- p.Leu274= Single submitter
- p.Leu278= Single submitter
- p.Leu302= Single submitter
- p.Leu322= Single submitter
- p.Leu369= Single submitter
- p.Leu377= Single submitter
- p.Leu413= Single submitter
- p.Leu421= Single submitter
- p.Leu437= Single submitter
- p.Leu50= Single submitter
- p.Leu503= Single submitter
- p.Leu56= Single submitter
- p.Leu62= Single submitter
- p.Leu72= Single submitter
- p.Lys142= Single submitter
- p.Lys167= Single submitter
- p.Lys219= Single submitter
- p.Lys399= Single submitter
- p.Phe248= Single submitter
- p.Phe299= Single submitter
- p.Phe346= Single submitter
- p.Pro226= Single submitter
- p.Pro4= Single submitter
- p.Pro41= Single submitter
- p.Pro484= Single submitter
- p.Pro491= Single submitter
- p.Pro9= Single submitter
- p.Ser12= Single submitter
- p.Ser171= Single submitter
- p.Ser203= Single submitter
- p.Ser257= Single submitter
- p.Ser434= Single submitter
- p.Ser438= Single submitter
- p.Ser446= Single submitter
- p.Ser515Asn Single submitter Developmental disorder
- p.Ser517= Single submitter
- p.Thr143= Single submitter
- p.Thr161= Single submitter
- p.Thr296= Single submitter
- p.Thr297= Single submitter
- p.Thr30Ile Single submitter
- p.Thr351= Single submitter
- p.Thr422= Single submitter
- p.Tyr262= Single submitter
- p.Tyr291= Single submitter
- p.Tyr311= Single submitter
- p.Tyr315= Single submitter
- p.Val104= Single submitter
- p.Val18= Single submitter
- p.Val314= Single submitter
- p.Val349= Single submitter
- p.Val361= Single submitter
- p.Val395= Single submitter
- p.Val409= Single submitter
- p.Val420= Single submitter
- p.Arg55= No assertion criteria PPP3CA-related disorder
- p.Val174= No assertion criteria PPP3CA-related disorder
Uncertain significance 242
- c.1081+4T>A Multiple submitters
- c.1156+3A>G Multiple submitters
- c.1242-14_1242-12del Multiple submitters
- c.860+3G>A Multiple submitters developmental and epileptic encephalopathy 91
- p.Ala48Val Multiple submitters ⚠
- p.Ala6Thr Multiple submitters ⚠
- p.Ala83Val Multiple submitters Inborn genetic diseases ⚠
- p.Arg28Gln Multiple submitters developmental and epileptic encephalopathy 91 ⚠
- p.Arg28Trp Multiple submitters arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development
- p.Arg42Cys Multiple submitters developmental and epileptic encephalopathy 91 ⚠
- p.Arg42His Multiple submitters arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development ⚠
- p.Arg478Gln Multiple submitters developmental and epileptic encephalopathy 91 ⚠
- p.Arg73Gln Multiple submitters developmental and epileptic encephalopathy 91 ⚠
- p.Asn37Lys Multiple submitters Inborn genetic diseases ⚠
- p.Asp36Asn Multiple submitters PPP3CA-related disorder ⚠
- p.Glu3Asp Multiple submitters ⚠
- p.Glu456Lys Multiple submitters ⚠
- p.Glu471Lys Multiple submitters ⚠
- p.Glu67Asp Multiple submitters ⚠
- p.Gly383Val Multiple submitters developmental and epileptic encephalopathy 91 ⚠
- p.Gly509= Multiple submitters
- p.Ile277Val Multiple submitters arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development ⚠
- p.Ile452Val Multiple submitters developmental and epileptic encephalopathy 91 ⚠
- p.Ile7Thr Multiple submitters ⚠
- p.Ile7Val Multiple submitters Inborn genetic diseases ⚠
- p.Lys142Glu Multiple submitters Inborn genetic diseases ⚠
- p.Lys219Arg Multiple submitters developmental and epileptic encephalopathy 91 ⚠
- p.Lys405Arg Multiple submitters Inborn genetic diseases ⚠
- p.Met179Val Multiple submitters arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development ⚠
- p.Phe470Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro263Leu Multiple submitters developmental and epileptic encephalopathy 91 ⚠
- p.Ser2Cys Multiple submitters PPP3CA-related disorder ⚠
- p.Ser434Arg Multiple submitters arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development ⚠
- p.Ser515Cys Multiple submitters ⚠
- p.Thr14Ile Multiple submitters Inborn genetic diseases ⚠
- p.Thr252Ala Multiple submitters ⚠
- p.Thr422Met Multiple submitters Inborn genetic diseases ⚠
- p.Val130Leu Multiple submitters ⚠
- p.Val253Ile Multiple submitters Inborn genetic diseases ⚠
- p.Val34Gly Multiple submitters Inborn genetic diseases ⚠
- p.Val60Ile Multiple submitters ⚠
- c.1082-10CT[2] Single submitter
- c.1082-3T>C Single submitter
- c.1156+4A>G Single submitter
- c.1156+9C>T Single submitter developmental and epileptic encephalopathy 91
- c.1241+3G>T Single submitter
- c.1242-13T>G Single submitter Inborn genetic diseases
- c.1339+2_1339+5dup Single submitter
- c.1370-8C>G Single submitter
- c.259+17G>T Single submitter
- c.259+3A>G Single submitter
- c.259+4A>G Single submitter
- c.385-3C>T Single submitter
- c.58+42297A>C Single submitter developmental and epileptic encephalopathy 91
- c.58+4A>G Single submitter
- c.58+4A>T Single submitter
- c.58+6C>T Single submitter
- c.59-12350G>A Single submitter developmental and epileptic encephalopathy 91
- c.59-16_59-15delinsTA Single submitter developmental and epileptic encephalopathy 91
- c.782+3A>G Single submitter
- c.860+6C>A Single submitter
- c.955+5G>A Single submitter
- c.*2C>T Single submitter developmental and epileptic encephalopathy 91
- p.Ala177Asp Single submitter ⚠
- p.Ala181Gly Single submitter
- p.Ala181Val Single submitter ⚠
- p.Ala20Val Single submitter developmental and epileptic encephalopathy 91 ⚠
- p.Ala223Pro Single submitter
- p.Ala286Ser Single submitter ⚠
- p.Ala286Thr Single submitter
- p.Ala31Thr Single submitter ⚠
- p.Ala387Thr Single submitter ⚠
- p.Ala390Leu Single submitter
- p.Ala391Ser Single submitter ⚠
- p.Ala402Val Single submitter ⚠
- p.Ala451Val Single submitter ⚠
- p.Ala454Ser Single submitter ⚠
- p.Ala457Pro Single submitter ⚠
- p.Ala489Ser Single submitter ⚠
- p.Ala48Ser Single submitter ⚠
- p.Ala494Ser Single submitter ⚠
- p.Ala494Thr Single submitter ⚠
- p.Ala61Thr Single submitter ⚠
- p.Arg112Cys Single submitter developmental and epileptic encephalopathy 91 ⚠
- p.Arg112His Single submitter Inborn genetic diseases ⚠
- p.Arg148His Single submitter ⚠
- p.Arg154Gly Single submitter ⚠
- p.Arg16Gly Single submitter ⚠
- p.Arg173Leu Single submitter ⚠
- p.Arg173Ser Single submitter ⚠
- p.Arg217Gln Single submitter ⚠
- p.Arg279Gln Single submitter ⚠
- p.Arg289Cys Single submitter ⚠
- p.Arg289Ser Single submitter ⚠
- p.Arg332Ser Single submitter ⚠
- p.Arg482_Met483insArg Single submitter
- p.Arg486His Single submitter ⚠
- p.Arg486Leu Single submitter ⚠
- p.Asn241His Single submitter ⚠
- p.Asn310Asp Single submitter ⚠
- p.Asn310Ile Single submitter ⚠
- p.Asn316Ser Single submitter ⚠
- p.Asn335Lys Single submitter ⚠
- p.Asn367Ser Single submitter Inborn genetic diseases ⚠
- p.Asn37Asp Single submitter ⚠
- p.Asn37Thr Single submitter ⚠
- p.Asn398Lys Single submitter ⚠
- p.Asn495Ser Single submitter ⚠
- p.Asn497Ile Single submitter ⚠
- p.Asn497Lys Single submitter ⚠
- p.Asn497Tyr Single submitter ⚠
- p.Asn513_Gly514insAspSerAsn Single submitter
- p.Asp15Asn Single submitter ⚠
- p.Asp176dup Single submitter
- p.Asp176Val Single submitter ⚠
- p.Asp210Gly Single submitter
- p.Asp285His Single submitter ⚠
- p.Asp313Gly Single submitter ⚠
- p.Asp36Gly Single submitter ⚠
- p.Asp382Tyr Single submitter ⚠
- p.Asp38Gly Single submitter PPP3CA-related disorder ⚠
- p.Asp38Val Single submitter Developmental disorder ⚠
- p.Asp44Asn Single submitter Inborn genetic diseases ⚠
- p.Asp493Glu Single submitter ⚠
- p.Asp8Tyr Single submitter ⚠
- p.Cys228Ser Single submitter ⚠
- p.Cys266Ser Single submitter ⚠
- p.Cys336Ser Single submitter ⚠
- p.Gln193Arg Single submitter ⚠
- p.Gln194Arg Single submitter ⚠
- p.Gln74Glu Single submitter ⚠
- p.Gln94Ter Single submitter
- p.Glu165= Single submitter
- p.Glu205Ala Single submitter ⚠
- p.Glu267Lys Single submitter ⚠
- p.Glu282Gln Single submitter ⚠
- p.Glu33Gly Single submitter ⚠
- p.Glu3Lys Single submitter ⚠
- p.Glu415Asp Single submitter ⚠
- p.Glu415Gly Single submitter ⚠
- p.Glu416_Ser417insGlu Single submitter arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development
- p.Glu450= Single submitter
- p.Glu472Lys Single submitter ⚠
- p.Glu506Gly Single submitter ⚠
- p.Gly105Val Single submitter ⚠
- p.Gly39Arg Single submitter
- p.Gly425Ala Single submitter ⚠
- p.Gly430Val Single submitter ⚠
- p.Gly509Arg Single submitter ⚠
- p.Gly509Ser Single submitter ⚠
- p.His155Gln Single submitter ⚠
- p.His199Pro Single submitter ⚠
- p.His247Arg Single submitter
- p.His271Arg Single submitter ⚠
- p.His271Asp Single submitter
- p.His271Gln Single submitter ⚠
- p.His49Gln Single submitter ⚠
- p.Ile127Val Single submitter ⚠
- p.Ile230Thr Single submitter ⚠
- p.Ile277Met Single submitter Inborn genetic diseases
- p.Ile331Val Single submitter ⚠
- p.Ile403Thr Single submitter ⚠
- p.Ile499_Asn500insIle Single submitter
- p.Ile520Met Single submitter ⚠
- p.Ile520Ser Single submitter ⚠
- p.Ile64Met Single submitter ⚠
- p.Ile81Val Single submitter ⚠
- p.Leu133Phe Single submitter ⚠
- p.Leu139His Single submitter
- p.Leu139Ile Single submitter ⚠
- p.Leu190= Single submitter developmental and epileptic encephalopathy 91
- p.Leu202Phe Single submitter ⚠
- p.Leu209Ser Single submitter Inborn genetic diseases ⚠
- p.Leu236Val Single submitter ⚠
- p.Leu29Pro Single submitter ⚠
- p.Leu365Pro Single submitter ⚠
- p.Leu413Pro Single submitter ⚠
- p.Leu476Ser Single submitter arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development ⚠
- p.Leu503Val Single submitter ⚠
- p.Leu50Val Single submitter Inborn genetic diseases ⚠
- p.Lys142Arg Single submitter ⚠
- p.Lys214Arg Single submitter ⚠
- p.Lys32Glu Single submitter ⚠
- p.Lys459Arg Single submitter ⚠
- p.Lys466fs Single submitter developmental and epileptic encephalopathy 91
- p.Lys466Thr Single submitter ⚠
- p.Lys474Thr Single submitter ⚠
- p.Lys5Glu Single submitter ⚠
- p.Lys76Asn Single submitter ⚠
- p.Met227Ile Single submitter ⚠
- p.Met406Ile Single submitter ⚠
- p.Met431Thr Single submitter ⚠
- p.Met490Ile Single submitter ⚠
- p.Met490Thr Single submitter ⚠
- p.Phe125Leu Single submitter ⚠
- p.Phe145Leu Single submitter ⚠
- p.Phe248Tyr Single submitter Inborn genetic diseases ⚠
- p.Pro141Arg Single submitter ⚠
- p.Pro226Ser Single submitter ⚠
- p.Pro25Leu Single submitter developmental and epileptic encephalopathy 91 ⚠
- p.Pro41Thr Single submitter ⚠
- p.Pro463Arg Single submitter ⚠
- p.Pro4His Single submitter ⚠
- p.Pro4Leu Single submitter developmental and epileptic encephalopathy 91 ⚠
- p.Ser12del Single submitter
- p.Ser12Pro Single submitter ⚠
- p.Ser233Ter Single submitter developmental and epileptic encephalopathy 91
- p.Ser276Ala Single submitter Inborn genetic diseases ⚠
- p.Ser294Asn Single submitter ⚠
- p.Ser294Thr Single submitter ⚠
- p.Ser301Ala Single submitter ⚠
- p.Ser337Cys Single submitter ⚠
- p.Ser379Ala Single submitter ⚠
- p.Ser419Cys Single submitter
- p.Ser434Thr Single submitter ⚠
- p.Ser498Thr Single submitter ⚠
- p.Ser505Pro Single submitter developmental and epileptic encephalopathy 91 ⚠
- p.Ser512Arg Single submitter ⚠
- p.Ser518del Single submitter
- p.Ser59Asn Single submitter ⚠
- p.Ser59Thr Single submitter ⚠
- p.Thr13Met Single submitter ⚠
- p.Thr13Pro Single submitter developmental and epileptic encephalopathy 91 ⚠
- p.Thr143Ile Single submitter ⚠
- p.Thr208Ile Single submitter
- p.Thr249Ser Single submitter ⚠
- p.Thr252Arg Single submitter ⚠
- p.Thr296Ser Single submitter ⚠
- p.Thr510Ala Single submitter developmental and epileptic encephalopathy 91 ⚠
- p.Thr510Ser Single submitter ⚠
- p.Thr66Arg Single submitter ⚠
- p.Tyr260Cys Single submitter ⚠
- p.Tyr315His Single submitter Inborn genetic diseases ⚠
- p.Val174Ala Single submitter ⚠
- p.Val174Ile Single submitter ⚠
- p.Val17Leu Single submitter ⚠
- p.Val321Ile Single submitter ⚠
- p.Val328Ala Single submitter ⚠
- p.Val357Ala Single submitter ⚠
- p.Val409Met Single submitter ⚠
- p.Val60Ala Single submitter ⚠
- p.Arg254fs No assertion criteria Seizure