PPP2R1A — 564 ClinVar variants
All ClinVar germline PPP2R1A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 203 flagged for review →
5 Pathogenic · 8 Pathogenic/Likely pathogenic · 10 Likely pathogenic · 21 Conflicting · 27 Benign · 8 Benign/Likely benign · 289 Likely benign · 196 Uncertain significance
Full PPP2R1A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 203
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 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
PPP2R1A p.Val334Leu
Likely pathogenic
Single submitter
Houge-Janssens syndrome 2
Predictors agree, ClinVar conflicts 14
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
PPP2R1A p.Ala164Val
Conflicting
Single submitter
Inborn genetic diseases
- PPP2R1A p.Ala232Thr Conflicting Single submitter
-
PPP2R1A p.Arg144Cys
Conflicting
Single submitter
Houge-Janssens syndrome 2
- PPP2R1A p.Arg420Trp Conflicting Single submitter
- PPP2R1A p.Asp336Asn Conflicting Single submitter
-
PPP2R1A p.Glu118Lys
Conflicting
Single submitter
Houge-Janssens syndrome 2
- PPP2R1A p.Glu410Val Conflicting Single submitter
-
PPP2R1A p.Gly491Arg
Conflicting
Single submitter
Inborn genetic diseases
-
PPP2R1A p.Ile505Val
Conflicting
Single submitter
Inborn genetic diseases
-
PPP2R1A p.Leu583Met
Conflicting
Single submitter
Houge-Janssens syndrome 2
-
PPP2R1A p.Ser203Cys
Conflicting
Single submitter
Inborn genetic diseases
-
PPP2R1A p.Ser203Gly
Conflicting
Single submitter
Inborn genetic diseases
-
PPP2R1A p.Ser219Pro
Conflicting
Single submitter
Houge-Janssens syndrome 2
-
PPP2R1A p.Val259Ile
Conflicting
Single submitter
Houge-Janssens syndrome 2
Predictors lean, ClinVar uncertain 102
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
PPP2R1A p.Ala589Thr
Uncertain significance
Multiple submitters
Houge-Janssens syndrome 2
-
PPP2R1A p.Arg221Trp
Uncertain significance
Multiple submitters
Houge-Janssens syndrome 2
-
PPP2R1A p.Gln557His
Uncertain significance
Multiple submitters
Inborn genetic diseases
- PPP2R1A p.Gly190Trp Uncertain significance Multiple submitters
-
PPP2R1A p.Ile115Val
Uncertain significance
Multiple submitters
Houge-Janssens syndrome 2
-
PPP2R1A p.Leu487Ser
Uncertain significance
Multiple submitters
Houge-Janssens syndrome 2
- PPP2R1A p.Lys468Arg Uncertain significance Multiple submitters
-
PPP2R1A p.Lys475Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PPP2R1A p.Pro276Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
- PPP2R1A p.Thr281Ile Uncertain significance Multiple submitters
- PPP2R1A p.Thr78Pro Uncertain significance Multiple submitters
- PPP2R1A p.Val158Ala Uncertain significance Multiple submitters
- PPP2R1A p.Ala161Ser Uncertain significance Single submitter
- PPP2R1A p.Ala161Val Uncertain significance Single submitter
- PPP2R1A p.Ala232Ser Uncertain significance Single submitter
- PPP2R1A p.Ala232Val Uncertain significance Single submitter
- PPP2R1A p.Ala301Thr Uncertain significance Single submitter
- PPP2R1A p.Ala302Thr Uncertain significance Single submitter
- PPP2R1A p.Ala346Val Uncertain significance Single submitter
- PPP2R1A p.Ala39Thr Uncertain significance Single submitter
- PPP2R1A p.Ala415Ser Uncertain significance Single submitter
- PPP2R1A p.Ala415Thr Uncertain significance Single submitter
- PPP2R1A p.Ala462Pro Uncertain significance Single submitter
- PPP2R1A p.Arg105Trp Uncertain significance Single submitter
-
PPP2R1A p.Arg113Trp
Uncertain significance
Single submitter
Houge-Janssens syndrome 2
- PPP2R1A p.Arg28His Uncertain significance Single submitter
-
PPP2R1A p.Arg381Trp
Uncertain significance
Single submitter
Inborn genetic diseases
- PPP2R1A p.Arg398Gln Uncertain significance Single submitter
-
PPP2R1A p.Arg418Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- PPP2R1A p.Arg420Gln Uncertain significance Single submitter
- PPP2R1A p.Arg459Cys Uncertain significance Single submitter
- PPP2R1A p.Arg459His Uncertain significance Single submitter
- PPP2R1A p.Arg498Cys Uncertain significance Single submitter
- PPP2R1A p.Asn211His Uncertain significance Single submitter
- PPP2R1A p.Asn211Ser Uncertain significance Single submitter
- PPP2R1A p.Asn506Ser Uncertain significance Single submitter
- PPP2R1A p.Asp106Gly Uncertain significance Single submitter
- PPP2R1A p.Asp176His Uncertain significance Single submitter
- PPP2R1A p.Asp199Asn Uncertain significance Single submitter
- PPP2R1A p.Asp336Glu Uncertain significance Single submitter
-
PPP2R1A p.Asp336His
Uncertain significance
Single submitter
Houge-Janssens syndrome 2
- PPP2R1A p.Asp389Gly Uncertain significance Single submitter
- PPP2R1A p.Asp453His Uncertain significance Single submitter
-
PPP2R1A p.Asp5Glu
Uncertain significance
Single submitter
Houge-Janssens syndrome 2
-
PPP2R1A p.Gln26Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- PPP2R1A p.Gln569Arg Uncertain significance Single submitter
- PPP2R1A p.Gln571Arg Uncertain significance Single submitter
- PPP2R1A p.Gln571Pro Uncertain significance Single submitter
- PPP2R1A p.Glu165Asp Uncertain significance Single submitter
- PPP2R1A p.Glu238Gly Uncertain significance Single submitter
- PPP2R1A p.Glu308Asp Uncertain significance Single submitter
- PPP2R1A p.Glu311Asp Uncertain significance Single submitter
- PPP2R1A p.Glu363Gly Uncertain significance Single submitter
- PPP2R1A p.Gly6Ser Uncertain significance Single submitter
-
PPP2R1A p.His117Asp
Uncertain significance
Single submitter
Houge-Janssens syndrome 2
- PPP2R1A p.His340Arg Uncertain significance Single submitter
- PPP2R1A p.His340Leu Uncertain significance Single submitter
- PPP2R1A p.His479Arg Uncertain significance Single submitter
- PPP2R1A p.Ile17Thr Uncertain significance Single submitter
- PPP2R1A p.Ile330Val Uncertain significance Single submitter
- PPP2R1A p.Ile397Thr Uncertain significance Single submitter
-
PPP2R1A p.Ile482Val
Uncertain significance
Single submitter
Inborn genetic diseases
- PPP2R1A p.Ile483Leu Uncertain significance Single submitter
- PPP2R1A p.Leu20Pro Uncertain significance Single submitter
-
PPP2R1A p.Leu429Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
PPP2R1A p.Leu496Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- PPP2R1A p.Leu588Val Uncertain significance Single submitter
- PPP2R1A p.Lys280Arg Uncertain significance Single submitter
- PPP2R1A p.Lys416Arg Uncertain significance Single submitter
- PPP2R1A p.Lys467Arg Uncertain significance Single submitter
- PPP2R1A p.Met291Leu Uncertain significance Single submitter
- PPP2R1A p.Met489Lys Uncertain significance Single submitter
- PPP2R1A p.Met489Thr Uncertain significance Single submitter
- PPP2R1A p.Met499Val Uncertain significance Single submitter
- PPP2R1A p.Phe438Leu Uncertain significance Single submitter
- PPP2R1A p.Phe439Leu Uncertain significance Single submitter
-
PPP2R1A p.Pro246Arg
Uncertain significance
Single submitter
Houge-Janssens syndrome 2
- PPP2R1A p.Pro276Thr Uncertain significance Single submitter
- PPP2R1A p.Pro484Ser Uncertain significance Single submitter
-
PPP2R1A p.Pro53Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- PPP2R1A p.Ser120Leu Uncertain significance Single submitter
- PPP2R1A p.Ser143Pro Uncertain significance Single submitter
-
PPP2R1A p.Ser159Ala
Uncertain significance
Single submitter
Houge-Janssens syndrome 2
- PPP2R1A p.Ser160Gly Uncertain significance Single submitter
- PPP2R1A p.Ser214Cys Uncertain significance Single submitter
-
PPP2R1A p.Ser219Trp
Uncertain significance
Single submitter
Houge-Janssens syndrome 2
- PPP2R1A p.Ser464Asn Uncertain significance Single submitter
- PPP2R1A p.Ser490Ala Uncertain significance Single submitter
- PPP2R1A p.Thr178Ile Uncertain significance Single submitter
- PPP2R1A p.Thr281Arg Uncertain significance Single submitter
- PPP2R1A p.Thr555Ser Uncertain significance Single submitter
- PPP2R1A p.Thr75Asn Uncertain significance Single submitter
- PPP2R1A p.Thr77Ser Uncertain significance Single submitter
-
PPP2R1A p.Thr78Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- PPP2R1A p.Tyr261Cys Uncertain significance Single submitter
- PPP2R1A p.Tyr495Cys Uncertain significance Single submitter
- PPP2R1A p.Tyr577Ser Uncertain significance Single submitter
- PPP2R1A p.Val201Ile Uncertain significance Single submitter
- PPP2R1A p.Val220Gly Uncertain significance Single submitter
- PPP2R1A p.Val25Phe Uncertain significance Single submitter
-
PPP2R1A p.Val436Met
Uncertain significance
Single submitter
Houge-Janssens syndrome 2
- PPP2R1A p.Val585Ala Uncertain significance Single submitter
Predictors split 86
The independent predictors disagree with each other — read with care.
- PPP2R1A p.Asp239Val Uncertain significance Multiple submitters
-
PPP2R1A p.Ser9Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PPP2R1A p.Thr178Asn
Pathogenic
Multiple submitters
Houge-Janssens syndrome 2
- PPP2R1A p.Val162Met Likely benign Multiple submitters
- PPP2R1A p.Val25Ala Uncertain significance Multiple submitters
- PPP2R1A p.Ala14Ser Uncertain significance Single submitter
- PPP2R1A p.Ala184Ser Uncertain significance Single submitter
- PPP2R1A p.Ala185Ser Uncertain significance Single submitter
- PPP2R1A p.Ala227Val Uncertain significance Single submitter
-
PPP2R1A p.Ala251Thr
Uncertain significance
Single submitter
Houge-Janssens syndrome 2
-
PPP2R1A p.Ala252Thr
Conflicting
Single submitter
Houge-Janssens syndrome 2
- PPP2R1A p.Ala300Ser Uncertain significance Single submitter
- PPP2R1A p.Ala301Ser Uncertain significance Single submitter
- PPP2R1A p.Ala41Val Uncertain significance Single submitter
- PPP2R1A p.Ala68Thr Uncertain significance Single submitter
- PPP2R1A p.Arg157Gly Uncertain significance Single submitter
- PPP2R1A p.Arg167Gln Uncertain significance Single submitter
- PPP2R1A p.Arg171Gln Benign Single submitter
- PPP2R1A p.Arg171Trp Uncertain significance Single submitter
-
PPP2R1A p.Arg21Cys
Conflicting
Single submitter
Inborn genetic diseases
- PPP2R1A p.Arg221Gln Uncertain significance Single submitter
- PPP2R1A p.Arg249Cys Uncertain significance Single submitter
- PPP2R1A p.Arg258Cys Uncertain significance Single submitter
- PPP2R1A p.Arg318Trp Uncertain significance Single submitter
- PPP2R1A p.Arg398Trp Uncertain significance Single submitter
- PPP2R1A p.Asn22Lys Uncertain significance Single submitter
- PPP2R1A p.Asn230Ile Uncertain significance Single submitter
- PPP2R1A p.Asn338Ser Uncertain significance Single submitter
-
PPP2R1A p.Asn360Asp
Likely benign
Single submitter
Houge-Janssens syndrome 2
- PPP2R1A p.Asp139Asn Uncertain significance Single submitter
- PPP2R1A p.Asp218Glu Uncertain significance Single submitter
- PPP2R1A p.Asp316Asn Likely benign Single submitter
- PPP2R1A p.Asp389Asn Uncertain significance Single submitter
- PPP2R1A p.Asp389Glu Benign Single submitter
- PPP2R1A p.Cys317Arg Uncertain significance Single submitter
- PPP2R1A p.Cys377Tyr Uncertain significance Single submitter
- PPP2R1A p.Gln288His Uncertain significance Single submitter
- PPP2R1A p.Gln399Arg Uncertain significance Single submitter
- PPP2R1A p.Glu191Lys Uncertain significance Single submitter
- PPP2R1A p.Glu410Asp Uncertain significance Single submitter
-
PPP2R1A p.Glu565Gly
Uncertain significance
Single submitter
autism spectrum disorder
- PPP2R1A p.Gly138Ser Uncertain significance Single submitter
- PPP2R1A p.Gly149Ser Uncertain significance Single submitter
- PPP2R1A p.Ile13Val Uncertain significance Single submitter
-
PPP2R1A p.Ile205Met
Uncertain significance
Single submitter
Houge-Janssens syndrome 2
- PPP2R1A p.Leu10Pro Uncertain significance Single submitter
-
PPP2R1A p.Leu150Val
Conflicting
Single submitter
Inborn genetic diseases
- PPP2R1A p.Leu16Phe Uncertain significance Single submitter
- PPP2R1A p.Leu223Val Uncertain significance Single submitter
- PPP2R1A p.Leu313Phe Uncertain significance Single submitter
- PPP2R1A p.Leu73Val Uncertain significance Single submitter
-
PPP2R1A p.Lys163Asn
Conflicting
Single submitter
Inborn genetic diseases
- PPP2R1A p.Lys188Gln Uncertain significance Single submitter
- PPP2R1A p.Lys202Gln Uncertain significance Single submitter
- PPP2R1A p.Lys358Glu Uncertain significance Single submitter
- PPP2R1A p.Lys561Met Likely benign Single submitter
- PPP2R1A p.Lys561Thr Uncertain significance Single submitter
- PPP2R1A p.Met427Ile Uncertain significance Single submitter
- PPP2R1A p.Met427Val Uncertain significance Single submitter
- PPP2R1A p.Phe128Leu Uncertain significance Single submitter
- PPP2R1A p.Phe170Leu Uncertain significance Single submitter
- PPP2R1A p.Phe192Leu Uncertain significance Single submitter
- PPP2R1A p.Phe309Leu Uncertain significance Single submitter
- PPP2R1A p.Pro285Ser Uncertain significance Single submitter
- PPP2R1A p.Pro378Ser Uncertain significance Single submitter
-
PPP2R1A p.Pro92Leu
Conflicting
Single submitter
Houge-Janssens syndrome 2
- PPP2R1A p.Ser111Ala Likely benign Single submitter
- PPP2R1A p.Ser152Cys Likely benign Single submitter
- PPP2R1A p.Ser214Pro Uncertain significance Single submitter
- PPP2R1A p.Ser303Phe Uncertain significance Single submitter
- PPP2R1A p.Ser95Leu Uncertain significance Single submitter
-
PPP2R1A p.Thr178Ala
Likely pathogenic
Single submitter
Houge-Janssens syndrome 2
- PPP2R1A p.Thr178Ser Uncertain significance Single submitter
- PPP2R1A p.Thr268Ile Uncertain significance Single submitter
- PPP2R1A p.Thr37Ile Uncertain significance Single submitter
- PPP2R1A p.Thr501Ala Uncertain significance Single submitter
- PPP2R1A p.Tyr456His Uncertain significance Single submitter
-
PPP2R1A p.Val103Met
Conflicting
Single submitter
Inborn genetic diseases
-
PPP2R1A p.Val153Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- PPP2R1A p.Val158Leu Benign Single submitter
- PPP2R1A p.Val334Met Uncertain significance Single submitter
-
PPP2R1A p.Val470Ala
Uncertain significance
Single submitter
Houge-Janssens syndrome 2
-
PPP2R1A p.Val470Met
Uncertain significance
Single submitter
Inborn genetic diseases
- PPP2R1A p.Val80Met Uncertain significance Single submitter
- PPP2R1A p.Val86Met Uncertain significance Single submitter
-
PPP2R1A p.Ile32Met
Likely pathogenic
No assertion criteria
Houge-Janssens syndrome 2
All PPP2R1A variants
Pathogenic 5
- p.Met180Val Multiple submitters Houge-Janssens syndrome 2
- p.Pro179Leu Multiple submitters PPP2R1A-related disorder
- p.Thr178Asn Multiple submitters Houge-Janssens syndrome 2 ⚠
- p.Val220Met Multiple submitters Houge-Janssens syndrome 2
- p.Asp282fs Single submitter Houge-Janssens syndrome 2
Pathogenic/Likely pathogenic 8
- p.Arg182Gln Multiple submitters Houge-Janssens syndrome 2
- p.Arg182Trp Multiple submitters PPP2R1A-related disorder
- p.Arg183Gln Multiple submitters Houge-Janssens syndrome 2
- p.Arg183Trp Multiple submitters Houge-Janssens syndrome 2
- p.Arg258His Multiple submitters Houge-Janssens syndrome 2
- p.Met180Thr Multiple submitters Houge-Janssens syndrome 2
- p.Pro179His Multiple submitters Houge-Janssens syndrome 2
- p.Ser219Leu Multiple submitters Inborn genetic diseases
Likely pathogenic 10
- p.Arg183Pro Multiple submitters Inborn genetic diseases
- p.Arg134Trp Single submitter Houge-Janssens syndrome 2
- p.Arg498Leu Single submitter Houge-Janssens syndrome 2
- p.Cys174Trp Single submitter neurodevelopmental disorder
- p.Gln217Pro Single submitter PPP2R1A-related disorder
- p.Glu297Lys Single submitter complex neurodevelopmental disorder
- p.Met180Arg Single submitter
- p.Thr178Ala Single submitter Houge-Janssens syndrome 2 ⚠
- p.Val334Leu Single submitter Houge-Janssens syndrome 2 ⚠
- p.Ile32Met No assertion criteria Houge-Janssens syndrome 2 ⚠
Conflicting classifications of pathogenicity 21
- c.1129-7_1129-3del Single submitter
- p.Ala164Val Single submitter Inborn genetic diseases ⚠
- p.Ala232Thr Single submitter ⚠
- p.Ala252Thr Single submitter Houge-Janssens syndrome 2 ⚠
- p.Arg144Cys Single submitter Houge-Janssens syndrome 2 ⚠
- p.Arg21Cys Single submitter Inborn genetic diseases ⚠
- p.Arg420Trp Single submitter ⚠
- p.Asp336Asn Single submitter ⚠
- p.Glu118Lys Single submitter Houge-Janssens syndrome 2 ⚠
- p.Glu410Val Single submitter ⚠
- p.Gly491Arg Single submitter Inborn genetic diseases ⚠
- p.Ile505Val Single submitter Inborn genetic diseases ⚠
- p.Leu150Val Single submitter Inborn genetic diseases ⚠
- p.Leu583Met Single submitter Houge-Janssens syndrome 2 ⚠
- p.Lys163Asn Single submitter Inborn genetic diseases ⚠
- p.Pro92Leu Single submitter Houge-Janssens syndrome 2 ⚠
- p.Ser203Cys Single submitter Inborn genetic diseases ⚠
- p.Ser203Gly Single submitter Inborn genetic diseases ⚠
- p.Ser219Pro Single submitter Houge-Janssens syndrome 2 ⚠
- p.Val103Met Single submitter Inborn genetic diseases ⚠
- p.Val259Ile Single submitter Houge-Janssens syndrome 2 ⚠
Benign 27
- c.1303-6C>T Multiple submitters
- c.1363+8C>G Multiple submitters
- p.Asp574= Multiple submitters
- p.Gly137= Multiple submitters
- p.Ser159= Multiple submitters
- c.1662-3C>T Single submitter
- c.169+12G>A Single submitter
- c.169+17del Single submitter
- c.504-15G>A Single submitter
- c.504-16del Single submitter
- c.78+18dup Single submitter
- c.807+14C>T Single submitter
- c.807+5A>T Single submitter
- c.993+4A>G Single submitter
- p.Ala114Gly Single submitter
- p.Ala126Val Single submitter
- p.Ala164= Single submitter
- p.Ala251Ser Single submitter
- p.Ala344Ser Single submitter
- p.Arg171Gln Single submitter ⚠
- p.Asp265Glu Single submitter
- p.Asp389Glu Single submitter ⚠
- p.Gln233Glu Single submitter
- p.Gln325His Single submitter
- p.Lys576Arg Single submitter
- p.Thr268Ala Single submitter
- p.Val158Leu Single submitter ⚠
Benign/Likely benign 8
- c.1363+14C>G Multiple submitters
- c.1364-16C>G Multiple submitters Houge-Janssens syndrome 2
- c.78+11T>C Multiple submitters
- c.807+4del Multiple submitters
- p.Asp414= Multiple submitters
- p.His87Tyr Multiple submitters
- p.Ser146= Multiple submitters
- p.Val25= Multiple submitters Houge-Janssens syndrome 2
Likely benign 289
- c.1302+7G>A Multiple submitters
- c.1662-10C>T Multiple submitters
- c.170-12T>C Multiple submitters
- c.503+9_503+10del Multiple submitters
- c.504-9G>A Multiple submitters
- c.78+7A>C Multiple submitters
- c.79-1669G>A Multiple submitters
- c.808-20C>G Multiple submitters
- c.808-6C>A Multiple submitters
- p.Ala232= Multiple submitters
- p.Asn200= Multiple submitters
- p.Asp215= Multiple submitters
- p.Gln557= Multiple submitters
- p.Gly138= Multiple submitters
- p.His117= Multiple submitters
- p.Ile231= Multiple submitters
- p.Ile38= Multiple submitters
- p.Leu235= Multiple submitters
- p.Leu352= Multiple submitters
- p.Leu502= Multiple submitters
- p.Leu564= Multiple submitters
- p.Leu567= Multiple submitters
- p.Ser152= Multiple submitters
- p.Ser9= Multiple submitters
- p.Val162Met Multiple submitters ⚠
- p.Val229= Multiple submitters
- c.1128+11C>T Single submitter
- c.1128+18T>A Single submitter
- c.1128+18T>G Single submitter
- c.1128+19C>G Single submitter
- c.1129-10C>T Single submitter
- c.1129-11C>A Single submitter
- c.1129-12T>G Single submitter
- c.1129-14T>C Single submitter
- c.1129-15C>G Single submitter
- c.1129-15C>T Single submitter
- c.1129-19C>A Single submitter
- c.1129-6C>T Single submitter
- c.1302+11A>T Single submitter
- c.1302+12G>A Single submitter
- c.1302+15C>T Single submitter
- c.1303-11T>C Single submitter
- c.1303-19C>A Single submitter
- c.1303-19C>T Single submitter
- c.1303-4G>A Single submitter
- c.1303-5T>G Single submitter
- c.1303-9C>G Single submitter
- c.1363+14C>A Single submitter
- c.1363+14C>T Single submitter
- c.1363+9_1363+10del Single submitter
- c.1364-12del Single submitter
- c.1364-4G>C Single submitter
- c.1518+14del Single submitter
- c.1518+17C>T Single submitter
- c.1518+20G>C Single submitter
- c.1518+8_1518+11del Single submitter
- c.1519-17C>T Single submitter
- c.1662-16T>A Single submitter
- c.1662-19G>A Single submitter
- c.1662-19G>T Single submitter
- c.1662-4C>T Single submitter
- c.1662-8C>T Single submitter
- c.1662-9G>A Single submitter
- c.169+11G>C Single submitter
- c.169+16C>T Single submitter
- c.169+17C>A Single submitter
- c.169+17C>G Single submitter
- c.169+8A>G Single submitter
- c.170-13C>G Single submitter
- c.170-4A>G Single submitter
- c.170-9G>A Single submitter
- c.1753+18C>T Single submitter
- c.1753+19G>A Single submitter
- c.1753+20G>A Single submitter
- c.1753+7C>G Single submitter
- c.1753+8C>T Single submitter
- c.1753+8del Single submitter
- c.1753+9T>G Single submitter
- c.1754-11T>C Single submitter
- c.1754-16G>T Single submitter
- c.1754-19C>T Single submitter
- c.1754-20del Single submitter
- c.270+12G>A Single submitter
- c.271-15G>A Single submitter
- c.503+16C>T Single submitter
- c.503+9C>T Single submitter
- c.504-10C>T Single submitter
- c.504-16C>T Single submitter
- c.504-20T>A Single submitter
- c.651+16T>C Single submitter
- c.652-11C>T Single submitter
- c.652-13C>T Single submitter
- c.652-16C>T Single submitter
- c.652-4C>G Single submitter
- c.652-6C>G Single submitter
- c.652-8C>G Single submitter
- c.78+121G>A Single submitter
- c.78+16G>A Single submitter
- c.78+18G>A Single submitter
- c.78+18G>T Single submitter
- c.78+20C>T Single submitter
- c.78+54G>T Single submitter
- c.78+76_78+77del Single submitter
- c.78+87T>A Single submitter
- c.78+87T>C Single submitter
- c.78+9del Single submitter
- c.79-10C>T Single submitter
- c.79-16_79-14del Single submitter
- c.79-16C>A Single submitter
- c.79-16C>G Single submitter
- c.79-16C>T Single submitter
- c.79-5A>G Single submitter
- c.79-6C>G Single submitter
- c.79-8C>G Single submitter
- c.807+10C>T Single submitter
- c.807+11G>A Single submitter
- c.807+13C>T Single submitter
- c.807+15G>A Single submitter
- c.808-10C>G Single submitter
- c.808-10C>T Single submitter
- c.808-12T>C Single submitter
- c.808-13T>C Single submitter
- c.808-20C>A Single submitter
- c.808-20C>T Single submitter
- c.808-4G>A Single submitter
- c.922+16C>T Single submitter
- c.922+17G>A Single submitter
- c.922+9T>C Single submitter
- c.923-14dup Single submitter
- c.923-17C>T Single submitter
- c.923-18C>T Single submitter
- c.923-5C>A Single submitter
- c.923-5C>G Single submitter
- c.923-5C>T Single submitter
- c.923-6C>G Single submitter
- c.993+16A>G Single submitter
- c.993+18G>A Single submitter
- c.993+20del Single submitter
- c.993+6AG[2] Single submitter
- c.993+9G>C Single submitter
- c.994-14C>T Single submitter
- c.994-17C>T Single submitter
- c.994-4C>G Single submitter
- c.994-4C>T Single submitter
- c.994-5C>G Single submitter
- c.994-8T>C Single submitter
- p.Ala126= Single submitter
- p.Ala136= Single submitter
- p.Ala161= Single submitter
- p.Ala184= Single submitter
- p.Ala185Thr Single submitter
- p.Ala224= Single submitter
- p.Ala227= Single submitter
- p.Ala251= Single submitter
- p.Ala286= Single submitter
- p.Ala296= Single submitter
- p.Ala300= Single submitter
- p.Ala302= Single submitter
- p.Ala344= Single submitter
- p.Ala4= Single submitter
- p.Ala412= Single submitter
- p.Ala449= Single submitter
- p.Ala457= Single submitter
- p.Ala461= Single submitter
- p.Ala462= Single submitter
- p.Ala480= Single submitter
- p.Ala589= Single submitter
- p.Arg113= Single submitter
- p.Arg157Gln Single submitter
- p.Arg182= Single submitter
- p.Arg183= Single submitter
- p.Arg21= Single submitter
- p.Arg249= Single submitter
- p.Arg258= Single submitter
- p.Arg28= Single submitter
- p.Arg318= Single submitter
- p.Arg418Trp Single submitter
- p.Arg459= Single submitter
- p.Asn338= Single submitter
- p.Asn360Asp Single submitter Houge-Janssens syndrome 2 ⚠
- p.Asn383= Single submitter
- p.Asn392= Single submitter
- p.Asn494Ser Single submitter
- p.Asp139= Single submitter
- p.Asp218= Single submitter
- p.Asp316Asn Single submitter ⚠
- p.Asp492= Single submitter
- p.Asp57= Single submitter
- p.Asp7= Single submitter
- p.Cys148= Single submitter
- p.Cys154= Single submitter
- p.Cys228= Single submitter
- p.Cys294= Single submitter
- p.Gln271= Single submitter
- p.Gln339= Single submitter
- p.Gln402= Single submitter
- p.Glu110= Single submitter
- p.Glu118= Single submitter
- p.Glu165= Single submitter
- p.Glu191= Single submitter
- p.Glu216= Single submitter
- p.Glu226= Single submitter
- p.Glu476= Single submitter
- p.Gly190= Single submitter
- p.Gly275= Single submitter
- p.Gly6= Single submitter
- p.His127= Single submitter
- p.His497= Single submitter
- p.His87= Single submitter
- p.Ile13= Single submitter
- p.Ile206= Single submitter
- p.Ile349= Single submitter
- p.Ile362= Single submitter
- p.Ile385= Single submitter
- p.Ile397= Single submitter
- p.Ile424= Single submitter
- p.Leu10= Single submitter
- p.Leu173= Single submitter
- p.Leu196= Single submitter
- p.Leu20= Single submitter
- p.Leu212= Single submitter
- p.Leu222= Single submitter
- p.Leu223= Single submitter
- p.Leu283= Single submitter
- p.Leu313= Single submitter
- p.Leu366= Single submitter
- p.Leu368= Single submitter
- p.Leu400= Single submitter
- p.Leu42= Single submitter
- p.Leu430= Single submitter
- p.Leu469= Single submitter
- p.Leu487= Single submitter
- p.Leu496= Single submitter
- p.Leu51= Single submitter
- p.Leu52= Single submitter
- p.Leu588= Single submitter
- p.Leu67= Single submitter
- p.Leu69= Single submitter
- p.Leu73= Single submitter
- p.Lys107= Single submitter
- p.Lys272= Single submitter
- p.Lys374= Single submitter
- p.Lys561Met Single submitter ⚠
- p.Phe141= Single submitter
- p.Phe369Ser Single submitter
- p.Phe54= Single submitter
- p.Phe76= Single submitter
- p.Pro12= Single submitter
- p.Pro130= Single submitter
- p.Pro156= Single submitter
- p.Pro179= Single submitter
- p.Pro236= Single submitter
- p.Pro276= Single submitter
- p.Pro354= Single submitter
- p.Pro428= Single submitter
- p.Pro92= Single submitter
- p.Ser111= Single submitter
- p.Ser111Ala Single submitter ⚠
- p.Ser120= Single submitter
- p.Ser152Cys Single submitter ⚠
- p.Ser210= Single submitter
- p.Ser214= Single submitter
- p.Ser219= Single submitter
- p.Ser303= Single submitter
- p.Ser335= Single submitter
- p.Ser353= Single submitter
- p.Ser401= Single submitter
- p.Ser445= Single submitter
- p.Ser464= Single submitter
- p.Ser490= Single submitter
- p.Ser95= Single submitter
- p.Thr142= Single submitter
- p.Thr247= Single submitter
- p.Thr268= Single submitter
- p.Thr361= Single submitter
- p.Thr501= Single submitter
- p.Thr568= Single submitter
- p.Thr77= Single submitter
- p.Tyr11= Single submitter
- p.Tyr577= Single submitter
- p.Tyr85= Single submitter
- p.Val153= Single submitter
- p.Val284= Single submitter
- p.Val321Met Single submitter
- p.Val334= Single submitter
- p.Val380= Single submitter
- p.Val419= Single submitter
- p.Val99= Single submitter
- c.1128+10C>T No assertion criteria PPP2R1A-related disorder
Uncertain significance 196
- c.1363+6T>G Multiple submitters
- c.*136C>T Multiple submitters Houge-Janssens syndrome 2
- p.Ala589Thr Multiple submitters Houge-Janssens syndrome 2 ⚠
- p.Arg167Ter Multiple submitters
- p.Arg221Trp Multiple submitters Houge-Janssens syndrome 2 ⚠
- p.Asp239Val Multiple submitters ⚠
- p.Gln557His Multiple submitters Inborn genetic diseases ⚠
- p.Gly190Trp Multiple submitters ⚠
- p.Ile115Val Multiple submitters Houge-Janssens syndrome 2 ⚠
- p.Leu487Ser Multiple submitters Houge-Janssens syndrome 2 ⚠
- p.Lys468Arg Multiple submitters ⚠
- p.Lys475Arg Multiple submitters Inborn genetic diseases ⚠
- p.Pro276Ser Multiple submitters Inborn genetic diseases ⚠
- p.Ser9Leu Multiple submitters Inborn genetic diseases ⚠
- p.Thr281Ile Multiple submitters ⚠
- p.Thr78Pro Multiple submitters ⚠
- p.Val158Ala Multiple submitters ⚠
- p.Val25Ala Multiple submitters ⚠
- c.1128+3A>C Single submitter
- c.1129-3C>T Single submitter
- c.169+11G>T Single submitter
- c.169+5C>A Single submitter
- c.169+5C>G Single submitter
- c.270+2T>G Single submitter
- c.504-6T>G Single submitter
- c.78+3_78+41dup Single submitter
- c.78+5G>A Single submitter
- c.807+4G>C Single submitter
- c.807+5A>G Single submitter
- c.994-4_994-3delinsTT Single submitter
- c.-4del Single submitter
- p.Ala14Ser Single submitter ⚠
- p.Ala161Ser Single submitter ⚠
- p.Ala161Val Single submitter ⚠
- p.Ala184Ser Single submitter ⚠
- p.Ala185Ser Single submitter ⚠
- p.Ala227Val Single submitter ⚠
- p.Ala232Ser Single submitter ⚠
- p.Ala232Val Single submitter ⚠
- p.Ala251Thr Single submitter Houge-Janssens syndrome 2 ⚠
- p.Ala300Ser Single submitter ⚠
- p.Ala301Ser Single submitter ⚠
- p.Ala301Thr Single submitter ⚠
- p.Ala302Thr Single submitter ⚠
- p.Ala346Val Single submitter ⚠
- p.Ala39Thr Single submitter ⚠
- p.Ala415Ser Single submitter ⚠
- p.Ala415Thr Single submitter ⚠
- p.Ala41Val Single submitter ⚠
- p.Ala462Pro Single submitter ⚠
- p.Ala68Thr Single submitter ⚠
- p.Arg105Trp Single submitter ⚠
- p.Arg113Trp Single submitter Houge-Janssens syndrome 2 ⚠
- p.Arg157Gly Single submitter ⚠
- p.Arg167Gln Single submitter ⚠
- p.Arg171Trp Single submitter ⚠
- p.Arg221Gln Single submitter ⚠
- p.Arg249Cys Single submitter ⚠
- p.Arg258Cys Single submitter ⚠
- p.Arg28His Single submitter ⚠
- p.Arg318Trp Single submitter ⚠
- p.Arg381Trp Single submitter Inborn genetic diseases ⚠
- p.Arg398Gln Single submitter ⚠
- p.Arg398Trp Single submitter ⚠
- p.Arg418Pro Single submitter Inborn genetic diseases ⚠
- p.Arg420Gln Single submitter ⚠
- p.Arg459Cys Single submitter ⚠
- p.Arg459His Single submitter ⚠
- p.Arg498Cys Single submitter ⚠
- p.Asn211His Single submitter ⚠
- p.Asn211Ser Single submitter ⚠
- p.Asn22Lys Single submitter ⚠
- p.Asn230Ile Single submitter ⚠
- p.Asn338Ser Single submitter ⚠
- p.Asn494fs Single submitter Houge-Janssens syndrome 2
- p.Asn506Ser Single submitter ⚠
- p.Asp106Gly Single submitter ⚠
- p.Asp139Asn Single submitter ⚠
- p.Asp176His Single submitter ⚠
- p.Asp199Asn Single submitter ⚠
- p.Asp218Glu Single submitter ⚠
- p.Asp336Glu Single submitter ⚠
- p.Asp336His Single submitter Houge-Janssens syndrome 2 ⚠
- p.Asp389Asn Single submitter ⚠
- p.Asp389Gly Single submitter ⚠
- p.Asp453His Single submitter ⚠
- p.Asp5Glu Single submitter Houge-Janssens syndrome 2 ⚠
- p.Cys294_Glu295delinsTer Single submitter
- p.Cys317Arg Single submitter ⚠
- p.Cys377Tyr Single submitter ⚠
- p.Gln168= Single submitter
- p.Gln217= Single submitter
- p.Gln237Leu Single submitter
- p.Gln26Arg Single submitter Inborn genetic diseases ⚠
- p.Gln288His Single submitter ⚠
- p.Gln399Arg Single submitter ⚠
- p.Gln433Ter Single submitter
- p.Gln569Arg Single submitter ⚠
- p.Gln571Arg Single submitter ⚠
- p.Gln571Pro Single submitter ⚠
- p.Glu165Asp Single submitter ⚠
- p.Glu191Lys Single submitter ⚠
- p.Glu238Gly Single submitter ⚠
- p.Glu308Asp Single submitter ⚠
- p.Glu311Asp Single submitter ⚠
- p.Glu363Gly Single submitter ⚠
- p.Glu410Asp Single submitter ⚠
- p.Glu565Gly Single submitter autism spectrum disorder ⚠
- p.Gly138Ser Single submitter ⚠
- p.Gly149Ser Single submitter ⚠
- p.Gly6Ser Single submitter ⚠
- p.His117Asp Single submitter Houge-Janssens syndrome 2 ⚠
- p.His340Arg Single submitter ⚠
- p.His340Leu Single submitter ⚠
- p.His454= Single submitter
- p.His479Arg Single submitter ⚠
- p.Ile13Val Single submitter ⚠
- p.Ile17Thr Single submitter ⚠
- p.Ile205Met Single submitter Houge-Janssens syndrome 2 ⚠
- p.Ile330Val Single submitter ⚠
- p.Ile397Thr Single submitter ⚠
- p.Ile482Val Single submitter Inborn genetic diseases ⚠
- p.Ile483Leu Single submitter ⚠
- p.Leu10Pro Single submitter ⚠
- p.Leu150= Single submitter Houge-Janssens syndrome 2
- p.Leu16Phe Single submitter ⚠
- p.Leu20Pro Single submitter ⚠
- p.Leu223Val Single submitter ⚠
- p.Leu313Phe Single submitter ⚠
- p.Leu429Pro Single submitter Inborn genetic diseases ⚠
- p.Leu496Pro Single submitter Inborn genetic diseases ⚠
- p.Leu588Val Single submitter ⚠
- p.Leu73Val Single submitter ⚠
- p.Lys188Gln Single submitter ⚠
- p.Lys202Gln Single submitter ⚠
- p.Lys280Arg Single submitter ⚠
- p.Lys358Glu Single submitter ⚠
- p.Lys416Arg Single submitter ⚠
- p.Lys467Arg Single submitter ⚠
- p.Lys561Thr Single submitter ⚠
- p.Met291Leu Single submitter ⚠
- p.Met427Ile Single submitter ⚠
- p.Met427Val Single submitter ⚠
- p.Met489Lys Single submitter ⚠
- p.Met489Thr Single submitter ⚠
- p.Met499Val Single submitter ⚠
- p.Phe128Leu Single submitter ⚠
- p.Phe170Leu Single submitter ⚠
- p.Phe192Leu Single submitter ⚠
- p.Phe309Leu Single submitter ⚠
- p.Phe438Leu Single submitter ⚠
- p.Phe439Leu Single submitter ⚠
- p.Pro246Arg Single submitter Houge-Janssens syndrome 2 ⚠
- p.Pro276Thr Single submitter ⚠
- p.Pro285Ser Single submitter ⚠
- p.Pro378Ser Single submitter ⚠
- p.Pro484Ser Single submitter ⚠
- p.Pro53Leu Single submitter Inborn genetic diseases ⚠
- p.Ser120Leu Single submitter ⚠
- p.Ser143Pro Single submitter ⚠
- p.Ser159Ala Single submitter Houge-Janssens syndrome 2 ⚠
- p.Ser160Gly Single submitter ⚠
- p.Ser214Cys Single submitter ⚠
- p.Ser214Pro Single submitter ⚠
- p.Ser219Trp Single submitter Houge-Janssens syndrome 2 ⚠
- p.Ser303Phe Single submitter ⚠
- p.Ser464Asn Single submitter ⚠
- p.Ser490Ala Single submitter ⚠
- p.Ser95Leu Single submitter ⚠
- p.Ser9Ter Single submitter
- p.Thr178Ile Single submitter ⚠
- p.Thr178Ser Single submitter ⚠
- p.Thr268Ile Single submitter ⚠
- p.Thr281Arg Single submitter ⚠
- p.Thr37Ile Single submitter ⚠
- p.Thr501Ala Single submitter ⚠
- p.Thr555Ser Single submitter ⚠
- p.Thr75Asn Single submitter ⚠
- p.Thr77Ser Single submitter ⚠
- p.Thr78Ala Single submitter Inborn genetic diseases ⚠
- p.Tyr261Cys Single submitter ⚠
- p.Tyr456His Single submitter ⚠
- p.Tyr495Cys Single submitter ⚠
- p.Tyr577Ser Single submitter ⚠
- p.Val104del Single submitter
- p.Val153Phe Single submitter Inborn genetic diseases ⚠
- p.Val201Ile Single submitter ⚠
- p.Val220Gly Single submitter ⚠
- p.Val25Phe Single submitter ⚠
- p.Val334Met Single submitter ⚠
- p.Val436Met Single submitter Houge-Janssens syndrome 2 ⚠
- p.Val470Ala Single submitter Houge-Janssens syndrome 2 ⚠
- p.Val470Met Single submitter Inborn genetic diseases ⚠
- p.Val585Ala Single submitter ⚠
- p.Val80Met Single submitter ⚠
- p.Val86Met Single submitter ⚠