PIK3R2 — 480 ClinVar variants

All ClinVar germline PIK3R2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 215 flagged for review →

6 Pathogenic · 1 Pathogenic/Likely pathogenic · 6 Likely pathogenic · 17 Conflicting · 56 Benign · 12 Benign/Likely benign · 170 Likely benign · 212 Uncertain significance

Full PIK3R2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 215

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.

PIK3R2 p.Val284Met Likely pathogenic No assertion criteria
plasma cell myeloma

Predictors agree, ClinVar conflicts 5

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

PIK3R2 p.Gly173Ser Conflicting Single submitter
megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
PIK3R2 p.Gly663Arg Conflicting Single submitter
Inborn genetic diseases
PIK3R2 p.Ile135Thr Conflicting Single submitter
Inborn genetic diseases
PIK3R2 p.Pro565Arg Conflicting Single submitter
megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
PIK3R2 p.Pro565Leu Conflicting Single submitter
Overgrowth syndrome and/or cerebral malformations

Predictors lean, ClinVar uncertain 90

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

PIK3R2 p.Ala298Val Uncertain significance Multiple submitters
megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
PIK3R2 p.Arg16Gly Uncertain significance Multiple submitters
Inborn genetic diseases
PIK3R2 p.Arg652Gln Uncertain significance Multiple submitters
PIK3R2-related disorder
PIK3R2 p.Arg85Gln Uncertain significance Multiple submitters
Inborn genetic diseases
PIK3R2 p.Asp102Ala Uncertain significance Multiple submitters
Inborn genetic diseases
PIK3R2 p.His698Pro Uncertain significance Multiple submitters
PIK3R2 p.Leu185Val Uncertain significance Multiple submitters
megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
PIK3R2 p.Pro322Leu Uncertain significance Multiple submitters
megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
PIK3R2 p.Pro348Thr Uncertain significance Multiple submitters
megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
PIK3R2 p.Ser53Thr Uncertain significance Multiple submitters
megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
PIK3R2 p.Thr394Ala Uncertain significance Multiple submitters
megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
PIK3R2 p.Tyr655Cys Uncertain significance Multiple submitters
megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
PIK3R2 p.Ala317Thr Uncertain significance Single submitter
megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
PIK3R2 p.Ala444Thr Uncertain significance Single submitter
PIK3R2 p.Ala548Thr Uncertain significance Single submitter
megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
PIK3R2 p.Ala606Ser Uncertain significance Single submitter
PIK3R2 p.Ala632Thr Uncertain significance Single submitter
PIK3R2 p.Ala713Val Uncertain significance Single submitter
Inborn genetic diseases
PIK3R2 p.Ala718Ser Uncertain significance Single submitter
megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
PIK3R2 p.Ala98Ser Uncertain significance Single submitter
PIK3R2-related disorder
PIK3R2 p.Arg345Gln Uncertain significance Single submitter
megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
PIK3R2 p.Arg355Gln Uncertain significance Single submitter
PIK3R2 p.Arg406Gly Uncertain significance Single submitter
PIK3R2 p.Arg510Gln Uncertain significance Single submitter
megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
PIK3R2 p.Arg728His Uncertain significance Single submitter
PIK3R2 p.Arg728Leu Uncertain significance Single submitter
PIK3R2 p.Asn375Ser Uncertain significance Single submitter
megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
PIK3R2 p.Asn628Lys Uncertain significance Single submitter
Inborn genetic diseases
PIK3R2 p.Asn628Ser Uncertain significance Single submitter
megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
PIK3R2 p.Asp113Ala Uncertain significance Single submitter
megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
PIK3R2 p.Asp141Glu Uncertain significance Single submitter
megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
PIK3R2 p.Asp610Glu Uncertain significance Single submitter
PIK3R2 p.Asp612Glu Uncertain significance Single submitter
PIK3R2 p.Gln289Arg Uncertain significance Single submitter
Inborn genetic diseases
PIK3R2 p.Gln295Arg Uncertain significance Single submitter
PIK3R2 p.Gln569His Uncertain significance Single submitter
PIK3R2 p.Glu274Ala Uncertain significance Single submitter
megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
PIK3R2 p.Glu342Lys Uncertain significance Single submitter
megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
PIK3R2 p.Glu473Lys Uncertain significance Single submitter
PIK3R2 p.Glu681Asp Uncertain significance Single submitter
megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
PIK3R2 p.Glu691Asp Uncertain significance Single submitter
PIK3R2 p.Gly108Ser Uncertain significance Single submitter
PIK3R2 p.Gly59Ser Uncertain significance Single submitter
PIK3R2 p.Gly625Ser Uncertain significance Single submitter
megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
PIK3R2 p.Gly653Ser Uncertain significance Single submitter
Inborn genetic diseases
PIK3R2 p.Gly87Ser Uncertain significance Single submitter
megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
PIK3R2 p.His386Arg Uncertain significance Single submitter
megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
PIK3R2 p.His404Pro Uncertain significance Single submitter
Inborn genetic diseases
PIK3R2 p.His616Tyr Uncertain significance Single submitter
Inborn genetic diseases
PIK3R2 p.His667Arg Uncertain significance Single submitter
PIK3R2 p.His704Arg Uncertain significance Single submitter
PIK3R2 p.Leu12Val Uncertain significance Single submitter
Inborn genetic diseases
PIK3R2 p.Leu344Pro Uncertain significance Single submitter
megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
PIK3R2 p.Leu353Arg Uncertain significance Single submitter
megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
PIK3R2 p.Leu367Val Uncertain significance Single submitter
megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
PIK3R2 p.Leu446Pro Uncertain significance Single submitter
Inborn genetic diseases
PIK3R2 p.Leu546Pro Uncertain significance Single submitter
megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
PIK3R2 p.Leu694Gln Uncertain significance Single submitter
PIK3R2 p.Leu96Val Uncertain significance Single submitter
Inborn genetic diseases
PIK3R2 p.Lys130Thr Uncertain significance Single submitter
PIK3R2 p.Met608Val Uncertain significance Single submitter
Inborn genetic diseases
PIK3R2 p.Met635Thr Uncertain significance Single submitter
megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
PIK3R2 p.Met635Val Uncertain significance Single submitter
megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
PIK3R2 p.Phe352Cys Uncertain significance Single submitter
PIK3R2 p.Phe677Leu Uncertain significance Single submitter
Inborn genetic diseases
PIK3R2 p.Pro115Ser Uncertain significance Single submitter
megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
PIK3R2 p.Pro153Arg Uncertain significance Single submitter
PIK3R2 p.Pro153Leu Uncertain significance Single submitter
megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
PIK3R2 p.Pro303Leu Uncertain significance Single submitter
Inborn genetic diseases
PIK3R2 p.Pro565Gln Uncertain significance Single submitter
megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
PIK3R2 p.Pro682Thr Uncertain significance Single submitter
PIK3R2 p.Ser313Ala Uncertain significance Single submitter
megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
PIK3R2 p.Ser538Cys Uncertain significance Single submitter
PIK3R2 p.Ser551Leu Uncertain significance Single submitter
megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
PIK3R2 p.Ser649Gly Uncertain significance Single submitter
Inborn genetic diseases
PIK3R2 p.Ser688Leu Uncertain significance Single submitter
megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
PIK3R2 p.Thr110Ala Uncertain significance Single submitter
megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
PIK3R2 p.Thr110Arg Uncertain significance Single submitter
megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
PIK3R2 p.Thr110Ile Uncertain significance Single submitter
Inborn genetic diseases
PIK3R2 p.Thr673Met Uncertain significance Single submitter
Inborn genetic diseases
PIK3R2 p.Thr675Ile Uncertain significance Single submitter
Inborn genetic diseases
PIK3R2 p.Trp622Ser Uncertain significance Single submitter
Inborn genetic diseases
PIK3R2 p.Tyr331Cys Uncertain significance Single submitter
Inborn genetic diseases
PIK3R2 p.Val123Met Uncertain significance Single submitter
PIK3R2 p.Val398Leu Uncertain significance Single submitter
megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
PIK3R2 p.Val448Ile Uncertain significance Single submitter
Inborn genetic diseases
PIK3R2 p.Val579Met Uncertain significance Single submitter
Inborn genetic diseases
PIK3R2 p.Val669Ile Uncertain significance Single submitter
PIK3R2 p.Val702Gly Uncertain significance Single submitter
PIK3R2 p.Gly92Val Uncertain significance No assertion criteria
PIK3R2-related disorder

Predictors split 119

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

PIK3R2 p.Pro107Leu Likely benign Expert panel
overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
PIK3R2 p.Val54Met Benign Expert panel
overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
PIK3R2 p.Ala40Val Uncertain significance Multiple submitters
megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
PIK3R2 p.Ala707Val Uncertain significance Multiple submitters
megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
PIK3R2 p.Ala718Val Uncertain significance Multiple submitters
megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
PIK3R2 p.Ala727Thr Benign Multiple submitters
megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
PIK3R2 p.Ala98Thr Uncertain significance Multiple submitters
megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
PIK3R2 p.Arg101His Benign/Likely benign Multiple submitters
Inborn genetic diseases
PIK3R2 p.Arg10His Uncertain significance Multiple submitters
megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
PIK3R2 p.Arg35Gln Benign Multiple submitters
megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
PIK3R2 p.Arg35Trp Uncertain significance Multiple submitters
megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
PIK3R2 p.Arg406Cys Uncertain significance Multiple submitters
Inborn genetic diseases
PIK3R2 p.Arg49Cys Uncertain significance Multiple submitters
megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
PIK3R2 p.Arg511His Uncertain significance Multiple submitters
megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
PIK3R2 p.Arg547Gln Uncertain significance Multiple submitters
megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
PIK3R2 p.Arg89His Uncertain significance Multiple submitters
megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
PIK3R2 p.Arg94Cys Uncertain significance Multiple submitters
megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
PIK3R2 p.Asp161Asn Uncertain significance Multiple submitters
megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
PIK3R2 p.Gly28Ser Uncertain significance Multiple submitters
Inborn genetic diseases
PIK3R2 p.Gly92Cys Uncertain significance Multiple submitters
Inborn genetic diseases
PIK3R2 p.Ile335Val Uncertain significance Multiple submitters
Inborn genetic diseases
PIK3R2 p.Leu159Pro Uncertain significance Multiple submitters
Inborn genetic diseases
PIK3R2 p.Pro151Ser Benign Multiple submitters
megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
PIK3R2 p.Pro20Leu Uncertain significance Multiple submitters
megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
PIK3R2 p.Pro51Ala Uncertain significance Multiple submitters
Inborn genetic diseases
PIK3R2 p.Pro719Leu Uncertain significance Multiple submitters
Inborn genetic diseases
PIK3R2 p.Pro723Leu Benign/Likely benign Multiple submitters
megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
PIK3R2 p.Pro95Leu Uncertain significance Multiple submitters
Inborn genetic diseases
PIK3R2 p.Ser273Cys Benign/Likely benign Multiple submitters
megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
PIK3R2 p.Val232Gly Uncertain significance Multiple submitters
Inborn genetic diseases
PIK3R2 p.Val398Ile Uncertain significance Multiple submitters
megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
PIK3R2 p.Ala11Ser Uncertain significance Single submitter
megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
PIK3R2 p.Ala245Asp Conflicting Single submitter
Inborn genetic diseases
PIK3R2 p.Ala36Val Conflicting Single submitter
intellectual disability
PIK3R2 p.Ala415Thr Conflicting Single submitter
megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
PIK3R2 p.Ala718Asp Uncertain significance Single submitter
megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
PIK3R2 p.Arg101Cys Likely benign Single submitter
megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
PIK3R2 p.Arg137Gly Uncertain significance Single submitter
megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
PIK3R2 p.Arg137Lys Uncertain significance Single submitter
Inborn genetic diseases
PIK3R2 p.Arg147Leu Uncertain significance Single submitter
megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
PIK3R2 p.Arg16Cys Conflicting Single submitter
megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
PIK3R2 p.Arg19Gln Uncertain significance Single submitter
megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
PIK3R2 p.Arg19Trp Likely benign Single submitter
megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
PIK3R2 p.Arg406His Conflicting Single submitter
megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
PIK3R2 p.Arg420Gln Uncertain significance Single submitter
PIK3R2-related disorder
PIK3R2 p.Arg458Leu Uncertain significance Single submitter
Inborn genetic diseases
PIK3R2 p.Arg508Cys Conflicting Single submitter
megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
PIK3R2 p.Arg508His Uncertain significance Single submitter
megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
PIK3R2 p.Arg527Leu Uncertain significance Single submitter
Inborn genetic diseases
PIK3R2 p.Arg539Cys Benign Single submitter
megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
PIK3R2 p.Arg559Cys Uncertain significance Single submitter
overgrowth syndrome
PIK3R2 p.Arg559Leu Uncertain significance Single submitter
Inborn genetic diseases
PIK3R2 p.Arg620Cys Uncertain significance Single submitter
Inborn genetic diseases
PIK3R2 p.Arg63Cys Likely benign Single submitter
megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
PIK3R2 p.Arg65Trp Uncertain significance Single submitter
PIK3R2 p.Arg67Gln Benign Single submitter
megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
PIK3R2 p.Arg89Cys Likely benign Single submitter
megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
PIK3R2 p.Arg91Trp Conflicting Single submitter
megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
PIK3R2 p.Asn485Ser Uncertain significance Single submitter
PIK3R2 p.Asn561Ser Benign Single submitter
megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
PIK3R2 p.Asn592Ser Uncertain significance Single submitter
megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
PIK3R2 p.Asp102Asn Benign Single submitter
megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
PIK3R2 p.Asp113Asn Uncertain significance Single submitter
megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
PIK3R2 p.Asp166His Uncertain significance Single submitter
megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
PIK3R2 p.Asp334Glu Benign Single submitter
megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
PIK3R2 p.Asp356Asn Likely benign Single submitter
megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
PIK3R2 p.Asp557Asn Uncertain significance Single submitter
PIK3R2 p.Cys50Tyr Uncertain significance Single submitter
Inborn genetic diseases
PIK3R2 p.Gln295His Uncertain significance Single submitter
Inborn genetic diseases
PIK3R2 p.Gln430Glu Uncertain significance Single submitter
megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
PIK3R2 p.Gln454Arg Uncertain significance Single submitter
megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
PIK3R2 p.Gln519Arg Uncertain significance Single submitter
PIK3R2 p.Gln52Lys Benign Single submitter
megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
PIK3R2 p.Glu116Lys Uncertain significance Single submitter
megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
PIK3R2 p.Glu143Lys Uncertain significance Single submitter
Inborn genetic diseases
PIK3R2 p.Glu293Lys Uncertain significance Single submitter
megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
PIK3R2 p.Glu342Asp Uncertain significance Single submitter
megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
PIK3R2 p.Glu466Lys Uncertain significance Single submitter
PIK3R2 p.Glu486Asp Uncertain significance Single submitter
PIK3R2 p.Glu499Gln Uncertain significance Single submitter
PIK3R2 p.Glu515Lys Uncertain significance Single submitter
megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
PIK3R2 p.Glu526Lys Uncertain significance Single submitter
megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
PIK3R2 p.Glu534Gln Uncertain significance Single submitter
Inborn genetic diseases
PIK3R2 p.Glu611Lys Uncertain significance Single submitter
Inborn genetic diseases
PIK3R2 p.Glu62Lys Uncertain significance Single submitter
PIK3R2 p.Gly203Val Uncertain significance Single submitter
megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
PIK3R2 p.Gly663Ser Uncertain significance Single submitter
Inborn genetic diseases
PIK3R2 p.His536Leu Uncertain significance Single submitter
Inborn genetic diseases
PIK3R2 p.Leu109Phe Uncertain significance Single submitter
Inborn genetic diseases
PIK3R2 p.Leu127Phe Likely benign Single submitter
megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
PIK3R2 p.Leu127Pro Conflicting Single submitter
megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
PIK3R2 p.Leu614Phe Uncertain significance Single submitter
megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
PIK3R2 p.Lys447Glu Uncertain significance Single submitter
Inborn genetic diseases
PIK3R2 p.Lys572Arg Uncertain significance Single submitter
PIK3R2 p.Met476Ile Uncertain significance Single submitter
megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
PIK3R2 p.Met560Ile Uncertain significance Single submitter
PIK3R2 p.Pro100Ser Uncertain significance Single submitter
Inborn genetic diseases
PIK3R2 p.Pro105Ser Uncertain significance Single submitter
PIK3R2 p.Pro260Ser Benign Single submitter
megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
PIK3R2 p.Pro723Arg Uncertain significance Single submitter
PIK3R2 p.Pro724Leu Conflicting Single submitter
megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
PIK3R2 p.Pro725Ser Likely benign Single submitter
Inborn genetic diseases
PIK3R2 p.Pro93Leu Uncertain significance Single submitter
PIK3R2 p.Pro97Leu Uncertain significance Single submitter
Inborn genetic diseases
PIK3R2 p.Ser176Asn Conflicting Single submitter
Inborn genetic diseases
PIK3R2 p.Ser276Asn Conflicting Single submitter
Inborn genetic diseases
PIK3R2 p.Ser321Asn Uncertain significance Single submitter
Inborn genetic diseases
PIK3R2 p.Ser359Thr Conflicting Single submitter
megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
PIK3R2 p.Thr167Met Benign Single submitter
megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
PIK3R2 p.Thr711Ser Uncertain significance Single submitter
Inborn genetic diseases
PIK3R2 p.Tyr505His Uncertain significance Single submitter
megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
PIK3R2 p.Val132Met Uncertain significance Single submitter
PIK3R2 p.Val232Met Benign Single submitter
megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
PIK3R2 p.Val43Met Uncertain significance Single submitter
megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
PIK3R2 p.Val442Met Uncertain significance Single submitter
PIK3R2 p.Val716Leu Benign Single submitter
megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
PIK3R2 p.Val81Leu Uncertain significance Single submitter
Inborn genetic diseases
PIK3R2 p.Val81Met Likely benign Single submitter
PIK3R2 p.Asp161His Uncertain significance No assertion criteria
PIK3R2-related disorder

All PIK3R2 variants

Pathogenic 6

p.Gly373Arg Expert panel overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
p.Lys376Glu Multiple submitters PIK3R2-related disorder
p.Asp557His Single submitter
p.Lys564Glu Single submitter
p.Gly385Arg No assertion criteria megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
p.Leu401Pro No assertion criteria megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1

Pathogenic/Likely pathogenic 1

p.Asp557Tyr Multiple submitters PIK3R2-related disorder

Likely pathogenic 6

p.Asn561Asp Single submitter megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
p.Phe352Leu Single submitter megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
p.Ser650Gly Single submitter
p.Trp330Gly Single submitter megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
p.Tyr453Ter Single submitter
p.Val284Met No assertion criteria plasma cell myeloma ⚠

Conflicting classifications of pathogenicity 17

p.Ala245Asp Single submitter Inborn genetic diseases ⚠
p.Ala36Val Single submitter intellectual disability ⚠
p.Ala415Thr Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome ⚠
p.Arg16Cys Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome ⚠
p.Arg406His Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome ⚠
p.Arg508Cys Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome ⚠
p.Arg91Trp Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome ⚠
p.Gly173Ser Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome ⚠
p.Gly663Arg Single submitter Inborn genetic diseases ⚠
p.Ile135Thr Single submitter Inborn genetic diseases ⚠
p.Leu127Pro Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome ⚠
p.Pro565Arg Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome ⚠
p.Pro565Leu Single submitter Overgrowth syndrome and/or cerebral malformations ⚠
p.Pro724Leu Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome ⚠
p.Ser176Asn Single submitter Inborn genetic diseases ⚠
p.Ser276Asn Single submitter Inborn genetic diseases ⚠
p.Ser359Thr Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome ⚠

Benign 56

p.Val54Met Expert panel overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes ⚠
c.1109+223T>A Multiple submitters
c.1109+94A>G Multiple submitters
c.1416+11C>T Multiple submitters megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
c.1416+15G>A Multiple submitters megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
c.1417-114T>C Multiple submitters
c.1559+94G>A Multiple submitters
c.1809-17A>G Multiple submitters megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
c.1980-81A>G Multiple submitters
p.Ala281= Multiple submitters megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
p.Ala548Val Multiple submitters megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
p.Ala727Thr Multiple submitters megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome ⚠
p.Arg35Gln Multiple submitters megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome ⚠
p.Asp662= Multiple submitters megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
p.Gln651= Multiple submitters megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
p.Leu694= Multiple submitters megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
p.Pro151Ser Multiple submitters megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome ⚠
p.Pro4Ser Multiple submitters megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
p.Ser313Pro Multiple submitters megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
p.Ser637= Multiple submitters megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
p.Thr709= Multiple submitters megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
c.1011-19A>G Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
c.1110-145G>A Single submitter
c.1110-16C>T Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
c.1416+14C>T Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
c.1417-87C>G Single submitter
c.1809-7A>C Single submitter
c.1809-7A>T Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
c.1809-8dup Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
c.1979+20G>A Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
c.1980-36C>T Single submitter
c.323-15del Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
c.323-16_323-15del Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
c.415+18dup Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
c.415+35G>A Single submitter
c.902-35G>A Single submitter
c.902-40C>T Single submitter
c.-423-241dup Single submitter
c.-423-242_-423-241dup Single submitter
c.*126T>A Single submitter
p.Arg539Cys Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome ⚠
p.Arg559His Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
p.Arg67Gln Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome ⚠
p.Arg717= Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
p.Asn561Ser Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome ⚠
p.Asp102Asn Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome ⚠
p.Asp334Glu Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome ⚠
p.Gln52Lys Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome ⚠
p.Gly443= Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
p.Gly625= Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
p.Pro260Ser Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome ⚠
p.Ser313= Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
p.Thr167Met Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome ⚠
p.Tyr405= Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
p.Val232Met Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome ⚠
p.Val716Leu Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome ⚠

Benign/Likely benign 12

c.1560-17C>T Multiple submitters megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
c.1736+12C>T Multiple submitters megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
p.Ala104Asp Multiple submitters megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
p.Arg101His Multiple submitters Inborn genetic diseases ⚠
p.Asn341= Multiple submitters megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
p.His291Arg Multiple submitters megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
p.Ile646= Multiple submitters megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
p.Pro723Leu Multiple submitters megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome ⚠
p.Pro97= Multiple submitters megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
p.Ser273Cys Multiple submitters megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome ⚠
p.Ser397= Multiple submitters megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
p.Thr540= Multiple submitters megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome

Likely benign 170

c.322+7A>G Expert panel overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
p.Glu543= Expert panel overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
p.Pro107Leu Expert panel overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes ⚠
c.1291-11C>T Multiple submitters megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
c.1980-5C>T Multiple submitters megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
c.816-8C>T Multiple submitters megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
c.-18C>T Multiple submitters
c.*6G>A Multiple submitters
p.Arg65Gln Multiple submitters megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
p.Glu609= Multiple submitters megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
p.Gly42= Multiple submitters megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
p.Leu209= Multiple submitters megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
p.Leu614= Multiple submitters megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
p.Leu712= Multiple submitters megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
p.Pro14= Multiple submitters megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
p.Pro724= Multiple submitters megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
p.Pro80= Multiple submitters megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
p.Val716= Multiple submitters
c.1010+11G>T Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
c.1010+18G>A Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
c.1010+19G>T Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
c.1010+3A>G Single submitter megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
c.1109+14C>T Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
c.1109+7G>T Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
c.1110-10C>A Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
c.1110-3C>A Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
c.1110-4C>T Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
c.1290+12C>T Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
c.1290+19G>A Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
c.1291-10G>A Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
c.1291-15G>A Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
c.1291-16C>T Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
c.1416+86T>C Single submitter
c.1417-11C>T Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
c.1417-14G>C Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
c.1559+10G>A Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
c.1559+11C>T Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
c.1559+12G>A Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
c.1560-16C>G Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
c.1560-18A>G Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
c.1560-213T>G Single submitter
c.1736+10G>A Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
c.1737-146G>C Single submitter
c.1737-67G>A Single submitter
c.1809-6C>T Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
c.1809-8C>A Single submitter
c.1979+12G>A Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
c.1980-28C>T Single submitter
c.1980-4A>C Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
c.322+18G>C Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
c.322+18G>T Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
c.322+223C>T Single submitter
c.323-205A>C Single submitter
c.323-8C>T Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
c.415+17C>T Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
c.415+8C>T Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
c.416-10T>C Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
c.416-4C>T Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
c.416-5C>G Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
c.466+11G>T Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
c.466+17A>G Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
c.466+20G>C Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
c.467-11T>C Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
c.467-17C>T Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
c.467-5C>T Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
c.467-6C>T Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
c.598+15T>C Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
c.599-12A>G Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
c.816-9C>T Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
c.902-10T>G Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
c.902-11C>T Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
c.902-17G>A Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
p.Ala124= Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
p.Ala2= Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
p.Ala301= Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
p.Ala36= Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
p.Ala40= Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
p.Ala44= Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
p.Ala480= Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
p.Ala656= Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
p.Arg101Cys Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome ⚠
p.Arg16= Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
p.Arg19= Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
p.Arg19Trp Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome ⚠
p.Arg345= Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
p.Arg571= Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
p.Arg63Cys Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome ⚠
p.Arg89= Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
p.Arg89Cys Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome ⚠
p.Asp156= Single submitter
p.Asp166= Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
p.Asp29= Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
p.Asp356Asn Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome ⚠
p.Asp610= Single submitter
p.Cys668Trp Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
p.Gln494Ter Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
p.Glu133= Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
p.Glu285= Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
p.Glu296= Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
p.Glu408= Single submitter
p.Glu537= Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
p.Glu555= Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
p.Glu62= Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
p.Gly206= Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
p.Gly350Val Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
p.Gly46= Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
p.Gly47= Single submitter
p.Gly495= Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
p.Gly59= Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
p.Gly72= Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
p.His145= Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
p.His536= Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
p.His695= Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
p.His698= Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
p.Ile556= Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
p.Leu109= Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
p.Leu114= Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
p.Leu12= Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
p.Leu127Phe Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome ⚠
p.Leu292= Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
p.Leu31= Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
p.Leu325= Single submitter
p.Leu344= Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
p.Leu410= Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
p.Leu506= Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
p.Leu692= Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
p.Lys308= Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
p.Phe224= Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
p.Phe509= Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
p.Phe677= Single submitter
p.Phe679= Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
p.Pro115= Single submitter
p.Pro151= Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
p.Pro182= Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
p.Pro20= Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
p.Pro261_Ser262insProPro Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
p.Pro27= Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
p.Pro277= Single submitter
p.Pro303= Single submitter
p.Pro348= Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
p.Pro58= Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
p.Pro615= Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
p.Pro725Ser Single submitter Inborn genetic diseases ⚠
p.Pro86= Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
p.Pro88= Single submitter
p.Pro95= Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
p.Ser438= Single submitter
p.Ser525= Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
p.Ser53= Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
p.Ser658= Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
p.Thr167Arg Single submitter
p.Thr314= Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
p.Thr368= Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
p.Thr394= Single submitter
p.Thr470= Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
p.Thr630= Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
p.Thr711= Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
p.Tyr387= Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
p.Tyr460= Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
p.Tyr467= Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
p.Tyr605= Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
p.Tyr683= Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
p.Val297= Single submitter
p.Val380= Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
p.Val439= Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
p.Val81Met Single submitter ⚠
c.1416+8A>C No assertion criteria PIK3R2-related disorder
p.Asp664= No assertion criteria PIK3R2-related disorder
p.Glu24= No assertion criteria PIK3R2-related disorder
p.Pro721= No assertion criteria PIK3R2-related disorder

Uncertain significance 212

c.1290+4C>T Multiple submitters megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
p.Ala298Val Multiple submitters megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome ⚠
p.Ala40Val Multiple submitters megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome ⚠
p.Ala707Val Multiple submitters megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome ⚠
p.Ala718Val Multiple submitters megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome ⚠
p.Ala98Thr Multiple submitters megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome ⚠
p.Arg10His Multiple submitters megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ⚠
p.Arg16Gly Multiple submitters Inborn genetic diseases ⚠
p.Arg35Trp Multiple submitters megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome ⚠
p.Arg406Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg49Cys Multiple submitters megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome ⚠
p.Arg511His Multiple submitters megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome ⚠
p.Arg547Gln Multiple submitters megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome ⚠
p.Arg652Gln Multiple submitters PIK3R2-related disorder ⚠
p.Arg85Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg89His Multiple submitters megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome ⚠
p.Arg94Cys Multiple submitters megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome ⚠
p.Asp102Ala Multiple submitters Inborn genetic diseases ⚠
p.Asp161Asn Multiple submitters megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome ⚠
p.Gly28Ser Multiple submitters Inborn genetic diseases ⚠
p.Gly87fs Multiple submitters megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
p.Gly92Cys Multiple submitters Inborn genetic diseases ⚠
p.His698Pro Multiple submitters ⚠
p.Ile335Val Multiple submitters Inborn genetic diseases ⚠
p.Leu159Pro Multiple submitters Inborn genetic diseases ⚠
p.Leu185Val Multiple submitters megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ⚠
p.Pro20Leu Multiple submitters megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome ⚠
p.Pro266_Gly267insProSerSerProProPro Multiple submitters PIK3R2-related disorder
p.Pro322Leu Multiple submitters megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome ⚠
p.Pro348Thr Multiple submitters megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome ⚠
p.Pro51Ala Multiple submitters Inborn genetic diseases ⚠
p.Pro719Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro95_Leu96insArgGlyProArgPro Multiple submitters
p.Pro95Leu Multiple submitters Inborn genetic diseases ⚠
p.Ser53Thr Multiple submitters megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ⚠
p.Thr394Ala Multiple submitters megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome ⚠
p.Tyr655Cys Multiple submitters megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome ⚠
p.Val232Gly Multiple submitters Inborn genetic diseases ⚠
p.Val398Ile Multiple submitters megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome ⚠
c.1011-2A>T Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
c.1109+1G>A Single submitter megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
c.1290+1G>A Single submitter
c.1291-11C>G Single submitter
c.1291-11del Single submitter
c.1559+1G>T Single submitter
c.1736+5G>C Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
c.1736+6T>G Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
c.1809-3_1809-2insCCCCCCG Single submitter megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
c.1980-16_1980-3del Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
c.416-3C>T Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
c.816-4_819delinsACTC Single submitter
c.-5C>T Single submitter
c.-6G>A Single submitter
p.Ala11Ser Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome ⚠
p.Ala317Thr Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome ⚠
p.Ala444Thr Single submitter ⚠
p.Ala548Thr Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome ⚠
p.Ala606Ser Single submitter ⚠
p.Ala632Thr Single submitter ⚠
p.Ala713Val Single submitter Inborn genetic diseases ⚠
p.Ala718Asp Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome ⚠
p.Ala718Ser Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome ⚠
p.Ala98Ser Single submitter PIK3R2-related disorder ⚠
p.Arg137Gly Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome ⚠
p.Arg137Lys Single submitter Inborn genetic diseases ⚠
p.Arg147Leu Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome ⚠
p.Arg154Gly Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
p.Arg19Gln Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome ⚠
p.Arg345Gln Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome ⚠
p.Arg355Gln Single submitter ⚠
p.Arg406Gly Single submitter ⚠
p.Arg420Gln Single submitter PIK3R2-related disorder ⚠
p.Arg458Leu Single submitter Inborn genetic diseases ⚠
p.Arg508His Single submitter megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ⚠
p.Arg510Gln Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome ⚠
p.Arg527Leu Single submitter Inborn genetic diseases ⚠
p.Arg559Cys Single submitter overgrowth syndrome ⚠
p.Arg559Leu Single submitter Inborn genetic diseases ⚠
p.Arg574Ter Single submitter
p.Arg620Cys Single submitter Inborn genetic diseases ⚠
p.Arg65Trp Single submitter ⚠
p.Arg67Ter Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
p.Arg728His Single submitter ⚠
p.Arg728Leu Single submitter ⚠
p.Asn375Ser Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome ⚠
p.Asn485Ser Single submitter ⚠
p.Asn592Ser Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome ⚠
p.Asn628Lys Single submitter Inborn genetic diseases ⚠
p.Asn628Ser Single submitter megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ⚠
p.Asp113Ala Single submitter megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ⚠
p.Asp113Asn Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome ⚠
p.Asp141Glu Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome ⚠
p.Asp166His Single submitter megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ⚠
p.Asp557Asn Single submitter ⚠
p.Asp610Glu Single submitter ⚠
p.Asp612Glu Single submitter ⚠
p.Cys50Tyr Single submitter Inborn genetic diseases ⚠
p.Gln289= Single submitter megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
p.Gln289Arg Single submitter Inborn genetic diseases ⚠
p.Gln295Arg Single submitter ⚠
p.Gln295His Single submitter Inborn genetic diseases ⚠
p.Gln430Glu Single submitter megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ⚠
p.Gln454Arg Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome ⚠
p.Gln454Ter Single submitter megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
p.Gln519Arg Single submitter ⚠
p.Gln569His Single submitter ⚠
p.Glu116Lys Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome ⚠
p.Glu143Lys Single submitter Inborn genetic diseases ⚠
p.Glu274Ala Single submitter megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ⚠
p.Glu293Lys Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome ⚠
p.Glu342Asp Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome ⚠
p.Glu342Lys Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome ⚠
p.Glu466Lys Single submitter ⚠
p.Glu473Lys Single submitter ⚠
p.Glu486Asp Single submitter ⚠
p.Glu499Gln Single submitter ⚠
p.Glu515Lys Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome ⚠
p.Glu526Lys Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome ⚠
p.Glu534Gln Single submitter Inborn genetic diseases ⚠
p.Glu611Lys Single submitter Inborn genetic diseases ⚠
p.Glu62Lys Single submitter ⚠
p.Glu681Asp Single submitter megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ⚠
p.Glu691Asp Single submitter ⚠
p.Gly108Ser Single submitter ⚠
p.Gly203Val Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome ⚠
p.Gly247_Ala248insProAlaValArgAlaLeuGly Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
p.Gly59Ser Single submitter ⚠
p.Gly625Ser Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome ⚠
p.Gly653Ser Single submitter Inborn genetic diseases ⚠
p.Gly663Glu Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
p.Gly663Ser Single submitter Inborn genetic diseases ⚠
p.Gly720fs Single submitter
p.Gly87Ser Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome ⚠
p.His386Arg Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome ⚠
p.His404Pro Single submitter Inborn genetic diseases ⚠
p.His536Leu Single submitter Inborn genetic diseases ⚠
p.His616Tyr Single submitter Inborn genetic diseases ⚠
p.His667Arg Single submitter ⚠
p.His704Arg Single submitter ⚠
p.Leu109Phe Single submitter Inborn genetic diseases ⚠
p.Leu12Val Single submitter Inborn genetic diseases ⚠
p.Leu344Pro Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome ⚠
p.Leu353Arg Single submitter megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ⚠
p.Leu367Val Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome ⚠
p.Leu446Pro Single submitter Inborn genetic diseases ⚠
p.Leu546Pro Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome ⚠
p.Leu614Phe Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome ⚠
p.Leu694Gln Single submitter ⚠
p.Leu96Val Single submitter Inborn genetic diseases ⚠
p.Lys130Thr Single submitter ⚠
p.Lys371= Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
p.Lys447Glu Single submitter Inborn genetic diseases ⚠
p.Lys572Arg Single submitter ⚠
p.Met476Ile Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome ⚠
p.Met560Ile Single submitter ⚠
p.Met608Val Single submitter Inborn genetic diseases ⚠
p.Met635Thr Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome ⚠
p.Met635Val Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome ⚠
p.Phe352Cys Single submitter ⚠
p.Phe644fs Single submitter
p.Phe677Leu Single submitter Inborn genetic diseases ⚠
p.Pro100Ser Single submitter Inborn genetic diseases ⚠
p.Pro105Ser Single submitter ⚠
p.Pro112= Single submitter
p.Pro115Ser Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome ⚠
p.Pro153Arg Single submitter ⚠
p.Pro153Leu Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome ⚠
p.Pro303Leu Single submitter Inborn genetic diseases ⚠
p.Pro4fs Single submitter
p.Pro565Gln Single submitter megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ⚠
p.Pro682Thr Single submitter ⚠
p.Pro723Arg Single submitter ⚠
p.Pro725del Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
p.Pro93Leu Single submitter ⚠
p.Pro97Leu Single submitter Inborn genetic diseases ⚠
p.Ser191Glu Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
p.Ser262_Ser263insProSer Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
p.Ser263_Pro264insSer Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
p.Ser313Ala Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome ⚠
p.Ser321Asn Single submitter Inborn genetic diseases ⚠
p.Ser538Cys Single submitter ⚠
p.Ser551Leu Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome ⚠
p.Ser649Gly Single submitter Inborn genetic diseases ⚠
p.Ser688Leu Single submitter megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ⚠
p.Ser700fs Single submitter Inborn genetic diseases
p.Thr110Ala Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome ⚠
p.Thr110Arg Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome ⚠
p.Thr110Ile Single submitter Inborn genetic diseases ⚠
p.Thr673Met Single submitter Inborn genetic diseases ⚠
p.Thr675Ile Single submitter Inborn genetic diseases ⚠
p.Thr711Ser Single submitter Inborn genetic diseases ⚠
p.Trp622Ser Single submitter Inborn genetic diseases ⚠
p.Tyr331Cys Single submitter Inborn genetic diseases ⚠
p.Tyr505His Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome ⚠
p.Val123Met Single submitter ⚠
p.Val132Met Single submitter ⚠
p.Val30fs Single submitter megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
p.Val380_Phe381insLysVal Single submitter
p.Val398Leu Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome ⚠
p.Val43Met Single submitter megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ⚠
p.Val442Met Single submitter ⚠
p.Val448Ile Single submitter Inborn genetic diseases ⚠
p.Val579Met Single submitter Inborn genetic diseases ⚠
p.Val659= Single submitter megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
p.Val669Ile Single submitter ⚠
p.Val702_Gln703insLeuHisTyrGlnHisAlaSerLeuVal Single submitter
p.Val702Gly Single submitter ⚠
p.Val81fs Single submitter
p.Val81Leu Single submitter Inborn genetic diseases ⚠
c.816-6C>G No assertion criteria PIK3R2-related disorder
p.Asp161His No assertion criteria PIK3R2-related disorder ⚠
p.Gly92Val No assertion criteria PIK3R2-related disorder ⚠