PSEN2 — 348 ClinVar variants

All ClinVar germline PSEN2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 144 flagged for review →

7 Pathogenic · 1 Pathogenic/Likely pathogenic · 2 Likely pathogenic · 21 Conflicting · 31 Benign · 20 Benign/Likely benign · 97 Likely benign · 169 Uncertain significance

Full PSEN2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 144

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors agree, ClinVar conflicts 7

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

PSEN2 p.Arg284Gly Conflicting Single submitter
Alzheimer disease 4
PSEN2 p.Gln50Arg Conflicting Single submitter
dilated cardiomyopathy 1V
PSEN2 p.Gly34Ser Conflicting Single submitter
Alzheimer disease 4
PSEN2 p.Gly56Ser Conflicting Single submitter
Alzheimer disease 4
PSEN2 p.Gly70Arg Conflicting Single submitter
Alzheimer disease 4
PSEN2 p.Leu238Phe Conflicting Single submitter
Alzheimer disease 4
PSEN2 p.Pro69Ala Conflicting Single submitter
Alzheimer disease 4

Predictors lean, ClinVar uncertain 83

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

PSEN2 p.Ala237Val Uncertain significance Multiple submitters
PSEN2 p.Ala291Val Uncertain significance Multiple submitters
Alzheimer disease 4
PSEN2 p.Arg29Cys Uncertain significance Multiple submitters
Alzheimer disease 4
PSEN2 p.Arg435Gln Uncertain significance Multiple submitters
dilated cardiomyopathy 1V
PSEN2 p.Arg62Cys Uncertain significance Multiple submitters
Alzheimer disease 4
PSEN2 p.Asn137Ser Uncertain significance Multiple submitters
Inborn genetic diseases
PSEN2 p.Cys65Tyr Uncertain significance Multiple submitters
Alzheimer disease 4
PSEN2 p.Gly313Ser Uncertain significance Multiple submitters
dilated cardiomyopathy 1V
PSEN2 p.Gly84Arg Uncertain significance Multiple submitters
dilated cardiomyopathy 1V
PSEN2 p.Leu79Pro Uncertain significance Multiple submitters
Alzheimer disease 4
PSEN2 p.Thr27Met Uncertain significance Multiple submitters
Alzheimer disease 4
PSEN2 p.Thr301Met Uncertain significance Multiple submitters
Alzheimer disease 4
PSEN2 p.Thr430Met Uncertain significance Multiple submitters
Alzheimer disease 4
PSEN2 p.Val13Ala Uncertain significance Multiple submitters
Inborn genetic diseases
PSEN2 p.Val393Met Uncertain significance Multiple submitters
Alzheimer disease 4
PSEN2 p.Val68Ala Uncertain significance Multiple submitters
Alzheimer disease 4
PSEN2 p.Ala258Asp Uncertain significance Single submitter
Inborn genetic diseases
PSEN2 p.Ala281Asp Uncertain significance Single submitter
Alzheimer disease 4
PSEN2 p.Ala412Val Uncertain significance Single submitter
Alzheimer disease 4
PSEN2 p.Ala415Thr Uncertain significance Single submitter
Alzheimer disease 4
PSEN2 p.Ala45Asp Uncertain significance Single submitter
PSEN2 p.Ala6Thr Uncertain significance Single submitter
Alzheimer disease 4
PSEN2 p.Arg134His Uncertain significance Single submitter
Alzheimer disease 4
PSEN2 p.Arg163Cys Uncertain significance Single submitter
Alzheimer disease 4
PSEN2 p.Arg17Gln Uncertain significance Single submitter
PSEN2 p.Arg17Trp Uncertain significance Single submitter
PSEN2 p.Arg35Ser Uncertain significance Single submitter
PSEN2-related disorder
PSEN2 p.Asp127Asn Uncertain significance Single submitter
Alzheimer disease 4
PSEN2 p.Asp384Tyr Uncertain significance Single submitter
Alzheimer disease 4
PSEN2 p.Asp55Glu Uncertain significance Single submitter
Alzheimer disease 4
PSEN2 p.Gln228Leu Uncertain significance Single submitter
Alzheimer disease 4
PSEN2 p.Gly117Arg Uncertain significance Single submitter
Alzheimer disease 4
PSEN2 p.Gly313Ala Uncertain significance Single submitter
Alzheimer disease 4
PSEN2 p.Gly349Glu Uncertain significance Single submitter
Alzheimer disease 4
PSEN2 p.Gly34Val Uncertain significance Single submitter
Alzheimer disease 4
PSEN2 p.Gly383Glu Uncertain significance Single submitter
Inborn genetic diseases
PSEN2 p.His169Arg Uncertain significance Single submitter
PSEN2 p.Ile100Val Uncertain significance Single submitter
Alzheimer disease 4
PSEN2 p.Ile120Ser Uncertain significance Single submitter
Alzheimer disease 4
PSEN2 p.Ile168Val Uncertain significance Single submitter
Alzheimer disease 4
PSEN2 p.Ile293Leu Uncertain significance Single submitter
Alzheimer disease 4
PSEN2 p.Ile420Met Uncertain significance Single submitter
Inborn genetic diseases
PSEN2 p.Leu180Pro Uncertain significance Single submitter
Alzheimer disease 4
PSEN2 p.Leu238Pro Uncertain significance Single submitter
Alzheimer disease 4
PSEN2 p.Leu2Phe Uncertain significance Single submitter
Alzheimer disease 4
PSEN2 p.Leu399Phe Uncertain significance Single submitter
PSEN2 p.Lys222Thr Uncertain significance Single submitter
PSEN2 p.Phe211Tyr Uncertain significance Single submitter
PSEN2 p.Phe211Val Uncertain significance Single submitter
PSEN2 p.Phe243Leu Uncertain significance Single submitter
dilated cardiomyopathy 1V
PSEN2 p.Phe331Ser Uncertain significance Single submitter
Inborn genetic diseases
PSEN2 p.Pro123Leu Uncertain significance Single submitter
PSEN2 p.Pro224Leu Uncertain significance Single submitter
Alzheimer disease 4
PSEN2 p.Pro26Ser Uncertain significance Single submitter
Inborn genetic diseases
PSEN2 p.Pro28Leu Uncertain significance Single submitter
Alzheimer disease 4
PSEN2 p.Pro337Ser Uncertain significance Single submitter
Alzheimer disease 4
PSEN2 p.Pro342Ser Uncertain significance Single submitter
PSEN2 p.Pro348Leu Uncertain significance Single submitter
Alzheimer disease 4
PSEN2 p.Pro414Ser Uncertain significance Single submitter
Alzheimer disease 4
PSEN2 p.Pro436Leu Uncertain significance Single submitter
Alzheimer disease 4
PSEN2 p.Pro72Leu Uncertain significance Single submitter
Alzheimer disease 4
PSEN2 p.Pro73Ser Uncertain significance Single submitter
Inborn genetic diseases
PSEN2 p.Pro94Arg Uncertain significance Single submitter
Alzheimer disease 4
PSEN2 p.Ser22Leu Uncertain significance Single submitter
Alzheimer disease 4
PSEN2 p.Ser295Pro Uncertain significance Single submitter
Alzheimer disease 4
PSEN2 p.Ser30Phe Uncertain significance Single submitter
PSEN2 p.Ser310Pro Uncertain significance Single submitter
Alzheimer disease 4
PSEN2 p.Ser330Thr Uncertain significance Single submitter
PSEN2 p.Ser49Arg Uncertain significance Single submitter
Inborn genetic diseases
PSEN2 p.Ser9Gly Uncertain significance Single submitter
PSEN2 p.Thr184Ala Uncertain significance Single submitter
PSEN2 p.Thr3Lys Uncertain significance Single submitter
Alzheimer disease 4
PSEN2 p.Trp253Arg Uncertain significance Single submitter
Inborn genetic diseases
PSEN2 p.Trp47Gly Uncertain significance Single submitter
Alzheimer disease 4
PSEN2 p.Tyr121Cys Uncertain significance Single submitter
PSEN2 p.Tyr294Asp Uncertain significance Single submitter
Alzheimer disease 4
PSEN2 p.Tyr319Cys Uncertain significance Single submitter
Alzheimer disease 4
PSEN2 p.Tyr347Cys Uncertain significance Single submitter
PSEN2 p.Tyr63Cys Uncertain significance Single submitter
PSEN2 p.Val102Ala Uncertain significance Single submitter
Alzheimer disease 4
PSEN2 p.Val208Ile Uncertain significance Single submitter
Alzheimer disease 4
PSEN2 p.Val88Met Uncertain significance Single submitter
PSEN2 p.Ala377Val Uncertain significance No assertion criteria
PSEN2-related disorder

Predictors split 54

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

PSEN2 p.Ala258Thr Uncertain significance Multiple submitters
Alzheimer disease 4
PSEN2 p.Arg110Cys Uncertain significance Multiple submitters
Inborn genetic diseases
PSEN2 p.Asp439Ala Uncertain significance Multiple submitters
Alzheimer disease 4
PSEN2 p.Ile146Phe Uncertain significance Multiple submitters
Inborn genetic diseases
PSEN2 p.Leu81Phe Uncertain significance Multiple submitters
Alzheimer disease 4
PSEN2 p.Phe422Leu Uncertain significance Multiple submitters
Inborn genetic diseases
PSEN2 p.Pro334Arg Uncertain significance Multiple submitters
Alzheimer disease 4
PSEN2 p.Ser130Leu Benign/Likely benign Multiple submitters
Alzheimer disease 4
PSEN2 p.Thr18Met Uncertain significance Multiple submitters
Alzheimer disease 4
PSEN2 p.Thr380Met Uncertain significance Multiple submitters
Alzheimer disease 4
PSEN2 p.Thr387Ile Uncertain significance Multiple submitters
Alzheimer disease 4
PSEN2 p.Thr421Met Uncertain significance Multiple submitters
dilated cardiomyopathy 1V
PSEN2 p.Tyr195Cys Uncertain significance Multiple submitters
dilated cardiomyopathy 1V
PSEN2 p.Val103Ile Uncertain significance Multiple submitters
Alzheimer disease 4
PSEN2 p.Val197Met Uncertain significance Multiple submitters
Alzheimer disease 4
PSEN2 p.Ala252Thr Conflicting Single submitter
Alzheimer disease 4
PSEN2 p.Ala390Ser Uncertain significance Single submitter
Inborn genetic diseases
PSEN2 p.Asn285Ser Uncertain significance Single submitter
Alzheimer disease 4
PSEN2 p.Asn432His Uncertain significance Single submitter
Inborn genetic diseases
PSEN2 p.Asp439Gly Uncertain significance Single submitter
PSEN2 p.Gly132Val Uncertain significance Single submitter
PSEN2 p.Gly189Ala Uncertain significance Single submitter
Alzheimer disease 4
PSEN2 p.Gly257Ser Uncertain significance Single submitter
Alzheimer disease 4
PSEN2 p.Gly257Val Uncertain significance Single submitter
PSEN2 p.His444Tyr Uncertain significance Single submitter
Alzheimer disease 4
PSEN2 p.Ile233Val Uncertain significance Single submitter
Inborn genetic diseases
PSEN2 p.Ile288Met Uncertain significance Single submitter
Alzheimer disease 4
PSEN2 p.Ile397Thr Uncertain significance Single submitter
PSEN2 p.Leu143Phe Uncertain significance Single submitter
Alzheimer disease 4
PSEN2 p.Leu81Val Uncertain significance Single submitter
Inborn genetic diseases
PSEN2 p.Lys161Arg Uncertain significance Single submitter
Alzheimer disease 4
PSEN2 p.Lys271Arg Uncertain significance Single submitter
Alzheimer disease 4
PSEN2 p.Lys82Thr Uncertain significance Single submitter
PSEN2 p.Met298Thr Uncertain significance Single submitter
Alzheimer disease 4
PSEN2 p.Phe392Ile Uncertain significance Single submitter
Inborn genetic diseases
PSEN2 p.Phe92Leu Uncertain significance Single submitter
Alzheimer disease 4
PSEN2 p.Pro309His Uncertain significance Single submitter
PSEN2 p.Ser382Ile Uncertain significance Single submitter
Alzheimer disease 4
PSEN2 p.Ser7Pro Uncertain significance Single submitter
Inborn genetic diseases
PSEN2 p.Thr105Ile Uncertain significance Single submitter
PSEN2 p.Thr380Lys Conflicting Single submitter
Alzheimer disease 4
PSEN2 p.Thr388Met Likely benign Single submitter
Alzheimer disease 4
PSEN2 p.Thr430Ala Uncertain significance Single submitter
Inborn genetic diseases
PSEN2 p.Val139Met Conflicting Single submitter
Alzheimer disease 4
PSEN2 p.Val148Ile Uncertain significance Single submitter
Alzheimer disease 4
PSEN2 p.Val150Met Conflicting Single submitter
Huntington disease-like syndrome
PSEN2 p.Val265Met Uncertain significance Single submitter
Inborn genetic diseases
PSEN2 p.Val302Phe Uncertain significance Single submitter
PSEN2 p.Val360Met Uncertain significance Single submitter
PSEN2 p.Val434Leu Uncertain significance Single submitter
Alzheimer disease 4
PSEN2 p.Val93Met Uncertain significance Single submitter
Alzheimer disease 4
PSEN2 p.Asn141Asp Uncertain significance No assertion criteria
PSEN2-related disorder
PSEN2 p.Lys410Arg Uncertain significance No assertion criteria
Alzheimer disease 4
PSEN2 p.Met239Ile Pathogenic No assertion criteria
Alzheimer disease 4

All PSEN2 variants

Pathogenic 7

p.Asn141Ile Multiple submitters Alzheimer disease 4
p.Lys115fs Single submitter Alzheimer disease 4
p.Met239Val Single submitter Alzheimer disease 4
p.Ser175Phe Single submitter Alzheimer disease 4
p.Ala85Val No assertion criteria Alzheimer disease 4
p.Met239Ile No assertion criteria Alzheimer disease 4 ⚠
p.Thr122Arg No assertion criteria Alzheimer disease 4

Pathogenic/Likely pathogenic 1

p.Thr122Pro Multiple submitters Alzheimer disease 4

Likely pathogenic 2

c.356+2T>C Single submitter Alzheimer disease 4
c.886+2_886+4del Single submitter Alzheimer disease 4

Conflicting classifications of pathogenicity 21

c.*120G>A Single submitter dilated cardiomyopathy 1V
c.*306G>A Single submitter Alzheimer disease 4
p.Ala230= Single submitter Alzheimer disease 4
p.Ala237= Single submitter dilated cardiomyopathy 1V
p.Ala252Thr Single submitter Alzheimer disease 4 ⚠
p.Arg284Gly Single submitter Alzheimer disease 4 ⚠
p.Arg435= Single submitter Alzheimer disease 4
p.Gln50Arg Single submitter dilated cardiomyopathy 1V ⚠
p.Gly34Ser Single submitter Alzheimer disease 4 ⚠
p.Gly359= Single submitter Alzheimer disease 4
p.Gly56Ser Single submitter Alzheimer disease 4 ⚠
p.Gly70Arg Single submitter Alzheimer disease 4 ⚠
p.Gly74= Single submitter dilated cardiomyopathy 1V
p.Ile100= Single submitter Alzheimer disease 4
p.Leu238Phe Single submitter Alzheimer disease 4 ⚠
p.Pro318= Single submitter dilated cardiomyopathy 1V
p.Pro69Ala Single submitter Alzheimer disease 4 ⚠
p.Thr380Lys Single submitter Alzheimer disease 4 ⚠
p.Tyr112= Single submitter dilated cardiomyopathy 1V
p.Val139Met Single submitter Alzheimer disease 4 ⚠
p.Val150Met Single submitter Huntington disease-like syndrome ⚠

Benign 31

c.1073-86A>G Multiple submitters
c.1191+24G>A Multiple submitters dilated cardiomyopathy 1V
c.142-23C>T Multiple submitters
c.142-29T>C Multiple submitters dilated cardiomyopathy 1V
c.142-42G>A Multiple submitters dilated cardiomyopathy 1V
c.356+50A>G Multiple submitters
c.356+83A>C Multiple submitters
c.498+30G>C Multiple submitters Alzheimer disease 4
c.787+66C>A Multiple submitters
c.887-24T>C Multiple submitters dilated cardiomyopathy 1V
c.887-258T>A Multiple submitters
c.970+160C>G Multiple submitters
c.971-143G>C Multiple submitters
c.-275C>T Multiple submitters dilated cardiomyopathy 1V
c.-356A>G Multiple submitters dilated cardiomyopathy 1V
c.*270C>T Multiple submitters dilated cardiomyopathy 1V
p.Ala23= Multiple submitters dilated cardiomyopathy 1V
p.Asn141= Multiple submitters Alzheimer disease 4
p.Asn43= Multiple submitters dilated cardiomyopathy 1V
p.His87= Multiple submitters Alzheimer disease 4
c.1072+155C>T Single submitter
c.1072+169C>G Single submitter
c.1072+276G>A Single submitter
c.1191+279G>C Single submitter
c.356+146T>C Single submitter
c.566+125G>A Single submitter
c.566+201A>G Single submitter
c.787+205C>T Single submitter
c.788-90G>C Single submitter
c.886+233C>T Single submitter
c.-43C>T Single submitter dilated cardiomyopathy 1V

Benign/Likely benign 20

c.886+16G>A Multiple submitters Alzheimer disease 4
p.Ala252= Multiple submitters dilated cardiomyopathy 1V
p.Arg62His Multiple submitters Alzheimer disease
p.Arg71Trp Multiple submitters Alzheimer disease 4
p.Cys400= Multiple submitters Alzheimer disease 4
p.Glu54Asp Multiple submitters Alzheimer disease 4
p.His169Asn Multiple submitters Alzheimer disease 4
p.Met174Val Multiple submitters Alzheimer disease 4
p.Phe392= Multiple submitters Alzheimer disease 4
p.Pro287= Multiple submitters Alzheimer disease 4
p.Ser130Leu Multiple submitters Alzheimer disease 4 ⚠
p.Ser147= Multiple submitters dilated cardiomyopathy 1V
p.Ser236= Multiple submitters dilated cardiomyopathy 1V
p.Ser251= Multiple submitters Alzheimer disease 4
p.Thr122= Multiple submitters Alzheimer disease 4
p.Thr301= Multiple submitters dilated cardiomyopathy 1V
p.Thr44= Multiple submitters Alzheimer disease 4
p.Val214Leu Multiple submitters Alzheimer disease 4
c.*405G>T Single submitter dilated cardiomyopathy 1V
c.*487G>C Single submitter dilated cardiomyopathy 1V

Likely benign 97

c.141+11C>G Multiple submitters Alzheimer disease 4
c.141+30A>G Multiple submitters
c.499-121G>A Multiple submitters
c.566+61A>G Multiple submitters
c.566+80C>T Multiple submitters
p.Ala213= Multiple submitters Alzheimer disease 4
p.Asp55= Multiple submitters Alzheimer disease 4
p.Gly257= Multiple submitters
p.Gly423= Multiple submitters Alzheimer disease 4
p.His169= Multiple submitters
p.Leu364= Multiple submitters Inborn genetic diseases
p.Pro28= Multiple submitters
p.Pro414= Multiple submitters Alzheimer disease 4
p.Pro69= Multiple submitters Alzheimer disease 4
p.Ser138= Multiple submitters
p.Ser22= Multiple submitters Alzheimer disease 4
p.Val93= Multiple submitters Alzheimer disease 4
c.1072+128C>T Single submitter
c.1072+98G>A Single submitter
c.1073-10C>G Single submitter Alzheimer disease 4
c.1073-10C>T Single submitter Alzheimer disease 4
c.1191+104C>T Single submitter
c.1191+18C>T Single submitter
c.1191+8G>C Single submitter Alzheimer disease 4
c.1192-4G>T Single submitter
c.141+13A>G Single submitter Alzheimer disease 4
c.141+15C>T Single submitter Alzheimer disease 4
c.141+58A>G Single submitter
c.142-16A>C Single submitter Alzheimer disease 4
c.142-17G>A Single submitter Alzheimer disease 4
c.142-4A>G Single submitter Alzheimer disease 4
c.356+11_356+13del Single submitter Alzheimer disease 4
c.356+16G>A Single submitter
c.499-20G>A Single submitter Alzheimer disease 4
c.566+57G>A Single submitter
c.787+245del Single submitter
c.787+245dup Single submitter
c.787+8G>A Single submitter Alzheimer disease 4
c.788-14C>T Single submitter Alzheimer disease 4
c.886+15C>T Single submitter Alzheimer disease 4
c.886+9G>C Single submitter
c.887-4C>G Single submitter Alzheimer disease 4
c.971-18C>T Single submitter Alzheimer disease 4
c.971-9G>C Single submitter Alzheimer disease 4
c.-338A>G Single submitter dilated cardiomyopathy 1V
p.Ala281= Single submitter Alzheimer disease 4
p.Ala305= Single submitter Alzheimer disease 4
p.Ala378= Single submitter
p.Ala412= Single submitter Alzheimer disease 4
p.Ala85= Single submitter Alzheimer disease 4
p.Arg435Trp Single submitter Alzheimer disease 4
p.Asn116= Single submitter Alzheimer disease 4
p.Asn196= Single submitter Alzheimer disease 4
p.Asn285= Single submitter
p.Asn52= Single submitter Alzheimer disease 4
p.Asp40= Single submitter
p.Asp59= Single submitter Alzheimer disease 4
p.Cys98= Single submitter Alzheimer disease 4
p.Glu341= Single submitter Alzheimer disease 4
p.Glu39= Single submitter
p.Gly67= Single submitter Alzheimer disease 4
p.Ile173= Single submitter Alzheimer disease 4
p.Ile235= Single submitter Alzheimer disease 4
p.Leu143= Single submitter Alzheimer disease 4
p.Leu179= Single submitter Alzheimer disease 4
p.Leu268= Single submitter
p.Leu403= Single submitter Alzheimer disease 4
p.Leu424= Single submitter
p.Leu91= Single submitter Alzheimer disease 4
p.Phe124= Single submitter Alzheimer disease 4
p.Phe211= Single submitter Alzheimer disease 4
p.Phe422= Single submitter Alzheimer disease 4
p.Phe428= Single submitter Alzheimer disease 4
p.Pro129= Single submitter Alzheimer disease 4
p.Pro248= Single submitter Alzheimer disease 4
p.Pro337= Single submitter Alzheimer disease 4
p.Pro343= Single submitter
p.Pro72= Single submitter Alzheimer disease 4
p.Pro73= Single submitter
p.Ser130= Single submitter Alzheimer disease 4
p.Ser335= Single submitter Alzheimer disease 4
p.Ser382= Single submitter Alzheimer disease 4
p.Ser419= Single submitter Alzheimer disease 4
p.Thr18= Single submitter Alzheimer disease 4
p.Thr345= Single submitter Alzheimer disease 4
p.Thr380= Single submitter Alzheimer disease 4
p.Thr388= Single submitter
p.Thr388Met Single submitter Alzheimer disease 4 ⚠
p.Thr402= Single submitter
p.Thr421= Single submitter Alzheimer disease 4
p.Tyr121= Single submitter Alzheimer disease 4
p.Tyr83= Single submitter
p.Val102= Single submitter Alzheimer disease 4
p.Val261Leu Single submitter
p.Pro202= No assertion criteria
p.Thr125= No assertion criteria PSEN2-related disorder
p.Tyr231= No assertion criteria PSEN2-related disorder

Uncertain significance 169

c.970+3_970+6del Multiple submitters Alzheimer disease 4
c.*20G>A Multiple submitters Alzheimer disease 4
p.Ala237Val Multiple submitters ⚠
p.Ala258Thr Multiple submitters Alzheimer disease 4 ⚠
p.Ala291Val Multiple submitters Alzheimer disease 4 ⚠
p.Arg110Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg29Cys Multiple submitters Alzheimer disease 4 ⚠
p.Arg435Gln Multiple submitters dilated cardiomyopathy 1V ⚠
p.Arg62Cys Multiple submitters Alzheimer disease 4 ⚠
p.Asn137Ser Multiple submitters Inborn genetic diseases ⚠
p.Asp439Ala Multiple submitters Alzheimer disease 4 ⚠
p.Cys65Tyr Multiple submitters Alzheimer disease 4 ⚠
p.Gly313Ser Multiple submitters dilated cardiomyopathy 1V ⚠
p.Gly84Arg Multiple submitters dilated cardiomyopathy 1V ⚠
p.Ile146Phe Multiple submitters Inborn genetic diseases ⚠
p.Leu79Pro Multiple submitters Alzheimer disease 4 ⚠
p.Leu81Phe Multiple submitters Alzheimer disease 4 ⚠
p.Phe422Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro334Arg Multiple submitters Alzheimer disease 4 ⚠
p.Thr18Met Multiple submitters Alzheimer disease 4 ⚠
p.Thr27Met Multiple submitters Alzheimer disease 4 ⚠
p.Thr301Met Multiple submitters Alzheimer disease 4 ⚠
p.Thr380Met Multiple submitters Alzheimer disease 4 ⚠
p.Thr387Ile Multiple submitters Alzheimer disease 4 ⚠
p.Thr421Met Multiple submitters dilated cardiomyopathy 1V ⚠
p.Thr430Met Multiple submitters Alzheimer disease 4 ⚠
p.Tyr195Cys Multiple submitters dilated cardiomyopathy 1V ⚠
p.Val103Ile Multiple submitters Alzheimer disease 4 ⚠
p.Val13Ala Multiple submitters Inborn genetic diseases ⚠
p.Val197Met Multiple submitters Alzheimer disease 4 ⚠
p.Val393Met Multiple submitters Alzheimer disease 4 ⚠
p.Val68Ala Multiple submitters Alzheimer disease 4 ⚠
c.499-10T>C Single submitter Alzheimer disease 4
c.499-15A>G Single submitter Alzheimer disease 4
c.887-3C>T Single submitter Alzheimer disease 4
c.970+3G>T Single submitter Alzheimer disease 4
c.-136G>A Single submitter dilated cardiomyopathy 1V
c.-144A>G Single submitter dilated cardiomyopathy 1V
c.-184C>T Single submitter Alzheimer disease 4
c.-21+2dup Single submitter
c.-278C>A Single submitter Alzheimer disease 4
c.-278C>T Single submitter dilated cardiomyopathy 1V
c.-349-115A>G Single submitter
c.-5G>A Single submitter
c.-82T>C Single submitter dilated cardiomyopathy 1V
c.*103C>T Single submitter dilated cardiomyopathy 1V
c.*132T>C Single submitter dilated cardiomyopathy 1V
c.*210G>A Single submitter dilated cardiomyopathy 1V
c.*284T>A Single submitter dilated cardiomyopathy 1V
c.*377C>T Single submitter dilated cardiomyopathy 1V
c.*378G>C Single submitter dilated cardiomyopathy 1V
c.*479G>T Single submitter dilated cardiomyopathy 1V
c.*72T>C Single submitter dilated cardiomyopathy 1V
p.Ala258Asp Single submitter Inborn genetic diseases ⚠
p.Ala281Asp Single submitter Alzheimer disease 4 ⚠
p.Ala390Ser Single submitter Inborn genetic diseases ⚠
p.Ala412Val Single submitter Alzheimer disease 4 ⚠
p.Ala415= Single submitter dilated cardiomyopathy 1V
p.Ala415Thr Single submitter Alzheimer disease 4 ⚠
p.Ala45Asp Single submitter ⚠
p.Ala6Thr Single submitter Alzheimer disease 4 ⚠
p.Arg134His Single submitter Alzheimer disease 4 ⚠
p.Arg163Cys Single submitter Alzheimer disease 4 ⚠
p.Arg17Gln Single submitter ⚠
p.Arg17Trp Single submitter ⚠
p.Arg35Ser Single submitter PSEN2-related disorder ⚠
p.Asn116Lys Single submitter Alzheimer disease 4
p.Asn285Ser Single submitter Alzheimer disease 4 ⚠
p.Asn432His Single submitter Inborn genetic diseases ⚠
p.Asp127Asn Single submitter Alzheimer disease 4 ⚠
p.Asp384Tyr Single submitter Alzheimer disease 4 ⚠
p.Asp439Gly Single submitter ⚠
p.Asp55Glu Single submitter Alzheimer disease 4 ⚠
p.Cys98fs Single submitter
p.Gln228Leu Single submitter Alzheimer disease 4 ⚠
p.Glu11fs Single submitter
p.Gly117Arg Single submitter Alzheimer disease 4 ⚠
p.Gly132Val Single submitter ⚠
p.Gly189Ala Single submitter Alzheimer disease 4 ⚠
p.Gly257Ser Single submitter Alzheimer disease 4 ⚠
p.Gly257Val Single submitter ⚠
p.Gly313Ala Single submitter Alzheimer disease 4 ⚠
p.Gly349Glu Single submitter Alzheimer disease 4 ⚠
p.Gly34Val Single submitter Alzheimer disease 4 ⚠
p.Gly383Glu Single submitter Inborn genetic diseases ⚠
p.His169Arg Single submitter ⚠
p.His444Tyr Single submitter Alzheimer disease 4 ⚠
p.His87Arg Single submitter Alzheimer disease 4
p.His87Leu Single submitter Alzheimer disease 4
p.Ile100Val Single submitter Alzheimer disease 4 ⚠
p.Ile120Ser Single submitter Alzheimer disease 4 ⚠
p.Ile168Val Single submitter Alzheimer disease 4 ⚠
p.Ile233Val Single submitter Inborn genetic diseases ⚠
p.Ile288Met Single submitter Alzheimer disease 4 ⚠
p.Ile293Leu Single submitter Alzheimer disease 4 ⚠
p.Ile397Thr Single submitter ⚠
p.Ile420Met Single submitter Inborn genetic diseases ⚠
p.Leu143Phe Single submitter Alzheimer disease 4 ⚠
p.Leu180Pro Single submitter Alzheimer disease 4 ⚠
p.Leu238Pro Single submitter Alzheimer disease 4 ⚠
p.Leu2Phe Single submitter Alzheimer disease 4 ⚠
p.Leu399Phe Single submitter ⚠
p.Leu81Val Single submitter Inborn genetic diseases ⚠
p.Lys161Arg Single submitter Alzheimer disease 4 ⚠
p.Lys222Thr Single submitter ⚠
p.Lys271Arg Single submitter Alzheimer disease 4 ⚠
p.Lys82Thr Single submitter ⚠
p.Met1Arg Single submitter PSEN2-related disorder
p.Met298Thr Single submitter Alzheimer disease 4 ⚠
p.Met5Ile Single submitter Inborn genetic diseases
p.Phe211Tyr Single submitter ⚠
p.Phe211Val Single submitter ⚠
p.Phe243Leu Single submitter dilated cardiomyopathy 1V ⚠
p.Phe331Ser Single submitter Inborn genetic diseases ⚠
p.Phe392Ile Single submitter Inborn genetic diseases ⚠
p.Phe92Leu Single submitter Alzheimer disease 4 ⚠
p.Pro123Leu Single submitter ⚠
p.Pro224Leu Single submitter Alzheimer disease 4 ⚠
p.Pro26Ser Single submitter Inborn genetic diseases ⚠
p.Pro28Leu Single submitter Alzheimer disease 4 ⚠
p.Pro28Thr Single submitter Alzheimer disease 4
p.Pro309= Single submitter dilated cardiomyopathy 1V
p.Pro309His Single submitter ⚠
p.Pro337Ser Single submitter Alzheimer disease 4 ⚠
p.Pro342Ser Single submitter ⚠
p.Pro348Leu Single submitter Alzheimer disease 4 ⚠
p.Pro414Ser Single submitter Alzheimer disease 4 ⚠
p.Pro436= Single submitter Alzheimer disease 4
p.Pro436Leu Single submitter Alzheimer disease 4 ⚠
p.Pro72Leu Single submitter Alzheimer disease 4 ⚠
p.Pro73Ser Single submitter Inborn genetic diseases ⚠
p.Pro94Arg Single submitter Alzheimer disease 4 ⚠
p.Ser22Leu Single submitter Alzheimer disease 4 ⚠
p.Ser295Pro Single submitter Alzheimer disease 4 ⚠
p.Ser30Phe Single submitter ⚠
p.Ser310Pro Single submitter Alzheimer disease 4 ⚠
p.Ser330Thr Single submitter ⚠
p.Ser382Ile Single submitter Alzheimer disease 4 ⚠
p.Ser49Arg Single submitter Inborn genetic diseases ⚠
p.Ser7Pro Single submitter Inborn genetic diseases ⚠
p.Ser9Gly Single submitter ⚠
p.Thr105Ile Single submitter ⚠
p.Thr153fs Single submitter
p.Thr184Ala Single submitter ⚠
p.Thr3Lys Single submitter Alzheimer disease 4 ⚠
p.Thr430Ala Single submitter Inborn genetic diseases ⚠
p.Trp253Arg Single submitter Inborn genetic diseases ⚠
p.Trp47Gly Single submitter Alzheimer disease 4 ⚠
p.Trp47Ter Single submitter
p.Tyr121Cys Single submitter ⚠
p.Tyr294Asp Single submitter Alzheimer disease 4 ⚠
p.Tyr319Cys Single submitter Alzheimer disease 4 ⚠
p.Tyr347Cys Single submitter ⚠
p.Tyr347fs Single submitter Alzheimer disease 4
p.Tyr63Cys Single submitter ⚠
p.Val102Ala Single submitter Alzheimer disease 4 ⚠
p.Val148Ile Single submitter Alzheimer disease 4 ⚠
p.Val208Ile Single submitter Alzheimer disease 4 ⚠
p.Val265Met Single submitter Inborn genetic diseases ⚠
p.Val302Phe Single submitter ⚠
p.Val360Met Single submitter ⚠
p.Val434Leu Single submitter Alzheimer disease 4 ⚠
p.Val68_Gly70del Single submitter Alzheimer disease 4
p.Val88Met Single submitter ⚠
p.Val93Met Single submitter Alzheimer disease 4 ⚠
p.Ala377Val No assertion criteria PSEN2-related disorder ⚠
p.Asn141Asp No assertion criteria PSEN2-related disorder ⚠
p.Leu256fs No assertion criteria Alzheimer disease 4
p.Lys410Arg No assertion criteria Alzheimer disease 4 ⚠