ACE — 842 ClinVar variants

All ClinVar germline ACE variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 348 flagged for review →

25 Pathogenic · 8 Pathogenic/Likely pathogenic · 31 Likely pathogenic · 60 Conflicting · 63 Benign · 32 Benign/Likely benign · 202 Likely benign · 421 Uncertain significance

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

⚑ Evidence disagreements 348

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 18

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

ACE p.Arg1286His Conflicting Single submitter
microvascular complications of diabetes, susceptibility to, 3
ACE p.Arg1290Trp Conflicting Single submitter
Inborn genetic diseases
ACE p.Arg259His Conflicting Single submitter
renal tubular dysgenesis of genetic origin
ACE p.Arg410Gln Conflicting Single submitter
renal tubular dysgenesis
ACE p.Arg857His Conflicting Single submitter
hemorrhage, intracerebral, susceptibility to
ACE p.Asp353Asn Conflicting Single submitter
ACE p.Gln288Arg Conflicting Single submitter
renal tubular dysgenesis of genetic origin
ACE p.Gln47Arg Conflicting Single submitter
renal tubular dysgenesis
ACE p.Glu1046Lys Conflicting Single submitter
renal tubular dysgenesis of genetic origin
ACE p.Gly1241Ser Conflicting Single submitter
renal tubular dysgenesis
ACE p.Gly267Arg Conflicting Single submitter
renal tubular dysgenesis of genetic origin
ACE p.Leu1219Pro Conflicting Single submitter
microvascular complications of diabetes, susceptibility to, 3
ACE p.Met828Thr Conflicting Single submitter
renal tubular dysgenesis
ACE p.Pro505Ala Conflicting Single submitter
renal tubular dysgenesis
ACE p.Ser310Gly Conflicting Single submitter
microvascular complications of diabetes, susceptibility to, 3
ACE p.Ser660Cys Conflicting Single submitter
renal tubular dysgenesis of genetic origin
ACE p.Ser683Arg Conflicting Single submitter
hemorrhage, intracerebral, susceptibility to
ACE p.Val1069Ile Conflicting Single submitter
Inborn genetic diseases

Predictors lean, ClinVar uncertain 238

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 238

ACE p.Ala195Thr Uncertain significance Multiple submitters
renal tubular dysgenesis of genetic origin
ACE p.Ala225Ser Uncertain significance Multiple submitters
Inborn genetic diseases
ACE p.Ala361Thr Uncertain significance Multiple submitters
Inborn genetic diseases
ACE p.Ala363Val Uncertain significance Multiple submitters
microvascular complications of diabetes, susceptibility to, 3
ACE p.Ala515Ser Uncertain significance Multiple submitters
microvascular complications of diabetes, susceptibility to, 3
ACE p.Ala959Thr Uncertain significance Multiple submitters
microvascular complications of diabetes, susceptibility to, 3
ACE p.Ala961Pro Uncertain significance Multiple submitters
renal tubular dysgenesis of genetic origin
ACE p.Arg1209His Uncertain significance Multiple submitters
hemorrhage, intracerebral, susceptibility to
ACE p.Arg1232His Uncertain significance Multiple submitters
hemorrhage, intracerebral, susceptibility to
ACE p.Arg1284Cys Uncertain significance Multiple submitters
renal tubular dysgenesis of genetic origin
ACE p.Arg149Ser Uncertain significance Multiple submitters
microvascular complications of diabetes, susceptibility to, 3
ACE p.Arg180Gln Uncertain significance Multiple submitters
renal tubular dysgenesis of genetic origin
ACE p.Arg324Gln Uncertain significance Multiple submitters
microvascular complications of diabetes, susceptibility to, 3
ACE p.Arg482His Uncertain significance Multiple submitters
microvascular complications of diabetes, susceptibility to, 3
ACE p.Arg487His Uncertain significance Multiple submitters
hemorrhage, intracerebral, susceptibility to
ACE p.Arg508Gln Uncertain significance Multiple submitters
renal tubular dysgenesis
ACE p.Arg814Gln Uncertain significance Multiple submitters
Inborn genetic diseases
ACE p.Arg8Trp Uncertain significance Multiple submitters
microvascular complications of diabetes, susceptibility to, 3
ACE p.Asn1036Lys Uncertain significance Multiple submitters
microvascular complications of diabetes, susceptibility to, 3
ACE p.Asn671Ser Uncertain significance Multiple submitters
Inborn genetic diseases
ACE p.Asp441Asn Uncertain significance Multiple submitters
microvascular complications of diabetes, susceptibility to, 3
ACE p.Asp72Tyr Uncertain significance Multiple submitters
microvascular complications of diabetes, susceptibility to, 3
ACE p.Asp746Asn Uncertain significance Multiple submitters
Inborn genetic diseases
ACE p.Cys763Tyr Uncertain significance Multiple submitters
microvascular complications of diabetes, susceptibility to, 3
ACE p.Gln25Leu Uncertain significance Multiple submitters
Inborn genetic diseases
ACE p.Glu341Gln Uncertain significance Multiple submitters
renal tubular dysgenesis of genetic origin
ACE p.Glu341Lys Uncertain significance Multiple submitters
hemorrhage, intracerebral, susceptibility to
ACE p.Glu638Lys Uncertain significance Multiple submitters
Inborn genetic diseases
ACE p.Gly1164Arg Uncertain significance Multiple submitters
renal tubular dysgenesis of genetic origin
ACE p.Gly128Asp Uncertain significance Multiple submitters
renal tubular dysgenesis
ACE p.Gly197Asp Uncertain significance Multiple submitters
microvascular complications of diabetes, susceptibility to, 3
ACE p.Gly2Glu Uncertain significance Multiple submitters
microvascular complications of diabetes, susceptibility to, 3
ACE p.Gly618Ser Uncertain significance Multiple submitters
microvascular complications of diabetes, susceptibility to, 3
ACE p.Gly639Ser Uncertain significance Multiple submitters
microvascular complications of diabetes, susceptibility to, 3
ACE p.Gly865Arg Uncertain significance Multiple submitters
hemorrhage, intracerebral, susceptibility to
ACE p.His1293Tyr Uncertain significance Multiple submitters
microvascular complications of diabetes, susceptibility to, 3
ACE p.Ile420Thr Uncertain significance Multiple submitters
renal tubular dysgenesis of genetic origin
ACE p.Leu1024Phe Uncertain significance Multiple submitters
ACE-related disorder
ACE p.Leu168Pro Uncertain significance Multiple submitters
hemorrhage, intracerebral, susceptibility to
ACE p.Lys1030Asn Uncertain significance Multiple submitters
renal tubular dysgenesis of genetic origin
ACE p.Lys155Asn Uncertain significance Multiple submitters
renal tubular dysgenesis of genetic origin
ACE p.Lys571Asn Uncertain significance Multiple submitters
ACE-related disorder
ACE p.Lys601Arg Uncertain significance Multiple submitters
Inborn genetic diseases
ACE p.Lys922Glu Uncertain significance Multiple submitters
hemorrhage, intracerebral, susceptibility to
ACE p.Met1055Leu Uncertain significance Multiple submitters
microvascular complications of diabetes, susceptibility to, 3
ACE p.Pro115Arg Uncertain significance Multiple submitters
microvascular complications of diabetes, susceptibility to, 3
ACE p.Pro17Arg Uncertain significance Multiple submitters
hemorrhage, intracerebral, susceptibility to
ACE p.Pro23Ala Uncertain significance Multiple submitters
microvascular complications of diabetes, susceptibility to, 3
ACE p.Pro485Ala Uncertain significance Multiple submitters
hemorrhage, intracerebral, susceptibility to
ACE p.Pro485Arg Uncertain significance Multiple submitters
renal tubular dysgenesis
ACE p.Pro504Ser Uncertain significance Multiple submitters
microvascular complications of diabetes, susceptibility to, 3
ACE p.Ser1195Leu Uncertain significance Multiple submitters
Inborn genetic diseases
ACE p.Ser362Leu Uncertain significance Multiple submitters
microvascular complications of diabetes, susceptibility to, 3
ACE p.Thr447Ala Uncertain significance Multiple submitters
Inborn genetic diseases
ACE p.Thr697Asn Uncertain significance Multiple submitters
renal tubular dysgenesis of genetic origin
ACE p.Tyr527Cys Uncertain significance Multiple submitters
microvascular complications of diabetes, susceptibility to, 3
ACE p.Val1257Met Uncertain significance Multiple submitters
microvascular complications of diabetes, susceptibility to, 3
ACE p.Val406Ile Uncertain significance Multiple submitters
Inborn genetic diseases
ACE p.Val773Met Uncertain significance Multiple submitters
microvascular complications of diabetes, susceptibility to, 3
ACE p.Val856Met Uncertain significance Multiple submitters
renal tubular dysgenesis of genetic origin
ACE p.Ala1017Thr Uncertain significance Single submitter
renal tubular dysgenesis of genetic origin
ACE p.Ala1194Thr Uncertain significance Single submitter
ACE p.Ala1231Thr Uncertain significance Single submitter
ACE p.Ala1252Val Uncertain significance Single submitter
renal tubular dysgenesis of genetic origin
ACE p.Ala214Ser Uncertain significance Single submitter
renal tubular dysgenesis of genetic origin
ACE p.Ala27Val Uncertain significance Single submitter
ACE p.Ala731Val Uncertain significance Single submitter
Inborn genetic diseases
ACE p.Ala866Ser Uncertain significance Single submitter
ACE p.Ala885Val Uncertain significance Single submitter
Inborn genetic diseases
ACE p.Ala959Asp Uncertain significance Single submitter
renal tubular dysgenesis of genetic origin
ACE p.Arg1232Leu Uncertain significance Single submitter
ACE p.Arg1242His Uncertain significance Single submitter
ACE p.Arg1256His Uncertain significance Single submitter
ACE p.Arg1286Cys Uncertain significance Single submitter
renal tubular dysgenesis of genetic origin
ACE p.Arg137Gln Uncertain significance Single submitter
renal tubular dysgenesis of genetic origin
ACE p.Arg264His Uncertain significance Single submitter
renal tubular dysgenesis of genetic origin
ACE p.Arg369Gly Uncertain significance Single submitter
renal tubular dysgenesis of genetic origin
ACE p.Arg373Ser Uncertain significance Single submitter
renal tubular dysgenesis of genetic origin
ACE p.Arg379Gln Uncertain significance Single submitter
renal tubular dysgenesis of genetic origin
ACE p.Arg409Cys Uncertain significance Single submitter
renal tubular dysgenesis of genetic origin
ACE p.Arg409Leu Uncertain significance Single submitter
Inborn genetic diseases
ACE p.Arg410Trp Uncertain significance Single submitter
ACE p.Arg475Cys Uncertain significance Single submitter
Inborn genetic diseases
ACE p.Arg475Ser Uncertain significance Single submitter
renal tubular dysgenesis of genetic origin
ACE p.Arg482Leu Uncertain significance Single submitter
renal tubular dysgenesis of genetic origin
ACE p.Arg529Ser Uncertain significance Single submitter
renal tubular dysgenesis of genetic origin
ACE p.Arg658Gln Uncertain significance Single submitter
Inborn genetic diseases
ACE p.Arg705Lys Uncertain significance Single submitter
renal tubular dysgenesis of genetic origin
ACE p.Arg729Gln Uncertain significance Single submitter
ACE p.Arg729Trp Uncertain significance Single submitter
renal tubular dysgenesis of genetic origin
ACE p.Arg7Cys Uncertain significance Single submitter
renal tubular dysgenesis of genetic origin
ACE p.Arg7Leu Uncertain significance Single submitter
Inborn genetic diseases
ACE p.Arg840Gln Uncertain significance Single submitter
renal tubular dysgenesis of genetic origin
ACE p.Arg857Leu Uncertain significance Single submitter
renal tubular dysgenesis of genetic origin
ACE p.Arg8Leu Uncertain significance Single submitter
renal tubular dysgenesis of genetic origin
ACE p.Arg971Gln Uncertain significance Single submitter
renal tubular dysgenesis of genetic origin
ACE p.Asn1212Thr Uncertain significance Single submitter
ACE p.Asn305Ser Uncertain significance Single submitter
ACE p.Asn413Lys Uncertain significance Single submitter
Inborn genetic diseases
ACE p.Asn617His Uncertain significance Single submitter
renal tubular dysgenesis of genetic origin
ACE p.Asn942Lys Uncertain significance Single submitter
ACE p.Asp1020Gly Uncertain significance Single submitter
renal tubular dysgenesis of genetic origin
ACE p.Asp1045Asn Uncertain significance Single submitter
renal tubular dysgenesis
ACE p.Asp1058Asn Uncertain significance Single submitter
renal tubular dysgenesis of genetic origin
ACE p.Asp1070His Uncertain significance Single submitter
Inborn genetic diseases
ACE p.Asp1249Ala Uncertain significance Single submitter
Inborn genetic diseases
ACE p.Asp302Gly Uncertain significance Single submitter
Inborn genetic diseases
ACE p.Asp422Asn Uncertain significance Single submitter
renal tubular dysgenesis of genetic origin
ACE p.Asp42Asn Uncertain significance Single submitter
renal tubular dysgenesis of genetic origin
ACE p.Asp514Asn Uncertain significance Single submitter
renal tubular dysgenesis
ACE p.Asp592Asn Uncertain significance Single submitter
renal tubular dysgenesis of genetic origin
ACE p.Asp769Gly Uncertain significance Single submitter
renal tubular dysgenesis of genetic origin
ACE p.Cys359Trp Uncertain significance Single submitter
Inborn genetic diseases
ACE p.Cys557Arg Uncertain significance Single submitter
ACE p.Cys975Tyr Uncertain significance Single submitter
renal tubular dysgenesis of genetic origin
ACE p.Gln1135Lys Uncertain significance Single submitter
renal tubular dysgenesis of genetic origin
ACE p.Gln139Glu Uncertain significance Single submitter
Inborn genetic diseases
ACE p.Gln376Arg Uncertain significance Single submitter
Inborn genetic diseases
ACE p.Gln473Lys Uncertain significance Single submitter
renal tubular dysgenesis of genetic origin
ACE p.Gln500Arg Uncertain significance Single submitter
Inborn genetic diseases
ACE p.Gln63His Uncertain significance Single submitter
renal tubular dysgenesis of genetic origin
ACE p.Gln998Arg Uncertain significance Single submitter
Inborn genetic diseases
ACE p.Glu1140Lys Uncertain significance Single submitter
renal tubular dysgenesis of genetic origin
ACE p.Glu190Gly Uncertain significance Single submitter
renal tubular dysgenesis of genetic origin
ACE p.Glu205Lys Uncertain significance Single submitter
Inborn genetic diseases
ACE p.Glu349Ala Uncertain significance Single submitter
renal tubular dysgenesis of genetic origin
ACE p.Glu356Lys Uncertain significance Single submitter
renal tubular dysgenesis of genetic origin
ACE p.Glu666Lys Uncertain significance Single submitter
Inborn genetic diseases
ACE p.Glu669Gly Uncertain significance Single submitter
renal tubular dysgenesis of genetic origin
ACE p.Glu681Asp Uncertain significance Single submitter
Inborn genetic diseases
ACE p.Glu92Val Uncertain significance Single submitter
Inborn genetic diseases
ACE p.Glu989Gly Uncertain significance Single submitter
ACE p.Gly1013Ser Uncertain significance Single submitter
renal tubular dysgenesis of genetic origin
ACE p.Gly1150Cys Uncertain significance Single submitter
renal tubular dysgenesis of genetic origin
ACE p.Gly1275Ser Uncertain significance Single submitter
Inborn genetic diseases
ACE p.Gly1298Cys Uncertain significance Single submitter
ACE p.Gly283Arg Uncertain significance Single submitter
renal tubular dysgenesis of genetic origin
ACE p.Gly37Arg Uncertain significance Single submitter
renal tubular dysgenesis of genetic origin
ACE p.Gly438Ser Uncertain significance Single submitter
renal tubular dysgenesis of genetic origin
ACE p.Gly566Arg Uncertain significance Single submitter
renal tubular dysgenesis of genetic origin
ACE p.Gly576Ala Uncertain significance Single submitter
ACE p.Gly639Val Uncertain significance Single submitter
ACE p.Gly6Ser Uncertain significance Single submitter
renal tubular dysgenesis of genetic origin
ACE p.Gly932Arg Uncertain significance Single submitter
renal tubular dysgenesis of genetic origin
ACE p.Gly98Ser Uncertain significance Single submitter
renal tubular dysgenesis of genetic origin
ACE p.Gly9Arg Uncertain significance Single submitter
renal tubular dysgenesis
ACE p.His1047Arg Uncertain significance Single submitter
renal tubular dysgenesis of genetic origin
ACE p.His1139Asp Uncertain significance Single submitter
Inborn genetic diseases
ACE p.His1153Tyr Uncertain significance Single submitter
renal tubular dysgenesis of genetic origin
ACE p.His193Arg Uncertain significance Single submitter
renal tubular dysgenesis of genetic origin

Predictors split 92

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

ACE p.Ala154Thr Benign Multiple submitters
renal tubular dysgenesis
ACE p.Ala730Glu Uncertain significance Multiple submitters
microvascular complications of diabetes, susceptibility to, 3
ACE p.Arg1166His Uncertain significance Multiple submitters
hemorrhage, intracerebral, susceptibility to
ACE p.Arg1256Cys Uncertain significance Multiple submitters
microvascular complications of diabetes, susceptibility to, 3
ACE p.Arg324Trp Benign/Likely benign Multiple submitters
renal tubular dysgenesis
ACE p.Arg355Gln Uncertain significance Multiple submitters
renal tubular dysgenesis of genetic origin
ACE p.Arg379Trp Uncertain significance Multiple submitters
microvascular complications of diabetes, susceptibility to, 3
ACE p.Arg482Cys Uncertain significance Multiple submitters
renal tubular dysgenesis of genetic origin
ACE p.Arg482Pro Uncertain significance Multiple submitters
renal tubular dysgenesis of genetic origin
ACE p.Arg561Trp Benign/Likely benign Multiple submitters
hemorrhage, intracerebral, susceptibility to
ACE p.Arg862His Uncertain significance Multiple submitters
hemorrhage, intracerebral, susceptibility to
ACE p.Asn160Ser Benign/Likely benign Multiple submitters
renal tubular dysgenesis
ACE p.Gly354Arg Benign/Likely benign Multiple submitters
renal tubular dysgenesis
ACE p.Lys201Thr Uncertain significance Multiple submitters
renal tubular dysgenesis of genetic origin
ACE p.Phe1201Leu Uncertain significance Multiple submitters
renal tubular dysgenesis of genetic origin
ACE p.Pro803Leu Uncertain significance Multiple submitters
microvascular complications of diabetes, susceptibility to, 3
ACE p.Thr381Met Likely benign Multiple submitters
renal tubular dysgenesis of genetic origin
ACE p.Thr447Met Uncertain significance Multiple submitters
microvascular complications of diabetes, susceptibility to, 3
ACE p.Thr563Ile Uncertain significance Multiple submitters
Inborn genetic diseases
ACE p.Thr916Met Benign/Likely benign Multiple submitters
renal tubular dysgenesis of genetic origin
ACE p.Tyr244Cys Benign/Likely benign Multiple submitters
renal tubular dysgenesis
ACE p.Val423Met Uncertain significance Multiple submitters
microvascular complications of diabetes, susceptibility to, 3
ACE p.Val978Met Uncertain significance Multiple submitters
ACE-related disorder
ACE p.Ala101Thr Uncertain significance Single submitter
renal tubular dysgenesis of genetic origin
ACE p.Ala154Val Uncertain significance Single submitter
renal tubular dysgenesis of genetic origin
ACE p.Ala543Thr Uncertain significance Single submitter
renal tubular dysgenesis of genetic origin
ACE p.Ala704Gly Uncertain significance Single submitter
renal tubular dysgenesis of genetic origin
ACE p.Arg1166Gly Uncertain significance Single submitter
renal tubular dysgenesis of genetic origin
ACE p.Arg118Leu Uncertain significance Single submitter
renal tubular dysgenesis
ACE p.Arg1209Cys Uncertain significance Single submitter
renal tubular dysgenesis of genetic origin
ACE p.Arg1242Cys Uncertain significance Single submitter
renal tubular dysgenesis of genetic origin
ACE p.Arg125Pro Uncertain significance Single submitter
renal tubular dysgenesis of genetic origin
ACE p.Arg1279Pro Uncertain significance Single submitter
renal tubular dysgenesis of genetic origin
ACE p.Arg137Trp Uncertain significance Single submitter
renal tubular dysgenesis of genetic origin
ACE p.Arg228Cys Conflicting Single submitter
renal tubular dysgenesis
ACE p.Arg442Cys Uncertain significance Single submitter
renal tubular dysgenesis of genetic origin
ACE p.Arg487Cys Conflicting Single submitter
renal tubular dysgenesis of genetic origin
ACE p.Arg719Gln Uncertain significance Single submitter
ACE p.Arg81Gly Uncertain significance Single submitter
ACE p.Arg840Trp Uncertain significance Single submitter
renal tubular dysgenesis of genetic origin
ACE p.Arg953Gln Conflicting Single submitter
renal tubular dysgenesis
ACE p.Asn677Ser Uncertain significance Single submitter
ACE p.Asn710Ile Uncertain significance Single submitter
renal tubular dysgenesis of genetic origin
ACE p.Asn74Asp Uncertain significance Single submitter
ACE-related disorder
ACE p.Asn851Lys Uncertain significance Single submitter
renal tubular dysgenesis of genetic origin
ACE p.Asn882Ser Uncertain significance Single submitter
Inborn genetic diseases
ACE p.Asp1048Gly Uncertain significance Single submitter
Inborn genetic diseases
ACE p.Asp239Tyr Uncertain significance Single submitter
renal tubular dysgenesis of genetic origin
ACE p.Asp295His Uncertain significance Single submitter
renal tubular dysgenesis of genetic origin
ACE p.Asp592Val Uncertain significance Single submitter
ACE p.Asp641Val Uncertain significance Single submitter
renal tubular dysgenesis of genetic origin
ACE p.Asp708Tyr Uncertain significance Single submitter
Inborn genetic diseases
ACE p.Glu767Lys Conflicting Single submitter
renal tubular dysgenesis
ACE p.Glu85Lys Uncertain significance Single submitter
ACE p.Glu947Lys Uncertain significance Single submitter
renal tubular dysgenesis of genetic origin
ACE p.Gly501Arg Uncertain significance Single submitter
renal tubular dysgenesis
ACE p.Gly590Ser Likely benign Single submitter
ACE p.His555Tyr Uncertain significance Single submitter
Inborn genetic diseases
ACE p.His987Tyr Uncertain significance Single submitter
Inborn genetic diseases
ACE p.Ile395Met Uncertain significance Single submitter
ACE p.Leu1100Phe Uncertain significance Single submitter
renal tubular dysgenesis of genetic origin
ACE p.Leu16Pro Uncertain significance Single submitter
renal tubular dysgenesis of genetic origin
ACE p.Leu273Phe Conflicting Single submitter
microvascular complications of diabetes, susceptibility to, 3
ACE p.Leu30Phe Uncertain significance Single submitter
renal tubular dysgenesis of genetic origin
ACE p.Leu440Gln Uncertain significance Single submitter
renal tubular dysgenesis of genetic origin
ACE p.Leu770Val Uncertain significance Single submitter
renal tubular dysgenesis of genetic origin
ACE p.Lys136Thr Uncertain significance Single submitter
ACE p.Lys586Glu Uncertain significance Single submitter
renal tubular dysgenesis
ACE p.Phe842Ser Uncertain significance Single submitter
ACE p.Phe996Ser Uncertain significance Single submitter
ACE p.Pro1029Ser Uncertain significance Single submitter
renal tubular dysgenesis of genetic origin
ACE p.Pro1178Leu Uncertain significance Single submitter
renal tubular dysgenesis of genetic origin
ACE p.Pro1180Leu Uncertain significance Single submitter
Inborn genetic diseases
ACE p.Pro199Leu Uncertain significance Single submitter
renal tubular dysgenesis of genetic origin
ACE p.Pro202Leu Conflicting Single submitter
ACE p.Pro36Leu Uncertain significance Single submitter
renal tubular dysgenesis of genetic origin
ACE p.Pro405Arg Uncertain significance Single submitter
renal tubular dysgenesis of genetic origin
ACE p.Pro580Thr Uncertain significance Single submitter
renal tubular dysgenesis
ACE p.Ser486Phe Uncertain significance Single submitter
renal tubular dysgenesis of genetic origin
ACE p.Ser68Arg Uncertain significance Single submitter
ACE p.Ser903Leu Uncertain significance Single submitter
renal tubular dysgenesis of genetic origin
ACE p.Thr1227Met Uncertain significance Single submitter
renal tubular dysgenesis of genetic origin
ACE p.Thr331Ala Uncertain significance Single submitter
ACE p.Thr679Ile Uncertain significance Single submitter
renal tubular dysgenesis of genetic origin
ACE p.Thr776Met Uncertain significance Single submitter
Inborn genetic diseases
ACE p.Thr831Lys Uncertain significance Single submitter
ACE p.Trp109Arg Uncertain significance Single submitter
ACE p.Trp628Arg Uncertain significance Single submitter
renal tubular dysgenesis of genetic origin
ACE p.Tyr818Cys Uncertain significance Single submitter
renal tubular dysgenesis of genetic origin
ACE p.Tyr892Cys Uncertain significance Single submitter
ACE p.Val1076Leu Conflicting Single submitter
microvascular complications of diabetes, susceptibility to, 3
ACE p.Val1104Met Uncertain significance Single submitter
renal tubular dysgenesis of genetic origin

All ACE variants

Pathogenic 25

p.Arg149fs Multiple submitters microvascular complications of diabetes, susceptibility to, 3
p.Arg265Ter Multiple submitters ACE-related disorder
p.Arg508Ter Multiple submitters renal tubular dysgenesis of genetic origin
p.Arg791Ter Multiple submitters microvascular complications of diabetes, susceptibility to, 3
c.3281+1del Single submitter
c.3503+1G>A Single submitter ACE-related disorder
p.Ala279fs Single submitter
p.Gln1137Ter Single submitter renal tubular dysgenesis of genetic origin
p.Gln1144Ter Single submitter
p.Gln1184Ter Single submitter
p.Gln138Ter Single submitter
p.Gln500fs Single submitter
p.Gln582Ter Single submitter renal tubular dysgenesis
p.Ile462fs Single submitter renal tubular dysgenesis
p.Ile717fs Single submitter
p.Leu454fs Single submitter renal tubular dysgenesis
p.Phe300fs Single submitter renal tubular dysgenesis
p.Pro431fs Single submitter
p.Ser486fs Single submitter renal tubular dysgenesis
p.Trp1074Ter Single submitter
p.Trp1091Ter Single submitter
p.Trp69Ter Single submitter renal tubular dysgenesis of genetic origin
p.Tyr892fs Single submitter
p.Leu440fs No assertion criteria renal tubular dysgenesis
p.Trp290Ter No assertion criteria

Pathogenic/Likely pathogenic 8

c.1709+5G>C Multiple submitters renal tubular dysgenesis
p.Arg496Ter Multiple submitters Abnormality of prenatal development or birth
p.Arg8fs Multiple submitters hemorrhage, intracerebral, susceptibility to
p.Gln396Ter Multiple submitters renal tubular dysgenesis of genetic origin
p.Leu13_Leu14del Multiple submitters ACE-related disorder
p.Met1Thr Multiple submitters renal tubular dysgenesis of genetic origin
p.Ser5fs Multiple submitters renal tubular dysgenesis
p.Tyr266Ter Multiple submitters renal tubular dysgenesis of genetic origin

Likely pathogenic 31

c.1342+1G>T Multiple submitters hemorrhage, intracerebral, susceptibility to
c.3503+1G>C Multiple submitters hemorrhage, intracerebral, susceptibility to
c.945+2T>G Multiple submitters renal tubular dysgenesis of genetic origin
p.Arg496Gln Multiple submitters ACE-related disorder
p.Pro504fs Multiple submitters microvascular complications of diabetes, susceptibility to, 3
c.1487+1G>A Single submitter renal tubular dysgenesis of genetic origin
c.1921+328T>C Single submitter renal tubular dysgenesis of genetic origin
c.2306-1G>C Single submitter renal tubular dysgenesis of genetic origin
c.250-1G>A Single submitter renal tubular dysgenesis of genetic origin
c.2642-1G>A Single submitter renal tubular dysgenesis
c.512-2A>G Single submitter renal tubular dysgenesis of genetic origin
p.537QF[3] Single submitter
p.Arg409fs Single submitter ACE-related disorder
p.Arg862fs Single submitter renal tubular dysgenesis of genetic origin
p.Asp491fs Single submitter ACE-related disorder
p.Asp823fs Single submitter renal tubular dysgenesis of genetic origin
p.Gln1088Ter Single submitter renal tubular dysgenesis of genetic origin
p.Gln116Ter Single submitter ACE-related disorder
p.Gln376Ter Single submitter renal tubular dysgenesis of genetic origin
p.Gln63Ter Single submitter ACE-related disorder
p.Gln688Ter Single submitter renal tubular dysgenesis of genetic origin
p.Leu18fs Single submitter renal tubular dysgenesis of genetic origin
p.Leu21_Leu22del Single submitter
p.Leu573fs Single submitter ACE-related disorder
p.Lys722fs Single submitter renal tubular dysgenesis of genetic origin
p.Met1Ile Single submitter renal tubular dysgenesis of genetic origin
p.Met1Lys Single submitter renal tubular dysgenesis of genetic origin
p.Phe479fs Single submitter renal tubular dysgenesis of genetic origin
p.Ser1131fs Single submitter renal tubular dysgenesis of genetic origin
p.Val325fs Single submitter renal tubular dysgenesis of genetic origin
p.Gly1099Asp No assertion criteria renal tubular dysgenesis

Conflicting classifications of pathogenicity 60

c.2217+11C>T Single submitter renal tubular dysgenesis
c.250-8C>T Single submitter renal tubular dysgenesis
c.2739+4C>T Single submitter
c.2912+10G>C Single submitter renal tubular dysgenesis of genetic origin
c.3692-14T>A Single submitter renal tubular dysgenesis of genetic origin
c.417+13C>T Single submitter renal tubular dysgenesis
p.Ala183= Single submitter renal tubular dysgenesis
p.Ala80= Single submitter renal tubular dysgenesis
p.Arg1286His Single submitter microvascular complications of diabetes, susceptibility to, 3 ⚠
p.Arg1290Trp Single submitter Inborn genetic diseases ⚠
p.Arg137= Single submitter renal tubular dysgenesis
p.Arg228Cys Single submitter renal tubular dysgenesis ⚠
p.Arg259His Single submitter renal tubular dysgenesis of genetic origin ⚠
p.Arg409= Single submitter microvascular complications of diabetes, susceptibility to, 3
p.Arg410Gln Single submitter renal tubular dysgenesis ⚠
p.Arg487Cys Single submitter renal tubular dysgenesis of genetic origin ⚠
p.Arg857His Single submitter hemorrhage, intracerebral, susceptibility to ⚠
p.Arg918= Single submitter renal tubular dysgenesis
p.Arg953Gln Single submitter renal tubular dysgenesis ⚠
p.Asp1020= Single submitter renal tubular dysgenesis
p.Asp169= Single submitter renal tubular dysgenesis
p.Asp218= Single submitter
p.Asp353Asn Single submitter ⚠
p.Asp820= Single submitter renal tubular dysgenesis
p.Gln288Arg Single submitter renal tubular dysgenesis of genetic origin ⚠
p.Gln47Arg Single submitter renal tubular dysgenesis ⚠
p.Glu1046Lys Single submitter renal tubular dysgenesis of genetic origin ⚠
p.Glu767Lys Single submitter renal tubular dysgenesis ⚠
p.Gly1174fs Single submitter hemorrhage, intracerebral, susceptibility to
p.Gly1241Ser Single submitter renal tubular dysgenesis ⚠
p.Gly267Arg Single submitter renal tubular dysgenesis of genetic origin ⚠
p.Ile1018Thr Single submitter renal tubular dysgenesis
p.Leu117= Single submitter renal tubular dysgenesis
p.Leu1219Pro Single submitter microvascular complications of diabetes, susceptibility to, 3 ⚠
p.Leu1269= Single submitter renal tubular dysgenesis
p.Leu16_Pro23del Single submitter microvascular complications of diabetes, susceptibility to, 3
p.Leu20fs Single submitter ACE-related disorder
p.Leu273Phe Single submitter microvascular complications of diabetes, susceptibility to, 3 ⚠
p.Met828Thr Single submitter renal tubular dysgenesis ⚠
p.Pro15= Single submitter renal tubular dysgenesis
p.Pro159= Single submitter renal tubular dysgenesis of genetic origin
p.Pro202Leu Single submitter ⚠
p.Pro505Ala Single submitter renal tubular dysgenesis ⚠
p.Pro624= Single submitter renal tubular dysgenesis
p.Ser1044= Single submitter renal tubular dysgenesis
p.Ser310Gly Single submitter microvascular complications of diabetes, susceptibility to, 3 ⚠
p.Ser362= Single submitter microvascular complications of diabetes, susceptibility to, 3
p.Ser660Cys Single submitter renal tubular dysgenesis of genetic origin ⚠
p.Ser683Arg Single submitter hemorrhage, intracerebral, susceptibility to ⚠
p.Ser752= Single submitter renal tubular dysgenesis
p.Ser903= Single submitter renal tubular dysgenesis
p.Ser960= Single submitter renal tubular dysgenesis of genetic origin
p.Thr1187= Single submitter renal tubular dysgenesis
p.Thr1210= Single submitter microvascular complications of diabetes, susceptibility to, 3
p.Thr320= Single submitter renal tubular dysgenesis
p.Tyr805= Single submitter renal tubular dysgenesis
p.Tyr829= Single submitter renal tubular dysgenesis
p.Tyr864= Single submitter renal tubular dysgenesis
p.Val1069Ile Single submitter Inborn genetic diseases ⚠
p.Val1076Leu Single submitter microvascular complications of diabetes, susceptibility to, 3 ⚠

Benign 63

c.1119-202A>G Multiple submitters
c.1488-58T>C Multiple submitters
c.1586+19C>T Multiple submitters
c.1586+67A>T Multiple submitters
c.1586+98C>T Multiple submitters
c.1922-288C>T Multiple submitters renal tubular dysgenesis
c.1922-44G>A Multiple submitters
c.2058+221C>T Multiple submitters
c.2058+41T>C Multiple submitters
c.2059-257C>A Multiple submitters
c.2218-66T>C Multiple submitters
c.2305+88T>C Multiple submitters
c.2306-11A>C Multiple submitters renal tubular dysgenesis
c.2306-19G>C Multiple submitters renal tubular dysgenesis
c.249+209G>C Multiple submitters
c.3281+25C>T Multiple submitters
c.3282-103C>T Multiple submitters
c.3380+5C>T Multiple submitters renal tubular dysgenesis
c.3380+76G>A Multiple submitters
c.3691+5C>T Multiple submitters renal tubular dysgenesis
c.3692-6G>A Multiple submitters renal tubular dysgenesis
c.417+207G>A Multiple submitters
c.417+8G>A Multiple submitters renal tubular dysgenesis
c.418-70C>G Multiple submitters
c.511+66A>G Multiple submitters renal tubular dysgenesis
c.655+13C>T Multiple submitters renal tubular dysgenesis
c.656-9C>T Multiple submitters renal tubular dysgenesis of genetic origin
c.847+12G>A Multiple submitters renal tubular dysgenesis
c.847+50C>T Multiple submitters
p.15PL[3] Multiple submitters
p.Ala154Thr Multiple submitters renal tubular dysgenesis ⚠
p.Ala261Ser Multiple submitters renal tubular dysgenesis
p.Ala731= Multiple submitters renal tubular dysgenesis
p.Arg1286Ser Multiple submitters renal tubular dysgenesis
p.Arg1290Gln Multiple submitters
p.Arg260= Multiple submitters renal tubular dysgenesis
p.Asn194= Multiple submitters renal tubular dysgenesis
p.Glu1302= Multiple submitters renal tubular dysgenesis
p.Gly2Val Multiple submitters renal tubular dysgenesis
p.Leu850= Multiple submitters renal tubular dysgenesis
p.Leu931= Multiple submitters renal tubular dysgenesis
p.Pro405= Multiple submitters renal tubular dysgenesis
p.Thr776= Multiple submitters renal tubular dysgenesis
p.Thr929= Multiple submitters renal tubular dysgenesis
p.Val325= Multiple submitters renal tubular dysgenesis
c.1343-17A>G Single submitter
c.2217+14A>G Single submitter
c.2305+271C>G Single submitter
c.2306-267del Single submitter
c.2306-268_2306-267del Single submitter
c.2306-282A>G Single submitter
c.2306-283A>G Single submitter
c.2641+231G>A Single submitter
c.3281+19G>A Single submitter
c.3691+21del Single submitter
c.848-223A>G Single submitter
c.*505C>G Single submitter renal tubular dysgenesis
c.*586C>A Single submitter renal tubular dysgenesis
c.*709G>A Single submitter renal tubular dysgenesis
c.*894G>A Single submitter renal tubular dysgenesis
c.*910A>G Single submitter renal tubular dysgenesis
c.1922-104dup No assertion criteria
c.2306-117_2306-116insAF118569.1:g.14094_14382 No assertion criteria ACE INSERTION/DELETION POLYMORPHISM

Benign/Likely benign 32

c.1119-8C>T Multiple submitters renal tubular dysgenesis
c.3381-17G>T Multiple submitters
c.3691+10C>T Multiple submitters renal tubular dysgenesis of genetic origin
c.511+23_511+36del Multiple submitters
c.945+16A>G Multiple submitters hemorrhage, intracerebral, susceptibility to
p.Ala1163= Multiple submitters renal tubular dysgenesis of genetic origin
p.Ala319Ser Multiple submitters renal tubular dysgenesis
p.Ala794= Multiple submitters renal tubular dysgenesis of genetic origin
p.Arg1279Gln Multiple submitters renal tubular dysgenesis
p.Arg324Trp Multiple submitters renal tubular dysgenesis ⚠
p.Arg442His Multiple submitters
p.Arg561Trp Multiple submitters hemorrhage, intracerebral, susceptibility to ⚠
p.Arg729= Multiple submitters renal tubular dysgenesis
p.Arg840= Multiple submitters renal tubular dysgenesis of genetic origin
p.Asn160Ser Multiple submitters renal tubular dysgenesis ⚠
p.Asp592Gly Multiple submitters renal tubular dysgenesis
p.Gln59= Multiple submitters hemorrhage, intracerebral, susceptibility to
p.Gly354Arg Multiple submitters renal tubular dysgenesis ⚠
p.Ile1267= Multiple submitters hemorrhage, intracerebral, susceptibility to
p.Ile993= Multiple submitters microvascular complications of diabetes, susceptibility to, 3
p.Leu158= Multiple submitters
p.Leu200= Multiple submitters
p.Phe1129= Multiple submitters hemorrhage, intracerebral, susceptibility to
p.Pro1102Thr Multiple submitters
p.Pro1228= Multiple submitters
p.Pro340= Multiple submitters microvascular complications of diabetes, susceptibility to, 3
p.Ser1121= Multiple submitters renal tubular dysgenesis of genetic origin
p.Ser346= Multiple submitters renal tubular dysgenesis
p.Thr1187Met Multiple submitters renal tubular dysgenesis
p.Thr916Met Multiple submitters renal tubular dysgenesis of genetic origin ⚠
p.Tyr244Cys Multiple submitters renal tubular dysgenesis ⚠
p.Val984= Multiple submitters renal tubular dysgenesis

Likely benign 202

c.1709+17C>T Multiple submitters
c.249+15C>G Multiple submitters hemorrhage, intracerebral, susceptibility to
c.249+16C>G Multiple submitters hemorrhage, intracerebral, susceptibility to
c.250-18C>T Multiple submitters
c.3381-4C>T Multiple submitters renal tubular dysgenesis of genetic origin
p.Ala183Thr Multiple submitters
p.Ala694= Multiple submitters
p.Ala77= Multiple submitters
p.His1015Gln Multiple submitters
p.His1118= Multiple submitters
p.Ile798Val Multiple submitters renal tubular dysgenesis
p.Leu439= Multiple submitters renal tubular dysgenesis of genetic origin
p.Phe366= Multiple submitters
p.Pro1180= Multiple submitters
p.Ser152= Multiple submitters
p.Thr1107= Multiple submitters microvascular complications of diabetes, susceptibility to, 3
p.Thr381Met Multiple submitters renal tubular dysgenesis of genetic origin ⚠
c.1118+18G>A Single submitter
c.1119-11C>G Single submitter
c.1119-18G>A Single submitter
c.1487+14T>C Single submitter
c.1586+10_1586+11insGGGGGCCCCCCCCCCCCCCC Single submitter
c.1586+10_1586+11insGGGGGG Single submitter
c.1586+10_1586+11insGGGGGGGC Single submitter
c.1586+10_1586+11insGGGGGGGG Single submitter
c.1586+10_1586+11insGGGGGGGGCC Single submitter
c.1586+10_1586+11insGGGGGGGGG Single submitter
c.1586+10_1586+11insGGGGGGGGGCCC Single submitter
c.1586+10_1586+11insGGGGGGGGGG Single submitter
c.1586+10_1586+11insGGGGGGGGGGCC Single submitter
c.1586+10_1586+11insGGGGGGGGGGG Single submitter
c.1586+10_1586+11insGGGGGGGGGGGCC Single submitter
c.1586+10_1586+11insGGGGGGGGGGGG Single submitter
c.1586+10_1586+11insGGGGGGGGGGGGCCC Single submitter
c.1586+10_1586+11insGGGGGGGGGGGGGGG Single submitter
c.1586+10_1586+11insGGGGGGGGGGGGGGGG Single submitter
c.1586+10_1586+11insGGGGGGGGGGGGGGGGGG Single submitter
c.1586+11_1586+14dup Single submitter
c.1586+9G>A Single submitter
c.1587-13C>G Single submitter
c.1709+18G>A Single submitter
c.1710-16C>G Single submitter
c.1921+9C>G Single submitter
c.1922-14A>G Single submitter
c.2058+7G>A Single submitter
c.2059-19C>T Single submitter
c.2217+19A>G Single submitter
c.2218-14C>T Single submitter
c.2305+16C>T Single submitter
c.2305+9T>A Single submitter
c.2449+9C>T Single submitter
c.249+14C>T Single submitter
c.249+19G>A Single submitter
c.250-19C>T Single submitter
c.2641+15C>T Single submitter
c.2641+18G>T Single submitter
c.2642-17C>G Single submitter
c.2642-8G>A Single submitter
c.2739+19G>T Single submitter
c.2740-14C>A Single submitter
c.2740-16C>T Single submitter
c.2740-8G>A Single submitter
c.2913-17C>A Single submitter
c.2913-8A>C Single submitter
c.3136+13C>T Single submitter
c.3137-13C>T Single submitter
c.3281+18C>T Single submitter
c.3281+20G>A Single submitter
c.3282-17A>G Single submitter
c.3282-20C>A Single submitter
c.3282-6C>T Single submitter
c.3380+17G>C Single submitter
c.3380+7G>A Single submitter
c.3381-12G>A Single submitter
c.3692-7C>T Single submitter
c.417+17G>A Single submitter
c.418-10G>T Single submitter
c.511+15G>C Single submitter
c.512-15C>T Single submitter
c.512-19C>G Single submitter
c.655+9G>T Single submitter
c.656-12C>T Single submitter
c.656-13C>T Single submitter
c.847+9dup Single submitter
c.946-16C>G Single submitter
c.*438G>T Single submitter renal tubular dysgenesis
p.Ala1056= Single submitter
p.Ala1115= Single submitter
p.Ala163= Single submitter
p.Ala214= Single submitter
p.Ala425= Single submitter
p.Ala44= Single submitter
p.Ala463= Single submitter
p.Ala543= Single submitter
p.Ala548= Single submitter
p.Ala668= Single submitter
p.Ala70Val Single submitter
p.Ala866= Single submitter
p.Ala885= Single submitter
p.Ala959= Single submitter
p.Arg1232= Single submitter
p.Arg269Lys Single submitter Inborn genetic diseases
p.Arg579= Single submitter
p.Arg814= Single submitter
p.Asn1085= Single submitter
p.Asn1212= Single submitter
p.Asn212= Single submitter
p.Asn318= Single submitter
p.Asn690= Single submitter
p.Asn810= Single submitter
p.Asp1045His Single submitter Inborn genetic diseases
p.Asp222= Single submitter
p.Asp951= Single submitter
p.Cys545= Single submitter
p.Gln1108= Single submitter
p.Gln63= Single submitter
p.Gln692= Single submitter
p.Glu106= Single submitter
p.Glu356= Single submitter
p.Glu669Lys Single submitter
p.Gly1247= Single submitter
p.Gly438= Single submitter
p.Gly501= Single submitter
p.Gly590Ser Single submitter ⚠
p.Gly881= Single submitter
p.His1293= Single submitter
p.His360= Single submitter
p.His433= Single submitter
p.His71Tyr Single submitter Inborn genetic diseases
p.His853= Single submitter
p.His958= Single submitter
p.His987= Single submitter
p.Ile1060= Single submitter
p.Ile437= Single submitter
p.Ile891= Single submitter
p.Leu1038= Single submitter
p.Leu1057= Single submitter
p.Leu1068= Single submitter
p.Leu1219= Single submitter
p.Leu22= Single submitter
p.Leu243= Single submitter
p.Leu273= Single submitter
p.Leu28= Single submitter
p.Leu61= Single submitter
p.Leu686= Single submitter
p.Leu732= Single submitter
p.Leu848= Single submitter
p.Lys102= Single submitter
p.Lys564= Single submitter
p.Phe207= Single submitter
p.Phe490= Single submitter
p.Phe898= Single submitter
p.Pro10= Single submitter
p.Pro1102= Single submitter
p.Pro1124= Single submitter
p.Pro1178= Single submitter
p.Pro1203= Single submitter
p.Pro1222= Single submitter
p.Pro1236= Single submitter
p.Pro199= Single submitter
p.Pro26= Single submitter
p.Pro278= Single submitter
p.Pro414= Single submitter
p.Pro598= Single submitter
p.Pro631= Single submitter
p.Pro637= Single submitter
p.Pro803= Single submitter
p.Pro935= Single submitter
p.Ser1122= Single submitter
p.Ser1195= Single submitter
p.Ser1299= Single submitter
p.Ser167= Single submitter
p.Ser179= Single submitter
p.Ser5= Single submitter
p.Ser578= Single submitter
p.Ser824= Single submitter
p.Ser944= Single submitter
p.Thr1169= Single submitter
p.Thr1210Met Single submitter
p.Thr331= Single submitter
p.Thr497= Single submitter
p.Thr750= Single submitter
p.Thr771= Single submitter
p.Thr977= Single submitter
p.Tyr182= Single submitter
p.Tyr231= Single submitter
p.Tyr251= Single submitter
p.Tyr294= Single submitter
p.Tyr469= Single submitter
p.Tyr700= Single submitter
p.Val589= Single submitter
p.Val65= Single submitter
p.Val709= Single submitter
c.1922-198G>A No assertion criteria ACE-related disorder
c.3691+6del No assertion criteria ACE-related disorder
c.3691+9A>C No assertion criteria ACE-related disorder
c.3691+9del No assertion criteria ACE-related disorder
p.Ala196= No assertion criteria ACE-related disorder
p.Gln846= No assertion criteria ACE-related disorder
p.Leu19= No assertion criteria ACE-related disorder
p.Thr153= No assertion criteria ACE-related disorder
p.Thr916= No assertion criteria ACE-related disorder

Uncertain significance 421

Showing the top 300 by review status; the full set is in the sitemap.

c.2739+5G>A Multiple submitters renal tubular dysgenesis
p.15PL[1] Multiple submitters hemorrhage, intracerebral, susceptibility to
p.Ala195Thr Multiple submitters renal tubular dysgenesis of genetic origin ⚠
p.Ala225Ser Multiple submitters Inborn genetic diseases ⚠
p.Ala361Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala363Val Multiple submitters microvascular complications of diabetes, susceptibility to, 3 ⚠
p.Ala515Ser Multiple submitters microvascular complications of diabetes, susceptibility to, 3 ⚠
p.Ala730Glu Multiple submitters microvascular complications of diabetes, susceptibility to, 3 ⚠
p.Ala959Thr Multiple submitters microvascular complications of diabetes, susceptibility to, 3 ⚠
p.Ala961Pro Multiple submitters renal tubular dysgenesis of genetic origin ⚠
p.Arg1166His Multiple submitters hemorrhage, intracerebral, susceptibility to ⚠
p.Arg1209His Multiple submitters hemorrhage, intracerebral, susceptibility to ⚠
p.Arg1232His Multiple submitters hemorrhage, intracerebral, susceptibility to ⚠
p.Arg1256Cys Multiple submitters microvascular complications of diabetes, susceptibility to, 3 ⚠
p.Arg1284Cys Multiple submitters renal tubular dysgenesis of genetic origin ⚠
p.Arg149Ser Multiple submitters microvascular complications of diabetes, susceptibility to, 3 ⚠
p.Arg180Gln Multiple submitters renal tubular dysgenesis of genetic origin ⚠
p.Arg324Gln Multiple submitters microvascular complications of diabetes, susceptibility to, 3 ⚠
p.Arg355Gln Multiple submitters renal tubular dysgenesis of genetic origin ⚠
p.Arg379Trp Multiple submitters microvascular complications of diabetes, susceptibility to, 3 ⚠
p.Arg482Cys Multiple submitters renal tubular dysgenesis of genetic origin ⚠
p.Arg482His Multiple submitters microvascular complications of diabetes, susceptibility to, 3 ⚠
p.Arg482Pro Multiple submitters renal tubular dysgenesis of genetic origin ⚠
p.Arg487His Multiple submitters hemorrhage, intracerebral, susceptibility to ⚠
p.Arg508Gln Multiple submitters renal tubular dysgenesis ⚠
p.Arg719Trp Multiple submitters microvascular complications of diabetes, susceptibility to, 3
p.Arg814Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg862His Multiple submitters hemorrhage, intracerebral, susceptibility to ⚠
p.Arg8Trp Multiple submitters microvascular complications of diabetes, susceptibility to, 3 ⚠
p.Arg953Trp Multiple submitters microvascular complications of diabetes, susceptibility to, 3
p.Asn1036Lys Multiple submitters microvascular complications of diabetes, susceptibility to, 3 ⚠
p.Asn671Ser Multiple submitters Inborn genetic diseases ⚠
p.Asp441Asn Multiple submitters microvascular complications of diabetes, susceptibility to, 3 ⚠
p.Asp72Tyr Multiple submitters microvascular complications of diabetes, susceptibility to, 3 ⚠
p.Asp746Asn Multiple submitters Inborn genetic diseases ⚠
p.Cys763Tyr Multiple submitters microvascular complications of diabetes, susceptibility to, 3 ⚠
p.Gln25Leu Multiple submitters Inborn genetic diseases ⚠
p.Glu341Gln Multiple submitters renal tubular dysgenesis of genetic origin ⚠
p.Glu341Lys Multiple submitters hemorrhage, intracerebral, susceptibility to ⚠
p.Glu638Lys Multiple submitters Inborn genetic diseases ⚠
p.Gly1013Ala Multiple submitters microvascular complications of diabetes, susceptibility to, 3
p.Gly1164Arg Multiple submitters renal tubular dysgenesis of genetic origin ⚠
p.Gly128Asp Multiple submitters renal tubular dysgenesis ⚠
p.Gly197Asp Multiple submitters microvascular complications of diabetes, susceptibility to, 3 ⚠
p.Gly2Glu Multiple submitters microvascular complications of diabetes, susceptibility to, 3 ⚠
p.Gly415Ser Multiple submitters renal tubular dysgenesis of genetic origin
p.Gly552Asp Multiple submitters microvascular complications of diabetes, susceptibility to, 3
p.Gly618Ser Multiple submitters microvascular complications of diabetes, susceptibility to, 3 ⚠
p.Gly639Ser Multiple submitters microvascular complications of diabetes, susceptibility to, 3 ⚠
p.Gly865Arg Multiple submitters hemorrhage, intracerebral, susceptibility to ⚠
p.His1293Tyr Multiple submitters microvascular complications of diabetes, susceptibility to, 3 ⚠
p.Ile420Thr Multiple submitters renal tubular dysgenesis of genetic origin ⚠
p.Leu1024Phe Multiple submitters ACE-related disorder ⚠
p.Leu14_Leu22del Multiple submitters Inborn genetic diseases
p.Leu168Pro Multiple submitters hemorrhage, intracerebral, susceptibility to ⚠
p.Lys1030Asn Multiple submitters renal tubular dysgenesis of genetic origin ⚠
p.Lys155Asn Multiple submitters renal tubular dysgenesis of genetic origin ⚠
p.Lys201Thr Multiple submitters renal tubular dysgenesis of genetic origin ⚠
p.Lys571Asn Multiple submitters ACE-related disorder ⚠
p.Lys601Arg Multiple submitters Inborn genetic diseases ⚠
p.Lys922Glu Multiple submitters hemorrhage, intracerebral, susceptibility to ⚠
p.Met1055Leu Multiple submitters microvascular complications of diabetes, susceptibility to, 3 ⚠
p.Phe1201Leu Multiple submitters renal tubular dysgenesis of genetic origin ⚠
p.Pro115Arg Multiple submitters microvascular complications of diabetes, susceptibility to, 3 ⚠
p.Pro1180Val Multiple submitters renal tubular dysgenesis of genetic origin
p.Pro17Arg Multiple submitters hemorrhage, intracerebral, susceptibility to ⚠
p.Pro23Ala Multiple submitters microvascular complications of diabetes, susceptibility to, 3 ⚠
p.Pro351Leu Multiple submitters microvascular complications of diabetes, susceptibility to, 3
p.Pro485Ala Multiple submitters hemorrhage, intracerebral, susceptibility to ⚠
p.Pro485Arg Multiple submitters renal tubular dysgenesis ⚠
p.Pro504Ser Multiple submitters microvascular complications of diabetes, susceptibility to, 3 ⚠
p.Pro803Leu Multiple submitters microvascular complications of diabetes, susceptibility to, 3 ⚠
p.Ser1195Leu Multiple submitters Inborn genetic diseases ⚠
p.Ser362Leu Multiple submitters microvascular complications of diabetes, susceptibility to, 3 ⚠
p.Thr447Ala Multiple submitters Inborn genetic diseases ⚠
p.Thr447Met Multiple submitters microvascular complications of diabetes, susceptibility to, 3 ⚠
p.Thr563Ile Multiple submitters Inborn genetic diseases ⚠
p.Thr697Asn Multiple submitters renal tubular dysgenesis of genetic origin ⚠
p.Tyr527Cys Multiple submitters microvascular complications of diabetes, susceptibility to, 3 ⚠
p.Val1021Met Multiple submitters microvascular complications of diabetes, susceptibility to, 3
p.Val1257Met Multiple submitters microvascular complications of diabetes, susceptibility to, 3 ⚠
p.Val406Ile Multiple submitters Inborn genetic diseases ⚠
p.Val423Met Multiple submitters microvascular complications of diabetes, susceptibility to, 3 ⚠
p.Val773Met Multiple submitters microvascular complications of diabetes, susceptibility to, 3 ⚠
p.Val806Met Multiple submitters renal tubular dysgenesis of genetic origin
p.Val856Met Multiple submitters renal tubular dysgenesis of genetic origin ⚠
p.Val978Met Multiple submitters ACE-related disorder ⚠
c.1119-19C>A Single submitter renal tubular dysgenesis of genetic origin
c.1487+9_1487+11delinsGAA Single submitter
c.1586+4T>G Single submitter renal tubular dysgenesis of genetic origin
c.1921+11G>A Single submitter renal tubular dysgenesis of genetic origin
c.1921+4A>G Single submitter renal tubular dysgenesis of genetic origin
c.1922-199C>T Single submitter ACE-related disorder
c.1922-236_1922-219del Single submitter renal tubular dysgenesis of genetic origin
c.1922-308G>A Single submitter renal tubular dysgenesis of genetic origin
c.1922-3C>T Single submitter
c.1922-5C>A Single submitter renal tubular dysgenesis of genetic origin
c.2059-26_2059-4del Single submitter ACE-related disorder
c.2450-16T>A Single submitter renal tubular dysgenesis of genetic origin
c.2450-1G>C Single submitter renal tubular dysgenesis of genetic origin
c.249+4G>A Single submitter
c.2642-11C>G Single submitter renal tubular dysgenesis of genetic origin
c.2642-5T>C Single submitter renal tubular dysgenesis
c.2642-7C>T Single submitter renal tubular dysgenesis
c.2913-8A>G Single submitter renal tubular dysgenesis
c.3282-5G>A Single submitter renal tubular dysgenesis
c.3380+2dup Single submitter renal tubular dysgenesis of genetic origin
c.417+4G>A Single submitter
c.417+5G>A Single submitter renal dysplasia, cystic, susceptibility to
c.511+4C>T Single submitter renal tubular dysgenesis of genetic origin
c.945+6C>T Single submitter renal tubular dysgenesis of genetic origin
c.-3G>A Single submitter renal tubular dysgenesis of genetic origin
c.*158C>T Single submitter renal tubular dysgenesis
c.*185G>A Single submitter renal tubular dysgenesis
c.*319A>G Single submitter renal tubular dysgenesis
c.*334G>A Single submitter renal tubular dysgenesis
c.*410G>A Single submitter renal tubular dysgenesis
c.*444C>T Single submitter renal tubular dysgenesis
c.*557G>T Single submitter renal tubular dysgenesis
c.*564C>T Single submitter renal tubular dysgenesis
c.*577T>A Single submitter renal tubular dysgenesis
c.*627G>A Single submitter renal tubular dysgenesis
c.*689T>C Single submitter renal tubular dysgenesis
c.*744A>G Single submitter renal tubular dysgenesis
c.*755T>G Single submitter renal tubular dysgenesis
c.*788G>A Single submitter renal tubular dysgenesis
c.*798C>T Single submitter renal tubular dysgenesis
c.*961A>G Single submitter renal tubular dysgenesis
p.Ala1017Thr Single submitter renal tubular dysgenesis of genetic origin ⚠
p.Ala101Thr Single submitter renal tubular dysgenesis of genetic origin ⚠
p.Ala1194Pro Single submitter
p.Ala1194Thr Single submitter ⚠
p.Ala1231Thr Single submitter ⚠
p.Ala1252Val Single submitter renal tubular dysgenesis of genetic origin ⚠
p.Ala154Val Single submitter renal tubular dysgenesis of genetic origin ⚠
p.Ala214Ser Single submitter renal tubular dysgenesis of genetic origin ⚠
p.Ala214Thr Single submitter
p.Ala27Val Single submitter ⚠
p.Ala412Thr Single submitter Inborn genetic diseases
p.Ala425Val Single submitter
p.Ala543Thr Single submitter renal tubular dysgenesis of genetic origin ⚠
p.Ala565Thr Single submitter
p.Ala596Phe Single submitter renal tubular dysgenesis of genetic origin
p.Ala704Gly Single submitter renal tubular dysgenesis of genetic origin ⚠
p.Ala731Val Single submitter Inborn genetic diseases ⚠
p.Ala866Ser Single submitter ⚠
p.Ala885Val Single submitter Inborn genetic diseases ⚠
p.Ala959Asp Single submitter renal tubular dysgenesis of genetic origin ⚠
p.Arg1166Gly Single submitter renal tubular dysgenesis of genetic origin ⚠
p.Arg118Leu Single submitter renal tubular dysgenesis ⚠
p.Arg1209Cys Single submitter renal tubular dysgenesis of genetic origin ⚠
p.Arg1232Leu Single submitter ⚠
p.Arg1242Cys Single submitter renal tubular dysgenesis of genetic origin ⚠
p.Arg1242His Single submitter ⚠
p.Arg1256His Single submitter ⚠
p.Arg125Pro Single submitter renal tubular dysgenesis of genetic origin ⚠
p.Arg1279Pro Single submitter renal tubular dysgenesis of genetic origin ⚠
p.Arg1286Cys Single submitter renal tubular dysgenesis of genetic origin ⚠
p.Arg137Gln Single submitter renal tubular dysgenesis of genetic origin ⚠
p.Arg137Trp Single submitter renal tubular dysgenesis of genetic origin ⚠
p.Arg264His Single submitter renal tubular dysgenesis of genetic origin ⚠
p.Arg369Gly Single submitter renal tubular dysgenesis of genetic origin ⚠
p.Arg373Ser Single submitter renal tubular dysgenesis of genetic origin ⚠
p.Arg379Gln Single submitter renal tubular dysgenesis of genetic origin ⚠
p.Arg409Cys Single submitter renal tubular dysgenesis of genetic origin ⚠
p.Arg409Leu Single submitter Inborn genetic diseases ⚠
p.Arg410Trp Single submitter ⚠
p.Arg442Cys Single submitter renal tubular dysgenesis of genetic origin ⚠
p.Arg475Cys Single submitter Inborn genetic diseases ⚠
p.Arg475Ser Single submitter renal tubular dysgenesis of genetic origin ⚠
p.Arg482Leu Single submitter renal tubular dysgenesis of genetic origin ⚠
p.Arg529Ser Single submitter renal tubular dysgenesis of genetic origin ⚠
p.Arg561= Single submitter renal tubular dysgenesis of genetic origin
p.Arg658Gln Single submitter Inborn genetic diseases ⚠
p.Arg705Lys Single submitter renal tubular dysgenesis of genetic origin ⚠
p.Arg719Gln Single submitter ⚠
p.Arg729Gln Single submitter ⚠
p.Arg729Trp Single submitter renal tubular dysgenesis of genetic origin ⚠
p.Arg7Cys Single submitter renal tubular dysgenesis of genetic origin ⚠
p.Arg7Leu Single submitter Inborn genetic diseases ⚠
p.Arg81Gly Single submitter ⚠
p.Arg840Gln Single submitter renal tubular dysgenesis of genetic origin ⚠
p.Arg840Trp Single submitter renal tubular dysgenesis of genetic origin ⚠
p.Arg857Leu Single submitter renal tubular dysgenesis of genetic origin ⚠
p.Arg858Trp Single submitter
p.Arg8Leu Single submitter renal tubular dysgenesis of genetic origin ⚠
p.Arg971Gln Single submitter renal tubular dysgenesis of genetic origin ⚠
p.Asn1212Thr Single submitter ⚠
p.Asn305Ser Single submitter ⚠
p.Asn413Lys Single submitter Inborn genetic diseases ⚠
p.Asn614= Single submitter renal tubular dysgenesis
p.Asn617His Single submitter renal tubular dysgenesis of genetic origin ⚠
p.Asn677Ser Single submitter ⚠
p.Asn710Ile Single submitter renal tubular dysgenesis of genetic origin ⚠
p.Asn74Asp Single submitter ACE-related disorder ⚠
p.Asn851Lys Single submitter renal tubular dysgenesis of genetic origin ⚠
p.Asn882Ser Single submitter Inborn genetic diseases ⚠
p.Asn942Lys Single submitter ⚠
p.Asp1020Gly Single submitter renal tubular dysgenesis of genetic origin ⚠
p.Asp1045Asn Single submitter renal tubular dysgenesis ⚠
p.Asp1048Gly Single submitter Inborn genetic diseases ⚠
p.Asp1058Asn Single submitter renal tubular dysgenesis of genetic origin ⚠
p.Asp1070His Single submitter Inborn genetic diseases ⚠
p.Asp1249Ala Single submitter Inborn genetic diseases ⚠
p.Asp238= Single submitter
p.Asp239Tyr Single submitter renal tubular dysgenesis of genetic origin ⚠
p.Asp295His Single submitter renal tubular dysgenesis of genetic origin ⚠
p.Asp302Gly Single submitter Inborn genetic diseases ⚠
p.Asp422Asn Single submitter renal tubular dysgenesis of genetic origin ⚠
p.Asp42Asn Single submitter renal tubular dysgenesis of genetic origin ⚠
p.Asp514Asn Single submitter renal tubular dysgenesis ⚠
p.Asp592Asn Single submitter renal tubular dysgenesis of genetic origin ⚠
p.Asp592Val Single submitter ⚠
p.Asp641Val Single submitter renal tubular dysgenesis of genetic origin ⚠
p.Asp708Tyr Single submitter Inborn genetic diseases ⚠
p.Asp769Gly Single submitter renal tubular dysgenesis of genetic origin ⚠
p.Cys359Trp Single submitter Inborn genetic diseases ⚠
p.Cys557Arg Single submitter ⚠
p.Cys975Tyr Single submitter renal tubular dysgenesis of genetic origin ⚠
p.Gln1135Lys Single submitter renal tubular dysgenesis of genetic origin ⚠
p.Gln139Glu Single submitter Inborn genetic diseases ⚠
p.Gln376Arg Single submitter Inborn genetic diseases ⚠
p.Gln473Lys Single submitter renal tubular dysgenesis of genetic origin ⚠
p.Gln500Arg Single submitter Inborn genetic diseases ⚠
p.Gln63His Single submitter renal tubular dysgenesis of genetic origin ⚠
p.Gln998Arg Single submitter Inborn genetic diseases ⚠
p.Glu1140Lys Single submitter renal tubular dysgenesis of genetic origin ⚠
p.Glu190Gly Single submitter renal tubular dysgenesis of genetic origin ⚠
p.Glu205Lys Single submitter Inborn genetic diseases ⚠
p.Glu349Ala Single submitter renal tubular dysgenesis of genetic origin ⚠
p.Glu356Lys Single submitter renal tubular dysgenesis of genetic origin ⚠
p.Glu510Lys Single submitter renal tubular dysgenesis of genetic origin
p.Glu619= Single submitter renal tubular dysgenesis
p.Glu666Lys Single submitter Inborn genetic diseases ⚠
p.Glu669Gly Single submitter renal tubular dysgenesis of genetic origin ⚠
p.Glu681Asp Single submitter Inborn genetic diseases ⚠
p.Glu748Gly Single submitter renal tubular dysgenesis of genetic origin
p.Glu85Lys Single submitter ⚠
p.Glu92Val Single submitter Inborn genetic diseases ⚠
p.Glu947Lys Single submitter renal tubular dysgenesis of genetic origin ⚠
p.Glu989Gly Single submitter ⚠
p.Gly1013Ser Single submitter renal tubular dysgenesis of genetic origin ⚠
p.Gly1150Cys Single submitter renal tubular dysgenesis of genetic origin ⚠
p.Gly1235fs Single submitter renal tubular dysgenesis of genetic origin
p.Gly1275Ser Single submitter Inborn genetic diseases ⚠
p.Gly1298Cys Single submitter ⚠
p.Gly283Arg Single submitter renal tubular dysgenesis of genetic origin ⚠
p.Gly37Arg Single submitter renal tubular dysgenesis of genetic origin ⚠
p.Gly438Ser Single submitter renal tubular dysgenesis of genetic origin ⚠
p.Gly501Arg Single submitter renal tubular dysgenesis ⚠
p.Gly549= Single submitter renal tubular dysgenesis
p.Gly549fs Single submitter
p.Gly566Arg Single submitter renal tubular dysgenesis of genetic origin ⚠
p.Gly576Ala Single submitter ⚠
p.Gly618= Single submitter renal tubular dysgenesis of genetic origin
p.Gly639Val Single submitter ⚠
p.Gly6Ser Single submitter renal tubular dysgenesis of genetic origin ⚠
p.Gly701= Single submitter renal tubular dysgenesis of genetic origin
p.Gly822= Single submitter renal tubular dysgenesis of genetic origin
p.Gly932Arg Single submitter renal tubular dysgenesis of genetic origin ⚠
p.Gly98Ser Single submitter renal tubular dysgenesis of genetic origin ⚠
p.Gly9Arg Single submitter renal tubular dysgenesis ⚠
p.His1047Arg Single submitter renal tubular dysgenesis of genetic origin ⚠
p.His1139Asp Single submitter Inborn genetic diseases ⚠
p.His1153Tyr Single submitter renal tubular dysgenesis of genetic origin ⚠
p.His193Arg Single submitter renal tubular dysgenesis of genetic origin ⚠
p.His512Tyr Single submitter Inborn genetic diseases ⚠
p.His555Tyr Single submitter Inborn genetic diseases ⚠
p.His71Gln Single submitter ⚠
p.His861Leu Single submitter renal tubular dysgenesis ⚠
p.His861Tyr Single submitter renal tubular dysgenesis of genetic origin ⚠
p.His987Tyr Single submitter Inborn genetic diseases ⚠
p.Ile120Thr Single submitter renal tubular dysgenesis of genetic origin ⚠
p.Ile121Val Single submitter renal tubular dysgenesis of genetic origin ⚠
p.Ile395Met Single submitter ⚠
p.Ile420Asn Single submitter Inborn genetic diseases ⚠
p.Ile451Val Single submitter renal tubular dysgenesis of genetic origin ⚠
p.Ile678Val Single submitter renal tubular dysgenesis of genetic origin ⚠
p.Ile75Val Single submitter renal tubular dysgenesis of genetic origin ⚠
p.Leu1100Phe Single submitter renal tubular dysgenesis of genetic origin ⚠
p.Leu1208Pro Single submitter renal tubular dysgenesis ⚠
p.Leu1248_Asp1249insGlyLeu Single submitter
p.Leu127Arg Single submitter renal tubular dysgenesis of genetic origin ⚠
p.Leu13_Leu16del Single submitter renal tubular dysgenesis of genetic origin
p.Leu13Pro Single submitter renal tubular dysgenesis of genetic origin ⚠
p.Leu14_Pro15insArgGlyProGlyLeuLeuLeu Single submitter renal tubular dysgenesis of genetic origin
p.Leu16Pro Single submitter renal tubular dysgenesis of genetic origin ⚠
p.Leu200Pro Single submitter ⚠
p.Leu22Pro Single submitter renal tubular dysgenesis of genetic origin ⚠
p.Leu254Pro Single submitter renal tubular dysgenesis ⚠
p.Leu30Phe Single submitter renal tubular dysgenesis of genetic origin ⚠
p.Leu333Gln Single submitter renal tubular dysgenesis of genetic origin ⚠
p.Leu434Val Single submitter renal tubular dysgenesis of genetic origin
p.Leu439Val Single submitter Inborn genetic diseases
p.Leu440Gln Single submitter renal tubular dysgenesis of genetic origin ⚠
p.Leu440Val Single submitter renal tubular dysgenesis of genetic origin ⚠
p.Leu569Pro Single submitter ⚠
p.Leu61Gln Single submitter renal tubular dysgenesis of genetic origin ⚠
p.Leu698= Single submitter renal tubular dysgenesis
p.Leu744Val Single submitter Inborn genetic diseases ⚠