LRRC8A — 520 ClinVar variants
All ClinVar germline LRRC8A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 254 flagged for review →
8 Conflicting · 16 Benign · 10 Benign/Likely benign · 203 Likely benign · 283 Uncertain significance
Full LRRC8A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 254
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 8
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
LRRC8A p.Ala529Val
Conflicting
Single submitter
LRRC8A-related disorder
- LRRC8A p.Arg550Trp Conflicting Single submitter
- LRRC8A p.Glu775Lys Conflicting Single submitter
- LRRC8A p.Gly705Ser Conflicting Single submitter
- LRRC8A p.Gly783Ser Conflicting Single submitter
- LRRC8A p.Pro88Leu Conflicting Single submitter
-
LRRC8A p.Ser68Leu
Conflicting
Single submitter
agammaglobulinemia 5, autosomal dominant
- LRRC8A p.Val297Met Conflicting Single submitter
Predictors lean, ClinVar uncertain 180
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 180
- LRRC8A p.Ala497Val Uncertain significance Multiple submitters
- LRRC8A p.Arg148His Uncertain significance Multiple submitters
- LRRC8A p.Arg214Gln Uncertain significance Multiple submitters
-
LRRC8A p.Arg218Gln
Uncertain significance
Multiple submitters
LRRC8A-related disorder
- LRRC8A p.Arg218Trp Uncertain significance Multiple submitters
- LRRC8A p.Arg262Cys Uncertain significance Multiple submitters
- LRRC8A p.Arg496Gln Uncertain significance Multiple submitters
- LRRC8A p.Arg545Cys Uncertain significance Multiple submitters
- LRRC8A p.Arg550Gln Uncertain significance Multiple submitters
- LRRC8A p.Arg600Cys Uncertain significance Multiple submitters
- LRRC8A p.Arg666His Uncertain significance Multiple submitters
-
LRRC8A p.Arg70Gln
Uncertain significance
Multiple submitters
LRRC8A-related disorder
- LRRC8A p.Arg70Trp Uncertain significance Multiple submitters
- LRRC8A p.Arg765Gln Uncertain significance Multiple submitters
- LRRC8A p.Arg801Gln Uncertain significance Multiple submitters
- LRRC8A p.Asn625His Uncertain significance Multiple submitters
- LRRC8A p.Asp294Tyr Uncertain significance Multiple submitters
-
LRRC8A p.Asp703Asn
Uncertain significance
Multiple submitters
agammaglobulinemia 5, autosomal dominant
- LRRC8A p.Asp806Asn Uncertain significance Multiple submitters
- LRRC8A p.Glu675Lys Uncertain significance Multiple submitters
- LRRC8A p.Gly71Arg Uncertain significance Multiple submitters
- LRRC8A p.Gly71Ser Uncertain significance Multiple submitters
- LRRC8A p.Gly763Ala Uncertain significance Multiple submitters
- LRRC8A p.Ile31Val Uncertain significance Multiple submitters
- LRRC8A p.Ile465Thr Uncertain significance Multiple submitters
- LRRC8A p.Ile500Leu Uncertain significance Multiple submitters
- LRRC8A p.Met194Thr Uncertain significance Multiple submitters
- LRRC8A p.Met337Val Uncertain significance Multiple submitters
- LRRC8A p.Ser355Leu Uncertain significance Multiple submitters
- LRRC8A p.Thr252Asn Uncertain significance Multiple submitters
-
LRRC8A p.Thr469Met
Uncertain significance
Multiple submitters
LRRC8A-related disorder
- LRRC8A p.Thr80Ile Uncertain significance Multiple submitters
- LRRC8A p.Val205Met Uncertain significance Multiple submitters
- LRRC8A p.Val209Met Uncertain significance Multiple submitters
- LRRC8A p.Val231Met Uncertain significance Multiple submitters
- LRRC8A p.Val34Ile Uncertain significance Multiple submitters
- LRRC8A p.Ala11Val Uncertain significance Single submitter
- LRRC8A p.Ala186Gly Uncertain significance Single submitter
- LRRC8A p.Ala424Thr Uncertain significance Single submitter
- LRRC8A p.Ala466Val Uncertain significance Single submitter
- LRRC8A p.Ala480Val Uncertain significance Single submitter
- LRRC8A p.Ala481Thr Uncertain significance Single submitter
- LRRC8A p.Ala485Val Uncertain significance Single submitter
- LRRC8A p.Ala529Thr Uncertain significance Single submitter
- LRRC8A p.Ala591Val Uncertain significance Single submitter
- LRRC8A p.Ala702Pro Uncertain significance Single submitter
- LRRC8A p.Ala702Ser Uncertain significance Single submitter
- LRRC8A p.Ala735Thr Uncertain significance Single submitter
- LRRC8A p.Ala73Ser Uncertain significance Single submitter
- LRRC8A p.Ala74Val Uncertain significance Single submitter
- LRRC8A p.Arg226Cys Uncertain significance Single submitter
- LRRC8A p.Arg226His Uncertain significance Single submitter
- LRRC8A p.Arg251Trp Uncertain significance Single submitter
- LRRC8A p.Arg262His Uncertain significance Single submitter
- LRRC8A p.Arg266Gln Uncertain significance Single submitter
- LRRC8A p.Arg306His Uncertain significance Single submitter
- LRRC8A p.Arg309His Uncertain significance Single submitter
- LRRC8A p.Arg346Cys Uncertain significance Single submitter
- LRRC8A p.Arg346His Uncertain significance Single submitter
- LRRC8A p.Arg417Gln Uncertain significance Single submitter
- LRRC8A p.Arg533His Uncertain significance Single submitter
- LRRC8A p.Arg541Gln Uncertain significance Single submitter
- LRRC8A p.Arg545His Uncertain significance Single submitter
- LRRC8A p.Arg600His Uncertain significance Single submitter
- LRRC8A p.Arg640His Uncertain significance Single submitter
- LRRC8A p.Arg666Cys Uncertain significance Single submitter
- LRRC8A p.Arg671His Uncertain significance Single submitter
- LRRC8A p.Arg685Cys Uncertain significance Single submitter
- LRRC8A p.Arg685His Uncertain significance Single submitter
- LRRC8A p.Arg719Gln Uncertain significance Single submitter
- LRRC8A p.Arg731Gln Uncertain significance Single submitter
- LRRC8A p.Arg749Thr Uncertain significance Single submitter
- LRRC8A p.Arg781Cys Uncertain significance Single submitter
- LRRC8A p.Arg781His Uncertain significance Single submitter
- LRRC8A p.Arg8His Uncertain significance Single submitter
- LRRC8A p.Asn107Ser Uncertain significance Single submitter
- LRRC8A p.Asn575Ser Uncertain significance Single submitter
- LRRC8A p.Asn660Ser Uncertain significance Single submitter
- LRRC8A p.Asn709Ser Uncertain significance Single submitter
- LRRC8A p.Asn764Ser Uncertain significance Single submitter
- LRRC8A p.Asp292Asn Uncertain significance Single submitter
- LRRC8A p.Asp371Asn Uncertain significance Single submitter
- LRRC8A p.Asp67Tyr Uncertain significance Single submitter
- LRRC8A p.Cys310Ser Uncertain significance Single submitter
- LRRC8A p.Gln14Glu Uncertain significance Single submitter
- LRRC8A p.Gln570Arg Uncertain significance Single submitter
- LRRC8A p.Gln729His Uncertain significance Single submitter
- LRRC8A p.Gln809Lys Uncertain significance Single submitter
- LRRC8A p.Glu256Ala Uncertain significance Single submitter
- LRRC8A p.Glu473Val Uncertain significance Single submitter
- LRRC8A p.Glu726Lys Uncertain significance Single submitter
- LRRC8A p.Glu808Gly Uncertain significance Single submitter
- LRRC8A p.Gly192Glu Uncertain significance Single submitter
- LRRC8A p.Gly437Asp Uncertain significance Single submitter
- LRRC8A p.Gly470Ala Uncertain significance Single submitter
- LRRC8A p.Gly705Asp Uncertain significance Single submitter
- LRRC8A p.His522Tyr Uncertain significance Single submitter
- LRRC8A p.His568Asn Uncertain significance Single submitter
- LRRC8A p.His568Tyr Uncertain significance Single submitter
- LRRC8A p.His639Arg Uncertain significance Single submitter
- LRRC8A p.His650Arg Uncertain significance Single submitter
- LRRC8A p.His650Asn Uncertain significance Single submitter
- LRRC8A p.His650Gln Uncertain significance Single submitter
- LRRC8A p.Ile223Val Uncertain significance Single submitter
- LRRC8A p.Ile276Val Uncertain significance Single submitter
- LRRC8A p.Ile33Val Uncertain significance Single submitter
- LRRC8A p.Ile438Val Uncertain significance Single submitter
- LRRC8A p.Ile500Val Uncertain significance Single submitter
- LRRC8A p.Ile535Val Uncertain significance Single submitter
- LRRC8A p.Ile537Val Uncertain significance Single submitter
- LRRC8A p.Ile599Val Uncertain significance Single submitter
- LRRC8A p.Ile629Val Uncertain significance Single submitter
- LRRC8A p.Ile654Leu Uncertain significance Single submitter
- LRRC8A p.Leu128Val Uncertain significance Single submitter
- LRRC8A p.Leu130Pro Uncertain significance Single submitter
- LRRC8A p.Leu277Phe Uncertain significance Single submitter
- LRRC8A p.Leu334Phe Uncertain significance Single submitter
- LRRC8A p.Leu471Phe Uncertain significance Single submitter
- LRRC8A p.Leu540Pro Uncertain significance Single submitter
- LRRC8A p.Leu546Ile Uncertain significance Single submitter
- LRRC8A p.Leu613Phe Uncertain significance Single submitter
- LRRC8A p.Leu697Val Uncertain significance Single submitter
- LRRC8A p.Leu723Val Uncertain significance Single submitter
- LRRC8A p.Leu773Met Uncertain significance Single submitter
- LRRC8A p.Lys184Arg Uncertain significance Single submitter
- LRRC8A p.Lys506Arg Uncertain significance Single submitter
- LRRC8A p.Lys627Arg Uncertain significance Single submitter
- LRRC8A p.Lys98Asn Uncertain significance Single submitter
- LRRC8A p.Lys98Gln Uncertain significance Single submitter
- LRRC8A p.Met211Val Uncertain significance Single submitter
- LRRC8A p.Met35Lys Uncertain significance Single submitter
- LRRC8A p.Phe164Cys Uncertain significance Single submitter
- LRRC8A p.Phe69Leu Uncertain significance Single submitter
- LRRC8A p.Phe728Cys Uncertain significance Single submitter
- LRRC8A p.Pro185Leu Uncertain significance Single submitter
- LRRC8A p.Pro725Leu Uncertain significance Single submitter
- LRRC8A p.Pro747Leu Uncertain significance Single submitter
- LRRC8A p.Pro77Leu Uncertain significance Single submitter
- LRRC8A p.Pro82Ala Uncertain significance Single submitter
- LRRC8A p.Pro82Leu Uncertain significance Single submitter
- LRRC8A p.Ser193Pro Uncertain significance Single submitter
- LRRC8A p.Ser198Leu Uncertain significance Single submitter
- LRRC8A p.Ser199Leu Uncertain significance Single submitter
- LRRC8A p.Ser202Asn Uncertain significance Single submitter
- LRRC8A p.Ser301Arg Uncertain significance Single submitter
- LRRC8A p.Ser355Thr Uncertain significance Single submitter
- LRRC8A p.Ser556Asn Uncertain significance Single submitter
- LRRC8A p.Ser745Leu Uncertain significance Single submitter
- LRRC8A p.Ser782Asn Uncertain significance Single submitter
- LRRC8A p.Thr13Met Uncertain significance Single submitter
Predictors split 66
The independent predictors disagree with each other — read with care.
- LRRC8A p.Arg600Leu Uncertain significance Multiple submitters
- LRRC8A p.Arg731Trp Uncertain significance Multiple submitters
- LRRC8A p.Arg801Trp Uncertain significance Multiple submitters
- LRRC8A p.Asp504Asn Uncertain significance Multiple submitters
- LRRC8A p.Glu359Lys Uncertain significance Multiple submitters
- LRRC8A p.Glu410Lys Uncertain significance Multiple submitters
- LRRC8A p.Thr303Met Uncertain significance Multiple submitters
- LRRC8A p.Val109Leu Uncertain significance Multiple submitters
- LRRC8A p.Val109Met Uncertain significance Multiple submitters
- LRRC8A p.Ala172Val Uncertain significance Single submitter
- LRRC8A p.Ala373Thr Uncertain significance Single submitter
- LRRC8A p.Ala487Thr Uncertain significance Single submitter
- LRRC8A p.Ala487Val Uncertain significance Single submitter
- LRRC8A p.Arg148Cys Uncertain significance Single submitter
- LRRC8A p.Arg251Gln Uncertain significance Single submitter
- LRRC8A p.Arg306Cys Uncertain significance Single submitter
- LRRC8A p.Arg309Cys Uncertain significance Single submitter
- LRRC8A p.Arg417Trp Uncertain significance Single submitter
- LRRC8A p.Arg533Cys Uncertain significance Single submitter
- LRRC8A p.Arg605Cys Uncertain significance Single submitter
- LRRC8A p.Arg640Leu Uncertain significance Single submitter
- LRRC8A p.Arg762Gly Uncertain significance Single submitter
- LRRC8A p.Arg765Trp Uncertain significance Single submitter
- LRRC8A p.Asn400Lys Uncertain significance Single submitter
- LRRC8A p.Asn709Lys Uncertain significance Single submitter
- LRRC8A p.Asp165Asn Uncertain significance Single submitter
- LRRC8A p.Asp204His Uncertain significance Single submitter
- LRRC8A p.Asp258Tyr Uncertain significance Single submitter
- LRRC8A p.Asp620Glu Uncertain significance Single submitter
- LRRC8A p.Asp623Asn Uncertain significance Single submitter
- LRRC8A p.Gln46His Uncertain significance Single submitter
- LRRC8A p.Glu179Lys Uncertain significance Single submitter
- LRRC8A p.Glu429Asp Uncertain significance Single submitter
- LRRC8A p.Glu597Asp Uncertain significance Single submitter
- LRRC8A p.Glu665Gln Uncertain significance Single submitter
- LRRC8A p.Glu760Lys Uncertain significance Single submitter
- LRRC8A p.Gly96Ser Uncertain significance Single submitter
- LRRC8A p.His119Arg Uncertain significance Single submitter
- LRRC8A p.His119Tyr Uncertain significance Single submitter
- LRRC8A p.Ile633Met Uncertain significance Single submitter
- LRRC8A p.Leu378Phe Uncertain significance Single submitter
- LRRC8A p.Leu476Phe Uncertain significance Single submitter
- LRRC8A p.Leu495Val Uncertain significance Single submitter
- LRRC8A p.Lys482Thr Uncertain significance Single submitter
- LRRC8A p.Lys51Glu Uncertain significance Single submitter
- LRRC8A p.Met343Thr Uncertain significance Single submitter
- LRRC8A p.Met35Val Uncertain significance Single submitter
- LRRC8A p.Phe136Tyr Uncertain significance Single submitter
-
LRRC8A p.Phe244Leu
Uncertain significance
Single submitter
LRRC8A-related disorder
- LRRC8A p.Phe331Tyr Uncertain significance Single submitter
- LRRC8A p.Phe502Leu Uncertain significance Single submitter
- LRRC8A p.Pro313Leu Uncertain significance Single submitter
- LRRC8A p.Pro384Leu Uncertain significance Single submitter
- LRRC8A p.Pro3Leu Uncertain significance Single submitter
- LRRC8A p.Pro509Ser Uncertain significance Single submitter
- LRRC8A p.Ser150Gly Uncertain significance Single submitter
- LRRC8A p.Ser553Arg Uncertain significance Single submitter
- LRRC8A p.Ser553Asn Uncertain significance Single submitter
- LRRC8A p.Thr133Met Uncertain significance Single submitter
- LRRC8A p.Thr412Met Uncertain significance Single submitter
- LRRC8A p.Thr479Ile Uncertain significance Single submitter
- LRRC8A p.Thr503Ala Uncertain significance Single submitter
- LRRC8A p.Thr793Ile Uncertain significance Single submitter
- LRRC8A p.Val157Met Uncertain significance Single submitter
- LRRC8A p.Val450Ala Uncertain significance Single submitter
- LRRC8A p.Val459Met Uncertain significance Single submitter
All LRRC8A variants
Conflicting classifications of pathogenicity 8
- p.Ala529Val Single submitter LRRC8A-related disorder ⚠
- p.Arg550Trp Single submitter ⚠
- p.Glu775Lys Single submitter ⚠
- p.Gly705Ser Single submitter ⚠
- p.Gly783Ser Single submitter ⚠
- p.Pro88Leu Single submitter ⚠
- p.Ser68Leu Single submitter agammaglobulinemia 5, autosomal dominant ⚠
- p.Val297Met Single submitter ⚠
Benign 16
- c.2157+11C>T Multiple submitters agammaglobulinemia 5, autosomal dominant
- c.-8-11C>T Multiple submitters
- p.Ala111= Multiple submitters
- p.Ala480= Multiple submitters
- p.Arg492= Multiple submitters agammaglobulinemia 5, autosomal dominant
- p.Asp258= Multiple submitters agammaglobulinemia 5, autosomal dominant
- p.Cys601= Multiple submitters agammaglobulinemia 5, autosomal dominant
- p.Glu665= Multiple submitters agammaglobulinemia 5, autosomal dominant
- p.Leu706= Multiple submitters agammaglobulinemia 5, autosomal dominant
- p.Thr503= Multiple submitters agammaglobulinemia 5, autosomal dominant
- p.Tyr17= Multiple submitters agammaglobulinemia 5, autosomal dominant
- p.Tyr338= Multiple submitters agammaglobulinemia 5, autosomal dominant
- c.-2C>T Single submitter agammaglobulinemia 5, autosomal dominant
- p.Arg306= Single submitter
- p.Asn409= Single submitter
- p.Phe41= Single submitter
Benign/Likely benign 10
- p.Ala39= Multiple submitters
- p.Leu596= Multiple submitters
- p.Pro313= Multiple submitters
- p.Pro457= Multiple submitters agammaglobulinemia 5, autosomal dominant
- p.Pro486= Multiple submitters agammaglobulinemia 5, autosomal dominant
- p.Thr89= Multiple submitters
- p.Tyr108= Multiple submitters
- p.Tyr285= Multiple submitters
- p.Tyr332= Multiple submitters
- p.Val536Ile Multiple submitters agammaglobulinemia 5, autosomal dominant
Likely benign 203
- c.2157+12G>A Multiple submitters
- p.Ala11= Multiple submitters agammaglobulinemia 5, autosomal dominant
- p.Ala391= Multiple submitters
- p.Ala424= Multiple submitters
- p.Ala487= Multiple submitters
- p.Ala529= Multiple submitters
- p.Arg262= Multiple submitters
- p.Arg70= Multiple submitters
- p.Arg731= Multiple submitters
- p.Asn423= Multiple submitters
- p.Asn741= Multiple submitters
- p.Asp292= Multiple submitters
- p.His312= Multiple submitters
- p.Ile289= Multiple submitters
- p.Leu555= Multiple submitters
- p.Phe390= Multiple submitters
- p.Pro147= Multiple submitters
- p.Pro509= Multiple submitters
- p.Ser181= Multiple submitters
- p.Thr13= Multiple submitters
- p.Thr133= Multiple submitters
- p.Thr200= Multiple submitters
- p.Thr757= Multiple submitters
- p.Val567Met Multiple submitters agammaglobulinemia 5, autosomal dominant
- c.2157+8G>A Single submitter
- c.2158-11T>C Single submitter
- c.2158-18C>G Single submitter
- c.2158-7C>G Single submitter
- c.2158-9T>C Single submitter
- c.2158-9T>G Single submitter
- p.Ala16= Single submitter
- p.Ala172= Single submitter
- p.Ala186= Single submitter
- p.Ala242= Single submitter
- p.Ala311= Single submitter
- p.Ala322= Single submitter
- p.Ala466= Single submitter
- p.Ala485= Single submitter
- p.Ala497= Single submitter
- p.Ala591= Single submitter
- p.Ala702= Single submitter
- p.Ala810= Single submitter
- p.Arg117= Single submitter
- p.Arg345= Single submitter
- p.Arg357= Single submitter
- p.Arg496= Single submitter
- p.Arg541= Single submitter
- p.Arg685= Single submitter
- p.Arg801= Single submitter
- p.Arg804= Single submitter
- p.Asn370= Single submitter
- p.Asn526= Single submitter
- p.Asn531= Single submitter
- p.Asn576= Single submitter
- p.Asn585= Single submitter
- p.Asn670= Single submitter
- p.Asn696= Single submitter
- p.Asp110= Single submitter
- p.Asp204= Single submitter
- p.Asp426= Single submitter
- p.Asp458= Single submitter
- p.Asp538= Single submitter
- p.Asp63= Single submitter
- p.Asp691= Single submitter
- p.Cys295= Single submitter
- p.Cys776= Single submitter
- p.Gln105= Single submitter
- p.Gln617= Single submitter
- p.Glu236= Single submitter
- p.Glu358= Single submitter
- p.Glu760= Single submitter
- p.Glu78= Single submitter
- p.Glu797= Single submitter
- p.Glu800= Single submitter
- p.Gly230= Single submitter
- p.Gly257= Single submitter
- p.Gly304= Single submitter
- p.Gly42= Single submitter
- p.Gly43= Single submitter
- p.Gly566= Single submitter
- p.Gly578= Single submitter
- p.Gly751= Single submitter
- p.Gly76= Single submitter
- p.Gly774= Single submitter
- p.His132= Single submitter
- p.His155= Single submitter
- p.His253= Single submitter
- p.His287= Single submitter
- p.His377= Single submitter
- p.His499= Single submitter
- p.His568= Single submitter
- p.Ile219= Single submitter
- p.Ile223= Single submitter
- p.Ile33= Single submitter
- p.Ile379= Single submitter
- p.Ile508= Single submitter
- p.Ile535= Single submitter
- p.Ile537= Single submitter
- p.Ile582= Single submitter
- p.Ile606= Single submitter
- p.Ile629= Single submitter
- p.Ile654= Single submitter
- p.Ile658= Single submitter
- p.Ile704= Single submitter
- p.Ile720= Single submitter
- p.Ile759= Single submitter
- p.Leu134= Single submitter
- p.Leu173= Single submitter
- p.Leu243= Single submitter
- p.Leu328= Single submitter
- p.Leu340= Single submitter
- p.Leu378= Single submitter
- p.Leu385= Single submitter
- p.Leu394= Single submitter
- p.Leu416= Single submitter
- p.Leu45= Single submitter
- p.Leu474= Single submitter
- p.Leu476= Single submitter
- p.Leu495= Single submitter
- p.Leu510= Single submitter
- p.Leu527= Single submitter
- p.Leu549= Single submitter
- p.Leu551= Single submitter
- p.Leu572= Single submitter
- p.Leu581= Single submitter
- p.Leu616= Single submitter
- p.Leu626= Single submitter
- p.Leu638= Single submitter
- p.Leu681= Single submitter
- p.Leu690= Single submitter
- p.Leu738= Single submitter
- p.Leu746= Single submitter
- p.Leu773= Single submitter
- p.Lys123= Single submitter
- p.Lys152= Single submitter
- p.Lys184= Single submitter
- p.Lys271= Single submitter
- p.Lys349= Single submitter
- p.Lys350= Single submitter
- p.Lys58= Single submitter
- p.Lys807= Single submitter
- p.Met194Leu Single submitter agammaglobulinemia 5, autosomal dominant
- p.Phe164= Single submitter
- p.Phe291= Single submitter
- p.Phe372= Single submitter
- p.Phe490= Single submitter
- p.Phe611= Single submitter
- p.Phe728= Single submitter
- p.Pro185= Single submitter
- p.Pro22= Single submitter
- p.Pro3= Single submitter
- p.Pro366= Single submitter
- p.Pro384= Single submitter
- p.Pro462= Single submitter
- p.Pro701= Single submitter
- p.Pro747= Single submitter
- p.Pro75= Single submitter
- p.Pro77= Single submitter
- p.Pro79= Single submitter
- p.Pro795= Single submitter
- p.Pro796= Single submitter
- p.Pro88= Single submitter
- p.Ser151= Single submitter
- p.Ser174= Single submitter
- p.Ser193= Single submitter
- p.Ser198= Single submitter
- p.Ser199= Single submitter
- p.Ser301= Single submitter
- p.Ser352= Single submitter
- p.Ser355= Single submitter
- p.Ser395= Single submitter
- p.Ser528= Single submitter
- p.Ser68= Single submitter
- p.Ser693= Single submitter
- p.Ser782= Single submitter
- p.Ter811= Single submitter
- p.Thr170= Single submitter
- p.Thr208= Single submitter
- p.Thr268= Single submitter
- p.Thr282= Single submitter
- p.Thr296= Single submitter
- p.Thr303= Single submitter
- p.Thr339= Single submitter
- p.Thr412= Single submitter
- p.Thr44= Single submitter
- p.Thr469= Single submitter
- p.Thr48= Single submitter
- p.Thr524= Single submitter
- p.Thr594= Single submitter
- p.Thr716= Single submitter
- p.Thr722= Single submitter
- p.Thr793= Single submitter
- p.Thr92= Single submitter
- p.Tyr124= Single submitter
- p.Tyr534= Single submitter
- p.Val112= Single submitter
- p.Val177= Single submitter
- p.Val247= Single submitter
- p.Val260= Single submitter
- p.Val40= Single submitter
- p.Val47= Single submitter
- p.Val750= Single submitter
- p.Val786= Single submitter
Uncertain significance 283
- p.Ala497Val Multiple submitters ⚠
- p.Arg148His Multiple submitters ⚠
- p.Arg214Gln Multiple submitters ⚠
- p.Arg218Gln Multiple submitters LRRC8A-related disorder ⚠
- p.Arg218Trp Multiple submitters ⚠
- p.Arg262Cys Multiple submitters ⚠
- p.Arg496Gln Multiple submitters ⚠
- p.Arg545Cys Multiple submitters ⚠
- p.Arg550Gln Multiple submitters ⚠
- p.Arg600Cys Multiple submitters ⚠
- p.Arg600Leu Multiple submitters ⚠
- p.Arg666His Multiple submitters ⚠
- p.Arg70Gln Multiple submitters LRRC8A-related disorder ⚠
- p.Arg70Trp Multiple submitters ⚠
- p.Arg719Trp Multiple submitters
- p.Arg731Trp Multiple submitters ⚠
- p.Arg765Gln Multiple submitters ⚠
- p.Arg801Gln Multiple submitters ⚠
- p.Arg801Trp Multiple submitters ⚠
- p.Asn625His Multiple submitters ⚠
- p.Asp294Tyr Multiple submitters ⚠
- p.Asp504Asn Multiple submitters ⚠
- p.Asp703Asn Multiple submitters agammaglobulinemia 5, autosomal dominant ⚠
- p.Asp806Asn Multiple submitters ⚠
- p.Glu359Lys Multiple submitters ⚠
- p.Glu410Lys Multiple submitters ⚠
- p.Glu675Lys Multiple submitters ⚠
- p.Glu797Lys Multiple submitters
- p.Gly71Arg Multiple submitters ⚠
- p.Gly71Ser Multiple submitters ⚠
- p.Gly763Ala Multiple submitters ⚠
- p.Ile31Val Multiple submitters ⚠
- p.Ile465Thr Multiple submitters ⚠
- p.Ile500Leu Multiple submitters ⚠
- p.Met194Thr Multiple submitters ⚠
- p.Met337Val Multiple submitters ⚠
- p.Ser355Leu Multiple submitters ⚠
- p.Thr252Asn Multiple submitters ⚠
- p.Thr303Met Multiple submitters ⚠
- p.Thr469Met Multiple submitters LRRC8A-related disorder ⚠
- p.Thr80Ile Multiple submitters ⚠
- p.Val109Leu Multiple submitters ⚠
- p.Val109Met Multiple submitters ⚠
- p.Val205Met Multiple submitters ⚠
- p.Val209Met Multiple submitters ⚠
- p.Val231Met Multiple submitters ⚠
- p.Val34Ile Multiple submitters ⚠
- c.2157+4A>G Single submitter
- c.2157+6del Single submitter
- p.Ala11Val Single submitter ⚠
- p.Ala172Val Single submitter ⚠
- p.Ala186Gly Single submitter ⚠
- p.Ala373Thr Single submitter ⚠
- p.Ala391fs Single submitter
- p.Ala424Thr Single submitter ⚠
- p.Ala466Val Single submitter ⚠
- p.Ala480Val Single submitter ⚠
- p.Ala481Thr Single submitter ⚠
- p.Ala485Val Single submitter ⚠
- p.Ala487Thr Single submitter ⚠
- p.Ala487Val Single submitter ⚠
- p.Ala529Thr Single submitter ⚠
- p.Ala591Val Single submitter ⚠
- p.Ala702Pro Single submitter ⚠
- p.Ala702Ser Single submitter ⚠
- p.Ala735Thr Single submitter ⚠
- p.Ala73Ser Single submitter ⚠
- p.Ala74Val Single submitter ⚠
- p.Ala810Ile Single submitter
- p.Arg117Ter Single submitter
- p.Arg148Cys Single submitter ⚠
- p.Arg226Cys Single submitter ⚠
- p.Arg226His Single submitter ⚠
- p.Arg251Gln Single submitter ⚠
- p.Arg251Trp Single submitter ⚠
- p.Arg262His Single submitter ⚠
- p.Arg266Gln Single submitter ⚠
- p.Arg306Cys Single submitter ⚠
- p.Arg306His Single submitter ⚠
- p.Arg309Cys Single submitter ⚠
- p.Arg309His Single submitter ⚠
- p.Arg346Cys Single submitter ⚠
- p.Arg346His Single submitter ⚠
- p.Arg417Gln Single submitter ⚠
- p.Arg417Trp Single submitter ⚠
- p.Arg492His Single submitter
- p.Arg533Cys Single submitter ⚠
- p.Arg533His Single submitter ⚠
- p.Arg541Gln Single submitter ⚠
- p.Arg545His Single submitter ⚠
- p.Arg600His Single submitter ⚠
- p.Arg605Cys Single submitter ⚠
- p.Arg640His Single submitter ⚠
- p.Arg640Leu Single submitter ⚠
- p.Arg666Cys Single submitter ⚠
- p.Arg671His Single submitter ⚠
- p.Arg685Cys Single submitter ⚠
- p.Arg685His Single submitter ⚠
- p.Arg685Leu Single submitter
- p.Arg719Gln Single submitter ⚠
- p.Arg731Gln Single submitter ⚠
- p.Arg749Ser Single submitter
- p.Arg749Thr Single submitter ⚠
- p.Arg762Gly Single submitter ⚠
- p.Arg762Trp Single submitter
- p.Arg765Trp Single submitter ⚠
- p.Arg781Cys Single submitter ⚠
- p.Arg781His Single submitter ⚠
- p.Arg8His Single submitter ⚠
- p.Asn107Ser Single submitter ⚠
- p.Asn400Lys Single submitter ⚠
- p.Asn526Tyr Single submitter
- p.Asn575Ser Single submitter ⚠
- p.Asn660Ser Single submitter ⚠
- p.Asn709Lys Single submitter ⚠
- p.Asn709Ser Single submitter ⚠
- p.Asn764Ser Single submitter ⚠
- p.Asp165Asn Single submitter ⚠
- p.Asp204His Single submitter ⚠
- p.Asp258Tyr Single submitter ⚠
- p.Asp292Asn Single submitter ⚠
- p.Asp371Asn Single submitter ⚠
- p.Asp620Glu Single submitter ⚠
- p.Asp623Asn Single submitter ⚠
- p.Asp67Tyr Single submitter ⚠
- p.Cys310Ser Single submitter ⚠
- p.Gln14Glu Single submitter ⚠
- p.Gln14His Single submitter
- p.Gln381fs Single submitter
- p.Gln381Lys Single submitter
- p.Gln46His Single submitter ⚠
- p.Gln570Arg Single submitter ⚠
- p.Gln729His Single submitter ⚠
- p.Gln809Lys Single submitter ⚠
- p.Glu179Lys Single submitter ⚠
- p.Glu256Ala Single submitter ⚠
- p.Glu429Asp Single submitter ⚠
- p.Glu473Val Single submitter ⚠
- p.Glu493Ter Single submitter
- p.Glu597Asp Single submitter ⚠
- p.Glu665Gln Single submitter ⚠
- p.Glu721Lys Single submitter
- p.Glu726Lys Single submitter ⚠
- p.Glu752Lys Single submitter
- p.Glu760Lys Single submitter ⚠
- p.Glu767Ala Single submitter
- p.Glu808Gly Single submitter ⚠
- p.Glu808Val Single submitter
- p.Gly192Glu Single submitter ⚠
- p.Gly437Asp Single submitter ⚠
- p.Gly470Ala Single submitter ⚠
- p.Gly659Ser Single submitter
- p.Gly705Asp Single submitter ⚠
- p.Gly96Ser Single submitter ⚠
- p.His119Arg Single submitter ⚠
- p.His119Tyr Single submitter ⚠
- p.His522Tyr Single submitter ⚠
- p.His568Asn Single submitter ⚠
- p.His568Tyr Single submitter ⚠
- p.His639Arg Single submitter ⚠
- p.His650Arg Single submitter ⚠
- p.His650Asn Single submitter ⚠
- p.His650Gln Single submitter ⚠
- p.Ile223Val Single submitter ⚠
- p.Ile276Val Single submitter ⚠
- p.Ile31fs Single submitter
- p.Ile33Val Single submitter ⚠
- p.Ile438Val Single submitter ⚠
- p.Ile500Val Single submitter ⚠
- p.Ile535Val Single submitter ⚠
- p.Ile537Val Single submitter ⚠
- p.Ile599Val Single submitter ⚠
- p.Ile629Val Single submitter ⚠
- p.Ile633Met Single submitter ⚠
- p.Ile654Leu Single submitter ⚠
- p.Ile658Met Single submitter
- p.Leu128Val Single submitter ⚠
- p.Leu130Pro Single submitter ⚠
- p.Leu212Pro Single submitter
- p.Leu277Phe Single submitter ⚠
- p.Leu334Phe Single submitter ⚠
- p.Leu378Phe Single submitter ⚠
- p.Leu471Phe Single submitter ⚠
- p.Leu476Phe Single submitter ⚠
- p.Leu495Val Single submitter ⚠
- p.Leu540Pro Single submitter ⚠
- p.Leu546Ile Single submitter ⚠
- p.Leu613Phe Single submitter ⚠
- p.Leu667Ile Single submitter
- p.Leu690Met Single submitter
- p.Leu697Val Single submitter ⚠
- p.Leu723Val Single submitter ⚠
- p.Leu756fs Single submitter agammaglobulinemia 5, autosomal dominant
- p.Leu773Met Single submitter ⚠
- p.Lys184Arg Single submitter ⚠
- p.Lys271Arg Single submitter
- p.Lys482Thr Single submitter ⚠
- p.Lys506Arg Single submitter ⚠
- p.Lys51Glu Single submitter ⚠
- p.Lys627Arg Single submitter ⚠
- p.Lys98Asn Single submitter ⚠
- p.Lys98Gln Single submitter ⚠
- p.Met211Val Single submitter ⚠
- p.Met343Thr Single submitter ⚠
- p.Met35Lys Single submitter ⚠
- p.Met35Val Single submitter ⚠
- p.Phe136Tyr Single submitter ⚠
- p.Phe164Cys Single submitter ⚠
- p.Phe244Leu Single submitter LRRC8A-related disorder ⚠
- p.Phe324del Single submitter
- p.Phe331Tyr Single submitter ⚠
- p.Phe502Leu Single submitter ⚠
- p.Phe69Leu Single submitter ⚠
- p.Phe728Cys Single submitter ⚠
- p.Pro15Leu Single submitter
- p.Pro185Leu Single submitter ⚠
- p.Pro313Leu Single submitter ⚠
- p.Pro384Leu Single submitter ⚠
- p.Pro3Leu Single submitter ⚠
- p.Pro509Ser Single submitter ⚠
- p.Pro725Leu Single submitter ⚠
- p.Pro747Leu Single submitter ⚠
- p.Pro77Leu Single submitter ⚠
- p.Pro82Ala Single submitter ⚠
- p.Pro82Leu Single submitter ⚠
- p.Ser150Gly Single submitter ⚠
- p.Ser193Pro Single submitter ⚠
- p.Ser198Leu Single submitter ⚠
- p.Ser199Leu Single submitter ⚠
- p.Ser202Asn Single submitter ⚠
- p.Ser202Ile Single submitter
- p.Ser301Arg Single submitter ⚠
- p.Ser355Thr Single submitter ⚠
- p.Ser553Arg Single submitter ⚠
- p.Ser553Asn Single submitter ⚠
- p.Ser556Asn Single submitter ⚠
- p.Ser745Leu Single submitter ⚠
- p.Ser782Asn Single submitter ⚠
- p.Ser84fs Single submitter
- p.Thr133Met Single submitter ⚠
- p.Thr13Met Single submitter ⚠
- p.Thr215Ser Single submitter ⚠
- p.Thr229Met Single submitter ⚠
- p.Thr282Ala Single submitter ⚠
- p.Thr412Met Single submitter ⚠
- p.Thr421Ser Single submitter ⚠
- p.Thr44fs Single submitter
- p.Thr460Asn Single submitter ⚠
- p.Thr479Ala Single submitter ⚠
- p.Thr479Ile Single submitter ⚠
- p.Thr503Ala Single submitter ⚠
- p.Thr642Ile Single submitter ⚠
- p.Thr662Asn Single submitter ⚠
- p.Thr679Ala Single submitter ⚠
- p.Thr679fs Single submitter
- p.Thr722Met Single submitter ⚠
- p.Thr757Met Single submitter ⚠
- p.Thr793Ile Single submitter ⚠
- p.Thr85Ile Single submitter ⚠
- p.Thr85Ser Single submitter ⚠
- p.Thr92Ala Single submitter ⚠
- p.Thr92Met Single submitter ⚠
- p.Thr95Ala Single submitter ⚠
- p.Thr95Ile Single submitter ⚠
- p.Trp341Cys Single submitter ⚠
- p.Tyr114Cys Single submitter ⚠
- p.Tyr30del Single submitter
- p.Tyr534His Single submitter ⚠
- p.Val157Met Single submitter ⚠
- p.Val201Ile Single submitter ⚠
- p.Val283Ile Single submitter ⚠
- p.Val286Leu Single submitter
- p.Val286Met Single submitter
- p.Val293Met Single submitter ⚠
- p.Val297Glu Single submitter ⚠
- p.Val368Ile Single submitter ⚠
- p.Val40Ile Single submitter ⚠
- p.Val450Ala Single submitter ⚠
- p.Val459Met Single submitter ⚠
- p.Val742Leu Single submitter ⚠
- p.Val771Glu Single submitter ⚠
- p.Val785Met Single submitter ⚠
- p.Val224Met No assertion criteria ⚠