ARHGEF1 — 895 ClinVar variants
All ClinVar germline ARHGEF1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 399 flagged for review →
5 Conflicting · 30 Benign · 5 Benign/Likely benign · 396 Likely benign · 459 Uncertain significance
Full ARHGEF1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 399
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 2
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 235
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 235
- ARHGEF1 p.Ala119Thr Uncertain significance Multiple submitters
- ARHGEF1 p.Ala361Val Uncertain significance Multiple submitters
- ARHGEF1 p.Arg124Cys Uncertain significance Multiple submitters
- ARHGEF1 p.Arg254Gln Uncertain significance Multiple submitters
- ARHGEF1 p.Arg301Gln Uncertain significance Multiple submitters
- ARHGEF1 p.Arg336Gln Uncertain significance Multiple submitters
- ARHGEF1 p.Arg385Gln Uncertain significance Multiple submitters
- ARHGEF1 p.Arg436Trp Uncertain significance Multiple submitters
- ARHGEF1 p.Arg477His Uncertain significance Multiple submitters
- ARHGEF1 p.Arg518His Uncertain significance Multiple submitters
- ARHGEF1 p.Arg546His Uncertain significance Multiple submitters
- ARHGEF1 p.Arg585Gln Uncertain significance Multiple submitters
- ARHGEF1 p.Arg6Pro Uncertain significance Multiple submitters
- ARHGEF1 p.Arg748Trp Uncertain significance Multiple submitters
- ARHGEF1 p.Arg774Gln Uncertain significance Multiple submitters
- ARHGEF1 p.Asn275Ser Uncertain significance Multiple submitters
- ARHGEF1 p.Asn904Ile Uncertain significance Multiple submitters
- ARHGEF1 p.Asp211Asn Uncertain significance Multiple submitters
- ARHGEF1 p.Asp623Val Uncertain significance Multiple submitters
- ARHGEF1 p.Cys594Ser Uncertain significance Multiple submitters
- ARHGEF1 p.Glu589Asp Uncertain significance Multiple submitters
- ARHGEF1 p.Glu593Lys Uncertain significance Multiple submitters
- ARHGEF1 p.Glu879Asp Uncertain significance Multiple submitters
- ARHGEF1 p.Gly576Arg Uncertain significance Multiple submitters
- ARHGEF1 p.Gly860Ser Uncertain significance Multiple submitters
- ARHGEF1 p.Leu287Pro Uncertain significance Multiple submitters
- ARHGEF1 p.Leu331Val Uncertain significance Multiple submitters
- ARHGEF1 p.Leu344Val Uncertain significance Multiple submitters
- ARHGEF1 p.Leu346Pro Uncertain significance Multiple submitters
- ARHGEF1 p.Leu357Arg Uncertain significance Multiple submitters
- ARHGEF1 p.Lys262Arg Uncertain significance Multiple submitters
- ARHGEF1 p.Lys529Arg Uncertain significance Multiple submitters
- ARHGEF1 p.Met355Val Uncertain significance Multiple submitters
- ARHGEF1 p.Pro351Leu Uncertain significance Multiple submitters
- ARHGEF1 p.Pro582Thr Uncertain significance Multiple submitters
- ARHGEF1 p.Pro773Ser Uncertain significance Multiple submitters
- ARHGEF1 p.Pro777Leu Uncertain significance Multiple submitters
- ARHGEF1 p.Pro849Thr Uncertain significance Multiple submitters
- ARHGEF1 p.Ser240Leu Uncertain significance Multiple submitters
- ARHGEF1 p.Ser386Leu Uncertain significance Multiple submitters
- ARHGEF1 p.Tyr618Cys Uncertain significance Multiple submitters
- ARHGEF1 p.Val19Leu Uncertain significance Multiple submitters
- ARHGEF1 p.Ala108Val Uncertain significance Single submitter
- ARHGEF1 p.Ala149Ser Uncertain significance Single submitter
- ARHGEF1 p.Ala216Thr Uncertain significance Single submitter
- ARHGEF1 p.Ala259Val Uncertain significance Single submitter
- ARHGEF1 p.Ala271Pro Uncertain significance Single submitter
- ARHGEF1 p.Ala271Thr Uncertain significance Single submitter
- ARHGEF1 p.Ala272Thr Uncertain significance Single submitter
- ARHGEF1 p.Ala289Thr Uncertain significance Single submitter
- ARHGEF1 p.Ala298Thr Uncertain significance Single submitter
- ARHGEF1 p.Ala316Asp Uncertain significance Single submitter
- ARHGEF1 p.Ala316Thr Uncertain significance Single submitter
- ARHGEF1 p.Ala342Pro Uncertain significance Single submitter
- ARHGEF1 p.Ala342Val Uncertain significance Single submitter
- ARHGEF1 p.Ala370Gly Uncertain significance Single submitter
- ARHGEF1 p.Ala447Val Uncertain significance Single submitter
- ARHGEF1 p.Ala543Val Uncertain significance Single submitter
- ARHGEF1 p.Ala5Thr Uncertain significance Single submitter
- ARHGEF1 p.Ala753Thr Uncertain significance Single submitter
- ARHGEF1 p.Ala802Val Uncertain significance Single submitter
- ARHGEF1 p.Ala841Glu Uncertain significance Single submitter
- ARHGEF1 p.Ala841Thr Uncertain significance Single submitter
- ARHGEF1 p.Ala847Val Uncertain significance Single submitter
- ARHGEF1 p.Arg136Gln Uncertain significance Single submitter
- ARHGEF1 p.Arg137Gln Uncertain significance Single submitter
- ARHGEF1 p.Arg152Leu Uncertain significance Single submitter
- ARHGEF1 p.Arg15Gln Uncertain significance Single submitter
- ARHGEF1 p.Arg181Gln Uncertain significance Single submitter
- ARHGEF1 p.Arg183Gln Uncertain significance Single submitter
- ARHGEF1 p.Arg196Gln Uncertain significance Single submitter
- ARHGEF1 p.Arg227Cys Uncertain significance Single submitter
- ARHGEF1 p.Arg273Gly Uncertain significance Single submitter
- ARHGEF1 p.Arg310Gln Uncertain significance Single submitter
- ARHGEF1 p.Arg312Gln Uncertain significance Single submitter
- ARHGEF1 p.Arg312Trp Uncertain significance Single submitter
- ARHGEF1 p.Arg433Leu Uncertain significance Single submitter
- ARHGEF1 p.Arg436Leu Uncertain significance Single submitter
- ARHGEF1 p.Arg477Cys Uncertain significance Single submitter
- ARHGEF1 p.Arg477Ser Uncertain significance Single submitter
- ARHGEF1 p.Arg499Gln Uncertain significance Single submitter
- ARHGEF1 p.Arg531Cys Uncertain significance Single submitter
- ARHGEF1 p.Arg535Pro Uncertain significance Single submitter
- ARHGEF1 p.Arg54Gln Uncertain significance Single submitter
- ARHGEF1 p.Arg550His Uncertain significance Single submitter
- ARHGEF1 p.Arg551Cys Uncertain significance Single submitter
- ARHGEF1 p.Arg551His Uncertain significance Single submitter
- ARHGEF1 p.Arg564Gln Uncertain significance Single submitter
- ARHGEF1 p.Arg6Gln Uncertain significance Single submitter
- ARHGEF1 p.Arg705Trp Uncertain significance Single submitter
- ARHGEF1 p.Arg781Gln Uncertain significance Single submitter
- ARHGEF1 p.Arg795Gln Uncertain significance Single submitter
- ARHGEF1 p.Arg803Gln Uncertain significance Single submitter
- ARHGEF1 p.Arg829Gln Uncertain significance Single submitter
- ARHGEF1 p.Arg851Gln Uncertain significance Single submitter
- ARHGEF1 p.Arg851Gly Uncertain significance Single submitter
- ARHGEF1 p.Arg851Leu Uncertain significance Single submitter
- ARHGEF1 p.Asn117Ser Uncertain significance Single submitter
- ARHGEF1 p.Asn220Ser Uncertain significance Single submitter
- ARHGEF1 p.Asn792Ser Uncertain significance Single submitter
- ARHGEF1 p.Asn845Lys Uncertain significance Single submitter
- ARHGEF1 p.Asn845Ser Uncertain significance Single submitter
- ARHGEF1 p.Asp211Gly Uncertain significance Single submitter
- ARHGEF1 p.Asp335Gly Uncertain significance Single submitter
- ARHGEF1 p.Asp335Val Uncertain significance Single submitter
- ARHGEF1 p.Asp341Gly Uncertain significance Single submitter
- ARHGEF1 p.Asp379Glu Uncertain significance Single submitter
- ARHGEF1 p.Asp476Tyr Uncertain significance Single submitter
-
ARHGEF1 p.Asp494Tyr
Uncertain significance
Single submitter
immunodeficiency 62
- ARHGEF1 p.Asp623Glu Uncertain significance Single submitter
- ARHGEF1 p.Asp682His Uncertain significance Single submitter
- ARHGEF1 p.Asp721Asn Uncertain significance Single submitter
- ARHGEF1 p.Asp801Ala Uncertain significance Single submitter
- ARHGEF1 p.Asp801His Uncertain significance Single submitter
- ARHGEF1 p.Asp854Asn Uncertain significance Single submitter
- ARHGEF1 p.Cys594Tyr Uncertain significance Single submitter
- ARHGEF1 p.Gln147Lys Uncertain significance Single submitter
- ARHGEF1 p.Gln170Arg Uncertain significance Single submitter
- ARHGEF1 p.Gln280Arg Uncertain significance Single submitter
- ARHGEF1 p.Gln280His Uncertain significance Single submitter
- ARHGEF1 p.Gln319Lys Uncertain significance Single submitter
- ARHGEF1 p.Gln45His Uncertain significance Single submitter
- ARHGEF1 p.Gln577Arg Uncertain significance Single submitter
- ARHGEF1 p.Gln736His Uncertain significance Single submitter
- ARHGEF1 p.Gln908Lys Uncertain significance Single submitter
- ARHGEF1 p.Glu132Lys Uncertain significance Single submitter
- ARHGEF1 p.Glu176Asp Uncertain significance Single submitter
- ARHGEF1 p.Glu257Asp Uncertain significance Single submitter
- ARHGEF1 p.Glu257Lys Uncertain significance Single submitter
- ARHGEF1 p.Glu278Gly Uncertain significance Single submitter
- ARHGEF1 p.Glu294Lys Uncertain significance Single submitter
- ARHGEF1 p.Glu364Asp Uncertain significance Single submitter
- ARHGEF1 p.Glu368Val Uncertain significance Single submitter
- ARHGEF1 p.Glu382Gln Uncertain significance Single submitter
- ARHGEF1 p.Glu389Asp Uncertain significance Single submitter
- ARHGEF1 p.Glu389Gly Uncertain significance Single submitter
- ARHGEF1 p.Glu41Asp Uncertain significance Single submitter
- ARHGEF1 p.Glu466Gly Uncertain significance Single submitter
- ARHGEF1 p.Glu597Gln Uncertain significance Single submitter
- ARHGEF1 p.Glu805Gln Uncertain significance Single submitter
- ARHGEF1 p.Glu842Ala Uncertain significance Single submitter
- ARHGEF1 p.Glu842Asp Uncertain significance Single submitter
- ARHGEF1 p.Gly223Ser Uncertain significance Single submitter
- ARHGEF1 p.Gly230Arg Uncertain significance Single submitter
- ARHGEF1 p.Gly304Arg Uncertain significance Single submitter
- ARHGEF1 p.Gly315Glu Uncertain significance Single submitter
- ARHGEF1 p.Gly347Glu Uncertain significance Single submitter
- ARHGEF1 p.Gly353Asp Uncertain significance Single submitter
- ARHGEF1 p.Gly397Ser Uncertain significance Single submitter
- ARHGEF1 p.Gly486Asp Uncertain significance Single submitter
Predictors split 162
The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 162
- ARHGEF1 p.Ala528Val Uncertain significance Multiple submitters
- ARHGEF1 p.Arg158Cys Uncertain significance Multiple submitters
- ARHGEF1 p.Arg158His Uncertain significance Multiple submitters
- ARHGEF1 p.Arg161Gln Uncertain significance Multiple submitters
- ARHGEF1 p.Arg191Gln Uncertain significance Multiple submitters
- ARHGEF1 p.Arg191Trp Uncertain significance Multiple submitters
- ARHGEF1 p.Arg196Trp Uncertain significance Multiple submitters
- ARHGEF1 p.Arg276Trp Uncertain significance Multiple submitters
- ARHGEF1 p.Arg301Trp Uncertain significance Multiple submitters
- ARHGEF1 p.Arg385Trp Uncertain significance Multiple submitters
- ARHGEF1 p.Arg535Gln Uncertain significance Multiple submitters
- ARHGEF1 p.Arg546Cys Uncertain significance Multiple submitters
- ARHGEF1 p.Arg548Gln Uncertain significance Multiple submitters
- ARHGEF1 p.Arg548Trp Uncertain significance Multiple submitters
- ARHGEF1 p.Arg596Gln Uncertain significance Multiple submitters
- ARHGEF1 p.Arg607His Uncertain significance Multiple submitters
- ARHGEF1 p.Arg680His Uncertain significance Multiple submitters
- ARHGEF1 p.Arg748Gln Uncertain significance Multiple submitters
- ARHGEF1 p.Arg770Cys Uncertain significance Multiple submitters
- ARHGEF1 p.Arg866Trp Uncertain significance Multiple submitters
- ARHGEF1 p.Arg893Cys Uncertain significance Multiple submitters
- ARHGEF1 p.Arg893His Uncertain significance Multiple submitters
- ARHGEF1 p.Asn640Thr Uncertain significance Multiple submitters
- ARHGEF1 p.Asp494Glu Uncertain significance Multiple submitters
- ARHGEF1 p.Asp682Glu Uncertain significance Multiple submitters
- ARHGEF1 p.Asp82Asn Uncertain significance Multiple submitters
- ARHGEF1 p.Glu376Lys Uncertain significance Multiple submitters
- ARHGEF1 p.Glu455Lys Uncertain significance Multiple submitters
-
ARHGEF1 p.Glu717Lys
Uncertain significance
Multiple submitters
immunodeficiency 62
- ARHGEF1 p.Glu805Lys Uncertain significance Multiple submitters
- ARHGEF1 p.Gly381Trp Uncertain significance Multiple submitters
- ARHGEF1 p.Gly858Val Uncertain significance Multiple submitters
- ARHGEF1 p.His200Tyr Uncertain significance Multiple submitters
- ARHGEF1 p.Leu784Phe Uncertain significance Multiple submitters
- ARHGEF1 p.Met479Ile Uncertain significance Multiple submitters
- ARHGEF1 p.Pro113Leu Uncertain significance Multiple submitters
- ARHGEF1 p.Pro74His Uncertain significance Multiple submitters
- ARHGEF1 p.Pro74Leu Uncertain significance Multiple submitters
- ARHGEF1 p.Ser746Leu Uncertain significance Multiple submitters
- ARHGEF1 p.Thr166Met Uncertain significance Multiple submitters
- ARHGEF1 p.Thr210Ile Uncertain significance Multiple submitters
- ARHGEF1 p.Thr695Met Uncertain significance Multiple submitters
- ARHGEF1 p.Thr880Ile Uncertain significance Multiple submitters
- ARHGEF1 p.Val109Ile Uncertain significance Multiple submitters
- ARHGEF1 p.Val118Ile Uncertain significance Multiple submitters
- ARHGEF1 p.Val139Met Uncertain significance Multiple submitters
- ARHGEF1 p.Val402Ile Uncertain significance Multiple submitters
- ARHGEF1 p.Val658Met Uncertain significance Multiple submitters
- ARHGEF1 p.Ala217Ser Uncertain significance Single submitter
- ARHGEF1 p.Ala221Ser Uncertain significance Single submitter
- ARHGEF1 p.Ala430Thr Uncertain significance Single submitter
- ARHGEF1 p.Ala8Val Uncertain significance Single submitter
- ARHGEF1 p.Ala9Thr Uncertain significance Single submitter
- ARHGEF1 p.Arg111Gln Uncertain significance Single submitter
- ARHGEF1 p.Arg124His Uncertain significance Single submitter
- ARHGEF1 p.Arg136Trp Uncertain significance Single submitter
- ARHGEF1 p.Arg137Leu Uncertain significance Single submitter
- ARHGEF1 p.Arg15Trp Uncertain significance Single submitter
- ARHGEF1 p.Arg161Trp Uncertain significance Single submitter
- ARHGEF1 p.Arg181Trp Uncertain significance Single submitter
- ARHGEF1 p.Arg189Leu Uncertain significance Single submitter
- ARHGEF1 p.Arg227His Uncertain significance Single submitter
- ARHGEF1 p.Arg246Gln Uncertain significance Single submitter
- ARHGEF1 p.Arg253Leu Uncertain significance Single submitter
- ARHGEF1 p.Arg253Trp Likely benign Single submitter
- ARHGEF1 p.Arg254Trp Uncertain significance Single submitter
- ARHGEF1 p.Arg273His Uncertain significance Single submitter
- ARHGEF1 p.Arg310Trp Uncertain significance Single submitter
- ARHGEF1 p.Arg336Trp Uncertain significance Single submitter
- ARHGEF1 p.Arg436Gln Uncertain significance Single submitter
- ARHGEF1 p.Arg481Trp Uncertain significance Single submitter
- ARHGEF1 p.Arg499Gly Uncertain significance Single submitter
- ARHGEF1 p.Arg518Cys Uncertain significance Single submitter
- ARHGEF1 p.Arg54Trp Uncertain significance Single submitter
- ARHGEF1 p.Arg55Cys Uncertain significance Single submitter
- ARHGEF1 p.Arg55His Uncertain significance Single submitter
- ARHGEF1 p.Arg607Cys Uncertain significance Single submitter
- ARHGEF1 p.Arg684Gln Uncertain significance Single submitter
- ARHGEF1 p.Arg692Gln Uncertain significance Single submitter
- ARHGEF1 p.Arg709Gln Uncertain significance Single submitter
- ARHGEF1 p.Arg770His Uncertain significance Single submitter
- ARHGEF1 p.Arg774Trp Uncertain significance Single submitter
- ARHGEF1 p.Arg803Trp Uncertain significance Single submitter
- ARHGEF1 p.Arg829Trp Uncertain significance Single submitter
- ARHGEF1 p.Arg866Gln Conflicting Single submitter
- ARHGEF1 p.Asp237Asn Uncertain significance Single submitter
- ARHGEF1 p.Asp367Asn Uncertain significance Single submitter
- ARHGEF1 p.Asp3His Uncertain significance Single submitter
- ARHGEF1 p.Asp440Asn Uncertain significance Single submitter
- ARHGEF1 p.Asp476Asn Uncertain significance Single submitter
- ARHGEF1 p.Asp632Asn Uncertain significance Single submitter
- ARHGEF1 p.Asp632His Uncertain significance Single submitter
- ARHGEF1 p.Asp699Asn Uncertain significance Single submitter
- ARHGEF1 p.Asp801Tyr Uncertain significance Single submitter
- ARHGEF1 p.Cys815Tyr Uncertain significance Single submitter
- ARHGEF1 p.Gln444Leu Uncertain significance Single submitter
- ARHGEF1 p.Gln541Arg Uncertain significance Single submitter
- ARHGEF1 p.Glu121Gln Uncertain significance Single submitter
- ARHGEF1 p.Glu141Gly Uncertain significance Single submitter
- ARHGEF1 p.Glu187Lys Uncertain significance Single submitter
- ARHGEF1 p.Glu202Lys Uncertain significance Single submitter
- ARHGEF1 p.Glu345Lys Uncertain significance Single submitter
- ARHGEF1 p.Glu358Lys Uncertain significance Single submitter
- ARHGEF1 p.Glu368Lys Uncertain significance Single submitter
- ARHGEF1 p.Glu36Lys Uncertain significance Single submitter
- ARHGEF1 p.Glu400Lys Uncertain significance Single submitter
- ARHGEF1 p.Glu455Gln Uncertain significance Single submitter
- ARHGEF1 p.Glu484Asp Uncertain significance Single submitter
- ARHGEF1 p.Glu490Lys Uncertain significance Single submitter
- ARHGEF1 p.Glu491Gly Uncertain significance Single submitter
- ARHGEF1 p.Glu820Lys Uncertain significance Single submitter
- ARHGEF1 p.Glu843Lys Uncertain significance Single submitter
- ARHGEF1 p.Gly180Arg Uncertain significance Single submitter
- ARHGEF1 p.Gly223Asp Uncertain significance Single submitter
- ARHGEF1 p.Gly304Cys Uncertain significance Single submitter
- ARHGEF1 p.Gly818Asp Uncertain significance Single submitter
- ARHGEF1 p.Gly860Cys Uncertain significance Single submitter
- ARHGEF1 p.His601Tyr Uncertain significance Single submitter
- ARHGEF1 p.Ile130Phe Uncertain significance Single submitter
- ARHGEF1 p.Ile24Thr Uncertain significance Single submitter
- ARHGEF1 p.Ile870Met Uncertain significance Single submitter
- ARHGEF1 p.Leu154Val Uncertain significance Single submitter
- ARHGEF1 p.Leu224Gln Uncertain significance Single submitter
- ARHGEF1 p.Leu229Ile Uncertain significance Single submitter
- ARHGEF1 p.Leu390Phe Uncertain significance Single submitter
- ARHGEF1 p.Leu627Val Uncertain significance Single submitter
- ARHGEF1 p.Leu674Gln Uncertain significance Single submitter
- ARHGEF1 p.Leu785Phe Uncertain significance Single submitter
- ARHGEF1 p.Lys90Arg Uncertain significance Single submitter
- ARHGEF1 p.Phe451Leu Uncertain significance Single submitter
- ARHGEF1 p.Pro11Thr Uncertain significance Single submitter
- ARHGEF1 p.Pro167Leu Uncertain significance Single submitter
- ARHGEF1 p.Pro403Thr Uncertain significance Single submitter
- ARHGEF1 p.Pro453Ala Uncertain significance Single submitter
- ARHGEF1 p.Pro547Leu Uncertain significance Single submitter
- ARHGEF1 p.Pro74Thr Uncertain significance Single submitter
- ARHGEF1 p.Pro864Ser Uncertain significance Single submitter
- ARHGEF1 p.Pro89Leu Uncertain significance Single submitter
- ARHGEF1 p.Ser14Phe Uncertain significance Single submitter
- ARHGEF1 p.Ser325Phe Uncertain significance Single submitter
- ARHGEF1 p.Ser330Phe Uncertain significance Single submitter
- ARHGEF1 p.Ser365Asn Conflicting Single submitter
- ARHGEF1 p.Ser472Thr Uncertain significance Single submitter
- ARHGEF1 p.Ser485Arg Uncertain significance Single submitter
- ARHGEF1 p.Ser863Ile Uncertain significance Single submitter
- ARHGEF1 p.Thr299Ile Uncertain significance Single submitter
- ARHGEF1 p.Thr366Ile Uncertain significance Single submitter
- ARHGEF1 p.Thr560Met Uncertain significance Single submitter
- ARHGEF1 p.Thr655Met Uncertain significance Single submitter
- ARHGEF1 p.Thr780Ile Uncertain significance Single submitter
All ARHGEF1 variants
Conflicting classifications of pathogenicity 5
- p.Ala342Thr Single submitter ⚠
- p.Ala841Val Single submitter immunodeficiency 62 ⚠
- p.Arg866Gln Single submitter ⚠
- p.Ser365Asn Single submitter ⚠
- p.Thr797Met Single submitter ⚠
Benign 30
- c.112-4C>G Multiple submitters
- c.1497+20C>T Multiple submitters
- c.2405-5T>C Multiple submitters
- c.-19-5T>C Multiple submitters
- c.-20+1192C>A Multiple submitters
- p.Arg684= Multiple submitters
- p.Ile24= Multiple submitters
- p.Leu478= Multiple submitters
- p.Pro375Leu Multiple submitters
- c.1016-42dup Single submitter
- c.1016-5C>T Single submitter
- c.112-16C>T Single submitter
- c.112-3dup Single submitter
- c.1839+121TG[3] Single submitter
- c.1839+122_1839+123insCG Single submitter
- c.1839+122_1839+123insGG Single submitter
- c.1839+125_1839+126insGA Single submitter
- c.1917+14C>T Single submitter
- c.2249+11del Single submitter
- c.2249+11dup Single submitter
- c.2336+10dup Single submitter
- c.2336+7G>C Single submitter
- c.2404+8C>T Single submitter
- c.2492-8dup Single submitter
- c.25-10C>G Single submitter
- c.2655+22dup Single submitter
- c.2655+6dup Single submitter
- c.368-90A>G Single submitter
- p.Thr695= Single submitter
- p.Thr797= Single submitter
Benign/Likely benign 5
- c.1414+9_1414+44del Multiple submitters
- c.842-7G>A Multiple submitters
- p.Ala753= Multiple submitters
- p.Asp256= Multiple submitters
- p.Pro72= Multiple submitters
Likely benign 396
Showing the top 300 by review status; the full set is in the sitemap.
- c.1498-5T>C Multiple submitters
- c.2249+7G>C Multiple submitters
- c.2405-16C>T Multiple submitters
- c.2656-8C>A Multiple submitters
- c.745-14C>A Multiple submitters
- p.Ala271= Multiple submitters
- p.Asp672= Multiple submitters
- p.Gln836Glu Multiple submitters
- p.Glu380Asp Multiple submitters
- p.Gly306= Multiple submitters
- p.Leu590= Multiple submitters
- p.Leu894= Multiple submitters
- p.Pro74= Multiple submitters
- p.Thr804= Multiple submitters
- c.1015+10T>A Single submitter
- c.1015+10T>C Single submitter
- c.1015+16G>A Single submitter
- c.1015+18_1015+23del Single submitter
- c.1016-18G>T Single submitter
- c.1016-19T>C Single submitter
- c.1016-5C>A Single submitter
- c.1016-6C>A Single submitter
- c.1016-6C>T Single submitter
- c.111+19G>A Single submitter
- c.112-12C>T Single submitter
- c.112-4C>T Single submitter
- c.1121+15G>T Single submitter
- c.1121+8G>A Single submitter
- c.1122-10C>A Single submitter
- c.1122-12C>T Single submitter
- c.1122-5C>T Single submitter
- c.1122-8G>C Single submitter
- c.1122-9T>C Single submitter
- c.1267+16A>G Single submitter
- c.1268-4G>T Single submitter
- c.1268-6C>T Single submitter
- c.1414+19T>A Single submitter
- c.1414+20C>T Single submitter
- c.1415-20C>G Single submitter
- c.1415-9C>A Single submitter
- c.1497+16C>T Single submitter
- c.1497+19C>A Single submitter
- c.1498-17C>T Single submitter
- c.1498-20T>C Single submitter
- c.1498-7G>A Single submitter
- c.1498-7G>C Single submitter
- c.1498-8C>T Single submitter
- c.1623+12T>A Single submitter
- c.1624-4G>A Single submitter
- c.1624-4G>C Single submitter
- c.1624-5C>T Single submitter
- c.1624-7C>A Single submitter
- c.1624-8dup Single submitter
- c.1738+7C>T Single submitter
- c.1738+8G>A Single submitter
- c.1739-11C>T Single submitter
- c.1739-20G>T Single submitter
- c.1739-9T>C Single submitter
- c.1839+13T>C Single submitter
- c.1839+16C>G Single submitter
- c.1839+18C>T Single submitter
- c.1839+7C>T Single submitter
- c.1840-13G>A Single submitter
- c.1840-18C>A Single submitter
- c.1840-18C>T Single submitter
- c.1840-19G>A Single submitter
- c.1840-4C>T Single submitter
- c.1840-8T>C Single submitter
- c.1840-9_1840-8del Single submitter
- c.1917+12C>T Single submitter
- c.1917+13_1917+14del Single submitter
- c.1917+13C>G Single submitter
- c.1917+17C>T Single submitter
- c.1918-10C>T Single submitter
- c.1918-12C>G Single submitter
- c.1918-13C>A Single submitter
- c.1918-13C>G Single submitter
- c.1918-17A>C Single submitter
- c.1918-5C>T Single submitter
- c.1918-7G>T Single submitter
- c.1993+17C>G Single submitter
- c.1994-10C>T Single submitter
- c.1994-13G>T Single submitter
- c.1994-16A>C Single submitter
- c.1994-18G>C Single submitter
- c.1994-4G>A Single submitter
- c.1994-5C>G Single submitter
- c.1994-5C>T Single submitter
- c.1994-8C>T Single submitter
- c.1994-9G>A Single submitter
- c.2161+10G>A Single submitter
- c.2161+18A>G Single submitter
- c.2161+7G>A Single submitter
- c.2161+8C>T Single submitter
- c.2162-10C>A Single submitter
- c.2162-11del Single submitter
- c.2162-12C>G Single submitter
- c.2162-16C>G Single submitter
- c.2162-4G>A Single submitter
- c.2162-9T>C Single submitter
- c.2249+10G>T Single submitter
- c.2249+11G>A Single submitter
- c.225+15G>C Single submitter
- c.225+16G>T Single submitter
- c.225+7G>A Single submitter
- c.225+9A>C Single submitter
- c.2250-6C>T Single submitter
- c.2250-9del Single submitter
- c.226-13G>A Single submitter
- c.226-19T>C Single submitter
- c.226-7C>T Single submitter
- c.226-9C>G Single submitter
- c.2336+10G>A Single submitter
- c.2336+13A>G Single submitter
- c.2336+17A>T Single submitter
- c.2337-15A>C Single submitter
- c.2337-4T>C Single submitter
- c.2337-5C>T Single submitter
- c.24+12G>C Single submitter
- c.24+18G>T Single submitter
- c.2404+13G>A Single submitter
- c.2404+19T>C Single submitter
- c.2405-12T>C Single submitter
- c.2405-18C>G Single submitter
- c.2405-20C>T Single submitter
- c.2405-9C>T Single submitter
- c.2491+11T>A Single submitter
- c.2491+12C>T Single submitter
- c.2491+15C>T Single submitter
- c.2491+7C>T Single submitter
- c.2491+9G>C Single submitter
- c.2492-11C>T Single submitter
- c.2492-18C>T Single submitter
- c.2492-19C>T Single submitter
- c.2492-9C>T Single submitter
- c.25-11C>T Single submitter
- c.25-14C>G Single submitter
- c.25-15C>G Single submitter
- c.25-18T>C Single submitter
- c.2655+11A>G Single submitter
- c.2655+12C>T Single submitter
- c.2655+13G>A Single submitter
- c.2655+15G>T Single submitter
- c.2655+7C>T Single submitter
- c.2655+8G>A Single submitter
- c.2656-12C>T Single submitter
- c.2656-14C>T Single submitter
- c.2656-19A>G Single submitter
- c.324+13C>A Single submitter
- c.325-11C>T Single submitter
- c.325-16TC[2] Single submitter
- c.325-16TC[3] Single submitter
- c.325-17T>C Single submitter
- c.325-8_325-7del Single submitter
- c.367+11G>A Single submitter
- c.367+15G>A Single submitter
- c.367+17G>A Single submitter
- c.367+20G>T Single submitter
- c.367+8G>A Single submitter
- c.368-10G>A Single submitter
- c.368-11T>C Single submitter
- c.368-12G>A Single submitter
- c.368-4G>A Single submitter
- c.368-5T>C Single submitter
- c.614+19G>A Single submitter
- c.614+9G>C Single submitter
- c.615-10C>T Single submitter
- c.615-15C>G Single submitter
- c.615-19A>G Single submitter
- c.615-6C>T Single submitter
- c.615-7C>T Single submitter
- c.644+10G>A Single submitter
- c.644+20C>T Single submitter
- c.644+7G>A Single submitter
- c.644+7G>T Single submitter
- c.645-18A>C Single submitter
- c.645-8C>T Single submitter
- c.744+16C>A Single submitter
- c.744+16C>T Single submitter
- c.744+19C>T Single submitter
- c.744+20G>A Single submitter
- c.744+7C>T Single submitter
- c.745-11C>T Single submitter
- c.841+10C>T Single submitter
- c.841+10CT[4] Single submitter
- c.841+16C>T Single submitter
- c.841+7C>T Single submitter
- c.842-12C>G Single submitter
- c.842-15TC[2] Single submitter
- c.842-18C>T Single submitter
- c.842-19_842-18del Single submitter
- c.842-7G>T Single submitter
- c.878-20C>G Single submitter
- c.878-8C>T Single submitter
- c.-10G>A Single submitter
- c.-16T>C Single submitter
- c.-17C>T Single submitter
- c.-19-13C>G Single submitter
- c.-19-4C>T Single submitter
- c.-20+1215C>A Single submitter
- c.-20+1215C>T Single submitter
- c.-20+1217G>A Single submitter
- c.-20+1220C>T Single submitter
- c.-20+1223A>G Single submitter
- c.*272G>A Single submitter
- p.Ala149= Single submitter
- p.Ala194= Single submitter
- p.Ala217= Single submitter
- p.Ala221= Single submitter
- p.Ala259= Single submitter
- p.Ala272= Single submitter
- p.Ala289Val Single submitter
- p.Ala293= Single submitter
- p.Ala361= Single submitter
- p.Ala370= Single submitter
- p.Ala429= Single submitter
- p.Ala503= Single submitter
- p.Ala591= Single submitter
- p.Ala592= Single submitter
- p.Ala605= Single submitter
- p.Ala759= Single submitter
- p.Ala766= Single submitter
- p.Ala81= Single submitter
- p.Ala847= Single submitter
- p.Arg124= Single submitter
- p.Arg15= Single submitter
- p.Arg253Trp Single submitter ⚠
- p.Arg254= Single submitter
- p.Arg312= Single submitter
- p.Arg54= Single submitter
- p.Arg546= Single submitter
- p.Arg548= Single submitter
- p.Arg55= Single submitter
- p.Arg716= Single submitter
- p.Arg851= Single submitter
- p.Asn117= Single submitter
- p.Asn220= Single submitter
- p.Asn252= Single submitter
- p.Asn33= Single submitter
- p.Asn459= Single submitter
- p.Asn790= Single submitter
- p.Asp211= Single submitter
- p.Asp300= Single submitter
- p.Asp332= Single submitter
- p.Asp341= Single submitter
- p.Asp348= Single submitter
- p.Asp367= Single submitter
- p.Asp440= Single submitter
- p.Asp465= Single submitter
- p.Asp494= Single submitter
- p.Asp608= Single submitter
- p.Asp632= Single submitter
- p.Asp732= Single submitter
- p.Gln135= Single submitter
- p.Gln577= Single submitter
- p.Gln629= Single submitter
- p.Gln69= Single submitter
- p.Glu132= Single submitter
- p.Glu190= Single submitter
- p.Glu2= Single submitter
- p.Glu202= Single submitter
- p.Glu290= Single submitter
- p.Glu345= Single submitter
- p.Glu393= Single submitter
- p.Glu456= Single submitter
- p.Glu469= Single submitter
- p.Glu484= Single submitter
- p.Glu580= Single submitter
- p.Glu637= Single submitter
- p.Glu683= Single submitter
- p.Glu888= Single submitter
- p.Gly304= Single submitter
- p.Gly318= Single submitter
- p.Gly369= Single submitter
- p.Gly505= Single submitter
- p.Gly652= Single submitter
- p.Gly794= Single submitter
- p.Gly821= Single submitter
- p.Gly846= Single submitter
- p.Gly859= Single submitter
- p.Gly860= Single submitter
- p.Gly903= Single submitter
- p.His192= Single submitter
- p.His431= Single submitter
- p.His58= Single submitter
- p.His600= Single submitter
- p.His601= Single submitter
- p.His650= Single submitter
- p.Ile208= Single submitter
- p.Ile23= Single submitter
- p.Ile314= Single submitter
- p.Ile575= Single submitter
- p.Ile737= Single submitter
- p.Ile755= Single submitter
- p.Leu110= Single submitter
- p.Leu175= Single submitter
- p.Leu18= Single submitter
- p.Leu224= Single submitter
- p.Leu331= Single submitter
- p.Leu344= Single submitter
Uncertain significance 459
Showing the top 300 by review status; the full set is in the sitemap.
- c.1738+5C>T Multiple submitters
- c.644+6G>T Multiple submitters
- c.-20+1180T>A Multiple submitters immunodeficiency 62
- c.-20+1201G>C Multiple submitters
- p.Ala119Thr Multiple submitters ⚠
- p.Ala361Val Multiple submitters ⚠
- p.Ala528Val Multiple submitters ⚠
- p.Arg124Cys Multiple submitters ⚠
- p.Arg158Cys Multiple submitters ⚠
- p.Arg158His Multiple submitters ⚠
- p.Arg161Gln Multiple submitters ⚠
- p.Arg191Gln Multiple submitters ⚠
- p.Arg191Trp Multiple submitters ⚠
- p.Arg196Trp Multiple submitters ⚠
- p.Arg254Gln Multiple submitters ⚠
- p.Arg276Trp Multiple submitters ⚠
- p.Arg301Gln Multiple submitters ⚠
- p.Arg301Trp Multiple submitters ⚠
- p.Arg336Gln Multiple submitters ⚠
- p.Arg385Gln Multiple submitters ⚠
- p.Arg385Trp Multiple submitters ⚠
- p.Arg436Trp Multiple submitters ⚠
- p.Arg477His Multiple submitters ⚠
- p.Arg518His Multiple submitters ⚠
- p.Arg535Gln Multiple submitters ⚠
- p.Arg546Cys Multiple submitters ⚠
- p.Arg546His Multiple submitters ⚠
- p.Arg548Gln Multiple submitters ⚠
- p.Arg548Trp Multiple submitters ⚠
- p.Arg585Gln Multiple submitters ⚠
- p.Arg596Gln Multiple submitters ⚠
- p.Arg607His Multiple submitters ⚠
- p.Arg680His Multiple submitters ⚠
- p.Arg6Pro Multiple submitters ⚠
- p.Arg748Gln Multiple submitters ⚠
- p.Arg748Trp Multiple submitters ⚠
- p.Arg770Cys Multiple submitters ⚠
- p.Arg774Gln Multiple submitters ⚠
- p.Arg866Trp Multiple submitters ⚠
- p.Arg893Cys Multiple submitters ⚠
- p.Arg893His Multiple submitters ⚠
- p.Asn275Ser Multiple submitters ⚠
- p.Asn640Thr Multiple submitters ⚠
- p.Asn904Ile Multiple submitters ⚠
- p.Asp211Asn Multiple submitters ⚠
- p.Asp494Glu Multiple submitters ⚠
- p.Asp623Val Multiple submitters ⚠
- p.Asp682Glu Multiple submitters ⚠
- p.Asp82Asn Multiple submitters ⚠
- p.Cys594Ser Multiple submitters ⚠
- p.Glu376Lys Multiple submitters ⚠
- p.Glu455Lys Multiple submitters ⚠
- p.Glu589Asp Multiple submitters ⚠
- p.Glu593Lys Multiple submitters ⚠
- p.Glu717Lys Multiple submitters immunodeficiency 62 ⚠
- p.Glu805Lys Multiple submitters ⚠
- p.Glu879Asp Multiple submitters ⚠
- p.Gly381Trp Multiple submitters ⚠
- p.Gly576Arg Multiple submitters ⚠
- p.Gly858Val Multiple submitters ⚠
- p.Gly860Ser Multiple submitters ⚠
- p.His200Tyr Multiple submitters ⚠
- p.His471= Multiple submitters
- p.Leu287Pro Multiple submitters ⚠
- p.Leu331Val Multiple submitters ⚠
- p.Leu344Val Multiple submitters ⚠
- p.Leu346Pro Multiple submitters ⚠
- p.Leu357Arg Multiple submitters ⚠
- p.Leu784Phe Multiple submitters ⚠
- p.Lys262Arg Multiple submitters ⚠
- p.Lys529Arg Multiple submitters ⚠
- p.Met355Val Multiple submitters ⚠
- p.Met479Ile Multiple submitters ⚠
- p.Pro113Leu Multiple submitters ⚠
- p.Pro351Leu Multiple submitters ⚠
- p.Pro582Thr Multiple submitters ⚠
- p.Pro74His Multiple submitters ⚠
- p.Pro74Leu Multiple submitters ⚠
- p.Pro773Ser Multiple submitters ⚠
- p.Pro777Leu Multiple submitters ⚠
- p.Pro849Thr Multiple submitters ⚠
- p.Ser240Leu Multiple submitters ⚠
- p.Ser386Leu Multiple submitters ⚠
- p.Ser746Leu Multiple submitters ⚠
- p.Thr166Met Multiple submitters ⚠
- p.Thr210Ile Multiple submitters ⚠
- p.Thr695Met Multiple submitters ⚠
- p.Thr880Ile Multiple submitters ⚠
- p.Tyr618Cys Multiple submitters ⚠
- p.Val109Ile Multiple submitters ⚠
- p.Val118Ile Multiple submitters ⚠
- p.Val139Met Multiple submitters ⚠
- p.Val19Leu Multiple submitters ⚠
- p.Val402Ile Multiple submitters ⚠
- p.Val658Met Multiple submitters ⚠
- c.1015+6_1015+7del Single submitter
- c.1121+5C>T Single submitter
- c.1267+3G>T Single submitter
- c.1414+1G>A Single submitter
- c.1414+3G>A Single submitter
- c.1415-4A>G Single submitter
- c.1415-5C>G Single submitter
- c.1623+6G>A Single submitter
- c.1738+6G>A Single submitter
- c.1917+3G>A Single submitter
- c.1994-3T>C Single submitter
- c.2249+13C>G Single submitter
- c.2249+3G>A Single submitter
- c.2249+6G>A Single submitter
- c.2249+6G>C Single submitter
- c.225+6G>A Single submitter
- c.2337-9_2337-6del Single submitter
- c.24+19G>A Single submitter
- c.2404+3G>A Single submitter
- c.2405-3C>A Single submitter
- c.2405-3C>T Single submitter
- c.2405-6A>G Single submitter
- c.2655+4G>A Single submitter
- c.615-18TC[2] Single submitter
- c.615-3C>T Single submitter
- c.644+3G>A Single submitter
- c.644+5G>T Single submitter
- c.644+6G>A Single submitter
- c.645-3C>T Single submitter
- c.744+6T>C Single submitter
- c.745-3C>T Single submitter
- c.745-8T>G Single submitter
- c.842-1G>C Single submitter
- c.877+5T>G Single submitter
- c.-14C>G Single submitter
- c.-19-3C>T Single submitter
- c.-1G>C Single submitter
- c.-20+1188C>T Single submitter
- c.-20+1192C>G Single submitter
- c.-20+1201G>A Single submitter
- c.-3G>C Single submitter
- c.*139del Single submitter
- c.*19C>T Single submitter
- p.Ala108Val Single submitter ⚠
- p.Ala149Ser Single submitter ⚠
- p.Ala216Thr Single submitter ⚠
- p.Ala217Ser Single submitter ⚠
- p.Ala221Ser Single submitter ⚠
- p.Ala259Val Single submitter ⚠
- p.Ala271Pro Single submitter ⚠
- p.Ala271Thr Single submitter ⚠
- p.Ala272Thr Single submitter ⚠
- p.Ala289Thr Single submitter ⚠
- p.Ala298Thr Single submitter ⚠
- p.Ala316Asp Single submitter ⚠
- p.Ala316Thr Single submitter ⚠
- p.Ala342Pro Single submitter ⚠
- p.Ala342Val Single submitter ⚠
- p.Ala370Gly Single submitter ⚠
- p.Ala430Thr Single submitter ⚠
- p.Ala447Val Single submitter ⚠
- p.Ala543Val Single submitter ⚠
- p.Ala5Thr Single submitter ⚠
- p.Ala753Thr Single submitter ⚠
- p.Ala802Val Single submitter ⚠
- p.Ala841Glu Single submitter ⚠
- p.Ala841Thr Single submitter ⚠
- p.Ala847Val Single submitter ⚠
- p.Ala8Val Single submitter ⚠
- p.Ala9Thr Single submitter ⚠
- p.Arg111Gln Single submitter ⚠
- p.Arg124His Single submitter ⚠
- p.Arg136Gln Single submitter ⚠
- p.Arg136Trp Single submitter ⚠
- p.Arg137Gln Single submitter ⚠
- p.Arg137Leu Single submitter ⚠
- p.Arg152Leu Single submitter ⚠
- p.Arg15Gln Single submitter ⚠
- p.Arg15Trp Single submitter ⚠
- p.Arg161Trp Single submitter ⚠
- p.Arg181Gln Single submitter ⚠
- p.Arg181Trp Single submitter ⚠
- p.Arg183Gln Single submitter ⚠
- p.Arg189Leu Single submitter ⚠
- p.Arg196Gln Single submitter ⚠
- p.Arg227Cys Single submitter ⚠
- p.Arg227His Single submitter ⚠
- p.Arg246Gln Single submitter ⚠
- p.Arg253Leu Single submitter ⚠
- p.Arg254Trp Single submitter ⚠
- p.Arg273Gly Single submitter ⚠
- p.Arg273His Single submitter ⚠
- p.Arg310Gln Single submitter ⚠
- p.Arg310Trp Single submitter ⚠
- p.Arg312Gln Single submitter ⚠
- p.Arg312Trp Single submitter ⚠
- p.Arg336Trp Single submitter ⚠
- p.Arg433Leu Single submitter ⚠
- p.Arg436Gln Single submitter ⚠
- p.Arg436Leu Single submitter ⚠
- p.Arg477Cys Single submitter ⚠
- p.Arg477Ser Single submitter ⚠
- p.Arg481Trp Single submitter ⚠
- p.Arg499Gln Single submitter ⚠
- p.Arg499Gly Single submitter ⚠
- p.Arg518Cys Single submitter ⚠
- p.Arg531Cys Single submitter ⚠
- p.Arg535Pro Single submitter ⚠
- p.Arg54Gln Single submitter ⚠
- p.Arg54Trp Single submitter ⚠
- p.Arg550His Single submitter ⚠
- p.Arg551Cys Single submitter ⚠
- p.Arg551His Single submitter ⚠
- p.Arg55Cys Single submitter ⚠
- p.Arg55His Single submitter ⚠
- p.Arg564Gln Single submitter ⚠
- p.Arg607Cys Single submitter ⚠
- p.Arg684Gln Single submitter ⚠
- p.Arg692Gln Single submitter ⚠
- p.Arg6Gln Single submitter ⚠
- p.Arg705Trp Single submitter ⚠
- p.Arg709Gln Single submitter ⚠
- p.Arg770His Single submitter ⚠
- p.Arg774Trp Single submitter ⚠
- p.Arg781Gln Single submitter ⚠
- p.Arg795Gln Single submitter ⚠
- p.Arg803Gln Single submitter ⚠
- p.Arg803Trp Single submitter ⚠
- p.Arg829Gln Single submitter ⚠
- p.Arg829Trp Single submitter ⚠
- p.Arg851Gln Single submitter ⚠
- p.Arg851Gly Single submitter ⚠
- p.Arg851Leu Single submitter ⚠
- p.Asn117Ser Single submitter ⚠
- p.Asn220Ser Single submitter ⚠
- p.Asn792Ser Single submitter ⚠
- p.Asn845Lys Single submitter ⚠
- p.Asn845Ser Single submitter ⚠
- p.Asp211Gly Single submitter ⚠
- p.Asp237Asn Single submitter ⚠
- p.Asp335Gly Single submitter ⚠
- p.Asp335Val Single submitter ⚠
- p.Asp341Gly Single submitter ⚠
- p.Asp367Asn Single submitter ⚠
- p.Asp379Glu Single submitter ⚠
- p.Asp3His Single submitter ⚠
- p.Asp440Asn Single submitter ⚠
- p.Asp476Asn Single submitter ⚠
- p.Asp476Tyr Single submitter ⚠
- p.Asp494Tyr Single submitter immunodeficiency 62 ⚠
- p.Asp623Glu Single submitter ⚠
- p.Asp632Asn Single submitter ⚠
- p.Asp632His Single submitter ⚠
- p.Asp673_Leu674insValLeuLeuLeuAspAsp Single submitter
- p.Asp682His Single submitter ⚠
- p.Asp699Asn Single submitter ⚠
- p.Asp721Asn Single submitter ⚠
- p.Asp732fs Single submitter
- p.Asp801Ala Single submitter ⚠
- p.Asp801His Single submitter ⚠
- p.Asp801Tyr Single submitter ⚠
- p.Asp854Asn Single submitter ⚠
- p.Cys594Tyr Single submitter ⚠
- p.Cys815Tyr Single submitter ⚠
- p.Gln147Lys Single submitter ⚠
- p.Gln170Arg Single submitter ⚠
- p.Gln280Arg Single submitter ⚠
- p.Gln280His Single submitter ⚠
- p.Gln319Lys Single submitter ⚠
- p.Gln444Leu Single submitter ⚠
- p.Gln45His Single submitter ⚠
- p.Gln541Arg Single submitter ⚠
- p.Gln577Arg Single submitter ⚠
- p.Gln679Ter Single submitter
- p.Gln69Ter Single submitter immunodeficiency 62
- p.Gln736His Single submitter ⚠
- p.Gln908Lys Single submitter ⚠
- p.Glu121Gln Single submitter ⚠
- p.Glu132Lys Single submitter ⚠
- p.Glu141Gly Single submitter ⚠
- p.Glu176Asp Single submitter ⚠
- p.Glu187Lys Single submitter ⚠
- p.Glu202Lys Single submitter ⚠
- p.Glu257Asp Single submitter ⚠
- p.Glu257Lys Single submitter ⚠
- p.Glu278Gly Single submitter ⚠
- p.Glu294Lys Single submitter ⚠
- p.Glu345Lys Single submitter ⚠
- p.Glu358Lys Single submitter ⚠
- p.Glu364Asp Single submitter ⚠
- p.Glu368Lys Single submitter ⚠
- p.Glu368Val Single submitter ⚠
- p.Glu36Lys Single submitter ⚠
- p.Glu382Gln Single submitter ⚠
- p.Glu389Asp Single submitter ⚠
- p.Glu389Gly Single submitter ⚠
- p.Glu400Lys Single submitter ⚠
- p.Glu41Asp Single submitter ⚠
- p.Glu455Gln Single submitter ⚠
- p.Glu456Leu Single submitter
- p.Glu466Gly Single submitter ⚠
- p.Glu484Asp Single submitter ⚠
- p.Glu490Lys Single submitter ⚠
- p.Glu491Gly Single submitter ⚠
- p.Glu597Gln Single submitter ⚠