MCM4 — 685 ClinVar variants
All ClinVar germline MCM4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 291 flagged for review →
1 Pathogenic · 2 Likely pathogenic · 18 Conflicting · 15 Benign · 10 Benign/Likely benign · 268 Likely benign · 371 Uncertain significance
Full MCM4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 291
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 5
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
MCM4 p.Arg610His
Conflicting
Single submitter
primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
- MCM4 p.Arg845His Conflicting Single submitter
- MCM4 p.Lys688Arg Conflicting Single submitter
- MCM4 p.Ser228Cys Conflicting Single submitter
-
MCM4 p.Thr53Ala
Conflicting
Single submitter
primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
Predictors lean, ClinVar uncertain 222
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 222
-
MCM4 p.Ala141Gly
Uncertain significance
Multiple submitters
primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
- MCM4 p.Ala436Thr Uncertain significance Multiple submitters
- MCM4 p.Ala668Thr Uncertain significance Multiple submitters
- MCM4 p.Ala685Val Uncertain significance Multiple submitters
- MCM4 p.Ala694Thr Uncertain significance Multiple submitters
- MCM4 p.Ala713Thr Uncertain significance Multiple submitters
- MCM4 p.Arg224Lys Uncertain significance Multiple submitters
- MCM4 p.Arg319His Uncertain significance Multiple submitters
- MCM4 p.Arg37His Uncertain significance Multiple submitters
- MCM4 p.Arg454Lys Uncertain significance Multiple submitters
-
MCM4 p.Arg554Lys
Uncertain significance
Multiple submitters
primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
- MCM4 p.Arg610Cys Uncertain significance Multiple submitters
- MCM4 p.Arg661His Uncertain significance Multiple submitters
-
MCM4 p.Arg701Gln
Uncertain significance
Multiple submitters
primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
-
MCM4 p.Arg766Trp
Uncertain significance
Multiple submitters
primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
- MCM4 p.Asn242Ser Uncertain significance Multiple submitters
- MCM4 p.Asn264Ser Uncertain significance Multiple submitters
-
MCM4 p.Asn402Ser
Uncertain significance
Multiple submitters
microcephaly
- MCM4 p.Asp278Gly Uncertain significance Multiple submitters
- MCM4 p.Asp58His Uncertain significance Multiple submitters
- MCM4 p.Asp655Asn Uncertain significance Multiple submitters
-
MCM4 p.Asp85Tyr
Uncertain significance
Multiple submitters
primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
-
MCM4 p.Gln300Arg
Uncertain significance
Multiple submitters
primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
- MCM4 p.Gln438Lys Uncertain significance Multiple submitters
- MCM4 p.Gln822Pro Uncertain significance Multiple submitters
- MCM4 p.Glu181Lys Uncertain significance Multiple submitters
- MCM4 p.Glu460Lys Uncertain significance Multiple submitters
- MCM4 p.Gly109Asp Uncertain significance Multiple submitters
- MCM4 p.Gly133Arg Uncertain significance Multiple submitters
-
MCM4 p.Gly287Ser
Uncertain significance
Multiple submitters
primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
- MCM4 p.Gly329Arg Uncertain significance Multiple submitters
- MCM4 p.Gly56Glu Uncertain significance Multiple submitters
- MCM4 p.His588Tyr Uncertain significance Multiple submitters
- MCM4 p.Ile186Val Uncertain significance Multiple submitters
-
MCM4 p.Ile203Thr
Uncertain significance
Multiple submitters
primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
- MCM4 p.Ile393Val Uncertain significance Multiple submitters
- MCM4 p.Ile506Phe Uncertain significance Multiple submitters
- MCM4 p.Ile780Leu Uncertain significance Multiple submitters
- MCM4 p.Ile783Val Uncertain significance Multiple submitters
- MCM4 p.Lys499Arg Uncertain significance Multiple submitters
- MCM4 p.Lys627Glu Uncertain significance Multiple submitters
-
MCM4 p.Met271Val
Uncertain significance
Multiple submitters
primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
- MCM4 p.Met684Thr Uncertain significance Multiple submitters
- MCM4 p.Pro176Thr Uncertain significance Multiple submitters
- MCM4 p.Pro33Leu Uncertain significance Multiple submitters
- MCM4 p.Pro358Leu Uncertain significance Multiple submitters
- MCM4 p.Pro362Ser Uncertain significance Multiple submitters
- MCM4 p.Pro816Arg Uncertain significance Multiple submitters
- MCM4 p.Pro95Ala Uncertain significance Multiple submitters
-
MCM4 p.Thr366Ile
Uncertain significance
Multiple submitters
primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
- MCM4 p.Thr43Ile Uncertain significance Multiple submitters
- MCM4 p.Thr533Met Uncertain significance Multiple submitters
-
MCM4 p.Thr595Ile
Uncertain significance
Multiple submitters
primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
- MCM4 p.Thr778Ser Uncertain significance Multiple submitters
-
MCM4 p.Tyr671Cys
Uncertain significance
Multiple submitters
primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
-
MCM4 p.Val202Ile
Uncertain significance
Multiple submitters
primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
- MCM4 p.Val57Met Uncertain significance Multiple submitters
-
MCM4 p.Val67Met
Uncertain significance
Multiple submitters
primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
-
MCM4 p.Val753Leu
Uncertain significance
Multiple submitters
primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
- MCM4 p.Ala265Thr Uncertain significance Single submitter
- MCM4 p.Ala310Thr Uncertain significance Single submitter
- MCM4 p.Ala338Thr Uncertain significance Single submitter
- MCM4 p.Ala426Val Uncertain significance Single submitter
- MCM4 p.Ala436Val Uncertain significance Single submitter
- MCM4 p.Ala562Thr Uncertain significance Single submitter
- MCM4 p.Ala609Gly Uncertain significance Single submitter
- MCM4 p.Ala616Val Uncertain significance Single submitter
-
MCM4 p.Ala63Ser
Uncertain significance
Single submitter
primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
- MCM4 p.Ala64Thr Uncertain significance Single submitter
- MCM4 p.Ala657Val Uncertain significance Single submitter
- MCM4 p.Ala706Val Uncertain significance Single submitter
- MCM4 p.Ala761Thr Uncertain significance Single submitter
- MCM4 p.Ala79Pro Uncertain significance Single submitter
- MCM4 p.Ala843Val Uncertain significance Single submitter
- MCM4 p.Ala846Thr Uncertain significance Single submitter
- MCM4 p.Ala846Val Uncertain significance Single submitter
- MCM4 p.Ala848Gly Uncertain significance Single submitter
-
MCM4 p.Arg104Lys
Uncertain significance
Single submitter
primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
- MCM4 p.Arg168Lys Uncertain significance Single submitter
- MCM4 p.Arg172His Uncertain significance Single submitter
- MCM4 p.Arg248Cys Uncertain significance Single submitter
- MCM4 p.Arg272Lys Uncertain significance Single submitter
- MCM4 p.Arg30Lys Uncertain significance Single submitter
- MCM4 p.Arg314Gln Uncertain significance Single submitter
- MCM4 p.Arg330His Uncertain significance Single submitter
- MCM4 p.Arg37Leu Uncertain significance Single submitter
- MCM4 p.Arg422Gln Uncertain significance Single submitter
- MCM4 p.Arg428His Uncertain significance Single submitter
- MCM4 p.Arg445His Uncertain significance Single submitter
- MCM4 p.Arg554Gly Uncertain significance Single submitter
- MCM4 p.Arg643Thr Uncertain significance Single submitter
- MCM4 p.Arg724Gln Uncertain significance Single submitter
- MCM4 p.Arg739Cys Uncertain significance Single submitter
- MCM4 p.Arg739His Uncertain significance Single submitter
- MCM4 p.Arg763His Uncertain significance Single submitter
- MCM4 p.Arg766Gln Uncertain significance Single submitter
- MCM4 p.Arg777Gln Uncertain significance Single submitter
- MCM4 p.Arg828Gln Uncertain significance Single submitter
- MCM4 p.Arg98Gln Uncertain significance Single submitter
- MCM4 p.Arg98Trp Uncertain significance Single submitter
- MCM4 p.Asn342Lys Uncertain significance Single submitter
- MCM4 p.Asn608Asp Uncertain significance Single submitter
- MCM4 p.Asp247Tyr Uncertain significance Single submitter
- MCM4 p.Asp251Gly Uncertain significance Single submitter
- MCM4 p.Asp360Asn Uncertain significance Single submitter
- MCM4 p.Asp511Asn Uncertain significance Single submitter
- MCM4 p.Asp574Asn Uncertain significance Single submitter
- MCM4 p.Asp58Gly Uncertain significance Single submitter
- MCM4 p.Asp66His Uncertain significance Single submitter
- MCM4 p.Asp689Asn Uncertain significance Single submitter
- MCM4 p.Asp782Val Uncertain significance Single submitter
- MCM4 p.Gln126Arg Uncertain significance Single submitter
- MCM4 p.Gln144Arg Uncertain significance Single submitter
- MCM4 p.Gln148Glu Uncertain significance Single submitter
- MCM4 p.Gln167Lys Uncertain significance Single submitter
- MCM4 p.Gln307Glu Uncertain significance Single submitter
- MCM4 p.Gln438Arg Uncertain significance Single submitter
- MCM4 p.Gln635Arg Uncertain significance Single submitter
- MCM4 p.Gln74Glu Uncertain significance Single submitter
- MCM4 p.Gln821Arg Uncertain significance Single submitter
- MCM4 p.Glu277Ala Uncertain significance Single submitter
- MCM4 p.Glu316Asp Uncertain significance Single submitter
- MCM4 p.Glu359Lys Uncertain significance Single submitter
- MCM4 p.Glu434Gly Uncertain significance Single submitter
- MCM4 p.Glu443Gly Uncertain significance Single submitter
- MCM4 p.Glu472Gln Uncertain significance Single submitter
-
MCM4 p.Glu674Lys
Uncertain significance
Single submitter
primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
- MCM4 p.Glu735Ala Uncertain significance Single submitter
- MCM4 p.Glu735Gln Uncertain significance Single submitter
- MCM4 p.Glu799Ala Uncertain significance Single submitter
-
MCM4 p.Gly147Asp
Uncertain significance
Single submitter
primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
- MCM4 p.Gly198Arg Uncertain significance Single submitter
- MCM4 p.Gly198Glu Uncertain significance Single submitter
- MCM4 p.Gly364Arg Uncertain significance Single submitter
- MCM4 p.His332Tyr Uncertain significance Single submitter
- MCM4 p.His341Asn Uncertain significance Single submitter
-
MCM4 p.His368Pro
Uncertain significance
Single submitter
primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
- MCM4 p.His420Arg Uncertain significance Single submitter
- MCM4 p.His664Arg Uncertain significance Single submitter
- MCM4 p.His695Arg Uncertain significance Single submitter
- MCM4 p.His765Gln Uncertain significance Single submitter
- MCM4 p.His76Arg Uncertain significance Single submitter
- MCM4 p.Ile139Thr Uncertain significance Single submitter
- MCM4 p.Ile139Val Uncertain significance Single submitter
- MCM4 p.Ile174Thr Uncertain significance Single submitter
- MCM4 p.Ile186Thr Uncertain significance Single submitter
- MCM4 p.Ile371Thr Uncertain significance Single submitter
- MCM4 p.Ile416Thr Uncertain significance Single submitter
- MCM4 p.Ile647Thr Uncertain significance Single submitter
- MCM4 p.Ile698Val Uncertain significance Single submitter
Predictors split 64
The independent predictors disagree with each other — read with care.
-
MCM4 p.Arg314Trp
Uncertain significance
Multiple submitters
primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
- MCM4 p.Arg400Gln Uncertain significance Multiple submitters
-
MCM4 p.Arg422Trp
Uncertain significance
Multiple submitters
primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
- MCM4 p.Arg661Cys Uncertain significance Multiple submitters
-
MCM4 p.Arg701Trp
Uncertain significance
Multiple submitters
primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
- MCM4 p.Arg724Trp Uncertain significance Multiple submitters
- MCM4 p.Arg797Trp Uncertain significance Multiple submitters
- MCM4 p.Arg828Trp Uncertain significance Multiple submitters
- MCM4 p.Arg845Cys Uncertain significance Multiple submitters
- MCM4 p.Gln225Lys Uncertain significance Multiple submitters
-
MCM4 p.Glu656Lys
Uncertain significance
Multiple submitters
primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
-
MCM4 p.Ile283Thr
Uncertain significance
Multiple submitters
primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
- MCM4 p.Lys427Glu Uncertain significance Multiple submitters
- MCM4 p.Pro325Leu Uncertain significance Multiple submitters
- MCM4 p.Ser585Leu Uncertain significance Multiple submitters
- MCM4 p.Ser750Ala Uncertain significance Multiple submitters
- MCM4 p.Thr189Pro Uncertain significance Multiple submitters
-
MCM4 p.Tyr658Cys
Uncertain significance
Multiple submitters
primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
- MCM4 p.Tyr693Cys Uncertain significance Multiple submitters
-
MCM4 p.Val781Met
Uncertain significance
Multiple submitters
primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
-
MCM4 p.Ala615Gly
Uncertain significance
Single submitter
primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
- MCM4 p.Ala709Thr Uncertain significance Single submitter
- MCM4 p.Ala713Val Uncertain significance Single submitter
- MCM4 p.Ala843Gly Uncertain significance Single submitter
-
MCM4 p.Arg321Cys
Conflicting
Single submitter
primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
- MCM4 p.Arg330Cys Uncertain significance Single submitter
- MCM4 p.Arg404Ser Uncertain significance Single submitter
- MCM4 p.Arg422Gly Uncertain significance Single submitter
- MCM4 p.Arg497Ser Uncertain significance Single submitter
- MCM4 p.Arg777Trp Uncertain significance Single submitter
- MCM4 p.Arg861Cys Uncertain significance Single submitter
- MCM4 p.Arg861His Uncertain significance Single submitter
- MCM4 p.Gln383His Uncertain significance Single submitter
- MCM4 p.Glu277Lys Uncertain significance Single submitter
- MCM4 p.Glu359Gln Uncertain significance Single submitter
- MCM4 p.Glu474Gly Uncertain significance Single submitter
- MCM4 p.His368Gln Uncertain significance Single submitter
- MCM4 p.Ile393Met Uncertain significance Single submitter
- MCM4 p.Ile476Met Uncertain significance Single submitter
-
MCM4 p.Ile504Thr
Uncertain significance
Single submitter
primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
- MCM4 p.Leu558Val Uncertain significance Single submitter
- MCM4 p.Leu734Ile Uncertain significance Single submitter
- MCM4 p.Leu764Val Uncertain significance Single submitter
- MCM4 p.Leu818Pro Uncertain significance Single submitter
- MCM4 p.Leu862Phe Uncertain significance Single submitter
-
MCM4 p.Lys163Glu
Conflicting
Single submitter
primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
- MCM4 p.Lys409Asn Uncertain significance Single submitter
- MCM4 p.Met288Ile Uncertain significance Single submitter
- MCM4 p.Met351Val Uncertain significance Single submitter
- MCM4 p.Met361Ile Uncertain significance Single submitter
- MCM4 p.Phe263Leu Uncertain significance Single submitter
- MCM4 p.Phe824Ser Uncertain significance Single submitter
- MCM4 p.Pro103Ser Uncertain significance Single submitter
- MCM4 p.Pro176Arg Uncertain significance Single submitter
- MCM4 p.Pro176Leu Uncertain significance Single submitter
- MCM4 p.Pro24Leu Uncertain significance Single submitter
- MCM4 p.Pro398Ser Uncertain significance Single submitter
- MCM4 p.Ser228Phe Uncertain significance Single submitter
-
MCM4 p.Ser469Thr
Conflicting
Single submitter
primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
- MCM4 p.Ser794Cys Uncertain significance Single submitter
- MCM4 p.Thr788Met Uncertain significance Single submitter
- MCM4 p.Tyr223Cys Uncertain significance Single submitter
- MCM4 p.Val315Met Uncertain significance Single submitter
- MCM4 p.Val408Met Uncertain significance Single submitter
All MCM4 variants
Pathogenic 1
- c.71-2A>G Multiple submitters primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
Likely pathogenic 2
- p.Gln74Ter Single submitter primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
- p.Leu378fs Single submitter primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
Conflicting classifications of pathogenicity 18
- c.1175-7C>T Single submitter primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
- c.1800+8G>A Single submitter
- c.693+7A>G Single submitter primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
- p.Arg321Cys Single submitter primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency ⚠
- p.Arg610His Single submitter primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency ⚠
- p.Arg845His Single submitter ⚠
- p.Ile80= Single submitter primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
- p.Leu526= Single submitter primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
- p.Lys163Glu Single submitter primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency ⚠
- p.Lys688Arg Single submitter ⚠
- p.Phe576= Single submitter primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
- p.Pro297= Single submitter primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
- p.Pro33= Single submitter primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
- p.Ser228Cys Single submitter ⚠
- p.Ser326= Single submitter primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
- p.Ser469Thr Single submitter primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency ⚠
- p.Thr53= Single submitter primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
- p.Thr53Ala Single submitter primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency ⚠
Benign 15
- c.1174+20C>T Multiple submitters
- c.236-4A>G Multiple submitters primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
- c.*197T>C Multiple submitters primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
- c.*358T>C Multiple submitters primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
- c.*71C>A Multiple submitters primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
- p.Pro403= Multiple submitters primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
- p.Ser286= Multiple submitters primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
- c.236-5del Single submitter
- c.2366-8del Single submitter
- c.598-5dup Single submitter
- c.71-94C>T Single submitter
- c.*1256A>G Single submitter primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
- c.*148A>G Single submitter primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
- c.*214G>A Single submitter primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
- c.*819C>A Single submitter primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
Benign/Likely benign 10
- c.1053+4C>T Multiple submitters primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
- c.1435-7del Multiple submitters
- c.1800+20G>A Multiple submitters
- c.1929-6T>C Multiple submitters primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
- c.2365+4C>T Multiple submitters primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
- c.598-10T>C Multiple submitters
- c.833-14T>C Multiple submitters primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
- p.Lys688= Multiple submitters primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
- p.Thr553= Multiple submitters primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
- p.Val523= Multiple submitters primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
Likely benign 268
- c.1054-15_1054-12del Multiple submitters
- c.1434+20T>G Multiple submitters
- c.2136+20G>C Multiple submitters
- c.693+15T>C Multiple submitters
- c.71-16T>C Multiple submitters
- p.Arg248His Multiple submitters primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
- p.Arg724= Multiple submitters
- p.Arg739= Multiple submitters
- p.Asp652= Multiple submitters
- p.His744= Multiple submitters
- p.Leu118= Multiple submitters
- p.Thr560= Multiple submitters
- p.Tyr522= Multiple submitters
- p.Tyr714= Multiple submitters
- p.Tyr92= Multiple submitters
- c.1053+12C>T Single submitter
- c.1053+17G>A Single submitter
- c.1053+17G>C Single submitter
- c.1053+19C>G Single submitter
- c.1054-11C>G Single submitter
- c.1054-16_1054-15del Single submitter
- c.1054-17T>C Single submitter
- c.1054-18_1054-17del Single submitter
- c.1054-19T>C Single submitter
- c.1174+15T>C Single submitter
- c.1174+7G>A Single submitter
- c.1175-8G>A Single submitter
- c.1434+12T>C Single submitter
- c.1434+19C>G Single submitter
- c.1435-12_1435-11del Single submitter
- c.1435-14C>G Single submitter
- c.1435-17T>A Single submitter
- c.1800+10C>T Single submitter
- c.1800+14_1800+16del Single submitter
- c.1800+17A>G Single submitter
- c.1800+19C>T Single submitter
- c.1800+7C>T Single submitter
- c.1801-9C>T Single submitter
- c.1928+10C>G Single submitter
- c.1928+12_1928+13del Single submitter
- c.1928+19del Single submitter
- c.1929-14C>T Single submitter
- c.1929-16T>C Single submitter
- c.1929-19T>C Single submitter
- c.1929-7T>G Single submitter
- c.1929-9T>C Single submitter
- c.2136+11del Single submitter
- c.2136+14A>G Single submitter
- c.2136+9G>C Single submitter
- c.2137-5A>G Single submitter
- c.2137-8T>A Single submitter
- c.235+14G>A Single submitter
- c.235+14G>C Single submitter
- c.235+15A>G Single submitter
- c.235+17C>A Single submitter
- c.235+17C>G Single submitter
- c.235+20G>A Single submitter
- c.235+20G>C Single submitter
- c.235+7G>A Single submitter
- c.235+7G>T Single submitter
- c.236-16A>G Single submitter
- c.236-20T>C Single submitter
- c.2365+8A>G Single submitter
- c.2366-12T>C Single submitter
- c.2366-13C>A Single submitter
- c.2366-13C>T Single submitter
- c.2366-14T>C Single submitter
- c.2366-20T>A Single submitter
- c.2366-20T>C Single submitter
- c.2499+10T>G Single submitter
- c.2499+11A>G Single submitter
- c.2499+12T>C Single submitter
- c.2499+14T>C Single submitter
- c.2500-11C>T Single submitter
- c.2500-5C>T Single submitter
- c.2500-7C>T Single submitter
- c.399+11A>C Single submitter
- c.400-11T>C Single submitter
- c.400-15T>C Single submitter
- c.400-16A>G Single submitter
- c.400-19G>A Single submitter
- c.400-4G>A Single submitter
- c.400-6G>C Single submitter
- c.501+10A>C Single submitter
- c.501+11T>C Single submitter
- c.502-14C>T Single submitter
- c.502-20A>G Single submitter
- c.502-4A>G Single submitter
- c.502-6T>C Single submitter
- c.502-8A>T Single submitter
- c.502-9C>T Single submitter
- c.597+10_597+11insCA Single submitter
- c.597+12C>A Single submitter
- c.597+13del Single submitter
- c.597+16T>C Single submitter
- c.598-11T>C Single submitter
- c.598-13T>A Single submitter
- c.598-15A>G Single submitter
- c.598-19del Single submitter
- c.598-20T>A Single submitter
- c.598-8T>C Single submitter
- c.598-9_598-6del Single submitter
- c.693+17G>A Single submitter
- c.693+19C>T Single submitter
- c.694-13T>C Single submitter
- c.694-14A>G Single submitter
- c.694-16A>G Single submitter
- c.694-19T>C Single submitter
- c.70+14G>A Single submitter
- c.71-13TG[2] Single submitter
- c.71-19C>T Single submitter
- c.71-6C>T Single submitter
- c.71-8G>C Single submitter
- c.832+14C>T Single submitter
- c.832+16T>C Single submitter
- c.833-15C>T Single submitter
- c.833-19C>T Single submitter
- c.-65A>T Single submitter primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
- c.*871G>A Single submitter primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
- p.Ala121= Single submitter
- p.Ala160= Single submitter
- p.Ala240= Single submitter
- p.Ala265= Single submitter
- p.Ala29= Single submitter
- p.Ala426= Single submitter
- p.Ala436= Single submitter
- p.Ala540= Single submitter
- p.Ala545= Single submitter
- p.Ala599= Single submitter
- p.Ala668= Single submitter
- p.Ala677= Single submitter
- p.Ala685= Single submitter
- p.Ala694= Single submitter
- p.Ala729= Single submitter
- p.Ala792= Single submitter
- p.Ala804= Single submitter
- p.Ala834= Single submitter
- p.Ala848= Single submitter
- p.Arg104= Single submitter
- p.Arg115= Single submitter
- p.Arg319= Single submitter
- p.Arg445= Single submitter
- p.Arg454= Single submitter
- p.Arg489= Single submitter
- p.Arg610= Single submitter
- p.Arg718= Single submitter
- p.Arg777= Single submitter
- p.Asn183= Single submitter
- p.Asn201= Single submitter
- p.Asn209= Single submitter
- p.Asn264= Single submitter
- p.Asn273= Single submitter
- p.Asn568= Single submitter
- p.Asn751= Single submitter
- p.Asp128= Single submitter
- p.Asp132= Single submitter
- p.Asp175= Single submitter
- p.Asp219= Single submitter
- p.Asp238= Single submitter
- p.Asp251= Single submitter
- p.Asp360= Single submitter
- p.Asp380= Single submitter
- p.Asp417= Single submitter
- p.Asp574= Single submitter
- p.Asp655= Single submitter
- p.Cys328= Single submitter
- p.Gln195= Single submitter
- p.Gln294= Single submitter
- p.Gln305= Single submitter
- p.Gln676= Single submitter
- p.Gln74= Single submitter
- p.Glu451= Single submitter
- p.Glu47= Single submitter
- p.Glu589= Single submitter
- p.Gly124= Single submitter
- p.Gly204= Single submitter
- p.Gly329= Single submitter
- p.Gly486= Single submitter
- p.Gly510= Single submitter
- p.Gly535= Single submitter
- p.Gly569= Single submitter
- p.His335= Single submitter
- p.His473= Single submitter
- p.His588= Single submitter
- p.Ile188= Single submitter
- p.Ile203= Single submitter
- p.Ile352= Single submitter
- p.Ile504= Single submitter
- p.Ile573= Single submitter
- p.Ile647= Single submitter
- p.Ile711= Single submitter
- p.Ile738= Single submitter
- p.Ile780= Single submitter
- p.Leu129= Single submitter
- p.Leu177= Single submitter
- p.Leu222= Single submitter
- p.Leu345= Single submitter
- p.Leu372= Single submitter
- p.Leu378= Single submitter
- p.Leu429= Single submitter
- p.Leu48= Single submitter
- p.Leu482= Single submitter
- p.Leu520= Single submitter
- p.Leu556= Single submitter
- p.Leu565= Single submitter
- p.Leu607= Single submitter
- p.Leu640= Single submitter
- p.Leu649= Single submitter
- p.Leu650Met Single submitter
- p.Leu669= Single submitter
- p.Leu710= Single submitter
- p.Leu734= Single submitter
- p.Leu786= Single submitter
- p.Leu805= Single submitter
- p.Leu818= Single submitter
- p.Leu853= Single submitter
- p.Lys123= Single submitter
- p.Lys269= Single submitter
- p.Lys349= Single submitter
- p.Lys427= Single submitter
- p.Lys455= Single submitter
- p.Lys628= Single submitter
- p.Lys719= Single submitter
- p.Phe166= Single submitter
- p.Phe245= Single submitter
- p.Phe304= Single submitter
- p.Phe84= Single submitter
- p.Pro111= Single submitter
- p.Pro191Ser Single submitter
- p.Pro20= Single submitter
- p.Pro230= Single submitter
- p.Pro262= Single submitter
- p.Pro358= Single submitter
- p.Pro456= Single submitter
- p.Pro528= Single submitter
- p.Pro653= Single submitter
- p.Pro700= Single submitter
- p.Ser131= Single submitter
- p.Ser228= Single submitter
- p.Ser252= Single submitter
- p.Ser585= Single submitter
- p.Ser612= Single submitter
- p.Ser673= Single submitter
- p.Ser728= Single submitter
- p.Ser736= Single submitter
- p.Ser811= Single submitter
- p.Ser87= Single submitter
- p.Thr312= Single submitter
- p.Thr313Ala Single submitter
- p.Thr43= Single submitter
- p.Thr45= Single submitter
- p.Thr533= Single submitter
- p.Thr583= Single submitter
- p.Thr793= Single submitter
- p.Thr859= Single submitter
- p.Tyr546= Single submitter
- p.Tyr690= Single submitter
- p.Tyr693= Single submitter
- p.Val184= Single submitter
- p.Val233= Single submitter
- p.Val289= Single submitter
- p.Val327= Single submitter
- p.Val388= Single submitter
- p.Val564= Single submitter
- p.Val667= Single submitter
- p.Val686= Single submitter
- p.Val747= Single submitter
- p.Val860= Single submitter
Uncertain significance 371
Showing the top 300 by review status; the full set is in the sitemap.
- c.-74C>T Multiple submitters primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
- c.*56G>A Multiple submitters primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
- p.Ala141Gly Multiple submitters primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency ⚠
- p.Ala436Thr Multiple submitters ⚠
- p.Ala668Thr Multiple submitters ⚠
- p.Ala685Val Multiple submitters ⚠
- p.Ala694Thr Multiple submitters ⚠
- p.Ala713Thr Multiple submitters ⚠
- p.Arg224Lys Multiple submitters ⚠
- p.Arg314Trp Multiple submitters primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency ⚠
- p.Arg319Cys Multiple submitters
- p.Arg319His Multiple submitters ⚠
- p.Arg343Cys Multiple submitters MCM4-related disorder
- p.Arg343His Multiple submitters primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
- p.Arg37His Multiple submitters ⚠
- p.Arg400Gln Multiple submitters ⚠
- p.Arg422Trp Multiple submitters primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency ⚠
- p.Arg445Cys Multiple submitters
- p.Arg454Lys Multiple submitters ⚠
- p.Arg554Lys Multiple submitters primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency ⚠
- p.Arg610Cys Multiple submitters ⚠
- p.Arg661Cys Multiple submitters ⚠
- p.Arg661His Multiple submitters ⚠
- p.Arg701Gln Multiple submitters primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency ⚠
- p.Arg701Trp Multiple submitters primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency ⚠
- p.Arg724Trp Multiple submitters ⚠
- p.Arg748Lys Multiple submitters
- p.Arg766Trp Multiple submitters primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency ⚠
- p.Arg797Trp Multiple submitters ⚠
- p.Arg828Trp Multiple submitters ⚠
- p.Arg845Cys Multiple submitters ⚠
- p.Asn242Ser Multiple submitters ⚠
- p.Asn264Ser Multiple submitters ⚠
- p.Asn402Ser Multiple submitters microcephaly ⚠
- p.Asp278Gly Multiple submitters ⚠
- p.Asp58His Multiple submitters ⚠
- p.Asp655Asn Multiple submitters ⚠
- p.Asp85Tyr Multiple submitters primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency ⚠
- p.Gln225Lys Multiple submitters ⚠
- p.Gln231= Multiple submitters primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
- p.Gln300Arg Multiple submitters primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency ⚠
- p.Gln438Lys Multiple submitters ⚠
- p.Gln821Ter Multiple submitters
- p.Gln822Pro Multiple submitters ⚠
- p.Glu181Lys Multiple submitters ⚠
- p.Glu182del Multiple submitters
- p.Glu460Lys Multiple submitters ⚠
- p.Glu656Lys Multiple submitters primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency ⚠
- p.Gly109Asp Multiple submitters ⚠
- p.Gly133Arg Multiple submitters ⚠
- p.Gly287Ser Multiple submitters primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency ⚠
- p.Gly329Arg Multiple submitters ⚠
- p.Gly56Glu Multiple submitters ⚠
- p.His588Tyr Multiple submitters ⚠
- p.Ile186Val Multiple submitters ⚠
- p.Ile203Thr Multiple submitters primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency ⚠
- p.Ile283Thr Multiple submitters primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency ⚠
- p.Ile393Val Multiple submitters ⚠
- p.Ile506Phe Multiple submitters ⚠
- p.Ile780Leu Multiple submitters ⚠
- p.Ile783Val Multiple submitters ⚠
- p.Leu197Phe Multiple submitters primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
- p.Lys427Glu Multiple submitters ⚠
- p.Lys499Arg Multiple submitters ⚠
- p.Lys627Glu Multiple submitters ⚠
- p.Met271Val Multiple submitters primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency ⚠
- p.Met684Thr Multiple submitters ⚠
- p.Phe246del Multiple submitters primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
- p.Pro176Thr Multiple submitters ⚠
- p.Pro325Leu Multiple submitters ⚠
- p.Pro33Leu Multiple submitters ⚠
- p.Pro358Leu Multiple submitters ⚠
- p.Pro362Ser Multiple submitters ⚠
- p.Pro816Arg Multiple submitters ⚠
- p.Pro95Ala Multiple submitters ⚠
- p.Ser585Leu Multiple submitters ⚠
- p.Ser750Ala Multiple submitters ⚠
- p.Thr189Pro Multiple submitters ⚠
- p.Thr366Ile Multiple submitters primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency ⚠
- p.Thr369fs Multiple submitters
- p.Thr43Ile Multiple submitters ⚠
- p.Thr533Met Multiple submitters ⚠
- p.Thr595Ile Multiple submitters primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency ⚠
- p.Thr778Ser Multiple submitters ⚠
- p.Tyr658Cys Multiple submitters primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency ⚠
- p.Tyr671Cys Multiple submitters primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency ⚠
- p.Tyr693Cys Multiple submitters ⚠
- p.Val202Ile Multiple submitters primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency ⚠
- p.Val57Met Multiple submitters ⚠
- p.Val67Met Multiple submitters primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency ⚠
- p.Val753Leu Multiple submitters primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency ⚠
- p.Val781Met Multiple submitters primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency ⚠
- c.1053+1G>T Single submitter
- c.1053+3G>A Single submitter
- c.1053+5G>A Single submitter
- c.1174+5G>A Single submitter
- c.1175-20T>G Single submitter
- c.1175-3C>T Single submitter
- c.1800+3G>A Single submitter
- c.1800+5G>A Single submitter
- c.1800+5G>T Single submitter
- c.1801-12_1801-11del Single submitter
- c.235+4C>G Single submitter primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
- c.235+4C>T Single submitter
- c.235+6T>A Single submitter
- c.2365+14A>G Single submitter
- c.2365+1G>A Single submitter
- c.399+5G>A Single submitter
- c.502-8A>G Single submitter primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
- c.832+1G>A Single submitter
- c.832+2T>C Single submitter
- c.-68G>T Single submitter primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
- c.-77G>A Single submitter primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
- c.*109T>C Single submitter primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
- c.*1134A>C Single submitter primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
- c.*1140G>A Single submitter primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
- c.*1234T>C Single submitter primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
- c.*125A>G Single submitter primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
- c.*1266G>A Single submitter primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
- c.*213C>T Single submitter primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
- c.*255A>G Single submitter primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
- c.*315G>A Single submitter primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
- c.*357A>C Single submitter primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
- c.*37C>T Single submitter primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
- c.*387T>C Single submitter primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
- c.*438A>G Single submitter primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
- c.*443G>A Single submitter primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
- c.*453A>G Single submitter primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
- c.*537T>C Single submitter primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
- c.*842G>A Single submitter primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
- c.*850T>A Single submitter primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
- c.*877G>A Single submitter primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
- c.*882G>A Single submitter primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
- c.*955A>G Single submitter primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
- p.Ala136dup Single submitter
- p.Ala265Thr Single submitter ⚠
- p.Ala310Thr Single submitter ⚠
- p.Ala338Thr Single submitter ⚠
- p.Ala426Val Single submitter ⚠
- p.Ala436Val Single submitter ⚠
- p.Ala562Thr Single submitter ⚠
- p.Ala609Gly Single submitter ⚠
- p.Ala615Gly Single submitter primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency ⚠
- p.Ala616Val Single submitter ⚠
- p.Ala63Ser Single submitter primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency ⚠
- p.Ala64Thr Single submitter ⚠
- p.Ala657Val Single submitter ⚠
- p.Ala706Val Single submitter ⚠
- p.Ala709Thr Single submitter ⚠
- p.Ala713Val Single submitter ⚠
- p.Ala729Ser Single submitter
- p.Ala761Thr Single submitter ⚠
- p.Ala79Pro Single submitter ⚠
- p.Ala843Gly Single submitter ⚠
- p.Ala843Val Single submitter ⚠
- p.Ala846Thr Single submitter ⚠
- p.Ala846Val Single submitter ⚠
- p.Ala848Gly Single submitter ⚠
- p.Arg104Lys Single submitter primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency ⚠
- p.Arg168Lys Single submitter ⚠
- p.Arg172His Single submitter ⚠
- p.Arg248Cys Single submitter ⚠
- p.Arg272Lys Single submitter ⚠
- p.Arg30Lys Single submitter ⚠
- p.Arg314Gln Single submitter ⚠
- p.Arg330Cys Single submitter ⚠
- p.Arg330His Single submitter ⚠
- p.Arg37Leu Single submitter ⚠
- p.Arg395Gln Single submitter
- p.Arg404Ser Single submitter ⚠
- p.Arg422Gln Single submitter ⚠
- p.Arg422Gly Single submitter ⚠
- p.Arg428Cys Single submitter
- p.Arg428His Single submitter ⚠
- p.Arg445His Single submitter ⚠
- p.Arg497Ser Single submitter ⚠
- p.Arg554Gly Single submitter ⚠
- p.Arg643Thr Single submitter ⚠
- p.Arg724Gln Single submitter ⚠
- p.Arg739Cys Single submitter ⚠
- p.Arg739His Single submitter ⚠
- p.Arg763His Single submitter ⚠
- p.Arg766Gln Single submitter ⚠
- p.Arg766Gly Single submitter
- p.Arg777Gln Single submitter ⚠
- p.Arg777Trp Single submitter ⚠
- p.Arg795His Single submitter
- p.Arg828Gln Single submitter ⚠
- p.Arg861Cys Single submitter ⚠
- p.Arg861His Single submitter ⚠
- p.Arg98Gln Single submitter ⚠
- p.Arg98Trp Single submitter ⚠
- p.Asn342Lys Single submitter ⚠
- p.Asn608Asp Single submitter ⚠
- p.Asn751fs Single submitter
- p.Asp247Tyr Single submitter ⚠
- p.Asp251Gly Single submitter ⚠
- p.Asp360Asn Single submitter ⚠
- p.Asp511Asn Single submitter ⚠
- p.Asp574Asn Single submitter ⚠
- p.Asp58Gly Single submitter ⚠
- p.Asp66His Single submitter ⚠
- p.Asp689Asn Single submitter ⚠
- p.Asp782Val Single submitter ⚠
- p.Gln126Arg Single submitter ⚠
- p.Gln144Arg Single submitter ⚠
- p.Gln148Glu Single submitter ⚠
- p.Gln167Lys Single submitter ⚠
- p.Gln307Glu Single submitter ⚠
- p.Gln383His Single submitter ⚠
- p.Gln438Arg Single submitter ⚠
- p.Gln635Arg Single submitter ⚠
- p.Gln708Ter Single submitter
- p.Gln74Glu Single submitter ⚠
- p.Gln821Arg Single submitter ⚠
- p.Gln822Ter Single submitter
- p.Glu277Ala Single submitter ⚠
- p.Glu277Lys Single submitter ⚠
- p.Glu316Asp Single submitter ⚠
- p.Glu359Gln Single submitter ⚠
- p.Glu359Lys Single submitter ⚠
- p.Glu434Gly Single submitter ⚠
- p.Glu443Gly Single submitter ⚠
- p.Glu472Gln Single submitter ⚠
- p.Glu472Lys Single submitter
- p.Glu474Gly Single submitter ⚠
- p.Glu674Lys Single submitter primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency ⚠
- p.Glu735Ala Single submitter ⚠
- p.Glu735Gln Single submitter ⚠
- p.Glu799Ala Single submitter ⚠
- p.Gly147Asp Single submitter primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency ⚠
- p.Gly198Arg Single submitter ⚠
- p.Gly198Glu Single submitter ⚠
- p.Gly320Ser Single submitter
- p.Gly364Arg Single submitter ⚠
- p.Gly569Cys Single submitter
- p.His332Tyr Single submitter ⚠
- p.His341Asn Single submitter ⚠
- p.His368Gln Single submitter ⚠
- p.His368Pro Single submitter primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency ⚠
- p.His420Arg Single submitter ⚠
- p.His473Gln Single submitter primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
- p.His664Arg Single submitter ⚠
- p.His695Arg Single submitter ⚠
- p.His765Gln Single submitter ⚠
- p.His76Arg Single submitter ⚠
- p.Ile139Thr Single submitter ⚠
- p.Ile139Val Single submitter ⚠
- p.Ile174Thr Single submitter ⚠
- p.Ile186Thr Single submitter ⚠
- p.Ile371Thr Single submitter ⚠
- p.Ile393Met Single submitter ⚠
- p.Ile416Thr Single submitter ⚠
- p.Ile476Met Single submitter ⚠
- p.Ile504Thr Single submitter primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency ⚠
- p.Ile647Thr Single submitter ⚠
- p.Ile691Thr Single submitter
- p.Ile698Val Single submitter ⚠
- p.Ile785fs Single submitter primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
- p.Ile833Leu Single submitter ⚠
- p.Ile833Val Single submitter ⚠
- p.Leu170fs Single submitter
- p.Leu274Val Single submitter
- p.Leu295Val Single submitter ⚠
- p.Leu339Phe Single submitter ⚠
- p.Leu432Arg Single submitter ⚠
- p.Leu432Val Single submitter ⚠
- p.Leu440His Single submitter ⚠
- p.Leu448Phe Single submitter ⚠
- p.Leu558Val Single submitter ⚠
- p.Leu640Ser Single submitter ⚠
- p.Leu646Val Single submitter
- p.Leu650Thr Single submitter
- p.Leu681His Single submitter ⚠
- p.Leu710His Single submitter ⚠
- p.Leu734Ile Single submitter ⚠
- p.Leu764Val Single submitter ⚠
- p.Leu786Phe Single submitter ⚠
- p.Leu810Phe Single submitter ⚠
- p.Leu818Pro Single submitter ⚠
- p.Leu844Pro Single submitter primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency ⚠
- p.Leu862Phe Single submitter ⚠
- p.Lys220Glu Single submitter ⚠
- p.Lys269Asn Single submitter ⚠
- p.Lys409Asn Single submitter ⚠
- p.Lys409Met Single submitter
- p.Lys427Thr Single submitter ⚠
- p.Lys600= Single submitter
- p.Lys746Glu Single submitter ⚠
- p.Lys806Arg Single submitter ⚠
- p.Lys806Glu Single submitter ⚠
- p.Lys819Gln Single submitter ⚠
- p.Met194Val Single submitter ⚠
- p.Met239Val Single submitter primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency ⚠
- p.Met288Ile Single submitter ⚠
- p.Met337Val Single submitter ⚠
- p.Met351Leu Single submitter ⚠
- p.Met351Val Single submitter ⚠
- p.Met361Arg Single submitter ⚠
- p.Met361Ile Single submitter ⚠