CASP10 — 619 ClinVar variants

All ClinVar germline CASP10 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 263 flagged for review →

4 Pathogenic · 1 Likely pathogenic · 17 Conflicting · 61 Benign · 7 Benign/Likely benign · 147 Likely benign · 382 Uncertain significance

Full CASP10 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 263

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 vs ClinVar 1

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

CASP10 p.Ala414Val Pathogenic No assertion criteria
non-Hodgkin lymphoma

Predictors agree, ClinVar conflicts 6

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

CASP10 p.Ala441Thr Conflicting Single submitter
autoimmune lymphoproliferative syndrome type 1
CASP10 p.Gly241Ser Conflicting Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.His7Arg Conflicting Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Ile406Leu Conflicting Single submitter
hypomyelinating leukodystrophy 5
CASP10 p.Lys17Glu Conflicting Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Ser293Arg Conflicting Single submitter
autoimmune lymphoproliferative syndrome type 2A

Predictors lean, ClinVar uncertain 159

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 159

CASP10 p.Ala237Glu Uncertain significance Multiple submitters
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Ala248Val Uncertain significance Multiple submitters
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Ala259Thr Uncertain significance Multiple submitters
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Ala259Val Uncertain significance Multiple submitters
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Ala400Thr Uncertain significance Multiple submitters
CASP10-related disorder
CASP10 p.Ala67Ser Uncertain significance Multiple submitters
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Arg104Gln Uncertain significance Multiple submitters
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Arg375Gln Uncertain significance Multiple submitters
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Arg450Gln Uncertain significance Multiple submitters
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Asn342Ser Uncertain significance Multiple submitters
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Asp172Glu Uncertain significance Multiple submitters
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Cys169Trp Uncertain significance Multiple submitters
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Cys16Tyr Uncertain significance Multiple submitters
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Cys354Arg Uncertain significance Multiple submitters
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Cys463Ser Uncertain significance Multiple submitters
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Gln399His Uncertain significance Multiple submitters
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Gln427Arg Uncertain significance Multiple submitters
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Gln4Arg Uncertain significance Multiple submitters
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Glu121Lys Uncertain significance Multiple submitters
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Glu129Asp Uncertain significance Multiple submitters
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Glu206Lys Uncertain significance Multiple submitters
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Gly255Arg Uncertain significance Multiple submitters
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Gly403Arg Uncertain significance Multiple submitters
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Gly403Ser Uncertain significance Multiple submitters
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Ile44Leu Uncertain significance Multiple submitters
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Phe294Val Uncertain significance Multiple submitters
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Pro200Ser Uncertain significance Multiple submitters
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Pro228Leu Uncertain significance Multiple submitters
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Pro228Ser Uncertain significance Multiple submitters
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Pro48Ser Uncertain significance Multiple submitters
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Ser141Leu Uncertain significance Multiple submitters
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Ser207Leu Uncertain significance Multiple submitters
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Thr168Ala Uncertain significance Multiple submitters
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Thr198Lys Uncertain significance Multiple submitters
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Thr222Ala Uncertain significance Multiple submitters
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Thr245Pro Uncertain significance Multiple submitters
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Thr424Ile Uncertain significance Multiple submitters
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Thr442Ile Uncertain significance Multiple submitters
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Tyr208Cys Uncertain significance Multiple submitters
CASP10-related disorder
CASP10 p.Val112Ala Uncertain significance Multiple submitters
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Ala154Glu Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Ala248Ser Uncertain significance Single submitter
CASP10 p.Ala273Thr Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Ala307Val Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Ala344Val Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Ala390Val Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Ala400Pro Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Ala400Val Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Ala507Val Uncertain significance Single submitter
CASP10 p.Arg183Ile Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Arg21Pro Uncertain significance Single submitter
CASP10 p.Arg254Gly Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Arg450Trp Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Arg511Gln Uncertain significance Single submitter
CASP10 p.Arg87Gln Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Asn234Ile Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Asn262Lys Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Asn290Tyr Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Asn49Ser Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Asp127Gly Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Asp133Glu Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Asp202Asn Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Asp202Gly Uncertain significance Single submitter
CASP10 p.Asp219Glu Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Asp219Gly Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Asp299His Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Asp347Asn Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Asp428Gly Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Asp428His Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Cys169Phe Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Cys169Tyr Uncertain significance Single submitter
CASP10 p.Cys341Phe Uncertain significance Single submitter
CASP10 p.Cys341Trp Uncertain significance Single submitter
CASP10 p.Cys341Tyr Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Cys386Tyr Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Gln195Arg Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Gln209Lys Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Gln229Leu Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Gln301Glu Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Gln339Glu Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Gln93Pro Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Glu101Asp Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Glu204Gln Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Glu333Lys Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Gly210Ala Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Gly241Arg Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Gly247Val Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Gly255Glu Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Gly284Ser Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Gly302Ala Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Gly302Glu Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Gly32Arg Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Gly403Asp Uncertain significance Single submitter
CASP10 p.Gly5Ser Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.His282Asn Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.His292Gln Uncertain significance Single submitter
CASP10 p.His292Leu Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.His345Gln Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.His358Arg Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.His380Arg Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.His451Arg Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Ile194Met Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Ile196Met Uncertain significance Single submitter
CASP10 p.Ile26Val Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Ile374Asn Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Ile374Leu Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Ile44Thr Uncertain significance Single submitter
CASP10-related disorder
CASP10 p.Ile44Val Uncertain significance Single submitter
CASP10 p.Ile459Ser Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Ile86Met Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Leu105Gln Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Leu105Pro Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Leu114Pro Uncertain significance Single submitter
CASP10 p.Leu122Pro Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Leu156Pro Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Leu214Arg Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Leu227Ser Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Leu251Pro Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Leu264Pro Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Leu264Val Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Leu83Pro Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Leu95Pro Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Lys144Gln Uncertain significance Single submitter
CASP10 p.Lys203Glu Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Lys468Glu Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Lys99Arg Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Met378Thr Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Phe20Leu Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Phe476Cys Uncertain significance Single submitter
gastric neoplasm
CASP10 p.Pro199Leu Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Pro249Ser Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Pro373Ser Uncertain significance Single submitter
CASP10 p.Pro423Ser Uncertain significance Single submitter
CASP10 p.Pro76Thr Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Ser311Arg Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Ser311Asn Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Ser409Cys Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Ser448Phe Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Ser448Thr Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Ser72Thr Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Thr222Ile Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Thr263Ala Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Thr263Ser Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Thr268Asn Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Thr268Pro Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Thr270Ala Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Thr270Lys Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Val177Ile Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Val178Leu Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Val18Met Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A

Predictors split 97

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

CASP10 p.Arg109Pro Uncertain significance Multiple submitters
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Arg21His Uncertain significance Multiple submitters
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Arg280Trp Uncertain significance Multiple submitters
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Arg87Trp Uncertain significance Multiple submitters
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Glu146Ala Uncertain significance Multiple submitters
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Glu308Asp Uncertain significance Multiple submitters
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Glu433Lys Uncertain significance Multiple submitters
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Gly160Ser Uncertain significance Multiple submitters
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Gly318Glu Uncertain significance Multiple submitters
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Gly45Arg Uncertain significance Multiple submitters
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.His304Tyr Uncertain significance Multiple submitters
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.His345Tyr Uncertain significance Multiple submitters
CASP10 p.Ile185Arg Uncertain significance Multiple submitters
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Ile185Met Uncertain significance Multiple submitters
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Ile185Val Uncertain significance Multiple submitters
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Leu83Phe Uncertain significance Multiple submitters
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Leu83Val Uncertain significance Multiple submitters
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Met147Thr Uncertain significance Multiple submitters
autoimmune lymphoproliferative syndrome type 1
CASP10 p.Pro387Ala Uncertain significance Multiple submitters
CASP10-related disorder
CASP10 p.Ser266Phe Uncertain significance Multiple submitters
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Ser55Pro Uncertain significance Multiple submitters
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Tyr446Cys Benign Multiple submitters
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Ala307Asp Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Ala383Asp Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Arg111Thr Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Arg21Cys Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Arg280Gln Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Arg280Pro Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Asn30Ile Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Asn325Ser Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Asp140Ala Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Asp163Tyr Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Asp165Gly Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Asp28His Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Asp35Asn Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Cys174Trp Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Gln195His Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Gln460Arg Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Gln88His Uncertain significance Single submitter
CASP10 p.Glu103Gly Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Glu129Lys Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Glu157Asp Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Glu164Ala Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Glu37Ala Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Glu413Gly Uncertain significance Single submitter
CASP10 p.Glu413Lys Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Glu53Gly Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Glu74Gly Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Gly160Val Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Gly348Arg Uncertain significance Single submitter
CASP10 p.Gly439Val Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Gly45Glu Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Ile126Val Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Ile162Met Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Ile185Thr Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Ile372Met Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Ile398Val Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Ile430Phe Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Leu138Pro Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Leu150Ile Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Leu150Val Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Leu156Val Uncertain significance Single submitter
CASP10-related disorder
CASP10 p.Leu167Val Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Leu173Phe Uncertain significance Single submitter
CASP10 p.Leu285Phe Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Leu371Val Uncertain significance Single submitter
CASP10 p.Leu46Val Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Leu70Val Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Lys132Asn Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Lys139Thr Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Lys305Glu Conflicting Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Lys40Arg Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Met147Ile Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Pro179Leu Uncertain significance Single submitter
CASP10 p.Pro408Leu Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Ser10Cys Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Ser128Leu Uncertain significance Single submitter
CASP10 p.Ser19Arg Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Ser207Trp Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Ser216Cys Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Ser216Phe Uncertain significance Single submitter
CASP10 p.Ser239Cys Likely benign Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Ser253Phe Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Ser296Phe Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Ser367Leu Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Ser409Phe Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Ser409Tyr Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Ser429Gly Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Ser461Cys Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Thr176Pro Uncertain significance Single submitter
CASP10 p.Thr328Met Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Tyr365Ser Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Tyr84Cys Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Tyr84His Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Val177Gly Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2A
CASP10 p.Val177Leu Uncertain significance Single submitter
CASP10 p.Val443Leu Uncertain significance Single submitter

All CASP10 variants

Pathogenic 4

p.Gln502fs Single submitter autoimmune lymphoproliferative syndrome type 2A
p.Ala414Val No assertion criteria non-Hodgkin lymphoma ⚠
p.Gln257Ter No assertion criteria gastric cancer
p.Gly348fs No assertion criteria non-Hodgkin lymphoma

Likely pathogenic 1

p.Val112fs Single submitter Susceptibility to severe COVID-19

Conflicting classifications of pathogenicity 17

c.442-14T>G Single submitter autoimmune lymphoproliferative syndrome type 2A
c.-8+5G>A Single submitter autoimmune lymphoproliferative syndrome type 1
p.Ala441Thr Single submitter autoimmune lymphoproliferative syndrome type 1 ⚠
p.Arg489Gln Single submitter autoimmune lymphoproliferative syndrome type 2A
p.Asn130fs Single submitter autoimmune lymphoproliferative syndrome type 2A
p.Asp485Asn Single submitter autoimmune lymphoproliferative syndrome type 2A
p.Cys401fs Single submitter autoimmune lymphoproliferative syndrome type 2A
p.Gly241Ser Single submitter autoimmune lymphoproliferative syndrome type 2A ⚠
p.His7Arg Single submitter autoimmune lymphoproliferative syndrome type 2A ⚠
p.Ile27= Single submitter autoimmune lymphoproliferative syndrome type 2A
p.Ile406Leu Single submitter hypomyelinating leukodystrophy 5 ⚠
p.Leu417= Single submitter autoimmune lymphoproliferative syndrome type 2A
p.Lys17Glu Single submitter autoimmune lymphoproliferative syndrome type 2A ⚠
p.Lys305Glu Single submitter autoimmune lymphoproliferative syndrome type 2A ⚠
p.Pro501Leu Single submitter autoimmune lymphoproliferative syndrome type 2A
p.Ser293Arg Single submitter autoimmune lymphoproliferative syndrome type 2A ⚠
p.Val178= Single submitter autoimmune lymphoproliferative syndrome type 2A

Benign 61

c.347+9G>T Multiple submitters autoimmune lymphoproliferative syndrome type 2A
c.441+95A>G Multiple submitters
c.577+263A>G Multiple submitters
c.684+149C>T Multiple submitters
c.685-20C>T Multiple submitters autoimmune lymphoproliferative syndrome type 2A
c.722-16G>T Multiple submitters autoimmune lymphoproliferative syndrome type 2A
c.813+39A>T Multiple submitters
c.923-12G>T Multiple submitters autoimmune lymphoproliferative syndrome type 2A
c.923-3C>T Multiple submitters autoimmune lymphoproliferative syndrome type 2A
c.-206C>T Multiple submitters autoimmune lymphoproliferative syndrome type 2A
c.-8+92C>T Multiple submitters
c.*1043C>T Multiple submitters autoimmune lymphoproliferative syndrome type 2A
c.*1520C>T Multiple submitters autoimmune lymphoproliferative syndrome type 2A
c.*277G>A Multiple submitters autoimmune lymphoproliferative syndrome type 2A
c.*285G>A Multiple submitters autoimmune lymphoproliferative syndrome type 2A
c.*815C>T Multiple submitters autoimmune lymphoproliferative syndrome type 2A
p.Leu522Ile Multiple submitters autoimmune lymphoproliferative syndrome type 2A
p.Ser59= Multiple submitters autoimmune lymphoproliferative syndrome type 2A
p.Thr222= Multiple submitters autoimmune lymphoproliferative syndrome type 2A
p.Tyr446Cys Multiple submitters autoimmune lymphoproliferative syndrome type 2A ⚠
p.Val410Ile Multiple submitters autoimmune lymphoproliferative syndrome type 2A
c.1415+16T>C Single submitter autoimmune lymphoproliferative syndrome type 2A
c.1415+18del Single submitter autoimmune lymphoproliferative syndrome type 2A
c.1415+18dup Single submitter autoimmune lymphoproliferative syndrome type 2A
c.1415+243A>G Single submitter
c.1416-261T>C Single submitter
c.1416-305A>G Single submitter
c.348-139C>A Single submitter
c.348-16dup Single submitter autoimmune lymphoproliferative syndrome type 2A
c.441+221A>C Single submitter
c.441+232C>T Single submitter
c.441+95A>C Single submitter
c.578-298_578-297dup Single submitter
c.813+139G>A Single submitter
c.813+22C>T Single submitter
c.814-224C>T Single submitter
c.922+243C>T Single submitter
c.-360T>C Single submitter autoimmune lymphoproliferative syndrome type 2A
c.-7-341G>A Single submitter
c.*1471G>A Single submitter autoimmune lymphoproliferative syndrome type 2A
c.*1593T>C Single submitter autoimmune lymphoproliferative syndrome type 2A
c.*1688A>G Single submitter autoimmune lymphoproliferative syndrome type 2A
c.*1793C>A Single submitter autoimmune lymphoproliferative syndrome type 2A
c.*1914C>T Single submitter autoimmune lymphoproliferative syndrome type 2A
c.*1920G>C Single submitter autoimmune lymphoproliferative syndrome type 2A
c.*1955G>A Single submitter autoimmune lymphoproliferative syndrome type 2A
c.*2289A>C Single submitter autoimmune lymphoproliferative syndrome type 2A
c.*230G>A Single submitter autoimmune lymphoproliferative syndrome type 2A
c.*2618G>A Single submitter autoimmune lymphoproliferative syndrome type 2A
c.*2689A>G Single submitter autoimmune lymphoproliferative syndrome type 2A
c.*2757A>G Single submitter autoimmune lymphoproliferative syndrome type 2A
c.*2831C>T Single submitter autoimmune lymphoproliferative syndrome type 2A
c.*3019C>T Single submitter autoimmune lymphoproliferative syndrome type 2A
c.*3071G>A Single submitter autoimmune lymphoproliferative syndrome type 2A
c.*3137G>C Single submitter autoimmune lymphoproliferative syndrome type 2A
c.*3513A>G Single submitter autoimmune lymphoproliferative syndrome type 2A
c.*367G>C Single submitter autoimmune lymphoproliferative syndrome type 2A
c.*665G>A Single submitter autoimmune lymphoproliferative syndrome type 2A
c.*739T>C Single submitter autoimmune lymphoproliferative syndrome type 2A
c.*77T>G Single submitter autoimmune lymphoproliferative syndrome type 2A
c.*846A>G Single submitter autoimmune lymphoproliferative syndrome type 2A

Benign/Likely benign 7

c.1415+18T>A Multiple submitters autoimmune lymphoproliferative syndrome type 2A
c.1415+8C>G Multiple submitters autoimmune lymphoproliferative syndrome type 2A
c.347+8C>T Multiple submitters autoimmune lymphoproliferative syndrome type 2A
c.923-13T>G Multiple submitters autoimmune lymphoproliferative syndrome type 2A
p.Ala432= Multiple submitters autoimmune lymphoproliferative syndrome type 2A
p.Ala58= Multiple submitters autoimmune lymphoproliferative syndrome type 2A
p.Phe449= Multiple submitters autoimmune lymphoproliferative syndrome type 2A

Likely benign 147

p.Ser409= Multiple submitters autoimmune lymphoproliferative syndrome type 2A
c.1416-12del Single submitter autoimmune lymphoproliferative syndrome type 2A
c.1416-13T>A Single submitter autoimmune lymphoproliferative syndrome type 2A
c.1416-17T>A Single submitter autoimmune lymphoproliferative syndrome type 2A
c.1416-322C>G Single submitter
c.1416-4G>A Single submitter autoimmune lymphoproliferative syndrome type 2A
c.1416-4G>C Single submitter autoimmune lymphoproliferative syndrome type 2A
c.347+10G>T Single submitter autoimmune lymphoproliferative syndrome type 2A
c.347+11G>A Single submitter autoimmune lymphoproliferative syndrome type 2A
c.347+12T>G Single submitter autoimmune lymphoproliferative syndrome type 2A
c.347+16T>C Single submitter autoimmune lymphoproliferative syndrome type 2A
c.347+9G>A Single submitter autoimmune lymphoproliferative syndrome type 2A
c.348-13G>C Single submitter autoimmune lymphoproliferative syndrome type 2A
c.348-4T>C Single submitter autoimmune lymphoproliferative syndrome type 2A
c.441+197A>G Single submitter
c.441+19A>G Single submitter autoimmune lymphoproliferative syndrome type 2A
c.441+8G>A Single submitter autoimmune lymphoproliferative syndrome type 2A
c.442-18C>A Single submitter autoimmune lymphoproliferative syndrome type 2A
c.442-18C>G Single submitter autoimmune lymphoproliferative syndrome type 2A
c.442-20C>G Single submitter autoimmune lymphoproliferative syndrome type 2A
c.577+12G>A Single submitter autoimmune lymphoproliferative syndrome type 2A
c.577+20T>C Single submitter autoimmune lymphoproliferative syndrome type 2A
c.577+7A>G Single submitter autoimmune lymphoproliferative syndrome type 2A
c.577+8G>A Single submitter autoimmune lymphoproliferative syndrome type 2A
c.577+8G>T Single submitter autoimmune lymphoproliferative syndrome type 2A
c.578-10T>G Single submitter autoimmune lymphoproliferative syndrome type 2A
c.578-18C>T Single submitter autoimmune lymphoproliferative syndrome type 2A
c.684+13G>C Single submitter autoimmune lymphoproliferative syndrome type 2A
c.684+15G>A Single submitter autoimmune lymphoproliferative syndrome type 2A
c.684+17G>A Single submitter autoimmune lymphoproliferative syndrome type 2A
c.684+20G>A Single submitter autoimmune lymphoproliferative syndrome type 2A
c.684+20G>C Single submitter autoimmune lymphoproliferative syndrome type 2A
c.684+9A>G Single submitter autoimmune lymphoproliferative syndrome type 2A
c.685-15T>C Single submitter autoimmune lymphoproliferative syndrome type 2A
c.685-17C>T Single submitter autoimmune lymphoproliferative syndrome type 2A
c.685-3243G>A Single submitter
c.721+7A>G Single submitter autoimmune lymphoproliferative syndrome type 2A
c.722-15T>C Single submitter autoimmune lymphoproliferative syndrome type 2A
c.722-17A>G Single submitter autoimmune lymphoproliferative syndrome type 2A
c.813+9G>A Single submitter autoimmune lymphoproliferative syndrome type 2A
c.814-10A>G Single submitter autoimmune lymphoproliferative syndrome type 2A
c.814-14A>G Single submitter autoimmune lymphoproliferative syndrome type 2A
c.814-16C>G Single submitter autoimmune lymphoproliferative syndrome type 2A
c.814-19G>C Single submitter autoimmune lymphoproliferative syndrome type 2A
c.814-304del Single submitter
c.814-9T>C Single submitter autoimmune lymphoproliferative syndrome type 2A
c.922+18A>G Single submitter autoimmune lymphoproliferative syndrome type 2A
c.922+19G>C Single submitter autoimmune lymphoproliferative syndrome type 2A
c.922+326A>G Single submitter
c.923-12del Single submitter autoimmune lymphoproliferative syndrome type 2A
c.923-12G>A Single submitter autoimmune lymphoproliferative syndrome type 2A
c.923-17T>G Single submitter autoimmune lymphoproliferative syndrome type 2A
c.923-18T>G Single submitter autoimmune lymphoproliferative syndrome type 2A
c.923-8T>C Single submitter autoimmune lymphoproliferative syndrome type 2A
c.-285C>T Single submitter autoimmune lymphoproliferative syndrome type 2A
c.-8+188C>T Single submitter
p.Ala205= Single submitter autoimmune lymphoproliferative syndrome type 2A
p.Ala244= Single submitter autoimmune lymphoproliferative syndrome type 2A
p.Ala274= Single submitter
p.Ala346= Single submitter autoimmune lymphoproliferative syndrome type 2A
p.Ala363= Single submitter autoimmune lymphoproliferative syndrome type 2A
p.Ala400= Single submitter autoimmune lymphoproliferative syndrome type 2A
p.Ala504= Single submitter autoimmune lymphoproliferative syndrome type 2A
p.Ala519= Single submitter autoimmune lymphoproliferative syndrome type 2A
p.Arg243= Single submitter autoimmune lymphoproliferative syndrome type 2A
p.Arg254= Single submitter autoimmune lymphoproliferative syndrome type 2A
p.Arg450= Single submitter autoimmune lymphoproliferative syndrome type 2A
p.Arg87Gly Single submitter
p.Asn130= Single submitter autoimmune lymphoproliferative syndrome type 2A
p.Asn15= Single submitter autoimmune lymphoproliferative syndrome type 2A
p.Asn281= Single submitter autoimmune lymphoproliferative syndrome type 2A
p.Asn30= Single submitter autoimmune lymphoproliferative syndrome type 2A
p.Asn418= Single submitter autoimmune lymphoproliferative syndrome type 2A
p.Asn484= Single submitter autoimmune lymphoproliferative syndrome type 2A
p.Asp299= Single submitter autoimmune lymphoproliferative syndrome type 2A
p.Asp347= Single submitter autoimmune lymphoproliferative syndrome type 2A
p.Asp475= Single submitter autoimmune lymphoproliferative syndrome type 2A
p.Asp485= Single submitter autoimmune lymphoproliferative syndrome type 2A
p.Asp75= Single submitter autoimmune lymphoproliferative syndrome type 2A
p.Cys341= Single submitter autoimmune lymphoproliferative syndrome type 2A
p.Gln339= Single submitter autoimmune lymphoproliferative syndrome type 2A
p.Gln399= Single submitter autoimmune lymphoproliferative syndrome type 2A
p.Glu103= Single submitter autoimmune lymphoproliferative syndrome type 2A
p.Glu206= Single submitter autoimmune lymphoproliferative syndrome type 2A
p.Glu230= Single submitter autoimmune lymphoproliferative syndrome type 2A
p.Glu308= Single submitter autoimmune lymphoproliferative syndrome type 2A
p.Glu420= Single submitter autoimmune lymphoproliferative syndrome type 2A
p.Glu453= Single submitter autoimmune lymphoproliferative syndrome type 2A
p.Glu474= Single submitter autoimmune lymphoproliferative syndrome type 2A
p.Gly238= Single submitter autoimmune lymphoproliferative syndrome type 2A
p.Gly318= Single submitter autoimmune lymphoproliferative syndrome type 2A
p.Gly362= Single submitter autoimmune lymphoproliferative syndrome type 2A
p.His304= Single submitter autoimmune lymphoproliferative syndrome type 2A
p.His312= Single submitter autoimmune lymphoproliferative syndrome type 2A
p.His345= Single submitter autoimmune lymphoproliferative syndrome type 2A
p.His465= Single submitter autoimmune lymphoproliferative syndrome type 2A
p.Ile135= Single submitter autoimmune lymphoproliferative syndrome type 2A
p.Ile412= Single submitter autoimmune lymphoproliferative syndrome type 2A
p.Leu182= Single submitter autoimmune lymphoproliferative syndrome type 2A
p.Leu31= Single submitter autoimmune lymphoproliferative syndrome type 2A
p.Leu310= Single submitter autoimmune lymphoproliferative syndrome type 2A
p.Leu356= Single submitter autoimmune lymphoproliferative syndrome type 2A
p.Leu371= Single submitter autoimmune lymphoproliferative syndrome type 2A
p.Leu389= Single submitter autoimmune lymphoproliferative syndrome type 2A
p.Leu39= Single submitter autoimmune lymphoproliferative syndrome type 2A
p.Leu395= Single submitter autoimmune lymphoproliferative syndrome type 2A
p.Leu42= Single submitter autoimmune lymphoproliferative syndrome type 2A
p.Leu426= Single submitter autoimmune lymphoproliferative syndrome type 2A
p.Leu437= Single submitter autoimmune lymphoproliferative syndrome type 2A
p.Leu469= Single submitter autoimmune lymphoproliferative syndrome type 2A
p.Leu480= Single submitter autoimmune lymphoproliferative syndrome type 2A
p.Leu507= Single submitter autoimmune lymphoproliferative syndrome type 2A
p.Leu517= Single submitter autoimmune lymphoproliferative syndrome type 2A
p.Leu522= Single submitter autoimmune lymphoproliferative syndrome type 2A
p.Leu71= Single submitter autoimmune lymphoproliferative syndrome type 2A
p.Leu83= Single submitter autoimmune lymphoproliferative syndrome type 2A
p.Leu91= Single submitter autoimmune lymphoproliferative syndrome type 2A
p.Lys158= Single submitter autoimmune lymphoproliferative syndrome type 2A
p.Lys298= Single submitter autoimmune lymphoproliferative syndrome type 2A
p.Lys394= Single submitter autoimmune lymphoproliferative syndrome type 2A
p.Lys51= Single submitter autoimmune lymphoproliferative syndrome type 2A
p.Lys90= Single submitter autoimmune lymphoproliferative syndrome type 2A
p.Lys99Glu Single submitter autoimmune lymphoproliferative syndrome type 2A
p.Phe351= Single submitter autoimmune lymphoproliferative syndrome type 2A
p.Phe78= Single submitter autoimmune lymphoproliferative syndrome type 2A
p.Pro200= Single submitter autoimmune lymphoproliferative syndrome type 2A
p.Pro387= Single submitter autoimmune lymphoproliferative syndrome type 2A
p.Pro48= Single submitter autoimmune lymphoproliferative syndrome type 2A
p.Pro503= Single submitter autoimmune lymphoproliferative syndrome type 2A
p.Ser141= Single submitter autoimmune lymphoproliferative syndrome type 2A
p.Ser207= Single submitter autoimmune lymphoproliferative syndrome type 2A
p.Ser239= Single submitter autoimmune lymphoproliferative syndrome type 2A
p.Ser239Cys Single submitter autoimmune lymphoproliferative syndrome type 2A ⚠
p.Ser250= Single submitter autoimmune lymphoproliferative syndrome type 2A
p.Ser367= Single submitter autoimmune lymphoproliferative syndrome type 2A
p.Thr245= Single submitter autoimmune lymphoproliferative syndrome type 2A
p.Thr263= Single submitter autoimmune lymphoproliferative syndrome type 2A
p.Thr270= Single submitter autoimmune lymphoproliferative syndrome type 2A
p.Thr295= Single submitter autoimmune lymphoproliferative syndrome type 2A
p.Thr328= Single submitter autoimmune lymphoproliferative syndrome type 2A
p.Thr442= Single submitter autoimmune lymphoproliferative syndrome type 2A
p.Thr506= Single submitter autoimmune lymphoproliferative syndrome type 2A
p.Tyr120= Single submitter autoimmune lymphoproliferative syndrome type 2A
p.Val289= Single submitter autoimmune lymphoproliferative syndrome type 2A
p.Val491= Single submitter autoimmune lymphoproliferative syndrome type 2A
p.Asp202= No assertion criteria CASP10-related disorder
p.Gly348= No assertion criteria CASP10-related disorder

Uncertain significance 382

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

c.1415+2T>C Multiple submitters autoimmune lymphoproliferative syndrome type 2A
c.347+2T>G Multiple submitters autoimmune lymphoproliferative syndrome type 2A
c.684+1G>A Multiple submitters autoimmune lymphoproliferative syndrome type 2A
c.922+5G>A Multiple submitters autoimmune lymphoproliferative syndrome type 2A
p.Ala237Glu Multiple submitters autoimmune lymphoproliferative syndrome type 2A ⚠
p.Ala248Val Multiple submitters autoimmune lymphoproliferative syndrome type 2A ⚠
p.Ala259Thr Multiple submitters autoimmune lymphoproliferative syndrome type 2A ⚠
p.Ala259Val Multiple submitters autoimmune lymphoproliferative syndrome type 2A ⚠
p.Ala400Thr Multiple submitters CASP10-related disorder ⚠
p.Ala67Ser Multiple submitters autoimmune lymphoproliferative syndrome type 2A ⚠
p.Arg104Gln Multiple submitters autoimmune lymphoproliferative syndrome type 2A ⚠
p.Arg109Pro Multiple submitters autoimmune lymphoproliferative syndrome type 2A ⚠
p.Arg109Ter Multiple submitters autoimmune lymphoproliferative syndrome type 1
p.Arg21His Multiple submitters autoimmune lymphoproliferative syndrome type 2A ⚠
p.Arg280Trp Multiple submitters autoimmune lymphoproliferative syndrome type 2A ⚠
p.Arg375Gln Multiple submitters autoimmune lymphoproliferative syndrome type 2A ⚠
p.Arg450Gln Multiple submitters autoimmune lymphoproliferative syndrome type 2A ⚠
p.Arg489Ter Multiple submitters autoimmune lymphoproliferative syndrome type 2A
p.Arg87Trp Multiple submitters autoimmune lymphoproliferative syndrome type 2A ⚠
p.Asn342Ser Multiple submitters autoimmune lymphoproliferative syndrome type 2A ⚠
p.Asp172Glu Multiple submitters autoimmune lymphoproliferative syndrome type 2A ⚠
p.Cys169Trp Multiple submitters autoimmune lymphoproliferative syndrome type 2A ⚠
p.Cys16Tyr Multiple submitters autoimmune lymphoproliferative syndrome type 2A ⚠
p.Cys354Arg Multiple submitters autoimmune lymphoproliferative syndrome type 2A ⚠
p.Cys463Ser Multiple submitters autoimmune lymphoproliferative syndrome type 2A ⚠
p.Gln399His Multiple submitters autoimmune lymphoproliferative syndrome type 2A ⚠
p.Gln427Arg Multiple submitters autoimmune lymphoproliferative syndrome type 2A ⚠
p.Gln4Arg Multiple submitters autoimmune lymphoproliferative syndrome type 2A ⚠
p.Glu121Lys Multiple submitters autoimmune lymphoproliferative syndrome type 2A ⚠
p.Glu129Asp Multiple submitters autoimmune lymphoproliferative syndrome type 2A ⚠
p.Glu146Ala Multiple submitters autoimmune lymphoproliferative syndrome type 2A ⚠
p.Glu206Lys Multiple submitters autoimmune lymphoproliferative syndrome type 2A ⚠
p.Glu308Asp Multiple submitters autoimmune lymphoproliferative syndrome type 2A ⚠
p.Glu433Lys Multiple submitters autoimmune lymphoproliferative syndrome type 2A ⚠
p.Gly160Ser Multiple submitters autoimmune lymphoproliferative syndrome type 2A ⚠
p.Gly255Arg Multiple submitters autoimmune lymphoproliferative syndrome type 2A ⚠
p.Gly318Glu Multiple submitters autoimmune lymphoproliferative syndrome type 2A ⚠
p.Gly403Arg Multiple submitters autoimmune lymphoproliferative syndrome type 2A ⚠
p.Gly403Ser Multiple submitters autoimmune lymphoproliferative syndrome type 2A ⚠
p.Gly45Arg Multiple submitters autoimmune lymphoproliferative syndrome type 2A ⚠
p.His304Tyr Multiple submitters autoimmune lymphoproliferative syndrome type 2A ⚠
p.His345Tyr Multiple submitters ⚠
p.Ile185Arg Multiple submitters autoimmune lymphoproliferative syndrome type 2A ⚠
p.Ile185Met Multiple submitters autoimmune lymphoproliferative syndrome type 2A ⚠
p.Ile185Val Multiple submitters autoimmune lymphoproliferative syndrome type 2A ⚠
p.Ile44Leu Multiple submitters autoimmune lymphoproliferative syndrome type 2A ⚠
p.Leu520Phe Multiple submitters autoimmune lymphoproliferative syndrome type 2A
p.Leu83Phe Multiple submitters autoimmune lymphoproliferative syndrome type 2A ⚠
p.Leu83Val Multiple submitters autoimmune lymphoproliferative syndrome type 2A ⚠
p.Met147Thr Multiple submitters autoimmune lymphoproliferative syndrome type 1 ⚠
p.Phe294Val Multiple submitters autoimmune lymphoproliferative syndrome type 2A ⚠
p.Phe513Leu Multiple submitters autoimmune lymphoproliferative syndrome type 2A
p.Pro200Ser Multiple submitters autoimmune lymphoproliferative syndrome type 2A ⚠
p.Pro228Leu Multiple submitters autoimmune lymphoproliferative syndrome type 2A ⚠
p.Pro228Ser Multiple submitters autoimmune lymphoproliferative syndrome type 2A ⚠
p.Pro387Ala Multiple submitters CASP10-related disorder ⚠
p.Pro48Ser Multiple submitters autoimmune lymphoproliferative syndrome type 2A ⚠
p.Pro516Ala Multiple submitters autoimmune lymphoproliferative syndrome type 2A
p.Ser141Leu Multiple submitters autoimmune lymphoproliferative syndrome type 2A ⚠
p.Ser141Ter Multiple submitters autoimmune lymphoproliferative syndrome type 2A
p.Ser207Leu Multiple submitters autoimmune lymphoproliferative syndrome type 2A ⚠
p.Ser266Phe Multiple submitters autoimmune lymphoproliferative syndrome type 2A ⚠
p.Ser55Pro Multiple submitters autoimmune lymphoproliferative syndrome type 2A ⚠
p.Ter523Gln Multiple submitters autoimmune lymphoproliferative syndrome type 2A
p.Thr168Ala Multiple submitters autoimmune lymphoproliferative syndrome type 2A ⚠
p.Thr198Lys Multiple submitters autoimmune lymphoproliferative syndrome type 2A ⚠
p.Thr222Ala Multiple submitters autoimmune lymphoproliferative syndrome type 2A ⚠
p.Thr245Pro Multiple submitters autoimmune lymphoproliferative syndrome type 2A ⚠
p.Thr424Ile Multiple submitters autoimmune lymphoproliferative syndrome type 2A ⚠
p.Thr442Ile Multiple submitters autoimmune lymphoproliferative syndrome type 2A ⚠
p.Thr506Ile Multiple submitters autoimmune lymphoproliferative syndrome type 2A
p.Tyr208Cys Multiple submitters CASP10-related disorder ⚠
p.Tyr365fs Multiple submitters autoimmune lymphoproliferative syndrome type 2A
p.Val112Ala Multiple submitters autoimmune lymphoproliferative syndrome type 2A ⚠
p.Val487Gly Multiple submitters autoimmune lymphoproliferative syndrome type 2A
c.1415+1G>A Single submitter autoimmune lymphoproliferative syndrome type 2A
c.1415+5G>A Single submitter lymphoma, non-Hodgkin, familial
c.1415+5G>C Single submitter autoimmune lymphoproliferative syndrome type 2A
c.1416-3C>A Single submitter autoimmune lymphoproliferative syndrome type 2A
c.347+6G>A Single submitter autoimmune lymphoproliferative syndrome type 2A
c.347+6G>T Single submitter autoimmune lymphoproliferative syndrome type 2A
c.441+3G>A Single submitter autoimmune lymphoproliferative syndrome type 2A
c.577+3A>G Single submitter autoimmune lymphoproliferative syndrome type 2A
c.577+5G>T Single submitter autoimmune lymphoproliferative syndrome type 2A
c.578-1G>T Single submitter autoimmune lymphoproliferative syndrome type 2A
c.578-3C>T Single submitter autoimmune lymphoproliferative syndrome type 2A
c.684+4G>A Single submitter autoimmune lymphoproliferative syndrome type 2A
c.684+4G>T Single submitter autoimmune lymphoproliferative syndrome type 2A
c.685-2A>G Single submitter autoimmune lymphoproliferative syndrome type 2A
c.721+1G>A Single submitter autoimmune lymphoproliferative syndrome type 2A
c.721+3A>G Single submitter autoimmune lymphoproliferative syndrome type 2A
c.722-11T>G Single submitter autoimmune lymphoproliferative syndrome type 2A
c.722-3T>C Single submitter autoimmune lymphoproliferative syndrome type 2A
c.813+3C>T Single submitter autoimmune lymphoproliferative syndrome type 2A
c.813+6G>A Single submitter autoimmune lymphoproliferative syndrome type 2A
c.814-11T>C Single submitter autoimmune lymphoproliferative syndrome type 2A
c.814-15T>C Single submitter autoimmune lymphoproliferative syndrome type 2A
c.814-6T>G Single submitter autoimmune lymphoproliferative syndrome type 2A
c.923-3C>A Single submitter
c.923-4A>G Single submitter autoimmune lymphoproliferative syndrome type 2A
c.-314G>A Single submitter autoimmune lymphoproliferative syndrome type 2A
c.*1022C>T Single submitter autoimmune lymphoproliferative syndrome type 2A
c.*1038C>T Single submitter autoimmune lymphoproliferative syndrome type 2A
c.*1125T>C Single submitter autoimmune lymphoproliferative syndrome type 2A
c.*116C>A Single submitter autoimmune lymphoproliferative syndrome type 2A
c.*1257G>A Single submitter autoimmune lymphoproliferative syndrome type 2A
c.*1258G>T Single submitter autoimmune lymphoproliferative syndrome type 2A
c.*1327G>A Single submitter autoimmune lymphoproliferative syndrome type 2A
c.*1366T>C Single submitter autoimmune lymphoproliferative syndrome type 2A
c.*136A>G Single submitter autoimmune lymphoproliferative syndrome type 2A
c.*1395G>A Single submitter autoimmune lymphoproliferative syndrome type 2A
c.*1538T>A Single submitter autoimmune lymphoproliferative syndrome type 2A
c.*1542A>T Single submitter autoimmune lymphoproliferative syndrome type 2A
c.*1624T>C Single submitter autoimmune lymphoproliferative syndrome type 2A
c.*1654C>T Single submitter autoimmune lymphoproliferative syndrome type 2A
c.*1909A>G Single submitter autoimmune lymphoproliferative syndrome type 2A
c.*1954C>T Single submitter autoimmune lymphoproliferative syndrome type 2A
c.*2381G>C Single submitter autoimmune lymphoproliferative syndrome type 2A
c.*2425C>G Single submitter autoimmune lymphoproliferative syndrome type 2A
c.*2590G>C Single submitter autoimmune lymphoproliferative syndrome type 2A
c.*2594del Single submitter
c.*2600G>T Single submitter autoimmune lymphoproliferative syndrome type 2A
c.*2741C>G Single submitter autoimmune lymphoproliferative syndrome type 2A
c.*2844C>T Single submitter autoimmune lymphoproliferative syndrome type 2A
c.*2869A>C Single submitter autoimmune lymphoproliferative syndrome type 2A
c.*2979C>T Single submitter autoimmune lymphoproliferative syndrome type 2A
c.*2986C>T Single submitter autoimmune lymphoproliferative syndrome type 2A
c.*333C>T Single submitter autoimmune lymphoproliferative syndrome type 2A
c.*3365A>G Single submitter autoimmune lymphoproliferative syndrome type 2A
c.*3420C>T Single submitter autoimmune lymphoproliferative syndrome type 2A
c.*3437C>A Single submitter autoimmune lymphoproliferative syndrome type 2A
c.*3473T>G Single submitter autoimmune lymphoproliferative syndrome type 2A
c.*3478T>G Single submitter autoimmune lymphoproliferative syndrome type 2A
c.*3488G>A Single submitter autoimmune lymphoproliferative syndrome type 2A
c.*3510G>A Single submitter autoimmune lymphoproliferative syndrome type 2A
c.*3591A>G Single submitter autoimmune lymphoproliferative syndrome type 2A
c.*3613C>T Single submitter autoimmune lymphoproliferative syndrome type 2A
c.*3835G>A Single submitter autoimmune lymphoproliferative syndrome type 2A
c.*3845C>T Single submitter autoimmune lymphoproliferative syndrome type 2A
c.*480A>G Single submitter autoimmune lymphoproliferative syndrome type 2A
c.*607G>A Single submitter autoimmune lymphoproliferative syndrome type 2A
c.*632G>A Single submitter autoimmune lymphoproliferative syndrome type 2A
c.*657G>C Single submitter autoimmune lymphoproliferative syndrome type 2A
c.*732T>A Single submitter autoimmune lymphoproliferative syndrome type 2A
c.*733A>T Single submitter autoimmune lymphoproliferative syndrome type 2A
c.*740T>G Single submitter autoimmune lymphoproliferative syndrome type 2A
c.*905C>T Single submitter autoimmune lymphoproliferative syndrome type 2A
c.*911T>G Single submitter autoimmune lymphoproliferative syndrome type 2A
p.Ala154Glu Single submitter autoimmune lymphoproliferative syndrome type 2A ⚠
p.Ala248Ser Single submitter ⚠
p.Ala273Thr Single submitter autoimmune lymphoproliferative syndrome type 2A ⚠
p.Ala307Asp Single submitter autoimmune lymphoproliferative syndrome type 2A ⚠
p.Ala307Val Single submitter autoimmune lymphoproliferative syndrome type 2A ⚠
p.Ala344Val Single submitter autoimmune lymphoproliferative syndrome type 2A ⚠
p.Ala383Asp Single submitter autoimmune lymphoproliferative syndrome type 2A ⚠
p.Ala390Val Single submitter autoimmune lymphoproliferative syndrome type 2A ⚠
p.Ala400Pro Single submitter autoimmune lymphoproliferative syndrome type 2A ⚠
p.Ala400Val Single submitter autoimmune lymphoproliferative syndrome type 2A ⚠
p.Ala507Val Single submitter ⚠
p.Ala519Glu Single submitter autoimmune lymphoproliferative syndrome type 2A
p.Arg104Ter Single submitter autoimmune lymphoproliferative syndrome type 2A
p.Arg111Thr Single submitter autoimmune lymphoproliferative syndrome type 2A ⚠
p.Arg183Ile Single submitter autoimmune lymphoproliferative syndrome type 2A ⚠
p.Arg21Cys Single submitter autoimmune lymphoproliferative syndrome type 2A ⚠
p.Arg21Pro Single submitter ⚠
p.Arg254Gly Single submitter autoimmune lymphoproliferative syndrome type 2A ⚠
p.Arg280Gln Single submitter autoimmune lymphoproliferative syndrome type 2A ⚠
p.Arg280Pro Single submitter autoimmune lymphoproliferative syndrome type 2A ⚠
p.Arg450Trp Single submitter autoimmune lymphoproliferative syndrome type 2A ⚠
p.Arg508Gly Single submitter autoimmune lymphoproliferative syndrome type 2A
p.Arg511Gln Single submitter ⚠
p.Arg87Gln Single submitter autoimmune lymphoproliferative syndrome type 2A ⚠
p.Asn184fs Single submitter autoimmune lymphoproliferative syndrome type 2A
p.Asn234Ile Single submitter autoimmune lymphoproliferative syndrome type 2A ⚠
p.Asn240= Single submitter
p.Asn262fs Single submitter autoimmune lymphoproliferative syndrome type 2A
p.Asn262Lys Single submitter autoimmune lymphoproliferative syndrome type 2A ⚠
p.Asn290Tyr Single submitter autoimmune lymphoproliferative syndrome type 2A ⚠
p.Asn30Ile Single submitter autoimmune lymphoproliferative syndrome type 2A ⚠
p.Asn325Ser Single submitter autoimmune lymphoproliferative syndrome type 2A ⚠
p.Asn49Ser Single submitter autoimmune lymphoproliferative syndrome type 2A ⚠
p.Asp127Gly Single submitter autoimmune lymphoproliferative syndrome type 2A ⚠
p.Asp133Glu Single submitter autoimmune lymphoproliferative syndrome type 2A ⚠
p.Asp140Ala Single submitter autoimmune lymphoproliferative syndrome type 2A ⚠
p.Asp163Tyr Single submitter autoimmune lymphoproliferative syndrome type 2A ⚠
p.Asp165Gly Single submitter autoimmune lymphoproliferative syndrome type 2A ⚠
p.Asp202Asn Single submitter autoimmune lymphoproliferative syndrome type 2A ⚠
p.Asp202fs Single submitter autoimmune lymphoproliferative syndrome type 2A
p.Asp202Gly Single submitter ⚠
p.Asp219Glu Single submitter autoimmune lymphoproliferative syndrome type 2A ⚠
p.Asp219Gly Single submitter autoimmune lymphoproliferative syndrome type 2A ⚠
p.Asp28His Single submitter autoimmune lymphoproliferative syndrome type 2A ⚠
p.Asp299His Single submitter autoimmune lymphoproliferative syndrome type 2A ⚠
p.Asp347Asn Single submitter autoimmune lymphoproliferative syndrome type 2A ⚠
p.Asp35Asn Single submitter autoimmune lymphoproliferative syndrome type 2A ⚠
p.Asp428Gly Single submitter autoimmune lymphoproliferative syndrome type 2A ⚠
p.Asp428His Single submitter autoimmune lymphoproliferative syndrome type 2A ⚠
p.Asp485His Single submitter
p.Asp486Val Single submitter autoimmune lymphoproliferative syndrome type 2A
p.Cys169Phe Single submitter autoimmune lymphoproliferative syndrome type 2A ⚠
p.Cys169Tyr Single submitter ⚠
p.Cys174Trp Single submitter autoimmune lymphoproliferative syndrome type 2A ⚠
p.Cys341Phe Single submitter ⚠
p.Cys341Trp Single submitter ⚠
p.Cys341Tyr Single submitter autoimmune lymphoproliferative syndrome type 2A ⚠
p.Cys386Tyr Single submitter autoimmune lymphoproliferative syndrome type 2A ⚠
p.Gln195Arg Single submitter autoimmune lymphoproliferative syndrome type 2A ⚠
p.Gln195His Single submitter autoimmune lymphoproliferative syndrome type 2A ⚠
p.Gln209Lys Single submitter autoimmune lymphoproliferative syndrome type 2A ⚠
p.Gln229Leu Single submitter autoimmune lymphoproliferative syndrome type 2A ⚠
p.Gln229Ter Single submitter autoimmune lymphoproliferative syndrome type 2A
p.Gln301Glu Single submitter autoimmune lymphoproliferative syndrome type 2A ⚠
p.Gln339Glu Single submitter autoimmune lymphoproliferative syndrome type 2A ⚠
p.Gln385Ter Single submitter autoimmune lymphoproliferative syndrome type 2A
p.Gln460Arg Single submitter autoimmune lymphoproliferative syndrome type 2A ⚠
p.Gln88His Single submitter ⚠
p.Gln93Pro Single submitter autoimmune lymphoproliferative syndrome type 2A ⚠
p.Glu101Asp Single submitter autoimmune lymphoproliferative syndrome type 2A ⚠
p.Glu103Gly Single submitter autoimmune lymphoproliferative syndrome type 2A ⚠
p.Glu129Lys Single submitter autoimmune lymphoproliferative syndrome type 2A ⚠
p.Glu157Asp Single submitter autoimmune lymphoproliferative syndrome type 2A ⚠
p.Glu164Ala Single submitter autoimmune lymphoproliferative syndrome type 2A ⚠
p.Glu204Gln Single submitter autoimmune lymphoproliferative syndrome type 2A ⚠
p.Glu333Lys Single submitter autoimmune lymphoproliferative syndrome type 2A ⚠
p.Glu37Ala Single submitter autoimmune lymphoproliferative syndrome type 2A ⚠
p.Glu413Gly Single submitter ⚠
p.Glu413Lys Single submitter autoimmune lymphoproliferative syndrome type 2A ⚠
p.Glu433Ter Single submitter autoimmune lymphoproliferative syndrome type 2A
p.Glu53Gly Single submitter autoimmune lymphoproliferative syndrome type 2A ⚠
p.Glu74Gly Single submitter autoimmune lymphoproliferative syndrome type 2A ⚠
p.Gly160fs Single submitter autoimmune lymphoproliferative syndrome type 2A
p.Gly160Val Single submitter autoimmune lymphoproliferative syndrome type 2A ⚠
p.Gly210Ala Single submitter autoimmune lymphoproliferative syndrome type 2A ⚠
p.Gly241Arg Single submitter autoimmune lymphoproliferative syndrome type 2A ⚠
p.Gly247Val Single submitter autoimmune lymphoproliferative syndrome type 2A ⚠
p.Gly255= Single submitter autoimmune lymphoproliferative syndrome type 2A
p.Gly255Glu Single submitter autoimmune lymphoproliferative syndrome type 2A ⚠
p.Gly284Ser Single submitter autoimmune lymphoproliferative syndrome type 2A ⚠
p.Gly302Ala Single submitter autoimmune lymphoproliferative syndrome type 2A ⚠
p.Gly302Glu Single submitter autoimmune lymphoproliferative syndrome type 2A ⚠
p.Gly32Arg Single submitter autoimmune lymphoproliferative syndrome type 2A ⚠
p.Gly348Arg Single submitter ⚠
p.Gly403Asp Single submitter ⚠
p.Gly439Val Single submitter autoimmune lymphoproliferative syndrome type 2A ⚠
p.Gly45Glu Single submitter autoimmune lymphoproliferative syndrome type 2A ⚠
p.Gly5Ser Single submitter autoimmune lymphoproliferative syndrome type 2A ⚠
p.His282Asn Single submitter autoimmune lymphoproliferative syndrome type 2A ⚠
p.His292Gln Single submitter ⚠
p.His292Leu Single submitter autoimmune lymphoproliferative syndrome type 2A ⚠
p.His324fs Single submitter autoimmune lymphoproliferative syndrome type 2A
p.His345Gln Single submitter autoimmune lymphoproliferative syndrome type 2A ⚠
p.His358Arg Single submitter autoimmune lymphoproliferative syndrome type 2A ⚠
p.His358Ter Single submitter autoimmune lymphoproliferative syndrome type 2A
p.His380Arg Single submitter autoimmune lymphoproliferative syndrome type 2A ⚠
p.His451Arg Single submitter autoimmune lymphoproliferative syndrome type 2A ⚠
p.His473Arg Single submitter autoimmune lymphoproliferative syndrome type 2A
p.Ile126Val Single submitter autoimmune lymphoproliferative syndrome type 2A ⚠
p.Ile162Met Single submitter autoimmune lymphoproliferative syndrome type 2A ⚠
p.Ile185Thr Single submitter autoimmune lymphoproliferative syndrome type 2A ⚠
p.Ile194Met Single submitter autoimmune lymphoproliferative syndrome type 2A ⚠
p.Ile196fs Single submitter autoimmune lymphoproliferative syndrome type 2A
p.Ile196Met Single submitter ⚠
p.Ile26Val Single submitter autoimmune lymphoproliferative syndrome type 2A ⚠
p.Ile372Met Single submitter autoimmune lymphoproliferative syndrome type 2A ⚠
p.Ile374Asn Single submitter autoimmune lymphoproliferative syndrome type 2A ⚠
p.Ile374Leu Single submitter autoimmune lymphoproliferative syndrome type 2A ⚠
p.Ile398Val Single submitter autoimmune lymphoproliferative syndrome type 2A ⚠
p.Ile430Phe Single submitter autoimmune lymphoproliferative syndrome type 2A ⚠
p.Ile44Thr Single submitter CASP10-related disorder ⚠
p.Ile44Val Single submitter ⚠
p.Ile459Ser Single submitter autoimmune lymphoproliferative syndrome type 2A ⚠
p.Ile86Met Single submitter autoimmune lymphoproliferative syndrome type 2A ⚠
p.Leu105Gln Single submitter autoimmune lymphoproliferative syndrome type 2A ⚠
p.Leu105Pro Single submitter autoimmune lymphoproliferative syndrome type 2A ⚠
p.Leu114Pro Single submitter ⚠
p.Leu122Pro Single submitter autoimmune lymphoproliferative syndrome type 2A ⚠
p.Leu138Pro Single submitter autoimmune lymphoproliferative syndrome type 2A ⚠
p.Leu150Ile Single submitter autoimmune lymphoproliferative syndrome type 2A ⚠
p.Leu150Val Single submitter autoimmune lymphoproliferative syndrome type 2A ⚠
p.Leu156Pro Single submitter autoimmune lymphoproliferative syndrome type 2A ⚠
p.Leu156Val Single submitter CASP10-related disorder ⚠
p.Leu167Val Single submitter autoimmune lymphoproliferative syndrome type 2A ⚠
p.Leu173Phe Single submitter ⚠
p.Leu214Arg Single submitter autoimmune lymphoproliferative syndrome type 2A ⚠
p.Leu227Ser Single submitter autoimmune lymphoproliferative syndrome type 2A ⚠
p.Leu251= Single submitter
p.Leu251Pro Single submitter autoimmune lymphoproliferative syndrome type 2A ⚠
p.Leu264fs Single submitter lymphoma, non-Hodgkin, familial
p.Leu264Pro Single submitter autoimmune lymphoproliferative syndrome type 2A ⚠
p.Leu264Val Single submitter autoimmune lymphoproliferative syndrome type 2A ⚠
p.Leu285Phe Single submitter autoimmune lymphoproliferative syndrome type 2A ⚠
p.Leu371Val Single submitter ⚠
p.Leu46Val Single submitter autoimmune lymphoproliferative syndrome type 2A ⚠
p.Leu480Phe Single submitter autoimmune lymphoproliferative syndrome type 2A
p.Leu520Val Single submitter autoimmune lymphoproliferative syndrome type 2A
p.Leu522fs Single submitter
p.Leu522Ser Single submitter
p.Leu522Thr Single submitter autoimmune lymphoproliferative syndrome type 2A
p.Leu52fs Single submitter autoimmune lymphoproliferative syndrome type 2A
p.Leu70Val Single submitter autoimmune lymphoproliferative syndrome type 2A ⚠