CASP8 — 377 ClinVar variants

All ClinVar germline CASP8 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 133 flagged for review →

17 Pathogenic · 1 Pathogenic/Likely pathogenic · 5 Likely pathogenic · 11 Conflicting · 26 Benign · 6 Benign/Likely benign · 131 Likely benign · 180 Uncertain significance

Full CASP8 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 133

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 3

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

CASP8 p.Asp259Asn Conflicting Single submitter
autoimmune lymphoproliferative syndrome type 2B
CASP8 p.Glu376Asp Conflicting Single submitter
Inborn genetic diseases
CASP8 p.Ile298Val Conflicting Single submitter
autoimmune lymphoproliferative syndrome type 2B

Predictors lean, ClinVar uncertain 87

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

CASP8 p.Ala96Ser Uncertain significance Multiple submitters
autoimmune lymphoproliferative syndrome type 2B
CASP8 p.Arg233Trp Uncertain significance Multiple submitters
Inborn genetic diseases
CASP8 p.Asp223Asn Uncertain significance Multiple submitters
Inborn genetic diseases
CASP8 p.Asp40Glu Uncertain significance Multiple submitters
autoimmune lymphoproliferative syndrome type 2B
CASP8 p.Cys236Arg Uncertain significance Multiple submitters
Inborn genetic diseases
CASP8 p.Gly268Val Uncertain significance Multiple submitters
CASP8 p.Gly350Arg Uncertain significance Multiple submitters
Inborn genetic diseases
CASP8 p.Ile144Met Uncertain significance Multiple submitters
CASP8-related disorder
CASP8 p.Ile38Val Uncertain significance Multiple submitters
autoimmune lymphoproliferative syndrome type 2B
CASP8 p.Lys148Arg Uncertain significance Multiple submitters
autoimmune lymphoproliferative syndrome type 2B
CASP8 p.Met104Thr Uncertain significance Multiple submitters
Inborn genetic diseases
CASP8 p.Met307Val Uncertain significance Multiple submitters
autoimmune lymphoproliferative syndrome type 2B
CASP8 p.Pro212Arg Uncertain significance Multiple submitters
Inborn genetic diseases
CASP8 p.Ser338Ala Uncertain significance Multiple submitters
autoimmune lymphoproliferative syndrome type 2B
CASP8 p.Ala359Pro Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2B
CASP8 p.Ala404Gly Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2B
CASP8 p.Arg114Ser Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2B
CASP8 p.Arg213Gly Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2B
CASP8 p.Arg233Gly Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2B
CASP8 p.Arg260Gly Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2B
CASP8 p.Arg33Ser Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2B
CASP8 p.Arg435Gln Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2B
CASP8 p.Arg52Lys Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2B
CASP8 p.Arg82Gly Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2B
CASP8 p.Arg88Lys Uncertain significance Single submitter
Inborn genetic diseases
CASP8 p.Asn240Lys Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2B
CASP8 p.Asn261Ser Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2B
CASP8 p.Asn58Ser Uncertain significance Single submitter
Inborn genetic diseases
CASP8 p.Asp134Val Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2B
CASP8 p.Asp15Asn Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2B
CASP8 p.Asp285Asn Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2B
CASP8 p.Asp395Val Uncertain significance Single submitter
Inborn genetic diseases
CASP8 p.Asp9Asn Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2B
CASP8 p.Cys131Tyr Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2B
CASP8 p.Cys164Phe Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2B
CASP8 p.Cys164Tyr Uncertain significance Single submitter
Inborn genetic diseases
CASP8 p.Cys203Ser Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2B
CASP8 p.Cys309Gly Uncertain significance Single submitter
Inborn genetic diseases
CASP8 p.Cys360Arg Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2B
CASP8 p.Gln220Arg Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2B
CASP8 p.Gln32Glu Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2B
CASP8 p.Gln378Lys Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2B
CASP8 p.Gln97Lys Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2B
CASP8 p.Glu154Asp Uncertain significance Single submitter
Inborn genetic diseases
CASP8 p.Glu201Asp Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2B
CASP8 p.Glu330Val Uncertain significance Single submitter
Inborn genetic diseases
CASP8 p.Glu377Lys Uncertain significance Single submitter
CASP8 p.Glu449Asp Uncertain significance Single submitter
Inborn genetic diseases
CASP8 p.Gly234Glu Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2B
CASP8 p.Gly362Arg Uncertain significance Single submitter
Inborn genetic diseases
CASP8 p.Ile108Thr Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2B
CASP8 p.Ile295Val Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2B
CASP8 p.Ile422Leu Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2B
CASP8 p.Ile98Ser Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2B
CASP8 p.Leu133Val Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2B
CASP8 p.Leu152Arg Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2B
CASP8 p.Leu237Val Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2B
CASP8 p.Leu301Ile Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2B
CASP8 p.Leu348Val Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2B
CASP8 p.Leu400Met Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2B
CASP8 p.Leu42Met Uncertain significance Single submitter
Inborn genetic diseases
CASP8 p.Lys169Gln Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2B
CASP8 p.Lys250Arg Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2B
CASP8 p.Lys353Glu Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2B
CASP8 p.Met206Ile Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2B
CASP8 p.Met307Arg Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2B
CASP8 p.Met53Ile Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2B
CASP8 p.Phe279Ser Uncertain significance Single submitter
Inborn genetic diseases
CASP8 p.Phe340Val Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2B
CASP8 p.Pro394Leu Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2B
CASP8 p.Pro464Thr Uncertain significance Single submitter
Inborn genetic diseases
CASP8 p.Ser16Arg Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2B
CASP8 p.Ser170Asn Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2B
CASP8 p.Ser217Arg Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2B
CASP8 p.Ser219Ala Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2B
CASP8 p.Ser338Pro Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2B
CASP8 p.Ser387Pro Uncertain significance Single submitter
Inborn genetic diseases
CASP8 p.Thr271Ser Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2B
CASP8 p.Thr272Arg Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2B
CASP8 p.Thr272Lys Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2B
CASP8 p.Thr390Met Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2B
CASP8 p.Thr419Asn Uncertain significance Single submitter
Inborn genetic diseases
CASP8 p.Thr441Ile Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2B
CASP8 p.Tyr324Phe Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2B
CASP8 p.Tyr334Cys Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2B
CASP8 p.Tyr392Cys Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2B
CASP8 p.Val112Met Uncertain significance Single submitter
Inborn genetic diseases

Predictors split 43

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

CASP8 p.Arg88Gly Uncertain significance Multiple submitters
Inborn genetic diseases
CASP8 p.Glu84Gly Uncertain significance Multiple submitters
Inborn genetic diseases
CASP8 p.Gly436Asp Uncertain significance Multiple submitters
Inborn genetic diseases
CASP8 p.Lys23Arg Uncertain significance Multiple submitters
Inborn genetic diseases
CASP8 p.Lys472Arg Uncertain significance Multiple submitters
autoimmune lymphoproliferative syndrome type 2B
CASP8 p.Ala267Thr Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2B
CASP8 p.Arg162Ile Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2B
CASP8 p.Arg233Gln Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2B
CASP8 p.Asp437Val Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2B
CASP8 p.Asp9Gly Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2B
CASP8 p.Glu275Gly Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2B
CASP8 p.Glu431Val Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2B
CASP8 p.Glu87Gly Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2B
CASP8 p.Gly153Arg Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2B
CASP8 p.Gly368Ala Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2B
CASP8 p.Gly460Trp Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2B
CASP8 p.Ile144Thr Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2B
CASP8 p.Ile151Thr Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2B
CASP8 p.Ile174Val Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2B
CASP8 p.Ile314Val Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2B
CASP8 p.Leu123Ile Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2B
CASP8 p.Leu139Met Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2B
CASP8 p.Leu254Arg Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2B
CASP8 p.Lys173Asn Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2B
CASP8 p.Lys320Thr Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2B
CASP8 p.Lys351Arg Uncertain significance Single submitter
Inborn genetic diseases
CASP8 p.Pro252Leu Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2B
CASP8 p.Pro31Leu Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2B
CASP8 p.Pro31Ser Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2B
CASP8 p.Pro332Ser Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2B
CASP8 p.Pro370Leu Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2B
CASP8 p.Pro477Leu Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2B
CASP8 p.Ser129Phe Uncertain significance Single submitter
Inborn genetic diseases
CASP8 p.Ser451Arg Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2B
CASP8 p.Ser4Gly Uncertain significance Single submitter
Inborn genetic diseases
CASP8 p.Thr373Ile Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2B
CASP8 p.Tyr299Ser Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2B
CASP8 p.Tyr8Cys Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2B
CASP8 p.Val103Phe Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2B
CASP8 p.Val225Asp Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2B
CASP8 p.Val225Leu Uncertain significance Single submitter
autoimmune lymphoproliferative syndrome type 2B
CASP8 p.Val251Met Uncertain significance Single submitter
Inborn genetic diseases
CASP8 p.Val475Leu Uncertain significance Single submitter
Inborn genetic diseases

All CASP8 variants

Pathogenic 17

c.306-1930dup Single submitter autoimmune lymphoproliferative syndrome type 2B
c.306-1949_306-1947delinsC Single submitter autoimmune lymphoproliferative syndrome type 2B
c.306-1954_306-1953del Single submitter autoimmune lymphoproliferative syndrome type 2B
c.306-1976del Single submitter autoimmune lymphoproliferative syndrome type 2B
c.306-1978G>T Single submitter autoimmune lymphoproliferative syndrome type 2B
p.Ala165fs Single submitter autoimmune lymphoproliferative syndrome type 2B
p.Arg68Ter Single submitter autoimmune lymphoproliferative syndrome type 2B
p.Asn306fs Single submitter autoimmune lymphoproliferative syndrome type 2B
p.Gln227Ter Single submitter autoimmune lymphoproliferative syndrome type 2B
p.Gln329fs Single submitter autoimmune lymphoproliferative syndrome type 2B
p.Gln389Ter Single submitter autoimmune lymphoproliferative syndrome type 2B
p.Lys231Ter Single submitter autoimmune lymphoproliferative syndrome type 2B
p.Phe143_Ile144insPhePhePhePhePhePheXaaXaaXaaXaaGlySerSerGlnAspAspTyrLeuGlnProLeuAlaThrGlyAsnLeuLeuHisIleProGlnAlaLysGluLeuAspIlePhe Single submitter autoimmune lymphoproliferative syndrome type 2B
p.Tyr293Ter Single submitter autoimmune lymphoproliferative syndrome type 2B
p.Val205fs Single submitter autoimmune lymphoproliferative syndrome type 2B
p.Arg435Ter No assertion criteria autoimmune lymphoproliferative syndrome type 2B
p.Val410fs No assertion criteria hepatocellular carcinoma

Pathogenic/Likely pathogenic 1

p.Arg248Trp Multiple submitters autoimmune lymphoproliferative syndrome type 2B

Likely pathogenic 5

c.306-1910G>A Single submitter autoimmune lymphoproliferative syndrome type 2B
c.306-1G>A Single submitter autoimmune lymphoproliferative syndrome type 2B
c.306-2007G>T Single submitter autoimmune lymphoproliferative syndrome type 2B
c.411+1G>C Single submitter autoimmune lymphoproliferative syndrome type 2B
p.Gln107fs Single submitter lung cancer

Conflicting classifications of pathogenicity 11

c.1304+12C>T Single submitter autoimmune lymphoproliferative syndrome type 2B
c.306-1981del Single submitter autoimmune lymphoproliferative syndrome type 2B
c.306-1990A>G Single submitter Inborn genetic diseases
p.Asn176= Single submitter autoimmune lymphoproliferative syndrome type 2B
p.Asp259Asn Single submitter autoimmune lymphoproliferative syndrome type 2B ⚠
p.Glu376Asp Single submitter Inborn genetic diseases ⚠
p.Gly436= Single submitter autoimmune lymphoproliferative syndrome type 2B
p.Ile281= Single submitter autoimmune lymphoproliferative syndrome type 2B
p.Ile298Val Single submitter autoimmune lymphoproliferative syndrome type 2B ⚠
p.Leu157= Single submitter autoimmune lymphoproliferative syndrome type 2B
p.Pro346= Single submitter autoimmune lymphoproliferative syndrome type 2B

Benign 26

c.1305-19A>G Multiple submitters autoimmune lymphoproliferative syndrome type 2B
c.1305-42T>G Multiple submitters
c.305+73T>G Multiple submitters
c.306-2095G>T Multiple submitters
c.802+147T>C Multiple submitters
c.-26-8189A>G Multiple submitters autoimmune lymphoproliferative syndrome type 2B
c.-26-8228T>C Multiple submitters
c.-26-8469T>G Multiple submitters
c.*122G>C Multiple submitters autoimmune lymphoproliferative syndrome type 2B
c.*175C>T Multiple submitters autoimmune lymphoproliferative syndrome type 2B
c.*411G>C Multiple submitters autoimmune lymphoproliferative syndrome type 2B
c.*429A>G Multiple submitters autoimmune lymphoproliferative syndrome type 2B
c.*464T>C Multiple submitters autoimmune lymphoproliferative syndrome type 2B
c.*83G>A Multiple submitters autoimmune lymphoproliferative syndrome type 2B
c.*845T>A Multiple submitters autoimmune lymphoproliferative syndrome type 2B
c.*99G>A Multiple submitters autoimmune lymphoproliferative syndrome type 2B
p.Lys320= Multiple submitters autoimmune lymphoproliferative syndrome type 2B
p.Thr263= Multiple submitters autoimmune lymphoproliferative syndrome type 2B
c.1305-268A>G Single submitter
c.411+251C>T Single submitter
c.411+285A>C Single submitter
c.595+122_595+123insC Single submitter
c.595+133dup Single submitter
c.660+262G>C Single submitter
c.660+77dup Single submitter
c.-143T>G Single submitter autoimmune lymphoproliferative syndrome type 2B

Benign/Likely benign 6

c.306-1918T>C Multiple submitters autoimmune lymphoproliferative syndrome type 2B
c.595+133del Multiple submitters
c.*60C>T Multiple submitters autoimmune lymphoproliferative syndrome type 2B
p.Asp285His Multiple submitters autoimmune lymphoproliferative syndrome type 2B
p.Ser113= Multiple submitters autoimmune lymphoproliferative syndrome type 2B
p.Ser219Thr Multiple submitters autoimmune lymphoproliferative syndrome type 2B

Likely benign 131

c.*71G>A Multiple submitters autoimmune lymphoproliferative syndrome type 2B
p.Ala247= Multiple submitters Inborn genetic diseases
p.Pro252= Multiple submitters Inborn genetic diseases
p.Ser119= Multiple submitters autoimmune lymphoproliferative syndrome type 2B
c.1304+146G>C Single submitter
c.1304+19G>C Single submitter autoimmune lymphoproliferative syndrome type 2B
c.1304+9_1304+96del Single submitter autoimmune lymphoproliferative syndrome type 2B
c.1305-7A>G Single submitter autoimmune lymphoproliferative syndrome type 2B
c.305+14_305+19del Single submitter autoimmune lymphoproliferative syndrome type 2B
c.305+16del Single submitter autoimmune lymphoproliferative syndrome type 2B
c.305+18T>C Single submitter autoimmune lymphoproliferative syndrome type 2B
c.306-1892T>A Single submitter autoimmune lymphoproliferative syndrome type 2B
c.306-1898_306-1897del Single submitter autoimmune lymphoproliferative syndrome type 2B
c.306-1928C>T Single submitter autoimmune lymphoproliferative syndrome type 2B
c.306-1936C>T Single submitter Inborn genetic diseases
c.306-2000C>T Single submitter autoimmune lymphoproliferative syndrome type 2B
c.306-2012T>C Single submitter autoimmune lymphoproliferative syndrome type 2B
c.306-2014C>T Single submitter autoimmune lymphoproliferative syndrome type 2B
c.306-2015C>G Single submitter autoimmune lymphoproliferative syndrome type 2B
c.306-2017G>T Single submitter autoimmune lymphoproliferative syndrome type 2B
c.306-2018G>A Single submitter autoimmune lymphoproliferative syndrome type 2B
c.306-2020T>C Single submitter autoimmune lymphoproliferative syndrome type 2B
c.306-4A>C Single submitter autoimmune lymphoproliferative syndrome type 2B
c.411+17T>A Single submitter autoimmune lymphoproliferative syndrome type 2B
c.411+17T>C Single submitter autoimmune lymphoproliferative syndrome type 2B
c.411+7C>T Single submitter autoimmune lymphoproliferative syndrome type 2B
c.411+8C>T Single submitter autoimmune lymphoproliferative syndrome type 2B
c.411+9del Single submitter autoimmune lymphoproliferative syndrome type 2B
c.412-10C>T Single submitter autoimmune lymphoproliferative syndrome type 2B
c.412-18del Single submitter autoimmune lymphoproliferative syndrome type 2B
c.412-7C>G Single submitter autoimmune lymphoproliferative syndrome type 2B
c.412-7C>T Single submitter autoimmune lymphoproliferative syndrome type 2B
c.412-9T>G Single submitter autoimmune lymphoproliferative syndrome type 2B
c.550+11C>G Single submitter autoimmune lymphoproliferative syndrome type 2B
c.550+17A>G Single submitter autoimmune lymphoproliferative syndrome type 2B
c.550+20C>T Single submitter autoimmune lymphoproliferative syndrome type 2B
c.596-12C>T Single submitter autoimmune lymphoproliferative syndrome type 2B
c.596-15C>G Single submitter autoimmune lymphoproliferative syndrome type 2B
c.660+14T>A Single submitter autoimmune lymphoproliferative syndrome type 2B
c.660+7G>A Single submitter autoimmune lymphoproliferative syndrome type 2B
c.661-18T>C Single submitter autoimmune lymphoproliferative syndrome type 2B
c.802+12C>T Single submitter autoimmune lymphoproliferative syndrome type 2B
c.802+7T>A Single submitter autoimmune lymphoproliferative syndrome type 2B
c.802+7T>C Single submitter autoimmune lymphoproliferative syndrome type 2B
c.803-10C>T Single submitter autoimmune lymphoproliferative syndrome type 2B
c.803-14A>T Single submitter autoimmune lymphoproliferative syndrome type 2B
c.803-17C>G Single submitter autoimmune lymphoproliferative syndrome type 2B
c.803-20G>A Single submitter autoimmune lymphoproliferative syndrome type 2B
c.803-2881_803-2880insATCTATCAATGTTATGCCCACTGTGCTCTCCAGCTGTGGTCTG Single submitter autoimmune lymphoproliferative syndrome type 2B
c.803-2986C>G Single submitter autoimmune lymphoproliferative syndrome type 2B
c.-26-8076G>A Single submitter
c.-26-8200T>G Single submitter
c.*166G>C Single submitter autoimmune lymphoproliferative syndrome type 2B
c.*755G>A Single submitter autoimmune lymphoproliferative syndrome type 2B
p.Ala165= Single submitter autoimmune lymphoproliferative syndrome type 2B
p.Arg185= Single submitter
p.Arg391= Single submitter autoimmune lymphoproliferative syndrome type 2B
p.Asn138= Single submitter autoimmune lymphoproliferative syndrome type 2B
p.Asn58= Single submitter autoimmune lymphoproliferative syndrome type 2B
p.Asp158= Single submitter autoimmune lymphoproliferative syndrome type 2B
p.Asp210= Single submitter autoimmune lymphoproliferative syndrome type 2B
p.Asp259= Single submitter autoimmune lymphoproliferative syndrome type 2B
p.Asp28= Single submitter autoimmune lymphoproliferative syndrome type 2B
p.Asp319= Single submitter autoimmune lymphoproliferative syndrome type 2B
p.Cys309= Single submitter autoimmune lymphoproliferative syndrome type 2B
p.Gln361= Single submitter autoimmune lymphoproliferative syndrome type 2B
p.Glu110= Single submitter autoimmune lymphoproliferative syndrome type 2B
p.Glu116= Single submitter autoimmune lymphoproliferative syndrome type 2B
p.Glu154= Single submitter autoimmune lymphoproliferative syndrome type 2B
p.Glu276= Single submitter autoimmune lymphoproliferative syndrome type 2B
p.Glu84= Single submitter autoimmune lymphoproliferative syndrome type 2B
p.Glu89= Single submitter autoimmune lymphoproliferative syndrome type 2B
p.Gly11= Single submitter autoimmune lymphoproliferative syndrome type 2B
p.Gly155= Single submitter autoimmune lymphoproliferative syndrome type 2B
p.Gly262= Single submitter autoimmune lymphoproliferative syndrome type 2B
p.Gly362= Single submitter autoimmune lymphoproliferative syndrome type 2B
p.Gly368= Single submitter autoimmune lymphoproliferative syndrome type 2B
p.Gly460= Single submitter autoimmune lymphoproliferative syndrome type 2B
p.His284= Single submitter autoimmune lymphoproliferative syndrome type 2B
p.His304= Single submitter autoimmune lymphoproliferative syndrome type 2B
p.Ile142= Single submitter autoimmune lymphoproliferative syndrome type 2B
p.Ile257= Single submitter autoimmune lymphoproliferative syndrome type 2B
p.Ile323= Single submitter autoimmune lymphoproliferative syndrome type 2B
p.Ile357= Single submitter autoimmune lymphoproliferative syndrome type 2B
p.Ile422= Single submitter autoimmune lymphoproliferative syndrome type 2B
p.Leu105= Single submitter autoimmune lymphoproliferative syndrome type 2B
p.Leu133= Single submitter autoimmune lymphoproliferative syndrome type 2B
p.Leu152= Single submitter autoimmune lymphoproliferative syndrome type 2B
p.Leu160= Single submitter autoimmune lymphoproliferative syndrome type 2B
p.Leu25= Single submitter autoimmune lymphoproliferative syndrome type 2B
p.Leu270= Single submitter autoimmune lymphoproliferative syndrome type 2B
p.Leu400= Single submitter autoimmune lymphoproliferative syndrome type 2B
p.Leu400_Leu401= Single submitter autoimmune lymphoproliferative syndrome type 2B
p.Leu401= Single submitter autoimmune lymphoproliferative syndrome type 2B
p.Leu440= Single submitter autoimmune lymphoproliferative syndrome type 2B
p.Leu65= Single submitter autoimmune lymphoproliferative syndrome type 2B
p.Leu66= Single submitter autoimmune lymphoproliferative syndrome type 2B
p.Lys121= Single submitter autoimmune lymphoproliferative syndrome type 2B
p.Lys161= Single submitter autoimmune lymphoproliferative syndrome type 2B
p.Lys34= Single submitter autoimmune lymphoproliferative syndrome type 2B
p.Lys461= Single submitter autoimmune lymphoproliferative syndrome type 2B
p.Phe120= Single submitter autoimmune lymphoproliferative syndrome type 2B
p.Phe399= Single submitter autoimmune lymphoproliferative syndrome type 2B
p.Pro31= Single submitter autoimmune lymphoproliferative syndrome type 2B
p.Pro379= Single submitter autoimmune lymphoproliferative syndrome type 2B
p.Pro379Ala Single submitter Inborn genetic diseases
p.Pro394= Single submitter autoimmune lymphoproliferative syndrome type 2B
p.Ser129= Single submitter autoimmune lymphoproliferative syndrome type 2B
p.Ser16= Single submitter autoimmune lymphoproliferative syndrome type 2B
p.Ser211= Single submitter autoimmune lymphoproliferative syndrome type 2B
p.Ser316= Single submitter autoimmune lymphoproliferative syndrome type 2B
p.Ser347= Single submitter autoimmune lymphoproliferative syndrome type 2B
p.Ser386= Single submitter autoimmune lymphoproliferative syndrome type 2B
p.Ser387= Single submitter autoimmune lymphoproliferative syndrome type 2B
p.Thr221= Single submitter autoimmune lymphoproliferative syndrome type 2B
p.Thr272= Single submitter autoimmune lymphoproliferative syndrome type 2B
p.Thr273= Single submitter autoimmune lymphoproliferative syndrome type 2B
p.Thr288= Single submitter autoimmune lymphoproliferative syndrome type 2B
p.Thr326= Single submitter autoimmune lymphoproliferative syndrome type 2B
p.Thr390= Single submitter autoimmune lymphoproliferative syndrome type 2B
p.Thr390Lys Single submitter Inborn genetic diseases
p.Thr405= Single submitter autoimmune lymphoproliferative syndrome type 2B
p.Tyr29= Single submitter autoimmune lymphoproliferative syndrome type 2B
p.Tyr324= Single submitter autoimmune lymphoproliferative syndrome type 2B
p.Tyr78= Single submitter autoimmune lymphoproliferative syndrome type 2B
p.Val205= Single submitter autoimmune lymphoproliferative syndrome type 2B
p.Val289= Single submitter autoimmune lymphoproliferative syndrome type 2B
p.Val446= Single submitter autoimmune lymphoproliferative syndrome type 2B
c.-26-8094G>C No assertion criteria autoimmune lymphoproliferative syndrome type 2B
c.-26-8138T>A No assertion criteria autoimmune lymphoproliferative syndrome type 2B
c.-26-8157C>A No assertion criteria autoimmune lymphoproliferative syndrome type 2B

Uncertain significance 180

c.306-1926A>G Multiple submitters Inborn genetic diseases
c.306-1935G>A Multiple submitters Inborn genetic diseases
c.306-1971A>G Multiple submitters autoimmune lymphoproliferative syndrome type 2B
c.660+6C>T Multiple submitters autoimmune lymphoproliferative syndrome type 2B
c.*107C>T Multiple submitters autoimmune lymphoproliferative syndrome type 2B
p.Ala96Ser Multiple submitters autoimmune lymphoproliferative syndrome type 2B ⚠
p.Arg233Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg88Gly Multiple submitters Inborn genetic diseases ⚠
p.Asp223Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp40Glu Multiple submitters autoimmune lymphoproliferative syndrome type 2B ⚠
p.Cys236Arg Multiple submitters Inborn genetic diseases ⚠
p.Glu84Gly Multiple submitters Inborn genetic diseases ⚠
p.Gly268Val Multiple submitters ⚠
p.Gly350Arg Multiple submitters Inborn genetic diseases ⚠
p.Gly436Asp Multiple submitters Inborn genetic diseases ⚠
p.Ile144Met Multiple submitters CASP8-related disorder ⚠
p.Ile38Val Multiple submitters autoimmune lymphoproliferative syndrome type 2B ⚠
p.Lys148Arg Multiple submitters autoimmune lymphoproliferative syndrome type 2B ⚠
p.Lys23Arg Multiple submitters Inborn genetic diseases ⚠
p.Lys472Arg Multiple submitters autoimmune lymphoproliferative syndrome type 2B ⚠
p.Met104Thr Multiple submitters Inborn genetic diseases ⚠
p.Met307Val Multiple submitters autoimmune lymphoproliferative syndrome type 2B ⚠
p.Pro212Arg Multiple submitters Inborn genetic diseases ⚠
p.Ser338Ala Multiple submitters autoimmune lymphoproliferative syndrome type 2B ⚠
c.1304+2T>C Single submitter autoimmune lymphoproliferative syndrome type 2B
c.306-1911G>A Single submitter autoimmune lymphoproliferative syndrome type 2B
c.306-1915A>G Single submitter autoimmune lymphoproliferative syndrome type 2B
c.306-1945C>A Single submitter Inborn genetic diseases
c.306-1954C>G Single submitter autoimmune lymphoproliferative syndrome type 2B
c.306-1962G>A Single submitter Inborn genetic diseases
c.306-1974C>A Single submitter autoimmune lymphoproliferative syndrome type 2B
c.306-1980C>A Single submitter autoimmune lymphoproliferative syndrome type 2B
c.306-1992G>A Single submitter autoimmune lymphoproliferative syndrome type 2B
c.306-1993C>T Single submitter autoimmune lymphoproliferative syndrome type 2B
c.306-1999T>C Single submitter Inborn genetic diseases
c.306-2002C>G Single submitter autoimmune lymphoproliferative syndrome type 2B
c.306-2006G>A Single submitter autoimmune lymphoproliferative syndrome type 2B
c.412-16T>G Single submitter autoimmune lymphoproliferative syndrome type 2B
c.550+3A>G Single submitter autoimmune lymphoproliferative syndrome type 2B
c.802+4C>A Single submitter autoimmune lymphoproliferative syndrome type 2B
c.-117C>A Single submitter autoimmune lymphoproliferative syndrome type 2B
c.-15C>A Single submitter
c.-208A>G Single submitter autoimmune lymphoproliferative syndrome type 2B
c.-26-6994T>C Single submitter autoimmune lymphoproliferative syndrome type 2B
c.-26-8118G>A Single submitter autoimmune lymphoproliferative syndrome type 2B
c.-310A>G Single submitter autoimmune lymphoproliferative syndrome type 2B
c.-83T>C Single submitter autoimmune lymphoproliferative syndrome type 2B
c.*124C>T Single submitter autoimmune lymphoproliferative syndrome type 2B
c.*194T>A Single submitter autoimmune lymphoproliferative syndrome type 2B
c.*223C>T Single submitter autoimmune lymphoproliferative syndrome type 2B
c.*266C>G Single submitter autoimmune lymphoproliferative syndrome type 2B
c.*272A>G Single submitter autoimmune lymphoproliferative syndrome type 2B
c.*304C>T Single submitter autoimmune lymphoproliferative syndrome type 2B
c.*314C>T Single submitter autoimmune lymphoproliferative syndrome type 2B
c.*316C>T Single submitter autoimmune lymphoproliferative syndrome type 2B
c.*346C>T Single submitter autoimmune lymphoproliferative syndrome type 2B
c.*578C>A Single submitter autoimmune lymphoproliferative syndrome type 2B
c.*591T>C Single submitter autoimmune lymphoproliferative syndrome type 2B
c.*686C>T Single submitter autoimmune lymphoproliferative syndrome type 2B
c.*812T>A Single submitter autoimmune lymphoproliferative syndrome type 2B
c.*891C>T Single submitter autoimmune lymphoproliferative syndrome type 2B
c.*98C>T Single submitter autoimmune lymphoproliferative syndrome type 2B
p.Ala267Thr Single submitter autoimmune lymphoproliferative syndrome type 2B ⚠
p.Ala359Pro Single submitter autoimmune lymphoproliferative syndrome type 2B ⚠
p.Ala404Gly Single submitter autoimmune lymphoproliferative syndrome type 2B ⚠
p.Arg102= Single submitter autoimmune lymphoproliferative syndrome type 2B
p.Arg114Ser Single submitter autoimmune lymphoproliferative syndrome type 2B ⚠
p.Arg162Ile Single submitter autoimmune lymphoproliferative syndrome type 2B ⚠
p.Arg213Gly Single submitter autoimmune lymphoproliferative syndrome type 2B ⚠
p.Arg233Gln Single submitter autoimmune lymphoproliferative syndrome type 2B ⚠
p.Arg233Gly Single submitter autoimmune lymphoproliferative syndrome type 2B ⚠
p.Arg260Gly Single submitter autoimmune lymphoproliferative syndrome type 2B ⚠
p.Arg33Ser Single submitter autoimmune lymphoproliferative syndrome type 2B ⚠
p.Arg432Ter Single submitter autoimmune lymphoproliferative syndrome type 2B
p.Arg435Gln Single submitter autoimmune lymphoproliferative syndrome type 2B ⚠
p.Arg52Lys Single submitter autoimmune lymphoproliferative syndrome type 2B ⚠
p.Arg82Gly Single submitter autoimmune lymphoproliferative syndrome type 2B ⚠
p.Arg88Lys Single submitter Inborn genetic diseases ⚠
p.Asn240Lys Single submitter autoimmune lymphoproliferative syndrome type 2B ⚠
p.Asn261Ser Single submitter autoimmune lymphoproliferative syndrome type 2B ⚠
p.Asn58Ser Single submitter Inborn genetic diseases ⚠
p.Asp134Val Single submitter autoimmune lymphoproliferative syndrome type 2B ⚠
p.Asp15Asn Single submitter autoimmune lymphoproliferative syndrome type 2B ⚠
p.Asp285Asn Single submitter autoimmune lymphoproliferative syndrome type 2B ⚠
p.Asp395Val Single submitter Inborn genetic diseases ⚠
p.Asp437Val Single submitter autoimmune lymphoproliferative syndrome type 2B ⚠
p.Asp9Asn Single submitter autoimmune lymphoproliferative syndrome type 2B ⚠
p.Asp9Gly Single submitter autoimmune lymphoproliferative syndrome type 2B ⚠
p.Cys131Tyr Single submitter autoimmune lymphoproliferative syndrome type 2B ⚠
p.Cys164Phe Single submitter autoimmune lymphoproliferative syndrome type 2B ⚠
p.Cys164Tyr Single submitter Inborn genetic diseases ⚠
p.Cys203Ser Single submitter autoimmune lymphoproliferative syndrome type 2B ⚠
p.Cys309Gly Single submitter Inborn genetic diseases ⚠
p.Cys360Arg Single submitter autoimmune lymphoproliferative syndrome type 2B ⚠
p.Gln220Arg Single submitter autoimmune lymphoproliferative syndrome type 2B ⚠
p.Gln32Glu Single submitter autoimmune lymphoproliferative syndrome type 2B ⚠
p.Gln378Lys Single submitter autoimmune lymphoproliferative syndrome type 2B ⚠
p.Gln97Lys Single submitter autoimmune lymphoproliferative syndrome type 2B ⚠
p.Glu111del Single submitter autoimmune lymphoproliferative syndrome type 2B
p.Glu154Asp Single submitter Inborn genetic diseases ⚠
p.Glu201Asp Single submitter autoimmune lymphoproliferative syndrome type 2B ⚠
p.Glu275Gly Single submitter autoimmune lymphoproliferative syndrome type 2B ⚠
p.Glu330Val Single submitter Inborn genetic diseases ⚠
p.Glu377Lys Single submitter ⚠
p.Glu431Val Single submitter autoimmune lymphoproliferative syndrome type 2B ⚠
p.Glu449Asp Single submitter Inborn genetic diseases ⚠
p.Glu87Gly Single submitter autoimmune lymphoproliferative syndrome type 2B ⚠
p.Gly153Arg Single submitter autoimmune lymphoproliferative syndrome type 2B ⚠
p.Gly234Glu Single submitter autoimmune lymphoproliferative syndrome type 2B ⚠
p.Gly362Arg Single submitter Inborn genetic diseases ⚠
p.Gly368Ala Single submitter autoimmune lymphoproliferative syndrome type 2B ⚠
p.Gly460Trp Single submitter autoimmune lymphoproliferative syndrome type 2B ⚠
p.Ile108Thr Single submitter autoimmune lymphoproliferative syndrome type 2B ⚠
p.Ile144Thr Single submitter autoimmune lymphoproliferative syndrome type 2B ⚠
p.Ile151Thr Single submitter autoimmune lymphoproliferative syndrome type 2B ⚠
p.Ile174Val Single submitter autoimmune lymphoproliferative syndrome type 2B ⚠
p.Ile295Val Single submitter autoimmune lymphoproliferative syndrome type 2B ⚠
p.Ile314Val Single submitter autoimmune lymphoproliferative syndrome type 2B ⚠
p.Ile422Leu Single submitter autoimmune lymphoproliferative syndrome type 2B ⚠
p.Ile98Ser Single submitter autoimmune lymphoproliferative syndrome type 2B ⚠
p.Leu123Ile Single submitter autoimmune lymphoproliferative syndrome type 2B ⚠
p.Leu133Val Single submitter autoimmune lymphoproliferative syndrome type 2B ⚠
p.Leu139Met Single submitter autoimmune lymphoproliferative syndrome type 2B ⚠
p.Leu152Arg Single submitter autoimmune lymphoproliferative syndrome type 2B ⚠
p.Leu237Val Single submitter autoimmune lymphoproliferative syndrome type 2B ⚠
p.Leu254Arg Single submitter autoimmune lymphoproliferative syndrome type 2B ⚠
p.Leu301Ile Single submitter autoimmune lymphoproliferative syndrome type 2B ⚠
p.Leu348Val Single submitter autoimmune lymphoproliferative syndrome type 2B ⚠
p.Leu400Met Single submitter autoimmune lymphoproliferative syndrome type 2B ⚠
p.Leu42Met Single submitter Inborn genetic diseases ⚠
p.Lys169Gln Single submitter autoimmune lymphoproliferative syndrome type 2B ⚠
p.Lys173Asn Single submitter autoimmune lymphoproliferative syndrome type 2B ⚠
p.Lys250Arg Single submitter autoimmune lymphoproliferative syndrome type 2B ⚠
p.Lys320Thr Single submitter autoimmune lymphoproliferative syndrome type 2B ⚠
p.Lys351Arg Single submitter Inborn genetic diseases ⚠
p.Lys353Glu Single submitter autoimmune lymphoproliferative syndrome type 2B ⚠
p.Met206Ile Single submitter autoimmune lymphoproliferative syndrome type 2B ⚠
p.Met307Arg Single submitter autoimmune lymphoproliferative syndrome type 2B ⚠
p.Met53Ile Single submitter autoimmune lymphoproliferative syndrome type 2B ⚠
p.Phe279Ser Single submitter Inborn genetic diseases ⚠
p.Phe340Val Single submitter autoimmune lymphoproliferative syndrome type 2B ⚠
p.Pro252Leu Single submitter autoimmune lymphoproliferative syndrome type 2B ⚠
p.Pro31Leu Single submitter autoimmune lymphoproliferative syndrome type 2B ⚠
p.Pro31Ser Single submitter autoimmune lymphoproliferative syndrome type 2B ⚠
p.Pro332Ser Single submitter autoimmune lymphoproliferative syndrome type 2B ⚠
p.Pro370Leu Single submitter autoimmune lymphoproliferative syndrome type 2B ⚠
p.Pro394Leu Single submitter autoimmune lymphoproliferative syndrome type 2B ⚠
p.Pro464Thr Single submitter Inborn genetic diseases ⚠
p.Pro477Leu Single submitter autoimmune lymphoproliferative syndrome type 2B ⚠
p.Ser129Phe Single submitter Inborn genetic diseases ⚠
p.Ser16Arg Single submitter autoimmune lymphoproliferative syndrome type 2B ⚠
p.Ser170Asn Single submitter autoimmune lymphoproliferative syndrome type 2B ⚠
p.Ser209= Single submitter autoimmune lymphoproliferative syndrome type 2B
p.Ser217Arg Single submitter autoimmune lymphoproliferative syndrome type 2B ⚠
p.Ser219Ala Single submitter autoimmune lymphoproliferative syndrome type 2B ⚠
p.Ser338Pro Single submitter autoimmune lymphoproliferative syndrome type 2B ⚠
p.Ser387Pro Single submitter Inborn genetic diseases ⚠
p.Ser451Arg Single submitter autoimmune lymphoproliferative syndrome type 2B ⚠
p.Ser4Gly Single submitter Inborn genetic diseases ⚠
p.Thr271Ser Single submitter autoimmune lymphoproliferative syndrome type 2B ⚠
p.Thr272Arg Single submitter autoimmune lymphoproliferative syndrome type 2B ⚠
p.Thr272Lys Single submitter autoimmune lymphoproliferative syndrome type 2B ⚠
p.Thr373Ile Single submitter autoimmune lymphoproliferative syndrome type 2B ⚠
p.Thr390Met Single submitter autoimmune lymphoproliferative syndrome type 2B ⚠
p.Thr419Asn Single submitter Inborn genetic diseases ⚠
p.Thr441Ile Single submitter autoimmune lymphoproliferative syndrome type 2B ⚠
p.Tyr299Ser Single submitter autoimmune lymphoproliferative syndrome type 2B ⚠
p.Tyr324Phe Single submitter autoimmune lymphoproliferative syndrome type 2B ⚠
p.Tyr334Cys Single submitter autoimmune lymphoproliferative syndrome type 2B ⚠
p.Tyr392Cys Single submitter autoimmune lymphoproliferative syndrome type 2B ⚠
p.Tyr8Cys Single submitter autoimmune lymphoproliferative syndrome type 2B ⚠
p.Val103Phe Single submitter autoimmune lymphoproliferative syndrome type 2B ⚠
p.Val112Met Single submitter Inborn genetic diseases ⚠
p.Val225Asp Single submitter autoimmune lymphoproliferative syndrome type 2B ⚠
p.Val225Leu Single submitter autoimmune lymphoproliferative syndrome type 2B ⚠
p.Val251Met Single submitter Inborn genetic diseases ⚠
p.Val446fs Single submitter autoimmune lymphoproliferative syndrome type 2B
p.Val450fs Single submitter autoimmune lymphoproliferative syndrome type 2B
p.Val475Leu Single submitter Inborn genetic diseases ⚠
c.595+3A>G No assertion criteria CASP8-related disorder