RIPK1 — 580 ClinVar variants
All ClinVar germline RIPK1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 299 flagged for review →
17 Pathogenic · 1 Pathogenic/Likely pathogenic · 10 Likely pathogenic · 21 Conflicting · 6 Benign · 7 Benign/Likely benign · 190 Likely benign · 328 Uncertain significance
Full RIPK1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 299
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.
-
RIPK1 p.Asp324Asn
Pathogenic
Multiple submitters
autoinflammation with episodic fever and lymphadenopathy
Predictors agree, ClinVar conflicts 18
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
RIPK1 p.Ala203Ser
Conflicting
Single submitter
autoinflammation with episodic fever and lymphadenopathy
-
RIPK1 p.Arg413His
Conflicting
Single submitter
immunodeficiency 57
-
RIPK1 p.Cys656Arg
Conflicting
Single submitter
immunodeficiency 57
-
RIPK1 p.Gln398His
Conflicting
Single submitter
immunodeficiency 57
-
RIPK1 p.Glu311Lys
Conflicting
Single submitter
Inborn genetic diseases
-
RIPK1 p.Gly181Ser
Conflicting
Single submitter
Inborn genetic diseases
-
RIPK1 p.Gly341Ser
Conflicting
Single submitter
Inborn genetic diseases
-
RIPK1 p.His445Gln
Conflicting
Single submitter
immunodeficiency 57
-
RIPK1 p.His501Tyr
Conflicting
Single submitter
Inborn genetic diseases
-
RIPK1 p.Ile612Thr
Conflicting
Single submitter
immunodeficiency 57
-
RIPK1 p.Leu349Pro
Conflicting
Single submitter
Inborn genetic diseases
- RIPK1 p.Ser14Ala Conflicting Single submitter
-
RIPK1 p.Ser520Thr
Conflicting
Single submitter
Inborn genetic diseases
-
RIPK1 p.Ser664Asn
Conflicting
Single submitter
Inborn genetic diseases
-
RIPK1 p.Thr395Met
Conflicting
Single submitter
Inborn genetic diseases
- RIPK1 p.Thr552Met Conflicting Single submitter
-
RIPK1 p.Thr645Met
Conflicting
Single submitter
autoinflammation with episodic fever and lymphadenopathy
-
RIPK1 p.Val668Ile
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 246
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 246
- RIPK1 p.Ala106Val Uncertain significance Multiple submitters
-
RIPK1 p.Ala160Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RIPK1 p.Ala194Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RIPK1 p.Ala203Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RIPK1 p.Ala220Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
- RIPK1 p.Ala404Ser Uncertain significance Multiple submitters
-
RIPK1 p.Ala64Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
- RIPK1 p.Ala652Val Uncertain significance Multiple submitters
-
RIPK1 p.Arg258Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RIPK1 p.Arg332Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RIPK1 p.Arg332Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RIPK1 p.Arg412Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RIPK1 p.Arg413Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RIPK1 p.Arg424Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RIPK1 p.Arg603His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RIPK1 p.Arg71Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
- RIPK1 p.Asn174Thr Uncertain significance Multiple submitters
-
RIPK1 p.Asn52Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RIPK1 p.Asp138Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
- RIPK1 p.Glu371Gly Uncertain significance Multiple submitters
-
RIPK1 p.Glu567Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
- RIPK1 p.Glu58Lys Uncertain significance Multiple submitters
-
RIPK1 p.Gly158Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
- RIPK1 p.Gly341Asp Uncertain significance Multiple submitters
- RIPK1 p.Gly348Val Uncertain significance Multiple submitters
-
RIPK1 p.Gly538Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
- RIPK1 p.Gly98Asp Uncertain significance Multiple submitters
-
RIPK1 p.His136Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RIPK1 p.Ile123Thr
Uncertain significance
Multiple submitters
autoinflammation with episodic fever and lymphadenopathy
-
RIPK1 p.Ile533Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
- RIPK1 p.Ile549Met Uncertain significance Multiple submitters
-
RIPK1 p.Leu349Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RIPK1 p.Leu374Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RIPK1 p.Leu60Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RIPK1 p.Lys137Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RIPK1 p.Lys77Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
- RIPK1 p.Met42Ile Uncertain significance Multiple submitters
-
RIPK1 p.Phe28Leu
Uncertain significance
Multiple submitters
immunodeficiency 57
-
RIPK1 p.Phe564Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RIPK1 p.Pro486Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
- RIPK1 p.Pro506Arg Uncertain significance Multiple submitters
-
RIPK1 p.Pro515Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RIPK1 p.Ser166Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RIPK1 p.Ser536Thr
Uncertain significance
Multiple submitters
RIPK1-related disorder
-
RIPK1 p.Thr182Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RIPK1 p.Thr514Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RIPK1 p.Thr583Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RIPK1 p.Tyr469Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RIPK1 p.Tyr531His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RIPK1 p.Val103Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RIPK1 p.Val301Met
Uncertain significance
Multiple submitters
RIPK1-related disorder
-
RIPK1 p.Val636Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
- RIPK1 p.Val81Ile Uncertain significance Multiple submitters
-
RIPK1 p.Ala155Gly
Uncertain significance
Single submitter
immunodeficiency 57
- RIPK1 p.Ala220Pro Uncertain significance Single submitter
- RIPK1 p.Ala220Val Uncertain significance Single submitter
- RIPK1 p.Ala270Val Uncertain significance Single submitter
- RIPK1 p.Ala313Val Uncertain significance Single submitter
- RIPK1 p.Ala382Gly Uncertain significance Single submitter
- RIPK1 p.Ala438Thr Uncertain significance Single submitter
- RIPK1 p.Ala569Ser Uncertain significance Single submitter
- RIPK1 p.Arg275Gln Uncertain significance Single submitter
- RIPK1 p.Arg275Trp Uncertain significance Single submitter
- RIPK1 p.Arg390Cys Uncertain significance Single submitter
- RIPK1 p.Arg390His Uncertain significance Single submitter
- RIPK1 p.Arg400Ser Uncertain significance Single submitter
- RIPK1 p.Arg411Lys Uncertain significance Single submitter
- RIPK1 p.Arg424Ile Uncertain significance Single submitter
-
RIPK1 p.Arg487Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- RIPK1 p.Arg491Gly Uncertain significance Single submitter
-
RIPK1 p.Arg491Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- RIPK1 p.Arg638Lys Uncertain significance Single submitter
- RIPK1 p.Arg74Gln Uncertain significance Single submitter
-
RIPK1 p.Asn202Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
RIPK1 p.Asn224Ser
Uncertain significance
Single submitter
immunodeficiency 57
- RIPK1 p.Asn310Ser Uncertain significance Single submitter
- RIPK1 p.Asn406Thr Uncertain significance Single submitter
- RIPK1 p.Asn466His Uncertain significance Single submitter
-
RIPK1 p.Asn509Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- RIPK1 p.Asn513Asp Uncertain significance Single submitter
- RIPK1 p.Asn52Lys Uncertain significance Single submitter
- RIPK1 p.Asn545Ser Uncertain significance Single submitter
-
RIPK1 p.Asn68Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- RIPK1 p.Asn8Asp Uncertain significance Single submitter
-
RIPK1 p.Asp138Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- RIPK1 p.Asp149Asn Uncertain significance Single submitter
-
RIPK1 p.Asp180His
Uncertain significance
Single submitter
Inborn genetic diseases
- RIPK1 p.Asp24Ala Uncertain significance Single submitter
-
RIPK1 p.Asp250His
Uncertain significance
Single submitter
Inborn genetic diseases
-
RIPK1 p.Asp300Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- RIPK1 p.Asp380Glu Uncertain significance Single submitter
- RIPK1 p.Asp392Asn Uncertain significance Single submitter
- RIPK1 p.Asp4Glu Uncertain significance Single submitter
- RIPK1 p.Asp558Glu Uncertain significance Single submitter
- RIPK1 p.Cys325Phe Uncertain significance Single submitter
- RIPK1 p.Cys325Tyr Uncertain significance Single submitter
- RIPK1 p.Gln236Pro Uncertain significance Single submitter
-
RIPK1 p.Gln319Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- RIPK1 p.Gln347Lys Uncertain significance Single submitter
- RIPK1 p.Gln397His Uncertain significance Single submitter
- RIPK1 p.Gln401His Uncertain significance Single submitter
- RIPK1 p.Glu107Gln Uncertain significance Single submitter
- RIPK1 p.Glu107Lys Uncertain significance Single submitter
- RIPK1 p.Glu19Asp Uncertain significance Single submitter
- RIPK1 p.Glu226Lys Uncertain significance Single submitter
- RIPK1 p.Glu254Gln Uncertain significance Single submitter
-
RIPK1 p.Glu298Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- RIPK1 p.Glu338Gln Uncertain significance Single submitter
-
RIPK1 p.Glu356Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- RIPK1 p.Glu408Lys Uncertain significance Single submitter
- RIPK1 p.Glu567Lys Uncertain significance Single submitter
- RIPK1 p.Glu63Asp Uncertain significance Single submitter
-
RIPK1 p.Glu96Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- RIPK1 p.Gly131Arg Uncertain significance Single submitter
- RIPK1 p.Gly131Glu Uncertain significance Single submitter
-
RIPK1 p.Gly181Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- RIPK1 p.Gly26Arg Uncertain significance Single submitter
- RIPK1 p.Gly280Asp Uncertain significance Single submitter
- RIPK1 p.Gly280Val Uncertain significance Single submitter
- RIPK1 p.Gly348Arg Uncertain significance Single submitter
- RIPK1 p.Gly454Arg Uncertain significance Single submitter
- RIPK1 p.Gly454Glu Uncertain significance Single submitter
- RIPK1 p.Gly475Val Uncertain significance Single submitter
- RIPK1 p.Gly485Arg Uncertain significance Single submitter
-
RIPK1 p.Gly98Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
RIPK1 p.His130Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- RIPK1 p.His130Pro Uncertain significance Single submitter
- RIPK1 p.His136Gln Uncertain significance Single submitter
- RIPK1 p.His344Arg Uncertain significance Single submitter
- RIPK1 p.His36Arg Uncertain significance Single submitter
- RIPK1 p.His417Arg Uncertain significance Single submitter
- RIPK1 p.His417Asn Uncertain significance Single submitter
-
RIPK1 p.His501Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- RIPK1 p.Ile144Val Uncertain significance Single submitter
- RIPK1 p.Ile232Thr Uncertain significance Single submitter
-
RIPK1 p.Ile241Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
RIPK1 p.Ile529Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- RIPK1 p.Ile529Val Uncertain significance Single submitter
- RIPK1 p.Ile549Thr Uncertain significance Single submitter
- RIPK1 p.Ile54Thr Uncertain significance Single submitter
- RIPK1 p.Ile575Val Uncertain significance Single submitter
-
RIPK1 p.Ile615Thr
Uncertain significance
Single submitter
inborn error of immunity
- RIPK1 p.Ile641Thr Uncertain significance Single submitter
-
RIPK1 p.Ile641Val
Uncertain significance
Single submitter
Inborn genetic diseases
- RIPK1 p.Ile82Val Uncertain significance Single submitter
- RIPK1 p.Ile83Thr Uncertain significance Single submitter
- RIPK1 p.Leu129Ser Uncertain significance Single submitter
- RIPK1 p.Leu266Val Uncertain significance Single submitter
- RIPK1 p.Leu304Ser Uncertain significance Single submitter
- RIPK1 p.Leu33Pro Uncertain significance Single submitter
Predictors split 34
The independent predictors disagree with each other — read with care.
-
RIPK1 p.Arg621Gln
Uncertain significance
Multiple submitters
immunodeficiency 57
-
RIPK1 p.Asp324His
Pathogenic
Multiple submitters
RIPK1-related disorder
- RIPK1 p.Glu381Lys Uncertain significance Multiple submitters
- RIPK1 p.Gly188Ser Uncertain significance Multiple submitters
-
RIPK1 p.Ile281Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RIPK1 p.Leu624Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RIPK1 p.Met67Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
- RIPK1 p.Pro111Leu Uncertain significance Multiple submitters
-
RIPK1 p.Pro272Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
- RIPK1 p.Ser331Arg Uncertain significance Multiple submitters
-
RIPK1 p.Asp618Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
RIPK1 p.Gln630His
Uncertain significance
Single submitter
Inborn genetic diseases
- RIPK1 p.Gly188Cys Uncertain significance Single submitter
- RIPK1 p.Gly640Ser Uncertain significance Single submitter
- RIPK1 p.His586Leu Uncertain significance Single submitter
-
RIPK1 p.His586Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- RIPK1 p.His617Arg Uncertain significance Single submitter
- RIPK1 p.His617Tyr Uncertain significance Single submitter
- RIPK1 p.Ile154Met Uncertain significance Single submitter
- RIPK1 p.Ile221Thr Uncertain significance Single submitter
- RIPK1 p.Ile533Thr Uncertain significance Single submitter
- RIPK1 p.Leu104Val Uncertain significance Single submitter
-
RIPK1 p.Leu624Met
Uncertain significance
Single submitter
Inborn genetic diseases
- RIPK1 p.Leu649Val Uncertain significance Single submitter
- RIPK1 p.Lys97Glu Uncertain significance Single submitter
- RIPK1 p.Met193Thr Uncertain significance Single submitter
- RIPK1 p.Met547Ile Uncertain significance Single submitter
- RIPK1 p.Met547Thr Uncertain significance Single submitter
- RIPK1 p.Met637Ile Uncertain significance Single submitter
- RIPK1 p.Phe285Leu Uncertain significance Single submitter
- RIPK1 p.Pro276Leu Uncertain significance Single submitter
- RIPK1 p.Tyr384His Uncertain significance Single submitter
- RIPK1 p.Val668Gly Uncertain significance Single submitter
-
RIPK1 p.Asp324Val
Pathogenic
No assertion criteria
autoinflammation with episodic fever and lymphadenopathy
All RIPK1 variants
Pathogenic 17
- p.Arg177fs Multiple submitters immunodeficiency 57
- p.Asp324Asn Multiple submitters autoinflammation with episodic fever and lymphadenopathy ⚠
- p.Asp324His Multiple submitters RIPK1-related disorder ⚠
- p.Cys601fs Single submitter hereditary breast ovarian cancer syndrome
- p.Glu259Ter Single submitter
- p.Glu63Ter Single submitter
- p.His130fs Single submitter
- p.Leu190fs Single submitter
- p.Pro515fs Single submitter
- p.Tyr544Ter Single submitter
- c.460-133_689-244del No assertion criteria immunodeficiency 57
- c.688_688+20del No assertion criteria immunodeficiency 57
- p.Asp324Tyr No assertion criteria autoinflammation with episodic fever and lymphadenopathy
- p.Asp324Val No assertion criteria autoinflammation with episodic fever and lymphadenopathy ⚠
- p.Cys601Tyr No assertion criteria IL10-related early-onset inflammatory bowel disease
- p.Phe288_Tyr289insTer No assertion criteria immunodeficiency 57
- p.Tyr426Ter No assertion criteria IL10-related early-onset inflammatory bowel disease
Pathogenic/Likely pathogenic 1
- p.Met318fs No assertion criteria IL10-related early-onset inflammatory bowel disease
Likely pathogenic 10
- c.1576+2T>G Single submitter
- c.1577-1G>A Single submitter
- c.322-1G>C Single submitter
- c.688+2T>C Single submitter RIPK1-related disorder
- c.688+2T>G Single submitter immunodeficiency 57
- c.915+1G>A Single submitter
- p.Arg487fs Single submitter
- p.Arg591fs Single submitter immunodeficiency 57
- p.Asp324Gly Single submitter Inborn genetic diseases
- p.His344fs Single submitter RIPK1-related disorder
Conflicting classifications of pathogenicity 21
- c.1730-15T>C Single submitter
- p.Ala203Ser Single submitter autoinflammation with episodic fever and lymphadenopathy ⚠
- p.Arg413His Single submitter immunodeficiency 57 ⚠
- p.Arg621Ter Single submitter RIPK1-related disorder
- p.Asn561fs Single submitter immunodeficiency 57
- p.Cys656Arg Single submitter immunodeficiency 57 ⚠
- p.Gln398His Single submitter immunodeficiency 57 ⚠
- p.Glu311Lys Single submitter Inborn genetic diseases ⚠
- p.Gly181Ser Single submitter Inborn genetic diseases ⚠
- p.Gly341Ser Single submitter Inborn genetic diseases ⚠
- p.His445Gln Single submitter immunodeficiency 57 ⚠
- p.His501Tyr Single submitter Inborn genetic diseases ⚠
- p.Ile612Thr Single submitter immunodeficiency 57 ⚠
- p.Leu349Pro Single submitter Inborn genetic diseases ⚠
- p.Ser14Ala Single submitter ⚠
- p.Ser520Thr Single submitter Inborn genetic diseases ⚠
- p.Ser664Asn Single submitter Inborn genetic diseases ⚠
- p.Thr395Met Single submitter Inborn genetic diseases ⚠
- p.Thr552Met Single submitter ⚠
- p.Thr645Met Single submitter autoinflammation with episodic fever and lymphadenopathy ⚠
- p.Val668Ile Single submitter Inborn genetic diseases ⚠
Benign 6
- p.Leu237= Multiple submitters
- p.Phe28= Multiple submitters autoinflammation with episodic fever and lymphadenopathy
- c.164+14del Single submitter
- c.321+97C>A Single submitter
- c.-16G>A Single submitter
- c.-17C>T Single submitter
Benign/Likely benign 7
- c.1576+15G>A Multiple submitters
- c.689-16A>C Multiple submitters
- p.Ala569= Multiple submitters
- p.Ala569Val Multiple submitters
- p.Glu234Lys Multiple submitters
- p.Leu343= Multiple submitters
- p.Pro361= Multiple submitters
Likely benign 190
- c.688+16C>T Multiple submitters
- c.689-15G>A Multiple submitters
- c.838+12T>A Multiple submitters
- p.Ala194= Multiple submitters
- p.Ala220= Multiple submitters
- p.Ala652= Multiple submitters
- p.Arg413= Multiple submitters
- p.Arg424= Multiple submitters
- p.Asn310= Multiple submitters
- p.Asn509= Multiple submitters
- p.Asp300= Multiple submitters
- p.Asp324= Multiple submitters
- p.Gly133= Multiple submitters
- p.Gly50= Multiple submitters
- p.His365= Multiple submitters
- p.His56= Multiple submitters
- p.Leu594= Multiple submitters
- p.Leu624= Multiple submitters
- p.Pro272= Multiple submitters
- p.Pro276= Multiple submitters
- p.Ser14= Multiple submitters
- p.Ser296= Multiple submitters
- p.Thr395= Multiple submitters
- p.Thr608= Multiple submitters
- p.Tyr426= Multiple submitters
- p.Val314= Multiple submitters
- c.1006+13A>G Single submitter
- c.1006+16G>A Single submitter
- c.1006+18C>A Single submitter
- c.1007-11T>C Single submitter
- c.1007-13C>T Single submitter
- c.1007-16G>A Single submitter
- c.1007-17T>C Single submitter
- c.1576+14C>T Single submitter
- c.1576+15G>T Single submitter
- c.1576+7G>C Single submitter
- c.1576+9G>A Single submitter
- c.1577-10C>T Single submitter
- c.1577-18G>A Single submitter
- c.1577-18G>C Single submitter
- c.164+10G>A Single submitter
- c.164+19T>C Single submitter
- c.165-16C>T Single submitter
- c.165-6C>T Single submitter
- c.165-9T>G Single submitter
- c.1729+11C>T Single submitter
- c.1729+11del Single submitter
- c.1729+18G>T Single submitter
- c.1729+9C>A Single submitter
- c.1730-11C>A Single submitter
- c.1730-16T>G Single submitter
- c.1730-9A>G Single submitter
- c.321+12C>T Single submitter
- c.321+13_321+14del Single submitter
- c.321+13C>G Single submitter
- c.321+14C>T Single submitter
- c.321+14del Single submitter
- c.321+17C>T Single submitter
- c.321+19_321+22dup Single submitter
- c.321+20A>T Single submitter
- c.321+8G>C Single submitter
- c.322-10C>A Single submitter
- c.322-14A>G Single submitter
- c.322-14A>T Single submitter
- c.322-4T>C Single submitter
- c.459+10C>G Single submitter
- c.459+13C>T Single submitter
- c.459+14G>A Single submitter
- c.460-17del Single submitter
- c.460-18G>C Single submitter
- c.460-5C>T Single submitter
- c.688+15_688+17del Single submitter
- c.689-10T>C Single submitter
- c.838+13T>C Single submitter
- c.838+20C>A Single submitter
- c.838+7G>C Single submitter
- c.838+8dup Single submitter
- c.838+9A>C Single submitter
- c.839-15A>C Single submitter
- c.839-16C>T Single submitter
- c.839-17A>T Single submitter
- c.839-19G>A Single submitter
- c.839-5T>C Single submitter
- c.915+1166_915+1196del Single submitter
- c.915+19G>A Single submitter
- c.915+9T>C Single submitter
- c.916-13C>T Single submitter
- c.916-20A>G Single submitter
- p.Ala106= Single submitter
- p.Ala183= Single submitter
- p.Ala270= Single submitter
- p.Ala404= Single submitter
- p.Ala448= Single submitter
- p.Ala59Pro Single submitter autoinflammation with episodic fever and lymphadenopathy
- p.Ala64= Single submitter
- p.Ala644= Single submitter
- p.Arg317= Single submitter
- p.Arg621= Single submitter
- p.Asn170= Single submitter
- p.Asn186= Single submitter
- p.Asn202= Single submitter
- p.Asn447= Single submitter
- p.Asn535= Single submitter
- p.Asn57= Single submitter
- p.Asp180= Single submitter
- p.Asp200= Single submitter
- p.Asp248= Single submitter
- p.Asp250= Single submitter
- p.Asp251= Single submitter
- p.Asp380= Single submitter
- p.Cys127= Single submitter
- p.Cys256= Single submitter
- p.Gln39= Single submitter
- p.Gln609= Single submitter
- p.Gln630= Single submitter
- p.Glu207= Single submitter
- p.Glu355= Single submitter
- p.Glu356= Single submitter
- p.Glu369= Single submitter
- p.Glu62= Single submitter
- p.Gly187= Single submitter
- p.Gly26= Single submitter
- p.Gly280= Single submitter
- p.Gly434= Single submitter
- p.Gly538= Single submitter
- p.Gly606= Single submitter
- p.Gly80= Single submitter
- p.His102= Single submitter
- p.His197= Single submitter
- p.His344= Single submitter
- p.His450= Single submitter
- p.His501= Single submitter
- p.Leu104= Single submitter
- p.Leu157= Single submitter
- p.Leu168= Single submitter
- p.Leu33= Single submitter
- p.Leu468= Single submitter
- p.Leu500= Single submitter
- p.Leu557= Single submitter
- p.Leu632= Single submitter
- p.Leu649= Single submitter
- p.Leu79= Single submitter
- p.Leu90= Single submitter
- p.Lys140= Single submitter
- p.Lys163= Single submitter
- p.Lys65= Single submitter
- p.Lys97= Single submitter
- p.Phe564= Single submitter
- p.Pro111= Single submitter
- p.Pro195= Single submitter
- p.Pro247= Single submitter
- p.Pro287= Single submitter
- p.Pro494= Single submitter
- p.Ser166= Single submitter
- p.Ser243= Single submitter
- p.Ser25= Single submitter
- p.Ser320= Single submitter
- p.Ser663= Single submitter
- p.Ser664= Single submitter
- p.Ser89= Single submitter
- p.Thr182= Single submitter
- p.Thr206= Single submitter
- p.Thr38= Single submitter
- p.Thr437= Single submitter
- p.Thr508= Single submitter
- p.Thr516= Single submitter
- p.Thr552= Single submitter
- p.Thr562= Single submitter
- p.Thr583= Single submitter
- p.Thr645= Single submitter
- p.Tyr128= Single submitter
- p.Tyr191= Single submitter
- p.Tyr192= Single submitter
- p.Tyr212= Single submitter
- p.Tyr439= Single submitter
- p.Tyr469= Single submitter
- p.Tyr48= Single submitter
- p.Tyr531= Single submitter
- p.Tyr546= Single submitter
- p.Tyr667= Single submitter
- p.Val103= Single submitter
- p.Val146= Single submitter
- p.Val216= Single submitter
- p.Val354= Single submitter
- p.Val449= Single submitter
- p.Val646= Single submitter
- p.Val75= Single submitter
- p.Val76= Single submitter
- p.Val81= Single submitter
- p.Val9= Single submitter
Uncertain significance 328
Showing the top 300 by review status; the full set is in the sitemap.
- c.460-5C>A Multiple submitters immunodeficiency 57
- p.Ala106Val Multiple submitters ⚠
- p.Ala160Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala194Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala203Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala220Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala404Ser Multiple submitters ⚠
- p.Ala64Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala652Val Multiple submitters ⚠
- p.Arg258Gly Multiple submitters Inborn genetic diseases ⚠
- p.Arg332Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg332Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg412Ser Multiple submitters Inborn genetic diseases ⚠
- p.Arg413Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg424Gly Multiple submitters Inborn genetic diseases ⚠
- p.Arg603His Multiple submitters Inborn genetic diseases ⚠
- p.Arg621Gln Multiple submitters immunodeficiency 57 ⚠
- p.Arg71Thr Multiple submitters Inborn genetic diseases ⚠
- p.Asn174Thr Multiple submitters ⚠
- p.Asn52Ser Multiple submitters Inborn genetic diseases ⚠
- p.Asn545Thr Multiple submitters
- p.Asp138Tyr Multiple submitters Inborn genetic diseases ⚠
- p.Gln375Lys Multiple submitters immunodeficiency 57
- p.Glu371Gly Multiple submitters ⚠
- p.Glu381Lys Multiple submitters ⚠
- p.Glu567Asp Multiple submitters Inborn genetic diseases ⚠
- p.Glu58Lys Multiple submitters ⚠
- p.Gly158Ser Multiple submitters Inborn genetic diseases ⚠
- p.Gly188Ser Multiple submitters ⚠
- p.Gly341Asp Multiple submitters ⚠
- p.Gly348Val Multiple submitters ⚠
- p.Gly538Ser Multiple submitters Inborn genetic diseases ⚠
- p.Gly98Asp Multiple submitters ⚠
- p.His136Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ile123Thr Multiple submitters autoinflammation with episodic fever and lymphadenopathy ⚠
- p.Ile281Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ile43Phe Multiple submitters
- p.Ile533Met Multiple submitters Inborn genetic diseases ⚠
- p.Ile549Met Multiple submitters ⚠
- p.Leu349Arg Multiple submitters Inborn genetic diseases ⚠
- p.Leu374Val Multiple submitters Inborn genetic diseases ⚠
- p.Leu60Val Multiple submitters Inborn genetic diseases ⚠
- p.Leu624Pro Multiple submitters Inborn genetic diseases ⚠
- p.Lys137Arg Multiple submitters Inborn genetic diseases ⚠
- p.Lys185del Multiple submitters
- p.Lys77Asn Multiple submitters Inborn genetic diseases ⚠
- p.Met42Ile Multiple submitters ⚠
- p.Met67Ile Multiple submitters Inborn genetic diseases ⚠
- p.Phe28Leu Multiple submitters immunodeficiency 57 ⚠
- p.Phe564Cys Multiple submitters Inborn genetic diseases ⚠
- p.Pro111Leu Multiple submitters ⚠
- p.Pro272Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro419Ser Multiple submitters Inborn genetic diseases
- p.Pro486Ser Multiple submitters Inborn genetic diseases ⚠
- p.Pro506Arg Multiple submitters ⚠
- p.Pro515Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ser166Arg Multiple submitters Inborn genetic diseases ⚠
- p.Ser331Arg Multiple submitters ⚠
- p.Ser536Thr Multiple submitters RIPK1-related disorder ⚠
- p.Thr182Ala Multiple submitters Inborn genetic diseases ⚠
- p.Thr514Ile Multiple submitters Inborn genetic diseases ⚠
- p.Thr583Met Multiple submitters Inborn genetic diseases ⚠
- p.Tyr469Cys Multiple submitters Inborn genetic diseases ⚠
- p.Tyr531His Multiple submitters Inborn genetic diseases ⚠
- p.Val103Met Multiple submitters Inborn genetic diseases ⚠
- p.Val301Met Multiple submitters RIPK1-related disorder ⚠
- p.Val636Met Multiple submitters Inborn genetic diseases ⚠
- p.Val81Ile Multiple submitters ⚠
- c.1006+5A>C Single submitter
- c.1577-5T>A Single submitter
- c.165-3C>T Single submitter
- c.321+3A>G Single submitter
- c.321+3dup Single submitter
- c.321+4G>A Single submitter
- c.459+6C>T Single submitter
- c.460-13_460-12del Single submitter
- c.689-9G>C Single submitter
- c.838+4A>G Single submitter
- c.839-3C>T Single submitter
- c.915+4G>A Single submitter
- c.915+6C>G Single submitter
- p.Ala155Gly Single submitter immunodeficiency 57 ⚠
- p.Ala155Thr Single submitter
- p.Ala220Pro Single submitter ⚠
- p.Ala220Val Single submitter ⚠
- p.Ala270Val Single submitter ⚠
- p.Ala313Val Single submitter ⚠
- p.Ala336= Single submitter
- p.Ala382Gly Single submitter ⚠
- p.Ala438Thr Single submitter ⚠
- p.Ala569Ser Single submitter ⚠
- p.Ala602fs Single submitter
- p.Arg275Gln Single submitter ⚠
- p.Arg275Trp Single submitter ⚠
- p.Arg390Cys Single submitter ⚠
- p.Arg390His Single submitter ⚠
- p.Arg400Ser Single submitter ⚠
- p.Arg411Lys Single submitter ⚠
- p.Arg424Ile Single submitter ⚠
- p.Arg487Ser Single submitter Inborn genetic diseases ⚠
- p.Arg491Gly Single submitter ⚠
- p.Arg491Ser Single submitter Inborn genetic diseases ⚠
- p.Arg638Lys Single submitter ⚠
- p.Arg74Gln Single submitter ⚠
- p.Arg74Trp Single submitter Inborn genetic diseases
- p.Asn143_Ile144insGluAsn Single submitter
- p.Asn202Ser Single submitter Inborn genetic diseases ⚠
- p.Asn224Ser Single submitter immunodeficiency 57 ⚠
- p.Asn310Ser Single submitter ⚠
- p.Asn406Thr Single submitter ⚠
- p.Asn466His Single submitter ⚠
- p.Asn509Ser Single submitter Inborn genetic diseases ⚠
- p.Asn513Asp Single submitter ⚠
- p.Asn52Lys Single submitter ⚠
- p.Asn545Ser Single submitter ⚠
- p.Asn68Lys Single submitter Inborn genetic diseases ⚠
- p.Asn8Asp Single submitter ⚠
- p.Asp138Glu Single submitter Inborn genetic diseases ⚠
- p.Asp149Asn Single submitter ⚠
- p.Asp180His Single submitter Inborn genetic diseases ⚠
- p.Asp24Ala Single submitter ⚠
- p.Asp24Val Single submitter
- p.Asp250His Single submitter Inborn genetic diseases ⚠
- p.Asp300Asn Single submitter Inborn genetic diseases ⚠
- p.Asp324Glu Single submitter
- p.Asp380Glu Single submitter ⚠
- p.Asp392Asn Single submitter ⚠
- p.Asp4Glu Single submitter ⚠
- p.Asp558Glu Single submitter ⚠
- p.Asp618Asn Single submitter Inborn genetic diseases ⚠
- p.Asp660Asn Single submitter
- p.Cys325Arg Single submitter
- p.Cys325Phe Single submitter ⚠
- p.Cys325Trp Single submitter
- p.Cys325Tyr Single submitter ⚠
- p.Gln236Pro Single submitter ⚠
- p.Gln292= Single submitter
- p.Gln319Lys Single submitter Inborn genetic diseases ⚠
- p.Gln347Lys Single submitter ⚠
- p.Gln397His Single submitter ⚠
- p.Gln401His Single submitter ⚠
- p.Gln630His Single submitter Inborn genetic diseases ⚠
- p.Gln651Ter Single submitter
- p.Glu107Gln Single submitter ⚠
- p.Glu107Lys Single submitter ⚠
- p.Glu19Asp Single submitter ⚠
- p.Glu226Lys Single submitter ⚠
- p.Glu254Gln Single submitter ⚠
- p.Glu298Lys Single submitter Inborn genetic diseases ⚠
- p.Glu338Gln Single submitter ⚠
- p.Glu356Asp Single submitter Inborn genetic diseases ⚠
- p.Glu369del Single submitter
- p.Glu408Lys Single submitter ⚠
- p.Glu410del Single submitter
- p.Glu567Lys Single submitter ⚠
- p.Glu620Lys Single submitter
- p.Glu63Asp Single submitter ⚠
- p.Glu84Asp Single submitter
- p.Glu96Asp Single submitter Inborn genetic diseases ⚠
- p.Gly131Arg Single submitter ⚠
- p.Gly131Glu Single submitter ⚠
- p.Gly181Asp Single submitter Inborn genetic diseases ⚠
- p.Gly188Cys Single submitter ⚠
- p.Gly244Arg Single submitter
- p.Gly26Arg Single submitter ⚠
- p.Gly280Asp Single submitter ⚠
- p.Gly280Val Single submitter ⚠
- p.Gly29Arg Single submitter
- p.Gly348Arg Single submitter ⚠
- p.Gly454Arg Single submitter ⚠
- p.Gly454Glu Single submitter ⚠
- p.Gly475Val Single submitter ⚠
- p.Gly485Arg Single submitter ⚠
- p.Gly640Ser Single submitter ⚠
- p.Gly98Ser Single submitter Inborn genetic diseases ⚠
- p.His130Leu Single submitter Inborn genetic diseases ⚠
- p.His130Pro Single submitter ⚠
- p.His136Gln Single submitter ⚠
- p.His344Arg Single submitter ⚠
- p.His36Arg Single submitter ⚠
- p.His417Arg Single submitter ⚠
- p.His417Asn Single submitter ⚠
- p.His501Arg Single submitter Inborn genetic diseases ⚠
- p.His586Leu Single submitter ⚠
- p.His586Tyr Single submitter Inborn genetic diseases ⚠
- p.His617Arg Single submitter ⚠
- p.His617Tyr Single submitter ⚠
- p.Ile144Val Single submitter ⚠
- p.Ile154Met Single submitter ⚠
- p.Ile221Thr Single submitter ⚠
- p.Ile232Thr Single submitter ⚠
- p.Ile241Val Single submitter Inborn genetic diseases ⚠
- p.Ile529Thr Single submitter Inborn genetic diseases ⚠
- p.Ile529Val Single submitter ⚠
- p.Ile533Thr Single submitter ⚠
- p.Ile549Thr Single submitter ⚠
- p.Ile54Thr Single submitter ⚠
- p.Ile575Ser Single submitter
- p.Ile575Val Single submitter ⚠
- p.Ile615Thr Single submitter inborn error of immunity ⚠
- p.Ile641Thr Single submitter ⚠
- p.Ile641Val Single submitter Inborn genetic diseases ⚠
- p.Ile82Val Single submitter ⚠
- p.Ile83Thr Single submitter ⚠
- p.Leu104Val Single submitter ⚠
- p.Leu129Ser Single submitter ⚠
- p.Leu266Val Single submitter ⚠
- p.Leu304Ser Single submitter ⚠
- p.Leu321Arg Single submitter
- p.Leu33Pro Single submitter ⚠
- p.Leu363Val Single submitter Inborn genetic diseases ⚠
- p.Leu462Arg Single submitter Inborn genetic diseases ⚠
- p.Leu557del Single submitter
- p.Leu624Met Single submitter Inborn genetic diseases ⚠
- p.Leu649Pro Single submitter ⚠
- p.Leu649Val Single submitter ⚠
- p.Leu70Val Single submitter
- p.Lys132Asn Single submitter ⚠
- p.Lys140Met Single submitter ⚠
- p.Lys163Met Single submitter ⚠
- p.Lys185Asn Single submitter ⚠
- p.Lys242Asn Single submitter ⚠
- p.Lys396Glu Single submitter ⚠
- p.Lys396Thr Single submitter Inborn genetic diseases ⚠
- p.Lys571Asn Single submitter ⚠
- p.Lys604Gln Single submitter ⚠
- p.Lys642Thr Single submitter ⚠
- p.Lys97Arg Single submitter ⚠
- p.Lys97Asn Single submitter ⚠
- p.Lys97Glu Single submitter ⚠
- p.Met164Thr Single submitter ⚠
- p.Met193Leu Single submitter ⚠
- p.Met193Thr Single submitter ⚠
- p.Met193Val Single submitter ⚠
- p.Met1Lys Single submitter
- p.Met1Val Single submitter
- p.Met239Lys Single submitter ⚠
- p.Met44Leu Single submitter ⚠
- p.Met497Ile Single submitter ⚠
- p.Met517Ile Single submitter ⚠
- p.Met547Ile Single submitter ⚠
- p.Met547Thr Single submitter ⚠
- p.Met5Ile Single submitter ⚠
- p.Met631Ile Single submitter ⚠
- p.Met637Ile Single submitter ⚠
- p.Phe162Ser Single submitter ⚠
- p.Phe222Ser Single submitter immunodeficiency 57 ⚠
- p.Phe278Tyr Single submitter ⚠
- p.Phe285Leu Single submitter ⚠
- p.Phe285Tyr Single submitter Inborn genetic diseases ⚠
- p.Phe288Tyr Single submitter ⚠
- p.Phe564Leu Single submitter ⚠
- p.Pro141Ala Single submitter
- p.Pro227Thr Single submitter ⚠
- p.Pro276Arg Single submitter Inborn genetic diseases ⚠
- p.Pro276Leu Single submitter ⚠
- p.Pro361Leu Single submitter ⚠
- p.Pro372Ser Single submitter ⚠
- p.Pro425Leu Single submitter ⚠
- p.Pro425Ser Single submitter ⚠
- p.Pro452Leu Single submitter ⚠
- p.Pro459Ser Single submitter ⚠
- p.Pro478Thr Single submitter ⚠
- p.Pro492Arg Single submitter ⚠
- p.Pro51Ser Single submitter ⚠
- p.Pro524Leu Single submitter ⚠
- p.Pro589Ala Single submitter ⚠
- p.Ser109Asn Single submitter ⚠
- p.Ser14Phe Single submitter ⚠
- p.Ser14Tyr Single submitter Inborn genetic diseases ⚠
- p.Ser166Gly Single submitter ⚠
- p.Ser296Arg Single submitter ⚠
- p.Ser303Asn Single submitter ⚠
- p.Ser303Thr Single submitter ⚠
- p.Ser32Phe Single submitter ⚠
- p.Ser346Pro Single submitter Inborn genetic diseases
- p.Ser376Asn Single submitter Inborn genetic diseases ⚠
- p.Ser441Asn Single submitter ⚠
- p.Ser441Ile Single submitter ⚠
- p.Ser444Cys Single submitter ⚠
- p.Ser499Thr Single submitter ⚠
- p.Ser657Cys Single submitter Inborn genetic diseases ⚠
- p.Ter672ProextTer? Single submitter
- p.Thr182Ser Single submitter ⚠
- p.Thr206Ile Single submitter
- p.Thr253Ile Single submitter ⚠
- p.Thr337Ile Single submitter ⚠
- p.Thr395Lys Single submitter ⚠
- p.Thr476Arg Single submitter ⚠
- p.Thr514Arg Single submitter ⚠
- p.Thr516Ile Single submitter ⚠
- p.Thr532Asn Single submitter ⚠
- p.Thr532Ile Single submitter ⚠
- p.Thr537Ala Single submitter ⚠
- p.Thr537Ile Single submitter ⚠
- p.Thr537Pro Single submitter ⚠
- p.Thr562Met Single submitter ⚠
- p.Trp219Cys Single submitter ⚠
- p.Trp358Gly Single submitter ⚠
- p.Tyr192Asn Single submitter ⚠