IRAK1 — 122 ClinVar variants
All ClinVar germline IRAK1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 61 flagged for review →
5 Conflicting · 7 Benign · 2 Benign/Likely benign · 45 Likely benign · 63 Uncertain significance
Full IRAK1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 61
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors agree, ClinVar conflicts 5
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 53
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- IRAK1 p.Ala12Ser Uncertain significance Single submitter
- IRAK1 p.Ala165Val Uncertain significance Single submitter
- IRAK1 p.Ala175Asp Uncertain significance Single submitter
- IRAK1 p.Ala237Ser Uncertain significance Single submitter
- IRAK1 p.Ala323Val Uncertain significance Single submitter
- IRAK1 p.Ala40Ser Uncertain significance Single submitter
- IRAK1 p.Ala558Thr Uncertain significance Single submitter
- IRAK1 p.Ala559Thr Uncertain significance Single submitter
- IRAK1 p.Arg133Gln Uncertain significance Single submitter
-
IRAK1 p.Arg380Trp
Uncertain significance
Single submitter
cleft palate
- IRAK1 p.Arg600Cys Uncertain significance Single submitter
- IRAK1 p.Arg638Trp Uncertain significance Single submitter
- IRAK1 p.Cys199Phe Uncertain significance Single submitter
- IRAK1 p.Cys302Ser Uncertain significance Single submitter
- IRAK1 p.Cys608Phe Uncertain significance Single submitter
- IRAK1 p.Cys608Tyr Uncertain significance Single submitter
- IRAK1 p.Glu443Gly Uncertain significance Single submitter
- IRAK1 p.Glu488Gly Uncertain significance Single submitter
- IRAK1 p.Glu9Ala Uncertain significance Single submitter
- IRAK1 p.Gly159Asp Uncertain significance Single submitter
- IRAK1 p.Gly219Arg Uncertain significance Single submitter
- IRAK1 p.Gly282Ser Uncertain significance Single submitter
- IRAK1 p.Gly530Arg Uncertain significance Single submitter
- IRAK1 p.Gly696Asp Uncertain significance Single submitter
- IRAK1 p.His210Tyr Uncertain significance Single submitter
- IRAK1 p.Ile473Met Uncertain significance Single submitter
- IRAK1 p.Ile473Phe Uncertain significance Single submitter
- IRAK1 p.Leu491Pro Uncertain significance Single submitter
- IRAK1 p.Leu578Gln Uncertain significance Single submitter
- IRAK1 p.Leu692Val Uncertain significance Single submitter
- IRAK1 p.Lys180Gln Uncertain significance Single submitter
- IRAK1 p.Lys432Glu Uncertain significance Single submitter
- IRAK1 p.Lys668Arg Uncertain significance Single submitter
- IRAK1 p.Pro109Ser Uncertain significance Single submitter
- IRAK1 p.Pro132Leu Uncertain significance Single submitter
- IRAK1 p.Pro136Arg Uncertain significance Single submitter
- IRAK1 p.Pro148Leu Uncertain significance Single submitter
- IRAK1 p.Pro162Ser Uncertain significance Single submitter
- IRAK1 p.Pro172Leu Uncertain significance Single submitter
- IRAK1 p.Pro174Ala Uncertain significance Single submitter
- IRAK1 p.Pro487Ala Uncertain significance Single submitter
- IRAK1 p.Pro487Arg Uncertain significance Single submitter
- IRAK1 p.Pro635Arg Uncertain significance Single submitter
- IRAK1 p.Pro658Leu Uncertain significance Single submitter
- IRAK1 p.Ser110Tyr Uncertain significance Single submitter
- IRAK1 p.Ser370Cys Uncertain significance Single submitter
- IRAK1 p.Ser371Arg Uncertain significance Single submitter
- IRAK1 p.Ser630Arg Uncertain significance Single submitter
- IRAK1 p.Ser691Phe Uncertain significance Single submitter
- IRAK1 p.Thr141Pro Uncertain significance Single submitter
- IRAK1 p.Thr640Ile Uncertain significance Single submitter
- IRAK1 p.Trp561Arg Uncertain significance Single submitter
-
IRAK1 p.Trp130Cys
Uncertain significance
No assertion criteria
IRAK1-related disorder
Predictors split 3
The independent predictors disagree with each other — read with care.
All IRAK1 variants
Conflicting classifications of pathogenicity 5
- p.Ala125Thr Single submitter ⚠
- p.Ile121Val Single submitter ⚠
- p.Ser177Phe Single submitter ⚠
- p.Thr152Ser Single submitter ⚠
- p.Val642Met Single submitter ⚠
Benign 7
- p.Arg194His Multiple submitters
- p.Cys203Ser Multiple submitters
- c.2080+91G>A Single submitter
- p.Arg600His Single submitter
- p.Phe196Ser Single submitter
- p.Ser532Leu Single submitter
- p.Val161= Single submitter
Benign/Likely benign 2
- p.Ala368= Multiple submitters
- p.Thr625Met Multiple submitters
Likely benign 45
- p.Gly369Glu Multiple submitters
- p.Gly619Ser Multiple submitters
- p.Pro542= Multiple submitters
- p.Ser376= Multiple submitters
- c.1237-10C>T Single submitter
- c.1303-16A>G Single submitter
- c.136+20C>T Single submitter
- c.137-19G>A Single submitter
- c.137-8C>T Single submitter
- c.1539+12C>T Single submitter
- c.1540-18C>T Single submitter
- c.1930+15G>A Single submitter
- c.2080+8C>T Single submitter
- c.2081-16C>T Single submitter
- c.540+19C>T Single submitter
- c.794+13G>T Single submitter
- p.Ala618= Single submitter
- p.Arg366Cys Single submitter
- p.Arg380= Single submitter
- p.Glu261= Single submitter
- p.Gly112Ser Single submitter
- p.Gly632= Single submitter
- p.Leu158= Single submitter
- p.Leu496= Single submitter
- p.Leu599= Single submitter
- p.Pro171= Single submitter
- p.Pro197= Single submitter
- p.Pro529= Single submitter
- p.Pro567= Single submitter
- p.Ser311= Single submitter
- p.Ser653Leu Single submitter
- p.Thr113Ile Single submitter
- p.Thr258= Single submitter
- p.Thr426= Single submitter
- p.Thr426Met Single submitter
- p.Thr640= Single submitter
- p.Val548Met Single submitter
- c.137-8C>A No assertion criteria IRAK1-related disorder
- c.729+10G>A No assertion criteria IRAK1-related disorder
- c.909+9A>G No assertion criteria IRAK1-related disorder
- p.Arg366= No assertion criteria IRAK1-related disorder
- p.Lys242= No assertion criteria IRAK1-related disorder
- p.Ser213= No assertion criteria IRAK1-related disorder
- p.Ser264= No assertion criteria
- p.Tyr547= No assertion criteria IRAK1-related disorder
Uncertain significance 63
- c.1303-2A>G Single submitter
- p.Ala12Ser Single submitter ⚠
- p.Ala165Val Single submitter ⚠
- p.Ala175Asp Single submitter ⚠
- p.Ala237Ser Single submitter ⚠
- p.Ala323Val Single submitter ⚠
- p.Ala40Ser Single submitter ⚠
- p.Ala423Ser Single submitter
- p.Ala470Thr Single submitter ⚠
- p.Ala558Thr Single submitter ⚠
- p.Ala559Thr Single submitter ⚠
- p.Arg133Gln Single submitter ⚠
- p.Arg380Pro Single submitter
- p.Arg380Trp Single submitter cleft palate ⚠
- p.Arg600Cys Single submitter ⚠
- p.Arg638Trp Single submitter ⚠
- p.Cys199Phe Single submitter ⚠
- p.Cys302Ser Single submitter ⚠
- p.Cys608Phe Single submitter ⚠
- p.Cys608Tyr Single submitter ⚠
- p.Gln577Ter Single submitter
- p.Glu443Gly Single submitter ⚠
- p.Glu488Gly Single submitter ⚠
- p.Glu9Ala Single submitter ⚠
- p.Gly159Asp Single submitter ⚠
- p.Gly219Arg Single submitter ⚠
- p.Gly282Ser Single submitter ⚠
- p.Gly420Ser Single submitter
- p.Gly530Arg Single submitter ⚠
- p.Gly696Asp Single submitter ⚠
- p.His210Tyr Single submitter ⚠
- p.Ile473Met Single submitter ⚠
- p.Ile473Phe Single submitter ⚠
- p.Leu491Pro Single submitter ⚠
- p.Leu578Gln Single submitter ⚠
- p.Leu692Val Single submitter ⚠
- p.Lys180Gln Single submitter ⚠
- p.Lys432Glu Single submitter ⚠
- p.Lys668Arg Single submitter ⚠
- p.Pro109Ser Single submitter ⚠
- p.Pro132Leu Single submitter ⚠
- p.Pro136Arg Single submitter ⚠
- p.Pro148Leu Single submitter ⚠
- p.Pro162Ser Single submitter ⚠
- p.Pro172Leu Single submitter ⚠
- p.Pro174Ala Single submitter ⚠
- p.Pro487Ala Single submitter ⚠
- p.Pro487Arg Single submitter ⚠
- p.Pro509Leu Single submitter
- p.Pro635Arg Single submitter ⚠
- p.Pro658Leu Single submitter ⚠
- p.Ser110Tyr Single submitter ⚠
- p.Ser370Cys Single submitter ⚠
- p.Ser371Arg Single submitter ⚠
- p.Ser630Arg Single submitter ⚠
- p.Ser691Phe Single submitter ⚠
- p.Ser707Asn Single submitter ⚠
- p.Thr141Pro Single submitter ⚠
- p.Thr398Met Single submitter ⚠
- p.Thr640Ile Single submitter ⚠
- p.Trp561Arg Single submitter ⚠
- p.Gly399Arg No assertion criteria IRAK1-related disorder
- p.Trp130Cys No assertion criteria IRAK1-related disorder ⚠