SYK — 98 ClinVar variants
All ClinVar germline SYK variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 48 flagged for review →
1 Pathogenic · 2 Likely pathogenic · 2 Conflicting · 26 Benign · 3 Benign/Likely benign · 16 Likely benign · 48 Uncertain significance
Full SYK gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 48
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.
-
SYK p.Met450Ile
Likely pathogenic
Single submitter
Decreased circulating immunoglobulin concentration
Predictors agree, ClinVar conflicts 2
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 31
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
SYK p.Ala282Pro
Uncertain significance
Single submitter
immunodeficiency 82 with systemic inflammation
- SYK p.Ala282Val Uncertain significance Single submitter
- SYK p.Ala2Thr Uncertain significance Single submitter
- SYK p.Ala412Thr Uncertain significance Single submitter
- SYK p.Ala540Thr Uncertain significance Single submitter
- SYK p.Ala583Thr Uncertain significance Single submitter
- SYK p.Arg22Trp Uncertain significance Single submitter
- SYK p.Arg273His Uncertain significance Single submitter
- SYK p.Arg313Gln Uncertain significance Single submitter
- SYK p.Arg359Lys Uncertain significance Single submitter
- SYK p.Asn108Asp Uncertain significance Single submitter
- SYK p.Asp612Asn Uncertain significance Single submitter
- SYK p.Gly618Val Uncertain significance Single submitter
- SYK p.Ile20Val Uncertain significance Single submitter
- SYK p.Ile290Val Uncertain significance Single submitter
- SYK p.Ile472Val Uncertain significance Single submitter
- SYK p.Leu103Arg Uncertain significance Single submitter
- SYK p.Leu183Pro Uncertain significance Single submitter
- SYK p.Lys361Glu Uncertain significance Single submitter
- SYK p.Lys368Asn Uncertain significance Single submitter
- SYK p.Lys483Arg Uncertain significance Single submitter
- SYK p.Lys548Glu Uncertain significance Single submitter
- SYK p.Met480Val Uncertain significance Single submitter
- SYK p.Ser202Phe Uncertain significance Single submitter
- SYK p.Thr398Asn Uncertain significance Single submitter
- SYK p.Thr65Ala Uncertain significance Single submitter
-
SYK p.Val100Ala
Uncertain significance
Single submitter
immunodeficiency 82 with systemic inflammation
- SYK p.Val113Leu Uncertain significance Single submitter
- SYK p.Val447Ile Uncertain significance Single submitter
- SYK p.Val466Ile Uncertain significance Single submitter
-
SYK p.Val55Met
Uncertain significance
Single submitter
immunodeficiency 82 with systemic inflammation
Predictors split 14
The independent predictors disagree with each other — read with care.
-
SYK p.Glu473Gln
Uncertain significance
Multiple submitters
immunodeficiency 82 with systemic inflammation
-
SYK p.Ala159Val
Uncertain significance
Single submitter
immunodeficiency 82 with systemic inflammation
-
SYK p.Ala353Thr
Uncertain significance
Single submitter
arthritic joint disease
- SYK p.Arg217Gly Uncertain significance Single submitter
-
SYK p.Arg434Gln
Uncertain significance
Single submitter
immunodeficiency 82 with systemic inflammation
-
SYK p.Glu230Lys
Uncertain significance
Single submitter
immunodeficiency 82 with systemic inflammation
- SYK p.Glu242Gln Uncertain significance Single submitter
- SYK p.Gly201Ser Uncertain significance Single submitter
- SYK p.Gly49Ser Uncertain significance Single submitter
-
SYK p.Met435Ile
Uncertain significance
Single submitter
immunodeficiency 82 with systemic inflammation
- SYK p.Pro110Ser Likely benign Single submitter
-
SYK p.Pro342Thr
Likely pathogenic
Single submitter
Skin rash
- SYK p.Ser174Cys Uncertain significance Single submitter
- SYK p.Val433Met Uncertain significance Single submitter
All SYK variants
Pathogenic 1
- p.Ser550Tyr Single submitter Skin rash
Likely pathogenic 2
- p.Met450Ile Single submitter Decreased circulating immunoglobulin concentration ⚠
- p.Pro342Thr Single submitter Skin rash ⚠
Conflicting classifications of pathogenicity 2
- p.Arg520Ser Single submitter ⚠
- p.Ser550Phe Single submitter Skin rash ⚠
Benign 26
- c.1182-4G>A Multiple submitters
- c.1182-7C>A Multiple submitters
- c.1182-7C>G Multiple submitters
- c.1582-16T>A Multiple submitters
- p.Arg434= Multiple submitters
- p.Asn499= Multiple submitters
- p.Gln43= Multiple submitters
- p.Leu446= Multiple submitters
- p.Leu515= Multiple submitters
- p.Phe513= Multiple submitters
- p.Pro355= Multiple submitters
- p.Tyr507= Multiple submitters
- c.1003+91G>A Single submitter
- c.1391+58C>T Single submitter
- c.1391+69C>T Single submitter
- c.1581+47G>A Single submitter
- c.1836-49A>T Single submitter
- c.417+79A>G Single submitter
- c.578+10G>A Single submitter
- c.846+105C>T Single submitter
- c.847-66G>A Single submitter
- c.-41-37G>A Single submitter
- p.Arg253= Single submitter
- p.Gly112= Single submitter
- p.Ser307= Single submitter
- p.Ser4= Single submitter
Benign/Likely benign 3
- c.796+20G>C Multiple submitters
- p.Ile262Leu Multiple submitters
- p.Tyr352= Multiple submitters
Likely benign 16
- c.1392-18G>A Single submitter
- c.1582-176T>C Single submitter
- c.417+12C>T Single submitter
- p.Ala621= Single submitter
- p.Arg520His Single submitter
- p.Gly5Ser Single submitter
- p.His90= Single submitter
- p.Leu143= Single submitter
- p.Lys509= Single submitter
- p.Pro110Ser Single submitter ⚠
- p.Pro322= Single submitter
- p.Ser54= Single submitter
- p.Val100= Single submitter
- p.Ala52Ser No assertion criteria long QT syndrome
- p.Leu237= No assertion criteria SYK-related disorder
- p.Tyr64= No assertion criteria SYK-related disorder
Uncertain significance 48
- p.Glu473Gln Multiple submitters immunodeficiency 82 with systemic inflammation ⚠
- p.Tyr323fs Multiple submitters immunodeficiency 82 with systemic inflammation
- p.Ala159Val Single submitter immunodeficiency 82 with systemic inflammation ⚠
- p.Ala282Pro Single submitter immunodeficiency 82 with systemic inflammation ⚠
- p.Ala282Val Single submitter ⚠
- p.Ala2Thr Single submitter ⚠
- p.Ala353Thr Single submitter arthritic joint disease ⚠
- p.Ala412Thr Single submitter ⚠
- p.Ala540Thr Single submitter ⚠
- p.Ala583Thr Single submitter ⚠
- p.Arg217Gly Single submitter ⚠
- p.Arg22Trp Single submitter ⚠
- p.Arg273His Single submitter ⚠
- p.Arg313Gln Single submitter ⚠
- p.Arg359Lys Single submitter ⚠
- p.Arg434Gln Single submitter immunodeficiency 82 with systemic inflammation ⚠
- p.Asn108Asp Single submitter ⚠
- p.Asp612Asn Single submitter ⚠
- p.Glu230Lys Single submitter immunodeficiency 82 with systemic inflammation ⚠
- p.Glu242Gln Single submitter ⚠
- p.Gly201Ser Single submitter ⚠
- p.Gly33Arg Single submitter
- p.Gly49Ser Single submitter ⚠
- p.Gly618Val Single submitter ⚠
- p.Ile20Val Single submitter ⚠
- p.Ile290Val Single submitter ⚠
- p.Ile472Val Single submitter ⚠
- p.Leu103Arg Single submitter ⚠
- p.Leu183Pro Single submitter ⚠
- p.Lys361Glu Single submitter ⚠
- p.Lys368Asn Single submitter ⚠
- p.Lys483Arg Single submitter ⚠
- p.Lys548Glu Single submitter ⚠
- p.Met1Ile Single submitter
- p.Met435Ile Single submitter immunodeficiency 82 with systemic inflammation ⚠
- p.Met480Val Single submitter ⚠
- p.Pro299Arg Single submitter
- p.Ser174Cys Single submitter ⚠
- p.Ser202Phe Single submitter ⚠
- p.Ser443Phe Single submitter
- p.Thr398Asn Single submitter ⚠
- p.Thr65Ala Single submitter ⚠
- p.Val100Ala Single submitter immunodeficiency 82 with systemic inflammation ⚠
- p.Val113Leu Single submitter ⚠
- p.Val433Met Single submitter ⚠
- p.Val447Ile Single submitter ⚠
- p.Val466Ile Single submitter ⚠
- p.Val55Met Single submitter immunodeficiency 82 with systemic inflammation ⚠