STIM1 — 799 ClinVar variants

All ClinVar germline STIM1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 343 flagged for review →

19 Pathogenic · 4 Pathogenic/Likely pathogenic · 12 Likely pathogenic · 23 Conflicting · 39 Benign · 15 Benign/Likely benign · 282 Likely benign · 405 Uncertain significance

Full STIM1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 343

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 13

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

STIM1 p.Arg561Cys Conflicting Single submitter
combined immunodeficiency due to STIM1 deficiency
STIM1 p.Arg561His Conflicting Single submitter
Stormorken syndrome
STIM1 p.Arg674His Conflicting Single submitter
tubular aggregate myopathy
STIM1 p.Asn291Ser Conflicting Single submitter
Inborn genetic diseases
STIM1 p.Asp84Asn Conflicting Single submitter
STIM1-related disorder
STIM1 p.Glu136Asp Conflicting Single submitter
Stormorken syndrome
STIM1 p.Glu152Lys Conflicting Single submitter
combined immunodeficiency due to STIM1 deficiency
STIM1 p.Glu61Gly Conflicting Single submitter
combined immunodeficiency due to STIM1 deficiency
STIM1 p.Gly81Asp Conflicting Single submitter
Stormorken syndrome
STIM1 p.Met571Thr Conflicting Single submitter
Inborn genetic diseases
STIM1 p.Ser555Phe Conflicting Single submitter
Stormorken syndrome
STIM1 p.Ser572Asn Conflicting Single submitter
combined immunodeficiency due to STIM1 deficiency
STIM1 p.Tyr98Cys Conflicting Single submitter
tubular aggregate myopathy

Predictors lean, ClinVar uncertain 274

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 274

STIM1 p.Ala163Asp Uncertain significance Multiple submitters
combined immunodeficiency due to STIM1 deficiency
STIM1 p.Ala31Pro Uncertain significance Multiple submitters
combined immunodeficiency due to STIM1 deficiency
STIM1 p.Ala31Val Uncertain significance Multiple submitters
Stormorken syndrome
STIM1 p.Ala45Gly Uncertain significance Multiple submitters
Inborn genetic diseases
STIM1 p.Ala565Val Uncertain significance Multiple submitters
combined immunodeficiency due to STIM1 deficiency
STIM1 p.Ala8Thr Uncertain significance Multiple submitters
Stormorken syndrome
STIM1 p.Arg235His Uncertain significance Multiple submitters
tubular aggregate myopathy
STIM1 p.Arg311Gln Uncertain significance Multiple submitters
Inborn genetic diseases
STIM1 p.Arg465Cys Uncertain significance Multiple submitters
myopathy, tubular aggregate, 1
STIM1 p.Arg465His Uncertain significance Multiple submitters
Inborn genetic diseases
STIM1 p.Arg50Gln Uncertain significance Multiple submitters
combined immunodeficiency due to STIM1 deficiency
STIM1 p.Arg533Cys Uncertain significance Multiple submitters
Inborn genetic diseases
STIM1 p.Arg533His Uncertain significance Multiple submitters
Inborn genetic diseases
STIM1 p.Arg573Cys Uncertain significance Multiple submitters
Stormorken syndrome
STIM1 p.Arg573His Uncertain significance Multiple submitters
Stormorken syndrome
STIM1 p.Arg573Ser Uncertain significance Multiple submitters
Inborn genetic diseases
STIM1 p.Arg589Trp Uncertain significance Multiple submitters
combined immunodeficiency due to STIM1 deficiency
STIM1 p.Arg646His Uncertain significance Multiple submitters
tubular aggregate myopathy
STIM1 p.Arg69Cys Uncertain significance Multiple submitters
Inborn genetic diseases
STIM1 p.Asn131Ser Uncertain significance Multiple submitters
combined immunodeficiency due to STIM1 deficiency
STIM1 p.Asn209Ser Uncertain significance Multiple submitters
Inborn genetic diseases
STIM1 p.Asn291Asp Uncertain significance Multiple submitters
Stormorken syndrome
STIM1 p.Asn291Thr Uncertain significance Multiple submitters
Inborn genetic diseases
STIM1 p.Asn585Ser Uncertain significance Multiple submitters
tubular aggregate myopathy
STIM1 p.Asp546Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
STIM1 p.Asp551Asn Uncertain significance Multiple submitters
combined immunodeficiency due to STIM1 deficiency
STIM1 p.Gln188Lys Uncertain significance Multiple submitters
Stormorken syndrome
STIM1 p.Gln21Arg Uncertain significance Multiple submitters
Inborn genetic diseases
STIM1 p.Gln532Lys Uncertain significance Multiple submitters
myopathy, tubular aggregate, 1
STIM1 p.Glu136Lys Uncertain significance Multiple submitters
Stormorken syndrome
STIM1 p.Glu249Asp Uncertain significance Multiple submitters
Stormorken syndrome
STIM1 p.Glu249Gly Uncertain significance Multiple submitters
Stormorken syndrome
STIM1 p.Glu378Asp Uncertain significance Multiple submitters
Inborn genetic diseases
STIM1 p.Glu418Lys Uncertain significance Multiple submitters
Stormorken syndrome
STIM1 p.Glu483Lys Uncertain significance Multiple submitters
Inborn genetic diseases
STIM1 p.Gly20Ser Uncertain significance Multiple submitters
Stormorken syndrome
STIM1 p.Gly225Cys Uncertain significance Multiple submitters
tubular aggregate myopathy
STIM1 p.Gly226Ser Uncertain significance Multiple submitters
combined immunodeficiency due to STIM1 deficiency
STIM1 p.Gly379Arg Uncertain significance Multiple submitters
combined immunodeficiency due to STIM1 deficiency
STIM1 p.His266Tyr Uncertain significance Multiple submitters
Stormorken syndrome
STIM1 p.His27Gln Uncertain significance Multiple submitters
Stormorken syndrome
STIM1 p.His619Arg Uncertain significance Multiple submitters
tubular aggregate myopathy
STIM1 p.Ile383Thr Uncertain significance Multiple submitters
Stormorken syndrome
STIM1 p.Ile591Thr Uncertain significance Multiple submitters
Stormorken syndrome
STIM1 p.Leu114Phe Uncertain significance Multiple submitters
combined immunodeficiency due to STIM1 deficiency
STIM1 p.Lys385Arg Uncertain significance Multiple submitters
combined immunodeficiency due to STIM1 deficiency
STIM1 p.Lys703Arg Uncertain significance Multiple submitters
Stormorken syndrome
STIM1 p.Lys708Arg Uncertain significance Multiple submitters
Stormorken syndrome
STIM1 p.Lys73Arg Uncertain significance Multiple submitters
Stormorken syndrome
STIM1 p.Met181Val Uncertain significance Multiple submitters
STIM1-related disorder
STIM1 p.Met215Leu Uncertain significance Multiple submitters
STIM1 p.Met461Thr Uncertain significance Multiple submitters
combined immunodeficiency due to STIM1 deficiency
STIM1 p.Met473Ile Uncertain significance Multiple submitters
Inborn genetic diseases
STIM1 p.Pro202Leu Uncertain significance Multiple submitters
Inborn genetic diseases
STIM1 p.Ser237Phe Uncertain significance Multiple submitters
tubular aggregate myopathy
STIM1 p.Ser337Cys Uncertain significance Multiple submitters
combined immunodeficiency due to STIM1 deficiency
STIM1 p.Ser36Leu Uncertain significance Multiple submitters
combined immunodeficiency due to STIM1 deficiency
STIM1 p.Ser399Asn Uncertain significance Multiple submitters
Inborn genetic diseases
STIM1 p.Ser559Asn Uncertain significance Multiple submitters
tubular aggregate myopathy
STIM1 p.Ser587Arg Uncertain significance Multiple submitters
tubular aggregate myopathy
STIM1 p.Ser598Phe Uncertain significance Multiple submitters
STIM1 p.Thr153Ile Uncertain significance Multiple submitters
combined immunodeficiency due to STIM1 deficiency
STIM1 p.Thr307Ala Uncertain significance Multiple submitters
Inborn genetic diseases
STIM1 p.Thr535Ala Uncertain significance Multiple submitters
combined immunodeficiency due to STIM1 deficiency
STIM1 p.Tyr231Cys Uncertain significance Multiple submitters
combined immunodeficiency due to STIM1 deficiency
STIM1 p.Val134Met Uncertain significance Multiple submitters
Stormorken syndrome
STIM1 p.Val221Ile Uncertain significance Multiple submitters
tubular aggregate myopathy
STIM1 p.Val224Met Uncertain significance Multiple submitters
Inborn genetic diseases
STIM1 p.Val375Leu Uncertain significance Multiple submitters
combined immunodeficiency due to STIM1 deficiency
STIM1 p.Ala194Ser Uncertain significance Single submitter
combined immunodeficiency due to STIM1 deficiency
STIM1 p.Ala268Pro Uncertain significance Single submitter
STIM1 p.Ala327Pro Uncertain significance Single submitter
tubular aggregate myopathy
STIM1 p.Ala327Thr Uncertain significance Single submitter
tubular aggregate myopathy
STIM1 p.Ala327Val Uncertain significance Single submitter
Inborn genetic diseases
STIM1 p.Ala346Thr Uncertain significance Single submitter
Stormorken syndrome
STIM1 p.Ala380Thr Uncertain significance Single submitter
combined immunodeficiency due to STIM1 deficiency
STIM1 p.Ala38Thr Uncertain significance Single submitter
Stormorken syndrome
STIM1 p.Ala452Gly Uncertain significance Single submitter
combined immunodeficiency due to STIM1 deficiency
STIM1 p.Ala453Ser Uncertain significance Single submitter
Stormorken syndrome
STIM1 p.Ala574Val Uncertain significance Single submitter
combined immunodeficiency due to STIM1 deficiency
STIM1 p.Ala581Thr Uncertain significance Single submitter
combined immunodeficiency due to STIM1 deficiency
STIM1 p.Ala608Thr Uncertain significance Single submitter
Stormorken syndrome
STIM1 p.Ala608Val Uncertain significance Single submitter
Inborn genetic diseases
STIM1 p.Ala679Thr Uncertain significance Single submitter
combined immunodeficiency due to STIM1 deficiency
STIM1 p.Ala67Pro Uncertain significance Single submitter
Inborn genetic diseases
STIM1 p.Ala67Thr Uncertain significance Single submitter
Stormorken syndrome
STIM1 p.Arg155Leu Uncertain significance Single submitter
combined immunodeficiency due to STIM1 deficiency
STIM1 p.Arg184Gln Uncertain significance Single submitter
tubular aggregate myopathy
STIM1 p.Arg187Gln Uncertain significance Single submitter
tubular aggregate myopathy
STIM1 p.Arg207His Uncertain significance Single submitter
combined immunodeficiency due to STIM1 deficiency
STIM1 p.Arg235Cys Uncertain significance Single submitter
Stormorken syndrome
STIM1 p.Arg235Gly Uncertain significance Single submitter
combined immunodeficiency due to STIM1 deficiency
STIM1 p.Arg273His Uncertain significance Single submitter
combined immunodeficiency due to STIM1 deficiency
STIM1 p.Arg287Cys Uncertain significance Single submitter
tubular aggregate myopathy
STIM1 p.Arg287His Uncertain significance Single submitter
combined immunodeficiency due to STIM1 deficiency
STIM1 p.Arg299Trp Uncertain significance Single submitter
Inborn genetic diseases
STIM1 p.Arg313Cys Uncertain significance Single submitter
Stormorken syndrome
STIM1 p.Arg325Gln Uncertain significance Single submitter
Stormorken syndrome
STIM1 p.Arg424Trp Uncertain significance Single submitter
Stormorken syndrome
STIM1 p.Arg426Cys Uncertain significance Single submitter
tubular aggregate myopathy
STIM1 p.Arg531Gln Uncertain significance Single submitter
Stormorken syndrome
STIM1 p.Arg563Cys Uncertain significance Single submitter
tubular aggregate myopathy
STIM1 p.Arg563His Uncertain significance Single submitter
Stormorken syndrome
STIM1 p.Arg563Pro Uncertain significance Single submitter
combined immunodeficiency due to STIM1 deficiency
STIM1 p.Arg589Gln Uncertain significance Single submitter
combined immunodeficiency due to STIM1 deficiency
STIM1 p.Arg69His Uncertain significance Single submitter
Stormorken syndrome
STIM1 p.Asn363Ser Uncertain significance Single submitter
STIM1 p.Asn39Ser Uncertain significance Single submitter
Stormorken syndrome
STIM1 p.Asn467Lys Uncertain significance Single submitter
STIM1 p.Asn467Ser Uncertain significance Single submitter
combined immunodeficiency due to STIM1 deficiency
STIM1 p.Asn580Asp Uncertain significance Single submitter
Stormorken syndrome
STIM1 p.Asn580His Uncertain significance Single submitter
Inborn genetic diseases
STIM1 p.Asn80Asp Uncertain significance Single submitter
Stormorken syndrome
STIM1 p.Asn80Ser Uncertain significance Single submitter
tubular aggregate myopathy
STIM1 p.Asp76Gly Uncertain significance Single submitter
STIM1 p.Asp77Asn Uncertain significance Single submitter
STIM1 p.Asp89Ala Uncertain significance Single submitter
tubular aggregate myopathy
STIM1 p.Cys49Tyr Uncertain significance Single submitter
combined immunodeficiency due to STIM1 deficiency
STIM1 p.Gln19His Uncertain significance Single submitter
combined immunodeficiency due to STIM1 deficiency
STIM1 p.Gln372His Uncertain significance Single submitter
tubular aggregate myopathy
STIM1 p.Gln431Lys Uncertain significance Single submitter
tubular aggregate myopathy
STIM1 p.Gln432His Uncertain significance Single submitter
combined immunodeficiency due to STIM1 deficiency
STIM1 p.Gln491Lys Uncertain significance Single submitter
Inborn genetic diseases
STIM1 p.Gln527Arg Uncertain significance Single submitter
tubular aggregate myopathy
STIM1 p.Gln532His Uncertain significance Single submitter
combined immunodeficiency due to STIM1 deficiency
STIM1 p.Gln538Arg Uncertain significance Single submitter
Stormorken syndrome
STIM1 p.Gln538Glu Uncertain significance Single submitter
Stormorken syndrome
STIM1 p.Gln544His Uncertain significance Single submitter
Stormorken syndrome
STIM1 p.Glu255Gly Uncertain significance Single submitter
Stormorken syndrome
STIM1 p.Glu42Lys Uncertain significance Single submitter
Stormorken syndrome
STIM1 p.Glu434Lys Uncertain significance Single submitter
tubular aggregate myopathy
STIM1 p.Glu483Asp Uncertain significance Single submitter
STIM1 p.Glu577Lys Uncertain significance Single submitter
combined immunodeficiency due to STIM1 deficiency
STIM1 p.Glu592Gly Uncertain significance Single submitter
Stormorken syndrome
STIM1 p.Glu592Lys Uncertain significance Single submitter
combined immunodeficiency due to STIM1 deficiency
STIM1 p.Glu59Gln Uncertain significance Single submitter
Stormorken syndrome
STIM1 p.Glu629Asp Uncertain significance Single submitter
combined immunodeficiency due to STIM1 deficiency
STIM1 p.Gly161Asp Uncertain significance Single submitter
Stormorken syndrome
STIM1 p.Gly176Ala Uncertain significance Single submitter
Stormorken syndrome
STIM1 p.Gly33Glu Uncertain significance Single submitter
combined immunodeficiency due to STIM1 deficiency
STIM1 p.Gly392Ala Uncertain significance Single submitter
Stormorken syndrome
STIM1 p.Gly586Asp Uncertain significance Single submitter
combined immunodeficiency due to STIM1 deficiency
STIM1 p.Gly586Val Uncertain significance Single submitter
combined immunodeficiency due to STIM1 deficiency
STIM1 p.Gly593Arg Uncertain significance Single submitter
Stormorken syndrome
STIM1 p.Gly597Glu Uncertain significance Single submitter
Stormorken syndrome
STIM1 p.Gly701Asp Uncertain significance Single submitter
Stormorken syndrome
STIM1 p.Gly81Cys Uncertain significance Single submitter
combined immunodeficiency due to STIM1 deficiency
STIM1 p.Gly81Ser Uncertain significance Single submitter
STIM1 p.His105Asn Uncertain significance Single submitter
combined immunodeficiency due to STIM1 deficiency
STIM1 p.His105Asp Uncertain significance Single submitter
combined immunodeficiency due to STIM1 deficiency

Predictors split 56

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

STIM1 p.Arg155Gln Uncertain significance Multiple submitters
Stormorken syndrome
STIM1 p.Arg155Trp Uncertain significance Multiple submitters
combined immunodeficiency due to STIM1 deficiency
STIM1 p.Arg184Trp Uncertain significance Multiple submitters
tubular aggregate myopathy
STIM1 p.Arg304Trp Pathogenic Multiple submitters
Stormorken syndrome
STIM1 p.Arg311Trp Uncertain significance Multiple submitters
tubular aggregate myopathy
STIM1 p.Asp479Gly Uncertain significance Multiple submitters
tubular aggregate myopathy
STIM1 p.His240Tyr Uncertain significance Multiple submitters
tubular aggregate myopathy
STIM1 p.Lys703Asn Uncertain significance Multiple submitters
Stormorken syndrome
STIM1 p.Met480Thr Uncertain significance Multiple submitters
combined immunodeficiency due to STIM1 deficiency
STIM1 p.Ser552Leu Uncertain significance Multiple submitters
combined immunodeficiency due to STIM1 deficiency
STIM1 p.Val324Ile Uncertain significance Multiple submitters
Stormorken syndrome
STIM1 p.Ala268Val Uncertain significance Single submitter
Stormorken syndrome
STIM1 p.Ala293Thr Uncertain significance Single submitter
tubular aggregate myopathy
STIM1 p.Arg207Ser Uncertain significance Single submitter
STIM1 p.Arg287Ser Uncertain significance Single submitter
Stormorken syndrome
STIM1 p.Arg313His Uncertain significance Single submitter
Stormorken syndrome
STIM1 p.Arg325Leu Uncertain significance Single submitter
Stormorken syndrome
STIM1 p.Arg545Ser Uncertain significance Single submitter
STIM1 p.Asn443Lys Uncertain significance Single submitter
STIM1 p.Asn80Thr Likely pathogenic Single submitter
Stormorken syndrome
STIM1 p.Asp478Glu Uncertain significance Single submitter
tubular aggregate myopathy
STIM1 p.Asp481Gly Uncertain significance Single submitter
STIM1 p.Asp60Tyr Uncertain significance Single submitter
Stormorken syndrome
STIM1 p.Asp84Glu Likely pathogenic Single submitter
myopathy, tubular aggregate, 1
STIM1 p.Asp89Glu Uncertain significance Single submitter
Stormorken syndrome
STIM1 p.Gln414Leu Uncertain significance Single submitter
Stormorken syndrome
STIM1 p.Glu336Asp Uncertain significance Single submitter
combined immunodeficiency due to STIM1 deficiency
STIM1 p.Glu90Asp Uncertain significance Single submitter
Stormorken syndrome
STIM1 p.Gly446Asp Uncertain significance Single submitter
combined immunodeficiency due to STIM1 deficiency
STIM1 p.His105Gln Uncertain significance Single submitter
Stormorken syndrome
STIM1 p.His355Tyr Uncertain significance Single submitter
Stormorken syndrome
STIM1 p.His428Gln Uncertain significance Single submitter
tubular aggregate myopathy
STIM1 p.Ile456Thr Uncertain significance Single submitter
Stormorken syndrome
STIM1 p.Leu17Arg Uncertain significance Single submitter
combined immunodeficiency due to STIM1 deficiency
STIM1 p.Leu17Pro Uncertain significance Single submitter
combined immunodeficiency due to STIM1 deficiency
STIM1 p.Leu199Ile Uncertain significance Single submitter
Inborn genetic diseases
STIM1 p.Leu205Ser Uncertain significance Single submitter
combined immunodeficiency due to STIM1 deficiency
STIM1 p.Leu7Pro Uncertain significance Single submitter
combined immunodeficiency due to STIM1 deficiency
STIM1 p.Lys246Asn Uncertain significance Single submitter
combined immunodeficiency due to STIM1 deficiency
STIM1 p.Lys246Glu Uncertain significance Single submitter
STIM1 p.Lys285Glu Uncertain significance Single submitter
combined immunodeficiency due to STIM1 deficiency
STIM1 p.Lys708Asn Uncertain significance Single submitter
myopathy, tubular aggregate, 1
STIM1 p.Met241Ile Uncertain significance Single submitter
tubular aggregate myopathy
STIM1 p.Met245Leu Uncertain significance Single submitter
combined immunodeficiency due to STIM1 deficiency
STIM1 p.Met245Val Uncertain significance Single submitter
Stormorken syndrome
STIM1 p.Phe214Leu Uncertain significance Single submitter
Stormorken syndrome
STIM1 p.Phe394Leu Uncertain significance Single submitter
combined immunodeficiency due to STIM1 deficiency
STIM1 p.Ser36Trp Uncertain significance Single submitter
Stormorken syndrome
STIM1 p.Ser459Arg Uncertain significance Single submitter
Stormorken syndrome
STIM1 p.Ser543Thr Uncertain significance Single submitter
migraine disorder
STIM1 p.Ser550Tyr Uncertain significance Single submitter
combined immunodeficiency due to STIM1 deficiency
STIM1 p.Thr411Arg Uncertain significance Single submitter
combined immunodeficiency due to STIM1 deficiency
STIM1 p.Val117Leu Uncertain significance Single submitter
combined immunodeficiency due to STIM1 deficiency
STIM1 p.Val137Met Uncertain significance Single submitter
Stormorken syndrome
STIM1 p.Val359Leu Uncertain significance Single submitter
Stormorken syndrome
STIM1 p.Val396Met Uncertain significance Single submitter
combined immunodeficiency due to STIM1 deficiency

All STIM1 variants

Pathogenic 19

p.Arg304Trp Multiple submitters Stormorken syndrome ⚠
p.Ala397fs Single submitter Stormorken syndrome
p.Arg253Ter Single submitter Stormorken syndrome
p.Arg429Cys Single submitter Stormorken syndrome
p.Asn234fs Single submitter combined immunodeficiency due to STIM1 deficiency
p.Asp84Gly Single submitter tubular aggregate myopathy
p.Glu482fs Single submitter tubular aggregate myopathy
p.His109Tyr Single submitter tubular aggregate myopathy
p.Ile115Phe Single submitter combined immunodeficiency due to STIM1 deficiency
p.Ile290fs Single submitter combined immunodeficiency due to STIM1 deficiency
p.Ile484fs Single submitter combined immunodeficiency due to STIM1 deficiency
p.Leu488Ter Single submitter combined immunodeficiency due to STIM1 deficiency
p.Trp10Ter Single submitter Stormorken syndrome
p.Val485fs Single submitter myopathy, tubular aggregate, 1
c.970-1G>A No assertion criteria combined immunodeficiency due to STIM1 deficiency
p.Glu128fs No assertion criteria combined immunodeficiency due to STIM1 deficiency
p.His109Asn No assertion criteria myopathy, tubular aggregate, 1
p.His72Gln No assertion criteria myopathy, tubular aggregate, 1
p.Leu74Pro No assertion criteria combined immunodeficiency due to STIM1 deficiency

Pathogenic/Likely pathogenic 4

p.Arg50Ter Multiple submitters combined immunodeficiency due to STIM1 deficiency
p.His109Arg Multiple submitters Stormorken syndrome
p.Leu55fs Multiple submitters Stormorken syndrome
p.Ser88Gly Multiple submitters combined immunodeficiency due to STIM1 deficiency

Likely pathogenic 12

c.1568-1G>T Single submitter Stormorken syndrome
c.270+1_270+2insCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAAAGTGATGAGG Single submitter combined immunodeficiency due to STIM1 deficiency
c.270+1G>C Single submitter combined immunodeficiency due to STIM1 deficiency
c.270+2T>C Single submitter combined immunodeficiency due to STIM1 deficiency
c.386-1G>A Single submitter Stormorken syndrome
c.792-1G>A Single submitter Stormorken syndrome
p.Asn80Thr Single submitter Stormorken syndrome ⚠
p.Asp84Ala Single submitter Stormorken syndrome
p.Asp84Glu Single submitter myopathy, tubular aggregate, 1 ⚠
p.Gln188Arg Single submitter Stormorken syndrome
p.Ile115Thr Single submitter myopathy, tubular aggregate, 1
p.Pro468fs Single submitter myopathy, tubular aggregate, 1

Conflicting classifications of pathogenicity 23

c.140-5C>T Single submitter Stormorken syndrome
c.1634+197G>A Single submitter
c.1634+269C>G Single submitter myopathy, tubular aggregate, 1
c.1634+272C>G Single submitter
c.1634+287G>A Single submitter combined immunodeficiency due to STIM1 deficiency
c.1634+319G>A Single submitter Stormorken syndrome
c.386-14G>C Single submitter Stormorken syndrome
c.792-3dup Single submitter tubular aggregate myopathy
c.792-8C>T Single submitter Stormorken syndrome
p.Arg561Cys Single submitter combined immunodeficiency due to STIM1 deficiency ⚠
p.Arg561His Single submitter Stormorken syndrome ⚠
p.Arg674His Single submitter tubular aggregate myopathy ⚠
p.Asn291Ser Single submitter Inborn genetic diseases ⚠
p.Asp84Asn Single submitter STIM1-related disorder ⚠
p.Glu136Asp Single submitter Stormorken syndrome ⚠
p.Glu152Lys Single submitter combined immunodeficiency due to STIM1 deficiency ⚠
p.Glu61Gly Single submitter combined immunodeficiency due to STIM1 deficiency ⚠
p.Gly81Asp Single submitter Stormorken syndrome ⚠
p.Met571Thr Single submitter Inborn genetic diseases ⚠
p.Ser555Phe Single submitter Stormorken syndrome ⚠
p.Ser572Asn Single submitter combined immunodeficiency due to STIM1 deficiency ⚠
p.Tyr521Phe Single submitter
p.Tyr98Cys Single submitter tubular aggregate myopathy ⚠

Benign 39

c.1138-105C>A Multiple submitters
c.1138-25T>C Multiple submitters Stormorken syndrome
c.1138-52A>C Multiple submitters
c.1138-9T>C Multiple submitters tubular aggregate myopathy
c.1238+107A>C Multiple submitters
c.1238+128C>T Multiple submitters
c.1238+60A>G Multiple submitters
c.1239-138T>C Multiple submitters
c.1239-63G>A Multiple submitters
c.1474+17C>G Multiple submitters Stormorken syndrome
c.1568-123T>C Multiple submitters
c.1634+1936A>T Multiple submitters
c.1635-2364C>T Multiple submitters
c.270+213G>C Multiple submitters
c.270+79C>A Multiple submitters
c.385+12C>T Multiple submitters tubular aggregate myopathy
c.385+143A>T Multiple submitters
c.386-146A>C Multiple submitters
c.969+193T>C Multiple submitters
c.-427C>T Multiple submitters
c.-607A>G Multiple submitters
p.Gln360= Multiple submitters tubular aggregate myopathy
p.Pro569Ser Multiple submitters tubular aggregate myopathy
c.1634+1877C>A Single submitter
c.1635-102C>T Single submitter
c.270+270G>A Single submitter
c.270+314C>G Single submitter
c.271-3034G>C Single submitter Stormorken syndrome
c.385+198G>A Single submitter
c.385+250G>C Single submitter
c.385+309T>G Single submitter
c.497+181T>A Single submitter
c.-385TCTTC[3] Single submitter
c.-84+190_-84+191insCC Single submitter
c.-84+194dup Single submitter
c.-84+198del Single submitter
p.Lys567Arg Single submitter tubular aggregate myopathy
p.Met571Arg Single submitter combined immunodeficiency due to STIM1 deficiency
p.Ser572Gly Single submitter combined immunodeficiency due to STIM1 deficiency

Benign/Likely benign 15

c.1138-15del Multiple submitters Stormorken syndrome
c.1239-13C>T Multiple submitters tubular aggregate myopathy
p.Arg287= Multiple submitters tubular aggregate myopathy
p.Asp78= Multiple submitters combined immunodeficiency due to STIM1 deficiency
p.Glu434= Multiple submitters tubular aggregate myopathy
p.Gly37= Multiple submitters tubular aggregate myopathy
p.Ile435= Multiple submitters Stormorken syndrome
p.Leu199= Multiple submitters combined immunodeficiency due to STIM1 deficiency
p.Leu390= Multiple submitters combined immunodeficiency due to STIM1 deficiency
p.Pro537= Multiple submitters tubular aggregate myopathy
p.Thr509Pro Multiple submitters
p.Thr535= Multiple submitters combined immunodeficiency due to STIM1 deficiency
p.Thr535Met Multiple submitters combined immunodeficiency due to STIM1 deficiency
p.Val129= Multiple submitters tubular aggregate myopathy
p.Val169= Multiple submitters Stormorken syndrome

Likely benign 282

c.1138-11C>T Multiple submitters Stormorken syndrome
c.1138-8C>T Multiple submitters tubular aggregate myopathy
c.140-9C>T Multiple submitters Stormorken syndrome
c.1568-9T>C Multiple submitters combined immunodeficiency due to STIM1 deficiency
c.1634+11G>A Multiple submitters Stormorken syndrome
c.1634+13C>A Multiple submitters Stormorken syndrome
c.386-11T>C Multiple submitters tubular aggregate myopathy
c.497+17G>A Multiple submitters combined immunodeficiency due to STIM1 deficiency
c.792-4C>A Multiple submitters Stormorken syndrome
c.792-4C>G Multiple submitters Stormorken syndrome
c.792-59G>T Multiple submitters
c.792-9C>T Multiple submitters Stormorken syndrome
c.969+10T>G Multiple submitters Stormorken syndrome
c.969+167T>C Multiple submitters
c.*172A>G Multiple submitters
p.Ala376= Multiple submitters combined immunodeficiency due to STIM1 deficiency
p.Ala38= Multiple submitters tubular aggregate myopathy
p.Arg531= Multiple submitters tubular aggregate myopathy
p.Asn131= Multiple submitters Stormorken syndrome
p.Asp576= Multiple submitters tubular aggregate myopathy
p.Glu318= Multiple submitters Stormorken syndrome
p.Glu59= Multiple submitters Stormorken syndrome
p.Glu66= Multiple submitters combined immunodeficiency due to STIM1 deficiency
p.Gly201= Multiple submitters Stormorken syndrome
p.Leu190= Multiple submitters combined immunodeficiency due to STIM1 deficiency
p.Lys246= Multiple submitters Stormorken syndrome
p.Phe65= Multiple submitters Stormorken syndrome
p.Pro487= Multiple submitters combined immunodeficiency due to STIM1 deficiency
p.Ser35= Multiple submitters Stormorken syndrome
p.Thr172= Multiple submitters combined immunodeficiency due to STIM1 deficiency
c.1137+10G>A Single submitter tubular aggregate myopathy
c.1137+116T>C Single submitter
c.1137+11C>G Single submitter Stormorken syndrome
c.1137+13C>T Single submitter Stormorken syndrome
c.1137+14T>G Single submitter combined immunodeficiency due to STIM1 deficiency
c.1137+18A>G Single submitter Stormorken syndrome
c.1137+8C>T Single submitter tubular aggregate myopathy
c.1138-14C>A Single submitter Stormorken syndrome
c.1138-15dup Single submitter combined immunodeficiency due to STIM1 deficiency
c.1138-16G>A Single submitter Stormorken syndrome
c.1138-4G>A Single submitter Stormorken syndrome
c.1238+10A>C Single submitter tubular aggregate myopathy
c.1238+12del Single submitter tubular aggregate myopathy
c.1238+14G>A Single submitter tubular aggregate myopathy
c.1238+16_1238+17insG Single submitter Stormorken syndrome
c.1238+19C>T Single submitter
c.1238+9C>T Single submitter tubular aggregate myopathy
c.1239-10_1239-9del Single submitter Stormorken syndrome
c.1239-10C>T Single submitter Stormorken syndrome
c.1239-17C>G Single submitter combined immunodeficiency due to STIM1 deficiency
c.1239-20T>A Single submitter Stormorken syndrome
c.1239-4del Single submitter Stormorken syndrome
c.1239-6C>T Single submitter combined immunodeficiency due to STIM1 deficiency
c.1239-8G>A Single submitter tubular aggregate myopathy
c.139+12C>T Single submitter tubular aggregate myopathy
c.139+13T>A Single submitter combined immunodeficiency due to STIM1 deficiency
c.139+16G>A Single submitter combined immunodeficiency due to STIM1 deficiency
c.139+246A>C Single submitter
c.139+6G>A Single submitter Stormorken syndrome
c.139+7C>A Single submitter Stormorken syndrome
c.140-15G>C Single submitter combined immunodeficiency due to STIM1 deficiency
c.140-16T>G Single submitter Stormorken syndrome
c.140-8T>C Single submitter tubular aggregate myopathy
c.1474+16dup Single submitter Stormorken syndrome
c.1474+17C>A Single submitter tubular aggregate myopathy
c.1474+17C>T Single submitter Stormorken syndrome
c.1474+17del Single submitter Stormorken syndrome
c.1474+20G>A Single submitter combined immunodeficiency due to STIM1 deficiency
c.1474+7G>A Single submitter combined immunodeficiency due to STIM1 deficiency
c.1541+504T>C Single submitter
c.1568-10C>T Single submitter combined immunodeficiency due to STIM1 deficiency
c.1568-12T>C Single submitter Stormorken syndrome
c.1568-13A>T Single submitter tubular aggregate myopathy
c.1568-15T>C Single submitter Stormorken syndrome
c.1568-4G>T Single submitter Stormorken syndrome
c.1568-7C>G Single submitter Stormorken syndrome
c.1634+101G>A Single submitter
c.1634+10G>A Single submitter combined immunodeficiency due to STIM1 deficiency
c.1634+161A>T Single submitter
c.1634+171C>T Single submitter
c.1634+187C>T Single submitter
c.1634+2159A>T Single submitter combined immunodeficiency due to STIM1 deficiency
c.1634+286C>T Single submitter
c.1634+299G>A Single submitter
c.1634+57T>C Single submitter
c.1634+7A>G Single submitter Stormorken syndrome
c.1635-11A>G Single submitter combined immunodeficiency due to STIM1 deficiency
c.1635-15C>T Single submitter Stormorken syndrome
c.1635-16G>A Single submitter combined immunodeficiency due to STIM1 deficiency
c.1635-20C>G Single submitter Stormorken syndrome
c.1635-9G>A Single submitter tubular aggregate myopathy
c.270+11C>T Single submitter combined immunodeficiency due to STIM1 deficiency
c.270+12C>T Single submitter Stormorken syndrome
c.270+13A>G Single submitter Stormorken syndrome
c.270+18G>T Single submitter combined immunodeficiency due to STIM1 deficiency
c.270+19C>T Single submitter combined immunodeficiency due to STIM1 deficiency
c.271-11T>C Single submitter combined immunodeficiency due to STIM1 deficiency
c.271-13T>C Single submitter combined immunodeficiency due to STIM1 deficiency
c.271-19G>A Single submitter combined immunodeficiency due to STIM1 deficiency
c.271-19G>C Single submitter combined immunodeficiency due to STIM1 deficiency
c.271-3034_271-3023del Single submitter combined immunodeficiency due to STIM1 deficiency
c.271-9C>T Single submitter tubular aggregate myopathy
c.385+16G>A Single submitter Stormorken syndrome
c.385+19A>G Single submitter Stormorken syndrome
c.385+20T>G Single submitter tubular aggregate myopathy
c.385+7G>A Single submitter tubular aggregate myopathy
c.385+7G>T Single submitter combined immunodeficiency due to STIM1 deficiency
c.386-17C>G Single submitter Stormorken syndrome
c.386-18G>T Single submitter tubular aggregate myopathy
c.497+16G>A Single submitter combined immunodeficiency due to STIM1 deficiency
c.497+17G>T Single submitter Stormorken syndrome
c.498-14C>G Single submitter combined immunodeficiency due to STIM1 deficiency
c.498-14C>T Single submitter tubular aggregate myopathy
c.498-15T>C Single submitter Stormorken syndrome
c.498-16C>G Single submitter combined immunodeficiency due to STIM1 deficiency
c.498-18T>A Single submitter combined immunodeficiency due to STIM1 deficiency
c.498-4A>C Single submitter combined immunodeficiency due to STIM1 deficiency
c.498-5A>G Single submitter
c.498-6C>T Single submitter combined immunodeficiency due to STIM1 deficiency
c.613+11T>A Single submitter Stormorken syndrome
c.614-11CT[2] Single submitter combined immunodeficiency due to STIM1 deficiency
c.614-20T>C Single submitter tubular aggregate myopathy
c.614-20T>G Single submitter Stormorken syndrome
c.614-4G>T Single submitter Stormorken syndrome
c.791+15T>G Single submitter combined immunodeficiency due to STIM1 deficiency
c.791+75C>G Single submitter
c.791+7C>G Single submitter Stormorken syndrome
c.791+7C>T Single submitter combined immunodeficiency due to STIM1 deficiency
c.792-11T>C Single submitter
c.792-4C>T Single submitter combined immunodeficiency due to STIM1 deficiency
c.792-6C>T Single submitter combined immunodeficiency due to STIM1 deficiency
c.792-8C>A Single submitter Stormorken syndrome
c.792-9C>A Single submitter tubular aggregate myopathy
c.792-9C>G Single submitter Stormorken syndrome
c.969+15A>T Single submitter combined immunodeficiency due to STIM1 deficiency
c.969+16A>G Single submitter combined immunodeficiency due to STIM1 deficiency
c.969+7G>A Single submitter tubular aggregate myopathy
c.969+7G>T Single submitter combined immunodeficiency due to STIM1 deficiency
c.969+9G>A Single submitter Stormorken syndrome
c.970-15C>G Single submitter combined immunodeficiency due to STIM1 deficiency
c.970-16C>A Single submitter Stormorken syndrome
c.970-17T>C Single submitter Stormorken syndrome
c.970-19C>T Single submitter Stormorken syndrome
c.970-6G>T Single submitter Stormorken syndrome
c.*10G>C Single submitter
c.*1G>C Single submitter
p.Ala343= Single submitter Stormorken syndrome
p.Ala523= Single submitter tubular aggregate myopathy
p.Ala574= Single submitter Stormorken syndrome
p.Ala575= Single submitter Stormorken syndrome
p.Ala581= Single submitter tubular aggregate myopathy
p.Ala67= Single submitter tubular aggregate myopathy
p.Ala79= Single submitter tubular aggregate myopathy
p.Arg207= Single submitter combined immunodeficiency due to STIM1 deficiency
p.Arg304= Single submitter combined immunodeficiency due to STIM1 deficiency
p.Arg311= Single submitter tubular aggregate myopathy
p.Arg325= Single submitter combined immunodeficiency due to STIM1 deficiency
p.Arg424= Single submitter combined immunodeficiency due to STIM1 deficiency
p.Arg499His Single submitter
p.Arg533= Single submitter tubular aggregate myopathy
p.Arg573= Single submitter tubular aggregate myopathy
p.Arg589= Single submitter Stormorken syndrome
p.Asn171= Single submitter combined immunodeficiency due to STIM1 deficiency
p.Asn234= Single submitter combined immunodeficiency due to STIM1 deficiency
p.Asn363= Single submitter combined immunodeficiency due to STIM1 deficiency
p.Asn444= Single submitter
p.Asn80= Single submitter Stormorken syndrome
p.Asp100= Single submitter tubular aggregate myopathy
p.Asp183= Single submitter combined immunodeficiency due to STIM1 deficiency
p.Asp475= Single submitter tubular aggregate myopathy
p.Asp476= Single submitter tubular aggregate myopathy
p.Asp551= Single submitter Stormorken syndrome
p.Asp688= Single submitter Stormorken syndrome
p.Asp76= Single submitter combined immunodeficiency due to STIM1 deficiency
p.Asp82= Single submitter combined immunodeficiency due to STIM1 deficiency
p.Asp95= Single submitter Stormorken syndrome
p.Gln149= Single submitter tubular aggregate myopathy
p.Gln158= Single submitter Stormorken syndrome
p.Gln233= Single submitter combined immunodeficiency due to STIM1 deficiency
p.Gln352= Single submitter Stormorken syndrome
p.Gln527= Single submitter Stormorken syndrome
p.Glu111= Single submitter combined immunodeficiency due to STIM1 deficiency
p.Glu118= Single submitter Stormorken syndrome
p.Glu136= Single submitter combined immunodeficiency due to STIM1 deficiency
p.Glu146= Single submitter Stormorken syndrome
p.Glu239= Single submitter Stormorken syndrome
p.Glu270= Single submitter tubular aggregate myopathy
p.Glu356= Single submitter combined immunodeficiency due to STIM1 deficiency
p.Glu378= Single submitter combined immunodeficiency due to STIM1 deficiency
p.Gly225= Single submitter combined immunodeficiency due to STIM1 deficiency
p.Gly250= Single submitter tubular aggregate myopathy
p.Gly306= Single submitter tubular aggregate myopathy
p.Gly37Ala Single submitter Stormorken syndrome
p.Gly392= Single submitter tubular aggregate myopathy
p.Gly540= Single submitter Stormorken syndrome
p.Gly593= Single submitter tubular aggregate myopathy
p.Gly597= Single submitter Stormorken syndrome
p.Gly638Ser Single submitter combined immunodeficiency due to STIM1 deficiency
p.His105= Single submitter tubular aggregate myopathy
p.His18= Single submitter Stormorken syndrome
p.His210= Single submitter combined immunodeficiency due to STIM1 deficiency
p.His281= Single submitter Stormorken syndrome
p.His395= Single submitter tubular aggregate myopathy
p.His407= Single submitter combined immunodeficiency due to STIM1 deficiency
p.His539= Single submitter combined immunodeficiency due to STIM1 deficiency
p.His595= Single submitter combined immunodeficiency due to STIM1 deficiency
p.His72= Single submitter Stormorken syndrome
p.His99= Single submitter combined immunodeficiency due to STIM1 deficiency
p.Ile115= Single submitter Stormorken syndrome
p.Ile220= Single submitter combined immunodeficiency due to STIM1 deficiency
p.Ile290= Single submitter Stormorken syndrome
p.Ile433= Single submitter Stormorken syndrome
p.Ile591= Single submitter combined immunodeficiency due to STIM1 deficiency
p.Leu114= Single submitter Stormorken syndrome
p.Leu12= Single submitter combined immunodeficiency due to STIM1 deficiency
p.Leu120= Single submitter combined immunodeficiency due to STIM1 deficiency
p.Leu15= Single submitter Stormorken syndrome
p.Leu157= Single submitter combined immunodeficiency due to STIM1 deficiency
p.Leu179= Single submitter Stormorken syndrome
p.Leu216= Single submitter Stormorken syndrome
p.Leu23= Single submitter combined immunodeficiency due to STIM1 deficiency
p.Leu248= Single submitter Stormorken syndrome
p.Leu258= Single submitter combined immunodeficiency due to STIM1 deficiency
p.Leu282= Single submitter Stormorken syndrome
p.Leu303= Single submitter tubular aggregate myopathy
p.Leu328= Single submitter combined immunodeficiency due to STIM1 deficiency
p.Leu335= Single submitter tubular aggregate myopathy
p.Leu353= Single submitter Stormorken syndrome
p.Leu373= Single submitter Stormorken syndrome
p.Leu374= Single submitter tubular aggregate myopathy
p.Leu402= Single submitter combined immunodeficiency due to STIM1 deficiency
p.Leu410= Single submitter Stormorken syndrome
p.Leu416= Single submitter tubular aggregate myopathy
p.Leu541= Single submitter Stormorken syndrome
p.Leu579= Single submitter combined immunodeficiency due to STIM1 deficiency
p.Leu590= Single submitter tubular aggregate myopathy
p.Leu603= Single submitter Stormorken syndrome
p.Leu714= Single submitter Stormorken syndrome
p.Lys113= Single submitter combined immunodeficiency due to STIM1 deficiency
p.Lys125= Single submitter combined immunodeficiency due to STIM1 deficiency
p.Lys189= Single submitter
p.Lys243= Single submitter Stormorken syndrome
p.Lys267= Single submitter Stormorken syndrome
p.Lys382= Single submitter tubular aggregate myopathy
p.Phe439= Single submitter tubular aggregate myopathy
p.Phe710= Single submitter combined immunodeficiency due to STIM1 deficiency
p.Pro165= Single submitter tubular aggregate myopathy
p.Pro466= Single submitter combined immunodeficiency due to STIM1 deficiency
p.Ser106= Single submitter Stormorken syndrome
p.Ser116= Single submitter tubular aggregate myopathy
p.Ser127= Single submitter combined immunodeficiency due to STIM1 deficiency
p.Ser36= Single submitter combined immunodeficiency due to STIM1 deficiency
p.Ser401= Single submitter Stormorken syndrome
p.Ser417= Single submitter Stormorken syndrome
p.Ser43= Single submitter Stormorken syndrome
p.Ser449= Single submitter combined immunodeficiency due to STIM1 deficiency
p.Ser550= Single submitter tubular aggregate myopathy
p.Ser552= Single submitter combined immunodeficiency due to STIM1 deficiency
p.Ser631= Single submitter Stormorken syndrome
p.Ser64= Single submitter Stormorken syndrome
p.Thr102= Single submitter Stormorken syndrome
p.Thr133= Single submitter tubular aggregate myopathy
p.Thr143= Single submitter combined immunodeficiency due to STIM1 deficiency
p.Thr173= Single submitter combined immunodeficiency due to STIM1 deficiency
p.Thr177= Single submitter combined immunodeficiency due to STIM1 deficiency
p.Thr182= Single submitter tubular aggregate myopathy
p.Thr307= Single submitter Stormorken syndrome
p.Thr34= Single submitter
p.Thr583= Single submitter Stormorken syndrome
p.Tyr150= Single submitter
p.Tyr231= Single submitter Stormorken syndrome
p.Val138= Single submitter combined immunodeficiency due to STIM1 deficiency
p.Val198= Single submitter Stormorken syndrome
p.Val218= Single submitter tubular aggregate myopathy
p.Val277= Single submitter Stormorken syndrome
p.Val280= Single submitter combined immunodeficiency due to STIM1 deficiency
p.Val357= Single submitter combined immunodeficiency due to STIM1 deficiency
p.Val375= Single submitter combined immunodeficiency due to STIM1 deficiency
p.Val405= Single submitter
c.1634+100C>T No assertion criteria STIM1-related disorder
c.*2C>T No assertion criteria STIM1-related disorder
p.Ser312= No assertion criteria STIM1-related disorder

Uncertain significance 405

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

c.792-3C>A Multiple submitters combined immunodeficiency due to STIM1 deficiency
c.792-3C>G Multiple submitters Stormorken syndrome
p.Ala163Asp Multiple submitters combined immunodeficiency due to STIM1 deficiency ⚠
p.Ala31Pro Multiple submitters combined immunodeficiency due to STIM1 deficiency ⚠
p.Ala31Val Multiple submitters Stormorken syndrome ⚠
p.Ala45Gly Multiple submitters Inborn genetic diseases ⚠
p.Ala565Val Multiple submitters combined immunodeficiency due to STIM1 deficiency ⚠
p.Ala8Thr Multiple submitters Stormorken syndrome ⚠
p.Arg155Gln Multiple submitters Stormorken syndrome ⚠
p.Arg155Trp Multiple submitters combined immunodeficiency due to STIM1 deficiency ⚠
p.Arg184Trp Multiple submitters tubular aggregate myopathy ⚠
p.Arg235His Multiple submitters tubular aggregate myopathy ⚠
p.Arg311Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg311Trp Multiple submitters tubular aggregate myopathy ⚠
p.Arg465Cys Multiple submitters myopathy, tubular aggregate, 1 ⚠
p.Arg465His Multiple submitters Inborn genetic diseases ⚠
p.Arg50Gln Multiple submitters combined immunodeficiency due to STIM1 deficiency ⚠
p.Arg531Trp Multiple submitters Stormorken syndrome
p.Arg533Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg533His Multiple submitters Inborn genetic diseases ⚠
p.Arg573Cys Multiple submitters Stormorken syndrome ⚠
p.Arg573His Multiple submitters Stormorken syndrome ⚠
p.Arg573Ser Multiple submitters Inborn genetic diseases ⚠
p.Arg589Trp Multiple submitters combined immunodeficiency due to STIM1 deficiency ⚠
p.Arg646His Multiple submitters tubular aggregate myopathy ⚠
p.Arg69Cys Multiple submitters Inborn genetic diseases ⚠
p.Asn131Ser Multiple submitters combined immunodeficiency due to STIM1 deficiency ⚠
p.Asn209Ser Multiple submitters Inborn genetic diseases ⚠
p.Asn291Asp Multiple submitters Stormorken syndrome ⚠
p.Asn291Thr Multiple submitters Inborn genetic diseases ⚠
p.Asn585Ser Multiple submitters tubular aggregate myopathy ⚠
p.Asp479Gly Multiple submitters tubular aggregate myopathy ⚠
p.Asp546Tyr Multiple submitters Inborn genetic diseases ⚠
p.Asp551Asn Multiple submitters combined immunodeficiency due to STIM1 deficiency ⚠
p.Gln158Pro Multiple submitters combined immunodeficiency due to STIM1 deficiency
p.Gln188Lys Multiple submitters Stormorken syndrome ⚠
p.Gln21Arg Multiple submitters Inborn genetic diseases ⚠
p.Gln256Arg Multiple submitters Stormorken syndrome
p.Gln532Lys Multiple submitters myopathy, tubular aggregate, 1 ⚠
p.Glu136Lys Multiple submitters Stormorken syndrome ⚠
p.Glu249Asp Multiple submitters Stormorken syndrome ⚠
p.Glu249Gly Multiple submitters Stormorken syndrome ⚠
p.Glu378Asp Multiple submitters Inborn genetic diseases ⚠
p.Glu418Lys Multiple submitters Stormorken syndrome ⚠
p.Glu483Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu66Lys Multiple submitters tubular aggregate myopathy
p.Gly20Ser Multiple submitters Stormorken syndrome ⚠
p.Gly225Cys Multiple submitters tubular aggregate myopathy ⚠
p.Gly226Ser Multiple submitters combined immunodeficiency due to STIM1 deficiency ⚠
p.Gly379Arg Multiple submitters combined immunodeficiency due to STIM1 deficiency ⚠
p.His240Tyr Multiple submitters tubular aggregate myopathy ⚠
p.His266Tyr Multiple submitters Stormorken syndrome ⚠
p.His27Gln Multiple submitters Stormorken syndrome ⚠
p.His470Gln Multiple submitters Inborn genetic diseases
p.His619Arg Multiple submitters tubular aggregate myopathy ⚠
p.Ile383Thr Multiple submitters Stormorken syndrome ⚠
p.Ile591Thr Multiple submitters Stormorken syndrome ⚠
p.Leu114Phe Multiple submitters combined immunodeficiency due to STIM1 deficiency ⚠
p.Lys385Arg Multiple submitters combined immunodeficiency due to STIM1 deficiency ⚠
p.Lys703Arg Multiple submitters Stormorken syndrome ⚠
p.Lys703Asn Multiple submitters Stormorken syndrome ⚠
p.Lys708Arg Multiple submitters Stormorken syndrome ⚠
p.Lys73Arg Multiple submitters Stormorken syndrome ⚠
p.Met181Val Multiple submitters STIM1-related disorder ⚠
p.Met215Leu Multiple submitters ⚠
p.Met245del Multiple submitters Stormorken syndrome
p.Met461Thr Multiple submitters combined immunodeficiency due to STIM1 deficiency ⚠
p.Met473Ile Multiple submitters Inborn genetic diseases ⚠
p.Met480Thr Multiple submitters combined immunodeficiency due to STIM1 deficiency ⚠
p.Pro202Leu Multiple submitters Inborn genetic diseases ⚠
p.Ser237Phe Multiple submitters tubular aggregate myopathy ⚠
p.Ser337Cys Multiple submitters combined immunodeficiency due to STIM1 deficiency ⚠
p.Ser36Leu Multiple submitters combined immunodeficiency due to STIM1 deficiency ⚠
p.Ser399Asn Multiple submitters Inborn genetic diseases ⚠
p.Ser552Leu Multiple submitters combined immunodeficiency due to STIM1 deficiency ⚠
p.Ser555_Met558delinsLeuProArg Multiple submitters myopathy, tubular aggregate, 1
p.Ser559Asn Multiple submitters tubular aggregate myopathy ⚠
p.Ser587Arg Multiple submitters tubular aggregate myopathy ⚠
p.Ser598Phe Multiple submitters ⚠
p.Thr153Ile Multiple submitters combined immunodeficiency due to STIM1 deficiency ⚠
p.Thr307Ala Multiple submitters Inborn genetic diseases ⚠
p.Thr535Ala Multiple submitters combined immunodeficiency due to STIM1 deficiency ⚠
p.Trp460Gly Multiple submitters Inborn genetic diseases
p.Tyr231Cys Multiple submitters combined immunodeficiency due to STIM1 deficiency ⚠
p.Val134Met Multiple submitters Stormorken syndrome ⚠
p.Val221Ile Multiple submitters tubular aggregate myopathy ⚠
p.Val224Met Multiple submitters Inborn genetic diseases ⚠
p.Val324Ile Multiple submitters Stormorken syndrome ⚠
p.Val375Leu Multiple submitters combined immunodeficiency due to STIM1 deficiency ⚠
c.1137+3G>A Single submitter Stormorken syndrome
c.139+4A>G Single submitter Stormorken syndrome
c.139+5G>C Single submitter
c.1474+16_1474+17delinsTG Single submitter Stormorken syndrome
c.1474+17_1474+18delinsGT Single submitter tubular aggregate myopathy
c.1567+5G>C Single submitter
c.1634+108G>A Single submitter
c.1634+141C>T Single submitter
c.1634+166_1634+174del Single submitter
c.1634+167ACC[8] Single submitter
c.1634+184C>T Single submitter
c.1634+194_1634+196del Single submitter
c.1634+1G>A Single submitter Stormorken syndrome
c.1634+1G>T Single submitter Stormorken syndrome
c.1634+200dup Single submitter
c.1634+217T>A Single submitter
c.1634+2183G>C Single submitter
c.1634+2184_1634+2186dup Single submitter
c.1634+221C>G Single submitter
c.1634+245C>T Single submitter myopathy, tubular aggregate, 1
c.1634+249T>G Single submitter
c.1634+28C>G Single submitter
c.1634+60G>A Single submitter myopathy, tubular aggregate, 1
c.1634+80T>A Single submitter
c.1634+93A>G Single submitter
c.1635-10del Single submitter Stormorken syndrome
c.270+23215T>C Single submitter
c.270+3G>C Single submitter
c.270+5G>T Single submitter Stormorken syndrome
c.271-14C>G Single submitter tubular aggregate myopathy
c.271-3C>T Single submitter Stormorken syndrome
c.385+10749C>T Single submitter combined immunodeficiency due to STIM1 deficiency
c.386-11734G>A Single submitter combined immunodeficiency due to STIM1 deficiency
c.386-7164T>A Single submitter combined immunodeficiency due to STIM1 deficiency
c.498-4A>G Single submitter tubular aggregate myopathy
c.792-3C>T Single submitter combined immunodeficiency due to STIM1 deficiency
c.792-3del Single submitter combined immunodeficiency due to STIM1 deficiency
c.792-5C>G Single submitter Stormorken syndrome
c.-7T>G Single submitter
p.Ala194Ser Single submitter combined immunodeficiency due to STIM1 deficiency ⚠
p.Ala268Pro Single submitter ⚠
p.Ala268Val Single submitter Stormorken syndrome ⚠
p.Ala293Thr Single submitter tubular aggregate myopathy ⚠
p.Ala327Pro Single submitter tubular aggregate myopathy ⚠
p.Ala327Thr Single submitter tubular aggregate myopathy ⚠
p.Ala327Val Single submitter Inborn genetic diseases ⚠
p.Ala346Thr Single submitter Stormorken syndrome ⚠
p.Ala380Thr Single submitter combined immunodeficiency due to STIM1 deficiency ⚠
p.Ala38Thr Single submitter Stormorken syndrome ⚠
p.Ala452Gly Single submitter combined immunodeficiency due to STIM1 deficiency ⚠
p.Ala453Ser Single submitter Stormorken syndrome ⚠
p.Ala574Val Single submitter combined immunodeficiency due to STIM1 deficiency ⚠
p.Ala581Thr Single submitter combined immunodeficiency due to STIM1 deficiency ⚠
p.Ala608Thr Single submitter Stormorken syndrome ⚠
p.Ala608Val Single submitter Inborn genetic diseases ⚠
p.Ala679Thr Single submitter combined immunodeficiency due to STIM1 deficiency ⚠
p.Ala67Pro Single submitter Inborn genetic diseases ⚠
p.Ala67Thr Single submitter Stormorken syndrome ⚠
p.Arg155Leu Single submitter combined immunodeficiency due to STIM1 deficiency ⚠
p.Arg166= Single submitter Stormorken syndrome
p.Arg184Gln Single submitter tubular aggregate myopathy ⚠
p.Arg187Gln Single submitter tubular aggregate myopathy ⚠
p.Arg207His Single submitter combined immunodeficiency due to STIM1 deficiency ⚠
p.Arg207Ser Single submitter ⚠
p.Arg235Cys Single submitter Stormorken syndrome ⚠
p.Arg235Gly Single submitter combined immunodeficiency due to STIM1 deficiency ⚠
p.Arg273Cys Single submitter
p.Arg273His Single submitter combined immunodeficiency due to STIM1 deficiency ⚠
p.Arg287Cys Single submitter tubular aggregate myopathy ⚠
p.Arg287His Single submitter combined immunodeficiency due to STIM1 deficiency ⚠
p.Arg287Ser Single submitter Stormorken syndrome ⚠
p.Arg299Trp Single submitter Inborn genetic diseases ⚠
p.Arg313Cys Single submitter Stormorken syndrome ⚠
p.Arg313His Single submitter Stormorken syndrome ⚠
p.Arg325Gln Single submitter Stormorken syndrome ⚠
p.Arg325Leu Single submitter Stormorken syndrome ⚠
p.Arg424Gln Single submitter combined immunodeficiency due to STIM1 deficiency
p.Arg424Trp Single submitter Stormorken syndrome ⚠
p.Arg426Cys Single submitter tubular aggregate myopathy ⚠
p.Arg531Gln Single submitter Stormorken syndrome ⚠
p.Arg545Ser Single submitter ⚠
p.Arg563Cys Single submitter tubular aggregate myopathy ⚠
p.Arg563His Single submitter Stormorken syndrome ⚠
p.Arg563Pro Single submitter combined immunodeficiency due to STIM1 deficiency ⚠
p.Arg589Gln Single submitter combined immunodeficiency due to STIM1 deficiency ⚠
p.Arg69His Single submitter Stormorken syndrome ⚠
p.Asn363Ser Single submitter ⚠
p.Asn39Ser Single submitter Stormorken syndrome ⚠
p.Asn443Lys Single submitter ⚠
p.Asn467Lys Single submitter ⚠
p.Asn467Ser Single submitter combined immunodeficiency due to STIM1 deficiency ⚠
p.Asn580Asp Single submitter Stormorken syndrome ⚠
p.Asn580His Single submitter Inborn genetic diseases ⚠
p.Asn80Asp Single submitter Stormorken syndrome ⚠
p.Asn80Ser Single submitter tubular aggregate myopathy ⚠
p.Asp288Ala Single submitter combined immunodeficiency due to STIM1 deficiency
p.Asp457Glu Single submitter combined immunodeficiency due to STIM1 deficiency
p.Asp478Glu Single submitter tubular aggregate myopathy ⚠
p.Asp481Gly Single submitter ⚠
p.Asp60Tyr Single submitter Stormorken syndrome ⚠
p.Asp76Gly Single submitter ⚠
p.Asp77Asn Single submitter ⚠
p.Asp89Ala Single submitter tubular aggregate myopathy ⚠
p.Asp89Glu Single submitter Stormorken syndrome ⚠
p.Cys49Tyr Single submitter combined immunodeficiency due to STIM1 deficiency ⚠
p.Gln19His Single submitter combined immunodeficiency due to STIM1 deficiency ⚠
p.Gln360Arg Single submitter tubular aggregate myopathy
p.Gln372His Single submitter tubular aggregate myopathy ⚠
p.Gln414Leu Single submitter Stormorken syndrome ⚠
p.Gln431Lys Single submitter tubular aggregate myopathy ⚠
p.Gln432His Single submitter combined immunodeficiency due to STIM1 deficiency ⚠
p.Gln491Lys Single submitter Inborn genetic diseases ⚠
p.Gln527Arg Single submitter tubular aggregate myopathy ⚠
p.Gln532His Single submitter combined immunodeficiency due to STIM1 deficiency ⚠
p.Gln532Ter Single submitter combined immunodeficiency due to STIM1 deficiency
p.Gln538Arg Single submitter Stormorken syndrome ⚠
p.Gln538Glu Single submitter Stormorken syndrome ⚠
p.Gln544His Single submitter Stormorken syndrome ⚠
p.Glu128Val Single submitter combined immunodeficiency due to STIM1 deficiency
p.Glu255Gly Single submitter Stormorken syndrome ⚠
p.Glu320del Single submitter combined immunodeficiency due to STIM1 deficiency
p.Glu336Asp Single submitter combined immunodeficiency due to STIM1 deficiency ⚠
p.Glu42Lys Single submitter Stormorken syndrome ⚠
p.Glu434Lys Single submitter tubular aggregate myopathy ⚠
p.Glu483Asp Single submitter ⚠
p.Glu577Lys Single submitter combined immunodeficiency due to STIM1 deficiency ⚠
p.Glu592Gly Single submitter Stormorken syndrome ⚠
p.Glu592Lys Single submitter combined immunodeficiency due to STIM1 deficiency ⚠
p.Glu59Gln Single submitter Stormorken syndrome ⚠
p.Glu629Asp Single submitter combined immunodeficiency due to STIM1 deficiency ⚠
p.Glu90Asp Single submitter Stormorken syndrome ⚠
p.Gly161Asp Single submitter Stormorken syndrome ⚠
p.Gly176Ala Single submitter Stormorken syndrome ⚠
p.Gly33Glu Single submitter combined immunodeficiency due to STIM1 deficiency ⚠
p.Gly379= Single submitter Stormorken syndrome
p.Gly392Ala Single submitter Stormorken syndrome ⚠
p.Gly446Asp Single submitter combined immunodeficiency due to STIM1 deficiency ⚠
p.Gly512Ser Single submitter
p.Gly542Arg Single submitter Stormorken syndrome
p.Gly586Asp Single submitter combined immunodeficiency due to STIM1 deficiency ⚠
p.Gly586Val Single submitter combined immunodeficiency due to STIM1 deficiency ⚠
p.Gly593Arg Single submitter Stormorken syndrome ⚠
p.Gly597Glu Single submitter Stormorken syndrome ⚠
p.Gly701Asp Single submitter Stormorken syndrome ⚠
p.Gly81Cys Single submitter combined immunodeficiency due to STIM1 deficiency ⚠
p.Gly81Ser Single submitter ⚠
p.His105Asn Single submitter combined immunodeficiency due to STIM1 deficiency ⚠
p.His105Asp Single submitter combined immunodeficiency due to STIM1 deficiency ⚠
p.His105Gln Single submitter Stormorken syndrome ⚠
p.His105Pro Single submitter tubular aggregate myopathy ⚠
p.His162Arg Single submitter tubular aggregate myopathy ⚠
p.His208Arg Single submitter combined immunodeficiency due to STIM1 deficiency ⚠
p.His208Tyr Single submitter Stormorken syndrome ⚠
p.His210Gln Single submitter Stormorken syndrome ⚠
p.His259Arg Single submitter tubular aggregate myopathy ⚠
p.His266Gln Single submitter combined immunodeficiency due to STIM1 deficiency ⚠
p.His27Asp Single submitter Stormorken syndrome ⚠
p.His338Tyr Single submitter ⚠
p.His355Asp Single submitter Stormorken syndrome ⚠
p.His355Tyr Single submitter Stormorken syndrome ⚠
p.His395Arg Single submitter combined immunodeficiency due to STIM1 deficiency ⚠
p.His428Gln Single submitter tubular aggregate myopathy ⚠
p.His428Tyr Single submitter combined immunodeficiency due to STIM1 deficiency ⚠
p.His448Gln Single submitter combined immunodeficiency due to STIM1 deficiency ⚠
p.His448Pro Single submitter tubular aggregate myopathy ⚠
p.His448Tyr Single submitter Stormorken syndrome ⚠
p.His539Arg Single submitter Stormorken syndrome ⚠
p.His539Tyr Single submitter combined immunodeficiency due to STIM1 deficiency ⚠
p.His549Pro Single submitter Stormorken syndrome ⚠
p.His588Asn Single submitter combined immunodeficiency due to STIM1 deficiency ⚠
p.His595Tyr Single submitter combined immunodeficiency due to STIM1 deficiency ⚠
p.His99Arg Single submitter combined immunodeficiency due to STIM1 deficiency ⚠
p.His99Asp Single submitter combined immunodeficiency due to STIM1 deficiency
p.His99Tyr Single submitter Stormorken syndrome
p.Ile115Arg Single submitter combined immunodeficiency due to STIM1 deficiency
p.Ile142Thr Single submitter Stormorken syndrome ⚠
p.Ile220Val Single submitter combined immunodeficiency due to STIM1 deficiency ⚠
p.Ile364Met Single submitter combined immunodeficiency due to STIM1 deficiency ⚠
p.Ile409Val Single submitter Inborn genetic diseases ⚠
p.Ile433Met Single submitter ⚠
p.Ile456Thr Single submitter Stormorken syndrome ⚠
p.Ile709Phe Single submitter Stormorken syndrome
p.Leu12_Trp13insLeu Single submitter tubular aggregate myopathy
p.Leu15Arg Single submitter Inborn genetic diseases ⚠
p.Leu15Val Single submitter Inborn genetic diseases ⚠
p.Leu16Phe Single submitter Stormorken syndrome ⚠
p.Leu17Arg Single submitter combined immunodeficiency due to STIM1 deficiency ⚠
p.Leu17del Single submitter Stormorken syndrome
p.Leu17Pro Single submitter combined immunodeficiency due to STIM1 deficiency ⚠
p.Leu199Ile Single submitter Inborn genetic diseases ⚠
p.Leu204= Single submitter Stormorken syndrome
p.Leu204Phe Single submitter combined immunodeficiency due to STIM1 deficiency ⚠
p.Leu204Val Single submitter tubular aggregate myopathy ⚠
p.Leu205Ser Single submitter combined immunodeficiency due to STIM1 deficiency ⚠
p.Leu23His Single submitter combined immunodeficiency due to STIM1 deficiency ⚠
p.Leu23Phe Single submitter combined immunodeficiency due to STIM1 deficiency ⚠
p.Leu251Ser Single submitter tubular aggregate myopathy ⚠
p.Leu321Met Single submitter Stormorken syndrome ⚠
p.Leu321Ser Single submitter Stormorken syndrome ⚠
p.Leu534Pro Single submitter combined immunodeficiency due to STIM1 deficiency ⚠
p.Leu579Phe Single submitter tubular aggregate myopathy ⚠
p.Leu7Pro Single submitter combined immunodeficiency due to STIM1 deficiency ⚠
p.Leu96Val Single submitter Inborn genetic diseases ⚠
p.Lys243del Single submitter Stormorken syndrome
p.Lys246Asn Single submitter combined immunodeficiency due to STIM1 deficiency ⚠
p.Lys246Glu Single submitter ⚠
p.Lys279Glu Single submitter combined immunodeficiency due to STIM1 deficiency ⚠
p.Lys285Glu Single submitter combined immunodeficiency due to STIM1 deficiency ⚠
p.Lys301Arg Single submitter Stormorken syndrome ⚠
p.Lys315Arg Single submitter combined immunodeficiency due to STIM1 deficiency ⚠
p.Lys315Asn Single submitter Stormorken syndrome ⚠