Sugi Variant

Sugi Variant/STING1

STING1 — 336 ClinVar variants

All ClinVar germline STING1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 162 flagged for review →

5 Pathogenic · 1 Pathogenic/Likely pathogenic · 5 Likely pathogenic · 27 Conflicting · 7 Benign · 13 Benign/Likely benign · 99 Likely benign · 179 Uncertain significance

Full STING1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 162

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 5

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 19

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

Predictors lean, ClinVar uncertain 116

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

Predictors split 22

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

All STING1 variants

Pathogenic 5

  • p.Arg284Ser Multiple submitters STING-associated vasculopathy with onset in infancy
  • p.Val155Met Multiple submitters TMEM173-related disorders ⚠
  • p.Arg284Thr Single submitter STING-associated vasculopathy with onset in infancy
  • p.Asn154Ser Single submitter STING-associated vasculopathy with onset in infancy ⚠
  • p.Val147Leu No assertion criteria STING-associated vasculopathy with onset in infancy ⚠

Pathogenic/Likely pathogenic 1

  • p.Arg281Gln Multiple submitters STING-associated vasculopathy with onset in infancy ⚠

Likely pathogenic 5

  • p.Arg284Gly Single submitter
  • p.Asp319Gly Single submitter STING-associated vasculopathy with onset in infancy ⚠
  • p.Cys206Gly Single submitter STING-associated vasculopathy with onset in infancy
  • p.Gly158Val Single submitter STING-associated vasculopathy with onset in infancy
  • p.Phe153Ile Single submitter STING-associated vasculopathy with onset in infancy ⚠

Conflicting classifications of pathogenicity 27

Benign 7

Benign/Likely benign 13

  • c.946+12G>A Multiple submitters STING-associated vasculopathy with onset in infancy
  • c.947-18C>G Multiple submitters STING-associated vasculopathy with onset in infancy
  • p.Ala254= Multiple submitters autoinflammatory syndrome
  • p.Ala313Thr Multiple submitters autoinflammatory syndrome
  • p.Arg220His Multiple submitters autoinflammatory syndrome
  • p.Arg293Gln Multiple submitters autoinflammatory syndrome
  • p.Arg375Leu Multiple submitters STING-associated vasculopathy with onset in infancy
  • p.Arg71His Multiple submitters STING-associated vasculopathy with onset in infancy
  • p.Gly230Ala Multiple submitters STING-associated vasculopathy with onset in infancy
  • p.Leu170= Multiple submitters STING-associated vasculopathy with onset in infancy
  • p.Pro116= Multiple submitters STING-associated vasculopathy with onset in infancy
  • p.Val194Leu Multiple submitters autoinflammatory syndrome
  • p.Val48= Multiple submitters STING-associated vasculopathy with onset in infancy

Likely benign 99

  • c.412-7T>C Multiple submitters STING-associated vasculopathy with onset in infancy
  • c.760-4C>G Multiple submitters STING-associated vasculopathy with onset in infancy
  • c.760-9C>A Multiple submitters autoinflammatory syndrome
  • c.946+19G>T Multiple submitters STING-associated vasculopathy with onset in infancy
  • c.947-9C>T Multiple submitters STING-associated vasculopathy with onset in infancy
  • p.Arg191Trp Multiple submitters STING-associated vasculopathy with onset in infancy
  • p.Arg197= Multiple submitters STING-associated vasculopathy with onset in infancy
  • p.Asn242= Multiple submitters STING-associated vasculopathy with onset in infancy
  • p.Ser272= Multiple submitters STING-associated vasculopathy with onset in infancy
  • p.Ser324= Multiple submitters STING-associated vasculopathy with onset in infancy
  • p.Ser324Leu Multiple submitters STING-associated vasculopathy with onset in infancy
  • p.Thr376= Multiple submitters STING-associated vasculopathy with onset in infancy
  • p.Tyr245= Multiple submitters STING-associated vasculopathy with onset in infancy
  • c.227+11G>T Single submitter STING-associated vasculopathy with onset in infancy
  • c.227+17C>T Single submitter
  • c.227+18C>A Single submitter STING-associated vasculopathy with onset in infancy
  • c.227+9C>G Single submitter STING-associated vasculopathy with onset in infancy
  • c.228-20_228-14del Single submitter STING-associated vasculopathy with onset in infancy
  • c.228-27GGTCTGG[3] Single submitter
  • c.228-32_228-19del Single submitter STING-associated vasculopathy with onset in infancy
  • c.228-5C>T Single submitter STING-associated vasculopathy with onset in infancy
  • c.412-18A>G Single submitter STING-associated vasculopathy with onset in infancy
  • c.412-8G>A Single submitter STING-associated vasculopathy with onset in infancy
  • c.520+11C>A Single submitter STING-associated vasculopathy with onset in infancy
  • c.520+11CT[2] Single submitter STING-associated vasculopathy with onset in infancy
  • c.520+15C>T Single submitter STING-associated vasculopathy with onset in infancy
  • c.520+19C>T Single submitter STING-associated vasculopathy with onset in infancy
  • c.521-10C>T Single submitter STING-associated vasculopathy with onset in infancy
  • c.759+14G>A Single submitter STING-associated vasculopathy with onset in infancy
  • c.759+15G>A Single submitter STING-associated vasculopathy with onset in infancy
  • c.759+15G>T Single submitter STING-associated vasculopathy with onset in infancy
  • c.759+19G>A Single submitter STING-associated vasculopathy with onset in infancy
  • c.760-13T>C Single submitter STING-associated vasculopathy with onset in infancy
  • c.760-16C>T Single submitter STING-associated vasculopathy with onset in infancy
  • c.760-7C>T Single submitter STING-associated vasculopathy with onset in infancy
  • c.946+12_946+27del Single submitter STING-associated vasculopathy with onset in infancy
  • c.946+17G>A Single submitter STING-associated vasculopathy with onset in infancy
  • c.946+19G>A Single submitter STING-associated vasculopathy with onset in infancy
  • c.946+7G>A Single submitter STING-associated vasculopathy with onset in infancy
  • c.946+8G>T Single submitter STING-associated vasculopathy with onset in infancy
  • c.946+9T>C Single submitter STING-associated vasculopathy with onset in infancy
  • c.947-19C>T Single submitter STING-associated vasculopathy with onset in infancy
  • c.947-20C>G Single submitter STING-associated vasculopathy with onset in infancy
  • p.Ala146= Single submitter STING-associated vasculopathy with onset in infancy
  • p.Ala193= Single submitter STING-associated vasculopathy with onset in infancy
  • p.Ala277= Single submitter STING-associated vasculopathy with onset in infancy
  • p.Ala302= Single submitter STING-associated vasculopathy with onset in infancy
  • p.Ala350= Single submitter
  • p.Arg14= Single submitter STING-associated vasculopathy with onset in infancy
  • p.Arg238= Single submitter STING-associated vasculopathy with onset in infancy
  • p.Arg293= Single submitter STING-associated vasculopathy with onset in infancy
  • p.Arg331= Single submitter STING-associated vasculopathy with onset in infancy
  • p.Arg71= Single submitter STING-associated vasculopathy with onset in infancy
  • p.Asn154= Single submitter STING-associated vasculopathy with onset in infancy
  • p.Asn250= Single submitter STING-associated vasculopathy with onset in infancy
  • p.Cys29= Single submitter STING-associated vasculopathy with onset in infancy
  • p.Gln359= Single submitter STING-associated vasculopathy with onset in infancy
  • p.Glu282= Single submitter STING-associated vasculopathy with onset in infancy
  • p.Glu41= Single submitter STING-associated vasculopathy with onset in infancy
  • p.Gly255= Single submitter
  • p.Gly35= Single submitter STING-associated vasculopathy with onset in infancy
  • p.Gly62= Single submitter STING-associated vasculopathy with onset in infancy
  • p.His16= Single submitter STING-associated vasculopathy with onset in infancy
  • p.His332= Single submitter STING-associated vasculopathy with onset in infancy
  • p.His50= Single submitter STING-associated vasculopathy with onset in infancy
  • p.His72= Single submitter STING-associated vasculopathy with onset in infancy
  • p.Ile10= Single submitter STING-associated vasculopathy with onset in infancy
  • p.Ile165= Single submitter STING-associated vasculopathy with onset in infancy
  • p.Ile200= Single submitter STING-associated vasculopathy with onset in infancy
  • p.Leu134= Single submitter STING-associated vasculopathy with onset in infancy
  • p.Leu175= Single submitter STING-associated vasculopathy with onset in infancy
  • p.Leu189= Single submitter STING-associated vasculopathy with onset in infancy
  • p.Leu190= Single submitter STING-associated vasculopathy with onset in infancy
  • p.Leu212= Single submitter STING-associated vasculopathy with onset in infancy
  • p.Leu222= Single submitter STING-associated vasculopathy with onset in infancy
  • p.Leu259= Single submitter STING-associated vasculopathy with onset in infancy
  • p.Leu295= Single submitter STING-associated vasculopathy with onset in infancy
  • p.Leu325= Single submitter STING-associated vasculopathy with onset in infancy
  • p.Leu33= Single submitter STING-associated vasculopathy with onset in infancy
  • p.Leu363= Single submitter STING-associated vasculopathy with onset in infancy
  • p.Leu374= Single submitter STING-associated vasculopathy with onset in infancy
  • p.Leu47= Single submitter STING-associated vasculopathy with onset in infancy
  • p.Leu58_Leu59= Single submitter STING-associated vasculopathy with onset in infancy
  • p.Leu60= Single submitter STING-associated vasculopathy with onset in infancy
  • p.Lys20= Single submitter STING-associated vasculopathy with onset in infancy
  • p.Lys370= Single submitter STING-associated vasculopathy with onset in infancy
  • p.Pro11= Single submitter STING-associated vasculopathy with onset in infancy
  • p.Pro361= Single submitter STING-associated vasculopathy with onset in infancy
  • p.Pro92= Single submitter STING-associated vasculopathy with onset in infancy
  • p.Ser127= Single submitter STING-associated vasculopathy with onset in infancy
  • p.Ser195= Single submitter STING-associated vasculopathy with onset in infancy
  • p.Ser322= Single submitter STING-associated vasculopathy with onset in infancy
  • p.Ser326= Single submitter STING-associated vasculopathy with onset in infancy
  • p.Ser355= Single submitter STING-associated vasculopathy with onset in infancy
  • p.Ter380= Single submitter STING-associated vasculopathy with onset in infancy
  • p.Thr356= Single submitter STING-associated vasculopathy with onset in infancy
  • p.Tyr240= Single submitter STING-associated vasculopathy with onset in infancy
  • p.Tyr261= Single submitter STING-associated vasculopathy with onset in infancy
  • p.Tyr46Cys Single submitter

Uncertain significance 179

  • c.946+1G>T Multiple submitters autoinflammatory syndrome
  • p.Ala22Asp Multiple submitters STING-associated vasculopathy with onset in infancy ⚠
  • p.Ala233Thr Multiple submitters autoinflammatory syndrome
  • p.Ala254Val Multiple submitters autoinflammatory syndrome ⚠
  • p.Ala262Thr Multiple submitters autoinflammatory syndrome ⚠
  • p.Ala350Val Multiple submitters autoinflammatory syndrome ⚠
  • p.Arg178Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg178Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Arg197Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg220Cys Multiple submitters STING-associated vasculopathy with onset in infancy ⚠
  • p.Arg253Trp Multiple submitters STING-associated vasculopathy with onset in infancy ⚠
  • p.Arg310Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg334Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg45Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Arg71Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Arg78Gln Multiple submitters STING-associated vasculopathy with onset in infancy ⚠
  • p.Arg86Trp Multiple submitters STING-associated vasculopathy with onset in infancy ⚠
  • p.Asn183Ser Multiple submitters STING-associated vasculopathy with onset in infancy ⚠
  • p.Asp223Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Gln252Arg Multiple submitters STING-associated vasculopathy with onset in infancy ⚠
  • p.Gln276Glu Multiple submitters STING-associated vasculopathy with onset in infancy ⚠
  • p.Glu286Lys Multiple submitters STING-associated vasculopathy with onset in infancy ⚠
  • p.Glu336Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Gly138Ala Multiple submitters autoinflammatory syndrome ⚠
  • p.Gly251Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Gly37Arg Multiple submitters STING-associated vasculopathy with onset in infancy ⚠
  • p.His42Pro Multiple submitters STING-associated vasculopathy with onset in infancy ⚠
  • p.Leu168Pro Multiple submitters Inborn genetic diseases ⚠
  • p.Leu23Phe Multiple submitters STING-associated vasculopathy with onset in infancy ⚠
  • p.Leu311Pro Multiple submitters STING-associated vasculopathy with onset in infancy ⚠
  • p.Lys338fs Multiple submitters STING-associated vasculopathy with onset in infancy
  • p.Pro11Leu Multiple submitters STING-associated vasculopathy with onset in infancy
  • p.Pro303His Multiple submitters STING-associated vasculopathy with onset in infancy ⚠
  • p.Ser241Thr Multiple submitters STING-associated vasculopathy with onset in infancy ⚠
  • p.Ser9Phe Multiple submitters STING-associated vasculopathy with onset in infancy ⚠
  • p.Thr342Asn Multiple submitters STING-associated vasculopathy with onset in infancy ⚠
  • p.Thr376Arg Multiple submitters STING-associated vasculopathy with onset in infancy ⚠
  • p.Thr376Met Multiple submitters Inborn genetic diseases ⚠
  • p.Val343Ala Multiple submitters STING-associated vasculopathy with onset in infancy ⚠
  • c.227+10T>A Single submitter autoinflammatory syndrome
  • c.227+1G>A Single submitter STING-associated vasculopathy with onset in infancy
  • c.227+3G>A Single submitter STING-associated vasculopathy with onset in infancy
  • c.227+4A>G Single submitter STING-associated vasculopathy with onset in infancy
  • c.228-3C>T Single submitter STING-associated vasculopathy with onset in infancy
  • c.759+3A>G Single submitter STING-associated vasculopathy with onset in infancy
  • c.760-2_766delinsTACCT Single submitter STING-associated vasculopathy with onset in infancy
  • c.946+1G>A Single submitter STING-associated vasculopathy with onset in infancy
  • c.946+5G>A Single submitter STING-associated vasculopathy with onset in infancy
  • c.946+5G>T Single submitter STING-associated vasculopathy with onset in infancy
  • c.946+6G>A Single submitter STING-associated vasculopathy with onset in infancy
  • c.946+6G>C Single submitter STING-associated vasculopathy with onset in infancy
  • c.947-3C>T Single submitter STING-associated vasculopathy with onset in infancy
  • p.Ala140Thr Single submitter STING-associated vasculopathy with onset in infancy ⚠
  • p.Ala160Val Single submitter STING-associated vasculopathy with onset in infancy ⚠
  • p.Ala177Thr Single submitter STING-associated vasculopathy with onset in infancy ⚠
  • p.Ala21fs Single submitter STING-associated vasculopathy with onset in infancy
  • p.Ala262Gly Single submitter STING-associated vasculopathy with onset in infancy
  • p.Ala270Thr Single submitter STING-associated vasculopathy with onset in infancy ⚠
  • p.Ala288Thr Single submitter STING-associated vasculopathy with onset in infancy ⚠
  • p.Ala288Val Single submitter Inborn genetic diseases ⚠
  • p.Ala300Thr Single submitter STING-associated vasculopathy with onset in infancy ⚠
  • p.Ala318Pro Single submitter STING-associated vasculopathy with onset in infancy ⚠
  • p.Ala318Ser Single submitter STING-associated vasculopathy with onset in infancy ⚠
  • p.Arg14fs Single submitter STING-associated vasculopathy with onset in infancy
  • p.Arg169= Single submitter STING-associated vasculopathy with onset in infancy
  • p.Arg169Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg169Trp Single submitter STING-associated vasculopathy with onset in infancy ⚠
  • p.Arg180Leu Single submitter STING-associated vasculopathy with onset in infancy ⚠
  • p.Arg180Ter Single submitter STING-associated vasculopathy with onset in infancy
  • p.Arg191Gln Single submitter STING-associated vasculopathy with onset in infancy ⚠
  • p.Arg197Trp Single submitter STING-associated vasculopathy with onset in infancy ⚠
  • p.Arg220Leu Single submitter STING-associated vasculopathy with onset in infancy ⚠
  • p.Arg238Trp Single submitter Inborn genetic diseases ⚠
  • p.Arg284Lys Single submitter STING-associated vasculopathy with onset in infancy
  • p.Arg331Trp Single submitter STING-associated vasculopathy with onset in infancy ⚠
  • p.Arg334Trp Single submitter STING-associated vasculopathy with onset in infancy ⚠
  • p.Arg375Cys Single submitter STING-associated vasculopathy with onset in infancy ⚠
  • p.Arg45Gln Single submitter STING-associated vasculopathy with onset in infancy ⚠
  • p.Arg71Cys Single submitter STING-associated vasculopathy with onset in infancy ⚠
  • p.Arg71Gln Single submitter STING-associated vasculopathy with onset in infancy
  • p.Arg76Trp Single submitter Inborn genetic diseases ⚠
  • p.Arg78Pro Single submitter STING-associated vasculopathy with onset in infancy ⚠
  • p.Asn183His Single submitter STING-associated vasculopathy with onset in infancy ⚠
  • p.Asp231Asn Single submitter STING-associated vasculopathy with onset in infancy ⚠
  • p.Asp237Gly Single submitter STING-associated vasculopathy with onset in infancy ⚠
  • p.Asp237Tyr Single submitter STING-associated vasculopathy with onset in infancy ⚠
  • p.Asp283Asn Single submitter STING-associated vasculopathy with onset in infancy ⚠
  • p.Asp377Tyr Single submitter STING-associated vasculopathy with onset in infancy ⚠
  • p.Cys309Tyr Single submitter STING-associated vasculopathy with onset in infancy ⚠
  • p.Cys64Tyr Single submitter STING-associated vasculopathy with onset in infancy
  • p.Gln184Leu Single submitter STING-associated vasculopathy with onset in infancy ⚠
  • p.Gln228Arg Single submitter STING-associated vasculopathy with onset in infancy ⚠
  • p.Gln273Ter Single submitter STING-associated vasculopathy with onset in infancy
  • p.Gln327Lys Single submitter STING-associated vasculopathy with onset in infancy ⚠
  • p.Gln327Pro Single submitter STING-associated vasculopathy with onset in infancy ⚠
  • p.Gln335Lys Single submitter STING-associated vasculopathy with onset in infancy ⚠
  • p.Gln359Lys Single submitter Inborn genetic diseases ⚠
  • p.Glu143Ala Single submitter STING-associated vasculopathy with onset in infancy ⚠
  • p.Glu143Ter Single submitter STING-associated vasculopathy with onset in infancy
  • p.Glu174Lys Single submitter STING-associated vasculopathy with onset in infancy ⚠
  • p.Glu282Gly Single submitter STING-associated vasculopathy with onset in infancy ⚠
  • p.Glu282Lys Single submitter STING-associated vasculopathy with onset in infancy ⚠
  • p.Glu304fs Single submitter STING-associated vasculopathy with onset in infancy
  • p.Glu304Gly Single submitter STING-associated vasculopathy with onset in infancy ⚠
  • p.Glu316Gly Single submitter STING-associated vasculopathy with onset in infancy ⚠
  • p.Glu339Lys Single submitter STING-associated vasculopathy with onset in infancy ⚠
  • p.Glu362Lys Single submitter STING-associated vasculopathy with onset in infancy ⚠
  • p.Glu69fs Single submitter STING-associated vasculopathy with onset in infancy
  • p.Gly166= Single submitter autoinflammatory syndrome
  • p.Gly166Arg Single submitter STING-associated vasculopathy with onset in infancy ⚠
  • p.Gly166Ter Single submitter STING-associated vasculopathy with onset in infancy
  • p.Gly17Glu Single submitter STING-associated vasculopathy with onset in infancy ⚠
  • p.Gly192Asp Single submitter Inborn genetic diseases ⚠
  • p.Gly207Glu Single submitter STING-associated vasculopathy with onset in infancy ⚠
  • p.Gly207Val Single submitter STING-associated vasculopathy with onset in infancy ⚠
  • p.Gly230Cys Single submitter STING-associated vasculopathy with onset in infancy ⚠
  • p.Gly230Ser Single submitter STING-associated vasculopathy with onset in infancy
  • p.Gly37Glu Single submitter Inborn genetic diseases ⚠
  • p.Gly57Val Single submitter STING-associated vasculopathy with onset in infancy ⚠
  • p.His16fs Single submitter STING-associated vasculopathy with onset in infancy
  • p.His185Tyr Single submitter Inborn genetic diseases ⚠
  • p.His232Cys Single submitter STING-associated vasculopathy with onset in infancy
  • p.His232delinsGlnTer Single submitter STING-associated vasculopathy with onset in infancy
  • p.His3Tyr Single submitter STING-associated vasculopathy with onset in infancy ⚠
  • p.His74Tyr Single submitter STING-associated vasculopathy with onset in infancy ⚠
  • p.His7Gln Single submitter STING-associated vasculopathy with onset in infancy ⚠
  • p.Ile132Asn Single submitter STING-associated vasculopathy with onset in infancy ⚠
  • p.Ile132Ser Single submitter STING-associated vasculopathy with onset in infancy ⚠
  • p.Ile144Thr Single submitter Inborn genetic diseases ⚠
  • p.Ile165Leu Single submitter STING-associated vasculopathy with onset in infancy ⚠
  • p.Ile165Val Single submitter STING-associated vasculopathy with onset in infancy ⚠
  • p.Ile244Phe Single submitter STING-associated vasculopathy with onset in infancy ⚠
  • p.Ile365Val Single submitter STING-associated vasculopathy with onset in infancy ⚠
  • p.Leu175Pro Single submitter STING-associated vasculopathy with onset in infancy ⚠
  • p.Leu201Pro Single submitter STING-associated vasculopathy with onset in infancy ⚠
  • p.Leu204= Single submitter STING-associated vasculopathy with onset in infancy
  • p.Leu268Phe Single submitter STING-associated vasculopathy with onset in infancy ⚠
  • p.Leu311Phe Single submitter STING-associated vasculopathy with onset in infancy ⚠
  • p.Leu54Pro Single submitter STING-associated vasculopathy with onset in infancy
  • p.Met1Thr Single submitter STING-associated vasculopathy with onset in infancy
  • p.Met368Ile Single submitter autoinflammatory syndrome ⚠
  • p.Phe221Leu Single submitter STING-associated vasculopathy with onset in infancy ⚠
  • p.Pro203Ser Single submitter ⚠
  • p.Pro203Thr Single submitter Inborn genetic diseases ⚠
  • p.Pro209Leu Single submitter ⚠
  • p.Pro226Ser Single submitter Inborn genetic diseases ⚠
  • p.Pro264Ser Single submitter STING-associated vasculopathy with onset in infancy
  • p.Pro2Leu Single submitter STING-associated vasculopathy with onset in infancy ⚠
  • p.Pro2Ser Single submitter STING-associated vasculopathy with onset in infancy ⚠
  • p.Pro303Leu Single submitter STING-associated vasculopathy with onset in infancy ⚠
  • p.Pro317Leu Single submitter STING-associated vasculopathy with onset in infancy ⚠
  • p.Pro352Ser Single submitter STING-associated vasculopathy with onset in infancy ⚠
  • p.Pro371Thr Single submitter ⚠
  • p.Ser213Arg Single submitter STING-associated vasculopathy with onset in infancy ⚠
  • p.Ser27Thr Single submitter STING-associated vasculopathy with onset in infancy ⚠
  • p.Ser53= Single submitter autoinflammatory syndrome
  • p.Ser65Arg Single submitter Inborn genetic diseases ⚠
  • p.Thr229Ile Single submitter ⚠
  • p.Thr256Ile Single submitter STING-associated vasculopathy with onset in infancy ⚠
  • p.Thr32Ile Single submitter STING-associated vasculopathy with onset in infancy ⚠
  • p.Thr342fs Single submitter STING-associated vasculopathy with onset in infancy
  • p.Thr354Asn Single submitter STING-associated vasculopathy with onset in infancy ⚠
  • p.Thr354Ile Single submitter STING-associated vasculopathy with onset in infancy ⚠
  • p.Thr376Lys Single submitter Inborn genetic diseases ⚠
  • p.Thr43Pro Single submitter Inborn genetic diseases ⚠
  • p.Trp34Cys Single submitter STING-associated vasculopathy with onset in infancy ⚠
  • p.Tyr164Asp Single submitter Inborn genetic diseases ⚠
  • p.Tyr182Ser Single submitter STING-associated vasculopathy with onset in infancy ⚠
  • p.Tyr274Ter Single submitter STING-associated vasculopathy with onset in infancy
  • p.Val147Met Single submitter STING-associated vasculopathy with onset in infancy ⚠
  • p.Val208Met Single submitter STING-associated vasculopathy with onset in infancy ⚠
  • p.Val24Phe Single submitter STING-associated vasculopathy with onset in infancy ⚠
  • p.Val31Ala Single submitter STING-associated vasculopathy with onset in infancy ⚠
  • p.Val31Leu Single submitter STING-associated vasculopathy with onset in infancy ⚠
  • p.Val341Leu Single submitter STING-associated vasculopathy with onset in infancy ⚠
  • p.Val343fs Single submitter STING-associated vasculopathy with onset in infancy
  • p.Val343Met Single submitter STING-associated vasculopathy with onset in infancy ⚠
  • p.Val48Leu Single submitter STING-associated vasculopathy with onset in infancy ⚠
  • p.Val63Ala Single submitter STING-associated vasculopathy with onset in infancy ⚠