Sugi Variant

Sugi Variant/TREX1

TREX1 — 593 ClinVar variants

All ClinVar germline TREX1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 303 flagged for review →

31 Pathogenic · 17 Pathogenic/Likely pathogenic · 27 Likely pathogenic · 31 Conflicting · 3 Benign · 5 Benign/Likely benign · 135 Likely benign · 344 Uncertain significance

Full TREX1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 303

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.

Predictors agree, ClinVar conflicts 12

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

Predictors lean, ClinVar uncertain 227

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 227

Predictors split 63

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

All TREX1 variants

Pathogenic 31

  • p.Ser82fs Multiple submitters Aicardi-Goutieres syndrome 1
  • p.Asp18Asn Multiple submitters TREX1-related disorder
  • p.Val71fs Multiple submitters chilblain lupus 1
  • p.Gln28fs Single submitter Aicardi-Goutieres syndrome 1
  • p.Ala123_His124insAla Single submitter chilblain lupus 1
  • p.Ala123fs Single submitter Aicardi-Goutieres syndrome 1
  • p.Ala289fs Single submitter systemic lupus erythematosus
  • p.Arg174_Lys175delinsSerTer Single submitter Aicardi-Goutieres syndrome 1
  • p.Asp200Asn Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
  • p.Gln117Ter Single submitter Aicardi-Goutieres syndrome 1
  • p.Gln189Ter Single submitter Aicardi-Goutieres syndrome 1
  • p.Gln51fs Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
  • p.Glu285fs Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
  • p.Gly2fs Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
  • p.His124fs Single submitter Aicardi-Goutieres syndrome 1
  • p.Leu134fs Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
  • p.Leu44fs Single submitter Aicardi-Goutieres syndrome 1
  • p.Leu69fs Single submitter Aicardi-Goutieres syndrome 1
  • p.Leu87fs Single submitter chilblain lupus 1
  • p.Met19fs Single submitter Aicardi-Goutieres syndrome 1
  • p.Phe100fs Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
  • p.Pro25fs Single submitter Aicardi-Goutieres syndrome 1
  • p.Pro48fs Single submitter Aicardi-Goutieres syndrome 1
  • p.Pro79fs Single submitter Aicardi-Goutieres syndrome 1
  • p.Pro7fs Single submitter Aicardi-Goutieres syndrome 1
  • p.Ser78fs Single submitter Aicardi-Goutieres syndrome 1
  • p.Trp119Ter Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
  • p.Trp210Ter Single submitter Aicardi-Goutieres syndrome 1
  • p.Val201Asp Single submitter Aicardi-Goutieres syndrome 1
  • p.Ser194fs No assertion criteria Aicardi-Goutieres syndrome 1
  • p.Thr236fs No assertion criteria retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations

Pathogenic/Likely pathogenic 17

  • p.Gln51fs Multiple submitters retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
  • p.Ala139fs Multiple submitters TREX1-related disorder
  • p.Ala72fs Multiple submitters retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
  • p.Arg114His Multiple submitters Fetal anomalies with a likely genetic cause ⚠
  • p.Arg164Ter Multiple submitters TREX1-related disorder
  • p.Cys42Ter Multiple submitters Aicardi-Goutieres syndrome 1
  • p.Cys99fs Multiple submitters TREX1-related disorder
  • p.Cys99Ter Multiple submitters Aicardi-Goutieres syndrome 1
  • p.Gln135Ter Multiple submitters TREX1-related disorder
  • p.Glu20fs Multiple submitters retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
  • p.Ile207fs Multiple submitters retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
  • p.Pro212fs Multiple submitters TREX1-related disorder
  • p.Pro290_Ala295del Multiple submitters retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
  • p.Ser167fs Multiple submitters chilblain lupus 1
  • p.Ser82fs Multiple submitters Aicardi-Goutieres syndrome 1
  • p.Thr49fs Multiple submitters TREX1-related disorder
  • p.Ser46fs Single submitter Aicardi-Goutieres syndrome 1

Likely pathogenic 27

  • p.Asp200dup Multiple submitters retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
  • p.Asp200His Multiple submitters TREX1-related disorder
  • p.Glu137fs Multiple submitters Aicardi-Goutieres syndrome 1
  • p.Gly126fs Multiple submitters retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
  • p.Ile182fs Multiple submitters Aicardi-Goutieres syndrome 1
  • c.1033_1050del Single submitter Aicardi-Goutieres syndrome 1
  • p.Arg114Leu Single submitter Aicardi-Goutieres syndrome 1
  • p.Arg284fs Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
  • p.Asp130His Single submitter
  • p.Asp154Ala Single submitter Aicardi-Goutieres syndrome 1
  • p.Asp272fs Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
  • p.Asp278fs Single submitter thrombotic microangiopathy
  • p.Gln28fs Single submitter neurodevelopmental disorder
  • p.Glu266Ter Single submitter Aicardi-Goutieres syndrome 1
  • p.Glu314fs Single submitter inherited retinal dystrophy
  • p.Gly269fs Single submitter
  • p.His124Asp Single submitter
  • p.Leu133fs Single submitter Aicardi-Goutieres syndrome 1
  • p.Leu287fs Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
  • p.Lys277Ter Single submitter Aicardi-Goutieres syndrome 1
  • p.Met1Ile Single submitter TREX1-related disorder
  • p.Thr250fs Single submitter
  • p.Thr56fs Single submitter TREX1-related disorder
  • p.Thr89fs Single submitter TREX1-related disorder
  • p.Asn259fs No assertion criteria TREX1-related disorder
  • p.Pro192fs No assertion criteria chilblain lupus 1
  • p.Ser27_Thr32del No assertion criteria Aicardi-Goutieres syndrome 1

Conflicting classifications of pathogenicity 31

  • c.-26-1G>A Single submitter TREX1-related disorder
  • c.-26-96G>A Single submitter intellectual disability
  • p.Ala158Val Single submitter Aicardi-Goutieres syndrome 1 ⚠
  • p.Ala223Thr Single submitter TREX1-related disorder ⚠
  • p.Ala247Pro Single submitter Aicardi-Goutieres syndrome 1 ⚠
  • p.Arg114Cys Single submitter systemic lupus erythematosus ⚠
  • p.Arg217Gln Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations ⚠
  • p.Arg217Trp Single submitter Aicardi-Goutieres syndrome 1 ⚠
  • p.Arg240Ser Single submitter Aicardi-Goutieres syndrome 1 ⚠
  • p.Arg268fs Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
  • p.Arg97His Single submitter TREX1-related disorder
  • p.Gln213Arg Single submitter Inborn genetic diseases ⚠
  • p.Glu266Gly Single submitter systemic lupus erythematosus ⚠
  • p.Gly227Ser Single submitter Aicardi-Goutieres syndrome 1 ⚠
  • p.His171fs Single submitter Aicardi-Goutieres syndrome 1
  • p.His40= Single submitter Aicardi-Goutieres syndrome 1
  • p.Leu104= Single submitter Aicardi-Goutieres syndrome 1
  • p.Leu282= Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
  • p.Met1Val Single submitter TREX1-related disorder
  • p.Pro10fs Single submitter chilblain lupus 1
  • p.Pro116Ala Single submitter Aicardi-Goutieres syndrome 1 ⚠
  • p.Pro132Ala Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations ⚠
  • p.Pro61= Single submitter Aicardi-Goutieres syndrome 1
  • p.Pro61Gln Single submitter TREX1-related type 1 interferonopathy ⚠
  • p.Pro73= Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
  • p.Pro73Leu Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations ⚠
  • p.Ser263Asn Single submitter Inborn genetic diseases ⚠
  • p.Ser3= Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
  • p.Thr303Pro Single submitter chilblain lupus 1 ⚠
  • p.Val153= Single submitter Aicardi-Goutieres syndrome 1
  • p.Val235fs Single submitter Aicardi-Goutieres syndrome 1

Benign 3

Benign/Likely benign 5

  • p.Ala281= Multiple submitters Aicardi-Goutieres syndrome 1
  • p.Asp154= Multiple submitters Aicardi-Goutieres syndrome 1
  • p.Leu293= Multiple submitters Aicardi-Goutieres syndrome 1
  • p.Lys66= Multiple submitters retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
  • p.Pro168= Multiple submitters Aicardi-Goutieres syndrome 1

Likely benign 135

  • c.-26-95G>T Multiple submitters
  • p.Ala139= Multiple submitters retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
  • p.Ala158= Multiple submitters Aicardi-Goutieres syndrome 1
  • p.Ala295= Multiple submitters Aicardi-Goutieres syndrome 1
  • p.Ala94= Multiple submitters chilblain lupus 1
  • p.Arg113= Multiple submitters chilblain lupus 1
  • p.Arg185= Multiple submitters Aicardi-Goutieres syndrome 1
  • p.Arg211= Multiple submitters Aicardi-Goutieres syndrome 1
  • p.Asp101= Multiple submitters chilblain lupus 1
  • p.Gln209= Multiple submitters Aicardi-Goutieres syndrome 1
  • p.His171= Multiple submitters chilblain lupus 1
  • p.Leu112= Multiple submitters Aicardi-Goutieres syndrome 1
  • p.Leu143= Multiple submitters chilblain lupus 1
  • p.Leu159= Multiple submitters Aicardi-Goutieres syndrome 1
  • p.Leu162= Multiple submitters Aicardi-Goutieres syndrome 1
  • p.Phe226= Multiple submitters Aicardi-Goutieres syndrome 1
  • p.Pro48= Multiple submitters retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
  • p.Pro7= Multiple submitters Aicardi-Goutieres syndrome 1
  • p.Pro8= Multiple submitters chilblain lupus 1
  • p.Ser167= Multiple submitters retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
  • p.Ser194= Multiple submitters Aicardi-Goutieres syndrome 1
  • p.Ser261= Multiple submitters Aicardi-Goutieres syndrome 1
  • p.Ser283= Multiple submitters Aicardi-Goutieres syndrome 1
  • p.Thr298= Multiple submitters Aicardi-Goutieres syndrome 1
  • p.Thr311= Multiple submitters
  • p.Thr32= Multiple submitters Aicardi-Goutieres syndrome 1
  • p.Thr56= Multiple submitters Aicardi-Goutieres syndrome 1
  • p.Tyr129= Multiple submitters chilblain lupus 1
  • p.Tyr183= Multiple submitters Aicardi-Goutieres syndrome 1
  • p.Val276= Multiple submitters Aicardi-Goutieres syndrome 1
  • p.Pro7= Single submitter Aicardi-Goutieres syndrome 1
  • p.Thr157= Single submitter Aicardi-Goutieres syndrome 1
  • c.-10G>A Single submitter
  • c.-26-102A>T Single submitter
  • c.-26-109A>G Single submitter
  • c.-26-135G>A Single submitter
  • c.-26-157C>T Single submitter
  • c.-26-17C>T Single submitter
  • c.-26-49C>T Single submitter
  • c.-26-53C>A Single submitter
  • c.-60C>T Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
  • p.Ala123= Single submitter Aicardi-Goutieres syndrome 1
  • p.Ala136= Single submitter Aicardi-Goutieres syndrome 1
  • p.Ala150= Single submitter Aicardi-Goutieres syndrome 1
  • p.Ala158_Leu159= Single submitter Aicardi-Goutieres syndrome 1
  • p.Ala165= Single submitter Aicardi-Goutieres syndrome 1
  • p.Ala197= Single submitter Aicardi-Goutieres syndrome 1
  • p.Ala203= Single submitter
  • p.Ala21= Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
  • p.Ala214= Single submitter Aicardi-Goutieres syndrome 1
  • p.Ala221= Single submitter Aicardi-Goutieres syndrome 1
  • p.Ala310= Single submitter Aicardi-Goutieres syndrome 1
  • p.Ala5= Single submitter Aicardi-Goutieres syndrome 1
  • p.Ala72= Single submitter Aicardi-Goutieres syndrome 1
  • p.Ala90= Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
  • p.Arg174= Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
  • p.Arg217= Single submitter Aicardi-Goutieres syndrome 1
  • p.Arg224= Single submitter Aicardi-Goutieres syndrome 1
  • p.Arg230= Single submitter chilblain lupus 1
  • p.Arg240= Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
  • p.Arg284= Single submitter chilblain lupus 1
  • p.Asn106= Single submitter Aicardi-Goutieres syndrome 1
  • p.Asn125= Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
  • p.Asp102= Single submitter Aicardi-Goutieres syndrome 1
  • p.Asp130= Single submitter
  • p.Asp18= Single submitter Aicardi-Goutieres syndrome 1
  • p.Asp193= Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
  • p.Asp200= Single submitter Aicardi-Goutieres syndrome 1
  • p.Asp278= Single submitter chilblain lupus 1
  • p.Cys120= Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
  • p.Gln135= Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
  • p.Gln98= Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
  • p.Glu198= Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
  • p.Glu20= Single submitter Aicardi-Goutieres syndrome 1
  • p.Glu266= Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
  • p.Glu83= Single submitter Aicardi-Goutieres syndrome 1
  • p.Gly126= Single submitter Aicardi-Goutieres syndrome 1
  • p.Gly180= Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
  • p.Gly2= Single submitter Aicardi-Goutieres syndrome 1
  • p.Gly23= Single submitter Aicardi-Goutieres syndrome 1
  • p.Gly265= Single submitter chilblain lupus 1
  • p.Gly306= Single submitter Aicardi-Goutieres syndrome 1
  • p.Gly313= Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
  • p.Gly86= Single submitter Aicardi-Goutieres syndrome 1
  • p.Gly9= Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
  • p.His222= Single submitter Aicardi-Goutieres syndrome 1
  • p.Ile229= Single submitter
  • p.Leu107= Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
  • p.Leu108= Single submitter Aicardi-Goutieres syndrome 1
  • p.Leu179= Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
  • p.Leu186= Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
  • p.Leu205= Single submitter Aicardi-Goutieres syndrome 1
  • p.Leu215= Single submitter Aicardi-Goutieres syndrome 1
  • p.Leu24= Single submitter Aicardi-Goutieres syndrome 1
  • p.Leu254= Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
  • p.Leu291= Single submitter Aicardi-Goutieres syndrome 1
  • p.Leu294= Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
  • p.Leu297= Single submitter Aicardi-Goutieres syndrome 1
  • p.Leu304= Single submitter Aicardi-Goutieres syndrome 1
  • p.Leu307= Single submitter Aicardi-Goutieres syndrome 1
  • p.Leu34= Single submitter Aicardi-Goutieres syndrome 1
  • p.Leu37= Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
  • p.Leu44= Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
  • p.Leu6= Single submitter Aicardi-Goutieres syndrome 1
  • p.Leu69= Single submitter Aicardi-Goutieres syndrome 1
  • p.Lys242= Single submitter Aicardi-Goutieres syndrome 1
  • p.Lys271= Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
  • p.Phe131= Single submitter chilblain lupus 1
  • p.Phe17= Single submitter Aicardi-Goutieres syndrome 1
  • p.Pro10= Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
  • p.Pro173= Single submitter Aicardi-Goutieres syndrome 1
  • p.Pro192= Single submitter chilblain lupus 1
  • p.Pro245= Single submitter Aicardi-Goutieres syndrome 1
  • p.Pro25= Single submitter Aicardi-Goutieres syndrome 1
  • p.Pro262= Single submitter Aicardi-Goutieres syndrome 1
  • p.Pro279= Single submitter chilblain lupus 1
  • p.Pro55= Single submitter Aicardi-Goutieres syndrome 1
  • p.Pro59= Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
  • p.Ser155= Single submitter Aicardi-Goutieres syndrome 1
  • p.Ser181= Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
  • p.Ser27= Single submitter chilblain lupus 1
  • p.Ser46= Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
  • p.Thr157= Single submitter chilblain lupus 1
  • p.Thr196= Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
  • p.Thr251= Single submitter Aicardi-Goutieres syndrome 1
  • p.Thr260= Single submitter
  • p.Thr303= Single submitter Aicardi-Goutieres syndrome 1
  • p.Thr49Ala Single submitter
  • p.Tyr305= Single submitter Aicardi-Goutieres syndrome 1
  • p.Val219= Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
  • p.Val235= Single submitter Aicardi-Goutieres syndrome 1
  • p.Val248= Single submitter chilblain lupus 1
  • p.Val39Ile Single submitter Inborn genetic diseases
  • p.Val64= Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
  • p.Val71= Single submitter Aicardi-Goutieres syndrome 1

Uncertain significance 344

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

  • p.Ala150Thr Multiple submitters Aicardi-Goutieres syndrome 1 ⚠
  • p.Ala197Val Multiple submitters Aicardi-Goutieres syndrome 1 ⚠
  • p.Ala43Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala76Ser Multiple submitters retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations ⚠
  • p.Arg113Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Arg128Cys Multiple submitters Aicardi-Goutieres syndrome 1 ⚠
  • p.Arg128His Multiple submitters retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations ⚠
  • p.Arg164Gln Multiple submitters Aicardi-Goutieres syndrome 1 ⚠
  • p.Arg164Leu Multiple submitters Aicardi-Goutieres syndrome 1 ⚠
  • p.Arg164Pro Multiple submitters retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations ⚠
  • p.Arg185Cys Multiple submitters Aicardi-Goutieres syndrome 1 ⚠
  • p.Arg185His Multiple submitters Aicardi-Goutieres syndrome 1 ⚠
  • p.Arg211Ser Multiple submitters Aicardi-Goutieres syndrome 1
  • p.Arg230Ser Multiple submitters Aicardi-Goutieres syndrome 1 ⚠
  • p.Arg62Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg62His Multiple submitters retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations ⚠
  • p.Arg97Cys Multiple submitters Aicardi-Goutieres syndrome 1 ⚠
  • p.Asn103Ile Multiple submitters Aicardi-Goutieres syndrome 1 ⚠
  • p.Asn125Ser Multiple submitters chilblain lupus 1 ⚠
  • p.Asp130Asn Multiple submitters retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations ⚠
  • p.Asp278His Multiple submitters chilblain lupus 1 ⚠
  • p.Cys208Ser Multiple submitters TREX1-related disorder ⚠
  • p.Gln135Glu Multiple submitters Aicardi-Goutieres syndrome 1 ⚠
  • p.Gln209His Multiple submitters Aicardi-Goutieres syndrome 1
  • p.Gln28His Multiple submitters Aicardi-Goutieres syndrome 1 ⚠
  • p.Glu137Gln Multiple submitters ⚠
  • p.Glu198Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Glu83Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Gly149Val Multiple submitters ⚠
  • p.Gly188Arg Multiple submitters Aicardi-Goutieres syndrome 1 ⚠
  • p.Gly2Val Multiple submitters Inborn genetic diseases ⚠
  • p.His253Tyr Multiple submitters Inborn genetic diseases ⚠
  • p.Ile156_Thr157insIle Multiple submitters retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
  • p.Ile84Ser Multiple submitters Aicardi-Goutieres syndrome 1 ⚠
  • p.Ile84Val Multiple submitters Aicardi-Goutieres syndrome 1
  • p.Leu134Phe Multiple submitters Inborn genetic diseases ⚠
  • p.Leu254Met Multiple submitters Aicardi-Goutieres syndrome 1 ⚠
  • p.Leu273Val Multiple submitters Aicardi-Goutieres syndrome 1 ⚠
  • p.Leu69Pro Multiple submitters Aicardi-Goutieres syndrome 1 ⚠
  • p.Lys66Arg Multiple submitters chilblain lupus 1 ⚠
  • p.Lys75Arg Multiple submitters Aicardi-Goutieres syndrome 1 ⚠
  • p.Met140Val Multiple submitters Inborn genetic diseases ⚠
  • p.Met232Arg Multiple submitters Aicardi-Goutieres syndrome 1 ⚠
  • p.Met232Val Multiple submitters Aicardi-Goutieres syndrome 1 ⚠
  • p.Phe100Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Phe131Leu Multiple submitters retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations ⚠
  • p.Phe131Val Multiple submitters Aicardi-Goutieres syndrome 1 ⚠
  • p.Phe17Ser Multiple submitters Aicardi-Goutieres syndrome 1 ⚠
  • p.Pro116Leu Multiple submitters retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations ⚠
  • p.Pro132Thr Multiple submitters Aicardi-Goutieres syndrome 1 ⚠
  • p.Pro243Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Pro262Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Pro290Leu Multiple submitters Aicardi-Goutieres syndrome 1 ⚠
  • p.Pro312Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Pro55Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro58Ser Multiple submitters Aicardi-Goutieres syndrome 1 ⚠
  • p.Pro60Ser Multiple submitters Aicardi-Goutieres syndrome 1 ⚠
  • p.Pro8Ala Multiple submitters Aicardi-Goutieres syndrome 1 ⚠
  • p.Pro8Leu Multiple submitters Aicardi-Goutieres syndrome 1 ⚠
  • p.Ser155Gly Multiple submitters Inborn genetic diseases
  • p.Ser169Pro Multiple submitters Inborn genetic diseases ⚠
  • p.Ser176Gly Multiple submitters chilblain lupus 1 ⚠
  • p.Ser194Leu Multiple submitters Aicardi-Goutieres syndrome 1 ⚠
  • p.Ser206Asn Multiple submitters Aicardi-Goutieres syndrome 1 ⚠
  • p.Ser206Gly Multiple submitters Aicardi-Goutieres syndrome 1 ⚠
  • p.Ser27Phe Multiple submitters TREX1-related disorder
  • p.Ser308Cys Multiple submitters systemic lupus erythematosus ⚠
  • p.Ser3Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Thr196Met Multiple submitters Aicardi-Goutieres syndrome 1 ⚠
  • p.Thr250Ile Multiple submitters retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations ⚠
  • p.Thr32Met Multiple submitters retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations ⚠
  • p.Thr89Ile Multiple submitters Inborn genetic diseases
  • p.Tyr305Cys Multiple submitters TREX1-related disorder ⚠
  • p.Tyr305fs Multiple submitters Aicardi-Goutieres syndrome 1
  • p.Val31Ile Multiple submitters Aicardi-Goutieres syndrome 1 ⚠
  • p.Val63Met Multiple submitters Aicardi-Goutieres syndrome 1 ⚠
  • c.-100C>T Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
  • c.-11C>G Single submitter
  • c.-11C>T Single submitter TREX1-related disorder
  • c.-26-110G>A Single submitter
  • c.-26-52C>T Single submitter Aicardi-Goutieres syndrome 1
  • c.-26-6C>T Single submitter
  • c.-27+4_-27+7dup Single submitter TREX1-related type 1 interferonopathy
  • c.-27+4A>G Single submitter Aicardi-Goutieres syndrome 1
  • c.*20C>T Single submitter
  • p.Ala105Val Single submitter Aicardi-Goutieres syndrome 1 ⚠
  • p.Ala110Gly Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations ⚠
  • p.Ala139Pro Single submitter chilblain lupus 1
  • p.Ala165Glu Single submitter Aicardi-Goutieres syndrome 1 ⚠
  • p.Ala165Pro Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations ⚠
  • p.Ala197Thr Single submitter Aicardi-Goutieres syndrome 1 ⚠
  • p.Ala203Thr Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations ⚠
  • p.Ala203Val Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations ⚠
  • p.Ala214Thr Single submitter Aicardi-Goutieres syndrome 1 ⚠
  • p.Ala21Thr Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
  • p.Ala221Val Single submitter Aicardi-Goutieres syndrome 1 ⚠
  • p.Ala247Thr Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations ⚠
  • p.Ala247Val Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations ⚠
  • p.Ala252Val Single submitter chilblain lupus 1 ⚠
  • p.Ala300Val Single submitter Aicardi-Goutieres syndrome 1 ⚠
  • p.Ala302fs Single submitter Aicardi-Goutieres syndrome 1
  • p.Ala38Ser Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations ⚠
  • p.Ala38Val Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations ⚠
  • p.Ala43Ser Single submitter Aicardi-Goutieres syndrome 1 ⚠
  • p.Ala5Asp Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations ⚠
  • p.Ala81Val Single submitter Aicardi-Goutieres syndrome 1 ⚠
  • p.Ala90Thr Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations ⚠
  • p.Ala93Pro Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
  • p.Ala93Thr Single submitter Aicardi-Goutieres syndrome 1 ⚠
  • p.Ala94Val Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations ⚠
  • p.Arg113Gln Single submitter Aicardi-Goutieres syndrome 1 ⚠
  • p.Arg113Gly Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations ⚠
  • p.Arg113Leu Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations ⚠
  • p.Arg128_Asp130del Single submitter Aicardi-Goutieres syndrome 1
  • p.Arg128Ser Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
  • p.Arg174Gly Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations ⚠
  • p.Arg174Lys Single submitter Aicardi-Goutieres syndrome 1 ⚠
  • p.Arg185Pro Single submitter Aicardi-Goutieres syndrome 1 ⚠
  • p.Arg211Ile Single submitter
  • p.Arg211Lys Single submitter Aicardi-Goutieres syndrome 1 ⚠
  • p.Arg240Lys Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations ⚠
  • p.Arg244fs Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
  • p.Arg258Gly Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations ⚠
  • p.Arg268Gly Single submitter chilblain lupus 1 ⚠
  • p.Arg268Lys Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations ⚠
  • p.Arg268Thr Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations ⚠
  • p.Arg41Lys Single submitter chilblain lupus 1 ⚠
  • p.Arg62Gly Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations ⚠
  • p.Arg62Leu Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations ⚠
  • p.Arg97Ser Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations ⚠
  • p.Asn106Ser Single submitter Aicardi-Goutieres syndrome 1 ⚠
  • p.Asp101Ala Single submitter
  • p.Asp101Gly Single submitter Aicardi-Goutieres syndrome 1 ⚠
  • p.Asp127Val Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
  • p.Asp193Gly Single submitter Aicardi-Goutieres syndrome 1 ⚠
  • p.Asp272Ala Single submitter Aicardi-Goutieres syndrome 1 ⚠
  • p.Asp272Val Single submitter Aicardi-Goutieres syndrome 1 ⚠
  • p.Asp278Val Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations ⚠
  • p.Asp65Gly Single submitter Aicardi-Goutieres syndrome 1 ⚠
  • p.Cys120Ser Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations ⚠
  • p.Cys208Tyr Single submitter Aicardi-Goutieres syndrome 1 ⚠
  • p.Cys42Trp Single submitter Aicardi-Goutieres syndrome 1 ⚠
  • p.Cys42Tyr Single submitter ⚠
  • p.Cys70Arg Single submitter chilblain lupus 1 ⚠
  • p.Cys70Ser Single submitter Aicardi-Goutieres syndrome 1 ⚠
  • p.Cys77Arg Single submitter Aicardi-Goutieres syndrome 1 ⚠
  • p.Cys99Arg Single submitter Aicardi-Goutieres syndrome 1 ⚠
  • p.Cys99Tyr Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations ⚠
  • p.Gln115His Single submitter Aicardi-Goutieres syndrome 1 ⚠
  • p.Gln115Pro Single submitter ⚠
  • p.Gln12Arg Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations ⚠
  • p.Gln189Arg Single submitter chilblain lupus 1 ⚠
  • p.Gln28Arg Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations ⚠
  • p.Gln4Lys Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations ⚠
  • p.Gln51Arg Single submitter Aicardi-Goutieres syndrome 1 ⚠
  • p.Gln51Pro Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations ⚠
  • p.Gln98His Single submitter Aicardi-Goutieres syndrome 1 ⚠
  • p.Glu137Ala Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations ⚠
  • p.Glu170Gly Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations ⚠
  • p.Glu170Lys Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations ⚠
  • p.Glu20Lys Single submitter Aicardi-Goutieres syndrome 1 ⚠
  • p.Glu285Val Single submitter Aicardi-Goutieres syndrome 1 ⚠
  • p.Glu33Val Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations ⚠
  • p.Glu45Lys Single submitter ⚠
  • p.Glu83Gln Single submitter Aicardi-Goutieres syndrome 1 ⚠
  • p.Gly142Ala Single submitter Aicardi-Goutieres syndrome 1 ⚠
  • p.Gly149Ala Single submitter Aicardi-Goutieres syndrome 1 ⚠
  • p.Gly149Asp Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations ⚠
  • p.Gly172Ser Single submitter Aicardi-Goutieres syndrome 1 ⚠
  • p.Gly180Arg Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations ⚠
  • p.Gly234Trp Single submitter ⚠
  • p.Gly269Asp Single submitter Aicardi-Goutieres syndrome 1 ⚠
  • p.Gly269Ser Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations ⚠
  • p.Gly269Val Single submitter Aicardi-Goutieres syndrome 1 ⚠
  • p.Gly286Arg Single submitter ⚠
  • p.Gly286Glu Single submitter Aicardi-Goutieres syndrome 1 ⚠
  • p.Gly292Arg Single submitter chilblain lupus 1 ⚠
  • p.Gly2Asp Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations ⚠
  • p.Gly306Ala Single submitter Aicardi-Goutieres syndrome 1 ⚠
  • p.Gly306Arg Single submitter Aicardi-Goutieres syndrome 1 ⚠
  • p.Gly306fs Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
  • p.Gly306Ter Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
  • p.Gly74Ala Single submitter chilblain lupus 1 ⚠
  • p.Gly74Arg Single submitter ⚠
  • p.Gly96Ala Single submitter Aicardi-Goutieres syndrome 1 ⚠
  • p.Gly96Arg Single submitter Aicardi-Goutieres syndrome 1 ⚠
  • p.Gly9Glu Single submitter Aicardi-Goutieres syndrome 1 ⚠
  • p.His124Arg Single submitter ⚠
  • p.His195Arg Single submitter chilblain lupus 1 ⚠
  • p.His222Asn Single submitter Aicardi-Goutieres syndrome 1 ⚠
  • p.His222Gln Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations ⚠
  • p.His253_Leu254insHis Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
  • p.His253Arg Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations ⚠
  • p.His253Asp Single submitter Aicardi-Goutieres syndrome 1 ⚠
  • p.His40Gln Single submitter chilblain lupus 1 ⚠
  • p.His95Arg Single submitter Aicardi-Goutieres syndrome 1 ⚠
  • p.His95Pro Single submitter Aicardi-Goutieres syndrome 1
  • p.Ile15_Phe16insIle Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
  • p.Ile156Met Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations ⚠
  • p.Ile156Val Single submitter Aicardi-Goutieres syndrome 1 ⚠
  • p.Ile15Met Single submitter ⚠
  • p.Ile207Met Single submitter Aicardi-Goutieres syndrome 1
  • p.Ile229_Arg230insIle Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
  • p.Ile84Thr Single submitter Aicardi-Goutieres syndrome 1 ⚠
  • p.Leu104Val Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations ⚠
  • p.Leu107Met Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations ⚠
  • p.Leu107Val Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations ⚠
  • p.Leu134Ile Single submitter Aicardi-Goutieres syndrome 1 ⚠
  • p.Leu138Val Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations ⚠
  • p.Leu143Val Single submitter Aicardi-Goutieres syndrome 1 ⚠
  • p.Leu147Pro Single submitter Aicardi-Goutieres syndrome 1 ⚠
  • p.Leu14Phe Single submitter Aicardi-Goutieres syndrome 1 ⚠
  • p.Leu179Pro Single submitter Aicardi-Goutieres syndrome 1 ⚠
  • p.Leu202Arg Single submitter Aicardi-Goutieres syndrome 1 ⚠
  • p.Leu204Pro Single submitter chilblain lupus 1 ⚠
  • p.Leu204Val Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations ⚠
  • p.Leu216Pro Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations ⚠
  • p.Leu273Phe Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations ⚠
  • p.Leu287_Ala289delinsGlyCysSerArgGlnAlaPheArgHisHisGlnAlaHisValTrpGlyHisSerLeuCysTer Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
  • p.Leu288Pro Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations ⚠
  • p.Leu293Val Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations ⚠
  • p.Leu294Gln Single submitter chilblain lupus 1 ⚠
  • p.Leu299fs Single submitter chilblain lupus 1
  • p.Leu299Val Single submitter Aicardi-Goutieres syndrome 1 ⚠
  • p.Leu304fs Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
  • p.Leu304Pro Single submitter
  • p.Leu309Val Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations ⚠
  • p.Leu37Pro Single submitter chilblain lupus 1 ⚠
  • p.Leu44Gln Single submitter Inborn genetic diseases ⚠
  • p.Leu87Pro Single submitter Aicardi-Goutieres syndrome 1 ⚠
  • p.Leu87Val Single submitter Aicardi-Goutieres syndrome 1 ⚠
  • p.Lys160Gln Single submitter Aicardi-Goutieres syndrome 1 ⚠
  • p.Lys175_Ser176insLys Single submitter Aicardi-Goutieres syndrome 1
  • p.Lys277Arg Single submitter Aicardi-Goutieres syndrome 1 ⚠
  • p.Lys30Glu Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations ⚠
  • p.Met11Arg Single submitter
  • p.Met11Thr Single submitter Aicardi-Goutieres syndrome 1 ⚠
  • p.Met140Thr Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations ⚠
  • p.Met19Ile Single submitter chilblain lupus 1 ⚠
  • p.Met19Leu Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations ⚠
  • p.Met19Thr Single submitter Aicardi-Goutieres syndrome 1 ⚠
  • p.Met19Val Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations ⚠
  • p.Met1fs Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
  • p.Met1Thr Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
  • p.Met232fs Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
  • p.Phe100Leu Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations ⚠
  • p.Phe131Ile Single submitter Aicardi-Goutieres syndrome 1 ⚠
  • p.Phe151Leu Single submitter Aicardi-Goutieres syndrome 1 ⚠
  • p.Phe226Leu Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations ⚠
  • p.Pro10His Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations ⚠
  • p.Pro118= Single submitter
  • p.Pro132Ser Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations ⚠
  • p.Pro168Leu Single submitter Aicardi-Goutieres syndrome 1 ⚠
  • p.Pro168Ser Single submitter Aicardi-Goutieres syndrome 1 ⚠
  • p.Pro192Ser Single submitter Aicardi-Goutieres syndrome 1 ⚠
  • p.Pro212Leu Single submitter Aicardi-Goutieres syndrome 1 ⚠
  • p.Pro245Arg Single submitter Aicardi-Goutieres syndrome 1 ⚠
  • p.Pro245Ser Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations ⚠
  • p.Pro25Arg Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
  • p.Pro25His Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations ⚠
  • p.Pro25Leu Single submitter Aicardi-Goutieres syndrome 1
  • p.Pro25Thr Single submitter Aicardi-Goutieres syndrome 1
  • p.Pro262fs Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
  • p.Pro279Ser Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations ⚠
  • p.Pro279Thr Single submitter chilblain lupus 1 ⚠
  • p.Pro29Ser Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations ⚠
  • p.Pro312Ala Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations ⚠
  • p.Pro47His Single submitter Aicardi-Goutieres syndrome 1 ⚠
  • p.Pro47Ser Single submitter Aicardi-Goutieres syndrome 1 ⚠
  • p.Pro47Thr Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations ⚠
  • p.Pro48Arg Single submitter Aicardi-Goutieres syndrome 1 ⚠
  • p.Pro48del Single submitter Aicardi-Goutieres syndrome 1
  • p.Pro48Leu Single submitter Aicardi-Goutieres syndrome 1 ⚠
  • p.Pro48Ser Single submitter Aicardi-Goutieres syndrome 1 ⚠
  • p.Pro54Thr Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations ⚠
  • p.Pro55Ser Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations ⚠
  • p.Pro58Leu Single submitter Aicardi-Goutieres syndrome 1 ⚠
  • p.Pro59Ser Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations ⚠
  • p.Pro60Leu Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations ⚠
  • p.Pro61Arg Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations ⚠
  • p.Pro61Leu Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations ⚠
  • p.Pro79Leu Single submitter ⚠
  • p.Pro7Arg Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations ⚠
  • p.Pro7Ser Single submitter ⚠
  • p.Ser145Asn Single submitter Aicardi-Goutieres syndrome 1 ⚠
  • p.Ser145Cys Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations ⚠
  • p.Ser145Gly Single submitter chilblain lupus 1 ⚠
  • p.Ser166Thr Single submitter Aicardi-Goutieres syndrome 1 ⚠
  • p.Ser167Asn Single submitter Aicardi-Goutieres syndrome 1 ⚠
  • p.Ser176Ile Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations ⚠
  • p.Ser178_Tyr183del Single submitter Aicardi-Goutieres syndrome 1
  • p.Ser206Thr Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations ⚠
  • p.Ser238fs Single submitter Aicardi-Goutieres syndrome 1
  • p.Ser246_Ala247insSer Single submitter Aicardi-Goutieres syndrome 1
  • p.Ser246Pro Single submitter Aicardi-Goutieres syndrome 1 ⚠
  • p.Ser261Asn Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations ⚠
  • p.Ser261Gly Single submitter Aicardi-Goutieres syndrome 1 ⚠
  • p.Ser261Thr Single submitter chilblain lupus 1 ⚠
  • p.Ser263Arg Single submitter Aicardi-Goutieres syndrome 1 ⚠
  • p.Ser263Gly Single submitter retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations ⚠