RNASEH2B — 473 ClinVar variants
All ClinVar germline RNASEH2B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 133 flagged for review →
19 Pathogenic · 12 Pathogenic/Likely pathogenic · 20 Likely pathogenic · 15 Conflicting · 12 Benign · 6 Benign/Likely benign · 221 Likely benign · 168 Uncertain significance
Full RNASEH2B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 133
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.
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RNASEH2B p.Ala177Thr
Pathogenic/Likely pathogenic
Multiple submitters
Hereditary Spastic Paraplegia (HSP)
Predictors agree, ClinVar conflicts 5
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
RNASEH2B p.Asn152Ser
Conflicting
Single submitter
Aicardi-Goutieres syndrome 2
-
RNASEH2B p.Ile220Thr
Conflicting
Single submitter
Inborn genetic diseases
-
RNASEH2B p.Met31Thr
Conflicting
Single submitter
Aicardi-Goutieres syndrome 2
-
RNASEH2B p.Val175Met
Conflicting
Single submitter
Aicardi-Goutieres syndrome 2
-
RNASEH2B p.Val91Met
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 90
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
RNASEH2B p.Ala282Val
Uncertain significance
Multiple submitters
autism spectrum disorder
-
RNASEH2B p.Arg188Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RNASEH2B p.Asn147Thr
Uncertain significance
Multiple submitters
Aicardi-Goutieres syndrome 2
-
RNASEH2B p.Asn305Thr
Uncertain significance
Multiple submitters
Aicardi-Goutieres syndrome 2
-
RNASEH2B p.Asp105Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RNASEH2B p.Glu143Asp
Uncertain significance
Multiple submitters
Aicardi-Goutieres syndrome 2
-
RNASEH2B p.Glu62Lys
Uncertain significance
Multiple submitters
Aicardi-Goutieres syndrome 2
-
RNASEH2B p.Gly197Cys
Uncertain significance
Multiple submitters
Aicardi-Goutieres syndrome 2
-
RNASEH2B p.Gly310Arg
Uncertain significance
Multiple submitters
Aicardi-Goutieres syndrome 2
-
RNASEH2B p.Ile126Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RNASEH2B p.Leu84Val
Uncertain significance
Multiple submitters
Aicardi-Goutieres syndrome 2
-
RNASEH2B p.Lys103Arg
Uncertain significance
Multiple submitters
Aicardi-Goutieres syndrome 2
-
RNASEH2B p.Lys248Asn
Uncertain significance
Multiple submitters
Aicardi-Goutieres syndrome 2
-
RNASEH2B p.Ser159Asn
Uncertain significance
Multiple submitters
Aicardi-Goutieres syndrome 2
-
RNASEH2B p.Ser277Asn
Uncertain significance
Multiple submitters
Aicardi-Goutieres syndrome 2
-
RNASEH2B p.Ser81Ala
Uncertain significance
Multiple submitters
Aicardi-Goutieres syndrome 2
-
RNASEH2B p.Thr263Ala
Uncertain significance
Multiple submitters
Aicardi-Goutieres syndrome 2
-
RNASEH2B p.Val141Ala
Uncertain significance
Multiple submitters
Aicardi-Goutieres syndrome 2
-
RNASEH2B p.Val65Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RNASEH2B p.Ala193Thr
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 2
-
RNASEH2B p.Ala200Thr
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 2
-
RNASEH2B p.Ala239Ser
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 2
-
RNASEH2B p.Ala27Thr
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 2
-
RNASEH2B p.Ala27Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
RNASEH2B p.Ala49Val
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 2
- RNASEH2B p.Ala88Gly Uncertain significance Single submitter
-
RNASEH2B p.Arg210Cys
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 2
-
RNASEH2B p.Asn181Ser
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 2
-
RNASEH2B p.Asn305His
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 2
-
RNASEH2B p.Asp203Glu
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 2
-
RNASEH2B p.Asp203His
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 2
-
RNASEH2B p.Asp226Val
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 2
-
RNASEH2B p.Asp298Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
RNASEH2B p.Gln283His
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 2
-
RNASEH2B p.Gln58Arg
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 2
-
RNASEH2B p.Glu107Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
RNASEH2B p.Glu135Asp
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 2
-
RNASEH2B p.Glu206Asp
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 2
-
RNASEH2B p.Glu273Val
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 2
-
RNASEH2B p.Gly214Asp
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 2
-
RNASEH2B p.His140Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
RNASEH2B p.His16Tyr
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 2
-
RNASEH2B p.Ile102Val
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 2
-
RNASEH2B p.Ile150Val
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 2
-
RNASEH2B p.Ile216Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
RNASEH2B p.Ile216Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
RNASEH2B p.Ile297Thr
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 2
-
RNASEH2B p.Ile309Asn
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 2
-
RNASEH2B p.Leu134Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
RNASEH2B p.Leu241Phe
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 2
-
RNASEH2B p.Leu24Phe
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 2
-
RNASEH2B p.Leu270Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
RNASEH2B p.Leu57Ile
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 2
- RNASEH2B p.Leu85Pro Uncertain significance Single submitter
-
RNASEH2B p.Leu96Met
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 2
-
RNASEH2B p.Lys136Thr
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 2
-
RNASEH2B p.Lys222Glu
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 2
-
RNASEH2B p.Lys233Gln
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 2
-
RNASEH2B p.Lys288Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
RNASEH2B p.Lys29Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- RNASEH2B p.Lys306Glu Uncertain significance Single submitter
-
RNASEH2B p.Lys30Glu
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 2
-
RNASEH2B p.Lys67Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
RNASEH2B p.Met55Ile
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 2
-
RNASEH2B p.Phe195Leu
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 2
-
RNASEH2B p.Phe301Ser
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 2
-
RNASEH2B p.Pro132Thr
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 2
-
RNASEH2B p.Pro245Leu
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 2
-
RNASEH2B p.Pro255Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
RNASEH2B p.Ser159Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
RNASEH2B p.Ser186Gly
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 2
-
RNASEH2B p.Ser191Thr
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 2
-
RNASEH2B p.Ser201Pro
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 2
-
RNASEH2B p.Ser229Pro
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 2
-
RNASEH2B p.Ser240Leu
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 2
-
RNASEH2B p.Ser28Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
RNASEH2B p.Thr174Ala
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 2
-
RNASEH2B p.Thr174Ile
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 2
-
RNASEH2B p.Thr192Ile
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 2
-
RNASEH2B p.Thr280Pro
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 2
-
RNASEH2B p.Trp73Cys
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 2
-
RNASEH2B p.Tyr211His
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 2
-
RNASEH2B p.Tyr219His
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 2
-
RNASEH2B p.Val118Leu
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 2
-
RNASEH2B p.Val121Leu
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 2
-
RNASEH2B p.Val121Met
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 2
- RNASEH2B p.Val183Met Uncertain significance Single submitter
-
RNASEH2B p.Val189Leu
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 2
-
RNASEH2B p.Val256Ala
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 2
-
RNASEH2B p.Val41Ile
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 2
Predictors split 37
The independent predictors disagree with each other — read with care.
-
RNASEH2B p.Glu143Val
Uncertain significance
Multiple submitters
Aicardi-Goutieres syndrome 2
-
RNASEH2B p.Glu68Gln
Uncertain significance
Multiple submitters
Aicardi-Goutieres syndrome 2
-
RNASEH2B p.His213Arg
Uncertain significance
Multiple submitters
Aicardi-Goutieres syndrome 2
-
RNASEH2B p.Leu52Phe
Uncertain significance
Multiple submitters
Aicardi-Goutieres syndrome 2
-
RNASEH2B p.Leu85Phe
Uncertain significance
Multiple submitters
Aicardi-Goutieres syndrome 2
-
RNASEH2B p.Lys304Ile
Uncertain significance
Multiple submitters
Aicardi-Goutieres syndrome 2
-
RNASEH2B p.Phe110Leu
Uncertain significance
Multiple submitters
Aicardi-Goutieres syndrome 2
-
RNASEH2B p.Pro43His
Uncertain significance
Multiple submitters
Aicardi-Goutieres syndrome 2
-
RNASEH2B p.Pro43Ser
Uncertain significance
Multiple submitters
Aicardi-Goutieres syndrome 2
-
RNASEH2B p.Pro90Leu
Uncertain significance
Multiple submitters
Aicardi-Goutieres syndrome 2
- RNASEH2B p.Ala212Thr Likely pathogenic Single submitter
-
RNASEH2B p.Arg188Trp
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 2
-
RNASEH2B p.Arg210His
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 2
-
RNASEH2B p.Asp261Val
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 2
-
RNASEH2B p.Asp26Gly
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 2
-
RNASEH2B p.Gln115Glu
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 2
-
RNASEH2B p.Gln115His
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 2
-
RNASEH2B p.Gln80Arg
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 2
-
RNASEH2B p.Glu149Gln
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 2
-
RNASEH2B p.Glu205Gly
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 2
-
RNASEH2B p.Glu206Ala
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 2
-
RNASEH2B p.Glu68Gly
Conflicting
Single submitter
Aicardi-Goutieres syndrome 2
-
RNASEH2B p.Gly48Glu
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 2
-
RNASEH2B p.Gly83Val
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 2
-
RNASEH2B p.His213Gln
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 2
-
RNASEH2B p.His86Leu
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 2
-
RNASEH2B p.Ile75Val
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 2
-
RNASEH2B p.Leu138Phe
Conflicting
Single submitter
Aicardi-Goutieres syndrome 2
-
RNASEH2B p.Phe122Cys
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 2
-
RNASEH2B p.Phe194Leu
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 2
-
RNASEH2B p.Phe37Leu
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 2
-
RNASEH2B p.Pro90Arg
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 2
-
RNASEH2B p.Pro90Ser
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 2
-
RNASEH2B p.Tyr100Cys
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 2
-
RNASEH2B p.Tyr156Cys
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 2
-
RNASEH2B p.Tyr208Cys
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 2
- RNASEH2B p.Tyr262His Uncertain significance Single submitter
All RNASEH2B variants
Pathogenic 19
- c.136+1del Multiple submitters Aicardi-Goutieres syndrome 2
- c.510+1G>A Multiple submitters Aicardi-Goutieres syndrome 2
- p.Cys44Ter Multiple submitters RNASEH2B-related disorder
- p.Gln111Ter Multiple submitters Aicardi-Goutieres syndrome
- p.Val171fs Multiple submitters Aicardi-Goutieres syndrome 2
- p.Ala104_Lys106del Single submitter hereditary spastic paraplegia
- p.Ala2fs Single submitter Aicardi-Goutieres syndrome 2
- p.Asn33fs Single submitter Aicardi-Goutieres syndrome 2
- p.Cys44fs Single submitter Aicardi-Goutieres syndrome 2
- p.Glu223Ter Single submitter Aicardi-Goutieres syndrome 2
- p.Glu22fs Single submitter Aicardi-Goutieres syndrome 2
- p.Leu164fs Single submitter Aicardi-Goutieres syndrome 2
- p.Phe95fs Single submitter Aicardi-Goutieres syndrome 2
- p.Ser159fs Single submitter Aicardi-Goutieres syndrome 2
- p.Ser217fs Single submitter Aicardi-Goutieres syndrome 2
- p.Ser246Ter Single submitter Aicardi-Goutieres syndrome
- p.Tyr231Ter Single submitter Aicardi-Goutieres syndrome 2
- p.Tyr23Ter Single submitter Aicardi-Goutieres syndrome 2
- p.Val41fs Single submitter Aicardi-Goutieres syndrome 2
Pathogenic/Likely pathogenic 12
- c.437-1G>A Multiple submitters Aicardi-Goutieres syndrome 2
- c.510+1del Multiple submitters Aicardi-Goutieres syndrome 2
- c.511-1G>A Multiple submitters Aicardi-Goutieres syndrome 2
- c.65-13G>A Multiple submitters Aicardi-Goutieres syndrome 2
- p.Ala177Thr Multiple submitters Hereditary Spastic Paraplegia (HSP) ⚠
- p.Asp119Gly Multiple submitters RNASEH2B-related disorder
- p.Gln58Ter Multiple submitters Aicardi-Goutieres syndrome 2
- p.Ser240Ter Multiple submitters Aicardi-Goutieres syndrome 2
- p.Ser28Ter Multiple submitters Aicardi-Goutieres syndrome 2
- p.Thr163Ile Multiple submitters Aicardi-Goutieres syndrome 2
- p.Tyr156Ter Multiple submitters Aicardi-Goutieres syndrome 2
- p.Val185Gly Multiple submitters Aicardi-Goutieres syndrome 2
Likely pathogenic 20
- c.322-2A>T Multiple submitters Aicardi-Goutieres syndrome 2
- c.322-3C>G Multiple submitters Aicardi-Goutieres syndrome 2
- c.698+1G>A Multiple submitters RNASEH2B-related disorder
- p.Leu60Arg Multiple submitters Aicardi-Goutieres syndrome
- c.136+1G>T Single submitter RNASEH2B-related disorder
- c.244+1G>A Single submitter Aicardi-Goutieres syndrome 2
- c.244+2T>C Single submitter Aicardi-Goutieres syndrome 2
- c.245-2A>C Single submitter Aicardi-Goutieres syndrome 2
- c.245-2A>G Single submitter Aicardi-Goutieres syndrome 2
- c.436+1G>A Single submitter Aicardi-Goutieres syndrome 2
- c.511-13G>A Single submitter
- c.617-2A>G Single submitter Aicardi-Goutieres syndrome 2
- c.65-1G>A Single submitter Aicardi-Goutieres syndrome 2
- c.65-2A>G Single submitter Aicardi-Goutieres syndrome 2
- c.698+1G>C Single submitter Aicardi-Goutieres syndrome 2
- c.698+5G>A Single submitter
- c.742-1_742delinsAC Single submitter Aicardi-Goutieres syndrome 2
- p.Ala212Thr Single submitter ⚠
- p.Asn124fs Single submitter Aicardi-Goutieres syndrome 2
- p.Ser217Pro Single submitter
Conflicting classifications of pathogenicity 15
- c.136+8C>T Single submitter Global developmental delay
- c.245-8A>G Single submitter Aicardi-Goutieres syndrome 2
- c.322-17A>G Single submitter Aicardi-Goutieres syndrome 2
- p.Asn120= Single submitter Aicardi-Goutieres syndrome 2
- p.Asn152Ser Single submitter Aicardi-Goutieres syndrome 2 ⚠
- p.Glu68Gly Single submitter Aicardi-Goutieres syndrome 2 ⚠
- p.Ile220Thr Single submitter Inborn genetic diseases ⚠
- p.Leu138Phe Single submitter Aicardi-Goutieres syndrome 2 ⚠
- p.Lys170fs Single submitter Aicardi-Goutieres syndrome 2
- p.Met1Thr Single submitter Aicardi-Goutieres syndrome 2
- p.Met31Thr Single submitter Aicardi-Goutieres syndrome 2 ⚠
- p.Ser252= Single submitter Aicardi-Goutieres syndrome 2
- p.Thr299= Single submitter Aicardi-Goutieres syndrome 2
- p.Val175Met Single submitter Aicardi-Goutieres syndrome 2 ⚠
- p.Val91Met Single submitter Inborn genetic diseases ⚠
Benign 12
- c.321+113T>G Multiple submitters
- c.510+69G>A Multiple submitters
- c.823-80A>T Multiple submitters
- p.Val63= Multiple submitters Aicardi-Goutieres syndrome 2
- c.322-4del Single submitter Aicardi-Goutieres syndrome 2
- c.322-4dup Single submitter Aicardi-Goutieres syndrome 2
- c.437-1152A>G Single submitter
- c.437-9del Single submitter Aicardi-Goutieres syndrome 2
- c.437-9dup Single submitter Aicardi-Goutieres syndrome 2
- c.616+160G>A Single submitter
- c.64+169C>T Single submitter
- c.822+16T>C Single submitter Aicardi-Goutieres syndrome 2
Benign/Likely benign 6
- c.137-19G>C Multiple submitters Aicardi-Goutieres syndrome 2
- c.822+6T>C Multiple submitters Aicardi-Goutieres syndrome 2
- p.Ala287Ser Multiple submitters Aicardi-Goutieres syndrome 2
- p.Leu52= Multiple submitters Aicardi-Goutieres syndrome 2
- p.Thr263Ser Multiple submitters Aicardi-Goutieres syndrome 2
- p.Thr299Ala Multiple submitters Aicardi-Goutieres syndrome 2
Likely benign 221
- c.245-35C>T Multiple submitters
- c.321+18A>C Multiple submitters Aicardi-Goutieres syndrome 2
- c.322-54T>G Multiple submitters
- c.617-7C>G Multiple submitters Aicardi-Goutieres syndrome 2
- c.742-13T>C Multiple submitters Aicardi-Goutieres syndrome 2
- p.Arg188= Multiple submitters Aicardi-Goutieres syndrome 2
- p.Gln199= Multiple submitters Aicardi-Goutieres syndrome 2
- p.Glu254= Multiple submitters Aicardi-Goutieres syndrome 2
- p.Leu270= Multiple submitters Aicardi-Goutieres syndrome 2
- p.Phe61= Multiple submitters Aicardi-Goutieres syndrome 2
- p.Ser78= Multiple submitters Aicardi-Goutieres syndrome 2
- p.Val183= Multiple submitters Aicardi-Goutieres syndrome 2
- c.136+10C>G Single submitter Aicardi-Goutieres syndrome 2
- c.136+15C>A Single submitter Aicardi-Goutieres syndrome 2
- c.136+16A>G Single submitter Aicardi-Goutieres syndrome 2
- c.136+179A>C Single submitter
- c.137-10G>A Single submitter Aicardi-Goutieres syndrome 2
- c.137-11del Single submitter Aicardi-Goutieres syndrome 2
- c.137-15G>T Single submitter Aicardi-Goutieres syndrome 2
- c.137-17_137-14del Single submitter Aicardi-Goutieres syndrome 2
- c.137-8C>T Single submitter Aicardi-Goutieres syndrome 2
- c.244+12G>A Single submitter Aicardi-Goutieres syndrome 2
- c.244+7G>A Single submitter Aicardi-Goutieres syndrome 2
- c.244+9C>G Single submitter
- c.245-12T>C Single submitter Aicardi-Goutieres syndrome 2
- c.245-12T>G Single submitter Aicardi-Goutieres syndrome 2
- c.245-20_245-19del Single submitter Aicardi-Goutieres syndrome 2
- c.245-20A>T Single submitter Aicardi-Goutieres syndrome 2
- c.245-5T>C Single submitter Aicardi-Goutieres syndrome 2
- c.245-7T>C Single submitter Aicardi-Goutieres syndrome 2
- c.321+10C>T Single submitter Aicardi-Goutieres syndrome 2
- c.321+11A>G Single submitter Aicardi-Goutieres syndrome 2
- c.321+12G>T Single submitter Aicardi-Goutieres syndrome 2
- c.321+13C>T Single submitter Aicardi-Goutieres syndrome 2
- c.321+15C>G Single submitter Aicardi-Goutieres syndrome 2
- c.321+15C>T Single submitter Aicardi-Goutieres syndrome 2
- c.321+16_321+17dup Single submitter Aicardi-Goutieres syndrome 2
- c.321+16G>A Single submitter Aicardi-Goutieres syndrome 2
- c.321+16G>C Single submitter Aicardi-Goutieres syndrome 2
- c.321+18A>T Single submitter Aicardi-Goutieres syndrome 2
- c.321+20C>T Single submitter Aicardi-Goutieres syndrome 2
- c.322-10_322-9del Single submitter Aicardi-Goutieres syndrome 2
- c.322-10G>A Single submitter Aicardi-Goutieres syndrome 2
- c.322-10G>C Single submitter Aicardi-Goutieres syndrome 2
- c.322-14_322-11del Single submitter Aicardi-Goutieres syndrome 2
- c.322-14A>G Single submitter Aicardi-Goutieres syndrome 2
- c.322-15dup Single submitter Aicardi-Goutieres syndrome 2
- c.322-15T>C Single submitter Aicardi-Goutieres syndrome 2
- c.322-18A>G Single submitter Aicardi-Goutieres syndrome 2
- c.322-18A>T Single submitter Aicardi-Goutieres syndrome 2
- c.322-19C>A Single submitter Aicardi-Goutieres syndrome 2
- c.322-217T>C Single submitter
- c.322-4T>A Single submitter Aicardi-Goutieres syndrome 2
- c.322-5T>C Single submitter Aicardi-Goutieres syndrome 2
- c.322-5T>G Single submitter Aicardi-Goutieres syndrome 2
- c.322-9T>G Single submitter Aicardi-Goutieres syndrome 2
- c.436+10A>C Single submitter Aicardi-Goutieres syndrome 2
- c.436+17A>C Single submitter Aicardi-Goutieres syndrome 2
- c.436+8A>G Single submitter Aicardi-Goutieres syndrome 2
- c.437-18T>A Single submitter Aicardi-Goutieres syndrome 2
- c.437-20A>G Single submitter Aicardi-Goutieres syndrome 2
- c.437-5T>C Single submitter Aicardi-Goutieres syndrome 2
- c.437-9T>C Single submitter Aicardi-Goutieres syndrome 2
- c.510+10C>T Single submitter Aicardi-Goutieres syndrome 2
- c.510+12C>G Single submitter Aicardi-Goutieres syndrome 2
- c.510+12C>T Single submitter Aicardi-Goutieres syndrome 2
- c.510+13T>C Single submitter Aicardi-Goutieres syndrome 2
- c.510+17G>A Single submitter Aicardi-Goutieres syndrome 2
- c.510+18T>C Single submitter Aicardi-Goutieres syndrome 2
- c.510+19G>A Single submitter Aicardi-Goutieres syndrome 2
- c.510+7T>G Single submitter Aicardi-Goutieres syndrome 2
- c.511-16C>G Single submitter Aicardi-Goutieres syndrome 2
- c.511-16C>T Single submitter Aicardi-Goutieres syndrome 2
- c.511-18C>A Single submitter Aicardi-Goutieres syndrome 2
- c.511-19C>A Single submitter Aicardi-Goutieres syndrome 2
- c.511-4A>G Single submitter Aicardi-Goutieres syndrome 2
- c.511-4A>T Single submitter Aicardi-Goutieres syndrome 2
- c.511-5C>A Single submitter Aicardi-Goutieres syndrome 2
- c.511-9G>A Single submitter Aicardi-Goutieres syndrome 2
- c.616+10G>A Single submitter Aicardi-Goutieres syndrome 2
- c.616+10G>T Single submitter Aicardi-Goutieres syndrome 2
- c.616+12A>G Single submitter Aicardi-Goutieres syndrome 2
- c.616+13T>C Single submitter Aicardi-Goutieres syndrome 2
- c.616+16T>C Single submitter Aicardi-Goutieres syndrome 2
- c.616+9dup Single submitter Aicardi-Goutieres syndrome 2
- c.617-11G>A Single submitter Aicardi-Goutieres syndrome 2
- c.617-11G>C Single submitter Aicardi-Goutieres syndrome 2
- c.617-12del Single submitter Aicardi-Goutieres syndrome 2
- c.617-14_617-12del Single submitter Aicardi-Goutieres syndrome 2
- c.617-14T>C Single submitter Aicardi-Goutieres syndrome 2
- c.617-17_617-15del Single submitter Aicardi-Goutieres syndrome 2
- c.617-19C>T Single submitter Aicardi-Goutieres syndrome 2
- c.617-4T>C Single submitter Aicardi-Goutieres syndrome 2
- c.617-6T>A Single submitter Aicardi-Goutieres syndrome 2
- c.617-9_617-8del Single submitter Aicardi-Goutieres syndrome 2
- c.64+11G>A Single submitter Aicardi-Goutieres syndrome 2
- c.64+16C>G Single submitter Aicardi-Goutieres syndrome 2
- c.64+7_64+8del Single submitter Aicardi-Goutieres syndrome 2
- c.65-11T>C Single submitter Aicardi-Goutieres syndrome 2
- c.65-13G>C Single submitter Aicardi-Goutieres syndrome 2
- c.65-14C>T Single submitter Aicardi-Goutieres syndrome 2
- c.65-18T>A Single submitter Aicardi-Goutieres syndrome 2
- c.65-19A>G Single submitter Aicardi-Goutieres syndrome 2
- c.698+125A>G Single submitter
- c.698+13T>A Single submitter Aicardi-Goutieres syndrome 2
- c.698+14A>G Single submitter Aicardi-Goutieres syndrome 2
- c.698+16C>A Single submitter Aicardi-Goutieres syndrome 2
- c.698+19C>T Single submitter Aicardi-Goutieres syndrome 2
- c.699-10A>T Single submitter Aicardi-Goutieres syndrome 2
- c.699-20G>A Single submitter Aicardi-Goutieres syndrome 2
- c.699-4T>G Single submitter Aicardi-Goutieres syndrome 2
- c.699-6T>C Single submitter Aicardi-Goutieres syndrome 2
- c.741+10009C>T Single submitter
- c.741+10012G>A Single submitter
- c.741+11G>A Single submitter Aicardi-Goutieres syndrome 2
- c.741+20A>G Single submitter Aicardi-Goutieres syndrome 2
- c.741+8G>A Single submitter Aicardi-Goutieres syndrome 2
- c.741+8G>T Single submitter Aicardi-Goutieres syndrome 2
- c.741+9997G>A Single submitter
- c.742-12C>T Single submitter Aicardi-Goutieres syndrome 2
- c.742-135G>A Single submitter
- c.742-15G>T Single submitter Aicardi-Goutieres syndrome 2
- c.742-177G>A Single submitter
- c.742-18A>G Single submitter Aicardi-Goutieres syndrome 2
- c.742-19C>T Single submitter Aicardi-Goutieres syndrome 2
- c.742-20T>C Single submitter Aicardi-Goutieres syndrome 2
- c.822+13A>G Single submitter Aicardi-Goutieres syndrome 2
- c.822+14G>A Single submitter Aicardi-Goutieres syndrome 2
- c.822+15G>A Single submitter Aicardi-Goutieres syndrome 2
- c.822+15G>T Single submitter Aicardi-Goutieres syndrome 2
- c.822+18T>C Single submitter Aicardi-Goutieres syndrome 2
- c.822+8G>A Single submitter Aicardi-Goutieres syndrome 2
- c.822+9G>A Single submitter Aicardi-Goutieres syndrome 2
- c.823-13T>A Single submitter Aicardi-Goutieres syndrome 2
- c.823-13T>C Single submitter Aicardi-Goutieres syndrome 2
- c.823-16_823-15del Single submitter Aicardi-Goutieres syndrome 2
- c.823-17C>T Single submitter Aicardi-Goutieres syndrome 2
- c.823-18_823-15del Single submitter Aicardi-Goutieres syndrome 2
- c.823-18T>G Single submitter Aicardi-Goutieres syndrome 2
- c.823-19C>G Single submitter Aicardi-Goutieres syndrome 2
- c.823-5A>G Single submitter Aicardi-Goutieres syndrome 2
- c.823-6del Single submitter Aicardi-Goutieres syndrome 2
- c.823-8A>T Single submitter Aicardi-Goutieres syndrome 2
- c.823-9C>A Single submitter Aicardi-Goutieres syndrome 2
- c.*309G>A Single submitter
- p.Ala176= Single submitter Aicardi-Goutieres syndrome 2
- p.Ala177= Single submitter Aicardi-Goutieres syndrome 2
- p.Ala193= Single submitter Aicardi-Goutieres syndrome 2
- p.Ala239= Single submitter Aicardi-Goutieres syndrome 2
- p.Ala281= Single submitter Aicardi-Goutieres syndrome 2
- p.Ala285= Single submitter Aicardi-Goutieres syndrome 2
- p.Asn152= Single submitter Aicardi-Goutieres syndrome 2
- p.Asn276= Single submitter Aicardi-Goutieres syndrome 2
- p.Asn42= Single submitter Aicardi-Goutieres syndrome 2
- p.Asp26= Single submitter Aicardi-Goutieres syndrome 2
- p.Asp261= Single submitter Aicardi-Goutieres syndrome 2
- p.Asp290= Single submitter Aicardi-Goutieres syndrome 2
- p.Asp298= Single submitter Aicardi-Goutieres syndrome 2
- p.Cys125= Single submitter Aicardi-Goutieres syndrome 2
- p.Cys44= Single submitter Aicardi-Goutieres syndrome 2
- p.Gln111= Single submitter Aicardi-Goutieres syndrome 2
- p.Gln59= Single submitter Aicardi-Goutieres syndrome 2
- p.Gln77= Single submitter Aicardi-Goutieres syndrome 2
- p.Gln80= Single submitter Aicardi-Goutieres syndrome 2
- p.Glu143= Single submitter Aicardi-Goutieres syndrome 2
- p.Glu161= Single submitter Aicardi-Goutieres syndrome 2
- p.Gly108= Single submitter Aicardi-Goutieres syndrome 2
- p.Gly34= Single submitter Aicardi-Goutieres syndrome 2
- p.His140= Single submitter Aicardi-Goutieres syndrome 2
- p.His213= Single submitter Aicardi-Goutieres syndrome 2
- p.Ile50= Single submitter Aicardi-Goutieres syndrome 2
- p.Leu127= Single submitter Aicardi-Goutieres syndrome 2
- p.Leu129= Single submitter Aicardi-Goutieres syndrome 2
- p.Leu134= Single submitter Aicardi-Goutieres syndrome 2
- p.Leu164= Single submitter Aicardi-Goutieres syndrome 2
- p.Leu167= Single submitter Aicardi-Goutieres syndrome 2
- p.Leu215= Single submitter Aicardi-Goutieres syndrome 2
- p.Leu234= Single submitter Aicardi-Goutieres syndrome 2
- p.Leu24= Single submitter Aicardi-Goutieres syndrome 2
- p.Leu241= Single submitter Aicardi-Goutieres syndrome 2
- p.Leu251= Single submitter Aicardi-Goutieres syndrome 2
- p.Leu286= Single submitter Aicardi-Goutieres syndrome 2
- p.Leu57= Single submitter Aicardi-Goutieres syndrome 2
- p.Leu60= Single submitter Aicardi-Goutieres syndrome 2
- p.Leu85= Single submitter Aicardi-Goutieres syndrome 2
- p.Leu94= Single submitter Aicardi-Goutieres syndrome 2
- p.Leu96= Single submitter Aicardi-Goutieres syndrome 2
- p.Leu98= Single submitter Aicardi-Goutieres syndrome 2
- p.Lys106= Single submitter Aicardi-Goutieres syndrome 2
- p.Lys109= Single submitter Aicardi-Goutieres syndrome 2
- p.Lys136= Single submitter Aicardi-Goutieres syndrome 2
- p.Lys162= Single submitter Aicardi-Goutieres syndrome 2
- p.Lys271= Single submitter Aicardi-Goutieres syndrome 2
- p.Lys311= Single submitter Aicardi-Goutieres syndrome 2
- p.Lys32= Single submitter Aicardi-Goutieres syndrome 2
- p.Lys64= Single submitter Aicardi-Goutieres syndrome 2
- p.Lys69= Single submitter Aicardi-Goutieres syndrome 2
- p.Phe74= Single submitter Aicardi-Goutieres syndrome 2
- p.Pro112= Single submitter Aicardi-Goutieres syndrome 2
- p.Pro132= Single submitter Aicardi-Goutieres syndrome 2
- p.Pro148= Single submitter Aicardi-Goutieres syndrome 2
- p.Pro235= Single submitter Aicardi-Goutieres syndrome 2
- p.Pro242= Single submitter
- p.Pro245= Single submitter Aicardi-Goutieres syndrome 2
- p.Pro43= Single submitter Aicardi-Goutieres syndrome 2
- p.Ser187= Single submitter Aicardi-Goutieres syndrome 2
- p.Ser277= Single submitter Aicardi-Goutieres syndrome 2
- p.Thr142= Single submitter Aicardi-Goutieres syndrome 2
- p.Thr163= Single submitter Aicardi-Goutieres syndrome 2
- p.Thr174= Single submitter Aicardi-Goutieres syndrome 2
- p.Thr192= Single submitter Aicardi-Goutieres syndrome 2
- p.Thr263= Single submitter Aicardi-Goutieres syndrome 2
- p.Thr280= Single submitter Aicardi-Goutieres syndrome 2
- p.Tyr100= Single submitter Aicardi-Goutieres syndrome 2
- p.Tyr156= Single submitter Aicardi-Goutieres syndrome 2
- p.Tyr158= Single submitter Aicardi-Goutieres syndrome 2
- p.Tyr262= Single submitter Aicardi-Goutieres syndrome 2
- p.Tyr51= Single submitter Aicardi-Goutieres syndrome 2
- p.Val118= Single submitter Aicardi-Goutieres syndrome 2
- p.Val185= Single submitter Aicardi-Goutieres syndrome 2
- p.Val289= Single submitter Aicardi-Goutieres syndrome 2
Uncertain significance 168
- c.244+3A>G Multiple submitters Aicardi-Goutieres syndrome 2
- c.510+6G>T Multiple submitters Aicardi-Goutieres syndrome 2
- c.616+5del Multiple submitters Aicardi-Goutieres syndrome 2
- c.822+5G>A Multiple submitters Aicardi-Goutieres syndrome 2
- p.Ala282Val Multiple submitters autism spectrum disorder ⚠
- p.Arg188Gln Multiple submitters Inborn genetic diseases ⚠
- p.Asn147Thr Multiple submitters Aicardi-Goutieres syndrome 2 ⚠
- p.Asn305Thr Multiple submitters Aicardi-Goutieres syndrome 2 ⚠
- p.Asp105Ala Multiple submitters Inborn genetic diseases ⚠
- p.Asp290Asn Multiple submitters Aicardi-Goutieres syndrome 2
- p.Glu143Asp Multiple submitters Aicardi-Goutieres syndrome 2 ⚠
- p.Glu143Val Multiple submitters Aicardi-Goutieres syndrome 2 ⚠
- p.Glu62Lys Multiple submitters Aicardi-Goutieres syndrome 2 ⚠
- p.Glu68Gln Multiple submitters Aicardi-Goutieres syndrome 2 ⚠
- p.Gly197Cys Multiple submitters Aicardi-Goutieres syndrome 2 ⚠
- p.Gly302Arg Multiple submitters Inborn genetic diseases
- p.Gly302Glu Multiple submitters Aicardi-Goutieres syndrome 2
- p.Gly310Arg Multiple submitters Aicardi-Goutieres syndrome 2 ⚠
- p.His213Arg Multiple submitters Aicardi-Goutieres syndrome 2 ⚠
- p.Ile126Val Multiple submitters Inborn genetic diseases ⚠
- p.Leu52Phe Multiple submitters Aicardi-Goutieres syndrome 2 ⚠
- p.Leu84Val Multiple submitters Aicardi-Goutieres syndrome 2 ⚠
- p.Leu85Phe Multiple submitters Aicardi-Goutieres syndrome 2 ⚠
- p.Lys103Arg Multiple submitters Aicardi-Goutieres syndrome 2 ⚠
- p.Lys248Asn Multiple submitters Aicardi-Goutieres syndrome 2 ⚠
- p.Lys304Ile Multiple submitters Aicardi-Goutieres syndrome 2 ⚠
- p.Lys306Ter Multiple submitters Aicardi-Goutieres syndrome 2
- p.Phe110Leu Multiple submitters Aicardi-Goutieres syndrome 2 ⚠
- p.Pro43His Multiple submitters Aicardi-Goutieres syndrome 2 ⚠
- p.Pro43Ser Multiple submitters Aicardi-Goutieres syndrome 2 ⚠
- p.Pro90Leu Multiple submitters Aicardi-Goutieres syndrome 2 ⚠
- p.Ser159Asn Multiple submitters Aicardi-Goutieres syndrome 2 ⚠
- p.Ser277Asn Multiple submitters Aicardi-Goutieres syndrome 2 ⚠
- p.Ser81Ala Multiple submitters Aicardi-Goutieres syndrome 2 ⚠
- p.Thr263Ala Multiple submitters Aicardi-Goutieres syndrome 2 ⚠
- p.Val141Ala Multiple submitters Aicardi-Goutieres syndrome 2 ⚠
- p.Val65Ile Multiple submitters Inborn genetic diseases ⚠
- c.137-13T>G Single submitter Aicardi-Goutieres syndrome 2
- c.137-4A>C Single submitter Aicardi-Goutieres syndrome 2
- c.244+6T>C Single submitter Aicardi-Goutieres syndrome 2
- c.431_436+1del Single submitter
- c.436+6G>C Single submitter Aicardi-Goutieres syndrome 2
- c.510+3A>G Single submitter Aicardi-Goutieres syndrome 2
- c.511-22_511-20delinsGAA Single submitter Aicardi-Goutieres syndrome 2
- c.616+2dup Single submitter Aicardi-Goutieres syndrome 2
- c.699-11A>G Single submitter Aicardi-Goutieres syndrome 2
- c.699-9C>G Single submitter Aicardi-Goutieres syndrome 2
- c.741+6A>G Single submitter Aicardi-Goutieres syndrome 2
- c.742-9A>G Single submitter Aicardi-Goutieres syndrome 2
- c.-181G>A Single submitter Aicardi-Goutieres syndrome 2
- c.*12T>C Single submitter Aicardi-Goutieres syndrome 2
- c.*159A>G Single submitter Aicardi-Goutieres syndrome 2
- c.*174C>T Single submitter Aicardi-Goutieres syndrome 2
- c.*246A>G Single submitter Aicardi-Goutieres syndrome 2
- c.*249T>C Single submitter Aicardi-Goutieres syndrome 2
- c.*29A>G Single submitter Aicardi-Goutieres syndrome 2
- c.*63G>T Single submitter Aicardi-Goutieres syndrome 2
- c.*76T>A Single submitter Aicardi-Goutieres syndrome 2
- p.Ala193Thr Single submitter Aicardi-Goutieres syndrome 2 ⚠
- p.Ala200Thr Single submitter Aicardi-Goutieres syndrome 2 ⚠
- p.Ala239Ser Single submitter Aicardi-Goutieres syndrome 2 ⚠
- p.Ala27Thr Single submitter Aicardi-Goutieres syndrome 2 ⚠
- p.Ala27Val Single submitter Inborn genetic diseases ⚠
- p.Ala2Pro Single submitter Aicardi-Goutieres syndrome 2
- p.Ala49Val Single submitter Aicardi-Goutieres syndrome 2 ⚠
- p.Ala88Gly Single submitter ⚠
- p.Arg188Trp Single submitter Aicardi-Goutieres syndrome 2 ⚠
- p.Arg210Cys Single submitter Aicardi-Goutieres syndrome 2 ⚠
- p.Arg210His Single submitter Aicardi-Goutieres syndrome 2 ⚠
- p.Asn181Ser Single submitter Aicardi-Goutieres syndrome 2 ⚠
- p.Asn276fs Single submitter Aicardi-Goutieres syndrome 2
- p.Asn305fs Single submitter Aicardi-Goutieres syndrome 2
- p.Asn305His Single submitter Aicardi-Goutieres syndrome 2 ⚠
- p.Asn54Lys Single submitter Aicardi-Goutieres syndrome 2
- p.Asp203Glu Single submitter Aicardi-Goutieres syndrome 2 ⚠
- p.Asp203His Single submitter Aicardi-Goutieres syndrome 2 ⚠
- p.Asp226Val Single submitter Aicardi-Goutieres syndrome 2 ⚠
- p.Asp261Val Single submitter Aicardi-Goutieres syndrome 2 ⚠
- p.Asp26Gly Single submitter Aicardi-Goutieres syndrome 2 ⚠
- p.Asp298Gly Single submitter Inborn genetic diseases ⚠
- p.Gln115Glu Single submitter Aicardi-Goutieres syndrome 2 ⚠
- p.Gln115His Single submitter Aicardi-Goutieres syndrome 2 ⚠
- p.Gln283His Single submitter Aicardi-Goutieres syndrome 2 ⚠
- p.Gln58Arg Single submitter Aicardi-Goutieres syndrome 2 ⚠
- p.Gln80Arg Single submitter Aicardi-Goutieres syndrome 2 ⚠
- p.Glu107= Single submitter Aicardi-Goutieres syndrome 2
- p.Glu107Lys Single submitter Inborn genetic diseases ⚠
- p.Glu135Asp Single submitter Aicardi-Goutieres syndrome 2 ⚠
- p.Glu149Gln Single submitter Aicardi-Goutieres syndrome 2 ⚠
- p.Glu205Gly Single submitter Aicardi-Goutieres syndrome 2 ⚠
- p.Glu206_Asp207delinsAspAsn Single submitter Aicardi-Goutieres syndrome 2
- p.Glu206Ala Single submitter Aicardi-Goutieres syndrome 2 ⚠
- p.Glu206Asp Single submitter Aicardi-Goutieres syndrome 2 ⚠
- p.Glu273fs Single submitter
- p.Glu273Val Single submitter Aicardi-Goutieres syndrome 2 ⚠
- p.Gly214Asp Single submitter Aicardi-Goutieres syndrome 2 ⚠
- p.Gly256Asp Single submitter Aicardi-Goutieres syndrome 2
- p.Gly310fs Single submitter Aicardi-Goutieres syndrome 2
- p.Gly48Glu Single submitter Aicardi-Goutieres syndrome 2 ⚠
- p.Gly83Val Single submitter Aicardi-Goutieres syndrome 2 ⚠
- p.His140Arg Single submitter Inborn genetic diseases ⚠
- p.His16Tyr Single submitter Aicardi-Goutieres syndrome 2 ⚠
- p.His213Gln Single submitter Aicardi-Goutieres syndrome 2 ⚠
- p.His86Leu Single submitter Aicardi-Goutieres syndrome 2 ⚠
- p.Ile102Val Single submitter Aicardi-Goutieres syndrome 2 ⚠
- p.Ile150Val Single submitter Aicardi-Goutieres syndrome 2 ⚠
- p.Ile216Thr Single submitter Inborn genetic diseases ⚠
- p.Ile216Val Single submitter Inborn genetic diseases ⚠
- p.Ile297Thr Single submitter Aicardi-Goutieres syndrome 2 ⚠
- p.Ile309Asn Single submitter Aicardi-Goutieres syndrome 2 ⚠
- p.Ile309fs Single submitter Aicardi-Goutieres syndrome 2
- p.Ile75Val Single submitter Aicardi-Goutieres syndrome 2 ⚠
- p.Leu134Val Single submitter Inborn genetic diseases ⚠
- p.Leu241Phe Single submitter Aicardi-Goutieres syndrome 2 ⚠
- p.Leu24Phe Single submitter Aicardi-Goutieres syndrome 2 ⚠
- p.Leu270Val Single submitter Inborn genetic diseases ⚠
- p.Leu57Ile Single submitter Aicardi-Goutieres syndrome 2 ⚠
- p.Leu85Pro Single submitter ⚠
- p.Leu96Met Single submitter Aicardi-Goutieres syndrome 2 ⚠
- p.Lys136Thr Single submitter Aicardi-Goutieres syndrome 2 ⚠
- p.Lys170= Single submitter Aicardi-Goutieres syndrome 2
- p.Lys222Glu Single submitter Aicardi-Goutieres syndrome 2 ⚠
- p.Lys233Gln Single submitter Aicardi-Goutieres syndrome 2 ⚠
- p.Lys257Arg Single submitter Inborn genetic diseases
- p.Lys274fs Single submitter Aicardi-Goutieres syndrome 2
- p.Lys288Glu Single submitter Inborn genetic diseases ⚠
- p.Lys29Glu Single submitter Inborn genetic diseases ⚠
- p.Lys306Glu Single submitter ⚠
- p.Lys30del Single submitter Aicardi-Goutieres syndrome 2
- p.Lys30Glu Single submitter Aicardi-Goutieres syndrome 2 ⚠
- p.Lys67Arg Single submitter Inborn genetic diseases ⚠
- p.Met36del Single submitter Aicardi-Goutieres syndrome 2
- p.Met55Ile Single submitter Aicardi-Goutieres syndrome 2 ⚠
- p.Phe122Cys Single submitter Aicardi-Goutieres syndrome 2 ⚠
- p.Phe194Leu Single submitter Aicardi-Goutieres syndrome 2 ⚠
- p.Phe195Leu Single submitter Aicardi-Goutieres syndrome 2 ⚠
- p.Phe301Ser Single submitter Aicardi-Goutieres syndrome 2 ⚠
- p.Phe37Leu Single submitter Aicardi-Goutieres syndrome 2 ⚠
- p.Pro132Thr Single submitter Aicardi-Goutieres syndrome 2 ⚠
- p.Pro245Leu Single submitter Aicardi-Goutieres syndrome 2 ⚠
- p.Pro255Ala Single submitter Inborn genetic diseases ⚠
- p.Pro90Arg Single submitter Aicardi-Goutieres syndrome 2 ⚠
- p.Pro90Ser Single submitter Aicardi-Goutieres syndrome 2 ⚠
- p.Ser159Arg Single submitter Inborn genetic diseases ⚠
- p.Ser186Gly Single submitter Aicardi-Goutieres syndrome 2 ⚠
- p.Ser191Thr Single submitter Aicardi-Goutieres syndrome 2 ⚠
- p.Ser201Pro Single submitter Aicardi-Goutieres syndrome 2 ⚠
- p.Ser229Pro Single submitter Aicardi-Goutieres syndrome 2 ⚠
- p.Ser240Leu Single submitter Aicardi-Goutieres syndrome 2 ⚠
- p.Ser28Leu Single submitter Inborn genetic diseases ⚠
- p.Thr174Ala Single submitter Aicardi-Goutieres syndrome 2 ⚠
- p.Thr174Ile Single submitter Aicardi-Goutieres syndrome 2 ⚠
- p.Thr192Ile Single submitter Aicardi-Goutieres syndrome 2 ⚠
- p.Thr280Pro Single submitter Aicardi-Goutieres syndrome 2 ⚠
- p.Trp73Cys Single submitter Aicardi-Goutieres syndrome 2 ⚠
- p.Tyr100Cys Single submitter Aicardi-Goutieres syndrome 2 ⚠
- p.Tyr156Cys Single submitter Aicardi-Goutieres syndrome 2 ⚠
- p.Tyr208Cys Single submitter Aicardi-Goutieres syndrome 2 ⚠
- p.Tyr211His Single submitter Aicardi-Goutieres syndrome 2 ⚠
- p.Tyr219His Single submitter Aicardi-Goutieres syndrome 2 ⚠
- p.Tyr262His Single submitter ⚠
- p.Val118Leu Single submitter Aicardi-Goutieres syndrome 2 ⚠
- p.Val121Leu Single submitter Aicardi-Goutieres syndrome 2 ⚠
- p.Val121Met Single submitter Aicardi-Goutieres syndrome 2 ⚠
- p.Val183Met Single submitter ⚠
- p.Val189Leu Single submitter Aicardi-Goutieres syndrome 2 ⚠
- p.Val256Ala Single submitter Aicardi-Goutieres syndrome 2 ⚠
- p.Val41Ile Single submitter Aicardi-Goutieres syndrome 2 ⚠