RNASEH2C — 312 ClinVar variants
All ClinVar germline RNASEH2C variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 106 flagged for review →
1 Pathogenic · 1 Pathogenic/Likely pathogenic · 4 Likely pathogenic · 11 Conflicting · 9 Benign · 6 Benign/Likely benign · 123 Likely benign · 157 Uncertain significance
Full RNASEH2C gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 106
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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RNASEH2C p.Arg69Trp
Pathogenic/Likely pathogenic
Multiple submitters
RNASEH2C-related disorder
Predictors agree, ClinVar conflicts 3
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
RNASEH2C p.Gly65Asp
Conflicting
Single submitter
Aicardi-Goutieres syndrome 3
-
RNASEH2C p.Pro98Ser
Conflicting
Single submitter
Aicardi-Goutieres syndrome 3
-
RNASEH2C p.Val83Met
Conflicting
Single submitter
Aicardi-Goutieres syndrome 3
Predictors lean, ClinVar uncertain 75
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
RNASEH2C p.Arg145Leu
Uncertain significance
Multiple submitters
Aicardi-Goutieres syndrome 3
-
RNASEH2C p.Asp117His
Uncertain significance
Multiple submitters
Aicardi-Goutieres syndrome 3
-
RNASEH2C p.Asp164Gly
Uncertain significance
Multiple submitters
Aicardi-Goutieres syndrome 3
-
RNASEH2C p.Gln160Lys
Uncertain significance
Multiple submitters
Aicardi-Goutieres syndrome 3
-
RNASEH2C p.Glu110Lys
Uncertain significance
Multiple submitters
Aicardi-Goutieres syndrome 3
-
RNASEH2C p.Glu87Lys
Uncertain significance
Multiple submitters
Aicardi-Goutieres syndrome 3
-
RNASEH2C p.His158Asp
Uncertain significance
Multiple submitters
Aicardi-Goutieres syndrome 3
-
RNASEH2C p.Ile120Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RNASEH2C p.Leu99Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RNASEH2C p.Lys90Glu
Uncertain significance
Multiple submitters
Aicardi-Goutieres syndrome 3
-
RNASEH2C p.Lys90Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RNASEH2C p.Pro98Ala
Uncertain significance
Multiple submitters
Aicardi-Goutieres syndrome 3
-
RNASEH2C p.Ser102Phe
Uncertain significance
Multiple submitters
Aicardi-Goutieres syndrome 3
-
RNASEH2C p.Ser152Asn
Uncertain significance
Multiple submitters
Aicardi-Goutieres syndrome 3
-
RNASEH2C p.Thr149Ser
Uncertain significance
Multiple submitters
Aicardi-Goutieres syndrome 3
- RNASEH2C c.*1115C>T Uncertain significance Single submitter
- RNASEH2C c.*1133A>G Uncertain significance Single submitter
-
RNASEH2C p.Ala122Thr
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 3
-
RNASEH2C p.Ala142Gly
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 3
-
RNASEH2C p.Ala147Val
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 3
- RNASEH2C p.Ala154Val Uncertain significance Single submitter
-
RNASEH2C p.Ala155Thr
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 3
- RNASEH2C p.Ala74Gly Uncertain significance Single submitter
-
RNASEH2C p.Ala74Val
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 3
-
RNASEH2C p.Ala7Val
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 3
-
RNASEH2C p.Ala8Pro
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 3
-
RNASEH2C p.Arg100Gln
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 3
-
RNASEH2C p.Arg100Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
RNASEH2C p.Arg11Gly
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 3
-
RNASEH2C p.Arg11Lys
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 3
-
RNASEH2C p.Asn125Ile
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 3
-
RNASEH2C p.Asn125Ser
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 3
-
RNASEH2C p.Asp105Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
RNASEH2C p.Asp105His
Uncertain significance
Single submitter
Inborn genetic diseases
-
RNASEH2C p.Asp106Asn
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 3
-
RNASEH2C p.Asp115Asn
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 3
- RNASEH2C p.Asp117Tyr Uncertain significance Single submitter
-
RNASEH2C p.Asp5Glu
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 3
-
RNASEH2C p.Asp97Asn
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 3
-
RNASEH2C p.Glu108Lys
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 3
-
RNASEH2C p.Glu110Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
RNASEH2C p.Glu163Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
RNASEH2C p.Glu2Ala
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 3
-
RNASEH2C p.Glu60Lys
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 3
-
RNASEH2C p.Glu87Asp
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 3
-
RNASEH2C p.Gly103Arg
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 3
-
RNASEH2C p.Gly146Ala
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 3
-
RNASEH2C p.Gly4Arg
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 3
-
RNASEH2C p.Gly4Ser
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 3
-
RNASEH2C p.Gly65Ser
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 3
-
RNASEH2C p.Gly65Val
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 3
-
RNASEH2C p.His12Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
RNASEH2C p.His12Pro
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 3
-
RNASEH2C p.His158Tyr
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 3
-
RNASEH2C p.Ile157Asn
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 3
-
RNASEH2C p.Ile9Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
RNASEH2C p.Leu79Val
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 3
- RNASEH2C p.Lys143Arg Uncertain significance Single submitter
-
RNASEH2C p.Lys90Thr
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 3
- RNASEH2C p.Lys95Arg Uncertain significance Single submitter
-
RNASEH2C p.Phe126Cys
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 3
-
RNASEH2C p.Pro111Leu
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 3
-
RNASEH2C p.Pro140Gln
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 3
-
RNASEH2C p.Pro151Leu
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 3
-
RNASEH2C p.Pro98Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
RNASEH2C p.Ser152Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
RNASEH2C p.Thr104Ile
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 3
-
RNASEH2C p.Thr123Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
RNASEH2C p.Tyr82Cys
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 3
-
RNASEH2C p.Val75Leu
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 3
-
RNASEH2C p.Val75Met
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 3
-
RNASEH2C p.Val85Gly
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 3
-
RNASEH2C p.Val85Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
RNASEH2C p.Val91Leu
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 3
-
RNASEH2C p.Gly133Asp
Uncertain significance
No assertion criteria
Aicardi-Goutieres syndrome 3
Predictors split 27
The independent predictors disagree with each other — read with care.
-
RNASEH2C p.Asp164Val
Uncertain significance
Multiple submitters
Aicardi-Goutieres syndrome 3
-
RNASEH2C p.Asp39Tyr
Uncertain significance
Multiple submitters
Aicardi-Goutieres syndrome 3
-
RNASEH2C p.Gly78Ala
Uncertain significance
Multiple submitters
Aicardi-Goutieres syndrome 3
-
RNASEH2C p.Leu59Ile
Uncertain significance
Multiple submitters
Aicardi-Goutieres syndrome 3
-
RNASEH2C p.Leu59Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RNASEH2C p.Leu68Val
Uncertain significance
Multiple submitters
Aicardi-Goutieres syndrome 3
-
RNASEH2C p.Pro41Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
- RNASEH2C c.*1170C>T Uncertain significance Single submitter
-
RNASEH2C c.*706T>A
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 3
-
RNASEH2C p.Ala124Val
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 3
-
RNASEH2C p.Ala147Thr
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 3
-
RNASEH2C p.Arg66Cys
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 3
- RNASEH2C p.Glu135Gln Uncertain significance Single submitter
-
RNASEH2C p.Glu135Gly
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 3
-
RNASEH2C p.Glu72Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
RNASEH2C p.Glu87Gly
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 3
- RNASEH2C p.Leu134Gln Uncertain significance Single submitter
-
RNASEH2C p.Leu134Val
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 3
-
RNASEH2C p.Leu59Val
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 3
-
RNASEH2C p.Lys143Ile
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 3
-
RNASEH2C p.Met84Thr
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 3
-
RNASEH2C p.Phe116Leu
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 3
-
RNASEH2C p.Phe119Leu
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 3
-
RNASEH2C p.Pro151Ser
Conflicting
Single submitter
Aicardi-Goutieres syndrome
-
RNASEH2C p.Pro76Leu
Conflicting
Single submitter
Aicardi-Goutieres syndrome 3
-
RNASEH2C p.Ser152Ile
Uncertain significance
Single submitter
Aicardi-Goutieres syndrome 3
-
RNASEH2C p.Val73Ala
Uncertain significance
Single submitter
Inborn genetic diseases
All RNASEH2C variants
Pathogenic 1
- p.Glu72_Val73delinsValAla Single submitter Aicardi-Goutieres syndrome
Pathogenic/Likely pathogenic 1
- p.Arg69Trp Multiple submitters RNASEH2C-related disorder ⚠
Likely pathogenic 4
- p.Gln160Ter Single submitter
- p.Pro138Ser Single submitter Aicardi-Goutieres syndrome 3
- p.Trp150Cys Single submitter Aicardi-Goutieres syndrome 3
- p.Trp150Ter Single submitter
Conflicting classifications of pathogenicity 11
- c.173-14G>A Single submitter Aicardi-Goutieres syndrome 3
- c.468+8G>A Single submitter Aicardi-Goutieres syndrome 3
- c.469-7G>T Single submitter Aicardi-Goutieres syndrome 3
- c.*719T>G Single submitter Aicardi-Goutieres syndrome 3
- p.Glu60fs Single submitter Inborn genetic diseases
- p.Gly139= Single submitter Aicardi-Goutieres syndrome 3
- p.Gly65Asp Single submitter Aicardi-Goutieres syndrome 3 ⚠
- p.Pro151Ser Single submitter Aicardi-Goutieres syndrome ⚠
- p.Pro76Leu Single submitter Aicardi-Goutieres syndrome 3 ⚠
- p.Pro98Ser Single submitter Aicardi-Goutieres syndrome 3 ⚠
- p.Val83Met Single submitter Aicardi-Goutieres syndrome 3 ⚠
Benign 9
- c.*1527A>C Multiple submitters Aicardi-Goutieres syndrome 3
- c.*1776C>T Multiple submitters Aicardi-Goutieres syndrome 3
- c.*1917T>C Multiple submitters Aicardi-Goutieres syndrome 3
- c.*2036C>T Multiple submitters Aicardi-Goutieres syndrome 3
- c.*2097C>T Multiple submitters Aicardi-Goutieres syndrome 3
- c.*572C>T Multiple submitters Aicardi-Goutieres syndrome 3
- c.*948dup Multiple submitters Aicardi-Goutieres syndrome 3
- c.*1621A>G Single submitter Aicardi-Goutieres syndrome 3
- p.Arg66= Single submitter Aicardi-Goutieres syndrome 3
Benign/Likely benign 6
- c.468+13G>A Multiple submitters Aicardi-Goutieres syndrome 3
- c.-10A>G Multiple submitters Aicardi-Goutieres syndrome 3
- c.*1007C>G Multiple submitters Aicardi-Goutieres syndrome 3
- c.*1295T>C Multiple submitters Aicardi-Goutieres syndrome 3
- p.Ala156= Multiple submitters Aicardi-Goutieres syndrome 3
- p.Lys90del Multiple submitters Aicardi-Goutieres syndrome 3
Likely benign 123
- c.348+19T>C Multiple submitters Aicardi-Goutieres syndrome 3
- c.349-16C>T Multiple submitters Aicardi-Goutieres syndrome 3
- c.349-9C>T Multiple submitters Aicardi-Goutieres syndrome 3
- c.468+11G>A Multiple submitters Aicardi-Goutieres syndrome 3
- c.468+14G>A Multiple submitters Aicardi-Goutieres syndrome 3
- c.468+16G>A Multiple submitters Aicardi-Goutieres syndrome 3
- c.468+8G>C Multiple submitters Aicardi-Goutieres syndrome 3
- c.469-9C>G Multiple submitters Aicardi-Goutieres syndrome 3
- c.*1017G>A Multiple submitters Aicardi-Goutieres syndrome 3
- p.Arg64= Multiple submitters Aicardi-Goutieres syndrome 3
- p.Glu71= Multiple submitters Aicardi-Goutieres syndrome 3
- c.173-12C>T Single submitter Aicardi-Goutieres syndrome 3
- c.173-13C>T Single submitter Aicardi-Goutieres syndrome 3
- c.173-15C>T Single submitter Aicardi-Goutieres syndrome 3
- c.173-20C>T Single submitter Aicardi-Goutieres syndrome 3
- c.173-4C>T Single submitter Aicardi-Goutieres syndrome 3
- c.173-5T>C Single submitter Aicardi-Goutieres syndrome 3
- c.348+10G>A Single submitter Aicardi-Goutieres syndrome 3
- c.348+10G>C Single submitter Aicardi-Goutieres syndrome 3
- c.348+11G>A Single submitter Aicardi-Goutieres syndrome 3
- c.348+11G>C Single submitter Aicardi-Goutieres syndrome 3
- c.348+12G>A Single submitter Aicardi-Goutieres syndrome 3
- c.348+12G>C Single submitter Aicardi-Goutieres syndrome 3
- c.348+16G>A Single submitter Aicardi-Goutieres syndrome 3
- c.348+17G>A Single submitter Aicardi-Goutieres syndrome 3
- c.348+17G>C Single submitter Aicardi-Goutieres syndrome 3
- c.348+17G>T Single submitter Aicardi-Goutieres syndrome 3
- c.348+18G>A Single submitter Aicardi-Goutieres syndrome 3
- c.348+19T>G Single submitter Aicardi-Goutieres syndrome 3
- c.348+20T>G Single submitter Aicardi-Goutieres syndrome 3
- c.348+7A>G Single submitter Aicardi-Goutieres syndrome 3
- c.348+7A>T Single submitter Aicardi-Goutieres syndrome 3
- c.349-10C>T Single submitter Aicardi-Goutieres syndrome 3
- c.349-12C>A Single submitter Aicardi-Goutieres syndrome 3
- c.349-12C>G Single submitter Aicardi-Goutieres syndrome 3
- c.349-12C>T Single submitter Aicardi-Goutieres syndrome 3
- c.349-13G>A Single submitter Aicardi-Goutieres syndrome 3
- c.349-14G>C Single submitter Aicardi-Goutieres syndrome 3
- c.349-18G>A Single submitter Aicardi-Goutieres syndrome 3
- c.349-6C>T Single submitter Aicardi-Goutieres syndrome 3
- c.349-8T>G Single submitter Aicardi-Goutieres syndrome 3
- c.349-9C>G Single submitter Aicardi-Goutieres syndrome 3
- c.468+10C>G Single submitter Aicardi-Goutieres syndrome 3
- c.468+10C>T Single submitter Aicardi-Goutieres syndrome 3
- c.468+12_468+13del Single submitter Aicardi-Goutieres syndrome 3
- c.468+13G>C Single submitter Aicardi-Goutieres syndrome 3
- c.468+14G>T Single submitter Aicardi-Goutieres syndrome 3
- c.468+15_468+22del Single submitter Aicardi-Goutieres syndrome 3
- c.468+17T>C Single submitter Aicardi-Goutieres syndrome 3
- c.468+18T>C Single submitter Aicardi-Goutieres syndrome 3
- c.468+20C>T Single submitter Aicardi-Goutieres syndrome 3
- c.468+20del Single submitter Aicardi-Goutieres syndrome 3
- c.468+7A>G Single submitter Aicardi-Goutieres syndrome 3
- c.469-10C>T Single submitter Aicardi-Goutieres syndrome 3
- c.469-11T>G Single submitter Aicardi-Goutieres syndrome 3
- c.469-12C>A Single submitter Aicardi-Goutieres syndrome 3
- c.469-12C>G Single submitter Aicardi-Goutieres syndrome 3
- c.469-14G>T Single submitter Aicardi-Goutieres syndrome 3
- c.469-15C>T Single submitter Aicardi-Goutieres syndrome 3
- c.469-17G>A Single submitter Aicardi-Goutieres syndrome 3
- c.469-19G>A Single submitter Aicardi-Goutieres syndrome 3
- c.469-20A>G Single submitter Aicardi-Goutieres syndrome 3
- c.469-9C>T Single submitter Aicardi-Goutieres syndrome 3
- c.*295C>T Single submitter Aicardi-Goutieres syndrome 3
- c.*310C>T Single submitter Aicardi-Goutieres syndrome 3
- c.*542G>A Single submitter Aicardi-Goutieres syndrome 3
- c.*692A>G Single submitter
- c.*853G>A Single submitter
- p.Ala124= Single submitter Aicardi-Goutieres syndrome 3
- p.Ala142= Single submitter Aicardi-Goutieres syndrome 3
- p.Ala147= Single submitter Aicardi-Goutieres syndrome 3
- p.Ala7= Single submitter Aicardi-Goutieres syndrome 3
- p.Ala74= Single submitter Aicardi-Goutieres syndrome 3
- p.Ala8= Single submitter Aicardi-Goutieres syndrome 3
- p.Arg11= Single submitter Aicardi-Goutieres syndrome 3
- p.Arg114= Single submitter Aicardi-Goutieres syndrome 3
- p.Arg145= Single submitter Aicardi-Goutieres syndrome 3
- p.Arg22= Single submitter Aicardi-Goutieres syndrome 3
- p.Asp105= Single submitter Aicardi-Goutieres syndrome 3
- p.Asp5= Single submitter Aicardi-Goutieres syndrome 3
- p.Glu108= Single submitter Aicardi-Goutieres syndrome 3
- p.Glu135= Single submitter Aicardi-Goutieres syndrome 3
- p.Glu163= Single submitter Aicardi-Goutieres syndrome 3
- p.Glu2= Single submitter Aicardi-Goutieres syndrome 3
- p.Glu6= Single submitter Aicardi-Goutieres syndrome 3
- p.Glu72= Single submitter Aicardi-Goutieres syndrome 3
- p.Glu87= Single submitter Aicardi-Goutieres syndrome 3
- p.Gly103= Single submitter Aicardi-Goutieres syndrome 3
- p.Gly133= Single submitter Aicardi-Goutieres syndrome 3
- p.Gly146= Single submitter Aicardi-Goutieres syndrome 3
- p.Gly4= Single submitter Aicardi-Goutieres syndrome 3
- p.Gly40= Single submitter Aicardi-Goutieres syndrome 3
- p.Gly58= Single submitter Aicardi-Goutieres syndrome 3
- p.Gly81= Single submitter Aicardi-Goutieres syndrome 3
- p.His158= Single submitter Aicardi-Goutieres syndrome 3
- p.Ile137= Single submitter Aicardi-Goutieres syndrome 3
- p.Ile9= Single submitter Aicardi-Goutieres syndrome 3
- p.Leu112= Single submitter Aicardi-Goutieres syndrome 3
- p.Leu131= Single submitter Aicardi-Goutieres syndrome 3
- p.Leu134= Single submitter Aicardi-Goutieres syndrome 3
- p.Leu153= Single submitter Aicardi-Goutieres syndrome 3
- p.Leu32= Single submitter Aicardi-Goutieres syndrome 3
- p.Leu79= Single submitter Aicardi-Goutieres syndrome 3
- p.Leu99= Single submitter Aicardi-Goutieres syndrome 3
- p.Lys89= Single submitter Aicardi-Goutieres syndrome 3
- p.Phe119= Single submitter Aicardi-Goutieres syndrome 3
- p.Pro111= Single submitter Aicardi-Goutieres syndrome 3
- p.Pro140= Single submitter Aicardi-Goutieres syndrome 3
- p.Pro162= Single submitter Aicardi-Goutieres syndrome 3
- p.Pro98= Single submitter Aicardi-Goutieres syndrome 3
- p.Ser102= Single submitter Aicardi-Goutieres syndrome 3
- p.Ser127= Single submitter Aicardi-Goutieres syndrome 3
- p.Ser3= Single submitter Aicardi-Goutieres syndrome 3
- p.Ser62= Single submitter Aicardi-Goutieres syndrome 3
- p.Thr123= Single submitter Aicardi-Goutieres syndrome 3
- p.Thr149= Single submitter Aicardi-Goutieres syndrome 3
- p.Thr86= Single submitter Aicardi-Goutieres syndrome 3
- p.Tyr82= Single submitter Aicardi-Goutieres syndrome 3
- p.Val161= Single submitter Aicardi-Goutieres syndrome 3
- p.Val80= Single submitter Aicardi-Goutieres syndrome 3
- p.Val83= Single submitter Aicardi-Goutieres syndrome 3
- p.Val85= Single submitter Aicardi-Goutieres syndrome 3
- p.Gln107= No assertion criteria RNASEH2C-related disorder
Uncertain significance 157
- c.348+6C>T Multiple submitters Aicardi-Goutieres syndrome 3
- c.468+5G>A Multiple submitters Aicardi-Goutieres syndrome 3
- c.468+5G>C Multiple submitters Aicardi-Goutieres syndrome 3
- p.Arg145Leu Multiple submitters Aicardi-Goutieres syndrome 3 ⚠
- p.Asp117His Multiple submitters Aicardi-Goutieres syndrome 3 ⚠
- p.Asp164Gly Multiple submitters Aicardi-Goutieres syndrome 3 ⚠
- p.Asp164Val Multiple submitters Aicardi-Goutieres syndrome 3 ⚠
- p.Asp39Tyr Multiple submitters Aicardi-Goutieres syndrome 3 ⚠
- p.Gln160Lys Multiple submitters Aicardi-Goutieres syndrome 3 ⚠
- p.Glu110Lys Multiple submitters Aicardi-Goutieres syndrome 3 ⚠
- p.Glu110Pro Multiple submitters Aicardi-Goutieres syndrome 3
- p.Glu87Lys Multiple submitters Aicardi-Goutieres syndrome 3 ⚠
- p.Gly78Ala Multiple submitters Aicardi-Goutieres syndrome 3 ⚠
- p.His158Asp Multiple submitters Aicardi-Goutieres syndrome 3 ⚠
- p.His158fs Multiple submitters Aicardi-Goutieres syndrome 3
- p.Ile120Val Multiple submitters Inborn genetic diseases ⚠
- p.Leu59Ile Multiple submitters Aicardi-Goutieres syndrome 3 ⚠
- p.Leu59Pro Multiple submitters Inborn genetic diseases ⚠
- p.Leu68Val Multiple submitters Aicardi-Goutieres syndrome 3 ⚠
- p.Leu99Phe Multiple submitters Inborn genetic diseases ⚠
- p.Lys90Glu Multiple submitters Aicardi-Goutieres syndrome 3 ⚠
- p.Lys90Met Multiple submitters Inborn genetic diseases ⚠
- p.Pro162fs Multiple submitters RNASEH2C-related disorder
- p.Pro41Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro98Ala Multiple submitters Aicardi-Goutieres syndrome 3 ⚠
- p.Ser102Phe Multiple submitters Aicardi-Goutieres syndrome 3 ⚠
- p.Ser152Asn Multiple submitters Aicardi-Goutieres syndrome 3 ⚠
- p.Ter165Cys Multiple submitters Aicardi-Goutieres syndrome 3
- p.Thr149Ser Multiple submitters Aicardi-Goutieres syndrome 3 ⚠
- c.173-4C>G Single submitter Aicardi-Goutieres syndrome 3
- c.348+1G>A Single submitter Aicardi-Goutieres syndrome 3
- c.469-14_469-9del Single submitter Aicardi-Goutieres syndrome 3
- c.-186A>C Single submitter Aicardi-Goutieres syndrome 3
- c.-27G>T Single submitter Aicardi-Goutieres syndrome 3
- c.-89C>G Single submitter Aicardi-Goutieres syndrome 3
- c.*1033C>T Single submitter
- c.*1115C>T Single submitter ⚠
- c.*1133A>G Single submitter ⚠
- c.*1170C>T Single submitter ⚠
- c.*1217G>C Single submitter Aicardi-Goutieres syndrome 3
- c.*1378G>C Single submitter Aicardi-Goutieres syndrome 3
- c.*13G>C Single submitter
- c.*1504G>A Single submitter Aicardi-Goutieres syndrome 3
- c.*1532G>A Single submitter Aicardi-Goutieres syndrome 3
- c.*1594G>A Single submitter Aicardi-Goutieres syndrome 3
- c.*1658G>C Single submitter Aicardi-Goutieres syndrome 3
- c.*1699G>C Single submitter Aicardi-Goutieres syndrome 3
- c.*1737C>T Single submitter Aicardi-Goutieres syndrome 3
- c.*1768C>T Single submitter Aicardi-Goutieres syndrome 3
- c.*1778C>G Single submitter Aicardi-Goutieres syndrome 3
- c.*178C>G Single submitter Aicardi-Goutieres syndrome 3
- c.*1806G>A Single submitter Aicardi-Goutieres syndrome 3
- c.*1831G>A Single submitter Aicardi-Goutieres syndrome 3
- c.*1977C>T Single submitter Aicardi-Goutieres syndrome 3
- c.*223G>A Single submitter Aicardi-Goutieres syndrome 3
- c.*27C>G Single submitter Aicardi-Goutieres syndrome 3
- c.*29A>G Single submitter Aicardi-Goutieres syndrome 3
- c.*317C>T Single submitter Aicardi-Goutieres syndrome 3
- c.*363C>T Single submitter Aicardi-Goutieres syndrome 3
- c.*374T>G Single submitter Aicardi-Goutieres syndrome 3
- c.*385C>A Single submitter Aicardi-Goutieres syndrome 3
- c.*440G>C Single submitter Aicardi-Goutieres syndrome 3
- c.*451C>T Single submitter Aicardi-Goutieres syndrome 3
- c.*456G>A Single submitter Aicardi-Goutieres syndrome 3
- c.*532C>G Single submitter Aicardi-Goutieres syndrome 3
- c.*541C>T Single submitter Aicardi-Goutieres syndrome 3
- c.*560C>T Single submitter Aicardi-Goutieres syndrome 3
- c.*624C>T Single submitter
- c.*706T>A Single submitter Aicardi-Goutieres syndrome 3 ⚠
- c.*747G>A Single submitter Aicardi-Goutieres syndrome 3
- c.*78A>G Single submitter Aicardi-Goutieres syndrome 3
- c.*862A>C Single submitter Aicardi-Goutieres syndrome 3
- c.*940A>G Single submitter Aicardi-Goutieres syndrome 3
- p.Ala122Thr Single submitter Aicardi-Goutieres syndrome 3 ⚠
- p.Ala124Val Single submitter Aicardi-Goutieres syndrome 3 ⚠
- p.Ala142Gly Single submitter Aicardi-Goutieres syndrome 3 ⚠
- p.Ala147fs Single submitter
- p.Ala147Thr Single submitter Aicardi-Goutieres syndrome 3 ⚠
- p.Ala147Val Single submitter Aicardi-Goutieres syndrome 3 ⚠
- p.Ala154Val Single submitter ⚠
- p.Ala155Thr Single submitter Aicardi-Goutieres syndrome 3 ⚠
- p.Ala74Gly Single submitter ⚠
- p.Ala74Val Single submitter Aicardi-Goutieres syndrome 3 ⚠
- p.Ala7Val Single submitter Aicardi-Goutieres syndrome 3 ⚠
- p.Ala8Pro Single submitter Aicardi-Goutieres syndrome 3 ⚠
- p.Arg100Gln Single submitter Aicardi-Goutieres syndrome 3 ⚠
- p.Arg100Trp Single submitter Inborn genetic diseases ⚠
- p.Arg11Gly Single submitter Aicardi-Goutieres syndrome 3 ⚠
- p.Arg11Lys Single submitter Aicardi-Goutieres syndrome 3 ⚠
- p.Arg66Cys Single submitter Aicardi-Goutieres syndrome 3 ⚠
- p.Asn125Ile Single submitter Aicardi-Goutieres syndrome 3 ⚠
- p.Asn125Ser Single submitter Aicardi-Goutieres syndrome 3 ⚠
- p.Asp105Asn Single submitter Inborn genetic diseases ⚠
- p.Asp105His Single submitter Inborn genetic diseases ⚠
- p.Asp106Asn Single submitter Aicardi-Goutieres syndrome 3 ⚠
- p.Asp115Asn Single submitter Aicardi-Goutieres syndrome 3 ⚠
- p.Asp117Tyr Single submitter ⚠
- p.Asp5Glu Single submitter Aicardi-Goutieres syndrome 3 ⚠
- p.Asp97Asn Single submitter Aicardi-Goutieres syndrome 3 ⚠
- p.Glu108Lys Single submitter Aicardi-Goutieres syndrome 3 ⚠
- p.Glu110del Single submitter Aicardi-Goutieres syndrome 3
- p.Glu110Gln Single submitter Inborn genetic diseases ⚠
- p.Glu135Gln Single submitter ⚠
- p.Glu135Gly Single submitter Aicardi-Goutieres syndrome 3 ⚠
- p.Glu163fs Single submitter
- p.Glu163Lys Single submitter Inborn genetic diseases ⚠
- p.Glu2Ala Single submitter Aicardi-Goutieres syndrome 3 ⚠
- p.Glu60Lys Single submitter Aicardi-Goutieres syndrome 3 ⚠
- p.Glu72Val Single submitter Inborn genetic diseases ⚠
- p.Glu87Asp Single submitter Aicardi-Goutieres syndrome 3 ⚠
- p.Glu87Gly Single submitter Aicardi-Goutieres syndrome 3 ⚠
- p.Gly103Arg Single submitter Aicardi-Goutieres syndrome 3 ⚠
- p.Gly146Ala Single submitter Aicardi-Goutieres syndrome 3 ⚠
- p.Gly4Arg Single submitter Aicardi-Goutieres syndrome 3 ⚠
- p.Gly4Ser Single submitter Aicardi-Goutieres syndrome 3 ⚠
- p.Gly65Ser Single submitter Aicardi-Goutieres syndrome 3 ⚠
- p.Gly65Val Single submitter Aicardi-Goutieres syndrome 3 ⚠
- p.His12Arg Single submitter Inborn genetic diseases ⚠
- p.His12Pro Single submitter Aicardi-Goutieres syndrome 3 ⚠
- p.His158Tyr Single submitter Aicardi-Goutieres syndrome 3 ⚠
- p.Ile157Asn Single submitter Aicardi-Goutieres syndrome 3 ⚠
- p.Ile9Met Single submitter Inborn genetic diseases ⚠
- p.Leu134Gln Single submitter ⚠
- p.Leu134Val Single submitter Aicardi-Goutieres syndrome 3 ⚠
- p.Leu59Val Single submitter Aicardi-Goutieres syndrome 3 ⚠
- p.Leu79Val Single submitter Aicardi-Goutieres syndrome 3 ⚠
- p.Lys143Arg Single submitter ⚠
- p.Lys143Ile Single submitter Aicardi-Goutieres syndrome 3 ⚠
- p.Lys89fs Single submitter Aicardi-Goutieres syndrome 3
- p.Lys90Thr Single submitter Aicardi-Goutieres syndrome 3 ⚠
- p.Lys90Val Single submitter Aicardi-Goutieres syndrome 3
- p.Lys95Arg Single submitter ⚠
- p.Met84Thr Single submitter Aicardi-Goutieres syndrome 3 ⚠
- p.Phe116Leu Single submitter Aicardi-Goutieres syndrome 3 ⚠
- p.Phe119Leu Single submitter Aicardi-Goutieres syndrome 3 ⚠
- p.Phe126Cys Single submitter Aicardi-Goutieres syndrome 3 ⚠
- p.Pro111Leu Single submitter Aicardi-Goutieres syndrome 3 ⚠
- p.Pro140Gln Single submitter Aicardi-Goutieres syndrome 3 ⚠
- p.Pro151Leu Single submitter Aicardi-Goutieres syndrome 3 ⚠
- p.Pro76= Single submitter
- p.Pro98Leu Single submitter Inborn genetic diseases ⚠
- p.Ser152Arg Single submitter Inborn genetic diseases ⚠
- p.Ser152Ile Single submitter Aicardi-Goutieres syndrome 3 ⚠
- p.Ter165Trp Single submitter
- p.Thr104Ile Single submitter Aicardi-Goutieres syndrome 3 ⚠
- p.Thr123Ile Single submitter Inborn genetic diseases ⚠
- p.Tyr82Cys Single submitter Aicardi-Goutieres syndrome 3 ⚠
- p.Tyr82His Single submitter Aicardi-Goutieres syndrome 3
- p.Val161Ala Single submitter Aicardi-Goutieres syndrome 3
- p.Val73Ala Single submitter Inborn genetic diseases ⚠
- p.Val75Leu Single submitter Aicardi-Goutieres syndrome 3 ⚠
- p.Val75Met Single submitter Aicardi-Goutieres syndrome 3 ⚠
- p.Val85Gly Single submitter Aicardi-Goutieres syndrome 3 ⚠
- p.Val85Met Single submitter Inborn genetic diseases ⚠
- p.Val91Leu Single submitter Aicardi-Goutieres syndrome 3 ⚠
- p.Arg145Pro No assertion criteria Aicardi-Goutieres syndrome 3
- p.Gly133Asp No assertion criteria Aicardi-Goutieres syndrome 3 ⚠