Sugi Variant

Sugi Variant/RNASEH2A

RNASEH2A — 464 ClinVar variants

All ClinVar germline RNASEH2A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 155 flagged for review →

14 Pathogenic · 4 Pathogenic/Likely pathogenic · 19 Likely pathogenic · 16 Conflicting · 13 Benign · 10 Benign/Likely benign · 211 Likely benign · 177 Uncertain significance

Full RNASEH2A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 155

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 6

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

Predictors lean, ClinVar uncertain 121

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

Predictors split 27

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

All RNASEH2A variants

Pathogenic 14

  • p.Glu197fs Multiple submitters RNASEH2A-related disorder
  • p.Ala182fs Single submitter Aicardi-Goutieres syndrome 4
  • p.Glu75Ter Single submitter Aicardi-Goutieres syndrome 4
  • p.Glu77fs Single submitter Aicardi-Goutieres syndrome 4
  • p.Gly90fs Single submitter Aicardi-Goutieres syndrome 4
  • p.Leu116fs Single submitter Aicardi-Goutieres syndrome 4
  • p.Leu54fs Single submitter Aicardi-Goutieres syndrome 4
  • p.Lys69fs Single submitter Aicardi-Goutieres syndrome 4
  • p.Phe80fs Single submitter Aicardi-Goutieres syndrome 4
  • p.Pro158fs Single submitter Aicardi-Goutieres syndrome 4
  • p.Ser115Ter Single submitter Aicardi-Goutieres syndrome 4
  • p.Thr136fs Single submitter Aicardi-Goutieres syndrome 4
  • p.Tyr149Ter Single submitter Aicardi-Goutieres syndrome 4
  • p.Tyr287His Single submitter Aicardi-Goutieres syndrome 4

Pathogenic/Likely pathogenic 4

  • p.Arg186Gln Multiple submitters Aicardi-Goutieres syndrome 4
  • p.Arg186Trp Multiple submitters Aicardi-Goutieres syndrome
  • p.Thr70fs Multiple submitters RNASEH2A-related disorder
  • p.Trp219Ter Multiple submitters Aicardi-Goutieres syndrome 4

Likely pathogenic 19

  • c.199+1G>C Multiple submitters RNASEH2A-related disorder
  • p.Arg235Gln Multiple submitters Inborn genetic diseases
  • c.200-1G>T Single submitter Aicardi-Goutieres syndrome 4
  • c.323+1G>A Single submitter Aicardi-Goutieres syndrome 4
  • c.323+1G>T Single submitter Aicardi-Goutieres syndrome 4
  • c.549+1G>A Single submitter Aicardi-Goutieres syndrome 4
  • c.549+1G>T Single submitter Aicardi-Goutieres syndrome 4
  • c.637+1G>A Single submitter Aicardi-Goutieres syndrome 4
  • c.638-2A>G Single submitter Aicardi-Goutieres syndrome 4
  • c.762-2A>G Single submitter Aicardi-Goutieres syndrome 4
  • c.762-2del Single submitter RNASEH2A-related disorder
  • p.Arg235Pro Single submitter Aicardi-Goutieres syndrome 4
  • p.Cys181Ter Single submitter Aicardi-Goutieres syndrome 4
  • p.Gln126Ter Single submitter RNASEH2A-related disorder
  • p.Glu197Gly Single submitter Inborn genetic diseases ⚠
  • p.Gly107Glu Single submitter Aicardi-Goutieres syndrome 4 ⚠
  • p.Thr240fs Single submitter Aicardi-Goutieres syndrome 4
  • p.Trp193Arg Single submitter Aicardi-Goutieres syndrome 4
  • p.Val224fs Single submitter Aicardi-Goutieres syndrome 4

Conflicting classifications of pathogenicity 16

  • c.199+8C>G Single submitter Aicardi-Goutieres syndrome 4
  • c.550-13G>A Single submitter Aicardi-Goutieres syndrome 4
  • c.637+8G>A Single submitter Aicardi-Goutieres syndrome 4
  • c.762-13C>G Single submitter Aicardi-Goutieres syndrome 4
  • c.*16G>T Single submitter Aicardi-Goutieres syndrome 4
  • p.Ala249Val Single submitter Aicardi-Goutieres syndrome 4 ⚠
  • p.Arg108Trp Single submitter Aicardi-Goutieres syndrome ⚠
  • p.Arg235Trp Single submitter Aicardi-Goutieres syndrome 4 ⚠
  • p.Arg286Gln Single submitter Aicardi-Goutieres syndrome 4 ⚠
  • p.Asn134= Single submitter Aicardi-Goutieres syndrome 4
  • p.Glu260Gly Single submitter Inborn genetic diseases ⚠
  • p.Ile253Thr Single submitter Aicardi-Goutieres syndrome 4 ⚠
  • p.Leu60Pro Single submitter Aicardi-Goutieres syndrome 4 ⚠
  • p.Lys110Gln Single submitter Inborn genetic diseases
  • p.Tyr172= Single submitter Aicardi-Goutieres syndrome 4
  • p.Val95= Single submitter Aicardi-Goutieres syndrome 4

Benign 13

Benign/Likely benign 10

  • c.411+17T>A Multiple submitters Aicardi-Goutieres syndrome 4
  • c.412-6T>G Multiple submitters Aicardi-Goutieres syndrome 4
  • c.550-11T>C Multiple submitters Aicardi-Goutieres syndrome 4
  • p.Asp205Glu Multiple submitters Aicardi-Goutieres syndrome 4
  • p.Gln154= Multiple submitters Aicardi-Goutieres syndrome 4
  • p.Leu113= Multiple submitters Aicardi-Goutieres syndrome 4
  • p.Leu202Ser Multiple submitters Aicardi-Goutieres syndrome 4
  • p.Lys221Arg Multiple submitters Aicardi-Goutieres syndrome 4
  • p.Phe228= Multiple submitters Aicardi-Goutieres syndrome 4
  • p.Ser259= Multiple submitters Aicardi-Goutieres syndrome 4

Likely benign 211

  • c.128-13C>T Multiple submitters Aicardi-Goutieres syndrome 4
  • c.199+18G>C Multiple submitters Aicardi-Goutieres syndrome 4
  • c.199+9G>A Multiple submitters Aicardi-Goutieres syndrome 4
  • c.199+9G>C Multiple submitters Aicardi-Goutieres syndrome 4
  • c.200-8C>T Multiple submitters Aicardi-Goutieres syndrome 4
  • c.323+20G>A Multiple submitters Aicardi-Goutieres syndrome 4
  • c.411+19G>T Multiple submitters Aicardi-Goutieres syndrome 4
  • c.549+19A>G Multiple submitters Aicardi-Goutieres syndrome 4
  • c.549+19A>T Multiple submitters Aicardi-Goutieres syndrome 4
  • c.761+16G>A Multiple submitters Aicardi-Goutieres syndrome 4
  • p.Ala151= Multiple submitters Aicardi-Goutieres syndrome 4
  • p.Ala249= Multiple submitters Aicardi-Goutieres syndrome 4
  • p.Arg291= Multiple submitters Aicardi-Goutieres syndrome 4
  • p.Asp187= Multiple submitters Aicardi-Goutieres syndrome 4
  • p.Leu72= Multiple submitters Aicardi-Goutieres syndrome 4
  • p.Lys247= Multiple submitters Aicardi-Goutieres syndrome 4
  • p.Phe195= Multiple submitters Aicardi-Goutieres syndrome 4
  • p.Pro158= Multiple submitters Aicardi-Goutieres syndrome 4
  • p.Pro44= Multiple submitters Aicardi-Goutieres syndrome 4
  • p.Thr122= Multiple submitters Aicardi-Goutieres syndrome 4
  • p.Thr240= Multiple submitters Aicardi-Goutieres syndrome 4
  • p.Val224= Multiple submitters Aicardi-Goutieres syndrome 4
  • c.128-11C>G Single submitter Aicardi-Goutieres syndrome 4
  • c.128-12C>T Single submitter Aicardi-Goutieres syndrome 4
  • c.128-13C>A Single submitter Aicardi-Goutieres syndrome 4
  • c.128-14C>A Single submitter Aicardi-Goutieres syndrome 4
  • c.128-16C>T Single submitter Aicardi-Goutieres syndrome 4
  • c.128-20C>T Single submitter Aicardi-Goutieres syndrome 4
  • c.128-20del Single submitter Aicardi-Goutieres syndrome 4
  • c.128-4C>A Single submitter Aicardi-Goutieres syndrome 4
  • c.128-4C>G Single submitter Aicardi-Goutieres syndrome 4
  • c.199+11G>C Single submitter Aicardi-Goutieres syndrome 4
  • c.199+12G>T Single submitter Aicardi-Goutieres syndrome 4
  • c.199+17C>G Single submitter Aicardi-Goutieres syndrome 4
  • c.199+18G>A Single submitter Aicardi-Goutieres syndrome 4
  • c.199+8C>T Single submitter Aicardi-Goutieres syndrome 4
  • c.199+9G>T Single submitter Aicardi-Goutieres syndrome 4
  • c.200-11C>T Single submitter Aicardi-Goutieres syndrome 4
  • c.200-12A>T Single submitter Aicardi-Goutieres syndrome 4
  • c.200-13A>T Single submitter Aicardi-Goutieres syndrome 4
  • c.200-15C>T Single submitter Aicardi-Goutieres syndrome 4
  • c.200-16C>G Single submitter Aicardi-Goutieres syndrome 4
  • c.200-19C>T Single submitter Aicardi-Goutieres syndrome 4
  • c.200-20T>G Single submitter Aicardi-Goutieres syndrome 4
  • c.200-6_200-4del Single submitter Aicardi-Goutieres syndrome 4
  • c.323+10C>T Single submitter Aicardi-Goutieres syndrome 4
  • c.323+11C>T Single submitter Aicardi-Goutieres syndrome 4
  • c.323+12C>T Single submitter Aicardi-Goutieres syndrome 4
  • c.323+13C>T Single submitter Aicardi-Goutieres syndrome 4
  • c.323+14G>A Single submitter Aicardi-Goutieres syndrome 4
  • c.323+17A>C Single submitter Aicardi-Goutieres syndrome 4
  • c.323+8G>A Single submitter
  • c.324-10C>G Single submitter Aicardi-Goutieres syndrome 4
  • c.324-10C>T Single submitter Aicardi-Goutieres syndrome 4
  • c.324-16C>G Single submitter Aicardi-Goutieres syndrome 4
  • c.324-17T>G Single submitter Aicardi-Goutieres syndrome 4
  • c.324-37_324-10del Single submitter Aicardi-Goutieres syndrome 4
  • c.324-5C>G Single submitter Aicardi-Goutieres syndrome 4
  • c.324-5C>T Single submitter Aicardi-Goutieres syndrome 4
  • c.324-6C>A Single submitter Aicardi-Goutieres syndrome 4
  • c.324-7A>G Single submitter Aicardi-Goutieres syndrome 4
  • c.324-8C>T Single submitter Aicardi-Goutieres syndrome 4
  • c.411+10C>G Single submitter Aicardi-Goutieres syndrome 4
  • c.411+10C>T Single submitter Aicardi-Goutieres syndrome 4
  • c.411+12_411+13del Single submitter Aicardi-Goutieres syndrome 4
  • c.411+15A>T Single submitter Aicardi-Goutieres syndrome 4
  • c.412-11T>G Single submitter Aicardi-Goutieres syndrome 4
  • c.412-12T>C Single submitter Aicardi-Goutieres syndrome 4
  • c.412-15C>T Single submitter Aicardi-Goutieres syndrome 4
  • c.412-17G>A Single submitter Aicardi-Goutieres syndrome 4
  • c.412-18T>C Single submitter Aicardi-Goutieres syndrome 4
  • c.412-20T>C Single submitter Aicardi-Goutieres syndrome 4
  • c.412-7G>A Single submitter Aicardi-Goutieres syndrome 4
  • c.549+13C>A Single submitter Aicardi-Goutieres syndrome 4
  • c.549+17C>T Single submitter Aicardi-Goutieres syndrome 4
  • c.549+18C>T Single submitter Aicardi-Goutieres syndrome 4
  • c.549+7A>G Single submitter Aicardi-Goutieres syndrome 4
  • c.549+9C>T Single submitter Aicardi-Goutieres syndrome 4
  • c.550-13G>C Single submitter Aicardi-Goutieres syndrome 4
  • c.550-16C>A Single submitter
  • c.550-16C>G Single submitter Aicardi-Goutieres syndrome 4
  • c.550-16C>T Single submitter Aicardi-Goutieres syndrome 4
  • c.550-17G>A Single submitter Aicardi-Goutieres syndrome 4
  • c.550-4A>C Single submitter Aicardi-Goutieres syndrome 4
  • c.550-6C>T Single submitter Aicardi-Goutieres syndrome 4
  • c.550-8G>A Single submitter Aicardi-Goutieres syndrome 4
  • c.550-9T>C Single submitter Aicardi-Goutieres syndrome 4
  • c.550-9T>G Single submitter Aicardi-Goutieres syndrome 4
  • c.637+12C>T Single submitter Aicardi-Goutieres syndrome 4
  • c.637+13G>T Single submitter Aicardi-Goutieres syndrome 4
  • c.637+14T>A Single submitter Aicardi-Goutieres syndrome 4
  • c.637+15G>A Single submitter Aicardi-Goutieres syndrome 4
  • c.637+18C>G Single submitter Aicardi-Goutieres syndrome 4
  • c.637+18C>T Single submitter Aicardi-Goutieres syndrome 4
  • c.637+19A>C Single submitter Aicardi-Goutieres syndrome 4
  • c.637+19A>G Single submitter Aicardi-Goutieres syndrome 4
  • c.637+20T>C Single submitter Aicardi-Goutieres syndrome 4
  • c.637+9A>G Single submitter Aicardi-Goutieres syndrome 4
  • c.638-14C>T Single submitter Aicardi-Goutieres syndrome 4
  • c.638-15C>G Single submitter Aicardi-Goutieres syndrome 4
  • c.638-15C>T Single submitter Aicardi-Goutieres syndrome 4
  • c.638-19A>G Single submitter Aicardi-Goutieres syndrome 4
  • c.638-4C>T Single submitter Aicardi-Goutieres syndrome 4
  • c.638-9C>A Single submitter Aicardi-Goutieres syndrome 4
  • c.761+11T>C Single submitter Aicardi-Goutieres syndrome 4
  • c.761+12G>A Single submitter Aicardi-Goutieres syndrome 4
  • c.761+12G>T Single submitter Aicardi-Goutieres syndrome 4
  • c.761+13G>A Single submitter Aicardi-Goutieres syndrome 4
  • c.761+14A>T Single submitter Aicardi-Goutieres syndrome 4
  • c.761+15T>G Single submitter Aicardi-Goutieres syndrome 4
  • c.761+18C>T Single submitter Aicardi-Goutieres syndrome 4
  • c.761+20dup Single submitter Aicardi-Goutieres syndrome 4
  • c.761+20T>C Single submitter Aicardi-Goutieres syndrome 4
  • c.762-11C>G Single submitter Aicardi-Goutieres syndrome 4
  • c.762-14C>A Single submitter Aicardi-Goutieres syndrome 4
  • c.762-18A>G Single submitter Aicardi-Goutieres syndrome 4
  • c.762-5C>T Single submitter Aicardi-Goutieres syndrome 4
  • c.762-9C>A Single submitter Aicardi-Goutieres syndrome 4
  • c.*123G>A Single submitter Aicardi-Goutieres syndrome 4
  • p.Ala121= Single submitter Aicardi-Goutieres syndrome 4
  • p.Ala128= Single submitter Aicardi-Goutieres syndrome 4
  • p.Ala178= Single submitter Aicardi-Goutieres syndrome 4
  • p.Ala189= Single submitter Aicardi-Goutieres syndrome 4
  • p.Ala218= Single submitter Aicardi-Goutieres syndrome 4
  • p.Ala241= Single submitter Aicardi-Goutieres syndrome 4
  • p.Ala258= Single submitter Aicardi-Goutieres syndrome 4
  • p.Ala279Thr Single submitter Inborn genetic diseases
  • p.Ala62= Single submitter Aicardi-Goutieres syndrome 4
  • p.Ala92= Single submitter Aicardi-Goutieres syndrome 4
  • p.Ala92Val Single submitter Aicardi-Goutieres syndrome 4 ⚠
  • p.Arg152= Single submitter Aicardi-Goutieres syndrome 4
  • p.Arg235= Single submitter Aicardi-Goutieres syndrome 4
  • p.Arg239= Single submitter Aicardi-Goutieres syndrome 4
  • p.Arg76= Single submitter Aicardi-Goutieres syndrome 4
  • p.Arg78= Single submitter Aicardi-Goutieres syndrome 4
  • p.Asn112= Single submitter Aicardi-Goutieres syndrome 4
  • p.Asn274= Single submitter Aicardi-Goutieres syndrome 4
  • p.Asn99= Single submitter Aicardi-Goutieres syndrome 4
  • p.Asp201= Single submitter Aicardi-Goutieres syndrome 4
  • p.Asp205= Single submitter Aicardi-Goutieres syndrome 4
  • p.Asp59= Single submitter Aicardi-Goutieres syndrome 4
  • p.Gln126= Single submitter Aicardi-Goutieres syndrome 4
  • p.Gln150= Single submitter Aicardi-Goutieres syndrome 4
  • p.Gln155= Single submitter Aicardi-Goutieres syndrome 4
  • p.Glu147= Single submitter Aicardi-Goutieres syndrome 4
  • p.Glu161= Single submitter Aicardi-Goutieres syndrome 4
  • p.Glu197= Single submitter Aicardi-Goutieres syndrome 4
  • p.Glu260= Single submitter Aicardi-Goutieres syndrome 4
  • p.Glu275= Single submitter Aicardi-Goutieres syndrome 4
  • p.Glu290= Single submitter Aicardi-Goutieres syndrome 4
  • p.Glu294= Single submitter Aicardi-Goutieres syndrome 4
  • p.Glu73= Single submitter Aicardi-Goutieres syndrome 4
  • p.Glu77= Single submitter Aicardi-Goutieres syndrome 4
  • p.Gly123= Single submitter Aicardi-Goutieres syndrome 4
  • p.Gly132= Single submitter Aicardi-Goutieres syndrome 4
  • p.Gly144= Single submitter Aicardi-Goutieres syndrome 4
  • p.Gly209= Single submitter Aicardi-Goutieres syndrome 4
  • p.Gly264= Single submitter Aicardi-Goutieres syndrome 4
  • p.Gly276= Single submitter Aicardi-Goutieres syndrome 4
  • p.Gly292= Single submitter Aicardi-Goutieres syndrome 4
  • p.His118= Single submitter Aicardi-Goutieres syndrome 4
  • p.His223= Single submitter Aicardi-Goutieres syndrome 4
  • p.Leu116= Single submitter Aicardi-Goutieres syndrome 4
  • p.Leu129= Single submitter Aicardi-Goutieres syndrome 4
  • p.Leu153= Single submitter Aicardi-Goutieres syndrome 4
  • p.Leu199= Single submitter Aicardi-Goutieres syndrome 4
  • p.Leu202= Single submitter Aicardi-Goutieres syndrome 4
  • p.Leu220= Single submitter Aicardi-Goutieres syndrome 4
  • p.Leu293= Single submitter Aicardi-Goutieres syndrome 4
  • p.Leu57= Single submitter Aicardi-Goutieres syndrome 4
  • p.Leu63= Single submitter Aicardi-Goutieres syndrome 4
  • p.Leu71= Single submitter Aicardi-Goutieres syndrome 4
  • p.Leu79= Single submitter Aicardi-Goutieres syndrome 4
  • p.Leu96= Single submitter Aicardi-Goutieres syndrome 4
  • p.Lys192= Single submitter Aicardi-Goutieres syndrome 4
  • p.Lys267= Single submitter Aicardi-Goutieres syndrome 4
  • p.Lys69= Single submitter Aicardi-Goutieres syndrome 4
  • p.Phe139= Single submitter Aicardi-Goutieres syndrome 4
  • p.Phe272= Single submitter Aicardi-Goutieres syndrome 4
  • p.Phe288= Single submitter Aicardi-Goutieres syndrome 4
  • p.Pro173= Single submitter Aicardi-Goutieres syndrome 4
  • p.Pro214= Single submitter Aicardi-Goutieres syndrome 4
  • p.Pro231= Single submitter Aicardi-Goutieres syndrome 4
  • p.Pro281= Single submitter Aicardi-Goutieres syndrome 4
  • p.Pro53= Single submitter Aicardi-Goutieres syndrome 4
  • p.Ser115= Single submitter Aicardi-Goutieres syndrome 4
  • p.Ser117= Single submitter Aicardi-Goutieres syndrome 4
  • p.Ser284= Single submitter Aicardi-Goutieres syndrome 4
  • p.Ser295= Single submitter Aicardi-Goutieres syndrome 4
  • p.Ser74= Single submitter Aicardi-Goutieres syndrome 4
  • p.Thr103= Single submitter Aicardi-Goutieres syndrome 4
  • p.Thr142= Single submitter Aicardi-Goutieres syndrome 4
  • p.Thr148= Single submitter Aicardi-Goutieres syndrome 4
  • p.Thr163= Single submitter Aicardi-Goutieres syndrome 4
  • p.Thr204= Single submitter Aicardi-Goutieres syndrome 4
  • p.Thr216= Single submitter Aicardi-Goutieres syndrome 4
  • p.Thr70= Single submitter Aicardi-Goutieres syndrome 4
  • p.Thr86= Single submitter Aicardi-Goutieres syndrome 4
  • p.Tyr111= Single submitter Aicardi-Goutieres syndrome 4
  • p.Tyr127= Single submitter Aicardi-Goutieres syndrome 4
  • p.Tyr149= Single submitter Aicardi-Goutieres syndrome 4
  • p.Tyr271= Single submitter Aicardi-Goutieres syndrome 4
  • p.Tyr47= Single submitter Aicardi-Goutieres syndrome 4
  • p.Tyr51= Single submitter Aicardi-Goutieres syndrome 4
  • p.Val135= Single submitter Aicardi-Goutieres syndrome 4
  • p.Val138= Single submitter Aicardi-Goutieres syndrome 4
  • p.Val174= Single submitter Aicardi-Goutieres syndrome 4
  • p.Val184= Single submitter Aicardi-Goutieres syndrome 4
  • p.Val234= Single submitter Aicardi-Goutieres syndrome 4
  • p.Val46= Single submitter Aicardi-Goutieres syndrome 4
  • p.Val89= Single submitter Aicardi-Goutieres syndrome 4

Uncertain significance 177