Total 55 pathogenic variants reported for Aicardi-Goutieres syndrome 4 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_006397.3(RNASEH2A):c.109G>A (p.Gly37Ser) SNV
Germline		 Chr19:12806782 Pathogenic Aicardi-Goutieres syndrome 4 No Assertion Criteria Provided
 CA340281 rs_76857106

2 SubmittersRCV000004904
NM_006397.3(RNASEH2A):c.75C>T (p.Arg25=) SNV
Germline		 Chr19:12806748 Pathogenic Aicardi-Goutieres syndrome 4 No Assertion Criteria Provided
 CA345291 rs_397515479

2 SubmittersRCV000056302
NM_006397.3(RNASEH2A):c.704G>A (p.Arg235Gln) SNV
Germline		 Chr19:12813149 Likely pathogenic Aicardi-Goutieres syndrome 4
Aicardi Goutieres syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA345294 rs_75718910

5 SubmittersRCV000056303RCV003155061
NM_006397.3(RNASEH2A):c.69G>A (p.Val23=) SNV
Germline		 Chr19:12806742 Pathogenic/Likely pathogenic Aicardi-Goutieres syndrome 4
Aicardi Goutieres syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA345297 rs_397515480

7 SubmittersRCV000056304RCV001731349RCV002307387
NM_006397.3(RNASEH2A):c.556C>T (p.Arg186Trp) SNV
Germline		 Chr19:12810323 Pathogenic/Likely pathogenic Aicardi-Goutieres syndrome 4
Aicardi Goutieres syndrome
RNASEH2A-related disorder
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA345300 rs_77103971

8 SubmittersRCV000056305RCV000610608RCV003894911RCV005414453
NM_006397.3(RNASEH2A):c.322C>T (p.Arg108Trp) SNV
Germline		 Chr19:12807328 Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 4
Aicardi Goutieres syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA345495 rs_76436818

6 SubmittersRCV000114338RCV004586551RCV004719695
NM_006397.3(RNASEH2A):c.762-13C>G SNV
Germline		 Chr19:12813315 Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 4 Criteria Provided
Conflicting Classifications
 CA10642331 rs_781591228

2 SubmittersRCV000323597
NM_006397.3(RNASEH2A):c.285G>A (p.Val95=) SNV
Germline		 Chr19:12807291 Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 4 Criteria Provided
Conflicting Classifications
 CA10651529 rs_374650162

2 SubmittersRCV000405088
NM_006397.3(RNASEH2A):c.637+8G>A SNV
Germline		 Chr19:12810412 Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 4 Criteria Provided
Conflicting Classifications
 CA10652253 rs_757139110

2 SubmittersRCV000272125
NM_006397.3(RNASEH2A):c.758T>C (p.Ile253Thr) SNV
Germline		 Chr19:12813203 Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 4 Criteria Provided
Conflicting Classifications
 CA9232024 rs_145662304

3 SubmittersRCV000967301
NM_006397.3(RNASEH2A):c.557G>A (p.Arg186Gln) SNV
Germline		 Chr19:12810324 Pathogenic/Likely pathogenic Condition: not provided
Aicardi-Goutieres syndrome 4
Inborn genetic diseases
Aicardi Goutieres syndrome
RNASEH2A-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA9231955 rs_753679297

14 SubmittersRCV000514532RCV000763423RCV002524980RCV005418184RCV004751576
NM_006397.3(RNASEH2A):c.36C>T (p.Gly12=) SNV
Germline		 Chr19:12806709 Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 4
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA9231712 rs_375139492

4 SubmittersRCV000639858RCV001726281
NM_006397.3(RNASEH2A):c.179T>C (p.Leu60Pro) SNV
Germline		 Chr19:12807059 Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 4 Criteria Provided
Conflicting Classifications
 CA9231764 rs_373301983

2 SubmittersRCV000687222
NM_006397.3(RNASEH2A):c.703C>T (p.Arg235Trp) SNV
Germline		 Chr19:12813148 Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 4
not specified		 Criteria Provided
Conflicting Classifications
 CA9232011 rs_773112247

3 SubmittersRCV000799844RCV004689890
NM_006397.3(RNASEH2A):c.328A>C (p.Lys110Gln) SNV
Germline		 Chr19:12807423 Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 4
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA9231856 rs_143029477

3 SubmittersRCV000888861RCV004659252
NM_006397.3(RNASEH2A):c.746C>T (p.Ala249Val) SNV
Germline		 Chr19:12813191 Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 4
Inborn genetic diseases
RNASEH2A-related disorder
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA9232019 rs_758719669

8 SubmittersRCV000990152RCV002549739RCV003411930RCV003987754RCV004726761
NM_006397.3(RNASEH2A):c.402C>T (p.Asn134=) SNV
Germline		 Chr19:12807497 Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 4
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA9231871 rs_778120777

4 SubmittersRCV001123840RCV001702766
NM_006397.3(RNASEH2A):c.516C>T (p.Tyr172=) SNV
Germline		 Chr19:12810175 Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 4 Criteria Provided
Conflicting Classifications
 CA505775983 rs_1415211346

2 SubmittersRCV001123841
NM_006397.3(RNASEH2A):c.199+8C>G SNV
Germline		 Chr19:12807087 Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 4 Criteria Provided
Conflicting Classifications
 CA9231774 rs_200834484

2 SubmittersRCV001123839
NM_006397.3(RNASEH2A):c.550-13G>A SNV
Germline		 Chr19:12810304 Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 4 Criteria Provided
Conflicting Classifications
 CA632120906 rs_560268310

2 SubmittersRCV001123842
NM_006397.3(RNASEH2A):c.320G>A (p.Gly107Glu) SNV
Germline		 Chr19:12807326 Likely pathogenic Aicardi-Goutieres syndrome 4 Criteria Provided
Single Submitter
 CA404265443 rs_2145824951

1 SubmittersRCV001375491
NM_006397.3(RNASEH2A):c.223G>T (p.Glu75Ter) SNV
Germline		 Chr19:12807229 Pathogenic Aicardi-Goutieres syndrome 4 Criteria Provided
Single Submitter
 CA404264727 rs_753695101

1 SubmittersRCV003613176
NM_006397.3(RNASEH2A):c.779A>G (p.Glu260Gly) SNV
Germline		 Chr19:12813345 Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 4
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA9232045 rs_770898096

2 SubmittersRCV001352056RCV005470788
NM_006397.3(RNASEH2A):c.323+1G>T SNV
Germline		 Chr19:12807330 Likely pathogenic Aicardi-Goutieres syndrome 4 Criteria Provided
Single Submitter
 CA404265459 rs_1388246689

1 SubmittersRCV001376995
NM_006397.3(RNASEH2A):c.657G>A (p.Trp219Ter) SNV
Germline		 Chr19:12813102 Pathogenic/Likely pathogenic Aicardi-Goutieres syndrome 4
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA404268842 rs_2145830181

2 SubmittersRCV003771738RCV001570653
NM_006397.3(RNASEH2A):c.323+1G>A SNV
Germline		 Chr19:12807330 Likely pathogenic Aicardi-Goutieres syndrome 4 Criteria Provided
Single Submitter
 CA404265457 rs_1388246689

1 SubmittersRCV001993698
NM_006397.3(RNASEH2A):c.638-2A>G SNV
Germline		 Chr19:12813081 Likely pathogenic Aicardi-Goutieres syndrome 4 Criteria Provided
Single Submitter
 CA404268673 rs_2145830162

1 SubmittersRCV001988479
NM_006397.3(RNASEH2A):c.857G>A (p.Arg286Gln) SNV
Germline		 Chr19:12813423 Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 4
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA9232064 rs_778842661

2 SubmittersRCV002210808RCV005473149
NM_006397.3(RNASEH2A):c.859T>C (p.Tyr287His) SNV
Germline		 Chr19:12813425 Pathogenic Aicardi-Goutieres syndrome 4 Criteria Provided
Single Submitter
 CA404269947 rs_1969104362

1 SubmittersRCV002468773
NM_006397.3(RNASEH2A):c.127+1G>C SNV
Germline		 Chr19:12806801 Likely pathogenic Aicardi-Goutieres syndrome 4 Criteria Provided
Single Submitter
 CA404263694 rs_1273822899

1 SubmittersRCV003050527
NM_006397.3(RNASEH2A):c.199+1G>C SNV
Germline		 Chr19:12807080 Likely pathogenic Aicardi-Goutieres syndrome 4 Criteria Provided
Multiple Submitters
No Conflicts
 CA404264433 rs_1289090477

2 SubmittersRCV002647976
NM_006397.3(RNASEH2A):c.1A>G (p.Met1Val) SNV
Germline		 Chr19:12806674 Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 4 Criteria Provided
Conflicting Classifications
 CA9231704 rs_765818462

2 SubmittersRCV002613871
NM_006397.3(RNASEH2A):c.447C>A (p.Tyr149Ter) SNV
Germline		 Chr19:12810106 Pathogenic Aicardi-Goutieres syndrome 4 Criteria Provided
Single Submitter
 CA9231903 rs_762503607

1 SubmittersRCV003043333
NM_006397.3(RNASEH2A):c.549+1G>T SNV
Germline		 Chr19:12810209 Likely pathogenic Aicardi-Goutieres syndrome 4 Criteria Provided
Single Submitter
 CA404267237 rs_1969053208

1 SubmittersRCV003222590
NM_006397.3(RNASEH2A):c.200-1G>T SNV
Germline		 Chr19:12807205 Likely pathogenic Aicardi-Goutieres syndrome 4 Criteria Provided
Single Submitter
 CA404264545 rs_2512890062

1 SubmittersRCV003504155
NM_006397.3(RNASEH2A):c.549+1G>A SNV
Germline		 Chr19:12810209 Likely pathogenic Aicardi-Goutieres syndrome 4 Criteria Provided
Single Submitter
 CA404267230 rs_1969053208

1 SubmittersRCV003503960
NM_006397.3(RNASEH2A):c.13G>T (p.Glu5Ter) SNV
Germline		 Chr19:12806686 Pathogenic Aicardi-Goutieres syndrome 4 Criteria Provided
Single Submitter
 CA305492095 rs_867179008

1 SubmittersRCV003611810
NM_006397.3(RNASEH2A):c.87C>A (p.Cys29Ter) SNV
Germline		 Chr19:12806760 Pathogenic Aicardi-Goutieres syndrome 4 Criteria Provided
Single Submitter
 CA404263397 rs_2512889135

1 SubmittersRCV003611253
NM_006397.3(RNASEH2A):c.704G>C (p.Arg235Pro) SNV
Germline		 Chr19:12813149 Likely pathogenic Aicardi-Goutieres syndrome 4 Criteria Provided
Single Submitter
 CA404269192 rs_75718910

1 SubmittersRCV003993543
NM_006397.3(RNASEH2A):c.543T>A (p.Cys181Ter) SNV
Germline		 Chr19:12810202 Likely pathogenic Aicardi-Goutieres syndrome 4 Criteria Provided
Single Submitter

1 SubmittersRCV005026370
NM_006397.3(RNASEH2A):c.762-2A>G SNV
Germline		 Chr19:12813326 Likely pathogenic Aicardi-Goutieres syndrome 4 Criteria Provided
Single Submitter

1 SubmittersRCV005026372
NM_006397.3(RNASEH2A):c.447C>G (p.Tyr149Ter) SNV
Germline		 Chr19:12810106 Pathogenic Aicardi-Goutieres syndrome 4 Criteria Provided
Single Submitter

1 SubmittersRCV005152827
NM_006397.3(RNASEH2A):c.577T>C (p.Trp193Arg) SNV
Germline		 Chr19:12810344 Likely pathogenic Aicardi-Goutieres syndrome 4 Criteria Provided
Single Submitter

1 SubmittersRCV005245571