Total 88 pathogenic variants reported for Aicardi-Goutieres syndrome 6 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_001111.5(ADAR):c.1420C>T (p.Arg474Ter) SNV
Germline
Chr1:154601222 Pathogenic Symmetrical dyschromatosis of extremities
Symmetrical dyschromatosis of extremities
Aicardi-Goutieres syndrome 6
Criteria Provided
Single Submitter
CA124336 rs_121912421

2 SubmittersRCV000015940RCV003764577

NM_001111.5(ADAR):c.2608G>A (p.Ala870Thr) SNV
Germline
Chr1:154589817 Pathogenic/Likely pathogenic Aicardi-Goutieres syndrome 6 No Assertion Criteria Provided
CA343775 rs_398122893

2 SubmittersRCV000032651

NM_001111.5(ADAR):c.3337G>C (p.Asp1113His) SNV
Germline
Chr1:154585323 Pathogenic/Likely pathogenic Aicardi-Goutieres syndrome 6 No Assertion Criteria Provided
CA343777 rs_398122894

2 SubmittersRCV000032652

NM_001111.5(ADAR):c.3019G>A (p.Gly1007Arg) SNV
Germline
Chr1:154588125 Pathogenic/Likely pathogenic Aicardi-Goutieres syndrome 6
Symmetrical dyschromatosis of extremities
Symmetrical dyschromatosis of extremities
Aicardi-Goutieres syndrome 6
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA130316 rs_398122822

18 SubmittersRCV000032654RCV000032653RCV000762850RCV001091722

NM_001111.5(ADAR):c.3335A>T (p.Tyr1112Phe) SNV
Germline
Chr1:154585325 Pathogenic/Likely pathogenic Aicardi-Goutieres syndrome 6 No Assertion Criteria Provided
CA343779 rs_398122895

2 SubmittersRCV000032655

NM_001111.5(ADAR):c.2997G>T (p.Lys999Asn) SNV
Germline
Chr1:154588147 Pathogenic/Likely pathogenic Aicardi-Goutieres syndrome 6 No Assertion Criteria Provided
CA343781 rs_398122896

2 SubmittersRCV000032656

NM_001111.5(ADAR):c.2615T>C (p.Ile872Thr) SNV
Germline
Chr1:154589810 Pathogenic/Likely pathogenic Aicardi-Goutieres syndrome 6 No Assertion Criteria Provided
CA343783 rs_398122897

2 SubmittersRCV000032657

NM_001111.5(ADAR):c.577C>G (p.Pro193Ala) SNV
Germline
Chr1:154602065 Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 6
Condition: not provided
Symmetrical dyschromatosis of extremities
Symmetrical dyschromatosis of extremities
Aicardi-Goutieres syndrome 6
Inborn genetic diseases
Aicardi Goutieres syndrome
ADAR-related disorder
Criteria Provided
Conflicting Classifications
CA345491 rs_145588689

25 SubmittersRCV000114336RCV000255775RCV000288094RCV000548694RCV000624331RCV000352411RCV000778185

NM_001111.5(ADAR):c.1630C>T (p.Arg544Ter) SNV
Germline
Chr1:154598557 Pathogenic Aicardi-Goutieres syndrome 6 No Assertion Criteria Provided
CA10575636 rs_768943773

1 SubmittersRCV000114429

NM_001111.5(ADAR):c.3432C>G (p.Gly1144=) SNV
Germline
Chr1:154585228 Conflicting classifications of pathogenicity Symmetrical dyschromatosis of extremities
Symmetrical dyschromatosis of extremities
Aicardi-Goutieres syndrome 6
Criteria Provided
Conflicting Classifications
CA1130957 rs_568610646

2 SubmittersRCV000362671RCV000539038

NM_001111.5(ADAR):c.1577A>G (p.Gln526Arg) SNV
Germline
Chr1:154601065 Conflicting classifications of pathogenicity Symmetrical dyschromatosis of extremities
Symmetrical dyschromatosis of extremities
Aicardi-Goutieres syndrome 6
Criteria Provided
Conflicting Classifications
CA1131528 rs_770224427

2 SubmittersRCV000274608RCV001850489

NM_001111.5(ADAR):c.1910A>G (p.Lys637Arg) SNV
Germline
Chr1:154597852 Conflicting classifications of pathogenicity Symmetrical dyschromatosis of extremities
Aicardi-Goutieres syndrome 6
Symmetrical dyschromatosis of extremities
Inborn genetic diseases
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10607938 rs_886045341

4 SubmittersRCV000405145RCV002519396RCV003243052RCV001770230

NM_001111.5(ADAR):c.650G>A (p.Ser217Asn) SNV
Germline
Chr1:154601992 Conflicting classifications of pathogenicity Symmetrical dyschromatosis of extremities
Aicardi-Goutieres syndrome 6
Symmetrical dyschromatosis of extremities
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA1131661 rs_199906332

3 SubmittersRCV000382864RCV001206663RCV004021359

NM_001111.5(ADAR):c.3289C>A (p.His1097Asn) SNV
Germline
Chr1:154585779 Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 6
Symmetrical dyschromatosis of extremities
Inborn genetic diseases
Condition: not provided
Symmetrical dyschromatosis of extremities
Criteria Provided
Conflicting Classifications
CA1130999 rs_200537032

4 SubmittersRCV000817326RCV003165784RCV003137901RCV000270408

NM_001111.5(ADAR):c.3018C>T (p.Asn1006=) SNV
Germline
Chr1:154588126 Conflicting classifications of pathogenicity Symmetrical dyschromatosis of extremities
Symmetrical dyschromatosis of extremities
Aicardi-Goutieres syndrome 6
Condition: not provided
Criteria Provided
Conflicting Classifications
CA1131085 rs_151241634

6 SubmittersRCV000327541RCV000808772RCV001529504

NM_001111.5(ADAR):c.2668+6T>C SNV
Germline
Chr1:154589751 Conflicting classifications of pathogenicity Symmetrical dyschromatosis of extremities
Symmetrical dyschromatosis of extremities
Aicardi-Goutieres syndrome 6
Condition: not provided
Criteria Provided
Conflicting Classifications
CA1131201 rs_190881240

7 SubmittersRCV000286952RCV000650242RCV000859489

NM_001111.5(ADAR):c.1846G>A (p.Val616Ile) SNV
Germline
Chr1:154597916 Conflicting classifications of pathogenicity Symmetrical dyschromatosis of extremities
Symmetrical dyschromatosis of extremities
Aicardi-Goutieres syndrome 6
Condition: not provided
Criteria Provided
Conflicting Classifications
CA1131444 rs_570647049

4 SubmittersRCV000369271RCV000693693RCV003137902

NM_001111.5(ADAR):c.1113T>C (p.Ser371=) SNV
Germline
Chr1:154601529 Conflicting classifications of pathogenicity Symmetrical dyschromatosis of extremities
Symmetrical dyschromatosis of extremities
Aicardi-Goutieres syndrome 6
Criteria Provided
Conflicting Classifications
CA10608261 rs_780284489

2 SubmittersRCV000267426RCV003765702

NM_001111.5(ADAR):c.2762+10G>A SNV
Germline
Chr1:154589359 Conflicting classifications of pathogenicity Symmetrical dyschromatosis of extremities
Symmetrical dyschromatosis of extremities
Aicardi-Goutieres syndrome 6
Criteria Provided
Conflicting Classifications
CA10608300 rs_879809934

2 SubmittersRCV000264444RCV000933942

NM_001111.5(ADAR):c.2079+8G>A SNV
Germline
Chr1:154597115 Conflicting classifications of pathogenicity Symmetrical dyschromatosis of extremities
Condition: not provided
Symmetrical dyschromatosis of extremities
Aicardi-Goutieres syndrome 6
Criteria Provided
Conflicting Classifications
CA1131388 rs_376867928

4 SubmittersRCV000338497RCV000594198RCV001081832

NM_001111.5(ADAR):c.3201G>A (p.Leu1067=) SNV
Germline
Chr1:154586182 Conflicting classifications of pathogenicity not specified
Aicardi-Goutieres syndrome 6
Symmetrical dyschromatosis of extremities
Criteria Provided
Conflicting Classifications
CA1131035 rs_750105086

2 SubmittersRCV000441190RCV002525491

NM_001111.5(ADAR):c.3577G>A (p.Glu1193Lys) SNV
Germline
Chr1:154584910 Conflicting classifications of pathogenicity Condition: not provided
Aicardi-Goutieres syndrome 6
Symmetrical dyschromatosis of extremities
Criteria Provided
Conflicting Classifications
CA16616992 rs_1064796761

2 SubmittersRCV000486456RCV000805404

NM_001111.5(ADAR):c.3215G>T (p.Ser1072Ile) SNV
Germline
Chr1:154585853 Likely pathogenic Aicardi-Goutieres syndrome 6 Criteria Provided
Single Submitter
CA342635469 rs_1553207540

1 SubmittersRCV000578411

NM_001111.5(ADAR):c.518A>G (p.Asn173Ser) SNV
Germline
Chr1:154602124 Conflicting classifications of pathogenicity Symmetrical dyschromatosis of extremities
Aicardi-Goutieres syndrome 6
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_201331183

2 SubmittersRCV000945806RCV001759671

NM_001111.5(ADAR):c.3354C>T (p.Ser1118=) SNV
Germline
Chr1:154585306 Conflicting classifications of pathogenicity Condition: not provided
Aicardi-Goutieres syndrome 6
Symmetrical dyschromatosis of extremities
Criteria Provided
Conflicting Classifications
rs_764381126

2 SubmittersRCV000994111RCV003769328

NM_001111.5(ADAR):c.3081C>T (p.Leu1027=) SNV
Germline
Chr1:154586302 Conflicting classifications of pathogenicity Symmetrical dyschromatosis of extremities
Aicardi-Goutieres syndrome 6
Symmetrical dyschromatosis of extremities
Criteria Provided
Conflicting Classifications
rs_145851568

2 SubmittersRCV001099083RCV001486615

NM_001111.5(ADAR):c.2080C>T (p.Pro694Ser) SNV
Germline
Chr1:154596995 Conflicting classifications of pathogenicity Symmetrical dyschromatosis of extremities
Inborn genetic diseases
Symmetrical dyschromatosis of extremities
Aicardi-Goutieres syndrome 6
Criteria Provided
Conflicting Classifications
rs_755535385

3 SubmittersRCV001101160RCV002556039RCV001873493

NM_001111.5(ADAR):c.1392T>C (p.Asn464=) SNV
Germline
Chr1:154601250 Conflicting classifications of pathogenicity Symmetrical dyschromatosis of extremities
Symmetrical dyschromatosis of extremities
Aicardi-Goutieres syndrome 6
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_370763473

3 SubmittersRCV001097509RCV002067744RCV003222222

NM_001111.5(ADAR):c.1189T>A (p.Ser397Thr) SNV
Germline
Chr1:154601453 Conflicting classifications of pathogenicity Symmetrical dyschromatosis of extremities
Condition: not provided
Symmetrical dyschromatosis of extremities
Aicardi-Goutieres syndrome 6
Aicardi-Goutieres syndrome 6
Criteria Provided
Conflicting Classifications
rs_1190740301

4 SubmittersRCV001097511RCV003405302RCV001856317RCV003339486

NM_001111.5(ADAR):c.2763-7T>C SNV
Germline
Chr1:154588680 Conflicting classifications of pathogenicity Symmetrical dyschromatosis of extremities
Aicardi-Goutieres syndrome 6
Symmetrical dyschromatosis of extremities
Criteria Provided
Conflicting Classifications
rs_1696928206

2 SubmittersRCV001099084RCV003769062

NM_001111.5(ADAR):c.1785+5G>A SNV
Germline
Chr1:154598397 Conflicting classifications of pathogenicity Symmetrical dyschromatosis of extremities
Aicardi-Goutieres syndrome 6
Symmetrical dyschromatosis of extremities
Criteria Provided
Conflicting Classifications
rs_17843866

2 SubmittersRCV001097414RCV001340477

NM_001111.5(ADAR):c.1192A>G (p.Asn398Asp) SNV
Germline
Chr1:154601450 Conflicting classifications of pathogenicity Symmetrical dyschromatosis of extremities
Aicardi-Goutieres syndrome 6
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_371050239

2 SubmittersRCV001240890RCV003405438

NM_001111.5(ADAR):c.3286C>T (p.Arg1096Ter) SNV
Germline
Chr1:154585782 Pathogenic/Likely pathogenic Inborn genetic diseases
Symmetrical dyschromatosis of extremities
Aicardi-Goutieres syndrome 6
Condition: not provided
Aicardi-Goutieres syndrome 6
Criteria Provided
Multiple Submitters
No Conflicts
rs_769148365

6 SubmittersRCV001266911RCV003770392RCV001268344RCV001332834

NM_001111.5(ADAR):c.625G>A (p.Gly209Arg) SNV
Germline
Chr1:154602017 Conflicting classifications of pathogenicity Symmetrical dyschromatosis of extremities
Aicardi-Goutieres syndrome 6
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
rs_767095635

2 SubmittersRCV001318109RCV002543741

NM_001111.5(ADAR):c.2762+6C>T SNV
Germline
Chr1:154589363 Conflicting classifications of pathogenicity Condition: not provided
Symmetrical dyschromatosis of extremities
Aicardi-Goutieres syndrome 6
Criteria Provided
Conflicting Classifications
rs_371450928

2 SubmittersRCV002264277RCV001352042

NM_001111.5(ADAR):c.2344C>T (p.Gln782Ter) SNV
Germline
Chr1:154590336 Pathogenic Symmetrical dyschromatosis of extremities
Aicardi-Goutieres syndrome 6
Criteria Provided
Single Submitter
rs_2101588892

1 SubmittersRCV001386291

NM_001111.5(ADAR):c.1542C>T (p.Phe514=) SNV
Germline
Chr1:154601100 Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 6
Symmetrical dyschromatosis of extremities
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_757137562

2 SubmittersRCV001470148RCV003136085

NM_001111.5(ADAR):c.3202+1G>A SNV
Germline
Chr1:154586180 Pathogenic Aicardi-Goutieres syndrome 6 No Assertion Criteria Provided
rs_2101565765

1 SubmittersRCV001542547

NM_001111.5(ADAR):c.2763-2A>G SNV
Germline
Chr1:154588675 Likely pathogenic Aicardi-Goutieres syndrome 6 No Assertion Criteria Provided
rs_2101579172

1 SubmittersRCV001542548

NM_001111.5(ADAR):c.758G>A (p.Trp253Ter) SNV
Germline
Chr1:154601884 Likely pathogenic Aicardi-Goutieres syndrome 6 No Assertion Criteria Provided
rs_2101642015

1 SubmittersRCV001542549

NM_001111.5(ADAR):c.3463C>T (p.Arg1155Trp) SNV
Germline
Chr1:154585024 Conflicting classifications of pathogenicity Condition: not provided
Symmetrical dyschromatosis of extremities
Aicardi-Goutieres syndrome 6
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
rs_1044845711

3 SubmittersRCV001575407RCV001882686RCV002570803

NM_001111.5(ADAR):c.2886-12C>G SNV
Germline
Chr1:154588270 Conflicting classifications of pathogenicity Condition: not provided
Symmetrical dyschromatosis of extremities
Aicardi-Goutieres syndrome 6
Criteria Provided
Conflicting Classifications
rs_775018500

2 SubmittersRCV001799819RCV002074143

NM_001111.5(ADAR):c.3124C>T (p.Arg1042Cys) SNV
Germline
Chr1:154586259 Conflicting classifications of pathogenicity Condition: not provided
Symmetrical dyschromatosis of extremities
Aicardi-Goutieres syndrome 6
Criteria Provided
Conflicting Classifications
rs_779004315

2 SubmittersRCV001816063RCV001869637

NM_001111.5(ADAR):c.763C>T (p.Gln255Ter) SNV
Germline
Chr1:154601879 Pathogenic Aicardi-Goutieres syndrome 6
Symmetrical dyschromatosis of extremities
Criteria Provided
Single Submitter
rs_2101641985

1 SubmittersRCV002035306

NM_001111.5(ADAR):c.85C>T (p.Gln29Ter) SNV
Germline
Chr1:154602557 Pathogenic Symmetrical dyschromatosis of extremities
Aicardi-Goutieres syndrome 6
Criteria Provided
Single Submitter
rs_2101645916

1 SubmittersRCV001876698

NM_001111.5(ADAR):c.982C>T (p.Arg328Ter) SNV
Germline
Chr1:154601660 Pathogenic Symmetrical dyschromatosis of extremities
Aicardi-Goutieres syndrome 6
Criteria Provided
Single Submitter
rs_1322905273

1 SubmittersRCV001946795

NM_001111.5(ADAR):c.487G>A (p.Gly163Arg) SNV
Germline
Chr1:154602155 Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 6
Symmetrical dyschromatosis of extremities
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
rs_762094056

3 SubmittersRCV002023365RCV002548223

NM_001111.5(ADAR):c.1630C>A (p.Arg544=) SNV
Germline
Chr1:154598557 Conflicting classifications of pathogenicity Symmetrical dyschromatosis of extremities
Aicardi-Goutieres syndrome 6
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_768943773

2 SubmittersRCV001992268RCV003408062

NM_001111.5(ADAR):c.3040G>T (p.Glu1014Ter) SNV
Germline
Chr1:154586343 Pathogenic Symmetrical dyschromatosis of extremities
Aicardi-Goutieres syndrome 6
Criteria Provided
Single Submitter

1 SubmittersRCV002634310

NM_001111.5(ADAR):c.520C>T (p.Arg174Ter) SNV
Germline
Chr1:154602122 Pathogenic Symmetrical dyschromatosis of extremities
Aicardi-Goutieres syndrome 6
Criteria Provided
Single Submitter

1 SubmittersRCV002736111

NM_001111.5(ADAR):c.1602-2A>G SNV
Germline
Chr1:154598587 Likely pathogenic Aicardi-Goutieres syndrome 6
Symmetrical dyschromatosis of extremities
Criteria Provided
Single Submitter

1 SubmittersRCV002801227

NM_001111.5(ADAR):c.1786-1G>C SNV
Germline
Chr1:154597977 Likely pathogenic Symmetrical dyschromatosis of extremities
Aicardi-Goutieres syndrome 6
Criteria Provided
Single Submitter

1 SubmittersRCV002837610

NM_001111.5(ADAR):c.133G>T (p.Glu45Ter) SNV
Germline
Chr1:154602509 Pathogenic Symmetrical dyschromatosis of extremities
Aicardi-Goutieres syndrome 6
Criteria Provided
Single Submitter

1 SubmittersRCV002851424

NM_001111.5(ADAR):c.3402T>A (p.Tyr1134Ter) SNV
Germline
Chr1:154585258 Pathogenic Symmetrical dyschromatosis of extremities
Aicardi-Goutieres syndrome 6
Criteria Provided
Single Submitter

1 SubmittersRCV002857778

NM_001111.5(ADAR):c.214C>T (p.Arg72Trp) SNV
Germline
Chr1:154602428 Conflicting classifications of pathogenicity Symmetrical dyschromatosis of extremities
Aicardi-Goutieres syndrome 6
Inborn genetic diseases
Criteria Provided
Conflicting Classifications

2 SubmittersRCV002949062RCV004068083

NM_001111.5(ADAR):c.3125G>A (p.Arg1042His) SNV
Germline
Chr1:154586258 Pathogenic Symmetrical dyschromatosis of extremities
Aicardi-Goutieres syndrome 6
Criteria Provided
Single Submitter

1 SubmittersRCV003780949

NM_001111.5(ADAR):c.1472C>G (p.Ser491Ter) SNV
Germline
Chr1:154601170 Pathogenic Symmetrical dyschromatosis of extremities
Aicardi-Goutieres syndrome 6
Criteria Provided
Single Submitter

1 SubmittersRCV003780952

NM_001111.5(ADAR):c.3232C>T (p.Arg1078Cys) SNV
Germline
Chr1:154585836 Pathogenic Symmetrical dyschromatosis of extremities
Aicardi-Goutieres syndrome 6
Criteria Provided
Single Submitter

1 SubmittersRCV003780820

NM_001111.5(ADAR):c.391C>T (p.Gln131Ter) SNV
Germline
Chr1:154602251 Pathogenic Symmetrical dyschromatosis of extremities
Aicardi-Goutieres syndrome 6
Criteria Provided
Single Submitter

1 SubmittersRCV003807976

NM_001111.5(ADAR):c.1576C>T (p.Gln526Ter) SNV
Germline
Chr1:154601066 Pathogenic Symmetrical dyschromatosis of extremities
Aicardi-Goutieres syndrome 6
Criteria Provided
Single Submitter

1 SubmittersRCV003806595

NM_001111.5(ADAR):c.3233G>T (p.Arg1078Leu) SNV
Germline
Chr1:154585835 Pathogenic Symmetrical dyschromatosis of extremities
Aicardi-Goutieres syndrome 6
Criteria Provided
Single Submitter

1 SubmittersRCV003793722

NM_001111.5(ADAR):c.2763-1G>A SNV
Germline
Chr1:154588674 Likely pathogenic Symmetrical dyschromatosis of extremities
Aicardi-Goutieres syndrome 6
Criteria Provided
Single Submitter

1 SubmittersRCV003817922

NM_001111.5(ADAR):c.3364A>C (p.Lys1122Gln) SNV
Germline
Chr1:154585296 Likely pathogenic Aicardi-Goutieres syndrome 6 Criteria Provided
Single Submitter

1 SubmittersRCV003991104