Total 32 pathogenic variants reported for STING-associated vasculopathy with onset in infancy 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_198282.4(STING1):c.461A>G (p.Asn154Ser) SNV
Germline		 Chr5:139480849 Pathogenic STING-associated vasculopathy with onset in infancy Criteria Provided
Single Submitter
 CA170516 rs_587777609

3 SubmittersRCV000133400
NM_198282.4(STING1):c.463G>A (p.Val155Met) SNV
Germline		 Chr5:139480847 Pathogenic STING-associated vasculopathy with onset in infancy
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA170517 rs_587777610

9 SubmittersRCV000133401RCV000481634
NM_198282.4(STING1):c.439G>C (p.Val147Leu) SNV
Germline		 Chr5:139480871 Pathogenic STING-associated vasculopathy with onset in infancy No Assertion Criteria Provided
 CA170518 rs_587777611

1 SubmittersRCV000133402
NM_198282.4(STING1):c.575G>T (p.Gly192Val) SNV
Germline		 Chr5:139478454 Conflicting classifications of pathogenicity STING-associated vasculopathy with onset in infancy
Condition: not provided
Autoinflammatory syndrome
STING1-related disorder
Inborn genetic diseases
not specified		 Criteria Provided
Conflicting Classifications
 CA3435365 rs_201096097

9 SubmittersRCV000539383RCV001092019RCV002263800RCV003905453RCV004024307RCV006690723
NM_198282.4(STING1):c.376C>A (p.Leu126Ile) SNV
Germline		 Chr5:139481194 Conflicting classifications of pathogenicity STING-associated vasculopathy with onset in infancy
Autoinflammatory syndrome
Condition: not provided
STING1-related disorder
Inborn genetic diseases
not specified		 Criteria Provided
Conflicting Classifications
 CA3435433 rs_142609349

7 SubmittersRCV000540617RCV002263799RCV003437278RCV003915631RCV005742068RCV006448295
NM_198282.4(STING1):c.61G>A (p.Ala21Thr) SNV
Germline		 Chr5:139481644 Conflicting classifications of pathogenicity Condition: not provided
STING-associated vasculopathy with onset in infancy
Autoinflammatory syndrome
STING1-related disorder
Inborn genetic diseases
not specified		 Criteria Provided
Conflicting Classifications
 CA3435506 rs_140011636

8 SubmittersRCV000762166RCV001080030RCV002263913RCV003905771RCV004025853RCV006692488
NM_198282.4(STING1):c.929G>A (p.Arg310His) SNV
Germline		 Chr5:139477346 Conflicting classifications of pathogenicity STING-associated vasculopathy with onset in infancy
not specified
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA3435289 rs_144683867

3 SubmittersRCV000652341RCV005240393RCV005742086
NM_198282.4(STING1):c.842G>A (p.Arg281Gln) SNV
Germline		 Chr5:139477433 Pathogenic/Likely pathogenic STING-associated vasculopathy with onset in infancy
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA361479624 rs_1561482476

6 SubmittersRCV000689142RCV001198467
NM_198282.4(STING1):c.289G>A (p.Ala97Thr) SNV
Germline		 Chr5:139481281 Conflicting classifications of pathogenicity Condition: not provided
STING-associated vasculopathy with onset in infancy
Autoinflammatory syndrome
Inborn genetic diseases
not specified		 Criteria Provided
Conflicting Classifications
 CA3435450 rs_181566154

6 SubmittersRCV000762165RCV001050985RCV002263964RCV004027197RCV006692674
NM_198282.4(STING1):c.40A>C (p.Arg14=) SNV
Germline		 Chr5:139481665 Conflicting classifications of pathogenicity Condition: not provided
Autoinflammatory syndrome
STING-associated vasculopathy with onset in infancy		 Criteria Provided
Conflicting Classifications
 CA3435512 rs_761439213

4 SubmittersRCV000788566RCV002263977RCV002234177
NM_198282.4(STING1):c.1076A>G (p.Gln359Arg) SNV
Germline		 Chr5:139476325 Conflicting classifications of pathogenicity STING-associated vasculopathy with onset in infancy
Autoinflammatory syndrome
Inborn genetic diseases
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3435237 rs_141830680

4 SubmittersRCV000794675RCV002263983RCV003279069RCV004692260
NM_198282.4(STING1):c.281G>A (p.Arg94His) SNV
Germline		 Chr5:139481289 Conflicting classifications of pathogenicity STING-associated vasculopathy with onset in infancy
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA3435454 rs_780666926

2 SubmittersRCV000818932RCV006387012
NM_198282.4(STING1):c.380C>T (p.Ser127Leu) SNV
Germline		 Chr5:139481190 Conflicting classifications of pathogenicity STING-associated vasculopathy with onset in infancy
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA3435431 rs_149528532

2 SubmittersRCV000923242RCV005742135
NM_198282.4(STING1):c.841C>T (p.Arg281Trp) SNV
Germline		 Chr5:139477434 Conflicting classifications of pathogenicity STING-associated vasculopathy with onset in infancy
Condition: not provided
Autoinflammatory syndrome		 Criteria Provided
Conflicting Classifications
 CA3435299 rs_750077345

5 SubmittersRCV001041670RCV001593208RCV002264151
NM_198282.4(STING1):c.344C>T (p.Pro115Leu) SNV
Germline		 Chr5:139481226 Conflicting classifications of pathogenicity STING-associated vasculopathy with onset in infancy
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA3435438 rs_769494344

3 SubmittersRCV001041621RCV004031257
NM_198282.4(STING1):c.760-3T>C SNV
Germline		 Chr5:139477518 Conflicting classifications of pathogenicity Condition: not provided
STING-associated vasculopathy with onset in infancy		 Criteria Provided
Conflicting Classifications
 CA3435314 rs_759930084

2 SubmittersRCV001092018RCV002240732
NM_198282.4(STING1):c.758G>A (p.Arg253Gln) SNV
Germline		 Chr5:139478271 Conflicting classifications of pathogenicity STING-associated vasculopathy with onset in infancy
Autoinflammatory syndrome
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA3435331 rs_148833313

3 SubmittersRCV001223358RCV002264233RCV004032473
NM_198282.4(STING1):c.992G>A (p.Arg331Gln) SNV
Germline		 Chr5:139476409 Conflicting classifications of pathogenicity STING-associated vasculopathy with onset in infancy
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA3435254 rs_370524913

3 SubmittersRCV001228481RCV003438725RCV004032635
NM_198282.4(STING1):c.539G>A (p.Arg180Gln) SNV
Germline		 Chr5:139478490 Conflicting classifications of pathogenicity STING-associated vasculopathy with onset in infancy
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA361480326 rs_759123296

2 SubmittersRCV001373663RCV004037582
NM_198282.4(STING1):c.457T>A (p.Phe153Ile) SNV
Germline		 Chr5:139480853 Likely pathogenic STING-associated vasculopathy with onset in infancy Criteria Provided
Single Submitter
 CA361481047 rs_2152094234

2 SubmittersRCV001730166
NM_198282.4(STING1):c.1124G>A (p.Arg375His) SNV
Germline		 Chr5:139476277 Conflicting classifications of pathogenicity STING-associated vasculopathy with onset in infancy
Autoinflammatory syndrome
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA3435228 rs_117897081

3 SubmittersRCV002237384RCV002264481RCV004673650
NM_198282.4(STING1):c.946+6G>T SNV
Germline		 Chr5:139477323 Conflicting classifications of pathogenicity STING-associated vasculopathy with onset in infancy
Autoinflammatory syndrome		 Criteria Provided
Conflicting Classifications
 CA3435285 rs_768799195

2 SubmittersRCV002237390RCV002264482
NM_198282.4(STING1):c.763G>A (p.Gly255Ser) SNV
Germline		 Chr5:139477512 Conflicting classifications of pathogenicity STING-associated vasculopathy with onset in infancy
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA3435309 rs_368419459

2 SubmittersRCV002236480RCV004673651
NM_198282.4(STING1):c.430A>G (p.Ile144Val) SNV
Germline		 Chr5:139480880 Conflicting classifications of pathogenicity STING-associated vasculopathy with onset in infancy
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA3435406 rs_755245286

2 SubmittersRCV002237404RCV006396950
NM_198282.4(STING1):c.184G>A (p.Gly62Arg) SNV
Germline		 Chr5:139481521 Conflicting classifications of pathogenicity STING-associated vasculopathy with onset in infancy
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA3435489 rs_766819764

2 SubmittersRCV002236487RCV005742430
NM_198282.4(STING1):c.128C>T (p.Thr43Ile) SNV
Germline		 Chr5:139481577 Conflicting classifications of pathogenicity STING-associated vasculopathy with onset in infancy
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA361481798 rs_780099523

2 SubmittersRCV003084648RCV005483330
NM_198282.4(STING1):c.851G>C (p.Arg284Thr) SNV
Germline		 Chr5:139477424 Pathogenic STING-associated vasculopathy with onset in infancy Criteria Provided
Single Submitter
 CA361479602 rs_2547062066

1 SubmittersRCV002847646
NM_198282.4(STING1):c.614A>G (p.Asp205Gly) SNV
Germline		 Chr5:139478415 Likely pathogenic STING-associated vasculopathy with onset in infancy Criteria Provided
Single Submitter
 CA361480172 rs_2547063045

1 SubmittersRCV003335870
NM_198282.4(STING1):c.616T>G (p.Cys206Gly) SNV
Germline		 Chr5:139478413 Likely pathogenic STING-associated vasculopathy with onset in infancy Criteria Provided
Single Submitter
 CA361480166 rs_2547063044

1 SubmittersRCV003842903
NM_198282.4(STING1):c.852G>C (p.Arg284Ser) SNV
Germline		 Chr5:139477423 Pathogenic Condition: not provided
STING-associated vasculopathy with onset in infancy		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004798230RCV005105134
NM_198282.4(STING1):c.473G>T (p.Gly158Val) SNV
Germline		 Chr5:139480837 Likely pathogenic STING-associated vasculopathy with onset in infancy Criteria Provided
Single Submitter

1 SubmittersRCV006258188
NM_198282.4(STING1):c.956A>G (p.Asp319Gly) SNV
Germline		 Chr5:139476445 Likely pathogenic STING-associated vasculopathy with onset in infancy Criteria Provided
Single Submitter

1 SubmittersRCV006696588