Total 22 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

7 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
Autoinflammatory syndrome
Condition: not provided
STING1-related disorder
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA3435365 rs_201096097

8 SubmittersRCV000539383RCV002263800RCV001092019RCV003905453RCV004024307
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		 Criteria Provided
Conflicting Classifications
 CA3435506 rs_140011636

7 SubmittersRCV000762166RCV001080030RCV002263913RCV003905771RCV004025853
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
 rs_1561482476

5 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		 Criteria Provided
Conflicting Classifications
 rs_181566154

5 SubmittersRCV000762165RCV001050985RCV002263964RCV004027197
NM_198282.4(STING1):c.40A>C (p.Arg14=) SNV
Germline		 Chr5:139481665 Conflicting classifications of pathogenicity Autoinflammatory syndrome
Condition: not provided
STING-associated vasculopathy with onset in infancy		 Criteria Provided
Conflicting Classifications
 rs_761439213

4 SubmittersRCV002263977RCV000788566RCV002234177
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
 rs_141830680

4 SubmittersRCV000794675RCV002263983RCV003279069RCV004692260
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
 rs_750077345

4 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
 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
 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
 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
Inborn genetic diseases
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_370524913

3 SubmittersRCV001228481RCV004032635RCV003438725
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
 rs_759123296

2 SubmittersRCV001373663RCV004037582
NM_198282.4(STING1):c.457T>A (p.Phe153Ile) SNV
Germline		 Chr5:139480853 Pathogenic STING-associated vasculopathy with onset in infancy No Assertion Criteria Provided
 rs_2152094234

1 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
 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
 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
 rs_368419459

2 SubmittersRCV002236480RCV004673651
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

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

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

1 SubmittersRCV003842903