Total 86 pathogenic variants reported for Vasculitis 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_001282225.2(ADA2):c.1358A>G (p.Tyr453Cys) SNV
Germline		 Chr22:17181904 Pathogenic/Likely pathogenic Vasculitis due to ADA2 deficiency
Autoinflammatory syndrome
Sneddon syndrome
Vasculitis due to ADA2 deficiency		 Criteria Provided
Multiple Submitters
No Conflicts
 CA150799 rs_376785840

5 SubmittersRCV000106380RCV002262702RCV002477260
NM_001282225.2(ADA2):c.326C>A (p.Ala109Asp) SNV
Germline		 Chr22:17207287 Pathogenic Vasculitis due to ADA2 deficiency No Assertion Criteria Provided
 CA150801 rs_587777240

1 SubmittersRCV000106381
NM_001282225.2(ADA2):c.140G>C (p.Gly47Ala) SNV
Germline		 Chr22:17209538 Pathogenic Vasculitis due to ADA2 deficiency
Condition: not provided
Sneddon syndrome
Vasculitis due to ADA2 deficiency
ADA2-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA150803 rs_200930463

9 SubmittersRCV000106382RCV001570811RCV002483175RCV004751262
NM_001282225.2(ADA2):c.336C>G (p.His112Gln) SNV
Germline		 Chr22:17207277 Pathogenic/Likely pathogenic Vasculitis due to ADA2 deficiency
Condition: not provided
Autoinflammatory syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA150806 rs_587777241

6 SubmittersRCV000106383RCV000722137RCV002262703
NM_001282225.2(ADA2):c.506G>A (p.Arg169Gln) SNV
Germline		 Chr22:17207107 Pathogenic/Likely pathogenic Vasculitis due to ADA2 deficiency
Inherited Immunodeficiency Diseases
Sneddon syndrome
Vasculitis due to ADA2 deficiency
Condition: not provided
Sneddon syndrome
Autoinflammatory syndrome
ADA2-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA150808 rs_77563738

23 SubmittersRCV000106384RCV001027542RCV001536077RCV001091904RCV001808328RCV002262704RCV003945041
NM_001282225.2(ADA2):c.139G>A (p.Gly47Arg) SNV
Germline		 Chr22:17209539 Conflicting classifications of pathogenicity Condition: not provided
Autoinflammatory syndrome
Sneddon syndrome
Vasculitis due to ADA2 deficiency
Sneddon syndrome
Vasculitis due to ADA2 deficiency		 Criteria Provided
Conflicting Classifications
 CA150810 rs_202134424

14 SubmittersRCV001091906RCV002262705RCV002498474RCV003445509RCV000106385
NM_001282225.2(ADA2):c.752C>T (p.Pro251Leu) SNV
Germline		 Chr22:17203564 Pathogenic Vasculitis due to ADA2 deficiency
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA150812 rs_148936893

9 SubmittersRCV000106386RCV001781437
NM_001282225.2(ADA2):c.140G>T (p.Gly47Val) SNV
Germline		 Chr22:17209538 Pathogenic/Likely pathogenic Vasculitis due to ADA2 deficiency
Condition: not provided
Sneddon syndrome
Vasculitis due to ADA2 deficiency		 Criteria Provided
Multiple Submitters
No Conflicts
 CA150814 rs_200930463

12 SubmittersRCV000106387RCV000481270RCV002505023
NM_001282225.2(ADA2):c.791G>C (p.Trp264Ser) SNV
Germline		 Chr22:17191773 Pathogenic Vasculitis due to ADA2 deficiency No Assertion Criteria Provided
 CA150816 rs_587777242

1 SubmittersRCV000106388
NM_001282225.2(ADA2):c.1078A>G (p.Thr360Ala) SNV
Germline		 Chr22:17188342 Pathogenic Sneddon syndrome
Vasculitis due to ADA2 deficiency
See cases		 Criteria Provided
Multiple Submitters
No Conflicts
 CA199242 rs_775440641

4 SubmittersRCV000169758RCV000851530RCV004584361
NM_001282225.2(ADA2):c.1147G>A (p.Gly383Ser) SNV
Germline		 Chr22:17182696 Pathogenic/Likely pathogenic Sneddon syndrome
Condition: not provided
Sneddon syndrome
Vasculitis due to ADA2 deficiency
Vasculitis due to ADA2 deficiency		 Criteria Provided
Multiple Submitters
No Conflicts
 CA199245 rs_770689762

4 SubmittersRCV000169759RCV002460949RCV002485053RCV001386673
NM_001282225.2(ADA2):c.927G>A (p.Met309Ile) SNV
Germline		 Chr22:17189987 Conflicting classifications of pathogenicity Behcet disease
Vasculitis due to ADA2 deficiency
Condition: not provided
Autoinflammatory syndrome
not specified
ADA2-related disorder		 Criteria Provided
Conflicting Classifications
 CA10088046 rs_146597836

10 SubmittersRCV000416296RCV001083464RCV000788291RCV002263671RCV003151053RCV003970099
NM_001282225.2(ADA2):c.1072G>A (p.Gly358Arg) SNV
Germline		 Chr22:17188348 Pathogenic ADA2-related disorder
Condition: not provided
Vasculitis due to ADA2 deficiency		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10087985 rs_45511697

4 SubmittersRCV003419802RCV000484766RCV001067680
NM_001282225.2(ADA2):c.1386T>C (p.Ile462=) SNV
Germline		 Chr22:17181876 Conflicting classifications of pathogenicity Vasculitis due to ADA2 deficiency
ADA2-related disorder
Autoinflammatory syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10087882 rs_373797039

4 SubmittersRCV000532561RCV003952860RCV002263798RCV003431109
NM_001282225.2(ADA2):c.139G>T (p.Gly47Trp) SNV
Germline		 Chr22:17209539 Pathogenic Vasculitis due to ADA2 deficiency
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10088318 rs_202134424

5 SubmittersRCV000652053RCV001555751
NM_001282225.2(ADA2):c.973-2A>G SNV
Germline		 Chr22:17188449 Pathogenic Vasculitis due to ADA2 deficiency
Condition: not provided
Sneddon syndrome
Sneddon syndrome
Vasculitis due to ADA2 deficiency
ADA2-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10088011 rs_139750129

14 SubmittersRCV000652057RCV001091903RCV003225732RCV002499121RCV003411545
NM_001282225.2(ADA2):c.1069G>A (p.Ala357Thr) SNV
Germline		 Chr22:17188351 Conflicting classifications of pathogenicity Vasculitis due to ADA2 deficiency
Vasculitis due to ADA2 deficiency
Sneddon syndrome
ADA2-related disorder		 Criteria Provided
Conflicting Classifications
 rs_374974565

3 SubmittersRCV000706480RCV002485772RCV003420264
NM_001282225.2(ADA2):c.1467G>C (p.Glu489Asp) SNV
Germline		 Chr22:17181552 Conflicting classifications of pathogenicity Vasculitis due to ADA2 deficiency
Autoinflammatory syndrome
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_61738625

4 SubmittersRCV000689639RCV002263932RCV003151136RCV003432734
NM_001282225.2(ADA2):c.194C>T (p.Thr65Met) SNV
Germline		 Chr22:17209484 Conflicting classifications of pathogenicity Vasculitis due to ADA2 deficiency
Sneddon syndrome
Vasculitis due to ADA2 deficiency
Autoinflammatory syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_61747288

4 SubmittersRCV000707211RCV000765603RCV002263952RCV002263951
NM_001282225.2(ADA2):c.1367A>G (p.Tyr456Cys) SNV
Germline		 Chr22:17181895 Likely pathogenic Vasculitis due to ADA2 deficiency Criteria Provided
Single Submitter
 rs_747774101

1 SubmittersRCV001218334
NM_001282225.2(ADA2):c.1196G>A (p.Trp399Ter) SNV
Germline		 Chr22:17182647 Pathogenic Vasculitis due to ADA2 deficiency Criteria Provided
Single Submitter
 rs_1568966771

1 SubmittersRCV003768300
NM_001282225.2(ADA2):c.147G>A (p.Arg49=) SNV
Germline		 Chr22:17209531 Conflicting classifications of pathogenicity Autoinflammatory syndrome
Vasculitis due to ADA2 deficiency
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_146125672

3 SubmittersRCV002264119RCV000973818RCV003311928
NM_001282225.2(ADA2):c.687C>T (p.Phe229=) SNV
Germline		 Chr22:17203629 Conflicting classifications of pathogenicity Vasculitis due to ADA2 deficiency
Autoinflammatory syndrome		 Criteria Provided
Conflicting Classifications
 rs_2231488

2 SubmittersRCV000908533RCV002264082
NM_001282225.2(ADA2):c.1110C>A (p.Asn370Lys) SNV
Germline		 Chr22:17182733 Pathogenic/Likely pathogenic Inherited Immunodeficiency Diseases
Vasculitis due to ADA2 deficiency
Sneddon syndrome
Vasculitis due to ADA2 deficiency
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1489114116

6 SubmittersRCV001027541RCV001328776RCV002497346RCV003325532
NM_001282225.2(ADA2):c.1085G>A (p.Trp362Ter) SNV
Germline		 Chr22:17182758 Pathogenic Vasculitis due to ADA2 deficiency Criteria Provided
Single Submitter
 rs_755007390

1 SubmittersRCV001069829
NM_001282225.2(ADA2):c.1065C>A (p.Phe355Leu) SNV
Germline		 Chr22:17188355 Conflicting classifications of pathogenicity Vasculitis due to ADA2 deficiency
Autoinflammatory syndrome		 Criteria Provided
Conflicting Classifications
 rs_116020027

3 SubmittersRCV001065569RCV002264174
NM_001282225.2(ADA2):c.934C>T (p.Arg312Ter) SNV
Germline		 Chr22:17189980 Pathogenic Vasculitis due to ADA2 deficiency
Vasculitis due to ADA2 deficiency
Sneddon syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_368615054

2 SubmittersRCV001057009RCV002482017
NM_001282225.2(ADA2):c.754-2A>G SNV
Germline		 Chr22:17191812 Likely pathogenic Vasculitis due to ADA2 deficiency Criteria Provided
Multiple Submitters
No Conflicts
 rs_2062118599

2 SubmittersRCV001218383
NM_001282225.2(ADA2):c.505C>T (p.Arg169Trp) SNV
Germline		 Chr22:17207108 Pathogenic Vasculitis due to ADA2 deficiency Criteria Provided
Single Submitter
 rs_775997344

1 SubmittersRCV001229165
NM_001282225.2(ADA2):c.559A>C (p.Thr187Pro) SNV
Germline		 Chr22:17203757 Likely pathogenic Vasculitis due to ADA2 deficiency No Assertion Criteria Provided
 rs_752890414

1 SubmittersRCV001267735
NM_013254.4(TBK1):c.1318C>T (p.Arg440Ter) SNV
Germline		 Chr12:64485995 Pathogenic Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
Autoinflammation with arthritis and vasculitis		 No Assertion Criteria Provided
 rs_769588220

2 SubmittersRCV001291944RCV004601430
NM_001282225.2(ADA2):c.1373T>A (p.Val458Asp) SNV
Germline		 Chr22:17181889 Pathogenic/Likely pathogenic Sneddon syndrome
Vasculitis due to ADA2 deficiency		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_748893301

2 SubmittersRCV001328777RCV003583195
NM_001282225.2(ADA2):c.882-2A>G SNV
Germline		 Chr22:17190034 Pathogenic Vasculitis due to ADA2 deficiency Criteria Provided
Multiple Submitters
No Conflicts
 rs_2062095528

3 SubmittersRCV001328779
NM_001282225.2(ADA2):c.1071C>A (p.Ala357=) SNV
Germline		 Chr22:17188349 Conflicting classifications of pathogenicity Vasculitis due to ADA2 deficiency
Sneddon syndrome
Vasculitis due to ADA2 deficiency		 Criteria Provided
Conflicting Classifications
 rs_144447953

2 SubmittersRCV001337504RCV002493735
NM_001282225.2(ADA2):c.139G>C (p.Gly47Arg) SNV
Germline		 Chr22:17209539 Pathogenic Vasculitis due to ADA2 deficiency
Vasculitis due to ADA2 deficiency
Sneddon syndrome
Autoinflammatory syndrome
Condition: not provided
ADA2-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_202134424

8 SubmittersRCV001390131RCV001535952RCV002264292RCV003334041RCV003399212
NM_001282225.2(ADA2):c.46C>T (p.Leu16=) SNV
Germline		 Chr22:17209632 Conflicting classifications of pathogenicity Vasculitis due to ADA2 deficiency
Autoinflammatory syndrome		 Criteria Provided
Conflicting Classifications
 rs_367610393

2 SubmittersRCV001393996RCV002264293
NM_001282225.2(ADA2):c.2T>A (p.Met1Lys) SNV
Germline		 Chr22:17209676 Pathogenic Vasculitis due to ADA2 deficiency Criteria Provided
Single Submitter
 rs_745795188

1 SubmittersRCV001706872
NM_001282225.2(ADA2):c.1081+1G>T SNV
Germline		 Chr22:17188338 Likely pathogenic Vasculitis due to ADA2 deficiency
ADA2-related disorder		 Criteria Provided
Single Submitter
 rs_1300843648

2 SubmittersRCV002005471RCV004731219
NM_001282225.2(ADA2):c.2T>C (p.Met1Thr) SNV
Germline		 Chr22:17209676 Pathogenic Vasculitis due to ADA2 deficiency
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_745795188

2 SubmittersRCV001937728RCV004591629
NM_001282225.2(ADA2):c.881+1G>A SNV
Germline		 Chr22:17191682 Pathogenic Vasculitis due to ADA2 deficiency Criteria Provided
Single Submitter
 rs_2123651193

1 SubmittersRCV001980451
NM_001282225.2(ADA2):c.334C>T (p.His112Tyr) SNV
Germline		 Chr22:17207279 Likely pathogenic Vasculitis due to ADA2 deficiency Criteria Provided
Single Submitter
 rs_773226219

1 SubmittersRCV001969417
NM_001282225.2(ADA2):c.753G>A (p.Pro251=) SNV
Germline		 Chr22:17203563 Pathogenic/Likely pathogenic Vasculitis due to ADA2 deficiency
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_369924229

2 SubmittersRCV001896413RCV004822953
NM_001282225.2(ADA2):c.369G>T (p.Trp123Cys) SNV
Germline		 Chr22:17207244 Likely pathogenic Vasculitis due to ADA2 deficiency Criteria Provided
Single Submitter
 rs_772909795

1 SubmittersRCV001986460
NM_001282225.2(ADA2):c.548T>C (p.Leu183Pro) SNV
Germline		 Chr22:17203768 Likely pathogenic Vasculitis due to ADA2 deficiency No Assertion Criteria Provided

1 SubmittersRCV002468948
NM_001282225.2(ADA2):c.1240-6G>A SNV
Germline		 Chr22:17182028 Conflicting classifications of pathogenicity Autoinflammatory syndrome
Vasculitis due to ADA2 deficiency		 Criteria Provided
Conflicting Classifications
 rs_781688965

2 SubmittersRCV002264601RCV003101477
NM_001282225.2(ADA2):c.562C>G (p.Leu188Val) SNV
Germline		 Chr22:17203754 Conflicting classifications of pathogenicity Autoinflammatory syndrome
Sneddon syndrome
Vasculitis due to ADA2 deficiency
Vasculitis due to ADA2 deficiency		 Criteria Provided
Conflicting Classifications
 rs_765219776

4 SubmittersRCV002264608RCV002496197RCV003746610
NM_001282225.2(ADA2):c.962G>A (p.Gly321Glu) SNV
Germline		 Chr22:17189952 Conflicting classifications of pathogenicity Autoinflammatory syndrome
Vasculitis due to ADA2 deficiency		 Criteria Provided
Conflicting Classifications
 rs_865858930

2 SubmittersRCV002264610RCV003746611
NM_001282225.2(ADA2):c.984G>C (p.Glu328Asp) SNV
Germline		 Chr22:17188436 Likely pathogenic Vasculitis due to ADA2 deficiency Criteria Provided
Single Submitter

1 SubmittersRCV003041402
NM_001282225.2(ADA2):c.660C>G (p.Tyr220Ter) SNV
Germline		 Chr22:17203656 Pathogenic Vasculitis due to ADA2 deficiency Criteria Provided
Single Submitter

1 SubmittersRCV003111981
NM_002350.4(LYN):c.1519C>T (p.Gln507Ter) SNV
Germline		 Chr8:56010090 Pathogenic LYN kinase associated vasculopathy and liver fibrosis syndrome
Autoinflammatory disease, systemic, with vasculitis		 No Assertion Criteria Provided

2 SubmittersRCV002512493RCV003228812
NM_002350.4(LYN):c.1523A>T (p.Tyr508Phe) SNV
Germline		 Chr8:56010094 Pathogenic LYN kinase associated vasculopathy and liver fibrosis syndrome
Autoinflammatory disease, systemic, with vasculitis		 No Assertion Criteria Provided

2 SubmittersRCV002512494RCV003228884
NM_002350.4(LYN):c.1524C>G (p.Tyr508Ter) SNV
Germline		 Chr8:56010095 Pathogenic LYN kinase associated vasculopathy and liver fibrosis syndrome
Autoinflammatory disease, systemic, with vasculitis		 No Assertion Criteria Provided

2 SubmittersRCV002512495RCV003228813
NM_001282225.2(ADA2):c.1082-2A>G SNV
Germline		 Chr22:17182763 Likely pathogenic Vasculitis due to ADA2 deficiency Criteria Provided
Single Submitter

1 SubmittersRCV002761291
NM_002110.5(HCK):c.1545C>A (p.Tyr515Ter) SNV
Germline		 Chr20:32101483 Pathogenic Autoinflammation with pulmonary and cutaneous vasculitis No Assertion Criteria Provided

1 SubmittersRCV003158002
NM_001282225.2(ADA2):c.-47+2T>C SNV
Germline		 Chr22:17219354 Likely pathogenic Vasculitis due to ADA2 deficiency Criteria Provided
Single Submitter

1 SubmittersRCV003226027
NM_002350.4(LYN):c.1522T>C (p.Tyr508His) SNV
Germline		 Chr8:56010093 Pathogenic Autoinflammatory disease, systemic, with vasculitis No Assertion Criteria Provided

1 SubmittersRCV003228743
NM_001282225.2(ADA2):c.39C>A (p.Cys13Ter) SNV
Germline		 Chr22:17209639 Pathogenic Vasculitis due to ADA2 deficiency Criteria Provided
Single Submitter

1 SubmittersRCV003746726
NM_001282225.2(ADA2):c.322+2T>A SNV
Germline		 Chr22:17209354 Likely pathogenic Vasculitis due to ADA2 deficiency Criteria Provided
Single Submitter

1 SubmittersRCV003747433
NM_001282225.2(ADA2):c.660C>A (p.Tyr220Ter) SNV
Germline		 Chr22:17203656 Pathogenic Vasculitis due to ADA2 deficiency Criteria Provided
Single Submitter

1 SubmittersRCV003746441
NM_001282225.2(ADA2):c.753+2T>A SNV
Germline		 Chr22:17203561 Pathogenic Vasculitis due to ADA2 deficiency Criteria Provided
Single Submitter

1 SubmittersRCV003747562
NM_001282225.2(ADA2):c.323-2A>G SNV
Germline		 Chr22:17207292 Likely pathogenic Vasculitis due to ADA2 deficiency Criteria Provided
Single Submitter

1 SubmittersRCV003831484
NM_001282225.2(ADA2):c.1148G>A (p.Gly383Asp) SNV
Germline		 Chr22:17182695 Pathogenic Vasculitis due to ADA2 deficiency Criteria Provided
Single Submitter

1 SubmittersRCV003843070
NM_001282225.2(ADA2):c.611G>A (p.Trp204Ter) SNV
Germline		 Chr22:17203705 Pathogenic Vasculitis due to ADA2 deficiency Criteria Provided
Single Submitter

1 SubmittersRCV003988702
NM_001282225.2(ADA2):c.1447A>C (p.Ser483Arg) SNV
Germline		 Chr22:17181572 Likely pathogenic Vasculitis due to ADA2 deficiency Criteria Provided
Single Submitter

1 SubmittersRCV003990028
NM_013254.4(TBK1):c.1857G>A (p.Trp619Ter) SNV
Germline		 Chr12:64497045 Pathogenic Autoinflammation with arthritis and vasculitis No Assertion Criteria Provided

1 SubmittersRCV004597570
NM_013254.4(TBK1):c.634T>G (p.Tyr212Asp) SNV
Germline		 Chr12:64474323 Pathogenic Autoinflammation with arthritis and vasculitis No Assertion Criteria Provided

1 SubmittersRCV004597571