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 SubmittersRCV000106380 RCV002262702 RCV002477260
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	10 SubmittersRCV000106382 RCV001570811 RCV002483175 RCV004751262
NM_001282225.2(ADA2):c.336C>G (p.His112Gln)	SNV Germline	Chr22:17207277	Pathogenic/Likely pathogenic	Vasculitis due to ADA2 deficiency Autoinflammatory syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA150806	rs_587777241	6 SubmittersRCV000106383 RCV002262703 RCV000722137
NM_001282225.2(ADA2):c.506G>A (p.Arg169Gln)	SNV Germline	Chr22:17207107	Pathogenic/Likely pathogenic	Vasculitis due to ADA2 deficiency Condition: not provided Inherited Immunodeficiency Diseases Vasculitis due to ADA2 deficiency Sneddon syndrome Sneddon syndrome Autoinflammatory syndrome ADA2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA150808	rs_77563738	25 SubmittersRCV000106384 RCV001091904 RCV001027542 RCV001536077 RCV001808328 RCV002262704 RCV003945041
NM_001282225.2(ADA2):c.139G>A (p.Gly47Arg)	SNV Germline	Chr22:17209539	Pathogenic/Likely pathogenic	Vasculitis due to ADA2 deficiency Condition: not provided Sneddon syndrome Vasculitis due to ADA2 deficiency Sneddon syndrome Autoinflammatory syndrome	Criteria Provided Multiple Submitters No Conflicts	CA150810	rs_202134424	15 SubmittersRCV000106385 RCV001091906 RCV002498474 RCV003445509 RCV002262705
NM_001282225.2(ADA2):c.752C>T (p.Pro251Leu)	SNV Germline	Chr22:17203564	Pathogenic/Likely pathogenic	Vasculitis due to ADA2 deficiency Condition: not provided Sneddon syndrome Vasculitis due to ADA2 deficiency	Criteria Provided Multiple Submitters No Conflicts	CA150812	rs_148936893	10 SubmittersRCV000106386 RCV001781437 RCV005025173
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 SubmittersRCV000106387 RCV000481270 RCV002505023
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 SubmittersRCV000169758 RCV000851530 RCV004584361
NM_001282225.2(ADA2):c.1147G>A (p.Gly383Ser)	SNV Germline	Chr22:17182696	Pathogenic/Likely pathogenic	Sneddon syndrome Vasculitis due to ADA2 deficiency Vasculitis due to ADA2 deficiency Sneddon syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA199245	rs_770689762	4 SubmittersRCV000169759 RCV001386673 RCV002485053 RCV002460949
NM_013254.4(TBK1):c.452C>T (p.Ser151Phe)	SNV Germline	Chr12:64466994	Conflicting classifications of pathogenicity	TBK1-related disorder not specified Motor neuron disease Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 Autoinflammation with arthritis and vasculitis Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	Criteria Provided Conflicting Classifications	CA6668820	rs_55824172	5 SubmittersRCV004745316 RCV005238811 RCV000492091 RCV005396861 RCV001855019
NM_001282225.2(ADA2):c.1072G>A (p.Gly358Arg)	SNV Germline	Chr22:17188348	Pathogenic	Condition: not provided ADA2-related disorder Vasculitis due to ADA2 deficiency	Criteria Provided Multiple Submitters No Conflicts	CA10087985	rs_45511697	5 SubmittersRCV000484766 RCV003419802 RCV001067680
NM_001282225.2(ADA2):c.563T>C (p.Leu188Pro)	SNV Germline	Chr22:17203753	Conflicting classifications of pathogenicity	Condition: not provided Sneddon syndrome Vasculitis due to ADA2 deficiency	Criteria Provided Conflicting Classifications	CA10088185	rs_760102576	2 SubmittersRCV000485130 RCV005027551
NM_001282225.2(ADA2):c.1386T>C (p.Ile462=)	SNV Germline	Chr22:17181876	Conflicting classifications of pathogenicity	Vasculitis due to ADA2 deficiency Autoinflammatory syndrome Condition: not provided ADA2-related disorder	Criteria Provided Conflicting Classifications	CA10087882	rs_373797039	4 SubmittersRCV000532561 RCV002263798 RCV003431109 RCV003952860
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 SubmittersRCV000652053 RCV001555751
NM_001282225.2(ADA2):c.973-2A>G	SNV Germline	Chr22:17188449	Pathogenic	Sneddon syndrome Sneddon syndrome Vasculitis due to ADA2 deficiency Vasculitis due to ADA2 deficiency Condition: not provided ADA2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA10088011	rs_139750129	14 SubmittersRCV003225732 RCV002499121 RCV000652057 RCV001091903 RCV003411545
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	CA321174661	rs_374974565	3 SubmittersRCV000706480 RCV002485772 RCV003420264
NM_001282225.2(ADA2):c.1467G>C (p.Glu489Asp)	SNV Germline	Chr22:17181552	Conflicting classifications of pathogenicity	Vasculitis due to ADA2 deficiency Autoinflammatory syndrome Condition: not provided not specified Vasculitis due to ADA2 deficiency Sneddon syndrome	Criteria Provided Conflicting Classifications	CA10087839	rs_61738625	5 SubmittersRCV000689639 RCV002263932 RCV003432734 RCV003151136 RCV005027849
NM_001282225.2(ADA2):c.194C>T (p.Thr65Met)	SNV Germline	Chr22:17209484	Conflicting classifications of pathogenicity	Vasculitis due to ADA2 deficiency Vasculitis due to ADA2 deficiency Sneddon syndrome Autoinflammatory syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA10088305	rs_61747288	4 SubmittersRCV000707211 RCV000765603 RCV002263952 RCV002263951
NM_001282225.2(ADA2):c.100C>T (p.Arg34Trp)	SNV Germline	Chr22:17209578	Conflicting classifications of pathogenicity	Vasculitis due to ADA2 deficiency Sneddon syndrome Vasculitis due to ADA2 deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA10088336	rs_750955849	3 SubmittersRCV000691112 RCV002499229 RCV005235464
NM_001282225.2(ADA2):c.1367A>G (p.Tyr456Cys)	SNV Germline	Chr22:17181895	Pathogenic	Vasculitis due to ADA2 deficiency	Criteria Provided Single Submitter	CA10087889	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	CA410232158	rs_1568966771	1 SubmittersRCV003768300
NM_001282225.2(ADA2):c.578C>T (p.Pro193Leu)	SNV Germline	Chr22:17203738	Conflicting classifications of pathogenicity	Vasculitis due to ADA2 deficiency Autoinflammatory syndrome Vasculitis due to ADA2 deficiency Sneddon syndrome	Criteria Provided Conflicting Classifications	CA10088182	rs_199567025	3 SubmittersRCV000801932 RCV002263991 RCV002495079
NM_001282225.2(ADA2):c.147G>A (p.Arg49=)	SNV Germline	Chr22:17209531	Conflicting classifications of pathogenicity	Vasculitis due to ADA2 deficiency Autoinflammatory syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA10088311	rs_146125672	3 SubmittersRCV000973818 RCV002264119 RCV003311928
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	CA10088159	rs_2231488	2 SubmittersRCV000908533 RCV002264082
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	CA410232491	rs_1489114116	7 SubmittersRCV001027541 RCV001328776 RCV002497346 RCV003325532
NM_001282225.2(ADA2):c.1085G>A (p.Trp362Ter)	SNV Germline	Chr22:17182758	Pathogenic	Vasculitis due to ADA2 deficiency	Criteria Provided Single Submitter	CA10087955	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 Sneddon syndrome Vasculitis due to ADA2 deficiency	Criteria Provided Conflicting Classifications	CA10087990	rs_116020027	4 SubmittersRCV001065569 RCV002264174 RCV005029653
NM_001282225.2(ADA2):c.934C>T (p.Arg312Ter)	SNV Germline	Chr22:17189980	Pathogenic	Vasculitis due to ADA2 deficiency Sneddon syndrome Vasculitis due to ADA2 deficiency	Criteria Provided Multiple Submitters No Conflicts	CA10088043	rs_368615054	3 SubmittersRCV001057009 RCV002482017
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	CA410225994	rs_2062118599	2 SubmittersRCV001218383
NM_001282225.2(ADA2):c.505C>T (p.Arg169Trp)	SNV Germline	Chr22:17207108	Pathogenic/Likely pathogenic	Vasculitis due to ADA2 deficiency Vasculitis due to ADA2 deficiency Sneddon syndrome	Criteria Provided Multiple Submitters No Conflicts	CA410229558	rs_775997344	2 SubmittersRCV001229165 RCV005029797
NM_001282225.2(ADA2):c.559A>C (p.Thr187Pro)	SNV Germline	Chr22:17203757	Likely pathogenic	Vasculitis due to ADA2 deficiency	No Assertion Criteria Provided	CA10088187	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	Criteria Provided Single Submitter	CA385601326	rs_769588220	3 SubmittersRCV001291944 RCV004601430
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	CA410231753	rs_748893301	2 SubmittersRCV001328777 RCV003583195
NM_001282225.2(ADA2):c.882-2A>G	SNV Germline	Chr22:17190034	Pathogenic	Vasculitis due to ADA2 deficiency	Criteria Provided Multiple Submitters No Conflicts	CA410233840	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	CA10087987	rs_144447953	2 SubmittersRCV001337504 RCV002493735
NM_001282225.2(ADA2):c.370C>T (p.Leu124=)	SNV Germline	Chr22:17207243	Conflicting classifications of pathogenicity	Vasculitis due to ADA2 deficiency Sneddon syndrome Vasculitis due to ADA2 deficiency	Criteria Provided Conflicting Classifications	CA513180099	rs_2123709418	2 SubmittersRCV001373171 RCV002476710
NM_001282225.2(ADA2):c.139G>C (p.Gly47Arg)	SNV Germline	Chr22:17209539	Pathogenic	Vasculitis due to ADA2 deficiency Sneddon syndrome Vasculitis due to ADA2 deficiency Autoinflammatory syndrome Condition: not provided ADA2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA10088319	rs_202134424	8 SubmittersRCV001390131 RCV001535952 RCV002264292 RCV003334041 RCV003399212
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	CA10088352	rs_367610393	2 SubmittersRCV001393996 RCV002264293
NM_001282225.2(ADA2):c.2T>A (p.Met1Lys)	SNV Germline	Chr22:17209676	Pathogenic	Vasculitis due to ADA2 deficiency	Criteria Provided Single Submitter	CA410231267	rs_745795188	1 SubmittersRCV001706872
NM_001282225.2(ADA2):c.25C>T (p.Arg9Trp)	SNV Germline	Chr22:17209653	Conflicting classifications of pathogenicity	Vasculitis due to ADA2 deficiency Sneddon syndrome Vasculitis due to ADA2 deficiency	Criteria Provided Conflicting Classifications	CA10088357	rs_753994372	2 SubmittersRCV001953039 RCV005031958
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	CA410233159	rs_1300843648	2 SubmittersRCV002005471 RCV004731219
NM_001282225.2(ADA2):c.316C>T (p.Pro106Ser)	SNV Germline	Chr22:17209362	Conflicting classifications of pathogenicity	Vasculitis due to ADA2 deficiency Autoinflammatory syndrome Sneddon syndrome Vasculitis due to ADA2 deficiency	Criteria Provided Conflicting Classifications	CA10088282	rs_747107966	3 SubmittersRCV002051169 RCV002264400 RCV005023289
NM_001282225.2(ADA2):c.2T>C (p.Met1Thr)	SNV Germline	Chr22:17209676	Pathogenic	Condition: not provided Vasculitis due to ADA2 deficiency	Criteria Provided Multiple Submitters No Conflicts	CA10088363	rs_745795188	2 SubmittersRCV004591629 RCV001937728
NM_001282225.2(ADA2):c.881+1G>A	SNV Germline	Chr22:17191682	Pathogenic	Vasculitis due to ADA2 deficiency	Criteria Provided Single Submitter	CA410225205	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	CA10088263	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 Vasculitis due to ADA2 deficiency Sneddon syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA10088143	rs_369924229	3 SubmittersRCV001896413 RCV005023385 RCV004822953
NM_001282225.2(ADA2):c.369G>T (p.Trp123Cys)	SNV Germline	Chr22:17207244	Likely pathogenic	Vasculitis due to ADA2 deficiency	Criteria Provided Single Submitter	CA410229847	rs_772909795	1 SubmittersRCV001986460
NM_001282225.2(ADA2):c.548T>C (p.Leu183Pro)	SNV Germline	Chr22:17203768	Likely pathogenic	Vasculitis due to ADA2 deficiency Sneddon syndrome Vasculitis due to ADA2 deficiency	Criteria Provided Single Submitter	CA410228956	rs_2517346966	2 SubmittersRCV002468948 RCV005025743
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	CA10087913	rs_781688965	2 SubmittersRCV002264601 RCV003101477
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	CA10088186	rs_765219776	4 SubmittersRCV002264608 RCV002496197 RCV003746610
NM_001282225.2(ADA2):c.754-5C>T	SNV Germline	Chr22:17191815	Conflicting classifications of pathogenicity	Autoinflammatory syndrome Vasculitis due to ADA2 deficiency	Criteria Provided Conflicting Classifications	CA10088092	rs_530979152	2 SubmittersRCV002264609 RCV005095922
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	CA321176330	rs_865858930	2 SubmittersRCV002264610 RCV003746611
NM_001282225.2(ADA2):c.984G>C (p.Glu328Asp)	SNV Germline	Chr22:17188436	Pathogenic	Vasculitis due to ADA2 deficiency	Criteria Provided Single Submitter	CA410233538	rs_2517294688	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	CA410228294	rs_2231487	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	CA371277040	rs_2486900565	2 SubmittersRCV002512493 RCV003228812
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	CA371277059	rs_1585690632	2 SubmittersRCV002512494 RCV003228884
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	CA371277062	rs_2486900588	2 SubmittersRCV002512495 RCV003228813
NM_001282225.2(ADA2):c.1082-2A>G	SNV Germline	Chr22:17182763	Likely pathogenic	Vasculitis due to ADA2 deficiency	Criteria Provided Single Submitter	CA10087956	rs_778965407	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	CA408543861	rs_2046034449	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	CA2573332084	rs_2517379776	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	CA371277052	rs_2486900574	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	CA410231167	rs_2517361483	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	CA410230002	rs_2517360088	1 SubmittersRCV003747433
NM_001282225.2(ADA2):c.660C>A (p.Tyr220Ter)	SNV Germline	Chr22:17203656	Pathogenic	Vasculitis due to ADA2 deficiency Sneddon syndrome Vasculitis due to ADA2 deficiency	Criteria Provided Multiple Submitters No Conflicts	CA10088165	rs_2231487	2 SubmittersRCV003746441 RCV005036978
NM_001282225.2(ADA2):c.753+2T>A	SNV Germline	Chr22:17203561	Pathogenic	Vasculitis due to ADA2 deficiency	Criteria Provided Single Submitter	CA410227757	rs_2517345941	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	CA410229949	rs_2062365477	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	CA410232331	rs_1212466958	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	CA10088176	rs_749240880	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	CA410231582	rs_2517274947	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
NM_001282225.2(ADA2):c.1326C>T (p.Asp442=)	SNV Germline	Chr22:17181936	Conflicting classifications of pathogenicity	Sneddon syndrome Vasculitis due to ADA2 deficiency Vasculitis due to ADA2 deficiency	Criteria Provided Conflicting Classifications			2 SubmittersRCV005032748 RCV005112804
NM_001282225.2(ADA2):c.1239+19G>A	SNV Germline	Chr22:17182585	Conflicting classifications of pathogenicity	Sneddon syndrome Vasculitis due to ADA2 deficiency Vasculitis due to ADA2 deficiency	Criteria Provided Conflicting Classifications			2 SubmittersRCV005029214 RCV005063257
NM_001282225.2(ADA2):c.1201A>T (p.Lys401Ter)	SNV Germline	Chr22:17182642	Likely pathogenic	Sneddon syndrome Vasculitis due to ADA2 deficiency	Criteria Provided Single Submitter			1 SubmittersRCV005029215
NM_001282225.2(ADA2):c.972+1G>C	SNV Germline	Chr22:17189941	Likely pathogenic	Sneddon syndrome Vasculitis due to ADA2 deficiency	Criteria Provided Single Submitter			1 SubmittersRCV005029216
NM_001282225.2(ADA2):c.794C>G (p.Ser265Ter)	SNV Germline	Chr22:17191770	Pathogenic	Vasculitis due to ADA2 deficiency Sneddon syndrome Vasculitis due to ADA2 deficiency	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV005112805 RCV005029220
NM_001282225.2(ADA2):c.368G>A (p.Trp123Ter)	SNV Germline	Chr22:17207245	Likely pathogenic	Sneddon syndrome Vasculitis due to ADA2 deficiency	Criteria Provided Single Submitter			1 SubmittersRCV005029222
NM_001282225.2(ADA2):c.322+1G>A	SNV Germline	Chr22:17209355	Likely pathogenic	Vasculitis due to ADA2 deficiency	Criteria Provided Single Submitter			1 SubmittersRCV005183294
NM_001282225.2(ADA2):c.402C>A (p.Cys134Ter)	SNV Germline	Chr22:17207211	Pathogenic	Vasculitis due to ADA2 deficiency	Criteria Provided Single Submitter			1 SubmittersRCV005203780

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 SubmittersRCV000106380 RCV002262702 RCV002477260

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

10 SubmittersRCV000106382 RCV001570811 RCV002483175 RCV004751262

NM_001282225.2(ADA2):c.336C>G (p.His112Gln)

SNV
Germline

Chr22:17207277

Pathogenic/Likely pathogenic

Vasculitis due to ADA2 deficiency
Autoinflammatory syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA150806

rs_587777241

6 SubmittersRCV000106383 RCV002262703 RCV000722137

NM_001282225.2(ADA2):c.506G>A (p.Arg169Gln)

SNV
Germline

Chr22:17207107

Pathogenic/Likely pathogenic

Vasculitis due to ADA2 deficiency
Condition: not provided
Inherited Immunodeficiency Diseases
Vasculitis due to ADA2 deficiency
Sneddon syndrome
Sneddon syndrome
Autoinflammatory syndrome
ADA2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA150808

rs_77563738

25 SubmittersRCV000106384 RCV001091904 RCV001027542 RCV001536077 RCV001808328 RCV002262704 RCV003945041

NM_001282225.2(ADA2):c.139G>A (p.Gly47Arg)

SNV
Germline

Chr22:17209539

Pathogenic/Likely pathogenic

Vasculitis due to ADA2 deficiency
Condition: not provided
Sneddon syndrome
Vasculitis due to ADA2 deficiency
Sneddon syndrome
Autoinflammatory syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA150810

rs_202134424

15 SubmittersRCV000106385 RCV001091906 RCV002498474 RCV003445509 RCV002262705

NM_001282225.2(ADA2):c.752C>T (p.Pro251Leu)

SNV
Germline

Chr22:17203564

Pathogenic/Likely pathogenic

Vasculitis due to ADA2 deficiency
Condition: not provided
Sneddon syndrome
Vasculitis due to ADA2 deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA150812

rs_148936893

10 SubmittersRCV000106386 RCV001781437 RCV005025173

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 SubmittersRCV000106387 RCV000481270 RCV002505023

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 SubmittersRCV000169758 RCV000851530 RCV004584361

NM_001282225.2(ADA2):c.1147G>A (p.Gly383Ser)

SNV
Germline

Chr22:17182696

Pathogenic/Likely pathogenic

Sneddon syndrome
Vasculitis due to ADA2 deficiency
Vasculitis due to ADA2 deficiency
Sneddon syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA199245

rs_770689762

4 SubmittersRCV000169759 RCV001386673 RCV002485053 RCV002460949

NM_013254.4(TBK1):c.452C>T (p.Ser151Phe)

SNV
Germline

Chr12:64466994

Conflicting classifications of pathogenicity

TBK1-related disorder
not specified
Motor neuron disease
Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8
Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
Autoinflammation with arthritis and vasculitis
Frontotemporal dementia and/or amyotrophic lateral sclerosis 4

Criteria Provided
Conflicting Classifications

CA6668820

rs_55824172

5 SubmittersRCV004745316 RCV005238811 RCV000492091 RCV005396861 RCV001855019

NM_001282225.2(ADA2):c.1072G>A (p.Gly358Arg)

SNV
Germline

Chr22:17188348

Pathogenic

Condition: not provided
ADA2-related disorder
Vasculitis due to ADA2 deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA10087985

rs_45511697

5 SubmittersRCV000484766 RCV003419802 RCV001067680

NM_001282225.2(ADA2):c.563T>C (p.Leu188Pro)

SNV
Germline

Chr22:17203753

Conflicting classifications of pathogenicity

Condition: not provided
Sneddon syndrome
Vasculitis due to ADA2 deficiency

Criteria Provided
Conflicting Classifications

CA10088185

rs_760102576

2 SubmittersRCV000485130 RCV005027551

NM_001282225.2(ADA2):c.1386T>C (p.Ile462=)

SNV
Germline

Chr22:17181876

Conflicting classifications of pathogenicity

Vasculitis due to ADA2 deficiency
Autoinflammatory syndrome
Condition: not provided
ADA2-related disorder

Criteria Provided
Conflicting Classifications

CA10087882

rs_373797039

4 SubmittersRCV000532561 RCV002263798 RCV003431109 RCV003952860

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 SubmittersRCV000652053 RCV001555751

NM_001282225.2(ADA2):c.973-2A>G

SNV
Germline

Chr22:17188449

Pathogenic

Sneddon syndrome
Sneddon syndrome
Vasculitis due to ADA2 deficiency
Vasculitis due to ADA2 deficiency
Condition: not provided
ADA2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA10088011

rs_139750129

14 SubmittersRCV003225732 RCV002499121 RCV000652057 RCV001091903 RCV003411545

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

CA321174661

rs_374974565

3 SubmittersRCV000706480 RCV002485772 RCV003420264

NM_001282225.2(ADA2):c.1467G>C (p.Glu489Asp)

SNV
Germline

Chr22:17181552

Conflicting classifications of pathogenicity

Vasculitis due to ADA2 deficiency
Autoinflammatory syndrome
Condition: not provided
not specified
Vasculitis due to ADA2 deficiency
Sneddon syndrome

Criteria Provided
Conflicting Classifications

CA10087839

rs_61738625

5 SubmittersRCV000689639 RCV002263932 RCV003432734 RCV003151136 RCV005027849

NM_001282225.2(ADA2):c.194C>T (p.Thr65Met)

SNV
Germline

Chr22:17209484

Conflicting classifications of pathogenicity

Vasculitis due to ADA2 deficiency
Vasculitis due to ADA2 deficiency
Sneddon syndrome
Autoinflammatory syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10088305

rs_61747288

4 SubmittersRCV000707211 RCV000765603 RCV002263952 RCV002263951

NM_001282225.2(ADA2):c.100C>T (p.Arg34Trp)

SNV
Germline

Chr22:17209578

Conflicting classifications of pathogenicity

Vasculitis due to ADA2 deficiency
Sneddon syndrome
Vasculitis due to ADA2 deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10088336

rs_750955849

3 SubmittersRCV000691112 RCV002499229 RCV005235464

NM_001282225.2(ADA2):c.1367A>G (p.Tyr456Cys)

SNV
Germline

Chr22:17181895

Pathogenic

Vasculitis due to ADA2 deficiency

Criteria Provided
Single Submitter

CA10087889

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

CA410232158

rs_1568966771

1 SubmittersRCV003768300

NM_001282225.2(ADA2):c.578C>T (p.Pro193Leu)

SNV
Germline

Chr22:17203738

Conflicting classifications of pathogenicity

Vasculitis due to ADA2 deficiency
Autoinflammatory syndrome
Vasculitis due to ADA2 deficiency
Sneddon syndrome

Criteria Provided
Conflicting Classifications

CA10088182

rs_199567025

3 SubmittersRCV000801932 RCV002263991 RCV002495079

NM_001282225.2(ADA2):c.147G>A (p.Arg49=)

SNV
Germline

Chr22:17209531

Conflicting classifications of pathogenicity

Vasculitis due to ADA2 deficiency
Autoinflammatory syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10088311

rs_146125672

3 SubmittersRCV000973818 RCV002264119 RCV003311928

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

CA10088159

rs_2231488

2 SubmittersRCV000908533 RCV002264082

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

CA410232491

rs_1489114116

7 SubmittersRCV001027541 RCV001328776 RCV002497346 RCV003325532

NM_001282225.2(ADA2):c.1085G>A (p.Trp362Ter)

SNV
Germline

Chr22:17182758

Pathogenic

Vasculitis due to ADA2 deficiency

Criteria Provided
Single Submitter

CA10087955

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
Sneddon syndrome
Vasculitis due to ADA2 deficiency

Criteria Provided
Conflicting Classifications

CA10087990

rs_116020027

4 SubmittersRCV001065569 RCV002264174 RCV005029653

NM_001282225.2(ADA2):c.934C>T (p.Arg312Ter)

SNV
Germline

Chr22:17189980

Pathogenic

Vasculitis due to ADA2 deficiency
Sneddon syndrome
Vasculitis due to ADA2 deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA10088043

rs_368615054

3 SubmittersRCV001057009 RCV002482017

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

CA410225994

rs_2062118599

2 SubmittersRCV001218383

NM_001282225.2(ADA2):c.505C>T (p.Arg169Trp)

SNV
Germline

Chr22:17207108

Pathogenic/Likely pathogenic

Vasculitis due to ADA2 deficiency
Vasculitis due to ADA2 deficiency
Sneddon syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA410229558

rs_775997344

2 SubmittersRCV001229165 RCV005029797

NM_001282225.2(ADA2):c.559A>C (p.Thr187Pro)

SNV
Germline

Chr22:17203757

Likely pathogenic

Vasculitis due to ADA2 deficiency

No Assertion Criteria Provided

CA10088187

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

Criteria Provided
Single Submitter

CA385601326

rs_769588220

3 SubmittersRCV001291944 RCV004601430

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

CA410231753

rs_748893301

2 SubmittersRCV001328777 RCV003583195

NM_001282225.2(ADA2):c.882-2A>G

SNV
Germline

Chr22:17190034

Pathogenic

Vasculitis due to ADA2 deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA410233840

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

CA10087987

rs_144447953

2 SubmittersRCV001337504 RCV002493735

NM_001282225.2(ADA2):c.370C>T (p.Leu124=)

SNV
Germline

Chr22:17207243

Conflicting classifications of pathogenicity

Vasculitis due to ADA2 deficiency
Sneddon syndrome
Vasculitis due to ADA2 deficiency

Criteria Provided
Conflicting Classifications

CA513180099

rs_2123709418

2 SubmittersRCV001373171 RCV002476710

NM_001282225.2(ADA2):c.139G>C (p.Gly47Arg)

SNV
Germline

Chr22:17209539

Pathogenic

Vasculitis due to ADA2 deficiency
Sneddon syndrome
Vasculitis due to ADA2 deficiency
Autoinflammatory syndrome
Condition: not provided
ADA2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA10088319

rs_202134424

8 SubmittersRCV001390131 RCV001535952 RCV002264292 RCV003334041 RCV003399212

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

CA10088352

rs_367610393

2 SubmittersRCV001393996 RCV002264293

NM_001282225.2(ADA2):c.2T>A (p.Met1Lys)

SNV
Germline

Chr22:17209676

Pathogenic

Vasculitis due to ADA2 deficiency

Criteria Provided
Single Submitter

CA410231267

rs_745795188

1 SubmittersRCV001706872

NM_001282225.2(ADA2):c.25C>T (p.Arg9Trp)

SNV
Germline

Chr22:17209653

Conflicting classifications of pathogenicity

Vasculitis due to ADA2 deficiency
Sneddon syndrome
Vasculitis due to ADA2 deficiency

Criteria Provided
Conflicting Classifications

CA10088357

rs_753994372

2 SubmittersRCV001953039 RCV005031958

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

CA410233159

rs_1300843648

2 SubmittersRCV002005471 RCV004731219

NM_001282225.2(ADA2):c.316C>T (p.Pro106Ser)

SNV
Germline

Chr22:17209362

Conflicting classifications of pathogenicity

Vasculitis due to ADA2 deficiency
Autoinflammatory syndrome
Sneddon syndrome
Vasculitis due to ADA2 deficiency

Criteria Provided
Conflicting Classifications

CA10088282

rs_747107966

3 SubmittersRCV002051169 RCV002264400 RCV005023289

NM_001282225.2(ADA2):c.2T>C (p.Met1Thr)

SNV
Germline

Chr22:17209676

Pathogenic

Condition: not provided
Vasculitis due to ADA2 deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA10088363

rs_745795188

2 SubmittersRCV004591629 RCV001937728

NM_001282225.2(ADA2):c.881+1G>A

SNV
Germline

Chr22:17191682

Pathogenic

Vasculitis due to ADA2 deficiency

Criteria Provided
Single Submitter

CA410225205

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

CA10088263

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
Vasculitis due to ADA2 deficiency
Sneddon syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10088143

rs_369924229

3 SubmittersRCV001896413 RCV005023385 RCV004822953

NM_001282225.2(ADA2):c.369G>T (p.Trp123Cys)

SNV
Germline

Chr22:17207244

Likely pathogenic

Vasculitis due to ADA2 deficiency

Criteria Provided
Single Submitter

CA410229847

rs_772909795

1 SubmittersRCV001986460

NM_001282225.2(ADA2):c.548T>C (p.Leu183Pro)

SNV
Germline

Chr22:17203768

Likely pathogenic

Vasculitis due to ADA2 deficiency
Sneddon syndrome
Vasculitis due to ADA2 deficiency

Criteria Provided
Single Submitter

CA410228956

rs_2517346966

2 SubmittersRCV002468948 RCV005025743

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

CA10087913

rs_781688965

2 SubmittersRCV002264601 RCV003101477

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

CA10088186

rs_765219776

4 SubmittersRCV002264608 RCV002496197 RCV003746610

NM_001282225.2(ADA2):c.754-5C>T

SNV
Germline

Chr22:17191815

Conflicting classifications of pathogenicity

Autoinflammatory syndrome
Vasculitis due to ADA2 deficiency

Criteria Provided
Conflicting Classifications

CA10088092

rs_530979152

2 SubmittersRCV002264609 RCV005095922

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

CA321176330

rs_865858930

2 SubmittersRCV002264610 RCV003746611

NM_001282225.2(ADA2):c.984G>C (p.Glu328Asp)

SNV
Germline

Chr22:17188436

Pathogenic

Vasculitis due to ADA2 deficiency

Criteria Provided
Single Submitter

CA410233538

rs_2517294688

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

CA410228294

rs_2231487

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

CA371277040

rs_2486900565

2 SubmittersRCV002512493 RCV003228812

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

CA371277059

rs_1585690632

2 SubmittersRCV002512494 RCV003228884

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

CA371277062

rs_2486900588

2 SubmittersRCV002512495 RCV003228813

NM_001282225.2(ADA2):c.1082-2A>G

SNV
Germline

Chr22:17182763

Likely pathogenic

Vasculitis due to ADA2 deficiency

Criteria Provided
Single Submitter

CA10087956

rs_778965407

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

CA408543861

rs_2046034449

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

CA2573332084

rs_2517379776

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

CA371277052

rs_2486900574

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

CA410231167

rs_2517361483

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

CA410230002

rs_2517360088

1 SubmittersRCV003747433

NM_001282225.2(ADA2):c.660C>A (p.Tyr220Ter)

SNV
Germline

Chr22:17203656

Pathogenic

Vasculitis due to ADA2 deficiency
Sneddon syndrome
Vasculitis due to ADA2 deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA10088165

rs_2231487

2 SubmittersRCV003746441 RCV005036978

NM_001282225.2(ADA2):c.753+2T>A

SNV
Germline

Chr22:17203561

Pathogenic

Vasculitis due to ADA2 deficiency

Criteria Provided
Single Submitter

CA410227757

rs_2517345941

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

CA410229949

rs_2062365477

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

CA410232331

rs_1212466958

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

CA10088176

rs_749240880

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

CA410231582

rs_2517274947

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

NM_001282225.2(ADA2):c.1326C>T (p.Asp442=)

SNV
Germline

Chr22:17181936

Conflicting classifications of pathogenicity

Sneddon syndrome
Vasculitis due to ADA2 deficiency
Vasculitis due to ADA2 deficiency

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005032748 RCV005112804

NM_001282225.2(ADA2):c.1239+19G>A

SNV
Germline

Chr22:17182585

Conflicting classifications of pathogenicity

Sneddon syndrome
Vasculitis due to ADA2 deficiency
Vasculitis due to ADA2 deficiency

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005029214 RCV005063257

NM_001282225.2(ADA2):c.1201A>T (p.Lys401Ter)

SNV
Germline

Chr22:17182642

Likely pathogenic

Sneddon syndrome
Vasculitis due to ADA2 deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV005029215

NM_001282225.2(ADA2):c.972+1G>C

SNV
Germline

Chr22:17189941

Likely pathogenic

Sneddon syndrome
Vasculitis due to ADA2 deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV005029216

NM_001282225.2(ADA2):c.794C>G (p.Ser265Ter)

SNV
Germline

Chr22:17191770

Pathogenic

Vasculitis due to ADA2 deficiency
Sneddon syndrome
Vasculitis due to ADA2 deficiency

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005112805 RCV005029220

NM_001282225.2(ADA2):c.368G>A (p.Trp123Ter)

SNV
Germline

Chr22:17207245

Likely pathogenic

Sneddon syndrome
Vasculitis due to ADA2 deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV005029222

NM_001282225.2(ADA2):c.322+1G>A

SNV
Germline

Chr22:17209355

Likely pathogenic

Vasculitis due to ADA2 deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV005183294

NM_001282225.2(ADA2):c.402C>A (p.Cys134Ter)

SNV
Germline

Chr22:17207211

Pathogenic

Vasculitis due to ADA2 deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV005203780