ClinVar for MedGen (Select 854497) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25008421.	NM_001282225.2(ADA2):c.-47+2T>C GRCh37: Chr22:17700244 GRCh38: Chr22:17219354	ADA2		Vasculitis due to ADA2 deficiency	Likely pathogenic (May 2, 2023)	criteria provided, single submitter
Select item 25000962.	NM_001282225.2(ADA2):c.570C>A (p.Thr190=) GRCh37: Chr22:17684636 GRCh38: Chr22:17203746	ADA2		Vasculitis due to ADA2 deficiency, Sneddon syndrome	Likely benign (Apr 29, 2022)	criteria provided, single submitter
Select item 24282013.	NM_001282225.2(ADA2):c.990T>C (p.Thr330=) GRCh37: Chr22:17669320 GRCh38: Chr22:17188430	ADA2		Vasculitis due to ADA2 deficiency	Likely benign (Apr 18, 2022)	criteria provided, single submitter
Select item 24240994.	NC_000022.10:g.(?_17662373)_(17672720_?)dup GRCh37: Chr22:17662373-17672720	ADA2		Vasculitis due to ADA2 deficiency	Uncertain significance (Aug 19, 2022)	criteria provided, single submitter
Select item 24240985.	NC_000022.10:g.(?_17684433)_(17690567_?)dup GRCh37: Chr22:17684433-17690567	ADA2		Vasculitis due to ADA2 deficiency	Uncertain significance (Jul 11, 2022)	criteria provided, single submitter
Select item 24240976.	NC_000022.10:g.(?_17669209)_(17672720_?)del GRCh37: Chr22:17669209-17672720	ADA2		Vasculitis due to ADA2 deficiency	Pathogenic (Jul 12, 2022)	criteria provided, single submitter
Select item 24240957.	NC_000022.10:g.(?_17565982)_(20052185_?)del GRCh37: Chr22:17565982-20052185	ADA2, ARVCF, ATP6V1E1, BCL2L13, BID, C22orf39, CDC45, CECR2, CECR3, CLDN5, CLTCL1, COMT, DGCR2, DGCR6, ESS2, GNB1L, GP1BB, GSC2, HDHD5, HIRA, IL17RA, MICAL3, MRPL40, PEX26, PRODH, RTL10, SEPTIN5, SLC25A1, SLC25A18, TANGO2, TBX1, TMEM121B, TSSK2, TUBA8, TXNRD2, UFD1, USP18		Immunodeficiency 51, Vasculitis due to ADA2 deficiency	Pathogenic (Apr 17, 2022)	criteria provided, single submitter
Select item 24199578.	NM_001282225.2(ADA2):c.1313_1314delinsAG (p.Ile438Lys) GRCh37: Chr22:17662838-17662839 GRCh38: Chr22:17181948-17181949	ADA2	I197K, I318K, I396K, I438K	Vasculitis due to ADA2 deficiency	Uncertain significance (Dec 9, 2021)	criteria provided, single submitter
Select item 24187899.	NM_001282225.2(ADA2):c.27G>T (p.Arg9=) GRCh37: Chr22:17690541 GRCh38: Chr22:17209651	ADA2		Vasculitis due to ADA2 deficiency	Likely benign (Jun 8, 2022)	criteria provided, single submitter
Select item 241855210.	NM_001282225.2(ADA2):c.727A>G (p.Met243Val) GRCh37: Chr22:17684479 GRCh38: Chr22:17203589	ADA2	M123V, M201V, M243V	Vasculitis due to ADA2 deficiency	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 241800111.	NM_001282225.2(ADA2):c.1266G>A (p.Arg422=) GRCh37: Chr22:17662886 GRCh38: Chr22:17181996	ADA2		Vasculitis due to ADA2 deficiency	Likely benign (Apr 24, 2022)	criteria provided, single submitter
Select item 241715312.	NM_001282225.2(ADA2):c.660C>G (p.Tyr220Ter) GRCh37: Chr22:17684546 GRCh38: Chr22:17203656	ADA2	Y100, Y178, Y220*	Vasculitis due to ADA2 deficiency	Pathogenic (Sep 30, 2022)	criteria provided, single submitter
Select item 220217613.	NM_001282225.2(ADA2):c.961G>A (p.Gly321Arg) GRCh37: Chr22:17670843 GRCh38: Chr22:17189953	ADA2	G279R, G321R, G201R, G80R	Vasculitis due to ADA2 deficiency	Uncertain significance (Aug 20, 2022)	criteria provided, single submitter
Select item 220125214.	NM_001282225.2(ADA2):c.816A>G (p.Val272=) GRCh37: Chr22:17672638 GRCh38: Chr22:17191748	ADA2		Vasculitis due to ADA2 deficiency	Likely benign (Jul 23, 2022)	criteria provided, single submitter
Select item 220046315.	NM_001282225.2(ADA2):c.972+9T>C GRCh37: Chr22:17670823 GRCh38: Chr22:17189933	ADA2		Vasculitis due to ADA2 deficiency	Benign (Oct 26, 2022)	criteria provided, single submitter
Select item 220020316.	NM_001282225.2(ADA2):c.640A>G (p.Ile214Val) GRCh37: Chr22:17684566 GRCh38: Chr22:17203676	ADA2	I172V, I214V, I94V	Vasculitis due to ADA2 deficiency	Uncertain significance (Jan 26, 2022)	criteria provided, single submitter
Select item 219469417.	NM_001282225.2(ADA2):c.1252G>T (p.Val418Leu) GRCh37: Chr22:17662900 GRCh38: Chr22:17182010	ADA2	V376L, V177L, V298L, V418L	Vasculitis due to ADA2 deficiency	Uncertain significance (Apr 1, 2022)	criteria provided, single submitter
Select item 219340118.	NM_001282225.2(ADA2):c.457C>T (p.Pro153Ser) GRCh37: Chr22:17688046 GRCh38: Chr22:17207156	ADA2	P153S, P33S, P111S	Vasculitis due to ADA2 deficiency	Uncertain significance (Feb 23, 2022)	criteria provided, single submitter
Select item 219068119.	NM_001282225.2(ADA2):c.329C>T (p.Ala110Val) GRCh37: Chr22:17688174 GRCh38: Chr22:17207284	ADA2	A110V, A68V	Vasculitis due to ADA2 deficiency	Uncertain significance (Jan 19, 2022)	criteria provided, single submitter
Select item 218835820.	NM_001282225.2(ADA2):c.1442+3G>A GRCh37: Chr22:17662707 GRCh38: Chr22:17181817	ADA2		Vasculitis due to ADA2 deficiency	Uncertain significance (May 20, 2022)	criteria provided, single submitter
Select item 218760721.	NM_001282225.2(ADA2):c.542+4A>T GRCh37: Chr22:17687957 GRCh38: Chr22:17207067	ADA2		Vasculitis due to ADA2 deficiency	Uncertain significance (Aug 3, 2022)	criteria provided, single submitter
Select item 218379722.	NM_001282225.2(ADA2):c.298A>T (p.Asn100Tyr) GRCh37: Chr22:17690270 GRCh38: Chr22:17209380	ADA2	N100Y, N58Y	Vasculitis due to ADA2 deficiency	Uncertain significance (Jul 23, 2022)	criteria provided, single submitter
Select item 218150923.	NM_001282225.2(ADA2):c.446C>T (p.Ala149Val) GRCh37: Chr22:17688057 GRCh38: Chr22:17207167	ADA2	A29V, A107V, A149V	Vasculitis due to ADA2 deficiency	Uncertain significance (Mar 4, 2022)	criteria provided, single submitter
Select item 218101024.	NM_001282225.2(ADA2):c.1455G>A (p.Leu485=) GRCh37: Chr22:17662454 GRCh38: Chr22:17181564	ADA2		Vasculitis due to ADA2 deficiency	Likely benign (Apr 26, 2022)	criteria provided, single submitter
Select item 217600325.	NM_001282225.2(ADA2):c.355G>A (p.Val119Met) GRCh37: Chr22:17688148 GRCh38: Chr22:17207258	ADA2	V119M, V77M	Vasculitis due to ADA2 deficiency	Uncertain significance (Jun 15, 2022)	criteria provided, single submitter
Select item 217446126.	NM_001282225.2(ADA2):c.361A>G (p.Met121Val) GRCh37: Chr22:17688142 GRCh38: Chr22:17207252	ADA2	M79V, M121V, M1V	Vasculitis due to ADA2 deficiency	Uncertain significance (Oct 31, 2022)	criteria provided, single submitter
Select item 217358527.	NM_001282225.2(ADA2):c.171G>C (p.Glu57Asp) GRCh37: Chr22:17690397 GRCh38: Chr22:17209507	ADA2	E57D, E15D	Vasculitis due to ADA2 deficiency	Uncertain significance (Jul 15, 2022)	criteria provided, single submitter
Select item 217336428.	NM_001282225.2(ADA2):c.415A>G (p.Thr139Ala) GRCh37: Chr22:17688088 GRCh38: Chr22:17207198	ADA2	T139A, T19A, T97A	Vasculitis due to ADA2 deficiency	Uncertain significance (Sep 9, 2022)	criteria provided, single submitter
Select item 217263229.	NM_001282225.2(ADA2):c.337C>A (p.Leu113Ile) GRCh37: Chr22:17688166 GRCh38: Chr22:17207276	ADA2	L71I, L113I	Vasculitis due to ADA2 deficiency	Uncertain significance (Aug 2, 2022)	criteria provided, single submitter
Select item 217261530.	NM_001282225.2(ADA2):c.973-7C>T GRCh37: Chr22:17669344 GRCh38: Chr22:17188454	ADA2		Vasculitis due to ADA2 deficiency	Likely benign (Aug 31, 2022)	criteria provided, single submitter
Select item 217154831.	NM_001282225.2(ADA2):c.904G>A (p.Ala302Thr) GRCh37: Chr22:17670900 GRCh38: Chr22:17190010	ADA2	A182T, A260T, A302T, A61T	Vasculitis due to ADA2 deficiency	Uncertain significance (Mar 4, 2022)	criteria provided, single submitter
Select item 217035232.	NM_001282225.2(ADA2):c.390C>T (p.Tyr130=) GRCh37: Chr22:17688113 GRCh38: Chr22:17207223	ADA2		Vasculitis due to ADA2 deficiency	Likely benign (Aug 21, 2022)	criteria provided, single submitter
Select item 216976633.	NM_001282225.2(ADA2):c.767G>A (p.Ser256Asn) GRCh37: Chr22:17672687 GRCh38: Chr22:17191797	ADA2	S136N, S256N, S15N, S214N	Vasculitis due to ADA2 deficiency	Uncertain significance (Aug 19, 2022)	criteria provided, single submitter
Select item 216962534.	NM_001282225.2(ADA2):c.872C>T (p.Ser291Leu) GRCh37: Chr22:17672582 GRCh38: Chr22:17191692	ADA2	S171L, S249L, S291L, S50L	Vasculitis due to ADA2 deficiency	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 216945835.	NM_001282225.2(ADA2):c.1104C>T (p.Asp368=) GRCh37: Chr22:17663629 GRCh38: Chr22:17182739	ADA2		Vasculitis due to ADA2 deficiency	Likely benign (Aug 13, 2022)	criteria provided, single submitter
Select item 216939536.	NM_001282225.2(ADA2):c.144G>A (p.Gly48=) GRCh37: Chr22:17690424 GRCh38: Chr22:17209534	ADA2		Vasculitis due to ADA2 deficiency	Likely benign (Jun 10, 2022)	criteria provided, single submitter
Select item 216937737.	NM_001282225.2(ADA2):c.75C>G (p.Gly25=) GRCh37: Chr22:17690493 GRCh38: Chr22:17209603	ADA2		Vasculitis due to ADA2 deficiency	Uncertain significance (Jan 1, 2022)	criteria provided, single submitter
Select item 216492038.	NM_001282225.2(ADA2):c.972+10G>T GRCh37: Chr22:17670822 GRCh38: Chr22:17189932	ADA2		Vasculitis due to ADA2 deficiency	Likely benign (Apr 4, 2022)	criteria provided, single submitter
Select item 216241739.	NM_001282225.2(ADA2):c.111G>C (p.Leu37=) GRCh37: Chr22:17690457 GRCh38: Chr22:17209567	ADA2		Vasculitis due to ADA2 deficiency	Likely benign (Jun 15, 2022)	criteria provided, single submitter
Select item 216121540.	NM_001282225.2(ADA2):c.565G>T (p.Val189Leu) GRCh37: Chr22:17684641 GRCh38: Chr22:17203751	ADA2	V189L, V69L, V147L	Vasculitis due to ADA2 deficiency	Uncertain significance (Jun 9, 2022)	criteria provided, single submitter
Select item 215810141.	NM_001282225.2(ADA2):c.780T>G (p.His260Gln) GRCh37: Chr22:17672674 GRCh38: Chr22:17191784	ADA2	H19Q, H260Q, H140Q, H218Q	Vasculitis due to ADA2 deficiency	Uncertain significance (Jan 11, 2022)	criteria provided, single submitter
Select item 215517942.	NM_001282225.2(ADA2):c.975G>A (p.Val325=) GRCh37: Chr22:17669335 GRCh38: Chr22:17188445	ADA2		Vasculitis due to ADA2 deficiency	Likely benign (Sep 7, 2022)	criteria provided, single submitter
Select item 214208743.	NM_001282225.2(ADA2):c.1240-5C>T GRCh37: Chr22:17662917 GRCh38: Chr22:17182027	ADA2		Vasculitis due to ADA2 deficiency	Likely benign (Sep 25, 2022)	criteria provided, single submitter
Select item 213841244.	NM_001282225.2(ADA2):c.984G>C (p.Glu328Asp) GRCh37: Chr22:17669326 GRCh38: Chr22:17188436	ADA2	E208D, E328D, E87D, E286D	Vasculitis due to ADA2 deficiency	Likely pathogenic (Jan 16, 2022)	criteria provided, single submitter
Select item 213517945.	NM_001282225.2(ADA2):c.253C>G (p.His85Asp) GRCh37: Chr22:17690315 GRCh38: Chr22:17209425	ADA2	H85D, H43D	Vasculitis due to ADA2 deficiency	Uncertain significance (May 7, 2022)	criteria provided, single submitter
Select item 211705246.	NM_001282225.2(ADA2):c.973-11C>G GRCh37: Chr22:17669348 GRCh38: Chr22:17188458	ADA2		Vasculitis due to ADA2 deficiency	Likely benign (Mar 26, 2022)	criteria provided, single submitter
Select item 211236947.	NM_001282225.2(ADA2):c.580G>A (p.Glu194Lys) GRCh37: Chr22:17684626 GRCh38: Chr22:17203736	ADA2	E152K, E74K, E194K	Vasculitis due to ADA2 deficiency	Uncertain significance (Mar 15, 2022)	criteria provided, single submitter
Select item 210910848.	NM_001282225.2(ADA2):c.168G>A (p.Glu56=) GRCh37: Chr22:17690400 GRCh38: Chr22:17209510	ADA2		Vasculitis due to ADA2 deficiency	Likely benign (Mar 11, 2022)	criteria provided, single submitter
Select item 210892449.	NM_001282225.2(ADA2):c.980A>C (p.His327Pro) GRCh37: Chr22:17669330 GRCh38: Chr22:17188440	ADA2	H327P, H207P, H285P, H86P	Vasculitis due to ADA2 deficiency	Uncertain significance (Jul 15, 2022)	criteria provided, single submitter
Select item 210167950.	NM_001282225.2(ADA2):c.850A>C (p.Ile284Leu) GRCh37: Chr22:17672604 GRCh38: Chr22:17191714	ADA2	I43L, I164L, I242L, I284L	Vasculitis due to ADA2 deficiency	Uncertain significance (Feb 22, 2022)	criteria provided, single submitter
Select item 210158151.	NM_001282225.2(ADA2):c.151G>C (p.Val51Leu) GRCh37: Chr22:17690417 GRCh38: Chr22:17209527	ADA2	V51L, V9L	Vasculitis due to ADA2 deficiency	Uncertain significance (Aug 15, 2022)	criteria provided, single submitter
Select item 209275752.	NM_001282225.2(ADA2):c.643T>A (p.Ser215Thr) GRCh37: Chr22:17684563 GRCh38: Chr22:17203673	ADA2	S173T, S215T, S95T	Vasculitis due to ADA2 deficiency	Uncertain significance (Feb 4, 2022)	criteria provided, single submitter
Select item 209229153.	NM_001282225.2(ADA2):c.972+8A>G GRCh37: Chr22:17670824 GRCh38: Chr22:17189934	ADA2		Vasculitis due to ADA2 deficiency	Likely benign (Jul 26, 2022)	criteria provided, single submitter
Select item 209046054.	NM_001282225.2(ADA2):c.753+13C>G GRCh37: Chr22:17684440 GRCh38: Chr22:17203550	ADA2		Vasculitis due to ADA2 deficiency	Likely benign (Jun 12, 2022)	criteria provided, single submitter
Select item 208476855.	NM_001282225.2(ADA2):c.926T>C (p.Met309Thr) GRCh37: Chr22:17670878 GRCh38: Chr22:17189988	ADA2	M68T, M189T, M267T, M309T	Vasculitis due to ADA2 deficiency	Uncertain significance (Jul 14, 2022)	criteria provided, single submitter
Select item 207957056.	NM_001282225.2(ADA2):c.466T>C (p.Ser156Pro) GRCh37: Chr22:17688037 GRCh38: Chr22:17207147	ADA2	S114P, S156P, S36P	Vasculitis due to ADA2 deficiency	Uncertain significance (Feb 22, 2022)	criteria provided, single submitter
Select item 207915757.	NM_001282225.2(ADA2):c.73G>A (p.Gly25Ser) GRCh37: Chr22:17690495 GRCh38: Chr22:17209605	ADA2	G25S	Vasculitis due to ADA2 deficiency	Uncertain significance (Jul 1, 2022)	criteria provided, single submitter
Select item 207301858.	NM_001282225.2(ADA2):c.73G>T (p.Gly25Cys) GRCh37: Chr22:17690495 GRCh38: Chr22:17209605	ADA2	G25C	Vasculitis due to ADA2 deficiency	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 207037959.	NM_001282225.2(ADA2):c.250A>G (p.Met84Val) GRCh37: Chr22:17690318 GRCh38: Chr22:17209428	ADA2	M84V, M42V	Vasculitis due to ADA2 deficiency	Uncertain significance (Oct 21, 2022)	criteria provided, single submitter
Select item 206849360.	NM_001282225.2(ADA2):c.1442+11_1442+12inv GRCh37: Chr22:17662698-17662699 GRCh38: Chr22:17181808-17181809	ADA2		Vasculitis due to ADA2 deficiency	Likely benign (Jan 3, 2022)	criteria provided, single submitter
Select item 205838261.	NM_001282225.2(ADA2):c.98C>T (p.Thr33Ile) GRCh37: Chr22:17690470 GRCh38: Chr22:17209580	ADA2	T33I	Vasculitis due to ADA2 deficiency	Uncertain significance (Feb 17, 2022)	criteria provided, single submitter
Select item 204795862.	NM_001282225.2(ADA2):c.1303C>T (p.Pro435Ser) GRCh37: Chr22:17662849 GRCh38: Chr22:17181959	ADA2	P194S, P435S, P393S, P315S	Vasculitis due to ADA2 deficiency	Uncertain significance (Feb 11, 2022)	criteria provided, single submitter
Select item 204655063.	NM_001282225.2(ADA2):c.676G>A (p.Asp226Asn) GRCh37: Chr22:17684530 GRCh38: Chr22:17203640	ADA2	D226N, D106N, D184N	Vasculitis due to ADA2 deficiency	Uncertain significance (Dec 20, 2021)	criteria provided, single submitter
Select item 203452964.	NM_001282225.2(ADA2):c.543-18A>G GRCh37: Chr22:17684681 GRCh38: Chr22:17203791	ADA2		Vasculitis due to ADA2 deficiency	Likely benign (Oct 7, 2022)	criteria provided, single submitter
Select item 203083465.	NM_001282225.2(ADA2):c.1452C>G (p.Thr484=) GRCh37: Chr22:17662457 GRCh38: Chr22:17181567	ADA2		Vasculitis due to ADA2 deficiency	Likely benign (Sep 29, 2022)	criteria provided, single submitter
Select item 203004266.	NM_001282225.2(ADA2):c.1271A>G (p.His424Arg) GRCh37: Chr22:17662881 GRCh38: Chr22:17181991	ADA2	H183R, H304R, H382R, H424R	Vasculitis due to ADA2 deficiency	Uncertain significance (Oct 11, 2022)	criteria provided, single submitter
Select item 202853167.	NM_001282225.2(ADA2):c.1443-18C>T GRCh37: Chr22:17662484 GRCh38: Chr22:17181594	ADA2		Vasculitis due to ADA2 deficiency	Likely benign (Sep 2, 2022)	criteria provided, single submitter
Select item 202829368.	NM_001282225.2(ADA2):c.881+12T>C GRCh37: Chr22:17672561 GRCh38: Chr22:17191671	ADA2		Vasculitis due to ADA2 deficiency	Likely benign (Aug 31, 2022)	criteria provided, single submitter
Select item 202377369.	NM_001282225.2(ADA2):c.1055del (p.Pro352fs) GRCh37: Chr22:17669255 GRCh38: Chr22:17188365	ADA2	P232fs, P352fs, P310fs, P111fs	Vasculitis due to ADA2 deficiency	Pathogenic (Aug 12, 2022)	criteria provided, single submitter
Select item 202368370.	NM_001282225.2(ADA2):c.1038G>A (p.Lys346=) GRCh37: Chr22:17669272 GRCh38: Chr22:17188382	ADA2		Vasculitis due to ADA2 deficiency	Likely benign (Oct 7, 2022)	criteria provided, single submitter
Select item 201121071.	NM_001282225.2(ADA2):c.171G>A (p.Glu57=) GRCh37: Chr22:17690397 GRCh38: Chr22:17209507	ADA2		Vasculitis due to ADA2 deficiency	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 201082472.	NM_001282225.2(ADA2):c.339C>G (p.Leu113=) GRCh37: Chr22:17688164 GRCh38: Chr22:17207274	ADA2		Vasculitis due to ADA2 deficiency	Likely benign (Jun 26, 2022)	criteria provided, single submitter
Select item 200590973.	NM_001282225.2(ADA2):c.239del (p.Phe80fs) GRCh37: Chr22:17690329 GRCh38: Chr22:17209439	ADA2	F38fs, F80fs	Vasculitis due to ADA2 deficiency	Pathogenic (Sep 16, 2022)	criteria provided, single submitter
Select item 199511974.	NM_001282225.2(ADA2):c.101G>C (p.Arg34Pro) GRCh37: Chr22:17690467 GRCh38: Chr22:17209577	ADA2	R34P	Vasculitis due to ADA2 deficiency	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 198323375.	NM_001282225.2(ADA2):c.452C>T (p.Pro151Leu) GRCh37: Chr22:17688051 GRCh38: Chr22:17207161	ADA2	P151L, P31L, P109L	Vasculitis due to ADA2 deficiency	Uncertain significance (May 4, 2022)	criteria provided, single submitter
Select item 198180576.	NM_001282225.2(ADA2):c.1081+16G>A GRCh37: Chr22:17669213 GRCh38: Chr22:17188323	ADA2		Vasculitis due to ADA2 deficiency	Likely benign (Jun 8, 2022)	criteria provided, single submitter
Select item 198038177.	NM_001282225.2(ADA2):c.1082-2A>G GRCh37: Chr22:17663653 GRCh38: Chr22:17182763	ADA2		Vasculitis due to ADA2 deficiency	Likely pathogenic (Sep 30, 2022)	criteria provided, single submitter
Select item 198029678.	NM_001282225.2(ADA2):c.1223G>C (p.Cys408Ser) GRCh37: Chr22:17663510 GRCh38: Chr22:17182620	ADA2	C408S, C366S, C167S, C288S	Vasculitis due to ADA2 deficiency	Uncertain significance (Jun 19, 2022)	criteria provided, single submitter
Select item 196970479.	NM_001282225.2(ADA2):c.882-13G>T GRCh37: Chr22:17670935 GRCh38: Chr22:17190045	ADA2		Vasculitis due to ADA2 deficiency	Likely benign (Jul 6, 2022)	criteria provided, single submitter
Select item 195469480.	NM_001282225.2(ADA2):c.1058_1061del (p.Tyr353fs) GRCh37: Chr22:17669249-17669252 GRCh38: Chr22:17188359-17188362	ADA2	Y112fs, Y353fs, Y233fs, Y311fs	Vasculitis due to ADA2 deficiency	Pathogenic (Jun 12, 2021)	criteria provided, single submitter
Select item 194307881.	NM_001282225.2(ADA2):c.946C>T (p.Pro316Ser) GRCh37: Chr22:17670858 GRCh38: Chr22:17189968	ADA2	P274S, P316S, P196S, P75S	Vasculitis due to ADA2 deficiency	Uncertain significance (Apr 16, 2022)	criteria provided, single submitter
Select item 193837482.	NM_001282225.2(ADA2):c.884C>T (p.Ser295Phe) GRCh37: Chr22:17670920 GRCh38: Chr22:17190030	ADA2	S175F, S253F, S295F, S54F	Vasculitis due to ADA2 deficiency	Uncertain significance (May 12, 2022)	criteria provided, single submitter
Select item 193763083.	NM_001282225.2(ADA2):c.898G>C (p.Val300Leu) GRCh37: Chr22:17670906 GRCh38: Chr22:17190016	ADA2	V180L, V258L, V59L, V300L	Vasculitis due to ADA2 deficiency	Uncertain significance (May 4, 2022)	criteria provided, single submitter
Select item 193153384.	NM_001282225.2(ADA2):c.1082-12C>A GRCh37: Chr22:17663663 GRCh38: Chr22:17182773	ADA2		Vasculitis due to ADA2 deficiency	Likely benign (Sep 7, 2022)	criteria provided, single submitter
Select item 193090985.	NM_001282225.2(ADA2):c.317C>G (p.Pro106Arg) GRCh37: Chr22:17690251 GRCh38: Chr22:17209361	ADA2	P106R, P64R	Vasculitis due to ADA2 deficiency	Uncertain significance (Feb 25, 2022)	criteria provided, single submitter
Select item 191153886.	NM_001282225.2(ADA2):c.137dup (p.Arg49fs) GRCh37: Chr22:17690430-17690431 GRCh38: Chr22:17209540-17209541	ADA2	R7fs, R49fs	Vasculitis due to ADA2 deficiency	Pathogenic (Jan 22, 2022)	criteria provided, single submitter
Select item 190718387.	NM_001282225.2(ADA2):c.1099A>G (p.Ile367Val) GRCh37: Chr22:17663634 GRCh38: Chr22:17182744	ADA2	I325V, I247V, I367V, I126V	Vasculitis due to ADA2 deficiency	Uncertain significance (Mar 27, 2022)	criteria provided, single submitter
Select item 190517688.	NM_001282225.2(ADA2):c.1513A>G (p.Ile505Val) GRCh37: Chr22:17662396 GRCh38: Chr22:17181506	ADA2	I385V, I264V, I463V, I505V	Vasculitis due to ADA2 deficiency	Uncertain significance (Jul 30, 2022)	criteria provided, single submitter
Select item 190400589.	NM_001282225.2(ADA2):c.1209C>T (p.Ile403=) GRCh37: Chr22:17663524 GRCh38: Chr22:17182634	ADA2		Vasculitis due to ADA2 deficiency	Likely benign (May 4, 2022)	criteria provided, single submitter
Select item 190146590.	NM_001282225.2(ADA2):c.1471_1472dup (p.Asn491fs) GRCh37: Chr22:17662436-17662437 GRCh38: Chr22:17181546-17181547	ADA2	N371fs, N449fs, N250fs, N491fs	Vasculitis due to ADA2 deficiency	Likely pathogenic (Feb 23, 2022)	criteria provided, single submitter
Select item 190009791.	NM_001282225.2(ADA2):c.980A>G (p.His327Arg) GRCh37: Chr22:17669330 GRCh38: Chr22:17188440	ADA2	H327R, H285R, H86R, H207R	Vasculitis due to ADA2 deficiency	Uncertain significance (Jul 15, 2022)	criteria provided, single submitter
Select item 189636192.	NM_001282225.2(ADA2):c.323-8C>T GRCh37: Chr22:17688188 GRCh38: Chr22:17207298	ADA2		Vasculitis due to ADA2 deficiency	Likely benign (Sep 1, 2022)	criteria provided, single submitter
Select item 169426293.	NM_001282225.2(ADA2):c.562C>G (p.Leu188Val) GRCh37: Chr22:17684644 GRCh38: Chr22:17203754	ADA2	L146V, L188V, L68V	Autoinflammatory syndrome, Vasculitis due to ADA2 deficiency, Sneddon syndrome	Uncertain significance (Nov 2, 2021)	criteria provided, multiple submitters, no conflicts
Select item 169425594.	NM_001282225.2(ADA2):c.1240-6G>A GRCh37: Chr22:17662918 GRCh38: Chr22:17182028	ADA2		Vasculitis due to ADA2 deficiency, Autoinflammatory syndrome	Conflicting interpretations of pathogenicity (May 24, 2022)	criteria provided, conflicting interpretations
Select item 169425495.	NM_001282225.2(ADA2):c.1213A>T (p.Ile405Leu) GRCh37: Chr22:17663520 GRCh38: Chr22:17182630	ADA2	I164L, I285L, I363L, I405L	Vasculitis due to ADA2 deficiency, Autoinflammatory syndrome	Uncertain significance (Jul 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 169182196.	NM_001282225.2(ADA2):c.548T>C (p.Leu183Pro) GRCh37: Chr22:17684658 GRCh38: Chr22:17203768	ADA2	L141P, L183P, L63P	Vasculitis due to ADA2 deficiency	Likely pathogenic (Jun 21, 2022)	no assertion criteria provided
Select item 166851897.	NM_001282225.2(ADA2):c.1221C>G (p.Val407=) GRCh37: Chr22:17663512 GRCh38: Chr22:17182622	ADA2		Vasculitis due to ADA2 deficiency	Likely benign (Mar 16, 2021)	criteria provided, single submitter
Select item 166567898.	NM_001282225.2(ADA2):c.1239+9G>A GRCh37: Chr22:17663485 GRCh38: Chr22:17182595	ADA2		Vasculitis due to ADA2 deficiency	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 166010699.	NM_001282225.2(ADA2):c.1082-10G>A GRCh37: Chr22:17663661 GRCh38: Chr22:17182771	ADA2		Vasculitis due to ADA2 deficiency, Sneddon syndrome, Vasculitis due to ADA2 deficiency	Likely benign (Aug 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1654620100.	NM_001282225.2(ADA2):c.881+16G>A GRCh37: Chr22:17672557 GRCh38: Chr22:17191667	ADA2		Vasculitis due to ADA2 deficiency	Likely benign (May 10, 2021)	criteria provided, single submitter

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