"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "ADA2"[g - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 583739	NC_000022.10:g.(?_17662353)_(17663671_?)dup	ADA2	Duplication	Vasculitis due to ADA2 deficiency	GUncertain significance
Select item 474907	NM_001282225.2(ADA2):c.1531A>C (p.Lys511Gln)	ADA2 (K469Q +3 more)	Single nucleotide variant (missense variant)	Vasculitis due to ADA2 deficiency +1 more	GUncertain significance
Select item 1409286	NM_001282225.2(ADA2):c.1522G>A (p.Val508Met)	ADA2 (V508M +3 more)	Single nucleotide variant (missense variant)	Vasculitis due to ADA2 deficiency	GUncertain significance
Select item 1905176	NM_001282225.2(ADA2):c.1513A>G (p.Ile505Val)	ADA2 (I385V +3 more)	Single nucleotide variant (missense variant)	Vasculitis due to ADA2 deficiency	GUncertain significance
Select item 1117194	NM_001282225.2(ADA2):c.1497G>A (p.Lys499=)	ADA2	Single nucleotide variant (synonymous variant)	Vasculitis due to ADA2 deficiency +1 more	GLikely benign
Select item 854562	NM_001282225.2(ADA2):c.1474A>G (p.Thr492Ala)	ADA2 (T450A +3 more)	Single nucleotide variant (missense variant)	Sneddon syndrome +2 more	GUncertain significance
Select item 1901465	NM_001282225.2(ADA2):c.1471_1472dup (p.Asn491fs)	ADA2 (N371fs +3 more)	Duplication (frameshift variant)	Vasculitis due to ADA2 deficiency	GLikely pathogenic
Select item 569098	NM_001282225.2(ADA2):c.1467G>C (p.Glu489Asp)	ADA2 (E489D +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 541736	NM_001282225.2(ADA2):c.1465G>C (p.Glu489Gln)	ADA2 (E489Q +3 more)	Single nucleotide variant (missense variant)	Vasculitis due to ADA2 deficiency +2 more	GUncertain significance
Select item 2181010	NM_001282225.2(ADA2):c.1455G>A (p.Leu485=)	ADA2	Single nucleotide variant (synonymous variant)	Vasculitis due to ADA2 deficiency	GLikely benign
Select item 2030834	NM_001282225.2(ADA2):c.1452C>G (p.Thr484=)	ADA2	Single nucleotide variant (synonymous variant)	Vasculitis due to ADA2 deficiency	GLikely benign
Select item 1489106	NM_001282225.2(ADA2):c.1445A>G (p.Tyr482Cys)	ADA2 (Y440C +3 more)	Single nucleotide variant (missense variant)	Vasculitis due to ADA2 deficiency	GUncertain significance
Select item 973613	NM_001282225.2(ADA2):c.1443G>T (p.Lys481Asn)	ADA2 (K240N +3 more)	Single nucleotide variant (missense variant)	Vasculitis due to ADA2 deficiency	GUncertain significance
Select item 2802119	NM_001282225.2(ADA2):c.1443-6C>G	ADA2	Single nucleotide variant (intron variant)	Vasculitis due to ADA2 deficiency	GLikely benign
Select item 1092493	NM_001282225.2(ADA2):c.1443-8del	ADA2	Deletion (intron variant)	Vasculitis due to ADA2 deficiency	GLikely benign
Select item 1549597	NM_001282225.2(ADA2):c.1443-10C>A	ADA2	Single nucleotide variant (intron variant)	Vasculitis due to ADA2 deficiency	GLikely benign
Select item 1654249	NM_001282225.2(ADA2):c.1443-13C>T	ADA2	Single nucleotide variant (intron variant)	Vasculitis due to ADA2 deficiency	GLikely benign
Select item 1356001	NM_001282225.2(ADA2):c.1443-16C>T	ADA2	Single nucleotide variant (intron variant)	Vasculitis due to ADA2 deficiency	GLikely benign
Select item 2028531	NM_001282225.2(ADA2):c.1443-18C>T	ADA2	Single nucleotide variant (intron variant)	Vasculitis due to ADA2 deficiency	GLikely benign
Select item 1603384	NM_001282225.2(ADA2):c.1442+20C>G	ADA2	Single nucleotide variant (intron variant)	Vasculitis due to ADA2 deficiency	GLikely benign
Select item 2068493	NM_001282225.2(ADA2):c.1442+11_1442+12inv	ADA2	Inversion (intron variant)	Vasculitis due to ADA2 deficiency	GLikely benign
Select item 402526	NM_001282225.2(ADA2):c.1442+11T>C	ADA2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 660764	NM_001282225.2(ADA2):c.1442+6T>C	ADA2	Single nucleotide variant (intron variant)	not provided +2 more	GUncertain significance
Select item 2188358	NM_001282225.2(ADA2):c.1442+3G>A	ADA2	Single nucleotide variant (intron variant)	Vasculitis due to ADA2 deficiency	GUncertain significance
Select item 1061719	NM_001282225.2(ADA2):c.1439T>C (p.Ile480Thr)	ADA2 (I239T +3 more)	Single nucleotide variant (missense variant)	Vasculitis due to ADA2 deficiency	GUncertain significance
Select item 961329	NM_001282225.2(ADA2):c.1430dup (p.Met477fs)	ADA2 (M435fs +3 more)	Duplication (frameshift variant)	Vasculitis due to ADA2 deficiency	GPathogenic
Select item 1428288	NM_001282225.2(ADA2):c.1430T>C (p.Met477Thr)	ADA2 (M236T +3 more)	Single nucleotide variant (missense variant)	Vasculitis due to ADA2 deficiency +1 more	GUncertain significance
Select item 786263	NM_001282225.2(ADA2):c.1423C>T (p.Leu475=)	ADA2	Single nucleotide variant (synonymous variant)	Vasculitis due to ADA2 deficiency +1 more	GLikely benign
Select item 579801	NM_001282225.2(ADA2):c.1423C>A (p.Leu475Met)	ADA2 (L475M +3 more)	Single nucleotide variant (missense variant)	Vasculitis due to ADA2 deficiency	GUncertain significance
Select item 860051	NM_001282225.2(ADA2):c.1397_1403del (p.Lys466fs)	ADA2 (K346fs +3 more)	Deletion (frameshift variant)	Autoinflammatory syndrome +2 more	GPathogenic/Likely pathogenic
Select item 474906	NM_001282225.2(ADA2):c.1386T>C (p.Ile462=)	ADA2	Single nucleotide variant (synonymous variant)	Autoinflammatory syndrome +2 more	GConflicting classifications of pathogenicity
Select item 566003	NM_001282225.2(ADA2):c.1385T>C (p.Ile462Thr)	ADA2 (I462T +3 more)	Single nucleotide variant (missense variant)	ADA2-related disorder +2 more	GUncertain significance
Select item 1417001	NM_001282225.2(ADA2):c.1373T>G (p.Val458Gly)	ADA2 (V458G +3 more)	Single nucleotide variant (missense variant)	Sneddon syndrome +1 more	GUncertain significance
Select item 1027878	NM_001282225.2(ADA2):c.1373T>A (p.Val458Asp)	ADA2 (V458D +3 more)	Single nucleotide variant (missense variant)	Vasculitis due to ADA2 deficiency +1 more	GPathogenic/Likely pathogenic
Select item 862378	NM_001282225.2(ADA2):c.1373T>C (p.Val458Ala)	ADA2 (V458A +3 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 2863455	NM_001282225.2(ADA2):c.1371G>A (p.Glu457=)	ADA2	Single nucleotide variant (synonymous variant)	Vasculitis due to ADA2 deficiency	GLikely benign
Select item 1444154	NM_001282225.2(ADA2):c.1362_1370del (p.Asp454_Tyr456del)	ADA2	Deletion (inframe_deletion)	Vasculitis due to ADA2 deficiency	GPathogenic
Select item 1127693	NM_001282225.2(ADA2):c.1368T>C (p.Tyr456=)	ADA2	Single nucleotide variant (synonymous variant)	Vasculitis due to ADA2 deficiency	GLikely benign
Select item 624611	NM_001282225.2(ADA2):c.1367A>G (p.Tyr456Cys)	ADA2 (Y456C +3 more)	Single nucleotide variant (missense variant)	Vasculitis due to ADA2 deficiency	GLikely pathogenic
Select item 402527	NM_001282225.2(ADA2):c.1359T>C (p.Tyr453=)	ADA2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 120299	NM_001282225.2(ADA2):c.1358A>G (p.Tyr453Cys)	ADA2 (Y453C +3 more)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +2 more	GPathogenic/Likely pathogenic
Select item 1521707	NM_001282225.2(ADA2):c.1355C>G (p.Ser452Cys)	ADA2 (S410C +3 more)	Single nucleotide variant (missense variant)	Vasculitis due to ADA2 deficiency +1 more	GUncertain significance
Select item 1034858	NM_001282225.2(ADA2):c.1353G>T (p.Leu451Phe)	ADA2 (L331F +3 more)	Single nucleotide variant (missense variant)	Vasculitis due to ADA2 deficiency	GUncertain significance
Select item 1407371	NM_001282225.2(ADA2):c.1349G>C (p.Gly450Ala)	ADA2 (G330A +3 more)	Single nucleotide variant (missense variant)	Vasculitis due to ADA2 deficiency +1 more	GUncertain significance
Select item 1026375	NM_001282225.2(ADA2):c.1348G>A (p.Gly450Ser)	ADA2 (G209S +3 more)	Single nucleotide variant (missense variant)	Vasculitis due to ADA2 deficiency +1 more	GUncertain significance
Select item 1410063	NM_001282225.2(ADA2):c.1335G>A (p.Met445Ile)	ADA2 (M204I +3 more)	Single nucleotide variant (missense variant)	Vasculitis due to ADA2 deficiency +1 more	GUncertain significance
Select item 1471435	NM_001282225.2(ADA2):c.1334T>C (p.Met445Thr)	ADA2 (M204T +3 more)	Single nucleotide variant (missense variant)	Vasculitis due to ADA2 deficiency	GUncertain significance
Select item 2892125	NM_001282225.2(ADA2):c.1303_1319del (p.His434_Pro435insTer)	ADA2	Deletion (nonsense)	Vasculitis due to ADA2 deficiency	GPathogenic
Select item 2916060	NM_001282225.2(ADA2):c.1317C>T (p.Ser439=)	ADA2	Single nucleotide variant (synonymous variant)	Vasculitis due to ADA2 deficiency	GLikely benign
Select item 2419957	NM_001282225.2(ADA2):c.1313_1314delinsAG (p.Ile438Lys)	ADA2 (I197K +3 more)	Indel (missense variant)	Vasculitis due to ADA2 deficiency	GUncertain significance
Select item 1399986	NM_001282225.2(ADA2):c.1307T>C (p.Met436Thr)	ADA2 (M195T +3 more)	Single nucleotide variant (missense variant)	Vasculitis due to ADA2 deficiency +1 more	GUncertain significance
Select item 1510288	NM_001282225.2(ADA2):c.1306A>G (p.Met436Val)	ADA2 (M436V +3 more)	Single nucleotide variant (missense variant)	Vasculitis due to ADA2 deficiency +1 more	GUncertain significance
Select item 2047958	NM_001282225.2(ADA2):c.1303C>T (p.Pro435Ser)	ADA2 (P194S +3 more)	Single nucleotide variant (missense variant)	Vasculitis due to ADA2 deficiency	GUncertain significance
Select item 784887	NM_001282225.2(ADA2):c.1303C>G (p.Pro435Ala)	ADA2 (P393A +3 more)	Single nucleotide variant (missense variant)	Vasculitis due to ADA2 deficiency	GLikely benign
Select item 1123299	NM_001282225.2(ADA2):c.1302C>T (p.His434=)	ADA2	Single nucleotide variant (synonymous variant)	Vasculitis due to ADA2 deficiency	GLikely benign
Select item 541742	NM_001282225.2(ADA2):c.1299G>A (p.Gly433=)	ADA2	Single nucleotide variant (synonymous variant)	Vasculitis due to ADA2 deficiency	GLikely benign
Select item 1553741	NM_001282225.2(ADA2):c.1278A>G (p.Val426=)	ADA2	Single nucleotide variant (synonymous variant)	Vasculitis due to ADA2 deficiency	GLikely benign
Select item 2030042	NM_001282225.2(ADA2):c.1271A>G (p.His424Arg)	ADA2 (H183R +3 more)	Single nucleotide variant (missense variant)	Vasculitis due to ADA2 deficiency	GUncertain significance
Select item 522502	NM_001282225.2(ADA2):c.1269C>G (p.Asn423Lys)	ADA2 (N381K +3 more)	Single nucleotide variant (missense variant)	Vasculitis due to ADA2 deficiency +1 more	GUncertain significance
Select item 2418001	NM_001282225.2(ADA2):c.1266G>A (p.Arg422=)	ADA2	Single nucleotide variant (synonymous variant)	Vasculitis due to ADA2 deficiency	GLikely benign
Select item 2194694	NM_001282225.2(ADA2):c.1252G>T (p.Val418Leu)	ADA2 (V376L +3 more)	Single nucleotide variant (missense variant)	Vasculitis due to ADA2 deficiency	GUncertain significance
Select item 1152384	NM_001282225.2(ADA2):c.1240-5_1240-4delinsGA	ADA2	Indel (intron variant)	Vasculitis due to ADA2 deficiency	GLikely benign
Select item 1129599	NM_001282225.2(ADA2):c.1240-4G>T	ADA2	Single nucleotide variant (intron variant)	Vasculitis due to ADA2 deficiency	GLikely benign
Select item 765303	NM_001282225.2(ADA2):c.1240-4G>A	ADA2	Single nucleotide variant (intron variant)	Vasculitis due to ADA2 deficiency	GLikely benign
Select item 2142087	NM_001282225.2(ADA2):c.1240-5C>T	ADA2	Single nucleotide variant (intron variant)	Vasculitis due to ADA2 deficiency	GLikely benign
Select item 402528	NM_001282225.2(ADA2):c.1240-5C>G	ADA2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1694255	NM_001282225.2(ADA2):c.1240-6G>A	ADA2	Single nucleotide variant (intron variant)	Autoinflammatory syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1651259	NM_001282225.2(ADA2):c.1240-14C>G	ADA2	Single nucleotide variant (intron variant)	Vasculitis due to ADA2 deficiency	GLikely benign
Select item 2819497	NM_001282225.2(ADA2):c.1240-15C>T	ADA2	Single nucleotide variant (intron variant)	Vasculitis due to ADA2 deficiency	GLikely benign
Select item 1086944	NM_001282225.2(ADA2):c.1239+10A>C	ADA2	Single nucleotide variant (intron variant)	Vasculitis due to ADA2 deficiency	GLikely benign
Select item 1665678	NM_001282225.2(ADA2):c.1239+9G>A	ADA2	Single nucleotide variant (intron variant)	Vasculitis due to ADA2 deficiency	GLikely benign
Select item 1171012	NM_001282225.2(ADA2):c.1225C>T (p.Pro409Ser)	ADA2 (P168S +2 more)	Single nucleotide variant (missense variant)	Vasculitis due to ADA2 deficiency	GUncertain significance
Select item 1980296	NM_001282225.2(ADA2):c.1223G>C (p.Cys408Ser)	ADA2 (C408S +3 more)	Single nucleotide variant (missense variant)	Vasculitis due to ADA2 deficiency	GUncertain significance
Select item 1668518	NM_001282225.2(ADA2):c.1221C>G (p.Val407=)	ADA2	Single nucleotide variant (synonymous variant)	Vasculitis due to ADA2 deficiency	GLikely benign
Select item 2897624	NM_001282225.2(ADA2):c.1218A>G (p.Glu406=)	ADA2	Single nucleotide variant (synonymous variant)	Vasculitis due to ADA2 deficiency	GLikely benign
Select item 956302	NM_001282225.2(ADA2):c.1214T>C (p.Ile405Thr)	ADA2 (I285T +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1694254	NM_001282225.2(ADA2):c.1213A>T (p.Ile405Leu)	ADA2 (I164L +3 more)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +1 more	GUncertain significance
Select item 1904005	NM_001282225.2(ADA2):c.1209C>T (p.Ile403=)	ADA2	Single nucleotide variant (synonymous variant)	Vasculitis due to ADA2 deficiency	GLikely benign
Select item 541738	NM_001282225.2(ADA2):c.1203G>A (p.Lys401=)	ADA2	Single nucleotide variant (synonymous variant)	Vasculitis due to ADA2 deficiency	GLikely benign
Select item 624612	NM_001282225.2(ADA2):c.1196G>A (p.Trp399Ter)	ADA2 (W399* +3 more)	Single nucleotide variant (nonsense)	Vasculitis due to ADA2 deficiency	GPathogenic
Select item 960634	NM_001282225.2(ADA2):c.1190A>C (p.Tyr397Ser)	ADA2 (Y397S +3 more)	Single nucleotide variant (missense variant)	Vasculitis due to ADA2 deficiency	GUncertain significance
Select item 938974	NM_001282225.2(ADA2):c.1184G>A (p.Arg395Lys)	ADA2 (R275K +3 more)	Single nucleotide variant (missense variant)	Vasculitis due to ADA2 deficiency	GUncertain significance
Select item 1614392	NM_001282225.2(ADA2):c.1176C>T (p.Pro392=)	ADA2	Single nucleotide variant (synonymous variant)	Vasculitis due to ADA2 deficiency	GLikely benign
Select item 841900	NM_001282225.2(ADA2):c.1173C>G (p.His391Gln)	ADA2 (H391Q +3 more)	Single nucleotide variant (missense variant)	Vasculitis due to ADA2 deficiency	GUncertain significance
Select item 541732	NM_001282225.2(ADA2):c.1172A>G (p.His391Arg)	ADA2 (H391R +3 more)	Single nucleotide variant (missense variant)	Vasculitis due to ADA2 deficiency +1 more	GUncertain significance
Select item 1131318	NM_001282225.2(ADA2):c.1155A>T (p.Gly385=)	ADA2	Single nucleotide variant (synonymous variant)	Vasculitis due to ADA2 deficiency	GLikely benign
Select item 2982423	NM_001282225.2(ADA2):c.1148G>A (p.Gly383Asp)	ADA2 (G341D +3 more)	Single nucleotide variant (missense variant)	Vasculitis due to ADA2 deficiency	GPathogenic
Select item 189343	NM_001282225.2(ADA2):c.1147G>A (p.Gly383Ser)	ADA2 (G142S +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1456802	NM_001282225.2(ADA2):c.1146C>T (p.Ile382=)	ADA2	Single nucleotide variant (synonymous variant)	Vasculitis due to ADA2 deficiency +1 more	GLikely benign
Select item 864055	NM_001282225.2(ADA2):c.1146C>G (p.Ile382Met)	ADA2 (I382M +3 more)	Single nucleotide variant (missense variant)	Vasculitis due to ADA2 deficiency	GUncertain significance
Select item 851467	NM_001282225.2(ADA2):c.1137_1139dup (p.Thr380dup)	ADA2	Duplication (inframe_insertion)	Vasculitis due to ADA2 deficiency +2 more	GConflicting classifications of pathogenicity
Select item 1017399	NM_001282225.2(ADA2):c.1139C>T (p.Thr380Ile)	ADA2 (T139I +3 more)	Single nucleotide variant (missense variant)	Vasculitis due to ADA2 deficiency	GUncertain significance
Select item 838958	NM_001282225.2(ADA2):c.1134C>A (p.Asn378Lys)	ADA2 (N137K +3 more)	Single nucleotide variant (missense variant)	Vasculitis due to ADA2 deficiency	GUncertain significance
Select item 648884	NM_001282225.2(ADA2):c.1118A>T (p.Asp373Val)	ADA2 (D132V +3 more)	Single nucleotide variant (missense variant)	Vasculitis due to ADA2 deficiency +1 more	GUncertain significance
Select item 1368933	NM_001282225.2(ADA2):c.1111A>T (p.Ile371Phe)	ADA2 (I371F +3 more)	Single nucleotide variant (missense variant)	Vasculitis due to ADA2 deficiency	GUncertain significance
Select item 1086029	NM_001282225.2(ADA2):c.1110C>T (p.Asn370=)	ADA2	Single nucleotide variant (synonymous variant)	Vasculitis due to ADA2 deficiency	GLikely benign
Select item 827684	NM_001282225.2(ADA2):c.1110C>A (p.Asn370Lys)	ADA2 (N129K +3 more)	Single nucleotide variant (missense variant)	Sneddon syndrome +3 more	GPathogenic/Likely pathogenic
Select item 2169458	NM_001282225.2(ADA2):c.1104C>T (p.Asp368=)	ADA2	Single nucleotide variant (synonymous variant)	Vasculitis due to ADA2 deficiency	GLikely benign
Select item 1361227	NM_001282225.2(ADA2):c.1100T>C (p.Ile367Thr)	ADA2 (I247T +3 more)	Single nucleotide variant (missense variant)	Vasculitis due to ADA2 deficiency	GUncertain significance
Select item 1907183	NM_001282225.2(ADA2):c.1099A>G (p.Ile367Val)	ADA2 (I325V +3 more)	Single nucleotide variant (missense variant)	Vasculitis due to ADA2 deficiency	GUncertain significance

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