ADA2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59275	GRCh38/hg38 22q11.1-11.21(chr22:11121452-18167952)x3	CECR7, GAB4 +116 more	Copy number gain	See cases	GPathogenic
Select item 152141	GRCh38/hg38 22p11.2-q11.1(chr22:16367190-18178957)x4	LOC130066920, LOC130066917 +112 more	Copy number gain	See cases	GPathogenic
Select item 57553	GRCh38/hg38 22q11.1-11.21(chr22:16538125-20363937)x1	ADA2, ARVCF +234 more	Copy number loss	See cases	GPathogenic
Select item 58170	GRCh38/hg38 22q11.1-11.21(chr22:16578056-18134332)x3	ADA2, CECR7 +107 more	Copy number gain	See cases	GPathogenic
Select item 2499656	GRCh38/hg38 22q11.1-11.21(chr22:16804110-18162024)	ADA2, ATP6V1E1 +105 more	Copy number gain	Anomalous pulmonary venous return	GPathogenic
Select item 154503	GRCh38/hg38 22q11.1-11.21(chr22:16916608-18179006)x4	ADA2, ATP6V1E1 +105 more	Copy number gain	See cases	GPathogenic
Select item 154375	GRCh38/hg38 22q11.1-11.21(chr22:16916608-18997006)x4	ADA2, ATP6V1E1 +121 more	Copy number gain	See cases	GPathogenic
Select item 148255	GRCh38/hg38 22q11.1-11.21(chr22:16916608-17459881)x3	ADA2, CECR2 +45 more	Copy number gain	See cases	GLikely benign
Select item 144304	GRCh38/hg38 22q11.1-11.21(chr22:16916608-20354644)x1	ADA2, ARVCF +227 more	Copy number loss	See cases	GPathogenic
Select item 144303	GRCh38/hg38 22q11.1-11.21(chr22:16916608-20354644)x3	ADA2, ARVCF +227 more	Copy number gain	See cases	GPathogenic
Select item 144200	GRCh38/hg38 22q11.1-11.21(chr22:16916608-20343532)x3	LINC01664, LINC02891 +226 more	Copy number gain	See cases	GPathogenic
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic
Select item 59279	GRCh38/hg38 22q11.1-11.23(chr22:16916608-24358936)x3	LOC130067034, LOC130067035 +535 more	Copy number gain	See cases	GPathogenic
Select item 57427	GRCh38/hg38 22q11.1-11.21(chr22:16916608-18718532)x3	ADA2, ATP6V1E1 +114 more	Copy number gain	See cases	GPathogenic
Select item 57203	GRCh38/hg38 22q11.1-11.21(chr22:16916608-20324240)x1	ADA2, ARVCF +225 more	Copy number loss	See cases	GPathogenic
Select item 57202	GRCh38/hg38 22q11.1-11.21(chr22:16916608-20324240)x3	ADA2, ARVCF +225 more	Copy number gain	See cases	GPathogenic
Select item 57029	GRCh38/hg38 22q11.1-11.21(chr22:16916608-21151128)x3	LOC132090637, LOC132090638 +292 more	Copy number gain	See cases	GPathogenic
Select item 150808	GRCh38/hg38 22q11.1-11.21(chr22:16916743-18145439)x3	ADA2, ATP6V1E1 +101 more	Copy number gain	See cases	GPathogenic
Select item 149666	GRCh38/hg38 22q11.1-11.21(chr22:16916743-18718546)x3	ADA2, ATP6V1E1 +114 more	Copy number gain	See cases	GPathogenic
Select item 149401	GRCh38/hg38 22q11.1-11.21(chr22:16916743-18178991)x3	ADA2, ATP6V1E1 +105 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 144589	GRCh38/hg38 22q11.1-11.21(chr22:16916743-19597367)x3	ADA2, ATP6V1E1 +151 more	Copy number gain	See cases	GPathogenic
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 421492	NM_001282225.2(ADA2):c.1501T>C (p.Trp501Arg)	ADA2 (W459R +3 more)	Single nucleotide variant (missense variant)	not provided	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)	Vasculitis due to ADA2 deficiency +1 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)	Autoinflammatory syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1694257	NM_001282225.2(ADA2):c.1465G>A (p.Glu489Lys)	ADA2 (E248K +3 more)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome	GUncertain significance
Select item 541736	NM_001282225.2(ADA2):c.1465G>C (p.Glu489Gln)	ADA2 (E489Q +3 more)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +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 800755	NM_001282225.2(ADA2):c.1447_1451del (p.Ser483fs)	ADA2 (S242fs +3 more)	Deletion (frameshift variant)	Vasculitis due to ADA2 deficiency	GPathogenic
Select item 3064951	NM_001282225.2(ADA2):c.1447A>C (p.Ser483Arg)	ADA2 (S242R +3 more)	Single nucleotide variant (missense variant)	Vasculitis due to ADA2 deficiency	GLikely pathogenic
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 1285778	NM_001282225.2(ADA2):c.1442+119G>C	ADA2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1266748	NM_001282225.2(ADA2):c.1442+31G>A	ADA2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
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)	Vasculitis due to ADA2 deficiency +1 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)	Sneddon syndrome +1 more	GUncertain significance
Select item 786263	NM_001282225.2(ADA2):c.1423C>T (p.Leu475=)	ADA2	Single nucleotide variant (synonymous variant)	Sneddon syndrome +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)	Vasculitis due to ADA2 deficiency +1 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)	Sneddon syndrome +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 +1 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 624589	NM_001282225.2(ADA2):c.[1196G>A;1367A>G]	ADA2 (Y456C +7 more)	Single nucleotide variant (missense variant +1 more)	Vasculitis due to ADA2 deficiency	GPathogenic
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)	Sneddon syndrome +1 more	GUncertain significance
Select item 1526201	NM_001282225.2(ADA2):c.1354T>C (p.Ser452Pro)	ADA2 (S211P +3 more)	Single nucleotide variant (missense variant)	Vasculitis due to ADA2 deficiency	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	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 1694256	NM_001282225.2(ADA2):c.1283C>T (p.Thr428Ile)	ADA2 (T187I +3 more)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome	GUncertain significance
Select item 3341408	NM_001282225.2(ADA2):c.1278dup (p.Ala427fs)	ADA2 (A186fs +3 more)	Duplication (frameshift variant)	Vasculitis due to ADA2 deficiency	GLikely pathogenic
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

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