3560[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 148861	GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3	ADORA2A, ADORA2A-AS1 +823 more	Copy number gain	See cases	GPathogenic
Select item 57629	GRCh38/hg38 22q12.3-13.1(chr22:35333993-38900177)x1	ANKRD54, APOL1 +293 more	Copy number loss	See cases	GPathogenic
Select item 57630	GRCh38/hg38 22q12.3-13.1(chr22:36552376-37669915)x1	C1QTNF6, CACNG2 +93 more	Copy number loss	See cases	GPathogenic
Select item 150377	GRCh38/hg38 22q12.3-13.1(chr22:36904830-37555510)x1	C1QTNF6, CARD10 +62 more	Copy number loss	See cases	GUncertain significance
Select item 57942	GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3	LOC130067651, LOC130067652 +1004 more	Copy number gain	See cases	GPathogenic
Select item 2579193	GRCh38/hg38 22q12.3(chr22:37098319-37127846)x1	IL2RB, LOC130067341 +1 more	Copy number loss	Iron-refractory iron deficiency anemia	GPathogenic
Select item 57423	GRCh38/hg38 22q12.3-13.1(chr22:37124249-37580757)x3	C1QTNF6, CARD10 +51 more	Copy number gain	See cases	GUncertain significance
Select item 1430838	NM_000878.5(IL2RB):c.1652T>C (p.Val551Ala)	IL2RB (V551A)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1476714	NM_000878.5(IL2RB):c.1639C>T (p.Pro547Ser)	IL2RB (P547S)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2984507	NM_000878.5(IL2RB):c.1635G>A (p.Gln545=)	IL2RB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1395516	NM_000878.5(IL2RB):c.1631G>A (p.Gly544Asp)	IL2RB (G544D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2100100	NM_000878.5(IL2RB):c.1598C>T (p.Thr533Ile)	IL2RB (T533I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1392669	NM_000878.5(IL2RB):c.1588C>T (p.Pro530Ser)	IL2RB (P530S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1364121	NM_000878.5(IL2RB):c.1583G>A (p.Arg528His)	IL2RB (R528H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1520197	NM_000878.5(IL2RB):c.1582C>T (p.Arg528Cys)	IL2RB (R528C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3285866	NM_000878.5(IL2RB):c.1580C>T (p.Ala527Val)	IL2RB (A527V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1944030	NM_000878.5(IL2RB):c.1570G>A (p.Ala524Thr)	IL2RB (A524T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2065521	NM_000878.5(IL2RB):c.1554G>C (p.Gly518=)	IL2RB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2427872	NM_000878.5(IL2RB):c.1551T>G (p.Pro517=)	IL2RB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3285858	NM_000878.5(IL2RB):c.1550C>T (p.Pro517Leu)	IL2RB (P517L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1406893	NM_000878.5(IL2RB):c.1547C>T (p.Pro516Leu)	IL2RB (P516L)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1356854	NM_000878.5(IL2RB):c.1531_1540del (p.Phe511fs)	IL2RB (F511fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1938665	NM_000878.5(IL2RB):c.1536C>A (p.Pro512=)	IL2RB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2009370	NM_000878.5(IL2RB):c.1535C>T (p.Pro512Leu)	IL2RB (P512L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1922469	NM_000878.5(IL2RB):c.1526T>G (p.Val509Gly)	IL2RB (V509G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1651489	NM_000878.5(IL2RB):c.1524A>C (p.Gly508=)	IL2RB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2087676	NM_000878.5(IL2RB):c.1519G>A (p.Glu507Lys)	IL2RB (E507K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2790288	NM_000878.5(IL2RB):c.1512C>T (p.Gly504=)	IL2RB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2965666	NM_000878.5(IL2RB):c.1506C>T (p.Asp502=)	IL2RB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1986857	NM_000878.5(IL2RB):c.1501C>T (p.Pro501Ser)	IL2RB (P501S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1375501	NM_000878.5(IL2RB):c.1498G>T (p.Val500Phe)	IL2RB (V500F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1992446	NM_000878.5(IL2RB):c.1495G>C (p.Glu499Gln)	IL2RB (E499Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1488109	NM_000878.5(IL2RB):c.1495G>A (p.Glu499Lys)	IL2RB (E499K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2794891	NM_000878.5(IL2RB):c.1491G>A (p.Gly497=)	IL2RB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1925090	NM_000878.5(IL2RB):c.1490G>C (p.Gly497Ala)	IL2RB (G497A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1393561	NM_000878.5(IL2RB):c.1480C>T (p.Arg494Ter)	IL2RB (R494*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2008029	NM_000878.5(IL2RB):c.1479G>A (p.Leu493=)	IL2RB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1576547	NM_000878.5(IL2RB):c.1476G>A (p.Val492=)	IL2RB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2025264	NM_000878.5(IL2RB):c.1473G>A (p.Leu491=)	IL2RB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2571158	NM_000878.5(IL2RB):c.1467T>G (p.Pro489=)	IL2RB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2101620	NM_000878.5(IL2RB):c.1465C>G (p.Pro489Ala)	IL2RB (P489A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1962520	NM_000878.5(IL2RB):c.1462C>A (p.Pro488Thr)	IL2RB (P488T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1514566	NM_000878.5(IL2RB):c.1460C>A (p.Pro487Gln)	IL2RB (P487Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2967500	NM_000878.5(IL2RB):c.1453T>A (p.Phe485Ile)	IL2RB (F485I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1431696	NM_000878.5(IL2RB):c.1450G>A (p.Asp484Asn)	IL2RB (D484N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2034015	NM_000878.5(IL2RB):c.1444C>T (p.Leu482=)	IL2RB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1377900	NM_000878.5(IL2RB):c.1441G>T (p.Asp481Tyr)	IL2RB (D481Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2130283	NM_000878.5(IL2RB):c.1438C>A (p.Pro480Thr)	IL2RB (P480T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1420853	NM_000878.5(IL2RB):c.1436T>C (p.Val479Ala)	IL2RB (V479A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3001998	NM_000878.5(IL2RB):c.1435G>A (p.Val479Ile)	IL2RB (V479I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3285865	NM_000878.5(IL2RB):c.1433G>A (p.Gly478Glu)	IL2RB (G478E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2171115	NM_000878.5(IL2RB):c.1431A>G (p.Pro477=)	IL2RB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1404431	NM_000878.5(IL2RB):c.1427_1428delinsTG (p.Thr476Met)	IL2RB (T476M)	Indel (missense variant)	not provided	GUncertain significance
Select item 2185651	NM_000878.5(IL2RB):c.1427C>T (p.Thr476Ile)	IL2RB (T476I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1486403	NM_000878.5(IL2RB):c.1420C>A (p.Pro474Thr)	IL2RB (P474T)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2893470	NM_000878.5(IL2RB):c.1419G>T (p.Gly473=)	IL2RB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1429022	NM_000878.5(IL2RB):c.1418G>A (p.Gly473Glu)	IL2RB (G473E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2824156	NM_000878.5(IL2RB):c.1414C>T (p.Leu472=)	IL2RB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2099762	NM_000878.5(IL2RB):c.1413C>T (p.Pro471=)	IL2RB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3011135	NM_000878.5(IL2RB):c.1407C>T (p.Pro469=)	IL2RB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1579140	NM_000878.5(IL2RB):c.1405C>T (p.Pro469Ser)	IL2RB (P469S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2008457	NM_000878.5(IL2RB):c.1404C>A (p.Asp468Glu)	IL2RB (D468E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 730177	NM_000878.5(IL2RB):c.1404C>T (p.Asp468=)	IL2RB	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2491041	NM_000878.5(IL2RB):c.1402G>A (p.Asp468Asn)	IL2RB (D468N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1718895	NM_000878.5(IL2RB):c.1396G>T (p.Asp466Tyr)	IL2RB (D466Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1394487	NM_000878.5(IL2RB):c.1366C>G (p.Pro456Ala)	IL2RB (P456A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1917182	NM_000878.5(IL2RB):c.1362G>A (p.Arg454=)	IL2RB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1439715	NM_000878.5(IL2RB):c.1352G>A (p.Gly451Asp)	IL2RB (G451D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1354269	NM_000878.5(IL2RB):c.1351G>A (p.Gly451Ser)	IL2RB (G451S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2897900	NM_000878.5(IL2RB):c.1350C>T (p.Ala450=)	IL2RB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1509570	NM_000878.5(IL2RB):c.1348G>A (p.Ala450Thr)	IL2RB (A450T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2051961	NM_000878.5(IL2RB):c.1339G>A (p.Gly447Ser)	IL2RB (G447S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2124294	NM_000878.5(IL2RB):c.1337G>T (p.Gly446Val)	IL2RB (G446V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1528180	NM_000878.5(IL2RB):c.1332C>T (p.Ala444=)	IL2RB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2182003	NM_000878.5(IL2RB):c.1324A>C (p.Ser442Arg)	IL2RB (S442R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1413989	NM_000878.5(IL2RB):c.1318C>T (p.Pro440Ser)	IL2RB (P440S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1915076	NM_000878.5(IL2RB):c.1315A>G (p.Ser439Gly)	IL2RB (S439G)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2983875	NM_000878.5(IL2RB):c.1311C>A (p.Gly437=)	IL2RB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 791374	NM_000878.5(IL2RB):c.1309G>A (p.Gly437Ser)	IL2RB (G437S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1961443	NM_000878.5(IL2RB):c.1306G>A (p.Gly436Ser)	IL2RB (G436S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1577181	NM_000878.5(IL2RB):c.1305C>G (p.Leu435=)	IL2RB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1626841	NM_000878.5(IL2RB):c.1302C>T (p.Leu434=)	IL2RB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2299543	NM_000878.5(IL2RB):c.1297A>G (p.Ser433Gly)	IL2RB (S433G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2959289	NM_000878.5(IL2RB):c.1296C>A (p.Pro432=)	IL2RB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1597850	NM_000878.5(IL2RB):c.1296C>T (p.Pro432=)	IL2RB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1374062	NM_000878.5(IL2RB):c.1293C>T (p.Ser431=)	IL2RB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1524966	NM_000878.5(IL2RB):c.1292C>T (p.Ser431Phe)	IL2RB (S431F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2714149	NM_000878.5(IL2RB):c.1284G>A (p.Leu428=)	IL2RB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1964310	NM_000878.5(IL2RB):c.1259C>A (p.Thr420Asn)	IL2RB (T420N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1176772	NM_000878.5(IL2RB):c.1257C>T (p.Cys419=)	IL2RB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1405774	NM_000878.5(IL2RB):c.1252T>C (p.Tyr418His)	IL2RB (Y418H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1412505	NM_000878.5(IL2RB):c.1249G>A (p.Ala417Thr)	IL2RB (A417T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1115018	NM_000878.5(IL2RB):c.1248C>T (p.Asp416=)	IL2RB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2964795	NM_000878.5(IL2RB):c.1245C>T (p.Asp415=)	IL2RB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1944699	NM_000878.5(IL2RB):c.1237G>A (p.Gly413Arg)	IL2RB (G413R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2192359	NM_000878.5(IL2RB):c.1233G>C (p.Leu411=)	IL2RB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1424081	NM_000878.5(IL2RB):c.1229C>G (p.Pro410Arg)	IL2RB (P410R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2825838	NM_000878.5(IL2RB):c.1221C>G (p.Pro407=)	IL2RB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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