ClinVar Miner

List of variants in gene NBN reported as uncertain significance for Microcephaly, normal intelligence and immunodeficiency

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 592
Download table as spreadsheet
HGVS dbSNP
NC_000008.10:g.(?_90993597)_(90996795_?)dup
NM_002485.4(NBN):c.(?_-1)_(*1_?)dup
NM_002485.4(NBN):c.-26G>A rs201392451
NM_002485.4(NBN):c.1005_1007AAC[1] (p.Thr337del) rs770500095
NM_002485.4(NBN):c.1005_1007AAC[3] (p.Thr337dup) rs770500095
NM_002485.4(NBN):c.1010C>T (p.Thr337Ile) rs1335655343
NM_002485.4(NBN):c.1012C>T (p.Pro338Ser) rs1554560467
NM_002485.4(NBN):c.101T>G (p.Leu34Arg) rs1012390181
NM_002485.4(NBN):c.1023C>G (p.Ser341Arg) rs756023239
NM_002485.4(NBN):c.1034G>T (p.Gly345Val) rs587780089
NM_002485.4(NBN):c.1039T>C (p.Ser347Pro) rs1563539035
NM_002485.4(NBN):c.104T>C (p.Ile35Thr) rs587780773
NM_002485.4(NBN):c.1057A>C (p.Met353Leu) rs864622489
NM_002485.4(NBN):c.105T>G (p.Ile35Met) rs78870221
NM_002485.4(NBN):c.1060C>T (p.Pro354Ser) rs1064794336
NM_002485.4(NBN):c.1063A>G (p.Ser355Gly) rs762376159
NM_002485.4(NBN):c.1066G>A (p.Ala356Thr) rs777259845
NM_002485.4(NBN):c.1076A>G (p.Asn359Ser) rs768886664
NM_002485.4(NBN):c.1081A>G (p.Thr361Ala) rs1563538728
NM_002485.4(NBN):c.1091T>C (p.Val364Ala) rs370229163
NM_002485.4(NBN):c.109A>G (p.Asn37Asp) rs876658411
NM_002485.4(NBN):c.1100C>G (p.Thr367Arg)
NM_002485.4(NBN):c.1104_1109del (p.Ser369_Glu370del) rs1425019959
NM_002485.4(NBN):c.1118A>G (p.Asp373Gly) rs1563538492
NM_002485.4(NBN):c.1120A>G (p.Thr374Ala) rs1563538477
NM_002485.4(NBN):c.1121C>T (p.Thr374Ile) rs1174990974
NM_002485.4(NBN):c.1124+5A>T rs587782108
NM_002485.4(NBN):c.1124+6G>T rs375862750
NM_002485.4(NBN):c.1124G>C (p.Trp375Ser) rs1394437421
NM_002485.4(NBN):c.1125-3C>T rs587781326
NM_002485.4(NBN):c.1129T>G (p.Leu377Val) rs587780547
NM_002485.4(NBN):c.1133G>C (p.Ser378Thr) rs864622123
NM_002485.4(NBN):c.1146A>C (p.Lys382Asn) rs1554559357
NM_002485.4(NBN):c.1147G>A (p.Glu383Lys) rs772909239
NM_002485.4(NBN):c.1153A>G (p.Lys385Glu) rs1563532612
NM_002485.4(NBN):c.1154A>G (p.Lys385Arg)
NM_002485.4(NBN):c.115C>A (p.Gln39Lys) rs377730553
NM_002485.4(NBN):c.115C>G (p.Gln39Glu) rs377730553
NM_002485.4(NBN):c.1160C>G (p.Ser387Cys) rs747632184
NM_002485.4(NBN):c.1162A>G (p.Lys388Glu) rs1252203605
NM_002485.4(NBN):c.1172A>G (p.Gln391Arg) rs201958895
NM_002485.4(NBN):c.1177T>C (p.Phe393Leu) rs941732827
NM_002485.4(NBN):c.1180A>G (p.Arg394Gly) rs1060503470
NM_002485.4(NBN):c.1193A>G (p.Gln398Arg) rs746965070
NM_002485.4(NBN):c.1194A>C (p.Gln398His) rs200046373
NM_002485.4(NBN):c.1194A>G (p.Gln398=) rs200046373
NM_002485.4(NBN):c.1197_1198delinsCT (p.Ala400Ser) rs1064795318
NM_002485.4(NBN):c.1197_1198inv (p.Ala400Thr)
NM_002485.4(NBN):c.1198G>C (p.Ala400Pro) rs551602980
NM_002485.4(NBN):c.119C>T (p.Ser40Leu) rs587781530
NM_002485.4(NBN):c.11T>C (p.Leu4Pro) rs748090667
NM_002485.4(NBN):c.11T>G (p.Leu4Arg) rs748090667
NM_002485.4(NBN):c.1202C>A (p.Pro401His) rs104895033
NM_002485.4(NBN):c.1202C>G (p.Pro401Arg) rs104895033
NM_002485.4(NBN):c.1204A>G (p.Thr402Ala) rs201373377
NM_002485.4(NBN):c.1205_1209del (p.Thr402fs) rs1563532144
NM_002485.4(NBN):c.1219T>A (p.Cys407Ser) rs1060503460
NM_002485.4(NBN):c.1228A>G (p.Ser410Gly) rs1185542329
NM_002485.4(NBN):c.1229G>T (p.Ser410Ile)
NM_002485.4(NBN):c.1230C>G (p.Ser410Arg) rs878854504
NM_002485.4(NBN):c.1232C>G (p.Ser411Cys) rs551032019
NM_002485.4(NBN):c.1235_1237ATA[2] (p.Asn414del) rs1563531915
NM_002485.4(NBN):c.1241A>G (p.Asn414Ser) rs1554559235
NM_002485.4(NBN):c.1243_1244insTTA (p.Ser415_Met416insIle) rs587781532
NM_002485.4(NBN):c.1244G>A (p.Ser415Asn)
NM_002485.4(NBN):c.1247T>C (p.Met416Thr) rs863224713
NM_002485.4(NBN):c.1248G>T (p.Met416Ile) rs756572268
NM_002485.4(NBN):c.1250T>G (p.Val417Gly) rs1554559216
NM_002485.4(NBN):c.1253C>T (p.Ser418Leu) rs1554559212
NM_002485.4(NBN):c.1255A>C (p.Asn419His) rs730881849
NM_002485.4(NBN):c.1262T>C (p.Leu421Ser) rs104895032
NM_002485.4(NBN):c.1274G>A (p.Arg425Lys) rs1060503478
NM_002485.4(NBN):c.1280C>G (p.Pro427Arg)
NM_002485.4(NBN):c.1282A>G (p.Asn428Asp) rs786202302
NM_002485.4(NBN):c.1283A>T (p.Asn428Ile) rs1406123091
NM_002485.4(NBN):c.1286A>G (p.Tyr429Cys) rs370121348
NM_002485.4(NBN):c.1290G>C (p.Gln430His) rs1554559149
NM_002485.4(NBN):c.1298C>G (p.Pro433Arg) rs1554559140
NM_002485.4(NBN):c.1301C>A (p.Thr434Asn) rs757452107
NM_002485.4(NBN):c.1301C>G (p.Thr434Ser) rs757452107
NM_002485.4(NBN):c.1301C>T (p.Thr434Ile) rs757452107
NM_002485.4(NBN):c.1313G>A (p.Ser438Asn)
NM_002485.4(NBN):c.1313G>T (p.Ser438Ile) rs786203131
NM_002485.4(NBN):c.1315A>G (p.Ile439Val) rs752837508
NM_002485.4(NBN):c.1322A>C (p.Lys441Thr) rs1329281031
NM_002485.4(NBN):c.1322A>G (p.Lys441Arg) rs1329281031
NM_002485.4(NBN):c.1327A>G (p.Lys443Glu) rs1554559094
NM_002485.4(NBN):c.1331A>C (p.Asp444Ala) rs1237800234
NM_002485.4(NBN):c.1335G>C (p.Arg445Ser)
NM_002485.4(NBN):c.1336G>A (p.Ala446Thr)
NM_002485.4(NBN):c.133C>G (p.His45Asp) rs773865323
NM_002485.4(NBN):c.1343A>T (p.Gln448Leu) rs146403088
NM_002485.4(NBN):c.1349A>G (p.Gln450Arg)
NM_002485.4(NBN):c.134A>G (p.His45Arg) rs1554569059
NM_002485.4(NBN):c.1353G>C (p.Gln451His)
NM_002485.4(NBN):c.1354A>C (p.Thr452Pro) rs141137543
NM_002485.4(NBN):c.1359C>A (p.Asn453Lys)
NM_002485.4(NBN):c.1361C>A (p.Ser454Tyr) rs587780774
NM_002485.4(NBN):c.1370A>G (p.Asn457Ser) rs876659312
NM_002485.4(NBN):c.1373A>G (p.Tyr458Cys) rs544909538
NM_002485.4(NBN):c.1381C>T (p.Pro461Ser) rs1554559015
NM_002485.4(NBN):c.1382C>T (p.Pro461Leu) rs367760321
NM_002485.4(NBN):c.1383G>A (p.Pro461=) rs886063169
NM_002485.4(NBN):c.1385C>T (p.Ser462Phe) rs1563530730
NM_002485.4(NBN):c.1387A>G (p.Thr463Ala)
NM_002485.4(NBN):c.1396delinsTTTT (p.Arg466delinsPheTrp)
NM_002485.4(NBN):c.1397+3C>G rs876660481
NM_002485.4(NBN):c.1397+5G>C rs1060503489
NM_002485.4(NBN):c.1398-10T>A rs539960851
NM_002485.4(NBN):c.1398-7A>G rs1563527772
NM_002485.4(NBN):c.1403G>A (p.Arg468Lys) rs781213350
NM_002485.4(NBN):c.1403G>C (p.Arg468Thr)
NM_002485.4(NBN):c.1404G>T (p.Arg468Ser) rs730881851
NM_002485.4(NBN):c.1405G>A (p.Asp469Asn) rs148205441
NM_002485.4(NBN):c.1405G>T (p.Asp469Tyr) rs148205441
NM_002485.4(NBN):c.1406A>G (p.Asp469Gly)
NM_002485.4(NBN):c.1409A>G (p.Glu470Gly) rs876660501
NM_002485.4(NBN):c.1412A>G (p.Glu471Gly) rs878854505
NM_002485.4(NBN):c.1415A>G (p.Asn472Ser) rs750711786
NM_002485.4(NBN):c.1417C>A (p.Gln473Lys) rs755805461
NM_002485.4(NBN):c.1423A>C (p.Met475Leu) rs767106269
NM_002485.4(NBN):c.1425G>A (p.Met475Ile) rs1180796619
NM_002485.4(NBN):c.1430C>T (p.Ser477Leu) rs767123014
NM_002485.4(NBN):c.1434C>T (p.Cys478=) rs1060503473
NM_002485.4(NBN):c.1444A>G (p.Arg482Gly) rs886063168
NM_002485.4(NBN):c.1445G>A (p.Arg482Lys) rs775451862
NM_002485.4(NBN):c.1448T>C (p.Ile483Thr) rs876658347
NM_002485.4(NBN):c.1448T>G (p.Ile483Arg)
NM_002485.4(NBN):c.1454C>T (p.Thr485Met) rs200891292
NM_002485.4(NBN):c.1456T>C (p.Ser486Pro) rs587781380
NM_002485.4(NBN):c.1463C>G (p.Ser488Cys) rs1060503472
NM_002485.4(NBN):c.1465C>G (p.Leu489Val) rs143948240
NM_002485.4(NBN):c.1470A>C (p.Leu490Phe)
NM_002485.4(NBN):c.1471G>A (p.Glu491Lys) rs776900339
NM_002485.4(NBN):c.1474C>A (p.Gln492Lys) rs587782130
NM_002485.4(NBN):c.1480C>A (p.Gln494Lys) rs587781557
NM_002485.4(NBN):c.1483C>T (p.Pro495Ser) rs747027298
NM_002485.4(NBN):c.1484C>G (p.Pro495Arg)
NM_002485.4(NBN):c.1484C>T (p.Pro495Leu) rs863224714
NM_002485.4(NBN):c.1487C>T (p.Ala496Val)
NM_002485.4(NBN):c.1499T>C (p.Leu500Ser) rs1563526901
NM_002485.4(NBN):c.149C>T (p.Ala50Val) rs1554569035
NM_002485.4(NBN):c.14T>A (p.Leu5Gln)
NM_002485.4(NBN):c.1509T>G (p.Asn503Lys) rs876660751
NM_002485.4(NBN):c.1511A>G (p.Lys504Arg) rs757754183
NM_002485.4(NBN):c.1516C>G (p.Gln506Glu) rs876658535
NM_002485.4(NBN):c.1519C>T (p.His507Tyr) rs1554558456
NM_002485.4(NBN):c.1520A>G (p.His507Arg) rs587782520
NM_002485.4(NBN):c.1521T>A (p.His507Gln)
NM_002485.4(NBN):c.1526C>A (p.Ser509Tyr) rs1554558450
NM_002485.4(NBN):c.1530G>C (p.Glu510Asp) rs1283330641
NM_002485.4(NBN):c.1533T>G (p.Asn511Lys) rs587780776
NM_002485.4(NBN):c.1534G>C (p.Glu512Gln) rs1554558445
NM_002485.4(NBN):c.1538C>T (p.Pro513Leu) rs1554558440
NM_002485.4(NBN):c.1549A>G (p.Asn517Asp) rs1040315184
NM_002485.4(NBN):c.1558A>G (p.Asn520Asp) rs944499155
NM_002485.4(NBN):c.1559A>G (p.Asn520Ser) rs750981708
NM_002485.4(NBN):c.1570A>G (p.Thr524Ala) rs1292640945
NM_002485.4(NBN):c.1580A>T (p.Asp527Val) rs1554558407
NM_002485.4(NBN):c.1581T>G (p.Asp527Glu)
NM_002485.4(NBN):c.1588T>C (p.Ser530Pro) rs1554558401
NM_002485.4(NBN):c.1591A>G (p.Ile531Val) rs587782330
NM_002485.4(NBN):c.1594G>A (p.Val532Met) rs545435120
NM_002485.4(NBN):c.1594G>T (p.Val532Leu) rs545435120
NM_002485.4(NBN):c.1616C>G (p.Ser539Cys)
NM_002485.4(NBN):c.1618C>T (p.His540Tyr) rs1554558393
NM_002485.4(NBN):c.1619A>G (p.His540Arg) rs730881852
NM_002485.4(NBN):c.1622C>G (p.Ala541Gly) rs876658501
NM_002485.4(NBN):c.1622C>T (p.Ala541Val)
NM_002485.4(NBN):c.1625C>T (p.Ala542Val)
NM_002485.4(NBN):c.1628A>C (p.Glu543Ala)
NM_002485.4(NBN):c.1637G>C (p.Arg546Thr) rs1360502904
NM_002485.4(NBN):c.1642A>C (p.Asn548His) rs772234785
NM_002485.4(NBN):c.1642A>G (p.Asn548Asp)
NM_002485.4(NBN):c.1650A>C (p.Lys550Asn) rs1554558368
NM_002485.4(NBN):c.1654G>C (p.Glu552Gln) rs1064793213
NM_002485.4(NBN):c.1657A>G (p.Met553Val) rs746347634
NM_002485.4(NBN):c.1657A>T (p.Met553Leu)
NM_002485.4(NBN):c.1659G>A (p.Met553Ile) rs876659960
NM_002485.4(NBN):c.1666G>A (p.Val556Met) rs771567358
NM_002485.4(NBN):c.1666G>T (p.Val556Leu) rs771567358
NM_002485.4(NBN):c.1667T>A (p.Val556Glu) rs558023830
NM_002485.4(NBN):c.1670C>G (p.Ala557Gly) rs1286743873
NM_002485.4(NBN):c.1670C>T (p.Ala557Val) rs1286743873
NM_002485.4(NBN):c.1672A>C (p.Ile558Leu) rs876659451
NM_002485.4(NBN):c.1672A>G (p.Ile558Val) rs876659451
NM_002485.4(NBN):c.167A>G (p.Asn56Ser) rs1554569009
NM_002485.4(NBN):c.1682A>C (p.Glu561Ala)
NM_002485.4(NBN):c.1684G>A (p.Val562Ile) rs754651655
NM_002485.4(NBN):c.1685T>G (p.Val562Gly) rs1060503455
NM_002485.4(NBN):c.1691A>G (p.Glu564Gly) rs1554558323
NM_002485.4(NBN):c.1699T>C (p.Phe567Leu) rs1554558312
NM_002485.4(NBN):c.16C>T (p.Pro6Ser) rs730881859
NM_002485.4(NBN):c.1700T>G (p.Phe567Cys) rs980167139
NM_002485.4(NBN):c.1703A>G (p.Lys568Arg) rs1488036998
NM_002485.4(NBN):c.1708A>G (p.Thr570Ala) rs730881854
NM_002485.4(NBN):c.170T>C (p.Leu57Pro) rs747920256
NM_002485.4(NBN):c.171+4T>C rs587782290
NM_002485.4(NBN):c.1711A>G (p.Lys571Glu) rs587780090
NM_002485.4(NBN):c.1714C>T (p.Pro572Ser) rs749918573
NM_002485.4(NBN):c.1715C>T (p.Pro572Leu) rs1554558303
NM_002485.4(NBN):c.172-3C>T rs587781620
NM_002485.4(NBN):c.172-8C>G
NM_002485.4(NBN):c.1729G>T (p.Asp577Tyr) rs587781881
NM_002485.4(NBN):c.1735A>C (p.Lys579Gln) rs993110145
NM_002485.4(NBN):c.1735A>G (p.Lys579Glu) rs993110145
NM_002485.4(NBN):c.1738G>A (p.Val580Ile) rs878854506
NM_002485.4(NBN):c.1749_1751GGA[1] (p.Glu585del) rs1554558265
NM_002485.4(NBN):c.1752G>C (p.Glu584Asp) rs1554558267
NM_002485.4(NBN):c.1754A>G (p.Glu585Gly) rs763926389
NM_002485.4(NBN):c.1759G>A (p.Val587Ile)
NM_002485.4(NBN):c.1763A>G (p.Asn588Ser) rs876658681
NM_002485.4(NBN):c.1770A>T (p.Arg590Ser)
NM_002485.4(NBN):c.1774A>G (p.Arg592Gly) rs1554558245
NM_002485.4(NBN):c.1776G>T (p.Arg592Ser) rs1554558244
NM_002485.4(NBN):c.1785G>A (p.Met595Ile)
NM_002485.4(NBN):c.1789A>G (p.Ile597Val) rs864622167
NM_002485.4(NBN):c.1795A>G (p.Thr599Ala) rs878854507
NM_002485.4(NBN):c.1796C>G (p.Thr599Arg) rs775848374
NM_002485.4(NBN):c.1796C>T (p.Thr599Ile)
NM_002485.4(NBN):c.1816G>A (p.Glu606Lys) rs774324419
NM_002485.4(NBN):c.1825C>A (p.Pro609Thr) rs372012641
NM_002485.4(NBN):c.1841T>C (p.Ile614Thr)
NM_002485.4(NBN):c.1842A>G (p.Ile614Met) rs770345026
NM_002485.4(NBN):c.1843T>C (p.Ser615Pro) rs746632073
NM_002485.4(NBN):c.1845+2dup
NM_002485.4(NBN):c.1845+3A>G rs587780777
NM_002485.4(NBN):c.1845+5_1845+8delGTAA rs1563524615
NM_002485.4(NBN):c.1845+6T>C
NM_002485.4(NBN):c.1846-5_1846-2dup rs1554556962
NM_002485.4(NBN):c.1848A>G (p.Gln616=) rs587782269
NM_002485.4(NBN):c.1849G>A (p.Glu617Lys) rs766602873
NM_002485.4(NBN):c.1849G>C (p.Glu617Gln)
NM_002485.4(NBN):c.1866G>C (p.Lys622Asn) rs587782221
NM_002485.4(NBN):c.186A>C (p.Glu62Asp)
NM_002485.4(NBN):c.1870C>T (p.Arg624Cys) rs962092255
NM_002485.4(NBN):c.1871G>A (p.Arg624His) rs587782297
NM_002485.4(NBN):c.1871_1873del (p.Arg624_Glu625delinsGln) rs1554556932
NM_002485.4(NBN):c.1873G>A (p.Glu625Lys) rs369049359
NM_002485.4(NBN):c.1874A>G (p.Glu625Gly) rs1554556929
NM_002485.4(NBN):c.1877T>G (p.Leu626Arg) rs1237629649
NM_002485.4(NBN):c.1880A>G (p.Lys627Arg) rs762174459
NM_002485.4(NBN):c.1880A>T (p.Lys627Met) rs762174459
NM_002485.4(NBN):c.1885G>T (p.Asp629Tyr) rs745559078
NM_002485.4(NBN):c.1886A>C (p.Asp629Ala)
NM_002485.4(NBN):c.1888T>C (p.Ser630Pro) rs377132067
NM_002485.4(NBN):c.188T>A (p.Ile63Asn)
NM_002485.4(NBN):c.1896G>T (p.Trp632Cys)
NM_002485.4(NBN):c.1898C>T (p.Ser633Leu) rs1554556897
NM_002485.4(NBN):c.1900G>A (p.Ala634Thr) rs1554556892
NM_002485.4(NBN):c.1908A>C (p.Glu636Asp) rs1563516272
NM_002485.4(NBN):c.1909_1910delinsTA (p.Ile637Ter) rs1563516254
NM_002485.4(NBN):c.190C>T (p.Pro64Ser) rs267602038
NM_002485.4(NBN):c.1910T>A (p.Ile637Lys) rs876658613
NM_002485.4(NBN):c.1912T>C (p.Ser638Pro) rs199657566
NM_002485.4(NBN):c.1913C>A (p.Ser638Tyr) rs756036331
NM_002485.4(NBN):c.1914+5G>A
NM_002485.4(NBN):c.1915-10C>G
NM_002485.4(NBN):c.1915-5T>G rs1554556608
NM_002485.4(NBN):c.1919A>G (p.Asn640Ser) rs748073091
NM_002485.4(NBN):c.191C>G (p.Pro64Arg) rs1563581492
NM_002485.4(NBN):c.1921G>A (p.Asp641Asn)
NM_002485.4(NBN):c.1922A>G (p.Asp641Gly) rs921235584
NM_002485.4(NBN):c.1923C>A (p.Asp641Glu) rs1563513669
NM_002485.4(NBN):c.1925A>G (p.Lys642Arg) rs587781547
NM_002485.4(NBN):c.1931A>G (p.Gln644Arg) rs1554556598
NM_002485.4(NBN):c.1935T>A (p.Asp645Glu)
NM_002485.4(NBN):c.1941T>A (p.Ser647Arg) rs1477953712
NM_002485.4(NBN):c.194T>A (p.Val65Glu) rs1563581457
NM_002485.4(NBN):c.1952C>T (p.Pro651Leu) rs1554556572
NM_002485.4(NBN):c.1954A>G (p.Lys652Glu)
NM_002485.4(NBN):c.1961T>G (p.Leu654Arg) rs758728938
NM_002485.4(NBN):c.1973A>G (p.Glu658Gly) rs587782155
NM_002485.4(NBN):c.1975T>G (p.Phe659Val) rs1060503469
NM_002485.4(NBN):c.1976T>G (p.Phe659Cys)
NM_002485.4(NBN):c.1979G>A (p.Arg660Lys) rs201781110
NM_002485.4(NBN):c.1979G>C (p.Arg660Thr) rs201781110
NM_002485.4(NBN):c.1987G>C (p.Val663Leu) rs1554556547
NM_002485.4(NBN):c.1993A>G (p.Lys665Glu) rs1554556544
NM_002485.4(NBN):c.1999T>C (p.Ser667Pro) rs587780091
NM_002485.4(NBN):c.199A>G (p.Thr67Ala) rs876660922
NM_002485.4(NBN):c.19G>A (p.Ala7Thr) rs587780779
NM_002485.4(NBN):c.2002A>G (p.Thr668Ala) rs138913151
NM_002485.4(NBN):c.2009G>A (p.Arg670Lys)
NM_002485.4(NBN):c.200C>T (p.Thr67Ile)
NM_002485.4(NBN):c.2012A>G (p.Asn671Ser) rs1563513183
NM_002485.4(NBN):c.2015C>T (p.Pro672Leu) rs6413508
NM_002485.4(NBN):c.2022C>T (p.Gly674=) rs1554556503
NM_002485.4(NBN):c.2027A>G (p.Asn676Ser) rs1404296922
NM_002485.4(NBN):c.2029G>A (p.Asp677Asn) rs730881856
NM_002485.4(NBN):c.2029_2031GAT[1] (p.Asp678del) rs1554556498
NM_002485.4(NBN):c.202T>G (p.Leu68Val) rs1200599843
NM_002485.4(NBN):c.2036A>G (p.Tyr679Cys) rs370295427
NM_002485.4(NBN):c.2038G>A (p.Gly680Ser) rs200564603
NM_002485.4(NBN):c.2051A>G (p.Asn684Ser) rs1554556477
NM_002485.4(NBN):c.2055C>G (p.Phe685Leu)
NM_002485.4(NBN):c.2060A>C (p.Lys687Thr) rs186371605
NM_002485.4(NBN):c.2063T>G (p.Phe688Cys) rs1563512800
NM_002485.4(NBN):c.2068A>C (p.Lys690Gln) rs587780092
NM_002485.4(NBN):c.2070+4G>A rs876660950
NM_002485.4(NBN):c.2070+5G>A rs1323512485
NM_002485.4(NBN):c.2070+5G>T rs1323512485
NM_002485.4(NBN):c.2071-4A>G rs746994234
NM_002485.4(NBN):c.2071G>A (p.Val691Ile) rs772059959
NM_002485.4(NBN):c.2075C>T (p.Thr692Ile) rs1060503474
NM_002485.4(NBN):c.2078A>G (p.Tyr693Cys) rs1563508706
NM_002485.4(NBN):c.207A>G (p.Lys69=) rs754352569
NM_002485.4(NBN):c.2080C>T (p.Pro694Ser)
NM_002485.4(NBN):c.2086G>A (p.Ala696Thr)
NM_002485.4(NBN):c.2087C>T (p.Ala696Val) rs1462278909
NM_002485.4(NBN):c.208G>A (p.Asp70Asn)
NM_002485.4(NBN):c.2098C>A (p.Pro700Thr) rs1060503461
NM_002485.4(NBN):c.209A>G (p.Asp70Gly)
NM_002485.4(NBN):c.2108T>C (p.Ile703Thr) rs1554555819
NM_002485.4(NBN):c.2115A>G (p.Gly705=) rs1173178388
NM_002485.4(NBN):c.2120_2128del (p.Asp707_Ile709del) rs1563508381
NM_002485.4(NBN):c.2128G>C (p.Ala710Pro) rs1554555808
NM_002485.4(NBN):c.2129C>T (p.Ala710Val) rs1060503454
NM_002485.4(NBN):c.2131C>T (p.His711Tyr)
NM_002485.4(NBN):c.2131_2133CAT[1] (p.His712del) rs786204096
NM_002485.4(NBN):c.2138C>G (p.Ala713Gly) rs986903713
NM_002485.4(NBN):c.2140C>G (p.Arg714Gly) rs730881864
NM_002485.4(NBN):c.2141G>A (p.Arg714Gln) rs753270166
NM_002485.4(NBN):c.2146A>G (p.Asn716Asp) rs72563785
NM_002485.4(NBN):c.2149A>T (p.Thr717Ser) rs587780093
NM_002485.4(NBN):c.214_215ins18 (p.?) rs1554568352
NM_002485.4(NBN):c.2150C>T (p.Thr717Ile) rs1554555764
NM_002485.4(NBN):c.2155_2157dup (p.Leu719dup) rs864622241
NM_002485.4(NBN):c.215C>T (p.Ser72Phe) rs1060503484
NM_002485.4(NBN):c.2162A>T (p.Glu721Val) rs1554555751
NM_002485.4(NBN):c.2165G>C (p.Trp722Ser)
NM_002485.4(NBN):c.2174A>C (p.Gln725Pro) rs878854510
NM_002485.4(NBN):c.2177A>C (p.Glu726Ala) rs1554555736
NM_002485.4(NBN):c.2181G>A (p.Met727Ile)
NM_002485.4(NBN):c.2183A>T (p.Glu728Val) rs1060503487
NM_002485.4(NBN):c.2184+5G>A rs1563507830
NM_002485.4(NBN):c.2184G>A (p.Glu728=)
NM_002485.4(NBN):c.2198A>G (p.His733Arg) rs998714046
NM_002485.4(NBN):c.2205_2207AGA[1] (p.Glu737del) rs1554554251
NM_002485.4(NBN):c.2206G>T (p.Glu736Ter) rs756831345
NM_002485.4(NBN):c.220T>C (p.Tyr74His) rs587780094
NM_002485.4(NBN):c.2210A>T (p.Glu737Val) rs1554554247
NM_002485.4(NBN):c.2215C>G (p.Leu739Val) rs370058152
NM_002485.4(NBN):c.2219C>T (p.Ala740Val) rs1554554240
NM_002485.4(NBN):c.221A>G (p.Tyr74Cys) rs1060503471
NM_002485.4(NBN):c.2221G>A (p.Asp741Asn)
NM_002485.4(NBN):c.2224G>T (p.Asp742Tyr)
NM_002485.4(NBN):c.2226T>A (p.Asp742Glu) rs767523514
NM_002485.4(NBN):c.2226T>G (p.Asp742Glu) rs767523514
NM_002485.4(NBN):c.2227_2228del (p.Leu743fs) rs876659551
NM_002485.4(NBN):c.2232del (p.Phe744fs) rs1554554233
NM_002485.4(NBN):c.2234+5A>C
NM_002485.4(NBN):c.2234+5A>G
NM_002485.4(NBN):c.224G>C (p.Gly75Ala) rs587782179
NM_002485.4(NBN):c.227C>A (p.Thr76Asn) rs587781412
NM_002485.4(NBN):c.227C>T (p.Thr76Ile) rs587781412
NM_002485.4(NBN):c.235A>C (p.Asn79His) rs786202749
NM_002485.4(NBN):c.235A>G (p.Asn79Asp) rs786202749
NM_002485.4(NBN):c.23C>T (p.Ala8Val) rs1060503459
NM_002485.4(NBN):c.244A>G (p.Lys82Glu) rs193921030
NM_002485.4(NBN):c.247A>T (p.Met83Leu) rs955258267
NM_002485.4(NBN):c.249G>A (p.Met83Ile) rs1438838735
NM_002485.4(NBN):c.254A>G (p.Asn85Ser) rs587780095
NM_002485.4(NBN):c.260T>C (p.Phe87Ser) rs786203573
NM_002485.4(NBN):c.266G>A (p.Arg89Gln) rs747315554
NM_002485.4(NBN):c.266G>C (p.Arg89Pro) rs747315554
NM_002485.4(NBN):c.26G>T (p.Gly9Val) rs1554569664
NM_002485.4(NBN):c.278C>T (p.Ser93Leu) rs12721593
NM_002485.4(NBN):c.27C>T (p.Gly9=) rs1554569662
NM_002485.4(NBN):c.283G>C (p.Asp95His)
NM_002485.4(NBN):c.284A>G (p.Asp95Gly) rs545276922
NM_002485.4(NBN):c.286G>A (p.Gly96Ser) rs730882133
NM_002485.4(NBN):c.289A>G (p.Ile97Val) rs730881855
NM_002485.4(NBN):c.28C>A (p.Pro10Thr) rs758228844
NM_002485.4(NBN):c.290T>C (p.Ile97Thr) rs1554568295
NM_002485.4(NBN):c.292A>C (p.Thr98Pro) rs1060503453
NM_002485.4(NBN):c.296T>A (p.Phe99Tyr) rs1187898389
NM_002485.4(NBN):c.2T>C (p.Met1Thr) rs746422391
NM_002485.4(NBN):c.301G>A (p.Val101Met) rs786202139
NM_002485.4(NBN):c.302T>C (p.Val101Ala) rs185493105
NM_002485.4(NBN):c.302T>G (p.Val101Gly) rs185493105
NM_002485.4(NBN):c.308G>T (p.Gly103Val) rs1554568272
NM_002485.4(NBN):c.310A>G (p.Ser104Gly) rs876658400
NM_002485.4(NBN):c.315A>G (p.Lys105=) rs13312858
NM_002485.4(NBN):c.320+6A>G rs757321173
NM_002485.4(NBN):c.321-3C>T rs751356470
NM_002485.4(NBN):c.323T>C (p.Ile108Thr) rs775217949
NM_002485.4(NBN):c.329A>G (p.Tyr110Cys) rs1355269482
NM_002485.4(NBN):c.332A>G (p.Glu111Gly) rs876659320
NM_002485.4(NBN):c.335C>G (p.Pro112Arg) rs759723870
NM_002485.4(NBN):c.340G>A (p.Val114Ile) rs771034958
NM_002485.4(NBN):c.340G>T (p.Val114Phe) rs771034958
NM_002485.4(NBN):c.343G>A (p.Ala115Thr)
NM_002485.4(NBN):c.346T>C (p.Cys116Arg)
NM_002485.4(NBN):c.349T>C (p.Ser117Pro) rs1563579445
NM_002485.4(NBN):c.34G>A (p.Gly12Arg) rs878854511
NM_002485.4(NBN):c.350C>T (p.Ser117Phe) rs1060503468
NM_002485.4(NBN):c.350_352CTT[1] (p.Ser118del) rs730881841
NM_002485.4(NBN):c.356G>C (p.Cys119Ser) rs749272832
NM_002485.4(NBN):c.359T>C (p.Leu120Ser) rs1563579387
NM_002485.4(NBN):c.361G>C (p.Asp121His) rs777916019
NM_002485.4(NBN):c.363T>A (p.Asp121Glu) rs987369991
NM_002485.4(NBN):c.36A>T (p.Gly12=) rs1554569658
NM_002485.4(NBN):c.37+10G>C rs369408590
NM_002485.4(NBN):c.37+2dupT rs876658183
NM_002485.4(NBN):c.37+3A>G rs764356392
NM_002485.4(NBN):c.37+6G>A rs540868733
NM_002485.4(NBN):c.37+6G>C rs540868733
NM_002485.4(NBN):c.37+6G>T rs540868733
NM_002485.4(NBN):c.37+8C>T rs1554569655
NM_002485.4(NBN):c.370G>A (p.Gly124Arg) rs1064794806
NM_002485.4(NBN):c.371G>A (p.Gly124Glu) rs781671474
NM_002485.4(NBN):c.373A>C (p.Lys125Gln) rs1563579253
NM_002485.4(NBN):c.376A>T (p.Thr126Ser)
NM_002485.4(NBN):c.37G>A (p.Gly13Arg) rs757112911
NM_002485.4(NBN):c.38-10T>A rs556807466
NM_002485.4(NBN):c.38-3C>G rs876661099
NM_002485.4(NBN):c.38-7A>G rs863224392
NM_002485.4(NBN):c.38-9T>G
NM_002485.4(NBN):c.380C>G (p.Ala127Gly) rs1554567966
NM_002485.4(NBN):c.385A>C (p.Asn129His) rs1060503477
NM_002485.4(NBN):c.388C>G (p.Gln130Glu)
NM_002485.4(NBN):c.390A>G (p.Gln130=) rs146150499
NM_002485.4(NBN):c.392C>G (p.Ala131Gly) rs1469136096
NM_002485.4(NBN):c.394A>G (p.Ile132Val) rs756946899
NM_002485.4(NBN):c.396A>G (p.Ile132Met) rs1060503462
NM_002485.4(NBN):c.3G>A (p.Met1Ile) rs1554569682
NM_002485.4(NBN):c.403C>G (p.Leu135Val) rs1409617560
NM_002485.4(NBN):c.406G>A (p.Gly136Arg) rs1554567936
NM_002485.4(NBN):c.424A>G (p.Asn142Asp)
NM_002485.4(NBN):c.425A>G (p.Asn142Ser) rs769414
NM_002485.4(NBN):c.431C>G (p.Thr144Arg) rs1554567906
NM_002485.4(NBN):c.442A>G (p.Thr148Ala) rs1060503479
NM_002485.4(NBN):c.454A>G (p.Met152Val) rs1554567872
NM_002485.4(NBN):c.456G>A (p.Met152Ile) rs201816949
NM_002485.4(NBN):c.468A>C (p.Lys156Asn) rs730881858
NM_002485.4(NBN):c.469G>A (p.Val157Ile) rs1060503486
NM_002485.4(NBN):c.47A>C (p.Tyr16Ser) rs864622726
NM_002485.4(NBN):c.480+3A>G rs756817252
NM_002485.4(NBN):c.480+5G>A rs753578226
NM_002485.4(NBN):c.480A>G (p.Lys160=) rs1554567842
NM_002485.4(NBN):c.481-3T>C rs1060503456
NM_002485.4(NBN):c.481-9T>A rs1563574400
NM_002485.4(NBN):c.484A>C (p.Ile162Leu)
NM_002485.4(NBN):c.485T>A (p.Ile162Lys) rs1554566766
NM_002485.4(NBN):c.493C>A (p.Leu165Ile) rs776810966
NM_002485.4(NBN):c.494T>G (p.Leu165Arg) rs1060503458
NM_002485.4(NBN):c.500G>A (p.Cys167Tyr) rs1060503464
NM_002485.4(NBN):c.503G>A (p.Gly168Glu) rs1554566728
NM_002485.4(NBN):c.505C>T (p.Arg169Cys) rs182756889
NM_002485.4(NBN):c.506G>A (p.Arg169His) rs776134250
NM_002485.4(NBN):c.508C>G (p.Pro170Ala) rs1554566720
NM_002485.4(NBN):c.509C>T (p.Pro170Leu) rs587782411
NM_002485.4(NBN):c.511A>C (p.Ile171Leu) rs61754966
NM_002485.4(NBN):c.511A>G (p.Ile171Val) rs61754966
NM_002485.4(NBN):c.514G>A (p.Val172Ile)
NM_002485.4(NBN):c.517A>G (p.Lys173Glu) rs1563574056
NM_002485.4(NBN):c.520C>A (p.Pro174Thr) rs587778546
NM_002485.4(NBN):c.523G>C (p.Glu175Gln)
NM_002485.4(NBN):c.52C>A (p.Leu18Ile) rs587781939
NM_002485.4(NBN):c.536A>T (p.Glu179Val) rs864622578
NM_002485.4(NBN):c.537A>T (p.Glu179Asp) rs1554566673
NM_002485.4(NBN):c.539T>G (p.Phe180Cys) rs1060503457
NM_002485.4(NBN):c.541C>A (p.Leu181Met) rs1060504930
NM_002485.4(NBN):c.547G>A (p.Ala183Thr) rs151070415
NM_002485.4(NBN):c.550G>A (p.Val184Ile) rs1554566641
NM_002485.4(NBN):c.550G>T (p.Val184Phe) rs1554566641
NM_002485.4(NBN):c.559A>C (p.Lys187Gln) rs1554566633
NM_002485.4(NBN):c.562A>C (p.Lys188Gln) rs1060503476
NM_002485.4(NBN):c.572C>T (p.Pro191Leu) rs876661071
NM_002485.4(NBN):c.580G>A (p.Glu194Lys) rs1554566610
NM_002485.4(NBN):c.584+3A>G rs587782407
NM_002485.4(NBN):c.584+5A>G rs1309889719
NM_002485.4(NBN):c.584+6T>C rs1554566602
NM_002485.4(NBN):c.585-3C>A
NM_002485.4(NBN):c.585-3C>T rs779430868
NM_002485.4(NBN):c.590A>G (p.Tyr197Cys) rs1563562194
NM_002485.4(NBN):c.592C>T (p.Pro198Ser) rs1554564306
NM_002485.4(NBN):c.593C>T (p.Pro198Leu) rs951997505
NM_002485.4(NBN):c.595C>T (p.Pro199Ser) rs587780097
NM_002485.4(NBN):c.596C>G (p.Pro199Arg) rs730881844
NM_002485.4(NBN):c.59C>T (p.Thr20Ile) rs1563584711
NM_002485.4(NBN):c.602A>G (p.Asp201Gly) rs587780098
NM_002485.4(NBN):c.602A>T (p.Asp201Val) rs587780098
NM_002485.4(NBN):c.611C>G (p.Ser204Cys) rs876659478
NM_002485.4(NBN):c.613A>G (p.Ile205Val) rs730881845
NM_002485.4(NBN):c.620G>T (p.Ser207Ile) rs587780099
NM_002485.4(NBN):c.628G>T (p.Val210Phe) rs61754796
NM_002485.4(NBN):c.633T>A (p.Asp211Glu) rs377700348
NM_002485.4(NBN):c.643C>T (p.Arg215Trp) rs34767364
NM_002485.4(NBN):c.644G>A (p.Arg215Gln) rs61753718
NM_002485.4(NBN):c.646C>A (p.Gln216Lys)
NM_002485.4(NBN):c.64G>A (p.Val22Ile) rs369910645
NM_002485.4(NBN):c.64G>T (p.Val22Phe) rs369910645
NM_002485.4(NBN):c.653G>T (p.Arg218Ile) rs786202250
NM_002485.4(NBN):c.656A>G (p.Lys219Arg) rs376951288
NM_002485.4(NBN):c.658C>G (p.Gln220Glu) rs876659811
NM_002485.4(NBN):c.658_660del (p.Gln220del) rs1563561699
NM_002485.4(NBN):c.664T>C (p.Phe222Leu) rs541992192
NM_002485.4(NBN):c.671G>A (p.Gly224Glu) rs199845467
NM_002485.4(NBN):c.680T>C (p.Phe227Ser) rs749025721
NM_002485.4(NBN):c.683T>G (p.Ile228Arg) rs777460725
NM_002485.4(NBN):c.684A>G (p.Ile228Met) rs1064793416
NM_002485.4(NBN):c.692A>C (p.Asn231Thr)
NM_002485.4(NBN):c.692A>G (p.Asn231Ser) rs1309274168
NM_002485.4(NBN):c.694G>A (p.Ala232Thr) rs878854515
NM_002485.4(NBN):c.701A>G (p.Gln234Arg)
NM_002485.4(NBN):c.703-3T>C rs876659566
NM_002485.4(NBN):c.703-6T>G rs1563560265
NM_002485.4(NBN):c.706A>G (p.Lys236Glu) rs1060503482
NM_002485.4(NBN):c.715A>C (p.Ser239Arg) rs587781868
NM_002485.4(NBN):c.721G>A (p.Ala241Thr) rs587781333
NM_002485.4(NBN):c.727G>C (p.Val243Leu) rs786203253
NM_002485.4(NBN):c.731T>C (p.Phe244Ser)
NM_002485.4(NBN):c.73G>A (p.Val25Ile) rs587781748
NM_002485.4(NBN):c.73G>T (p.Val25Phe)
NM_002485.4(NBN):c.750G>T (p.Arg250Ser) rs758852942
NM_002485.4(NBN):c.757A>G (p.Thr253Ala) rs765602971
NM_002485.4(NBN):c.767A>G (p.Asn256Ser) rs1554563994
NM_002485.4(NBN):c.769G>A (p.Glu257Lys) rs878854516
NM_002485.4(NBN):c.76G>T (p.Val26Phe)
NM_002485.4(NBN):c.772G>C (p.Glu258Gln) rs922057169
NM_002485.4(NBN):c.773A>G (p.Glu258Gly) rs786203380
NM_002485.4(NBN):c.775G>A (p.Glu259Lys) rs201559159
NM_002485.4(NBN):c.77T>C (p.Val26Ala)
NM_002485.4(NBN):c.783T>G (p.Asn261Lys) rs375336614
NM_002485.4(NBN):c.786C>A (p.Phe262Leu) rs372159380
NM_002485.4(NBN):c.787T>A (p.Phe263Ile) rs1554563966
NM_002485.4(NBN):c.788T>C (p.Phe263Ser) rs147626427
NM_002485.4(NBN):c.794C>T (p.Ala265Val) rs61612852
NM_002485.4(NBN):c.796C>T (p.Pro266Ser) rs762956906
NM_002485.4(NBN):c.798G>A (p.Pro266=) rs368786672
NM_002485.4(NBN):c.803C>T (p.Thr268Met) rs535602436
NM_002485.4(NBN):c.806G>A (p.Cys269Tyr) rs768822147
NM_002485.4(NBN):c.806G>C (p.Cys269Ser)
NM_002485.4(NBN):c.806G>T (p.Cys269Phe)
NM_002485.4(NBN):c.80G>T (p.Gly27Val) rs755171159
NM_002485.4(NBN):c.811G>A (p.Val271Ile) rs876659388
NM_002485.4(NBN):c.818C>T (p.Thr273Ile) rs1554563912
NM_002485.4(NBN):c.826A>T (p.Thr276Ser) rs1554563895
NM_002485.4(NBN):c.827C>G (p.Thr276Arg) rs864622304
NM_002485.4(NBN):c.832T>G (p.Ser278Ala) rs1225178489
NM_002485.4(NBN):c.835C>G (p.Gln279Glu)
NM_002485.4(NBN):c.836A>C (p.Gln279Pro) rs864622116
NM_002485.4(NBN):c.83G>A (p.Arg28Lys) rs876658581
NM_002485.4(NBN):c.848C>A (p.Pro283His) rs1554563853
NM_002485.4(NBN):c.851A>G (p.Asp284Gly)
NM_002485.4(NBN):c.853T>G (p.Cys285Gly) rs1563559186
NM_002485.4(NBN):c.854G>C (p.Cys285Ser) rs863224715
NM_002485.4(NBN):c.865T>A (p.Trp289Arg) rs1563559145
NM_002485.4(NBN):c.865T>G (p.Trp289Gly) rs1563559145
NM_002485.4(NBN):c.867G>T (p.Trp289Cys) rs1060503475
NM_002485.4(NBN):c.86A>G (p.Lys29Arg) rs1554569112
NM_002485.4(NBN):c.872A>G (p.Gln291Arg) rs587778547
NM_002485.4(NBN):c.874T>C (p.Ser292Pro) rs876660700
NM_002485.4(NBN):c.880A>T (p.Met294Leu) rs746381477
NM_002485.4(NBN):c.884A>C (p.Asp295Ala) rs1208423434
NM_002485.4(NBN):c.884A>T (p.Asp295Val) rs1208423434
NM_002485.4(NBN):c.895A>C (p.Arg299=) rs1554563784
NM_002485.4(NBN):c.896+3A>T
NM_002485.4(NBN):c.897-11_897-6delTATTCT
NM_002485.4(NBN):c.897G>A (p.Arg299=)
NM_002485.4(NBN):c.901G>C (p.Gly301Arg) rs1280333137
NM_002485.4(NBN):c.911C>G (p.Pro304Arg) rs536965870
NM_002485.4(NBN):c.911C>T (p.Pro304Leu) rs536965870
NM_002485.4(NBN):c.913A>C (p.Ile305Leu) rs1554562189
NM_002485.4(NBN):c.917C>T (p.Pro306Leu)
NM_002485.4(NBN):c.919G>C (p.Glu307Gln) rs1554562182
NM_002485.4(NBN):c.923C>G (p.Ala308Gly) rs1554562176
NM_002485.4(NBN):c.925G>A (p.Glu309Lys) rs587780101
NM_002485.4(NBN):c.929T>C (p.Ile310Thr) rs753812768
NM_002485.4(NBN):c.92G>A (p.Cys31Tyr) rs1377520302
NM_002485.4(NBN):c.92G>C (p.Cys31Ser)
NM_002485.4(NBN):c.932G>A (p.Gly311Glu) rs1563548856
NM_002485.4(NBN):c.935T>C (p.Leu312Ser) rs371480039
NM_002485.4(NBN):c.937G>T (p.Ala313Ser) rs876660584
NM_002485.4(NBN):c.938C>T (p.Ala313Val) rs730881862
NM_002485.4(NBN):c.940G>A (p.Val314Met) rs529845940
NM_002485.4(NBN):c.941T>A (p.Val314Glu)
NM_002485.4(NBN):c.943A>G (p.Ile315Val) rs878854517
NM_002485.4(NBN):c.949A>G (p.Met317Val) rs587782502
NM_002485.4(NBN):c.949A>T (p.Met317Leu) rs587782502
NM_002485.4(NBN):c.955A>G (p.Thr319Ala) rs876659969
NM_002485.4(NBN):c.964T>G (p.Tyr322Asp) rs1554562123
NM_002485.4(NBN):c.976C>G (p.Gln326Glu)
NM_002485.4(NBN):c.97A>G (p.Ile33Val) rs1563584435
NM_002485.4(NBN):c.980G>T (p.Gly327Val)
NM_002485.4(NBN):c.983A>G (p.His328Arg) rs1554562099
NM_002485.4(NBN):c.988A>G (p.Ser330Gly) rs1554562092
NM_002485.4(NBN):c.993A>G (p.Thr331=) rs876659523
NM_002485.4(NBN):c.994+5T>C rs778254433
NM_002485.4(NBN):c.999_1000insGAAAGA (p.Lys334_Thr335insGluArg)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.