ClinVar Miner

List of variants reported as uncertain significance for BAP1-related tumor predisposition syndrome by Baylor Genetics

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 122
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HGVS dbSNP gnomAD frequency
NM_004656.4(BAP1):c.1609A>G (p.Ser537Gly) rs747109385 0.00009
NM_004656.4(BAP1):c.1031A>G (p.Asn344Ser) rs142887785 0.00005
NM_004656.4(BAP1):c.1045A>G (p.Asn349Asp) rs765742255 0.00004
NM_004656.4(BAP1):c.1147C>T (p.Arg383Cys) rs201844078 0.00004
NM_004656.4(BAP1):c.1442A>G (p.His481Arg) rs150441842 0.00004
NM_004656.4(BAP1):c.206C>T (p.Thr69Met) rs572063023 0.00004
NM_004656.4(BAP1):c.916G>A (p.Glu306Lys) rs779566198 0.00004
NM_004656.4(BAP1):c.1058T>C (p.Ile353Thr) rs754217069 0.00003
NM_004656.4(BAP1):c.1066C>T (p.Arg356Trp) rs761029538 0.00003
NM_004656.4(BAP1):c.1073C>T (p.Pro358Leu) rs773379358 0.00003
NM_004656.4(BAP1):c.1217A>T (p.Glu406Val) rs535695655 0.00003
NM_004656.4(BAP1):c.1218G>T (p.Glu406Asp) rs752703914 0.00003
NM_004656.4(BAP1):c.1249A>G (p.Arg417Gly) rs767064896 0.00003
NM_004656.4(BAP1):c.1291G>A (p.Gly431Ser) rs915913191 0.00003
NM_004656.4(BAP1):c.1339G>A (p.Val447Ile) rs762654322 0.00003
NM_004656.4(BAP1):c.1049C>T (p.Pro350Leu) rs1454833874 0.00002
NM_004656.4(BAP1):c.1225G>A (p.Val409Met) rs756443059 0.00002
NM_004656.4(BAP1):c.1251-11G>A rs981419588 0.00002
NM_004656.4(BAP1):c.1441C>A (p.His481Asn) rs764816701 0.00002
NM_004656.4(BAP1):c.1807G>A (p.Val603Ile) rs1329653090 0.00002
NM_004656.4(BAP1):c.1843A>G (p.Met615Val) rs1183229867 0.00002
NM_004656.4(BAP1):c.340C>T (p.Arg114Cys) rs761048859 0.00002
NM_004656.4(BAP1):c.358A>G (p.Lys120Glu) rs774573926 0.00002
NM_004656.4(BAP1):c.995C>T (p.Pro332Leu) rs772070350 0.00002
NM_004656.4(BAP1):c.1052C>T (p.Thr351Ile) rs1291142030 0.00001
NM_004656.4(BAP1):c.1154G>A (p.Arg385Gln) rs765258055 0.00001
NM_004656.4(BAP1):c.1165C>T (p.Arg389Cys) rs373809972 0.00001
NM_004656.4(BAP1):c.1166G>A (p.Arg389His) rs770778299 0.00001
NM_004656.4(BAP1):c.1208A>G (p.Asp403Gly) rs746308215 0.00001
NM_004656.4(BAP1):c.1210G>A (p.Asp404Asn) rs1035262201 0.00001
NM_004656.4(BAP1):c.1238A>C (p.Asn413Thr) rs1231899667 0.00001
NM_004656.4(BAP1):c.1331C>T (p.Thr444Ile) rs1290996849 0.00001
NM_004656.4(BAP1):c.1349A>G (p.Glu450Gly) rs1459047463 0.00001
NM_004656.4(BAP1):c.1385C>T (p.Pro462Leu) rs772505081 0.00001
NM_004656.4(BAP1):c.1393A>G (p.Ile465Val) rs150029305 0.00001
NM_004656.4(BAP1):c.1495A>G (p.Ile499Val) rs775760293 0.00001
NM_004656.4(BAP1):c.1498G>A (p.Gly500Ser) rs1378012462 0.00001
NM_004656.4(BAP1):c.1512C>G (p.Asn504Lys) rs1228626983 0.00001
NM_004656.4(BAP1):c.1553G>A (p.Arg518Gln) rs535796204 0.00001
NM_004656.4(BAP1):c.1633C>T (p.Arg545Cys) rs778628881 0.00001
NM_004656.4(BAP1):c.1669A>G (p.Ile557Val) rs776549962 0.00001
NM_004656.4(BAP1):c.1751C>A (p.Pro584His) rs374877744 0.00001
NM_004656.4(BAP1):c.1769A>T (p.Gln590Leu) rs756472919 0.00001
NM_004656.4(BAP1):c.1858G>A (p.Glu620Lys) rs758585834 0.00001
NM_004656.4(BAP1):c.1995G>T (p.Gln665His) rs1705000474 0.00001
NM_004656.4(BAP1):c.2185C>T (p.Gln729Ter) rs1412940366 0.00001
NM_004656.4(BAP1):c.227T>C (p.Ile76Thr) rs1221534458 0.00001
NM_004656.4(BAP1):c.250C>T (p.His84Tyr) rs1338231889 0.00001
NM_004656.4(BAP1):c.262C>A (p.Pro88Thr) rs1304265975 0.00001
NM_004656.4(BAP1):c.332C>T (p.Thr111Ile) rs527433244 0.00001
NM_004656.4(BAP1):c.660-14G>A rs755235127 0.00001
NM_004656.4(BAP1):c.722A>G (p.Tyr241Cys) rs367867008 0.00001
NM_004656.4(BAP1):c.783+2T>C rs774730309 0.00001
NM_004656.4(BAP1):c.787A>G (p.Ile263Val) rs370841382 0.00001
NM_004656.4(BAP1):c.791G>C (p.Arg264Thr) rs978943999 0.00001
NM_004656.4(BAP1):c.1028T>C (p.Leu343Pro) rs1311383282
NM_004656.4(BAP1):c.1042C>T (p.Pro348Ser) rs1250297448
NM_004656.4(BAP1):c.1064A>G (p.Gln355Arg) rs979746353
NM_004656.4(BAP1):c.1117G>A (p.Glu373Lys)
NM_004656.4(BAP1):c.1135G>A (p.Ala379Thr)
NM_004656.4(BAP1):c.1168C>A (p.Pro390Thr) rs1425178905
NM_004656.4(BAP1):c.1189_1200dup (p.Asp400_Tyr401insAspGluAspAsp)
NM_004656.4(BAP1):c.1201_1212del (p.Tyr401_Asp404del) rs776606194
NM_004656.4(BAP1):c.1202A>G (p.Tyr401Cys) rs1553645130
NM_004656.4(BAP1):c.1214_1225del (p.Glu405_Asp408del) rs1553645109
NM_004656.4(BAP1):c.1217A>C (p.Glu406Ala) rs535695655
NM_004656.4(BAP1):c.1235C>T (p.Thr412Ile) rs760363108
NM_004656.4(BAP1):c.125C>T (p.Pro42Leu) rs1705241156
NM_004656.4(BAP1):c.1280G>A (p.Gly427Glu) rs761183483
NM_004656.4(BAP1):c.1292G>A (p.Gly431Asp)
NM_004656.4(BAP1):c.1295C>G (p.Ser432Cys) rs866182083
NM_004656.4(BAP1):c.1330A>C (p.Thr444Pro)
NM_004656.4(BAP1):c.1337A>C (p.Asn446Thr) rs751399960
NM_004656.4(BAP1):c.1337A>G (p.Asn446Ser) rs751399960
NM_004656.4(BAP1):c.1414G>A (p.Gly472Arg) rs1705052598
NM_004656.4(BAP1):c.1432G>A (p.Val478Met) rs1559586864
NM_004656.4(BAP1):c.1460C>T (p.Thr487Ile)
NM_004656.4(BAP1):c.1523G>A (p.Arg508His) rs1553644908
NM_004656.4(BAP1):c.1535G>A (p.Arg512His) rs778596308
NM_004656.4(BAP1):c.1535G>T (p.Arg512Leu) rs778596308
NM_004656.4(BAP1):c.1541C>G (p.Ala514Gly)
NM_004656.4(BAP1):c.1555C>G (p.Pro519Ala)
NM_004656.4(BAP1):c.1565C>T (p.Pro522Leu)
NM_004656.4(BAP1):c.1571C>A (p.Thr524Asn) rs1559586598
NM_004656.4(BAP1):c.1581C>G (p.Ile527Met)
NM_004656.4(BAP1):c.1604A>G (p.Asp535Gly)
NM_004656.4(BAP1):c.160G>A (p.Glu54Lys) rs199564379
NM_004656.4(BAP1):c.1616T>G (p.Leu539Arg) rs1553644856
NM_004656.4(BAP1):c.1648G>A (p.Val550Ile)
NM_004656.4(BAP1):c.1756A>C (p.Ile586Leu) rs1553644740
NM_004656.4(BAP1):c.1763C>G (p.Pro588Arg) rs780338105
NM_004656.4(BAP1):c.1780G>C (p.Gly594Arg) rs1559586025
NM_004656.4(BAP1):c.17T>C (p.Leu6Pro) rs2153228689
NM_004656.4(BAP1):c.1801_1805delinsGAGGT (p.Lys601_Glu602delinsGluVal) rs1060503748
NM_004656.4(BAP1):c.1806G>C (p.Glu602Asp) rs759423683
NM_004656.4(BAP1):c.184G>C (p.Val62Leu) rs759957857
NM_004656.4(BAP1):c.184G>T (p.Val62Phe) rs759957857
NM_004656.4(BAP1):c.1873G>A (p.Glu625Lys) rs1482404545
NM_004656.4(BAP1):c.1926G>C (p.Glu642Asp) rs1386810597
NM_004656.4(BAP1):c.2005C>T (p.His669Tyr) rs762288547
NM_004656.4(BAP1):c.2061G>A (p.Met687Ile)
NM_004656.4(BAP1):c.2153G>A (p.Arg718Gln) rs1440748203
NM_004656.4(BAP1):c.2183G>T (p.Arg728Leu) rs773230722
NM_004656.4(BAP1):c.223G>A (p.Asp75Asn)
NM_004656.4(BAP1):c.284C>G (p.Ala95Gly)
NM_004656.4(BAP1):c.341G>C (p.Arg114Pro)
NM_004656.4(BAP1):c.385T>C (p.Tyr129His) rs1705203099
NM_004656.4(BAP1):c.457C>T (p.Pro153Ser)
NM_004656.4(BAP1):c.4A>T (p.Asn2Tyr)
NM_004656.4(BAP1):c.518A>G (p.Tyr173Cys)
NM_004656.4(BAP1):c.55G>A (p.Val19Met) rs745359087
NM_004656.4(BAP1):c.67G>A (p.Gly23Ser) rs1578230869
NM_004656.4(BAP1):c.68G>C (p.Gly23Ala)
NM_004656.4(BAP1):c.695C>G (p.Ala232Gly)
NM_004656.4(BAP1):c.736C>G (p.His246Asp) rs999764581
NM_004656.4(BAP1):c.769G>C (p.Glu257Gln)
NM_004656.4(BAP1):c.840G>T (p.Gln280His) rs2153227258
NM_004656.4(BAP1):c.890A>C (p.Glu297Ala)
NM_004656.4(BAP1):c.904C>G (p.Pro302Ala) rs1172088152
NM_004656.4(BAP1):c.907G>A (p.Ala303Thr) rs754740693
NM_004656.4(BAP1):c.932-151G>A rs1705120040
NM_004656.4(BAP1):c.985C>T (p.Pro329Ser) rs1559588585

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