ClinVar Miner

List of variants studied for BAP1-related tumor predisposition syndrome by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (1):
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Total variants: 73
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HGVS dbSNP
NM_004656.4(BAP1):c.*1064C>T rs886058700
NM_004656.4(BAP1):c.*1164G>C rs376927338
NM_004656.4(BAP1):c.*1164G>T
NM_004656.4(BAP1):c.*222G>C rs886058704
NM_004656.4(BAP1):c.*292G>A
NM_004656.4(BAP1):c.*300A>G
NM_004656.4(BAP1):c.*350C>A
NM_004656.4(BAP1):c.*36C>T
NM_004656.4(BAP1):c.*37G>A rs139307137
NM_004656.4(BAP1):c.*385A>T
NM_004656.4(BAP1):c.*392C>T
NM_004656.4(BAP1):c.*441G>T
NM_004656.4(BAP1):c.*444C>T rs123598
NM_004656.4(BAP1):c.*45C>G rs56898787
NM_004656.4(BAP1):c.*485G>T rs886058703
NM_004656.4(BAP1):c.*552C>A rs886058702
NM_004656.4(BAP1):c.*557C>T
NM_004656.4(BAP1):c.*573G>A
NM_004656.4(BAP1):c.*60C>T rs564062251
NM_004656.4(BAP1):c.*643G>A rs374367093
NM_004656.4(BAP1):c.*697G>A rs766301450
NM_004656.4(BAP1):c.*750A>G
NM_004656.4(BAP1):c.*770T>C
NM_004656.4(BAP1):c.*808T>C
NM_004656.4(BAP1):c.*830T>C rs886058701
NM_004656.4(BAP1):c.*847C>T
NM_004656.4(BAP1):c.*876C>T
NM_004656.4(BAP1):c.*974C>T rs9855479
NM_004656.4(BAP1):c.-10C>T rs200018055
NM_004656.4(BAP1):c.-68C>T
NM_004656.4(BAP1):c.1002A>G (p.Leu334=) rs28997577
NM_004656.4(BAP1):c.1026C>T (p.Ser342=) rs71651686
NM_004656.4(BAP1):c.1035G>C (p.Gly345=) rs369744075
NM_004656.4(BAP1):c.1202_1203del (p.Asp400_Tyr401insTer) rs886058705
NM_004656.4(BAP1):c.121G>A (p.Gly41Ser) rs372586694
NM_004656.4(BAP1):c.1250+2T>G rs1559587582
NM_004656.4(BAP1):c.1268C>A (p.Thr423Lys) rs115109161
NM_004656.4(BAP1):c.1291G>A (p.Gly431Ser) rs915913191
NM_004656.4(BAP1):c.1338C>T (p.Asn446=) rs763735807
NM_004656.4(BAP1):c.1407C>T (p.Ser469=) rs150524807
NM_004656.4(BAP1):c.1413T>G (p.Ala471=) rs34736117
NM_004656.4(BAP1):c.1427T>C (p.Val476Ala) rs144060813
NM_004656.4(BAP1):c.1497C>T (p.Ile499=) rs777417522
NM_004656.4(BAP1):c.1710G>C (p.Leu570=)
NM_004656.4(BAP1):c.1729+8T>C rs150945583
NM_004656.4(BAP1):c.1735G>A (p.Gly579Arg) rs370004702
NM_004656.4(BAP1):c.1749G>A (p.Ser583=) rs147775249
NM_004656.4(BAP1):c.177G>A (p.Arg59=) rs770446947
NM_004656.4(BAP1):c.1786A>G (p.Ser596Gly) rs79014342
NM_004656.4(BAP1):c.1791C>T (p.Ser597=) rs751730111
NM_004656.4(BAP1):c.1838C>T (p.Thr613Met) rs35448940
NM_004656.4(BAP1):c.1962A>C (p.Val654=) rs148624125
NM_004656.4(BAP1):c.2057-4G>T rs149499021
NM_004656.4(BAP1):c.2175G>A (p.Lys725=) rs760537008
NM_004656.4(BAP1):c.2183G>C (p.Arg728Pro) rs773230722
NM_004656.4(BAP1):c.255+11C>T
NM_004656.4(BAP1):c.288G>A (p.Leu96=) rs117382883
NM_004656.4(BAP1):c.294C>T (p.Ser98=) rs140641333
NM_004656.4(BAP1):c.341G>A (p.Arg114His) rs773494626
NM_004656.4(BAP1):c.501G>A (p.Ala167=) rs148631953
NM_004656.4(BAP1):c.534C>T (p.Gly178=) rs200285587
NM_004656.4(BAP1):c.581-4C>T
NM_004656.4(BAP1):c.581-6C>T rs754576458
NM_004656.4(BAP1):c.74A>G (p.Lys25Arg) rs759337168
NM_004656.4(BAP1):c.783+11T>C
NM_004656.4(BAP1):c.783G>A (p.Gln261=) rs35003777
NM_004656.4(BAP1):c.821A>C (p.His274Pro) rs565400314
NM_004656.4(BAP1):c.878C>T (p.Pro293Leu) rs777664260
NM_004656.4(BAP1):c.908C>T (p.Ala303Val) rs753460994
NM_004656.4(BAP1):c.912C>A (p.Ala304=) rs201809705
NM_004656.4(BAP1):c.931+10G>C rs199560386
NM_004656.4(BAP1):c.947C>T (p.Ala316Val) rs1365625070
NM_004656.4(BAP1):c.960C>T (p.Cys320=) rs143659795

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