ClinVar Miner

List of variants in gene CBL studied for RASopathy

Included ClinVar conditions (55):
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Gene type:
ClinVar version:
Total variants: 177
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HGVS dbSNP
CBL, IVS8AS, A-G, -2
NM_005188.2:c.1227+20insC
NM_005188.2:c.1227+2_1227+3delTACinsAAG
NM_005188.2:c.1228-10insT
NM_005188.3(CBL):c.1033C>G (p.Gln345Glu) rs202095002
NM_005188.3(CBL):c.1043A>G (p.Asp348Gly)
NM_005188.3(CBL):c.1074A>G (p.Gln358=) rs1060500678
NM_005188.3(CBL):c.1076_1087del (p.Asp359_Lys362del) rs397507490
NM_005188.3(CBL):c.107_109ACC[6] (p.His42del) rs373212940
NM_005188.3(CBL):c.107_109ACC[8] (p.His42dup) rs373212940
NM_005188.3(CBL):c.107_109ACC[9] (p.His41_His42dup) rs373212940
NM_005188.3(CBL):c.1088T>G (p.Val363Gly)
NM_005188.3(CBL):c.108C>G (p.His36Gln)
NM_005188.3(CBL):c.1095+19G>T rs2510152
NM_005188.3(CBL):c.1096-1G>C rs397517076
NM_005188.3(CBL):c.1096-1G>T rs397517076
NM_005188.3(CBL):c.1096-4_1096-1del rs397517077
NM_005188.3(CBL):c.1099C>A (p.Gln367Lys) rs727504504
NM_005188.3(CBL):c.1099_1101del (p.Gln367del) rs1555230070
NM_005188.3(CBL):c.1100A>C (p.Gln367Pro) rs267606704
NM_005188.3(CBL):c.1111T>C (p.Tyr371His) rs267606706
NM_005188.3(CBL):c.1112A>C (p.Tyr371Ser) rs387906666
NM_005188.3(CBL):c.1112A>G (p.Tyr371Cys) rs387906666
NM_005188.3(CBL):c.1137A>G (p.Gln379=)
NM_005188.3(CBL):c.1139T>C (p.Leu380Pro) rs1377506801
NM_005188.3(CBL):c.1141T>C (p.Cys381Arg) rs757874631
NM_005188.3(CBL):c.1144A>G (p.Lys382Glu) rs267606705
NM_005188.3(CBL):c.1150T>C (p.Cys384Arg) rs387906664
NM_005188.3(CBL):c.1156G>A (p.Glu386Lys)
NM_005188.3(CBL):c.1165A>G (p.Lys389Glu) rs1060500676
NM_005188.3(CBL):c.1167G>T (p.Lys389Asn)
NM_005188.3(CBL):c.1168G>T (p.Asp390Tyr) rs267606707
NM_005188.3(CBL):c.1186T>C (p.Cys396Arg) rs387906665
NM_005188.3(CBL):c.1202G>T (p.Cys401Phe)
NM_005188.3(CBL):c.120C>T (p.His40=) rs745328496
NM_005188.3(CBL):c.1227+2_1227+4delinsAAG rs397507493
NM_005188.3(CBL):c.1227+4C>T rs201747825
NM_005188.3(CBL):c.1228-2A>G rs727504426
NM_005188.3(CBL):c.1259G>A (p.Arg420Gln) rs267606708
NM_005188.3(CBL):c.125A>T (p.His42Leu) rs730880433
NM_005188.3(CBL):c.1263T>G (p.Cys421Trp)
NM_005188.3(CBL):c.1277C>T (p.Thr426Ile) rs769547118
NM_005188.3(CBL):c.127_129dup (p.Leu43dup) rs1555225106
NM_005188.3(CBL):c.1287C>T (p.Ile429=) rs148368481
NM_005188.3(CBL):c.1288G>A (p.Val430Met)
NM_005188.3(CBL):c.1290G>A (p.Val430=) rs1060503996
NM_005188.3(CBL):c.1296T>C (p.Asp432=) rs1188095865
NM_005188.3(CBL):c.1299G>A (p.Pro433=) rs199633558
NM_005188.3(CBL):c.12C>T (p.Asn4=) rs371567712
NM_005188.3(CBL):c.1319G>T (p.Gly440Val)
NM_005188.3(CBL):c.1324C>A (p.Leu442Met) rs200508558
NM_005188.3(CBL):c.1346del (p.Gly449fs)
NM_005188.3(CBL):c.1359A>C (p.Pro453=) rs34732429
NM_005188.3(CBL):c.1364A>G (p.Tyr455Cys) rs1565872426
NM_005188.3(CBL):c.1365_1367TGA[5] (p.Asp460del) rs397507494
NM_005188.3(CBL):c.1365_1367TGA[7] (p.Asp460dup) rs397507494
NM_005188.3(CBL):c.1394A>T (p.Asp465Val)
NM_005188.3(CBL):c.1423G>A (p.Gly475Ser) rs764599897
NM_005188.3(CBL):c.1432-10T>C
NM_005188.3(CBL):c.1443G>T (p.Pro481=) rs768111719
NM_005188.3(CBL):c.1459A>G (p.Met487Val) rs17848896
NM_005188.3(CBL):c.1460T>C (p.Met487Thr)
NM_005188.3(CBL):c.1463C>T (p.Ala488Val) rs377502790
NM_005188.3(CBL):c.1477C>T (p.Leu493Phe) rs730880434
NM_005188.3(CBL):c.1485G>A (p.Pro495=) rs2229072
NM_005188.3(CBL):c.1495C>A (p.Arg499=) rs778927765
NM_005188.3(CBL):c.1511C>T (p.Pro504Leu) rs533554769
NM_005188.3(CBL):c.1528C>G (p.Pro510Ala) rs538054260
NM_005188.3(CBL):c.1552A>G (p.Thr518Ala) rs377734587
NM_005188.3(CBL):c.1564-3C>T rs1555230585
NM_005188.3(CBL):c.1566T>C (p.Ala522=) rs371065029
NM_005188.3(CBL):c.1629A>G (p.Pro543=) rs558577411
NM_005188.3(CBL):c.1641T>C (p.Pro547=) rs61755280
NM_005188.3(CBL):c.1647C>A (p.Asp549Glu) rs369030902
NM_005188.3(CBL):c.1676G>A (p.Arg559Gln)
NM_005188.3(CBL):c.1694T>C (p.Leu565Ser) rs1174693367
NM_005188.3(CBL):c.1711G>A (p.Asp571Asn) rs483352825
NM_005188.3(CBL):c.1753C>T (p.Arg585Cys) rs187952822
NM_005188.3(CBL):c.1754G>A (p.Arg585His) rs727504640
NM_005188.3(CBL):c.1754G>T (p.Arg585Leu) rs727504640
NM_005188.3(CBL):c.1765T>C (p.Ser589Pro) rs1555230612
NM_005188.3(CBL):c.1771C>G (p.Leu591Val) rs1060500679
NM_005188.3(CBL):c.1788C>G (p.Pro596=) rs1060503995
NM_005188.3(CBL):c.1790A>G (p.Lys597Arg)
NM_005188.3(CBL):c.1793T>A (p.Val598Glu) rs1060500675
NM_005188.3(CBL):c.1795C>A (p.Pro599Thr) rs1340017837
NM_005188.3(CBL):c.1810A>G (p.Ser604Gly) rs1555230616
NM_005188.3(CBL):c.1847A>C (p.Asn616Thr)
NM_005188.3(CBL):c.1850G>A (p.Arg617Gln)
NM_005188.3(CBL):c.1850G>T (p.Arg617Leu) rs780457588
NM_005188.3(CBL):c.1858C>T (p.Leu620Phe) rs2227988
NM_005188.3(CBL):c.1871T>C (p.Leu624Ser) rs150550899
NM_005188.3(CBL):c.1891A>G (p.Arg631Gly) rs552590011
NM_005188.3(CBL):c.1920G>A (p.Thr640=) rs202158626
NM_005188.3(CBL):c.1927C>T (p.Leu643=) rs139939244
NM_005188.3(CBL):c.1942-4C>T rs776366304
NM_005188.3(CBL):c.1942A>C (p.Ser648Arg) rs143264567
NM_005188.3(CBL):c.1945A>G (p.Met649Val) rs769423231
NM_005188.3(CBL):c.195+10C>A rs878854755
NM_005188.3(CBL):c.1957C>T (p.Pro653Ser)
NM_005188.3(CBL):c.2017A>G (p.Ile673Val) rs1439055502
NM_005188.3(CBL):c.202C>T (p.Arg68Trp) rs730880429
NM_005188.3(CBL):c.2036+9G>T rs142704935
NM_005188.3(CBL):c.2052A>C (p.Pro684=) rs886047771
NM_005188.3(CBL):c.2055A>G (p.Lys685=) rs1454595224
NM_005188.3(CBL):c.2060C>T (p.Pro687Leu) rs146705974
NM_005188.3(CBL):c.2083G>A (p.Glu695Lys) rs143975631
NM_005188.3(CBL):c.2097G>A (p.Glu699=) rs1057519031
NM_005188.3(CBL):c.2153G>A (p.Arg718Gln) rs144894769
NM_005188.3(CBL):c.2189C>T (p.Thr730Met) rs376848406
NM_005188.3(CBL):c.2190G>C (p.Thr730=) rs143840974
NM_005188.3(CBL):c.2216C>T (p.Ser739Phe) rs2227986
NM_005188.3(CBL):c.2222C>T (p.Ala741Val)
NM_005188.3(CBL):c.2223G>A (p.Ala741=) rs202229538
NM_005188.3(CBL):c.2251+9C>A rs1439660465
NM_005188.3(CBL):c.2269G>A (p.Ala757Thr) rs146517083
NM_005188.3(CBL):c.227C>T (p.Ala76Val)
NM_005188.3(CBL):c.2312A>T (p.Asp771Val) rs199788586
NM_005188.3(CBL):c.2316T>G (p.Asp772Glu) rs774428573
NM_005188.3(CBL):c.2337A>G (p.Pro779=) rs1042340033
NM_005188.3(CBL):c.2338C>T (p.Pro780Ser) rs1555027886
NM_005188.3(CBL):c.2345C>T (p.Pro782Leu) rs2229073
NM_005188.3(CBL):c.2350G>A (p.Val784Met) rs140725852
NM_005188.3(CBL):c.2359C>T (p.Arg787Cys) rs143132980
NM_005188.3(CBL):c.2360G>A (p.Arg787His) rs200220863
NM_005188.3(CBL):c.2363G>A (p.Arg788Gln) rs150811339
NM_005188.3(CBL):c.2390G>C (p.Ser797Thr) rs747073805
NM_005188.3(CBL):c.2393C>T (p.Ser798Phe) rs587778158
NM_005188.3(CBL):c.23G>A (p.Ser8Asn) rs930860175
NM_005188.3(CBL):c.2414_2416dup (p.Asp806_Gly807insVal) rs777761446
NM_005188.3(CBL):c.243A>G (p.Pro81=) rs863224399
NM_005188.3(CBL):c.2458C>G (p.Pro820Ala) rs1356499832
NM_005188.3(CBL):c.2461G>A (p.Glu821Lys)
NM_005188.3(CBL):c.2484G>A (p.Pro828=) rs149533467
NM_005188.3(CBL):c.248A>G (p.Tyr83Cys) rs1555226659
NM_005188.3(CBL):c.2513G>T (p.Gly838Val) rs144191570
NM_005188.3(CBL):c.2519G>C (p.Cys840Ser) rs376536789
NM_005188.3(CBL):c.2520T>G (p.Cys840Trp)
NM_005188.3(CBL):c.2537C>T (p.Pro846Leu) rs771831548
NM_005188.3(CBL):c.2542G>A (p.Ala848Thr) rs141710973
NM_005188.3(CBL):c.2588A>G (p.Asn863Ser) rs146250423
NM_005188.3(CBL):c.2592C>T (p.Leu864=) rs1893177
NM_005188.3(CBL):c.2614C>G (p.Gln872Glu)
NM_005188.3(CBL):c.2666A>G (p.Lys889Arg) rs1369884955
NM_005188.3(CBL):c.2691C>T (p.Ser897=) rs762560254
NM_005188.3(CBL):c.2692A>G (p.Ile898Val) rs397507499
NM_005188.3(CBL):c.269A>G (p.Asp90Gly) rs1555226661
NM_005188.3(CBL):c.2710G>A (p.Val904Ile) rs17122769
NM_005188.3(CBL):c.292A>G (p.Ile98Val) rs1415440583
NM_005188.3(CBL):c.328G>A (p.Gly110Arg) rs1565859798
NM_005188.3(CBL):c.405G>C (p.Glu135Asp) rs1057519030
NM_005188.3(CBL):c.40G>A (p.Gly14Ser) rs1565851542
NM_005188.3(CBL):c.419T>G (p.Met140Arg) rs1555226684
NM_005188.3(CBL):c.43_44delinsCC (p.Ser15Pro) rs1555225091
NM_005188.3(CBL):c.444-9C>T rs892852052
NM_005188.3(CBL):c.446G>A (p.Arg149Gln)
NM_005188.3(CBL):c.493C>G (p.Leu165Val) rs1555229540
NM_005188.3(CBL):c.498A>C (p.Lys166Asn) rs1565870421
NM_005188.3(CBL):c.513T>C (p.Ser171=) rs2227987
NM_005188.3(CBL):c.591-8C>G rs749291716
NM_005188.3(CBL):c.60G>T (p.Ser20=) rs758583427
NM_005188.3(CBL):c.625C>G (p.Leu209Val) rs767162260
NM_005188.3(CBL):c.66G>A (p.Ser22=) rs1555225100
NM_005188.3(CBL):c.6C>G (p.Ala2=) rs770473070
NM_005188.3(CBL):c.728T>C (p.Ile243Thr) rs1268100574
NM_005188.3(CBL):c.747+3A>G
NM_005188.3(CBL):c.748-3T>C rs1060500677
NM_005188.3(CBL):c.768G>A (p.Arg256=) rs1555229786
NM_005188.3(CBL):c.801C>G (p.Gly267=) rs727502913
NM_005188.3(CBL):c.80G>T (p.Gly27Val) rs933058944
NM_005188.3(CBL):c.838C>T (p.Arg280Trp)
NM_005188.3(CBL):c.869+19A>G rs181589369
NM_005188.3(CBL):c.869+4A>G rs77284821
NM_005188.3(CBL):c.873T>C (p.Tyr291=) rs756526812
NM_005188.3(CBL):c.895C>T (p.Arg299Cys) rs1053471259
NM_005188.3(CBL):c.93C>A (p.Asp31Glu) rs376679438
NM_005188.4(CBL):c.1096-2A>T

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