ClinVar Miner

List of variants in gene CBL studied for Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia

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Gene type:
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Total variants: 187
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HGVS dbSNP
NC_000011.10:g.119206335C>T
NM_005188.3(CBL):c.*1158A>G rs560822342
NM_005188.3(CBL):c.*1258G>A rs886047777
NM_005188.3(CBL):c.*1447A>G rs148077385
NM_005188.3(CBL):c.*1487A>G rs780157945
NM_005188.3(CBL):c.*1594T>A rs193152909
NM_005188.3(CBL):c.*1661G>T rs886047778
NM_005188.3(CBL):c.*1686A>C rs147266033
NM_005188.3(CBL):c.*1711T>C rs886047779
NM_005188.3(CBL):c.*1733T>G rs190569484
NM_005188.3(CBL):c.*1856T>C rs75631490
NM_005188.3(CBL):c.*1884C>T rs772494648
NM_005188.3(CBL):c.*1915T>C rs1918
NM_005188.3(CBL):c.*1918C>T rs528450894
NM_005188.3(CBL):c.*1933C>T rs529781104
NM_005188.3(CBL):c.*1965G>A rs886047781
NM_005188.3(CBL):c.*2045A>G rs1047417
NM_005188.3(CBL):c.*2137C>T rs886047783
NM_005188.3(CBL):c.*2176T>C rs143211426
NM_005188.3(CBL):c.*2224A>G rs550910545
NM_005188.3(CBL):c.*239A>G rs140332874
NM_005188.3(CBL):c.*2423C>T rs117804312
NM_005188.3(CBL):c.*2554G>C rs886047784
NM_005188.3(CBL):c.*2619C>T rs147497664
NM_005188.3(CBL):c.*2697C>T rs118116976
NM_005188.3(CBL):c.*282C>G rs886047773
NM_005188.3(CBL):c.*3026C>T rs886047786
NM_005188.3(CBL):c.*3096C>G rs150053029
NM_005188.3(CBL):c.*3154C>T rs112984401
NM_005188.3(CBL):c.*3167G>A rs145419944
NM_005188.3(CBL):c.*3272T>C rs148606028
NM_005188.3(CBL):c.*3336A>G rs886047789
NM_005188.3(CBL):c.*3437C>T rs774175986
NM_005188.3(CBL):c.*3578A>T rs140313356
NM_005188.3(CBL):c.*3656C>T rs145348523
NM_005188.3(CBL):c.*3714C>T rs886047790
NM_005188.3(CBL):c.*3854G>A rs115544781
NM_005188.3(CBL):c.*39G>A rs17848890
NM_005188.3(CBL):c.*4029C>T rs563585627
NM_005188.3(CBL):c.*4031C>G rs117973382
NM_005188.3(CBL):c.*4038A>G rs754325180
NM_005188.3(CBL):c.*4085C>G rs11604328
NM_005188.3(CBL):c.*4088C>T rs140837295
NM_005188.3(CBL):c.*4118A>G rs192175025
NM_005188.3(CBL):c.*4140G>A rs886047791
NM_005188.3(CBL):c.*4177C>T rs886047792
NM_005188.3(CBL):c.*4227C>T rs750704582
NM_005188.3(CBL):c.*4302C>T rs114801312
NM_005188.3(CBL):c.*4390C>G rs886047793
NM_005188.3(CBL):c.*4584C>A rs2509671
NM_005188.3(CBL):c.*4818C>T rs886047794
NM_005188.3(CBL):c.*4849A>C rs886047796
NM_005188.3(CBL):c.*4868T>C rs150159135
NM_005188.3(CBL):c.*4877G>A rs532404515
NM_005188.3(CBL):c.*4931T>C rs2510145
NM_005188.3(CBL):c.*4959C>T rs886047797
NM_005188.3(CBL):c.*5008C>G rs548349917
NM_005188.3(CBL):c.*5093C>G rs757662885
NM_005188.3(CBL):c.*5123C>T rs149560809
NM_005188.3(CBL):c.*5134G>A rs886047798
NM_005188.3(CBL):c.*5139C>T rs886047799
NM_005188.3(CBL):c.*513A>G rs138124151
NM_005188.3(CBL):c.*5183C>T rs376394251
NM_005188.3(CBL):c.*5632C>T rs143069410
NM_005188.3(CBL):c.*5648T>C rs79889393
NM_005188.3(CBL):c.*567G>A rs573261482
NM_005188.3(CBL):c.*5717T>G rs547307186
NM_005188.3(CBL):c.*5718C>A rs572014227
NM_005188.3(CBL):c.*5756G>A rs542978255
NM_005188.3(CBL):c.*5811C>T rs569624112
NM_005188.3(CBL):c.*5860T>C rs886047801
NM_005188.3(CBL):c.*5885A>G rs148553071
NM_005188.3(CBL):c.*5907T>C rs2511844
NM_005188.3(CBL):c.*615C>T rs769151797
NM_005188.3(CBL):c.*918T>C rs541035764
NM_005188.3(CBL):c.*932A>G rs886047774
NM_005188.3(CBL):c.*950G>T rs886047775
NM_005188.3(CBL):c.*986A>C rs886047776
NM_005188.3(CBL):c.-41C>T rs751528430
NM_005188.3(CBL):c.-79C>T rs886047767
NM_005188.3(CBL):c.1094A>G (p.Gln365Arg) rs756742202
NM_005188.3(CBL):c.1095+19G>T rs2510152
NM_005188.3(CBL):c.1096-4_1096-1del rs397517077
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.1139T>C (p.Leu380Pro) rs1377506801
NM_005188.3(CBL):c.1144A>G (p.Lys382Glu) rs267606705
NM_005188.3(CBL):c.1168G>T (p.Asp390Tyr) rs267606707
NM_005188.3(CBL):c.1169A>T (p.Asp390Val) rs763058208
NM_005188.3(CBL):c.1227+10T>C rs886047768
NM_005188.3(CBL):c.1227+20dup rs530081144
NM_005188.3(CBL):c.1259G>A (p.Arg420Gln) rs267606708
NM_005188.3(CBL):c.1287C>T (p.Ile429=) rs148368481
NM_005188.3(CBL):c.1459A>G (p.Met487Val) rs17848896
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.1528C>G (p.Pro510Ala) rs538054260
NM_005188.3(CBL):c.1564-13C>T rs117902985
NM_005188.3(CBL):c.1629A>G (p.Pro543=) rs558577411
NM_005188.3(CBL):c.1711G>A (p.Asp571Asn) rs483352825
NM_005188.3(CBL):c.1776C>T (p.Pro592=) rs886047769
NM_005188.3(CBL):c.1829C>A (p.Thr610Lys) rs730880427
NM_005188.3(CBL):c.1920G>A (p.Thr640=) rs202158626
NM_005188.3(CBL):c.1945A>G (p.Met649Val) rs769423231
NM_005188.3(CBL):c.1967G>A (p.Gly656Asp) rs886047770
NM_005188.3(CBL):c.2050C>T (p.Pro684Ser) rs587778154
NM_005188.3(CBL):c.2052A>C (p.Pro684=) rs886047771
NM_005188.3(CBL):c.2060C>T (p.Pro687Leu) rs146705974
NM_005188.3(CBL):c.2096A>G (p.Glu699Gly) rs866325598
NM_005188.3(CBL):c.2097G>A (p.Glu699=) rs1057519031
NM_005188.3(CBL):c.2125C>T (p.Arg709Trp) rs587778155
NM_005188.3(CBL):c.2316T>G (p.Asp772Glu) rs774428573
NM_005188.3(CBL):c.2530A>C (p.Ser844Arg) rs587778159
NM_005188.3(CBL):c.2569C>T (p.Leu857Phe) rs201631570
NM_005188.3(CBL):c.306T>G (p.Tyr102Ter) rs397507489
NM_005188.3(CBL):c.405G>C (p.Glu135Asp) rs1057519030
NM_005188.3(CBL):c.41G>A (p.Gly14Asp) rs868791422
NM_005188.3(CBL):c.625C>G (p.Leu209Val) rs767162260
NM_005188.3(CBL):c.839G>A (p.Arg280Gln) rs145155035
NM_005188.3(CBL):c.852C>T (p.Phe284=) rs745855639
NM_005188.3(CBL):c.869+15G>A rs761328610
NM_005188.3(CBL):c.93C>A (p.Asp31Glu) rs376679438
NM_005188.4(CBL):c.*1059G>A
NM_005188.4(CBL):c.*1164T>G
NM_005188.4(CBL):c.*1252G>A
NM_005188.4(CBL):c.*1581G>A
NM_005188.4(CBL):c.*1712A>G
NM_005188.4(CBL):c.*2008A>T
NM_005188.4(CBL):c.*2105T>C
NM_005188.4(CBL):c.*2147C>G
NM_005188.4(CBL):c.*2174G>A
NM_005188.4(CBL):c.*3031A>C
NM_005188.4(CBL):c.*3153C>T
NM_005188.4(CBL):c.*329A>G
NM_005188.4(CBL):c.*337A>C
NM_005188.4(CBL):c.*3399T>C
NM_005188.4(CBL):c.*3622T>C
NM_005188.4(CBL):c.*3950T>C
NM_005188.4(CBL):c.*3978G>C
NM_005188.4(CBL):c.*4019G>A
NM_005188.4(CBL):c.*4337C>T
NM_005188.4(CBL):c.*43G>A
NM_005188.4(CBL):c.*4542C>T
NM_005188.4(CBL):c.*4667G>A
NM_005188.4(CBL):c.*4716C>G
NM_005188.4(CBL):c.*4755A>C
NM_005188.4(CBL):c.*5006A>G
NM_005188.4(CBL):c.*5044C>T
NM_005188.4(CBL):c.*5136G>A
NM_005188.4(CBL):c.*5379G>T
NM_005188.4(CBL):c.*560A>T
NM_005188.4(CBL):c.*5618G>A
NM_005188.4(CBL):c.*5637A>C
NM_005188.4(CBL):c.*5944C>T
NM_005188.4(CBL):c.*5953C>G
NM_005188.4(CBL):c.*660A>G
NM_005188.4(CBL):c.1096-1G>T rs397517076
NM_005188.4(CBL):c.1096-2A>T rs1592400784
NM_005188.4(CBL):c.1193A>C (p.His398Pro)
NM_005188.4(CBL):c.1227+4C>T rs201747825
NM_005188.4(CBL):c.1247G>C (p.Cys416Ser)
NM_005188.4(CBL):c.1353C>T (p.Pro451=)
NM_005188.4(CBL):c.1399C>G (p.Leu467Val)
NM_005188.4(CBL):c.1485G>A (p.Pro495=) rs2229072
NM_005188.4(CBL):c.1497A>G (p.Arg499=)
NM_005188.4(CBL):c.1641T>C (p.Pro547=) rs61755280
NM_005188.4(CBL):c.1647C>A (p.Asp549Glu) rs369030902
NM_005188.4(CBL):c.1692C>T (p.Pro564=)
NM_005188.4(CBL):c.1754G>T (p.Arg585Leu) rs727504640
NM_005188.4(CBL):c.1795C>G (p.Pro599Ala)
NM_005188.4(CBL):c.1822C>A (p.Pro608Thr)
NM_005188.4(CBL):c.1858C>T (p.Leu620Phe) rs2227988
NM_005188.4(CBL):c.2190G>C (p.Thr730=) rs143840974
NM_005188.4(CBL):c.2216C>T (p.Ser739Phe) rs2227986
NM_005188.4(CBL):c.2269G>A (p.Ala757Thr) rs146517083
NM_005188.4(CBL):c.2345C>T (p.Pro782Leu) rs2229073
NM_005188.4(CBL):c.2399T>G (p.Phe800Cys)
NM_005188.4(CBL):c.2484G>A (p.Pro828=) rs149533467
NM_005188.4(CBL):c.2486G>A (p.Arg829Gln) rs374672276
NM_005188.4(CBL):c.2588A>G (p.Asn863Ser) rs146250423
NM_005188.4(CBL):c.2592C>T (p.Leu864=) rs1893177
NM_005188.4(CBL):c.2678G>A (p.Arg893Gln) rs751198294
NM_005188.4(CBL):c.2710G>A (p.Val904Ile) rs17122769
NM_005188.4(CBL):c.296T>C (p.Leu99Ser)
NM_005188.4(CBL):c.367A>T (p.Met123Leu)
NM_005188.4(CBL):c.513T>C (p.Ser171=) rs2227987
NM_005188.4(CBL):c.869+4A>G rs77284821

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