ClinVar Miner

List of variants in gene CBL reported as uncertain significance for Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia

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Gene type:
ClinVar version:
Total variants: 104
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HGVS dbSNP
NC_000011.10:g.119206335C>T
NM_005188.3(CBL):c.*1258G>A rs886047777
NM_005188.3(CBL):c.*1487A>G rs780157945
NM_005188.3(CBL):c.*1661G>T rs886047778
NM_005188.3(CBL):c.*1711T>C rs886047779
NM_005188.3(CBL):c.*1733T>G rs190569484
NM_005188.3(CBL):c.*1884C>T rs772494648
NM_005188.3(CBL):c.*1918C>T rs528450894
NM_005188.3(CBL):c.*1965G>A rs886047781
NM_005188.3(CBL):c.*2137C>T rs886047783
NM_005188.3(CBL):c.*2224A>G rs550910545
NM_005188.3(CBL):c.*2554G>C rs886047784
NM_005188.3(CBL):c.*282C>G rs886047773
NM_005188.3(CBL):c.*3026C>T rs886047786
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.*3714C>T rs886047790
NM_005188.3(CBL):c.*4029C>T rs563585627
NM_005188.3(CBL):c.*4038A>G rs754325180
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.*4390C>G rs886047793
NM_005188.3(CBL):c.*4818C>T rs886047794
NM_005188.3(CBL):c.*4849A>C rs886047796
NM_005188.3(CBL):c.*4877G>A rs532404515
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.*5134G>A rs886047798
NM_005188.3(CBL):c.*5139C>T rs886047799
NM_005188.3(CBL):c.*5183C>T rs376394251
NM_005188.3(CBL):c.*5860T>C rs886047801
NM_005188.3(CBL):c.*5885A>G rs148553071
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.1099_1101del (p.Gln367del) rs1555230070
NM_005188.3(CBL):c.1139T>C (p.Leu380Pro) rs1377506801
NM_005188.3(CBL):c.1227+10T>C rs886047768
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.1776C>T (p.Pro592=) rs886047769
NM_005188.3(CBL):c.1829C>A (p.Thr610Lys) rs730880427
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.2096A>G (p.Glu699Gly) rs866325598
NM_005188.3(CBL):c.2125C>T (p.Arg709Trp) rs587778155
NM_005188.3(CBL):c.2530A>C (p.Ser844Arg) rs587778159
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.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.*2174G>A
NM_005188.4(CBL):c.*3031A>C
NM_005188.4(CBL):c.*3153C>T
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.1193A>C (p.His398Pro)
NM_005188.4(CBL):c.1399C>G (p.Leu467Val)
NM_005188.4(CBL):c.1497A>G (p.Arg499=)
NM_005188.4(CBL):c.1692C>T (p.Pro564=)
NM_005188.4(CBL):c.1795C>G (p.Pro599Ala)
NM_005188.4(CBL):c.1822C>A (p.Pro608Thr)
NM_005188.4(CBL):c.2399T>G (p.Phe800Cys)
NM_005188.4(CBL):c.2678G>A (p.Arg893Gln) rs751198294
NM_005188.4(CBL):c.296T>C (p.Leu99Ser)
NM_005188.4(CBL):c.367A>T (p.Met123Leu)

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