ClinVar Miner

List of variants in gene CBL reported as likely benign for RASopathy

Included ClinVar conditions (63):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 42
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HGVS dbSNP
NM_005188.3(CBL):c.120C>T (p.His40=) rs745328496
NM_005188.3(CBL):c.125_127delACC rs373212940
NM_005188.3(CBL):c.1287C>T (p.Ile429=) rs148368481
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.1380_1382dupTGA rs397507494
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.1629A>G (p.Pro543=) rs558577411
NM_005188.3(CBL):c.1920G>A (p.Thr640=) rs202158626
NM_005188.3(CBL):c.1942A>C (p.Ser648Arg) rs143264567
NM_005188.3(CBL):c.195+10C>A rs878854755
NM_005188.3(CBL):c.2097G>A (p.Glu699=) rs1057519031
NM_005188.3(CBL):c.2251+9C>A rs1439660465
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.2363G>A (p.Arg788Gln) rs150811339
NM_005188.3(CBL):c.2542G>A (p.Ala848Thr) rs141710973
NM_005188.3(CBL):c.444-9C>T rs892852052
NM_005188.3(CBL):c.591-8C>G rs749291716
NM_005188.3(CBL):c.6C>G (p.Ala2=) rs770473070
NM_005188.3(CBL):c.768G>A (p.Arg256=) rs1555229786
NM_005188.4(CBL):c.1140A>G (p.Leu380=) rs370331997
NM_005188.4(CBL):c.1218A>G (p.Thr406=) rs761053226
NM_005188.4(CBL):c.1227+4C>T rs201747825
NM_005188.4(CBL):c.12C>T (p.Asn4=) rs371567712
NM_005188.4(CBL):c.1353C>T (p.Pro451=)
NM_005188.4(CBL):c.1356C>T (p.Ser452=) rs150443504
NM_005188.4(CBL):c.1432-6C>T rs371919794
NM_005188.4(CBL):c.1564-13_1564-3del rs759801355
NM_005188.4(CBL):c.1614A>G (p.Thr538=) rs1408642074
NM_005188.4(CBL):c.1647C>A (p.Asp549Glu) rs369030902
NM_005188.4(CBL):c.1959A>G (p.Pro653=) rs752080219
NM_005188.4(CBL):c.2216C>T (p.Ser739Phe) rs2227986
NM_005188.4(CBL):c.2223G>A (p.Ala741=) rs202229538
NM_005188.4(CBL):c.2268C>T (p.Ala756=) rs142564074
NM_005188.4(CBL):c.2269G>A (p.Ala757Thr) rs146517083
NM_005188.4(CBL):c.2349C>T (p.Ala783=) rs552509693
NM_005188.4(CBL):c.2359C>T (p.Arg787Cys) rs143132980
NM_005188.4(CBL):c.2394C>T (p.Ser798=) rs773256658
NM_005188.4(CBL):c.2486G>A (p.Arg829Gln) rs374672276
NM_005188.4(CBL):c.591-9C>G rs747041808

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