List of variants in gene CBL reported as uncertain significance for cardiovascular disorder

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 38

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HGVS	dbSNP	gnomAD frequency
NM_005188.4(CBL):c.2484G>A (p.Pro828=)	rs149533467	0.00166
NM_005188.4(CBL):c.2036+9G>T	rs142704935	0.00076
NM_005188.4(CBL):c.2513G>T (p.Gly838Val)	rs144191570	0.00014
NM_005188.4(CBL):c.2060C>T (p.Pro687Leu)	rs146705974	0.00012
NM_005188.4(CBL):c.2359C>T (p.Arg787Cys)	rs143132980	0.00011
NM_005188.4(CBL):c.2312A>T (p.Asp771Val)	rs199788586	0.00010
NM_005188.4(CBL):c.1753C>T (p.Arg585Cys)	rs187952822	0.00006
NM_005188.4(CBL):c.195+3G>A	rs762062705	0.00004
NM_005188.4(CBL):c.819G>A (p.Thr273=)	rs750907780	0.00004
NM_005188.4(CBL):c.1463C>T (p.Ala488Val)	rs377502790	0.00002
NM_005188.4(CBL):c.2153G>A (p.Arg718Gln)	rs144894769	0.00002
NM_005188.4(CBL):c.2485C>T (p.Arg829Trp)	rs761245258	0.00002
NM_005188.4(CBL):c.1178T>C (p.Ile393Thr)	rs775272530	0.00001
NM_005188.4(CBL):c.1298C>T (p.Pro433Leu)	rs140627020	0.00001
NM_005188.4(CBL):c.1687C>T (p.Arg563Cys)	rs768837912	0.00001
NM_005188.4(CBL):c.2433A>G (p.Thr811=)	rs200566020	0.00001
NM_005188.4(CBL):c.625C>G (p.Leu209Val)	rs767162260	0.00001
NM_005188.4(CBL):c.*3927G>A	rs970587770
NM_005188.4(CBL):c.1091C>T (p.Thr364Ile)	rs2135303015
NM_005188.4(CBL):c.1100A>G (p.Gln367Arg)	rs267606704
NM_005188.4(CBL):c.1149A>G (p.Ile383Met)	rs2135303712
NM_005188.4(CBL):c.1190G>A (p.Gly397Glu)
NM_005188.4(CBL):c.1212_1223dup (p.Cys404_Ser407dup)	rs2135303865
NM_005188.4(CBL):c.1243G>A (p.Gly415Ser)	rs756530482
NM_005188.4(CBL):c.1246T>A (p.Cys416Ser)	rs1949907918
NM_005188.4(CBL):c.1400T>C (p.Leu467Pro)	rs1385198964
NM_005188.4(CBL):c.1794A>G (p.Val598=)	rs760865008
NM_005188.4(CBL):c.1925G>A (p.Ser642Asn)	rs571045498
NM_005188.4(CBL):c.2049G>A (p.Val683=)	rs1950067375
NM_005188.4(CBL):c.204G>T (p.Arg68=)	rs1193552867
NM_005188.4(CBL):c.2393CCT[1] (p.Ser799del)	rs755938138
NM_005188.4(CBL):c.2519G>C (p.Cys840Ser)	rs376536789
NM_005188.4(CBL):c.2544C>T (p.Ala848=)	rs2135322154
NM_005188.4(CBL):c.2708A>G (p.His903Arg)	rs1950088762
NM_005188.4(CBL):c.355A>G (p.Met119Val)	rs1173256276
NM_005188.4(CBL):c.747+10_747+11insTTAT	rs1473693007
NM_005188.4(CBL):c.818C>G (p.Thr273Arg)	rs1949876598
NM_005188.4(CBL):c.911C>G (p.Ala304Gly)	rs2135301506

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