List of variants in gene CBL reported as uncertain significance by Ambry Genetics

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: 79

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_005188.4(CBL):c.2513G>T (p.Gly838Val)	rs144191570	0.00014
NM_005188.4(CBL):c.2312A>T (p.Asp771Val)	rs199788586	0.00010
NM_005188.4(CBL):c.2126G>A (p.Arg709Gln)	rs770667508	0.00007
NM_005188.4(CBL):c.2262T>G (p.Asn754Lys)	rs148139669	0.00006
NM_005188.4(CBL):c.1477C>T (p.Leu493Phe)	rs730880434	0.00004
NM_005188.4(CBL):c.195+3G>A	rs762062705	0.00004
NM_005188.4(CBL):c.2083G>A (p.Glu695Lys)	rs143975631	0.00004
NM_005188.4(CBL):c.2614C>A (p.Gln872Lys)	rs746795014	0.00004
NM_005188.4(CBL):c.1703C>T (p.Thr568Ile)	rs762016318	0.00003
NM_005188.4(CBL):c.2666A>G (p.Lys889Arg)	rs1369884955	0.00003
NM_005188.4(CBL):c.1031A>G (p.Asn344Ser)	rs370489946	0.00002
NM_005188.4(CBL):c.1394A>T (p.Asp465Val)	rs770644035	0.00002
NM_005188.4(CBL):c.1468C>G (p.Gln490Glu)	rs1368426444	0.00002
NM_005188.4(CBL):c.1783A>G (p.Ile595Val)	rs775675805	0.00002
NM_005188.4(CBL):c.2485C>T (p.Arg829Trp)	rs761245258	0.00002
NM_005188.4(CBL):c.286C>T (p.Arg96Cys)	rs147438359	0.00002
NM_005188.4(CBL):c.560C>T (p.Ala187Val)	rs587778162	0.00002
NM_005188.4(CBL):c.1298C>T (p.Pro433Leu)	rs140627020	0.00001
NM_005188.4(CBL):c.1849C>T (p.Arg617Trp)	rs538013681	0.00001
NM_005188.4(CBL):c.2012A>G (p.Asn671Ser)	rs760168148	0.00001
NM_005188.4(CBL):c.203G>A (p.Arg68Gln)	rs901321242	0.00001
NM_005188.4(CBL):c.2053A>G (p.Lys685Glu)	rs1555027603	0.00001
NM_005188.4(CBL):c.2062C>T (p.Pro688Ser)	rs730880428	0.00001
NM_005188.4(CBL):c.2086G>A (p.Glu696Lys)	rs539217274	0.00001
NM_005188.4(CBL):c.2432C>T (p.Thr811Ile)	rs749068285	0.00001
NM_005188.4(CBL):c.2692A>G (p.Ile898Val)	rs397507499	0.00001
NM_005188.4(CBL):c.469A>G (p.Ile157Val)	rs730880430	0.00001
NM_005188.4(CBL):c.1033C>G (p.Gln345Glu)	rs202095002
NM_005188.4(CBL):c.1099C>A (p.Gln367Lys)	rs727504504
NM_005188.4(CBL):c.1129A>G (p.Thr377Ala)	rs727502914
NM_005188.4(CBL):c.1132T>C (p.Phe378Leu)
NM_005188.4(CBL):c.1210T>C (p.Cys404Arg)	rs1949905314
NM_005188.4(CBL):c.1220C>A (p.Ser407Tyr)	rs2135303902
NM_005188.4(CBL):c.1349C>T (p.Ala450Val)
NM_005188.4(CBL):c.1358C>T (p.Pro453Leu)
NM_005188.4(CBL):c.1393G>T (p.Asp465Tyr)
NM_005188.4(CBL):c.1400T>C (p.Leu467Pro)	rs1385198964
NM_005188.4(CBL):c.1439G>A (p.Arg480Gln)	rs1949969239
NM_005188.4(CBL):c.1498C>T (p.Leu500Phe)	rs1949969949
NM_005188.4(CBL):c.1531T>A (p.Ser511Thr)
NM_005188.4(CBL):c.1567G>T (p.Ala523Ser)
NM_005188.4(CBL):c.1601C>T (p.Pro534Leu)
NM_005188.4(CBL):c.1616T>C (p.Leu539Pro)
NM_005188.4(CBL):c.1633C>G (p.Pro545Ala)
NM_005188.4(CBL):c.1697C>G (p.Pro566Arg)	rs1428398685
NM_005188.4(CBL):c.1778G>A (p.Arg593Gln)	rs730880435
NM_005188.4(CBL):c.1789A>C (p.Lys597Gln)
NM_005188.4(CBL):c.1834A>G (p.Arg612Gly)
NM_005188.4(CBL):c.1847A>C (p.Asn616Thr)	rs376094293
NM_005188.4(CBL):c.1847A>G (p.Asn616Ser)
NM_005188.4(CBL):c.1928T>C (p.Leu643Pro)
NM_005188.4(CBL):c.1933A>G (p.Thr645Ala)
NM_005188.4(CBL):c.2048T>C (p.Val683Ala)
NM_005188.4(CBL):c.2070G>T (p.Glu690Asp)
NM_005188.4(CBL):c.2072A>C (p.Gln691Pro)
NM_005188.4(CBL):c.215A>T (p.Asn72Ile)
NM_005188.4(CBL):c.2164T>A (p.Cys722Ser)
NM_005188.4(CBL):c.2180A>G (p.Asp727Gly)
NM_005188.4(CBL):c.2209A>G (p.Ile737Val)
NM_005188.4(CBL):c.2336C>T (p.Pro779Leu)
NM_005188.4(CBL):c.2378T>C (p.Ile793Thr)
NM_005188.4(CBL):c.2417A>T (p.Asp806Val)
NM_005188.4(CBL):c.2516G>C (p.Ser839Thr)	rs199771745
NM_005188.4(CBL):c.2558C>T (p.Ala853Val)
NM_005188.4(CBL):c.2612A>T (p.Tyr871Phe)
NM_005188.4(CBL):c.2638A>C (p.Ile880Leu)
NM_005188.4(CBL):c.2644C>A (p.Gln882Lys)
NM_005188.4(CBL):c.266C>G (p.Pro89Arg)
NM_005188.4(CBL):c.2675_2676del (p.Leu892fs)	rs1950088243
NM_005188.4(CBL):c.338A>C (p.Glu113Ala)
NM_005188.4(CBL):c.385A>G (p.Thr129Ala)
NM_005188.4(CBL):c.401A>G (p.Lys134Arg)	rs2135266374
NM_005188.4(CBL):c.440C>T (p.Pro147Leu)
NM_005188.4(CBL):c.493C>G (p.Leu165Val)	rs1555229540
NM_005188.4(CBL):c.656T>C (p.Leu219Pro)	rs895664191
NM_005188.4(CBL):c.664A>G (p.Met222Val)
NM_005188.4(CBL):c.682A>G (p.Ile228Val)
NM_005188.4(CBL):c.712G>A (p.Val238Ile)
NM_005188.4(CBL):c.787G>A (p.Val263Ile)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.