List of variants in gene CBL reported as uncertain significance for not specified

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: 97

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HGVS	dbSNP	gnomAD frequency
NM_005188.4(CBL):c.2345C>T (p.Pro782Leu)	rs2229073	0.00281
NM_005188.4(CBL):c.2363G>A (p.Arg788Gln)	rs150811339	0.00036
NM_005188.4(CBL):c.2588A>G (p.Asn863Ser)	rs146250423	0.00019
NM_005188.4(CBL):c.2513G>T (p.Gly838Val)	rs144191570	0.00014
NM_005188.4(CBL):c.-5A>G	rs552214111	0.00013
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.2360G>A (p.Arg787His)	rs200220863	0.00011
NM_005188.4(CBL):c.2312A>T (p.Asp771Val)	rs199788586	0.00010
NM_005188.4(CBL):c.1566T>C (p.Ala522=)	rs371065029	0.00009
NM_005188.4(CBL):c.590+20A>G	rs769677676	0.00009
NM_005188.4(CBL):c.2126G>A (p.Arg709Gln)	rs770667508	0.00007
NM_005188.4(CBL):c.1423G>A (p.Gly475Ser)	rs764599897	0.00006
NM_005188.4(CBL):c.1753C>T (p.Arg585Cys)	rs187952822	0.00006
NM_005188.4(CBL):c.1528C>G (p.Pro510Ala)	rs538054260	0.00005
NM_005188.4(CBL):c.1723A>G (p.Arg575Gly)	rs374515645	0.00005
NM_005188.4(CBL):c.2482C>T (p.Pro828Ser)	rs371026706	0.00005
NM_005188.4(CBL):c.2520T>G (p.Cys840Trp)	rs112330156	0.00005
NM_005188.4(CBL):c.1360A>G (p.Asn454Asp)	rs371850672	0.00004
NM_005188.4(CBL):c.1477C>T (p.Leu493Phe)	rs730880434	0.00004
NM_005188.4(CBL):c.1511C>T (p.Pro504Leu)	rs533554769	0.00004
NM_005188.4(CBL):c.1648C>T (p.Arg550Trp)	rs202065722	0.00004
NM_005188.4(CBL):c.1942-17T>C	rs907111206	0.00004
NM_005188.4(CBL):c.2206A>G (p.Asn736Asp)	rs397507497	0.00004
NM_005188.4(CBL):c.2486G>A (p.Arg829Gln)	rs374672276	0.00004
NM_005188.4(CBL):c.2614C>A (p.Gln872Lys)	rs746795014	0.00004
NM_005188.4(CBL):c.2677C>T (p.Arg893Trp)	rs368138875	0.00004
NM_005188.4(CBL):c.1484C>T (p.Pro495Leu)	rs373989524	0.00003
NM_005188.4(CBL):c.1676G>T (p.Arg559Leu)	rs143034856	0.00003
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.1563+16T>G	rs767609973	0.00002
NM_005188.4(CBL):c.1783A>G (p.Ile595Val)	rs775675805	0.00002
NM_005188.4(CBL):c.195+14T>G	rs1011872703	0.00002
NM_005188.4(CBL):c.2153G>A (p.Arg718Gln)	rs144894769	0.00002
NM_005188.4(CBL):c.2287G>A (p.Gly763Ser)	rs1454216416	0.00002
NM_005188.4(CBL):c.2485C>T (p.Arg829Trp)	rs761245258	0.00002
NM_005188.4(CBL):c.2678G>A (p.Arg893Gln)	rs751198294	0.00002
NM_005188.4(CBL):c.664A>C (p.Met222Leu)	rs773611782	0.00002
NM_005188.4(CBL):c.698A>G (p.Asn233Ser)	rs143276937	0.00002
NM_005188.4(CBL):c.1244G>T (p.Gly415Val)	rs1388592245	0.00001
NM_005188.4(CBL):c.1288G>A (p.Val430Met)	rs991981291	0.00001
NM_005188.4(CBL):c.1298C>T (p.Pro433Leu)	rs140627020	0.00001
NM_005188.4(CBL):c.1622A>T (p.Asp541Val)	rs147285276	0.00001
NM_005188.4(CBL):c.1637C>T (p.Pro546Leu)	rs751274314	0.00001
NM_005188.4(CBL):c.1891A>G (p.Arg631Gly)	rs552590011	0.00001
NM_005188.4(CBL):c.1925G>T (p.Ser642Ile)	rs571045498	0.00001
NM_005188.4(CBL):c.2155G>A (p.Ala719Thr)	rs757126995	0.00001
NM_005188.4(CBL):c.2451C>T (p.Ser817=)	rs1214485253	0.00001
NM_005188.4(CBL):c.2530A>C (p.Ser844Arg)	rs587778159	0.00001
NM_005188.4(CBL):c.2533G>A (p.Gly845Ser)	rs997859448	0.00001
NM_005188.4(CBL):c.469A>G (p.Ile157Val)	rs730880430	0.00001
NM_005188.4(CBL):c.595A>G (p.Ile199Val)	rs397517082	0.00001
NM_005188.4(CBL):c.660G>A (p.Glu220=)	rs949933368	0.00001
NM_005188.4(CBL):c.1129A>G (p.Thr377Ala)	rs727502914
NM_005188.4(CBL):c.1168G>C (p.Asp390His)	rs267606707
NM_005188.4(CBL):c.1193A>G (p.His398Arg)	rs1303812580
NM_005188.4(CBL):c.1222T>C (p.Trp408Arg)	rs755557498
NM_005188.4(CBL):c.1283_1384del (p.Pro428_Glu461del)	rs1555230119
NM_005188.4(CBL):c.1298C>A (p.Pro433Gln)	rs140627020
NM_005188.4(CBL):c.1298del (p.Pro433fs)
NM_005188.4(CBL):c.1365T>C (p.Tyr455=)	rs749044865
NM_005188.4(CBL):c.1384C>T (p.Arg462Ter)	rs886041425
NM_005188.4(CBL):c.1538C>T (p.Ala513Val)	rs1949970576
NM_005188.4(CBL):c.1705_1707del (p.Pro569del)	rs2135310558
NM_005188.4(CBL):c.1739C>T (p.Pro580Leu)
NM_005188.4(CBL):c.1754G>T (p.Arg585Leu)	rs727504640
NM_005188.4(CBL):c.1850G>T (p.Arg617Leu)	rs780457588
NM_005188.4(CBL):c.195+12_195+13delinsTT	rs1949271281
NM_005188.4(CBL):c.2047G>A (p.Val683Met)	rs2135319783
NM_005188.4(CBL):c.2087A>G (p.Glu696Gly)	rs1354142112
NM_005188.4(CBL):c.2107C>G (p.Pro703Ala)	rs1229733932
NM_005188.4(CBL):c.2154-8T>C
NM_005188.4(CBL):c.2185T>C (p.Cys729Arg)	rs1950071650
NM_005188.4(CBL):c.2246C>T (p.Thr749Ile)	rs2135320235
NM_005188.4(CBL):c.2279_2346dup (p.Ala783fs)	rs1950077753
NM_005188.4(CBL):c.2282_2362dup (p.Arg787_Arg788insHisThrGlyProGluGluSerGluAsnGluAspAspGlyTyrAspValProLysProProValProAlaValLeuAlaArg)	rs1950077794
NM_005188.4(CBL):c.231A>G (p.Leu77=)	rs2135266156
NM_005188.4(CBL):c.2381C>T (p.Ser794Phe)	rs201620100
NM_005188.4(CBL):c.2393CCT[1] (p.Ser799del)	rs755938138
NM_005188.4(CBL):c.2471C>T (p.Pro824Leu)	rs2135322034
NM_005188.4(CBL):c.2504G>A (p.Arg835Gln)	rs1057518072
NM_005188.4(CBL):c.2509G>A (p.Ala837Thr)	rs1950086093
NM_005188.4(CBL):c.2589C>G (p.Asn863Lys)	rs397517081
NM_005188.4(CBL):c.2603G>T (p.Gly868Val)	rs1950087495
NM_005188.4(CBL):c.2679G>A (p.Arg893=)	rs2135322347
NM_005188.4(CBL):c.2684T>C (p.Phe895Ser)
NM_005188.4(CBL):c.347G>T (p.Arg116Met)	rs748412298
NM_005188.4(CBL):c.357G>A (p.Met119Ile)	rs1490142046
NM_005188.4(CBL):c.401A>G (p.Lys134Arg)	rs2135266374
NM_005188.4(CBL):c.445C>T (p.Arg149Ter)	rs267602720
NM_005188.4(CBL):c.590+20A>T
NM_005188.4(CBL):c.591-8C>T	rs749291716
NM_005188.4(CBL):c.665T>C (p.Met222Thr)	rs1057518053
NM_005188.4(CBL):c.747+3A>G	rs1592398477
NM_005188.4(CBL):c.747+8A>T
NM_005188.4(CBL):c.791C>T (p.Thr264Ile)

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