ClinVar Miner

Variants in gene CBL with conflicting interpretations

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Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic) 		Variants with a confidence conflict
(e.g. benign vs likely benign) 		Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects) 		Variants with a clinically significant conflict
(e.g. benign vs pathogenic) 		Variants with any conflict
1568 152 0 36 34 0 5 68

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 5 1 0 0
likely pathogenic 5 0 4 0 0
uncertain significance 1 4 0 33 7
likely benign 0 0 33 0 31
benign 0 0 7 31 0

All variants with conflicting interpretations #

Total variants: 68
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005188.4(CBL):c.2710G>A (p.Val904Ile) rs17122769 0.00454
NM_005188.4(CBL):c.2345C>T (p.Pro782Leu) rs2229073 0.00281
NM_005188.4(CBL):c.*1918C>T rs528450894 0.00210
NM_005188.4(CBL):c.1359A>C (p.Pro453=) rs34732429 0.00188
NM_005188.4(CBL):c.870-19del rs548130600 0.00185
NM_005188.4(CBL):c.2484G>A (p.Pro828=) rs149533467 0.00166
NM_005188.4(CBL):c.2190G>C (p.Thr730=) rs143840974 0.00137
NM_005188.4(CBL):c.1858C>T (p.Leu620Phe) rs2227988 0.00121
NM_005188.4(CBL):c.1227+20dup rs530081144 0.00095
NM_005188.4(CBL):c.2036+9G>T rs142704935 0.00076
NM_005188.4(CBL):c.2269G>A (p.Ala757Thr) rs146517083 0.00076
NM_005188.4(CBL):c.1641T>C (p.Pro547=) rs61755280 0.00074
NM_005188.4(CBL):c.*3154C>T rs112984401 0.00073
NM_005188.4(CBL):c.1227+4C>T rs201747825 0.00048
NM_005188.4(CBL):c.*615C>T rs769151797 0.00047
NM_005188.4(CBL):c.2363G>A (p.Arg788Gln) rs150811339 0.00036
NM_005188.4(CBL):c.1942A>C (p.Ser648Arg) rs143264567 0.00035
NM_005188.4(CBL):c.1287C>T (p.Ile429=) rs148368481 0.00031
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.1459A>G (p.Met487Val) rs17848896 0.00012
NM_005188.4(CBL):c.2060C>T (p.Pro687Leu) rs146705974 0.00012
NM_005188.4(CBL):c.1432-6C>T rs371919794 0.00011
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.2569C>T (p.Leu857Phe) rs201631570 0.00008
NM_005188.4(CBL):c.1299G>A (p.Pro433=) rs199633558 0.00007
NM_005188.4(CBL):c.1443G>T (p.Pro481=) rs768111719 0.00007
NM_005188.4(CBL):c.2216C>T (p.Ser739Phe) rs2227986 0.00006
NM_005188.4(CBL):c.2252-8T>C rs555179188 0.00006
NM_005188.4(CBL):c.2262T>G (p.Asn754Lys) rs148139669 0.00006
NM_005188.4(CBL):c.1528C>G (p.Pro510Ala) rs538054260 0.00005
NM_005188.4(CBL):c.1647C>A (p.Asp549Glu) rs369030902 0.00005
NM_005188.4(CBL):c.1723A>G (p.Arg575Gly) rs374515645 0.00005
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.2206A>G (p.Asn736Asp) rs397507497 0.00004
NM_005188.4(CBL):c.2486G>A (p.Arg829Gln) rs374672276 0.00004
NM_005188.4(CBL):c.1259G>A (p.Arg420Gln) rs267606708 0.00002
NM_005188.4(CBL):c.1320C>T (p.Gly440=) rs794727972 0.00001
NM_005188.4(CBL):c.1804G>T (p.Ala602Ser) rs1365230067 0.00001
NM_005188.4(CBL):c.1829C>A (p.Thr610Lys) rs730880427 0.00001
NM_005188.4(CBL):c.2062C>T (p.Pro688Ser) rs730880428 0.00001
NM_005188.4(CBL):c.2230A>G (p.Ile744Val) rs1422371091 0.00001
NM_005188.4(CBL):c.2316T>G (p.Asp772Glu) rs774428573 0.00001
NM_005188.4(CBL):c.2451C>T (p.Ser817=) rs1214485253 0.00001
NM_005188.4(CBL):c.660G>A (p.Glu220=) rs949933368 0.00001
NM_005188.4(CBL):c.1096-4_1096-1del rs397517077
NM_005188.4(CBL):c.1099_1101del (p.Gln367del) rs1555230070
NM_005188.4(CBL):c.1112A>C (p.Tyr371Ser) rs387906666
NM_005188.4(CBL):c.1112A>G (p.Tyr371Cys) rs387906666
NM_005188.4(CBL):c.1144A>G (p.Lys382Glu) rs267606705
NM_005188.4(CBL):c.1202G>T (p.Cys401Phe) rs1357686410
NM_005188.4(CBL):c.1222T>C (p.Trp408Arg) rs755557498
NM_005188.4(CBL):c.1228-10dup rs397517078
NM_005188.4(CBL):c.1228-2A>G rs727504426
NM_005188.4(CBL):c.1296T>C (p.Asp432=) rs1188095865
NM_005188.4(CBL):c.1365T>C (p.Tyr455=) rs749044865
NM_005188.4(CBL):c.1365TGA[7] (p.Asp460dup) rs397507494
NM_005188.4(CBL):c.1434G>T (p.Val478=) rs374936250
NM_005188.4(CBL):c.1470A>G (p.Gln490=)
NM_005188.4(CBL):c.1754G>A (p.Arg585His) rs727504640
NM_005188.4(CBL):c.2052A>C (p.Pro684=) rs886047771
NM_005188.4(CBL):c.2107C>G (p.Pro703Ala) rs1229733932
NM_005188.4(CBL):c.2190G>A (p.Thr730=) rs143840974

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