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 Variants with at least 2 submissions 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 kind of conflict
279 46 0 20 14 0 2 34

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 4 1 0 0
likely pathogenic 4 0 2 0 0
uncertain significance 1 2 0 14 1
likely benign 0 0 14 0 16
benign 0 0 1 16 0

All variants with conflicting interpretations #

Total variants: 34
Download table as spreadsheet
HGVS dbSNP
NM_005188.2(CBL):c.127_128insACC (p.His42_Leu43insHis) rs373212940
NM_005188.3(CBL):c.1096-4_1096-1delAAAG rs397517077
NM_005188.3(CBL):c.1111T>C (p.Tyr371His) rs267606706
NM_005188.3(CBL):c.1150T>C (p.Cys384Arg) rs387906664
NM_005188.3(CBL):c.1227+4C>T rs201747825
NM_005188.3(CBL):c.1228-2A>G rs727504426
NM_005188.3(CBL):c.125_127delACC (p.His42del) rs373212940
NM_005188.3(CBL):c.1287C>T (p.Ile429=) rs148368481
NM_005188.3(CBL):c.12C>T (p.Asn4=) rs371567712
NM_005188.3(CBL):c.1360A>G (p.Asn454Asp) rs371850672
NM_005188.3(CBL):c.1459A>G (p.Met487Val) rs17848896
NM_005188.3(CBL):c.1485G>A (p.Pro495=) rs2229072
NM_005188.3(CBL):c.1528C>G (p.Pro510Ala) rs538054260
NM_005188.3(CBL):c.1564-13C>T rs117902985
NM_005188.3(CBL):c.1629A>G (p.Pro543=) rs558577411
NM_005188.3(CBL):c.1641T>C (p.Pro547=) rs61755280
NM_005188.3(CBL):c.1647C>A (p.Asp549Glu) rs369030902
NM_005188.3(CBL):c.1754G>T (p.Arg585Leu) rs727504640
NM_005188.3(CBL):c.1829C>A (p.Thr610Lys) rs730880427
NM_005188.3(CBL):c.1858C>T (p.Leu620Phe) rs2227988
NM_005188.3(CBL):c.2036+9G>T rs142704935
NM_005188.3(CBL):c.2052A>C (p.Pro684=) rs886047771
NM_005188.3(CBL):c.2190G>C (p.Thr730=) rs143840974
NM_005188.3(CBL):c.2206A>G (p.Asn736Asp) rs397507497
NM_005188.3(CBL):c.2269G>A (p.Ala757Thr) rs146517083
NM_005188.3(CBL):c.2312A>T (p.Asp771Val) rs199788586
NM_005188.3(CBL):c.2345C>T (p.Pro782Leu) rs2229073
NM_005188.3(CBL):c.2359C>T (p.Arg787Cys) rs143132980
NM_005188.3(CBL):c.2360G>A (p.Arg787His) rs200220863
NM_005188.3(CBL):c.2363G>A (p.Arg788Gln) rs150811339
NM_005188.3(CBL):c.2588A>G (p.Asn863Ser) rs146250423
NM_005188.3(CBL):c.2710G>A (p.Val904Ile) rs17122769
NM_005188.3(CBL):c.513T>C (p.Ser171=) rs2227987
NM_005188.3(CBL):c.801C>G (p.Gly267=) rs727502913

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