ClinVar Miner

Variants in gene CEP152 with conflicting interpretations

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
88 43 0 18 15 0 3 31

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 2 1 2 0
likely pathogenic 2 0 1 0 0
uncertain significance 1 1 0 14 5
likely benign 2 0 14 0 16
benign 0 0 5 16 0

All variants with conflicting interpretations #

Total variants: 31
Download table as spreadsheet
HGVS dbSNP
NM_014985.3(CEP152):c.1180A>G (p.Ile394Val) rs181295720
NM_014985.3(CEP152):c.161C>T (p.Ser54Leu) rs2289181
NM_014985.3(CEP152):c.1909-8G>C rs116089174
NM_014985.3(CEP152):c.191+11G>A rs75503597
NM_014985.3(CEP152):c.2000A>G (p.Lys667Arg) rs200879436
NM_014985.3(CEP152):c.2019-13G>A rs9302144
NM_014985.3(CEP152):c.2034T>G (p.Tyr678Ter) rs182018947
NM_014985.3(CEP152):c.2262G>A (p.Glu754=) rs149176738
NM_014985.3(CEP152):c.2378G>T (p.Ser793Ile) rs2289178
NM_014985.3(CEP152):c.2681C>T (p.Ser894Phe) rs145138194
NM_014985.3(CEP152):c.2740C>G (p.Leu914Val) rs16961560
NM_014985.3(CEP152):c.3278G>A (p.Cys1093Tyr) rs74012142
NM_014985.3(CEP152):c.3313C>G (p.Leu1105Val) rs74553953
NM_014985.3(CEP152):c.3317T>C (p.Val1106Ala) rs16961557
NM_014985.3(CEP152):c.3325G>C (p.Ala1109Pro) rs115832709
NM_014985.3(CEP152):c.344G>A (p.Arg115Gln) rs188101277
NM_014985.3(CEP152):c.3612G>C (p.Gly1204=) rs199777941
NM_014985.3(CEP152):c.3904C>G (p.Gln1302Glu) rs149478199
NM_014985.3(CEP152):c.3926-9A>T rs80090788
NM_014985.3(CEP152):c.4007T>C (p.Ile1336Thr) rs186930123
NM_014985.3(CEP152):c.4131T>C (p.His1377=) rs114085678
NM_014985.3(CEP152):c.4210_4211delGT (p.Val1404Phefs) rs141600901
NM_014985.3(CEP152):c.4689T>C (p.Asp1563=) rs74986073
NM_014985.3(CEP152):c.4746A>G (p.Pro1582=) rs150910683
NM_014985.3(CEP152):c.4910C>T (p.Pro1637Leu) rs368764302
NM_014985.3(CEP152):c.4947A>G (p.Pro1649=) rs1048042
NM_014985.3(CEP152):c.644G>A (p.Ser215Asn) rs200957146
NM_014985.3(CEP152):c.691+9C>T rs77732888
NM_014985.3(CEP152):c.767T>C (p.Ile256Thr) rs201217824
NM_014985.3(CEP152):c.794A>C (p.Gln265Pro) rs267606717
NM_014985.3(CEP152):c.925A>C (p.Lys309Gln) rs199862615

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.