ClinVar Miner

Variants in gene CDK5RAP2 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 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
268 18 2 23 18 0 1 41

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 2 1 1 0 0
likely pathogenic 1 0 0 0 0
uncertain significance 1 0 0 13 8
likely benign 0 0 13 0 22
benign 0 0 8 22 0

All variants with conflicting interpretations #

Total variants: 41
Download table as spreadsheet
NM_018249.6(CDK5RAP2):c.1093-14G>A rs75029577
NM_018249.6(CDK5RAP2):c.1093-27A>G rs2095064
NM_018249.6(CDK5RAP2):c.1218G>A (p.Gln406=) rs61758368
NM_018249.6(CDK5RAP2):c.1593A>G (p.Gln531=) rs140722791
NM_018249.6(CDK5RAP2):c.2003A>G (p.Tyr668Cys) rs137966123
NM_018249.6(CDK5RAP2):c.2274T>C (p.Asp758=) rs2501727
NM_018249.6(CDK5RAP2):c.2289C>T (p.His763=) rs36001459
NM_018249.6(CDK5RAP2):c.2294C>G (p.Pro765Arg) rs139706626
NM_018249.6(CDK5RAP2):c.246T>A (p.Tyr82Ter) rs199422126
NM_018249.6(CDK5RAP2):c.2482A>G (p.Lys828Glu) rs549081765
NM_018249.6(CDK5RAP2):c.2568G>A (p.Gln856=) rs144723485
NM_018249.6(CDK5RAP2):c.2655C>G (p.Phe885Leu) rs112600265
NM_018249.6(CDK5RAP2):c.2826A>T (p.Ile942=) rs142596662
NM_018249.6(CDK5RAP2):c.307-4G>A rs7030969
NM_018249.6(CDK5RAP2):c.3134G>C (p.Arg1045Thr) rs3780679
NM_018249.6(CDK5RAP2):c.3558C>T (p.Leu1186=) rs146736925
NM_018249.6(CDK5RAP2):c.4005-15A>G rs387906274
NM_018249.6(CDK5RAP2):c.4041G>A (p.Leu1347=) rs6478475
NM_018249.6(CDK5RAP2):c.412G>A (p.Gly138Ser) rs61756286
NM_018249.6(CDK5RAP2):c.4338T>A (p.Ser1446Arg) rs143341041
NM_018249.6(CDK5RAP2):c.4399A>G (p.Ile1467Val) rs139924571
NM_018249.6(CDK5RAP2):c.4441C>T (p.Arg1481Ter) rs587783390
NM_018249.6(CDK5RAP2):c.4618G>C (p.Val1540Leu) rs4837768
NM_018249.6(CDK5RAP2):c.4665G>T (p.Gln1555His) rs35909061
NM_018249.6(CDK5RAP2):c.480A>C (p.Leu160=) rs3750494
NM_018249.6(CDK5RAP2):c.4821G>C (p.Arg1607Ser) rs16909747
NM_018249.6(CDK5RAP2):c.524_528del (p.Gln175fs) rs587783393
NM_018249.6(CDK5RAP2):c.5355G>A (p.Thr1785=) rs145402135
NM_018249.6(CDK5RAP2):c.5418C>T (p.Pro1806=) rs3739822
NM_018249.6(CDK5RAP2):c.5454T>G (p.Ile1818Met) rs114128928
NM_018249.6(CDK5RAP2):c.547G>C (p.Ala183Pro) rs13287734
NM_018249.6(CDK5RAP2):c.5578+29C>G rs4410972
NM_018249.6(CDK5RAP2):c.5578+48C>T rs10984902
NM_018249.6(CDK5RAP2):c.5578T>C (p.Leu1860=) rs77100552
NM_018249.6(CDK5RAP2):c.5579-34G>C rs2297457
NM_018249.6(CDK5RAP2):c.55T>C (p.Cys19Arg) rs143766657
NM_018249.6(CDK5RAP2):c.764C>T (p.Ser255Leu) rs35199933
NM_018249.6(CDK5RAP2):c.817G>A (p.Glu273Lys) rs772591394
NM_018249.6(CDK5RAP2):c.865G>C (p.Glu289Gln) rs4836822
NM_018249.6(CDK5RAP2):c.880-7A>G rs76132121
NM_018249.6(CDK5RAP2):c.923C>T (p.Thr308Ile) rs145272328

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