ClinVar Miner

Variants in gene CDKL5 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
358 72 0 28 11 0 2 40

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 14 2 0 0
likely pathogenic 14 0 0 0 0
uncertain significance 2 0 0 10 2
likely benign 0 0 10 0 14
benign 0 0 2 14 0

All variants with conflicting interpretations #

Total variants: 40
Download table as spreadsheet
HGVS dbSNP
NM_003159.2(CDKL5):c.1002T>C (p.Ala334=) rs756986206
NM_003159.2(CDKL5):c.1278A>C (p.Ser426=) rs267608620
NM_003159.2(CDKL5):c.1330C>T (p.Arg444Cys) rs61753977
NM_003159.2(CDKL5):c.1332C>T (p.Arg444=) rs150844616
NM_003159.2(CDKL5):c.1338A>T (p.Ser446=) rs139329419
NM_003159.2(CDKL5):c.1400A>G (p.His467Arg) rs267608631
NM_003159.2(CDKL5):c.1431T>C (p.Ser477=) rs143992148
NM_003159.2(CDKL5):c.145+17A>G rs199814742
NM_003159.2(CDKL5):c.1455_1460delGGCCAA (p.Ala486_Lys487del) rs587783114
NM_003159.2(CDKL5):c.163_166delGAAA (p.Glu55Argfs) rs267608433
NM_003159.2(CDKL5):c.1722G>A (p.Pro574=) rs371603866
NM_003159.2(CDKL5):c.1797C>G (p.Thr599=) rs141478957
NM_003159.2(CDKL5):c.1892T>C (p.Ile631Thr) rs144878564
NM_003159.2(CDKL5):c.199C>T (p.Leu67Phe) rs267608437
NM_003159.2(CDKL5):c.2046+1G>A rs786204976
NM_003159.2(CDKL5):c.211A>G (p.Asn71Asp) rs587783072
NM_003159.2(CDKL5):c.2152+10C>G rs763466606
NM_003159.2(CDKL5):c.2152G>A (p.Val718Met) rs267608653
NM_003159.2(CDKL5):c.2200A>G (p.Thr734Ala) rs55803460
NM_003159.2(CDKL5):c.2388C>T (p.Ser796=) rs727503847
NM_003159.2(CDKL5):c.2389G>A (p.Asp797Asn) rs140313320
NM_003159.2(CDKL5):c.2413C>T (p.Gln805Ter) rs267608659
NM_003159.2(CDKL5):c.2445C>T (p.Ser815=) rs371902632
NM_003159.2(CDKL5):c.2466C>G (p.Arg822=) rs146488512
NM_003159.2(CDKL5):c.2469C>T (p.Pro823=) rs369377144
NM_003159.2(CDKL5):c.2635_2636delCT (p.Leu879Glufs) rs61753251
NM_003159.2(CDKL5):c.2673G>A (p.Gln891=) rs373448935
NM_003159.2(CDKL5):c.2713+129C>T rs1555955296
NM_003159.2(CDKL5):c.283-13A>G rs587783404
NM_003159.2(CDKL5):c.380A>G (p.His127Arg) rs267608468
NM_003159.2(CDKL5):c.532C>T (p.Arg178Trp) rs267608493
NM_003159.2(CDKL5):c.533G>A (p.Arg178Gln) rs267606715
NM_003159.2(CDKL5):c.554+1G>A rs1555950083
NM_003159.2(CDKL5):c.555-19C>G rs75057928
NM_003159.2(CDKL5):c.587C>T (p.Ser196Leu) rs267608501
NM_003159.2(CDKL5):c.62A>G (p.Glu21Gly) rs587783406
NM_003159.2(CDKL5):c.872G>A (p.Cys291Tyr) rs267606714
NM_003159.2(CDKL5):c.93A>G (p.Arg31=) rs140332992
NM_003159.2(CDKL5):c.950A>G (p.His317Arg) rs756537286
NM_003159.2(CDKL5):c.99+1G>T rs267608421

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