ClinVar Miner

Variants in gene CREBBP 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
647 61 0 26 15 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 0 6 0 0 0
likely pathogenic 6 0 1 0 0
uncertain significance 0 1 0 13 3
likely benign 0 0 13 0 20
benign 0 0 3 20 0

All variants with conflicting interpretations #

Total variants: 41
Download table as spreadsheet
NM_004380.3(CREBBP):c.1149G>A (p.Pro383=) rs61759495
NM_004380.3(CREBBP):c.1651C>A (p.Leu551Ile) rs61753381
NM_004380.3(CREBBP):c.1732C>T (p.Pro578Ser) rs148023511
NM_004380.3(CREBBP):c.2526G>A (p.Gln842=) rs141775567
NM_004380.3(CREBBP):c.2678C>T (p.Ser893Leu) rs142047649
NM_004380.3(CREBBP):c.2728A>G (p.Thr910Ala) rs143247685
NM_004380.3(CREBBP):c.2728A>T (p.Thr910Ser) rs143247685
NM_004380.3(CREBBP):c.2811G>A (p.Pro937=) rs146168040
NM_004380.3(CREBBP):c.2950A>T (p.Asn984Tyr) rs140406003
NM_004380.3(CREBBP):c.2973C>T (p.Asp991=) rs142528559
NM_004380.3(CREBBP):c.333C>T (p.Asn111=) rs150229705
NM_004380.3(CREBBP):c.3500A>G (p.Tyr1167Cys) rs587783481
NM_004380.3(CREBBP):c.3524A>G (p.Tyr1175Cys) rs28937315
NM_004380.3(CREBBP):c.3832G>A (p.Glu1278Lys) rs267606752
NM_004380.3(CREBBP):c.4133+19T>C rs202204380
NM_004380.3(CREBBP):c.423T>G (p.Ser141=) rs760605470
NM_004380.3(CREBBP):c.4280+8T>C rs376814421
NM_004380.3(CREBBP):c.5036CCT[1] (p.Ser1680del) rs587783502
NM_004380.3(CREBBP):c.5271C>T (p.Gly1757=) rs190121951
NM_004380.3(CREBBP):c.5334G>A (p.Ser1778=) rs201062642
NM_004380.3(CREBBP):c.5356C>T (p.Arg1786Cys) rs1555471394
NM_004380.3(CREBBP):c.5436C>G (p.Thr1812=) rs61731405
NM_004380.3(CREBBP):c.5719G>A (p.Ala1907Thr) rs199990883
NM_004380.3(CREBBP):c.5800T>C (p.Ser1934Pro) rs587783504
NM_004380.3(CREBBP):c.5829G>A (p.Pro1943=) rs546554430
NM_004380.3(CREBBP):c.5865G>A (p.Ala1955=) rs554810606
NM_004380.3(CREBBP):c.6003T>C (p.Asn2001=) rs200998860
NM_004380.3(CREBBP):c.6090G>A (p.Gln2030=) rs374969185
NM_004380.3(CREBBP):c.6241C>T (p.Gln2081Ter) rs886041518
NM_004380.3(CREBBP):c.6340G>A (p.Gly2114Ser) rs139169188
NM_004380.3(CREBBP):c.6516C>T (p.Asn2172=) rs763852812
NM_004380.3(CREBBP):c.6564G>A (p.Gln2188=) rs73491896
NM_004380.3(CREBBP):c.6609A>G (p.Gln2203=) rs62636220
NM_004380.3(CREBBP):c.6624A>C (p.Gln2208His) rs142545779
NM_004380.3(CREBBP):c.6624A>G (p.Gln2208=) rs142545779
NM_004380.3(CREBBP):c.6666_6677del (p.2220_2223GMAG[1]) rs778220523
NM_004380.3(CREBBP):c.681T>C (p.Pro227=) rs201193684
NM_004380.3(CREBBP):c.6849C>T (p.Ser2283=) rs148904096
NM_004380.3(CREBBP):c.711C>T (p.Ser237=) rs146049063
NM_004380.3(CREBBP):c.760G>A (p.Ala254Thr) rs148781922

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.