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 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
499 63 0 40 18 0 5 58

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 9 1 1 1
likely pathogenic 9 0 4 0 0
uncertain significance 1 4 0 15 6
likely benign 1 0 15 0 31
benign 1 0 6 31 0

All variants with conflicting interpretations #

Total variants: 58
Download table as spreadsheet
NM_001079846.1(CREBBP):c.1149G>A (p.Pro383=) rs61759495
NM_001079846.1(CREBBP):c.1537C>A (p.Leu513Ile) rs61753381
NM_001079846.1(CREBBP):c.1618C>T (p.Pro540Ser) rs148023511
NM_001079846.1(CREBBP):c.2412G>A (p.Gln804=) rs141775567
NM_001079846.1(CREBBP):c.2564C>T (p.Ser855Leu) rs142047649
NM_001079846.1(CREBBP):c.2614A>G (p.Thr872Ala) rs143247685
NM_001079846.1(CREBBP):c.2614A>T (p.Thr872Ser) rs143247685
NM_001079846.1(CREBBP):c.2697G>A (p.Pro899=) rs146168040
NM_001079846.1(CREBBP):c.2736G>A (p.Thr912=) rs141651423
NM_001079846.1(CREBBP):c.2836A>T (p.Asn946Tyr) rs140406003
NM_001079846.1(CREBBP):c.2859C>T (p.Asp953=) rs142528559
NM_001079846.1(CREBBP):c.333C>T (p.Asn111=) rs150229705
NM_001079846.1(CREBBP):c.3386A>G (p.Tyr1129Cys) rs587783481
NM_001079846.1(CREBBP):c.3410A>G (p.Tyr1137Cys) rs28937315
NM_001079846.1(CREBBP):c.3584+7G>A rs374345970
NM_001079846.1(CREBBP):c.3717C>T (p.Pro1239=) rs141869477
NM_001079846.1(CREBBP):c.3718G>A (p.Glu1240Lys) rs267606752
NM_001079846.1(CREBBP):c.3871C>T (p.Leu1291=) rs149055008
NM_001079846.1(CREBBP):c.4019+19T>C rs202204380
NM_001079846.1(CREBBP):c.4019+4A>G rs372126168
NM_001079846.1(CREBBP):c.4166+8T>C rs376814421
NM_001079846.1(CREBBP):c.4222C>T (p.Arg1408Cys) rs398124146
NM_001079846.1(CREBBP):c.4236C>T (p.Tyr1412=) rs144832179
NM_001079846.1(CREBBP):c.423T>G (p.Ser141=) rs760605470
NM_001079846.1(CREBBP):c.4325A>G (p.Asp1442Gly) rs886041286
NM_001079846.1(CREBBP):c.4345C>T (p.His1449Tyr) rs1057519207
NM_001079846.1(CREBBP):c.4380A>G (p.Arg1460=) rs149560660
NM_001079846.1(CREBBP):c.4708C>A (p.Pro1570Thr) rs73491901
NM_001079846.1(CREBBP):c.4922_4924CCT[1] (p.Ser1642del) rs587783502
NM_001079846.1(CREBBP):c.5157C>T (p.Gly1719=) rs190121951
NM_001079846.1(CREBBP):c.5220G>A (p.Ser1740=) rs201062642
NM_001079846.1(CREBBP):c.5242C>T (p.Arg1748Cys) rs1555471394
NM_001079846.1(CREBBP):c.5322C>G (p.Thr1774=) rs61731405
NM_001079846.1(CREBBP):c.5489G>A (p.Arg1830Gln) rs1567263168
NM_001079846.1(CREBBP):c.5500A>G (p.Met1834Val) rs797045037
NM_001079846.1(CREBBP):c.5605G>A (p.Ala1869Thr) rs199990883
NM_001079846.1(CREBBP):c.5686T>C (p.Ser1896Pro) rs587783504
NM_001079846.1(CREBBP):c.5715G>A (p.Pro1905=) rs546554430
NM_001079846.1(CREBBP):c.5723del (p.Pro1908fs) rs587783507
NM_001079846.1(CREBBP):c.5751G>A (p.Ala1917=) rs554810606
NM_001079846.1(CREBBP):c.5889T>C (p.Asn1963=) rs200998860
NM_001079846.1(CREBBP):c.5976G>A (p.Gln1992=) rs374969185
NM_001079846.1(CREBBP):c.6081C>T (p.Ser2027=) rs374150949
NM_001079846.1(CREBBP):c.6130C>T (p.Gln2044Ter) rs1057518789
NM_001079846.1(CREBBP):c.6226G>A (p.Gly2076Ser) rs139169188
NM_001079846.1(CREBBP):c.6402C>T (p.Asn2134=) rs763852812
NM_001079846.1(CREBBP):c.6450G>A (p.Gln2150=) rs73491896
NM_001079846.1(CREBBP):c.6486_6497GCAGCAGCAACA[1] (p.Gln2175_Gln2178del) rs750150018
NM_001079846.1(CREBBP):c.6495A>G (p.Gln2165=) rs62636220
NM_001079846.1(CREBBP):c.6510A>C (p.Gln2170His) rs142545779
NM_001079846.1(CREBBP):c.6510A>G (p.Gln2170=) rs142545779
NM_001079846.1(CREBBP):c.6571G>A (p.Gly2191Ser) rs139688311
NM_001079846.1(CREBBP):c.6735C>T (p.Ser2245=) rs148904096
NM_001079846.1(CREBBP):c.681T>C (p.Pro227=) rs201193684
NM_001079846.1(CREBBP):c.711C>T (p.Ser237=) rs146049063
NM_001079846.1(CREBBP):c.7188G>A (p.Thr2396=) rs144609433
NM_001079846.1(CREBBP):c.760G>A (p.Ala254Thr) rs148781922
NM_001079846.1(CREBBP):c.879G>A (p.Val293=) rs144344016

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