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
365 49 0 25 11 0 4 37

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 4 1 1 1
likely pathogenic 4 0 2 0 0
uncertain significance 1 2 0 10 3
likely benign 1 0 10 0 21
benign 1 0 3 21 0

All variants with conflicting interpretations #

Total variants: 37
Download table as spreadsheet
HGVS dbSNP
NM_004380.2(CREBBP):c.1149G>A (p.Pro383=) rs61759495
NM_004380.2(CREBBP):c.1651C>A (p.Leu551Ile) rs61753381
NM_004380.2(CREBBP):c.1732C>T (p.Pro578Ser) rs148023511
NM_004380.2(CREBBP):c.2678C>T (p.Ser893Leu) rs142047649
NM_004380.2(CREBBP):c.2728A>G (p.Thr910Ala) rs143247685
NM_004380.2(CREBBP):c.2728A>T (p.Thr910Ser) rs143247685
NM_004380.2(CREBBP):c.2811G>A (p.Pro937=) rs146168040
NM_004380.2(CREBBP):c.2973C>T (p.Asp991=) rs142528559
NM_004380.2(CREBBP):c.333C>T (p.Asn111=) rs150229705
NM_004380.2(CREBBP):c.3500A>G (p.Tyr1167Cys) rs587783481
NM_004380.2(CREBBP):c.3698+7G>A rs374345970
NM_004380.2(CREBBP):c.3985C>T (p.Leu1329=) rs149055008
NM_004380.2(CREBBP):c.4133+19T>C rs202204380
NM_004380.2(CREBBP):c.4280+8T>C rs376814421
NM_004380.2(CREBBP):c.4336C>T (p.Arg1446Cys) rs398124146
NM_004380.2(CREBBP):c.4822C>A (p.Pro1608Thr) rs73491901
NM_004380.2(CREBBP):c.5356C>T (p.Arg1786Cys) rs1555471394
NM_004380.2(CREBBP):c.5436C>G (p.Thr1812=) rs61731405
NM_004380.2(CREBBP):c.5603G>A (p.Arg1868Gln)
NM_004380.2(CREBBP):c.5614A>G (p.Met1872Val) rs797045037
NM_004380.2(CREBBP):c.5719G>A (p.Ala1907Thr) rs199990883
NM_004380.2(CREBBP):c.5829G>A (p.Pro1943=) rs546554430
NM_004380.2(CREBBP):c.5837delC (p.Pro1946Hisfs) rs587783507
NM_004380.2(CREBBP):c.6003T>C (p.Asn2001=) rs200998860
NM_004380.2(CREBBP):c.6090G>A (p.Gln2030=) rs374969185
NM_004380.2(CREBBP):c.6244C>T (p.Gln2082Ter) rs1057518789
NM_004380.2(CREBBP):c.6340G>A (p.Gly2114Ser) rs139169188
NM_004380.2(CREBBP):c.6516C>T (p.Asn2172=) rs763852812
NM_004380.2(CREBBP):c.6564G>A (p.Gln2188=) rs73491896
NM_004380.2(CREBBP):c.6609A>G (p.Gln2203=) rs62636220
NM_004380.2(CREBBP):c.6624A>C (p.Gln2208His) rs142545779
NM_004380.2(CREBBP):c.6624A>G (p.Gln2208=) rs142545779
NM_004380.2(CREBBP):c.6685G>A (p.Gly2229Ser) rs139688311
NM_004380.2(CREBBP):c.681T>C (p.Pro227=)
NM_004380.2(CREBBP):c.6849C>T (p.Ser2283=) rs148904096
NM_004380.2(CREBBP):c.760G>A (p.Ala254Thr) rs148781922
NM_004380.2(CREBBP):c.879G>A (p.Val293=) rs144344016

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