Variants in gene CREBBP with conflicting interpretations "pathogenic" and "likely pathogenic"

Submission 1 (pathogenic) minimum review status:		Submission 1 (pathogenic) method:
Submission 2 (likely pathogenic) minimum review status:		Submission 2 (likely pathogenic) method:
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants with conflicting interpretations: 14

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_004380.3(CREBBP):c.5356C>T (p.Arg1786Cys)	rs1555471394	0.00001
NM_004380.3(CREBBP):c.3524A>G (p.Tyr1175Cys)	rs28937315
NM_004380.3(CREBBP):c.3779+1G>C	rs587783483
NM_004380.3(CREBBP):c.3832G>A (p.Glu1278Lys)	rs267606752
NM_004380.3(CREBBP):c.4133G>C (p.Arg1378Pro)	rs121434626
NM_004380.3(CREBBP):c.4336C>T (p.Arg1446Cys)	rs398124146
NM_004380.3(CREBBP):c.4890+2T>C	rs786205495
NM_004380.3(CREBBP):c.5036CCT[1] (p.Ser1680del)	rs587783502
NM_004380.3(CREBBP):c.5158T>C (p.Cys1720Arg)	rs2051906390
NM_004380.3(CREBBP):c.5345C>T (p.Ala1782Val)	rs2051858361
NM_004380.3(CREBBP):c.5603G>A (p.Arg1868Gln)	rs1567263168
NM_004380.3(CREBBP):c.5614A>G (p.Met1872Val)	rs797045037
NM_004380.3(CREBBP):c.5837dup (p.Pro1947fs)	rs587783507
NM_004380.3(CREBBP):c.6241C>T (p.Gln2081Ter)	rs886041518

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.