List of variants reported as uncertain significance for Menke-Hennekam syndrome 2

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 15

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001429.4(EP300):c.1760+20C>T	rs368767822	0.00004
NM_001429.4(EP300):c.5462G>A (p.Arg1821Gln)	rs747329417	0.00001
NM_001429.4(EP300):c.6775G>A (p.Ala2259Thr)	rs374908361	0.00001
NM_001429.4(EP300):c.1498C>A (p.Pro500Thr)
NM_001429.4(EP300):c.1985C>A (p.Ala662Glu)	rs1339311567
NM_001429.4(EP300):c.2053+4A>T	rs1057518889
NM_001429.4(EP300):c.4021G>A (p.Ala1341Thr)	rs2145762936
NM_001429.4(EP300):c.4372C>T (p.Pro1458Ser)	rs1487932572
NM_001429.4(EP300):c.4642G>C (p.Ala1548Pro)
NM_001429.4(EP300):c.5061+4G>A	rs2059201364
NM_001429.4(EP300):c.5192G>A (p.Arg1731His)	rs2059203984
NM_001429.4(EP300):c.6691A>G (p.Met2231Val)
NM_001429.4(EP300):c.6786G>C (p.Gln2262His)	rs2059217082
NM_001429.4(EP300):c.7104C>G (p.Asp2368Glu)
NM_001429.4(EP300):c.7G>A (p.Glu3Lys)	rs181951278

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.