List of variants in gene UBE3B reported as pathogenic for multiple congenital anomalies/dysmorphic syndrome-intellectual disability

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

Total variants: 27

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_130466.4(UBE3B):c.61G>T (p.Glu21Ter)	rs775981553	0.00003
NM_130466.3(UBE3B):c.[1773delC];[1A>G]
NM_130466.4(UBE3B):c.1741+2T>C	rs398123020
NM_130466.4(UBE3B):c.1956+1G>A	rs1304422857
NM_130466.4(UBE3B):c.1957-1G>A
NM_130466.4(UBE3B):c.2061del (p.Ser688fs)	rs2136030901
NM_130466.4(UBE3B):c.2098C>T (p.Gln700Ter)	rs2136063413
NM_130466.4(UBE3B):c.2172dup (p.Ile725fs)	rs765785230
NM_130466.4(UBE3B):c.2180A>C (p.Gln727Pro)	rs398123023
NM_130466.4(UBE3B):c.2223_2224del (p.Arg741fs)	rs398123021
NM_130466.4(UBE3B):c.2228_2229del (p.Val742_Phe743insTer)	rs758821239
NM_130466.4(UBE3B):c.2302del (p.His768fs)	rs2136066523
NM_130466.4(UBE3B):c.2335G>A (p.Gly779Arg)	rs2136067033
NM_130466.4(UBE3B):c.2547C>A (p.Tyr849Ter)
NM_130466.4(UBE3B):c.2568+1G>A	rs1555269815
NM_130466.4(UBE3B):c.2569-2A>C
NM_130466.4(UBE3B):c.2624dup (p.Asn875fs)	rs2136102483
NM_130466.4(UBE3B):c.2923-1G>T	rs1409120511
NM_130466.4(UBE3B):c.2990G>C (p.Arg997Pro)	rs539407162
NM_130466.4(UBE3B):c.3065_3078delinsC (p.Arg1022fs)
NM_130466.4(UBE3B):c.343-1G>A	rs918170054
NM_130466.4(UBE3B):c.351T>G (p.Tyr117Ter)	rs1592882265
NM_130466.4(UBE3B):c.518C>A (p.Ser173Ter)
NM_130466.4(UBE3B):c.545-2A>G	rs398123022
NM_130466.4(UBE3B):c.556C>T (p.Arg186Ter)	rs1566078009
NM_130466.4(UBE3B):c.739_742del (p.Asp247fs)
NM_130466.4(UBE3B):c.[1445T>A;1616T>C]

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.