List of variants reported as pathogenic for CEBALID syndrome

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: 20

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_002430.3(MN1):c.1415C>A (p.Ser472Ter)	rs1933378166
NM_002430.3(MN1):c.2464C>T (p.Gln822Ter)
NM_002430.3(MN1):c.3555C>A (p.Cys1185Ter)	rs1933308051
NM_002430.3(MN1):c.3744G>A (p.Trp1248Ter)	rs1297805962
NM_002430.3(MN1):c.3745G>T (p.Glu1249Ter)	rs761317200
NM_002430.3(MN1):c.3778G>T (p.Glu1260Ter)	rs1933302820
NM_002430.3(MN1):c.3794del (p.Pro1265fs)
NM_002430.3(MN1):c.3817C>T (p.Gln1273Ter)	rs1601319615
NM_002430.3(MN1):c.3835C>T (p.Gln1279Ter)	rs1601319598
NM_002430.3(MN1):c.3846_3849del (p.Val1283fs)	rs1601319584
NM_002430.3(MN1):c.3870_3879dup (p.Ala1294Ter)	rs1601319538
NM_002430.3(MN1):c.3883C>T (p.Arg1295Ter)	rs147334255
NM_002430.3(MN1):c.3900del (p.Trp1301fs)	rs1932758693
NM_002430.3(MN1):c.3903G>A (p.Trp1301Ter)	rs1601319501
NM_004958.4(MTOR):c.4448G>A (p.Cys1483Tyr)	rs786205165
NM_004958.4(MTOR):c.5395G>A (p.Glu1799Lys)	rs863225264
NM_004958.4(MTOR):c.5930C>T (p.Thr1977Ile)	rs587777893
NM_004958.4(MTOR):c.7255G>A (p.Glu2419Lys)	rs587777900
NM_004958.4(MTOR):c.7280T>C (p.Leu2427Pro)	rs1085307113
NM_004958.4(MTOR):c.7501A>T (p.Ile2501Phe)	rs968817513

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.