List of variants reported as pathogenic for Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies

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: 14

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NG_029108.1:g.120078_181902dup
NM_170675.5(MEIS2):c.122_126delinsTGA (p.His41fs)
NM_170675.5(MEIS2):c.454C>T (p.Gln152Ter)
NM_170675.5(MEIS2):c.520C>T (p.Arg174Ter)	rs1555471981
NM_170675.5(MEIS2):c.611C>G (p.Ser204Ter)	rs749346955
NM_170675.5(MEIS2):c.639+1G>A	rs2140088419
NM_170675.5(MEIS2):c.654G>A (p.Trp218Ter)
NM_170675.5(MEIS2):c.751C>T (p.Gln251Ter)	rs2141917789
NM_170675.5(MEIS2):c.825dup (p.Arg276fs)	rs1555456994
NM_170675.5(MEIS2):c.905C>T (p.Pro302Leu)	rs1064793383
NM_170675.5(MEIS2):c.934_937del (p.Leu312fs)	rs1595790647
NM_170675.5(MEIS2):c.977+2T>G	rs2141389679
NM_170675.5(MEIS2):c.992G>A (p.Arg331Lys)	rs2141225123
NM_170675.5(MEIS2):c.992GAA[2] (p.Arg333del)	rs879255264

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.