ClinVar Miner

List of variants reported as likely pathogenic for Heart, malformation of

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
Download table as spreadsheet
NM_000192.3(TBX5):c.301A>T (p.Ile101Phe) rs515726234
NM_002471.3(MYH6):c.2033A>G (p.Asn678Ser) rs515726230
NM_004387.4(NKX2-5):c.335-3C>G rs876657934
NM_004387.4(NKX2-5):c.400_402delinsAT (p.Arg134fs) rs397516908
NM_007363.5(NONO):c.246_249del (p.Pro83fs)
NM_017617.5(NOTCH1):c.2014+1G>A rs515726232
NM_017617.5(NOTCH1):c.5061G>T (p.Gln1687His) rs515726233
NM_017617.5(NOTCH1):c.5281del (p.Arg1761fs) rs515726231

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.