ClinVar Miner

List of variants reported as likely pathogenic by Wendy Chung Laboratory,Columbia University Medical Center

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
Download table as spreadsheet
NM_001127217.2(SMAD9):c.204C>A (p.Cys68Ter) rs146583835
NM_001204.7(BMPR2):c.1276+1G>A rs767070218
NM_001204.7(BMPR2):c.529+1G>A rs1553508187
NM_001321120.2(TBX4):c.293C>G (p.Pro98Arg) rs1555882009
NM_001321120.2(TBX4):c.538_547del (p.Pro180fs) rs1555882291
NM_001321120.2(TBX4):c.670_672del (p.Phe224del) rs1555883338
NM_017934.5(PHIP):c.3782+3_3782+6delAAGT rs1131691771
NM_017934.7(PHIP):c.1562A>G (p.Lys521Arg) rs1562171209
NM_017934.7(PHIP):c.686C>T (p.Ser229Leu) rs755604487
NM_017934.7(PHIP):c.860C>A (p.Ser287Tyr) rs1085307845

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.