List of variants reported as pathogenic for polydactyly-syndactyly-triphalangism by Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München

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: 5

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_153704.6(TMEM67):c.2498T>C (p.Ile833Thr)	rs267607119	0.00009
NM_002968.3(SALL1):c.2686_2689dup (p.Val897fs)	rs1597228568
NM_002968.3(SALL1):c.826C>T (p.Arg276Ter)	rs104894537
NM_144643.4(SCLT1):c.1043del (p.Ser348fs)
NM_153704.6(TMEM67):c.579del (p.Gly195fs)	rs386834203

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.