List of variants in gene SALL1 reported as pathogenic by GeneDx

Minimum submission review status:		Collection method:
Minimum conflict level:
Gene type:		Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 7

Download table as spreadsheet

HGVS	dbSNP
NM_001127892.1(SALL1):c.577_578TC[3] (p.Gln194fs)	rs886041236
NM_002968.2(SALL1):c.1380_1381del (p.Ser460fs)	rs1064796960
NM_002968.2(SALL1):c.1393C>T (p.Gln465Ter)	rs1057518273
NM_002968.2(SALL1):c.1763dup (p.Gly589fs)	rs1057518232
NM_002968.2(SALL1):c.3099_3105dup (p.Arg1036fs)	rs886042011
NM_002968.2(SALL1):c.3414_3415del (p.Cys1139fs)	rs1064793257
NM_002968.2(SALL1):c.814C>T (p.Gln272Ter)	rs1555475342

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.