List of variants in gene BCS1L reported as uncertain significance by Counsyl

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

Total variants: 14

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001079866.2(BCS1L):c.547C>T (p.Arg183Cys)	rs144885874	0.00008
NM_001079866.2(BCS1L):c.217C>T (p.Arg73Cys)	rs140812286	0.00006
NM_001079866.2(BCS1L):c.-50+425T>C	rs886055625	0.00004
NM_001079866.2(BCS1L):c.269G>A (p.Arg90His)	rs747956412	0.00003
NM_001079866.2(BCS1L):c.-50+405A>G	rs898301590	0.00002
NM_001079866.2(BCS1L):c.413C>T (p.Thr138Met)	rs775793638	0.00001
NM_001079866.2(BCS1L):c.-49-539T>A	rs386833855
NM_001079866.2(BCS1L):c.1048_1050del (p.Lys350del)	rs906812769
NM_001079866.2(BCS1L):c.1196_1198dup (p.Tyr399dup)	rs1553598193
NM_001079866.2(BCS1L):c.255_257del (p.Gln85del)	rs1553596345
NM_001079866.2(BCS1L):c.291_293del (p.Val98del)	rs1293818477
NM_001079866.2(BCS1L):c.607_615del (p.Arg203_Val205del)	rs1553597114
NM_001079866.2(BCS1L):c.703G>A (p.Gly235Arg)	rs368486097
NM_001079866.2(BCS1L):c.889+2dup	rs1553597661

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.