Variants in gene SIK1 with conflicting interpretations "uncertain significance" and "likely benign"

Submission 1 (uncertain significance) minimum review status:		Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status:		Submission 2 (likely benign) method:
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants with conflicting interpretations: 8

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_173354.5(SIK1):c.2159C>T (p.Pro720Leu)	rs547049916	0.00032
NM_173354.5(SIK1):c.1457C>T (p.Ala486Val)	rs369897512	0.00010
NM_173354.5(SIK1):c.1934G>A (p.Arg645Gln)	rs34614061	0.00006
NM_173354.5(SIK1):c.1055A>G (p.Gln352Arg)	rs767076281	0.00005
NM_173354.5(SIK1):c.2034G>T (p.Gln678His)	rs775749558	0.00002
NM_173354.5(SIK1):c.1463G>A (p.Cys488Tyr)	rs769962713
NM_173354.5(SIK1):c.1538C>T (p.Ala513Val)	rs200402559
NM_173354.5(SIK1):c.468G>A (p.Leu156=)	rs2081056659

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.