List of variants in gene NALCN reported as likely pathogenic for congenital contractures of the limbs and face, hypotonia, and developmental delay

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: 16

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_052867.4(NALCN):c.1571G>A (p.Ser524Asn)	rs1566460907
NM_052867.4(NALCN):c.1639A>G (p.Met547Val)	rs1057519432
NM_052867.4(NALCN):c.1799A>G (p.Asp600Gly)	rs1594368726
NM_052867.4(NALCN):c.1800C>A (p.Asp600Glu)	rs1566385468
NM_052867.4(NALCN):c.1838A>G (p.Gln613Arg)	rs2139938444
NM_052867.4(NALCN):c.3050T>G (p.Ile1017Ser)
NM_052867.4(NALCN):c.3064A>G (p.Ile1022Val)	rs1555381108
NM_052867.4(NALCN):c.3345A>C (p.Lys1115Asn)
NM_052867.4(NALCN):c.3542G>A (p.Arg1181Gln)	rs786201003
NM_052867.4(NALCN):c.3731T>G (p.Met1244Arg)	rs2139514134
NM_052867.4(NALCN):c.4327G>A (p.Val1443Ile)
NM_052867.4(NALCN):c.4755+1G>T	rs1158141270
NM_052867.4(NALCN):c.500T>A (p.Ile167Asn)	rs2139420897
NM_052867.4(NALCN):c.518G>A (p.Arg173Gln)
NM_052867.4(NALCN):c.883del (p.Arg295fs)	rs2043584001
NM_052867.4(NALCN):c.985A>G (p.Arg329Gly)	rs1057516040

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.