List of variants in gene RTN2 reported as uncertain significance for hereditary spastic paraplegia 12

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: 19

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_005619.5(RTN2):c.1630G>A (p.Ala544Thr)	rs201387324	0.00015
NM_005619.5(RTN2):c.1618T>C (p.Ser540Pro)	rs779865623	0.00006
NM_005619.5(RTN2):c.*344C>T	rs375889892	0.00005
NM_005619.5(RTN2):c.*270C>T	rs527298509	0.00004
NM_005619.5(RTN2):c.1181T>G (p.Leu394Arg)	rs755919124	0.00001
NM_005619.5(RTN2):c.1241+3G>A	rs768120941	0.00001
NM_005619.5(RTN2):c.1339C>T (p.Arg447Trp)	rs764827191	0.00001
NM_005619.5(RTN2):c.1340G>A (p.Arg447Gln)	rs1262346281	0.00001
NM_005619.5(RTN2):c.*148G>A	rs886054503
NM_005619.5(RTN2):c.*300G>C	rs532093070
NM_005619.5(RTN2):c.1034-13C>T	rs1968107976
NM_005619.5(RTN2):c.1185G>A (p.Arg395=)	rs781104615
NM_005619.5(RTN2):c.1192C>G (p.Arg398Gly)
NM_005619.5(RTN2):c.1421T>C (p.Ile474Thr)	rs1968080913
NM_005619.5(RTN2):c.1497+3G>A	rs1318814220
NM_005619.5(RTN2):c.212G>T (p.Gly71Val)
NM_005619.5(RTN2):c.847C>T (p.Leu283Phe)
NM_005619.5(RTN2):c.938dup (p.Thr314fs)	rs748397131
NM_005619.5(RTN2):c.943C>A (p.Pro315Thr)	rs765944441

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.