List of variants reported as uncertain significance for hereditary spastic paraplegia by New York Genome Center

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

Total variants: 22

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_004722.4(AP4M1):c.407C>T (p.Thr136Met)	rs138131967	0.00043
NM_001244008.2(KIF1A):c.4771C>T (p.Arg1591Trp)	rs201139273	0.00016
NM_015087.5(SPART):c.364_365del (p.Met122fs)	rs775736341	0.00009
NM_001166114.2(PNPLA6):c.1430C>T (p.Ser477Leu)	rs140929996	0.00004
NM_001166114.2(PNPLA6):c.29C>G (p.Thr10Arg)	rs777466386	0.00004
NM_014946.4(SPAST):c.1813A>G (p.Ile605Val)	rs372900676	0.00002
NM_001122955.4(BSCL2):c.1049G>A (p.Arg350Gln)	rs749917957	0.00001
NM_001244008.2(KIF1A):c.2617C>T (p.Leu873Phe)	rs2050011882	0.00001
NM_020738.4(KIDINS220):c.3955T>C (p.Ser1319Pro)	rs1310173085	0.00001
NM_020738.4(KIDINS220):c.4889A>G (p.His1630Arg)	rs569904858	0.00001
NM_001122955.4(BSCL2):c.1310C>T (p.Ala437Val)	rs751558047
NM_002361.4(MAG):c.562C>T (p.Arg188Trp)	rs2145611265
NM_002860.4(ALDH18A1):c.89-1G>C	rs2139642879
NM_020738.4(KIDINS220):c.1022A>G (p.Lys341Arg)
NM_020738.4(KIDINS220):c.1462G>A (p.Gly488Arg)
NM_020738.4(KIDINS220):c.2593G>A (p.Val865Ile)
NM_020738.4(KIDINS220):c.346C>T (p.Arg116Cys)
NM_020738.4(KIDINS220):c.4550A>G (p.Gln1517Arg)
NM_020738.4(KIDINS220):c.4835C>A (p.Ala1612Glu)
NM_020738.4(KIDINS220):c.4850T>C (p.Leu1617Pro)	rs1664034594
NM_020738.4(KIDINS220):c.517C>T (p.Pro173Ser)
NM_020738.4(KIDINS220):c.560A>G (p.Lys187Arg)

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.