List of variants reported as likely pathogenic for Young-onset Parkinson disease

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: 16

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_004562.3(PRKN):c.1289G>A (p.Gly430Asp)	rs191486604	0.00013
NM_020821.3(VPS13C):c.1111C>T (p.Arg371Ter)	rs752457309	0.00002
NM_004562.3(PRKN):c.1288G>A (p.Gly430Ser)	rs1226997153	0.00001
NM_004562.3(PRKN):c.1A>G (p.Met1Val)	rs772786691	0.00001
NM_007262.5(PARK7):c.460A>G (p.Thr154Ala)	rs1472900688	0.00001
GRCh37/hg19 6q26(chr6:162206818-162206900)
GRCh37/hg19 6q26(chr6:162475128-162475157)
GRCh37/hg19 6q26(chr6:162683576-162683772)
GRCh37/hg19 6q26(chr6:162864400-162864441)
NM_020821.3(VPS13C):c.1119G>A (p.Trp373Ter)	rs2046893100
NM_020821.3(VPS13C):c.2408+1G>A
NM_020821.3(VPS13C):c.3331G>T (p.Gly1111Ter)
NM_020821.3(VPS13C):c.3908+2T>C
NM_020821.3(VPS13C):c.4165G>C (p.Gly1389Arg)	rs369100678
NM_020821.3(VPS13C):c.5462T>A (p.Leu1821Ter)
NM_020821.3(VPS13C):c.5698C>T (p.Gln1900Ter)

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.