List of variants reported as likely pathogenic for Basal ganglia calcification, idiopathic, 7, autosomal recessive

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: 11

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_020702.5(MYORG):c.103A>G (p.Met35Val)	rs765483979	0.00002
NM_020702.5(MYORG):c.1086CTTCGA[1] (p.363FD[1])	rs1398218251
NM_020702.5(MYORG):c.1321C>G (p.Arg441Gly)	rs749427106
NM_020702.5(MYORG):c.1328G>A (p.Trp443Ter)	rs868530644
NM_020702.5(MYORG):c.1333C>T (p.Gln445Ter)	rs1563981743
NM_020702.5(MYORG):c.1431C>A (p.Tyr477Ter)	rs1588003652
NM_020702.5(MYORG):c.1788C>G (p.Tyr596Ter)
NM_020702.5(MYORG):c.1873G>T (p.Glu625Ter)
NM_020702.5(MYORG):c.337_348dup (p.Leu113_Arg116dup)	rs775762093
NM_020702.5(MYORG):c.607C>T (p.Gln203Ter)	rs1563982489
NM_020702.5(MYORG):c.701_702del (p.Ala234fs)

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.