List of variants reported as pathogenic for Pontocerebellar hypoplasia type 2D

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: 7

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_016955.4(SEPSECS):c.715G>A (p.Ala239Thr)	rs267607035	0.00001
NM_000282.4(PCCA):c.425G>A (p.Gly142Asp)	rs796052019
NM_016955.4(SEPSECS):c.1001A>G (p.Tyr334Cys)	rs267607036
NM_016955.4(SEPSECS):c.114+3A>G
NM_016955.4(SEPSECS):c.1466A>T (p.Asp489Val)	rs773876739
NM_016955.4(SEPSECS):c.1A>T (p.Met1Leu)	rs1025711998
NM_016955.5(SEPSECS):c.808dup	rs776969714

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.