List of variants reported as pathogenic for Joubert syndrome 8

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

Total variants: 8

Download table as spreadsheet

HGVS	dbSNP
NM_001174150.2(ARL13B):c.236G>A (p.Arg79Gln)	rs121912606
NM_001174150.2(ARL13B):c.246G>A (p.Trp82Ter)	rs121912607
NM_001174150.2(ARL13B):c.257A>G (p.Tyr86Cys)	rs863225430
NM_001174150.2(ARL13B):c.393_396del (p.Gln132fs)	rs1560002959
NM_001174150.2(ARL13B):c.461A>G (p.Asn154Ser)	rs758972393
NM_001174150.2(ARL13B):c.598C>T (p.Arg200Cys)	rs121912608
NM_001174150.2(ARL13B):c.65T>G (p.Val22Gly)	rs863225149
NM_001174150.2(ARL13B):c.830dup (p.Asn277fs)	rs752472169

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.