List of variants in gene RIT1 reported as likely pathogenic for Noonan syndrome

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

Total variants: 20

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_006912.6(RIT1):c.251C>T (p.Ala84Val)	rs869025196	0.00001
NM_006912.6(RIT1):c.113C>A (p.Thr38Asn)
NM_006912.6(RIT1):c.113C>G (p.Thr38Ser)	rs2102590960
NM_006912.6(RIT1):c.116T>G (p.Met39Arg)	rs2102590945
NM_006912.6(RIT1):c.151G>T (p.Asp51Tyr)	rs869025190
NM_006912.6(RIT1):c.229G>A (p.Ala77Thr)	rs869025191
NM_006912.6(RIT1):c.229G>C (p.Ala77Pro)	rs869025191
NM_006912.6(RIT1):c.230C>G (p.Ala77Gly)	rs1673399238
NM_006912.6(RIT1):c.233G>A (p.Gly78Glu)	rs1557960268
NM_006912.6(RIT1):c.235C>G (p.Gln79Glu)
NM_006912.6(RIT1):c.242A>G (p.Glu81Gly)	rs869025193
NM_006912.6(RIT1):c.244T>G (p.Phe82Val)	rs869025194
NM_006912.6(RIT1):c.246T>G (p.Phe82Leu)	rs730881014
NM_006912.6(RIT1):c.247A>C (p.Thr83Pro)	rs869025195
NM_006912.6(RIT1):c.268A>C (p.Met90Leu)	rs1557960039
NM_006912.6(RIT1):c.268A>G (p.Met90Val)
NM_006912.6(RIT1):c.270G>A (p.Met90Ile)	rs483352822
NM_006912.6(RIT1):c.270G>C (p.Met90Ile)	rs483352822
NM_006912.6(RIT1):c.365G>T (p.Arg122Leu)	rs777520196
NM_006912.6(RIT1):c.91G>C (p.Gly31Arg)	rs1571999498

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.