List of variants reported as likely pathogenic for RASopathy by Baylor Genetics

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: 10

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_006767.4(LZTR1):c.848G>A (p.Arg283Gln)	rs1223430276	0.00001
NM_001042492.3(NF1):c.1405A>G (p.Lys469Glu)	rs1555612271
NM_001042492.3(NF1):c.2329T>G (p.Trp777Gly)	rs876658853
NM_001042492.3(NF1):c.5711A>G (p.Asn1904Ser)	rs864622647
NM_002834.5(PTPN11):c.179G>T (p.Gly60Val)	rs397507509
NM_002834.5(PTPN11):c.213T>A (p.Phe71Leu)
NM_004333.6(BRAF):c.1802A>T (p.Lys601Ile)	rs397507484
NM_005188.4(CBL):c.1112A>C (p.Tyr371Ser)	rs387906666
NM_033360.4(KRAS):c.355G>A (p.Asp119Asn)	rs730880471
NM_176795.5(HRAS):c.488_497del (p.Leu163fs)	rs764755556

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.