List of variants reported as pathogenic for lymphoid system disorder by Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand

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: 16

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys)	rs121918459	0.00001
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp)	rs28933386	0.00001
NM_002524.5(NRAS):c.173C>T (p.Thr58Ile)	rs2101742052
NM_002834.5(PTPN11):c.1510A>G (p.Met504Val)	rs397507547
NM_002834.5(PTPN11):c.182A>G (p.Asp61Gly)	rs121918461
NM_002834.5(PTPN11):c.211T>C (p.Phe71Leu)	rs397507512
NM_002834.5(PTPN11):c.215C>G (p.Ala72Gly)	rs121918454
NM_002834.5(PTPN11):c.228G>T (p.Glu76Asp)	rs397507514
NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser)	rs121918455
NM_002880.4(RAF1):c.770C>T (p.Ser257Leu)	rs80338796
NM_002880.4(RAF1):c.781C>A (p.Pro261Thr)	rs121434594
NM_004333.6(BRAF):c.722C>T (p.Thr241Met)	rs387906660
NM_004333.6(BRAF):c.736G>C (p.Ala246Pro)	rs180177034
NM_004333.6(BRAF):c.770A>G (p.Gln257Arg)	rs180177035
NM_005633.4(SOS1):c.1649T>C (p.Leu550Pro)	rs397517153
NM_005633.4(SOS1):c.806T>C (p.Met269Thr)	rs137852813

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.