List of variants reported as pathogenic for lymphatic system disorder by Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center

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: 6

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000271.5(NPC1):c.2861C>T (p.Ser954Leu)	rs543206298	0.00010
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln)	rs376607329	0.00003
NM_004333.6(BRAF):c.1914T>G (p.Asp638Glu)	rs180177042
NM_004523.4(KIF11):c.1039_1040del (p.Leu347fs)	rs730882061
NM_005633.4(SOS1):c.1655G>A (p.Arg552Lys)	rs397517154
NM_006767.4(LZTR1):c.2348_2351del (p.Thr783fs)	rs587777179

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.