List of variants reported as pathogenic for benign neoplasm by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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: 9

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000368.5(TSC1):c.2356C>T (p.Arg786Ter)	rs118203682
NM_000551.4(VHL):c.194C>T (p.Ser65Leu)	rs5030826
NM_000969.5(RPL5):c.74-1G>C	rs1553284997
NM_001370259.2(MEN1):c.371_372del (p.Val124fs)	rs1555166368
NM_001370259.2(MEN1):c.654+1del	rs1057518903
NM_023110.3(FGFR1):c.1671del (p.Leu557fs)	rs1816433701
NM_031443.4(CCM2):c.354C>G (p.Tyr118Ter)	rs765548101
NM_053274.3(GLMN):c.108C>A (p.Cys36Ter)	rs770780171
NM_194454.3(KRIT1):c.902C>G (p.Ser301Ter)	rs1554527169

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.