List of variants in gene TMEM127 reported as likely pathogenic for Pheochromocytoma

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: 19

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_017849.4(TMEM127):c.268G>A (p.Val90Met)	rs121908823	0.00264
NM_017849.4(TMEM127):c.208G>A (p.Asp70Asn)	rs121908819	0.00073
NM_017849.4(TMEM127):c.280C>T (p.Arg94Trp)	rs121908824	0.00006
NM_017849.4(TMEM127):c.217G>C (p.Gly73Arg)	rs121908820	0.00004
NM_017849.4(TMEM127):c.245-1G>C	rs121908821	0.00004
NM_017849.4(TMEM127):c.158G>C (p.Trp53Ser)	rs121908818	0.00001
NM_017849.4(TMEM127):c.149dup (p.Pro51fs)	rs121908817
NM_017849.4(TMEM127):c.185C>A (p.Ser62Ter)
NM_017849.4(TMEM127):c.208del (p.Asp70fs)
NM_017849.4(TMEM127):c.230del (p.Pro77fs)
NM_017849.4(TMEM127):c.245-1G>T	rs121908821
NM_017849.4(TMEM127):c.265_268del (p.Thr89fs)	rs121908822
NM_017849.4(TMEM127):c.409+1G>T	rs121908825
NM_017849.4(TMEM127):c.410-2A>C	rs121908826
NM_017849.4(TMEM127):c.418T>C (p.Cys140Arg)	rs121908827
NM_017849.4(TMEM127):c.419G>A (p.Cys140Tyr)	rs121908828
NM_017849.4(TMEM127):c.447G>A (p.Trp149Ter)	rs121908829
NM_017849.4(TMEM127):c.475C>T (p.Gln159Ter)	rs121908830
NM_017849.4(TMEM127):c.627_640dup (p.Met214fs)	rs121908831

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.