List of variants reported as uncertain significance for Neuroblastoma, susceptibility to, 2; Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease by Fulgent Genetics, Fulgent 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: 9

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_003924.4(PHOX2B):c.683G>T (p.Gly228Val)	rs1335294030	0.00002
NM_003924.4(PHOX2B):c.865G>A (p.Gly289Ser)	rs769663483	0.00001
NM_003924.4(PHOX2B):c.242-5_242-2dup	rs1553898065
NM_003924.4(PHOX2B):c.617C>G (p.Pro206Arg)	rs587778606
NM_003924.4(PHOX2B):c.639CGG[5] (p.Gly217dup)	rs760638643
NM_003924.4(PHOX2B):c.691G>A (p.Gly231Ser)	rs1577559082
NM_003924.4(PHOX2B):c.694C>A (p.Pro232Thr)	rs1433654836
NM_003924.4(PHOX2B):c.716G>A (p.Gly239Asp)	rs1577559052
NM_003924.4(PHOX2B):c.860T>C (p.Leu287Pro)

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.