List of variants reported as pathogenic for nervous system cancer by Baylor 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_000321.3(RB1):c.1338C>A (p.Tyr446Ter)	rs1593455621
NM_000321.3(RB1):c.1960+1G>A	rs1949360306
NM_000321.3(RB1):c.607+1G>A	rs587776789
NM_000321.3(RB1):c.763C>T (p.Arg255Ter)	rs587778842
NM_000321.3(RB1):c.963del (p.Arg320_Tyr321insTer)	rs1952715820
NM_003072.5(SMARCA4):c.2932C>T (p.Arg978Ter)	rs1064796254
NM_003072.5(SMARCA4):c.3480dup (p.Leu1161fs)	rs797045982
NM_003072.5(SMARCA4):c.3565C>T (p.Arg1189Ter)	rs267607070
NM_017841.4(SDHAF2):c.232G>A (p.Gly78Arg)	rs113560320

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.