List of variants reported as uncertain significance for immune system cancer by St. Jude Molecular Pathology, St. Jude Children's Research Hospital

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: 12

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_004364.5(CEBPA):c.724G>A (p.Gly242Ser)	rs530569305	0.00031
NM_000264.5(PTCH1):c.2059G>A (p.Val687Met)	rs374691153	0.00015
NM_017849.4(TMEM127):c.121A>G (p.Ile41Val)	rs760633411	0.00006
NM_004364.5(CEBPA):c.107G>A (p.Gly36Asp)	rs746522150	0.00004
NM_000368.5(TSC1):c.3439A>G (p.Ser1147Gly)	rs768624733	0.00003
NM_001042492.3(NF1):c.2747A>G (p.Asn916Ser)	rs765043916	0.00003
NM_004364.5(CEBPA):c.1046_1048del (p.Ser349del)
NM_004364.5(CEBPA):c.296GCG[8] (p.Gly103_Gly104dup)	rs780345232
NM_004364.5(CEBPA):c.646A>G (p.Thr216Ala)	rs1600022240
NM_004364.5(CEBPA):c.926A>G (p.Glu309Gly)	rs1568419235
NM_017849.4(TMEM127):c.31G>T (p.Gly11Cys)	rs992633976
NM_024426.6(WT1):c.950G>A (p.Gly317Glu)	rs1564987636

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.