List of variants reported as pathogenic for embryonal neoplasm 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: 15

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_003640.5(ELP1):c.2204+6T>C	rs111033171	0.00051
NM_003640.5(ELP1):c.2824C>T (p.Arg942Ter)	rs761911009	0.00001
NM_024426.6(WT1):c.1120C>T (p.Arg374Ter)	rs1423753702	0.00001
NC_000011.9:g.(?_32409321)_(32457085_?)del
NM_000264.5(PTCH1):c.2244del (p.Ala749fs)	rs1564032829
NM_003072.5(SMARCA4):c.1757_1760del (p.Lys586fs)	rs1342399494
NM_003072.5(SMARCA4):c.3277C>T (p.Arg1093Ter)	rs1600335765
NM_003640.5(ELP1):c.3286-1G>A
NM_004304.5(ALK):c.3824G>A (p.Arg1275Gln)	rs113994087
NM_024426.6(WT1):c.1399C>T (p.Arg467Trp)	rs121907900
NM_024426.6(WT1):c.716_722del (p.His239fs)
NM_024426.6(WT1):c.834dup (p.Thr279fs)	rs2133072543
NM_177438.3(DICER1):c.2026C>T (p.Arg676Ter)	rs878855246
NM_177438.3(DICER1):c.3007C>T (p.Arg1003Ter)	rs1060503605
NM_177438.3(DICER1):c.4458dup (p.Ser1487fs)	rs1131691197

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.