List of variants reported as pathogenic for Fanconi anemia complementation group N; Pancreatic cancer, susceptibility to, 3; Breast-ovarian cancer, familial, susceptibility to, 5

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: 17

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_024675.4(PALB2):c.2167_2168del (p.Met723fs)	rs587776416	0.00002
NM_024675.4(PALB2):c.3113G>A (p.Trp1038Ter)	rs180177132	0.00002
NM_024675.4(PALB2):c.3256C>T (p.Arg1086Ter)	rs587776527	0.00002
NM_024675.4(PALB2):c.1240C>T (p.Arg414Ter)	rs180177100	0.00001
NM_024675.4(PALB2):c.196C>T (p.Gln66Ter)	rs180177083	0.00001
NM_024675.4(PALB2):c.395del (p.Val132fs)	rs180177085	0.00001
NM_024675.4(PALB2):c.751C>T (p.Gln251Ter)	rs180177091	0.00001
NM_024675.4(PALB2):c.1037_1041del (p.Lys346fs)	rs587776410
NM_024675.4(PALB2):c.1919C>A (p.Ser640Ter)	rs760094988
NM_024675.4(PALB2):c.1924del (p.Met642fs)	rs730881865
NM_024675.4(PALB2):c.2835-1G>C	rs515726099
NM_024675.4(PALB2):c.2938del (p.Ser980fs)	rs1555459540
NM_024675.4(PALB2):c.2968G>T (p.Glu990Ter)	rs876659036
NM_024675.4(PALB2):c.3507_3508del (p.His1170fs)	rs587776428
NM_024675.4(PALB2):c.444del (p.Lys149fs)	rs1555461796
NM_024675.4(PALB2):c.72del (p.Arg26fs)	rs180177142
NM_024675.4(PALB2):c.757_758del (p.Leu253fs)	rs180177092

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.