Variants in gene VPS13B with conflicting interpretations "pathogenic" and "uncertain significance"

Submission 1 (pathogenic) minimum review status:		Submission 1 (pathogenic) method:
Submission 2 (uncertain significance) minimum review status:		Submission 2 (uncertain significance) method:
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants with conflicting interpretations: 12

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_152564.5(VPS13B):c.8903A>G (p.Asn2968Ser)	rs28940272	0.00396
NM_017890.5(VPS13B):c.4186C>T (p.Gln1396Ter)	rs559590419	0.00001
NM_017890.5(VPS13B):c.4246C>T (p.Arg1416Ter)	rs145741622	0.00001
NM_152564.5(VPS13B):c.5220G>T (p.Glu1740Asp)	rs780598553	0.00001
NM_017890.5(VPS13B):c.4289dup (p.Phe1431fs)	rs1427643616
NM_152564.5(VPS13B):c.11673_11674del (p.Ala3892fs)	rs1180933570
NM_152564.5(VPS13B):c.11850_11853dup (p.Pro3952fs)	rs1554590433
NM_152564.5(VPS13B):c.3240del (p.Pro1081fs)	rs764544747
NM_152564.5(VPS13B):c.5908+2dup	rs587777381
NM_152564.5(VPS13B):c.7859G>A (p.Gly2620Asp)	rs120074153
NM_152564.5(VPS13B):c.8384T>C (p.Ile2795Thr)	rs120074155
NM_152564.5(VPS13B):c.9331-1G>T	rs386834119

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.