Variants with conflicting interpretations "pathogenic" from Pediatric Genetics Clinic, Sheba Medical Center and "likely pathogenic" from any submitter

Minimum review status of the submission from Pediatric Genetics Clinic, Sheba Medical Center:		Collection method of the submission from Pediatric Genetics Clinic, Sheba Medical Center:
Minimum review status of the other submission:		Collection method of the other submission:
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants with conflicting interpretations: 14

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_012472.6(DNAAF11):c.436G>C (p.Asp146His)	rs200321595	0.00011
NM_020964.3(EPG5):c.1007A>G (p.Gln336Arg)	rs201757275	0.00002
NM_207346.3(TSEN54):c.371G>T (p.Gly124Val)	rs774157225	0.00002
NM_001032221.6(STXBP1):c.236C>T (p.Pro79Leu)	rs1588302912
NM_001303052.2(MYT1L):c.1706G>A (p.Arg569Gln)	rs878853045
NM_001321075.3(DLG4):c.1083G>A (p.Ser361=)	rs1227093654
NM_001371928.1(AHDC1):c.2062C>T (p.Arg688Ter)	rs1165205177
NM_001374828.1(ARID1B):c.2603_2606del (p.Arg868fs)	rs1085307695
NM_002715.4(PPP2CA):c.667G>C (p.Asp223His)	rs1580636668
NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys)
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp)	rs398123009
NM_020822.3(KCNT1):c.1421G>A (p.Arg474His)
NM_020928.2(ZSWIM6):c.2737C>T (p.Arg913Ter)	rs1554041295
NM_152564.5(VPS13B):c.11831_11841delinsG (p.Pro3944fs)	rs786204456

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.