Variants in gene PPT1 with conflicting interpretations "likely pathogenic" and "uncertain significance"

Submission 1 (likely pathogenic) minimum review status:		Submission 1 (likely 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: 7

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000310.4(PPT1):c.413C>T (p.Ser138Leu)	rs386833646	0.00005
NM_000310.4(PPT1):c.287G>A (p.Cys96Tyr)	rs386833640	0.00002
NM_000310.4(PPT1):c.272A>C (p.Gln91Pro)	rs386833639	0.00001
NM_000310.4(PPT1):c.722C>T (p.Ser241Leu)	rs746043871	0.00001
NM_000310.4(PPT1):c.125G>A (p.Gly42Glu)	rs386833631
NM_000310.4(PPT1):c.362+5G>A	rs796052924
NM_000310.4(PPT1):c.674T>C (p.Phe225Ser)	rs386833662

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.