Variants in gene KRIT1 with conflicting interpretations "likely pathogenic" and "pathogenic"

Submission 1 (likely pathogenic) minimum review status:		Submission 1 (likely pathogenic) method:
Submission 2 (pathogenic) minimum review status:		Submission 2 (pathogenic) 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: 11

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_194454.3(KRIT1):c.850C>T (p.Arg284Ter)	rs374662170	0.00001
NM_194454.3(KRIT1):c.146_147del (p.Arg49fs)	rs1057518665
NM_194454.3(KRIT1):c.1524_1528del (p.Arg510fs)	rs1057517754
NM_194454.3(KRIT1):c.1561C>T (p.Gln521Ter)	rs2131435199
NM_194454.3(KRIT1):c.1927C>T (p.Gln643Ter)	rs1563240592
NM_194454.3(KRIT1):c.1A>G (p.Met1Val)	rs1554539120
NM_194454.3(KRIT1):c.2043del (p.Lys682fs)	rs1563212150
NM_194454.3(KRIT1):c.410A>G (p.Asp137Gly)	rs137853139
NM_194454.3(KRIT1):c.715C>T (p.Gln239Ter)	rs886043300
NM_194454.3(KRIT1):c.729+1G>A	rs1563305064
Single allele

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.