List of variants in gene PIK3CD reported as pathogenic for hematologic disorder

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 10

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_005026.5(PIK3CD):c.2530A>T (p.Met844Leu)	rs200369205	0.00009
NM_005026.5(PIK3CD):c.1002C>A (p.Asn334Lys)	rs28730670
NM_005026.5(PIK3CD):c.1002C>G (p.Asn334Lys)	rs28730670
NM_005026.5(PIK3CD):c.1570T>A (p.Tyr524Asn)	rs2100954909
NM_005026.5(PIK3CD):c.1571A>C (p.Tyr524Ser)	rs2100954945
NM_005026.5(PIK3CD):c.1573G>A (p.Glu525Lys)	rs587777389
NM_005026.5(PIK3CD):c.1574A>G (p.Glu525Gly)	rs1557669079
NM_005026.5(PIK3CD):c.3061G>A (p.Glu1021Lys)	rs397518423
NM_005026.5(PIK3CD):c.3074A>G (p.Glu1025Gly)	rs1064795762
NM_005026.5(PIK3CD):c.419G>A (p.Arg140His)

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.