List of variants in gene PIDD1 reported as uncertain significance for Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly

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: 11

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_145886.4(PIDD1):c.2042-2A>G	rs199752248	0.00009
NM_145886.4(PIDD1):c.2044C>T (p.Arg682Cys)	rs200290640	0.00007
NM_145886.4(PIDD1):c.277C>T (p.Arg93Cys)	rs573360451	0.00003
NM_145886.4(PIDD1):c.76G>A (p.Gly26Arg)	rs1317011676	0.00001
NM_145886.4(PIDD1):c.1019G>A (p.Gly340Asp)
NM_145886.4(PIDD1):c.1303-10_1303-9insT	rs2495315778
NM_145886.4(PIDD1):c.2017G>C (p.Glu673Gln)	rs1427628817
NM_145886.4(PIDD1):c.2393G>A (p.Arg798His)
NM_145886.4(PIDD1):c.2605G>T (p.Val869Leu)
NM_145886.4(PIDD1):c.744C>G (p.His248Gln)	rs1194551878
NM_145886.4(PIDD1):c.793C>T (p.Leu265Phe)

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.