Variants
PIK3CD variants
The 12 PIK3CD variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
| Variant | HGVS c. | Exon or intron | Position (GRCh38) | ClinVar classification | Review status |
|---|---|---|---|---|---|
| c.1002C>G | Exon 8 | 9,717,608 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| C416R | c.1246T>C | Exon 10 | 9,719,924 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| E81K | c.241G>A | Exon 4 | 9,715,640 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| E525A | c.1574A>C | Exon 13 | 9,720,794 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| E525G | c.1574A>G | Exon 13 | 9,720,794 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| E525K | c.1573G>A | Exon 13 | 9,720,793 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E1021K | c.3061G>A | Exon 24 | 9,726,972 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E1025G | c.3074A>G | Exon 24 | 9,726,985 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| G124D | c.371G>A | Exon 5 | 9,715,849 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| N334K | c.1002C>A | Exon 8 | 9,717,608 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| Y524N | c.1570T>A | Exon 13 | 9,720,790 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| Y524S | c.1571A>C | Exon 13 | 9,720,791 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |