Variants
DSP variants
Predicted effect: Splice site or region. 8 of the 78 DSP 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 | Exon or intron | Position (GRCh38) | ClinVar classification | Review status |
|---|---|---|---|---|
| c.170+1G>A | Intron 1 | 7,542,086 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| c.273+1G>A | Intron 2 | 7,555,821 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| c.939+1G>A | Intron 7 | 7,565,521 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| c.1574+1G>A | Intron 12 | 7,569,341 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| c.2130+1G>A | Intron 15 | 7,572,069 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| c.2298-2A>C | Intron 16 | 7,574,655 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| c.2436+2T>C | Intron 17 | 7,574,797 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| c.2437-1G>C | Intron 17 | 7,575,294 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |