Variants
ADA variants
Predicted effect: Splice site or region. 6 of the 27 ADA variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.
| Variant | Exon or intron | Position (GRCh38) | ClinVar classification | Review status |
|---|---|---|---|---|
| c.219-2A>G | Intron 3 | 44,626,601 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| c.363-2A>G | Intron 4 | 44,625,686 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| c.606+1G>T | Intron 6 | 44,624,201 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| c.975+1G>A | Intron 10 | 44,621,017 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| c.976-1G>C | Intron 10 | 44,620,402 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| c.1078+2T>A | Intron 11 | 44,620,297 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |