Variants
ADA variants
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.
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 |
|---|---|---|---|---|---|
| A329V | c.986C>T | Exon 11 | 44,620,391 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| 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.603C>A | Exon 6 | 44,624,205 | 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 | |
| E255X | c.763G>T | Exon 8 | 44,622,846 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| G216R | c.646G>A | Exon 7 | 44,623,039 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| G239D | c.716G>A | Exon 8 | 44,622,893 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| K171X | c.511A>T | Exon 6 | 44,624,297 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| L304R | c.911T>G | Exon 10 | 44,621,082 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| P104L | c.311C>T | Exon 4 | 44,626,507 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| P297L | c.890C>T | Exon 10 | 44,621,103 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| Q246X | c.736C>T | Exon 8 | 44,622,873 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R149W | c.445C>T | Exon 5 | 44,625,602 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| R211C | c.631C>T | Exon 7 | 44,623,054 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| R211H | c.632G>A | Exon 7 | 44,623,053 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R235W | c.703C>T | Exon 8 | 44,622,906 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| R282Q | c.845G>A | Exon 9 | 44,622,588 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| S291L | c.872C>T | Exon 10 | 44,621,121 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| V133Sfs*38 | c.396dup | Exon 5 | 44,625,650 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| V178X | c.532del | Exon 6 | 44,624,275 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| Y67X | c.201C>G | Exon 3 | 44,629,064 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| Y172X | c.516C>A | Exon 6 | 44,624,292 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| Y201X | c.603C>G | Exon 6 | 44,624,205 | Pathogenic | 3 stars out of 4 reviewed by expert panel |