Variants
UBE3A variants
The 15 UBE3A 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.2125-1G>A | Intron 9 | 25,354,684 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| E403X | c.1207G>T | Exon 6 | 25,370,967 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| F474Yfs*19 | c.1421_1422del | Exon 6 | 25,370,751 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| G815E | c.2444G>A | Exon 12 | 25,340,139 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| G870D | c.2609G>A | Exon 13 | 25,339,147 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| K856Rfs*4 | c.2567_2570del | Exon 13 | 25,339,185 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| L855_K856del | c.2563_2568del | Exon 13 | 25,339,187 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| L855F | c.2563C>T | Exon 13 | 25,339,193 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| M21T | c.62T>C | Exon 4 | 25,405,461 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| N622S | c.1865A>G | Exon 8 | 25,356,785 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| R526C | c.1576C>T | Exon 6 | 25,370,598 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| S209X | c.626C>G | Exon 6 | 25,371,548 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| S602del | c.1805_1807del | Exon 8 | 25,356,842 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| T126K | c.377C>A | Exon 6 | 25,371,797 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| W788X | c.2364G>A | Exon 12 | 25,340,219 | Pathogenic | 3 stars out of 4 reviewed by expert panel |