Variants
MECP2 variants
The 45 MECP2 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 |
|---|---|---|---|---|---|
| A143D | c.428C>A | Exon 3 | 154,031,436 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A291V | c.872C>T | Exon 3 | 154,030,992 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| c.1A>T | Exon 1 | 154,097,665 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.62+1G>A | Intron 1 | 154,097,603 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.62+2T>G | Intron 1 | 154,097,602 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.408G>T | Exon 2 | 154,032,212 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.414-3C>G | Intron 2 | 154,031,453 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| D163G | c.488A>G | Exon 3 | 154,031,376 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| D168G | c.503A>G | Exon 3 | 154,031,361 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| F169I | c.505T>A | Exon 3 | 154,031,359 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| F169L | c.507C>G | Exon 3 | 154,031,357 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| G126A | c.377G>C | Exon 2 | 154,032,243 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| G281Afs*20 | c.842del | Exon 3 | 154,031,021 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| I305_S362del | c.907_1080del | Exon 3 | 154,030,783 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| K147E | c.439A>G | Exon 3 | 154,031,425 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| K316E | c.946A>G | Exon 3 | 154,030,918 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| K316N | c.948G>C | Exon 3 | 154,030,916 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| K316R | c.947A>G | Exon 3 | 154,030,917 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| L112V | c.334C>G | Exon 2 | 154,032,286 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| L136F | c.408G>C | Exon 2 | 154,032,212 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| P113R | c.338C>G | Exon 2 | 154,032,282 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| P113S | c.337C>T | Exon 2 | 154,032,283 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| P139L | c.416C>T | Exon 3 | 154,031,448 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| P164A | c.490C>G | Exon 3 | 154,031,374 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| P164R | c.491C>G | Exon 3 | 154,031,373 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| P229L | c.686C>T | Exon 3 | 154,031,178 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| P314L | c.941C>T | Exon 3 | 154,030,923 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| P334L | c.1001C>T | Exon 3 | 154,030,863 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| P334S | c.1000C>T | Exon 3 | 154,030,864 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| P401X | c.1200_1243del | Exon 3 | 154,030,620 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R127H | c.380G>A | Exon 2 | 154,032,240 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R145C | c.433C>T | Exon 3 | 154,031,431 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R145H | c.434G>A | Exon 3 | 154,031,430 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R145L | c.434G>T | Exon 3 | 154,031,430 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R179W | c.535C>T | Exon 3 | 154,031,329 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R267P | c.800G>C | Exon 3 | 154,031,064 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R306X | c.916C>T | Exon 3 | 154,030,948 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R318C | c.952C>T | Exon 3 | 154,030,912 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R321W | c.961C>T | Exon 3 | 154,030,903 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| S146F | c.437C>T | Exon 3 | 154,031,427 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| T170A | c.508A>G | Exon 3 | 154,031,356 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| V134M | c.400G>A | Exon 2 | 154,032,220 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| V392Tfs*4 | c.1174_1199del | Exon 3 | 154,030,664 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| V497Afs*26 | c.1490_1493del | Exon 3 | 154,030,370 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| X499Wext*27 | c.1497A>G | Exon 3 | 154,030,367 | Pathogenic | 3 stars out of 4 reviewed by expert panel |