Variants
TMEM127 variants
The 11 TMEM127 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.2T>C | Exon 2 | 96,265,380 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.245-1G>A | Intron 2 | 96,254,998 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.245-1G>C | Intron 2 | 96,254,998 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.410-2A>C | Intron 3 | 96,254,117 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| F83Sfs*3 | c.248del | Exon 3 | 96,254,993 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G5Efs*76 | c.12del | Exon 2 | 96,265,369 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| H133R | c.398A>G | Exon 3 | 96,254,844 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| I41Rfs*39 | c.117_120del | Exon 2 | 96,265,261 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| L155X | c.464T>A | Exon 4 | 96,254,061 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q157X | c.469C>T | Exon 4 | 96,254,056 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| V68Gfs*40 | c.202dup | Exon 2 | 96,265,179 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |