Variants
FOXG1 variants
The 14 FOXG1 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 |
|---|---|---|---|---|---|
| E154Gfs*301 | c.460dup | Exon 1 | 28,767,732 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| G224S | c.670G>A | Exon 1 | 28,767,949 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| G250S | c.748G>A | Exon 1 | 28,768,027 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| G267S | c.799G>A | Exon 1 | 28,768,078 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| I207T | c.620T>C | Exon 1 | 28,767,899 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| I229L | c.685A>C | Exon 1 | 28,767,964 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| L189V | c.565C>G | Exon 1 | 28,767,844 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| M191I | c.573G>A | Exon 1 | 28,767,852 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| N187K | c.561C>A | Exon 1 | 28,767,840 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| N236D | c.706A>G | Exon 1 | 28,767,985 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| P63Afs*61 | c.177_186dup | Exon 1 | 28,767,449 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| Q86Rfs*106 | c.256del | Exon 1 | 28,767,528 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R230L | c.689G>T | Exon 1 | 28,767,968 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| S234F | c.701C>T | Exon 1 | 28,767,980 | Pathogenic | 3 stars out of 4 reviewed by expert panel |