Variants
FOXN1 variants
The 29 FOXN1 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 |
|---|---|---|---|---|---|
| C82X | c.246C>A | Exon 3 | 28,524,625 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| D313Tfs*169 | c.933_936dup | Exon 7 | 28,534,334 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E303Sfs*247 | c.907del | Exon 6 | 28,530,823 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| E390Kfs*160 | c.1168del | Exon 8 | 28,534,738 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| G337Efs*213 | c.1010del | Exon 7 | 28,534,411 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| H321R | c.962A>G | Exon 7 | 28,534,365 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| H457Pfs*93 | c.1370del | Exon 8 | 28,534,940 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| I433Ffs*117 | c.1296del | Exon 8 | 28,534,863 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| L325P | c.974T>C | Exon 7 | 28,534,377 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| L426Tfs*123 | c.1275_1278del | Exon 8 | 28,534,840 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| L439Cfs*111 | c.1315del | Exon 8 | 28,534,881 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| L456X | c.1367T>A | Exon 8 | 28,534,938 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| L529Wfs*21 | c.1585del | Exon 8 | 28,535,154 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| P350L | c.1049C>T | Exon 7 | 28,534,452 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| P401Afs*144 | c.1201_1216del | Exon 8 | 28,534,758 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| P465Rfs*82 | c.1392_1401del | Exon 8 | 28,534,959 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| P473Hfs*77 | c.1418del | Exon 8 | 28,534,986 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| Q474X | c.1420C>T | Exon 8 | 28,534,991 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| Q489Rfs*61 | c.1465del | Exon 8 | 28,535,030 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R114X | c.340C>T | Exon 3 | 28,524,719 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R255X | c.763C>T | Exon 5 | 28,529,157 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R320W | c.958C>T | Exon 7 | 28,534,361 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| S188Afs*114 | c.562del | Exon 3 | 28,524,940 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| S459X | c.1376C>A | Exon 8 | 28,534,947 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| T527X | c.1579_1580del | Exon 8 | 28,535,148 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| V294I | c.880G>A | Exon 6 | 28,530,798 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| V294L | c.880G>C | Exon 6 | 28,530,798 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| Y241X | c.723C>G | Exon 5 | 28,529,117 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| Y455Cfs*94 | c.1364_1367del | Exon 8 | 28,534,933 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |