Variants
FLNC variants
Predicted effect: Frameshift. 7 of the 31 FLNC 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 |
|---|---|---|---|---|---|
| D1061Ifs*17 | c.3180del | Exon 20 | 128,844,253 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| F298Wfs*48 | c.893_908del | Exon 5 | 128,837,677 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| F2165Sfs*10 | c.6494del | Exon 40 | 128,853,981 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G1649Afs*17 | c.4946del | Exon 29 | 128,849,197 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G2642Afs*26 | c.7925del | Exon 47 | 128,858,148 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| I2527Mfs*2 | c.7581del | Exon 46 | 128,857,136 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| T2412Sfs*29 | c.7235_7236del | Exon 43 | 128,855,297 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |