Variants
FLNC variants
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 |
|---|---|---|---|---|---|
| A193T | c.577G>A | Exon 2 | 128,835,550 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A1186V | c.3557C>T | Exon 21 | 128,845,022 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| c.970-4A>G | Intron 5 | 128,837,983 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2550+2T>C | Intron 16 | 128,842,956 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.3193-2A>G | Intron 20 | 128,844,656 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.3791-1G>C | Intron 21 | 128,845,989 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.5199+1G>T | Intron 30 | 128,849,579 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.6727+1G>A | Intron 40 | 128,854,217 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| 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 |
| G1546S | c.4636G>A | Exon 27 | 128,848,616 | 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 |
| G2011R | c.6031G>A | Exon 37 | 128,852,854 | Pathogenic/likely 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 |
| M222V | c.664A>G | Exon 3 | 128,837,222 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q1024X | c.3070C>T | Exon 20 | 128,844,144 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R991X | c.2971C>T | Exon 20 | 128,844,045 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R1341X | c.4021C>T | Exon 23 | 128,846,357 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R1354X | c.4060C>T | Exon 23 | 128,846,396 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R1370X | c.4108C>T | Exon 23 | 128,846,444 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R1657X | c.4969C>T | Exon 30 | 128,849,348 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| S1624L | c.4871C>T | Exon 28 | 128,848,926 | 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 |
| V930_T933del | c.2789_2800del | Exon 18 | 128,843,553 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| V2297M | c.6889G>A | Exon 41 | 128,854,574 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| W34X | c.102G>A | Exon 1 | 128,830,739 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| W2710X | c.8130G>A | Exon 48 | 128,858,475 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Y1840X | c.5520T>A | Exon 33 | 128,850,924 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Y1918X | c.5754T>A | Exon 35 | 128,851,540 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |