Variants
LMNA variants
The 34 LMNA 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 |
|---|---|---|---|---|---|
| A242V | c.725C>T | Exon 4 | 156,134,890 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| c.768G>A | Exon 4 | 156,134,933 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1157+2T>A | Intron 6 | 156,136,123 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1608+1G>A | Intron 9 | 156,137,233 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1698+13C>A | Intron 10 | 156,137,756 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| E161K | c.481G>A | Exon 2 | 156,130,741 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E317K | c.949G>A | Exon 6 | 156,135,913 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E358K | c.1072G>A | Exon 6 | 156,136,036 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R62G | c.184C>G | Exon 1 | 156,115,102 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R190Q | c.569G>A | Exon 3 | 156,134,458 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R216C | c.646C>T | Exon 4 | 156,134,811 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R249Q | c.746G>A | Exon 4 | 156,134,911 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R249W | c.745C>T | Exon 4 | 156,134,910 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R298C | c.892C>T | Exon 5 | 156,135,268 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R321X | c.961C>T | Exon 6 | 156,135,925 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R331Q | c.992G>A | Exon 6 | 156,135,956 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R335W | c.1003C>T | Exon 6 | 156,135,967 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R349W | c.1045C>T | Exon 6 | 156,136,009 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R377C | c.1129C>T | Exon 6 | 156,136,093 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R377H | c.1130G>A | Exon 6 | 156,136,094 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R377L | c.1130G>T | Exon 6 | 156,136,094 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R453W | c.1357C>T | Exon 7 | 156,136,413 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R471H | c.1412G>A | Exon 8 | 156,136,952 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R482Q | c.1445G>A | Exon 8 | 156,136,985 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R482W | c.1444C>T | Exon 8 | 156,136,984 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R527C | c.1579C>T | Exon 9 | 156,137,203 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R527H | c.1580G>A | Exon 9 | 156,137,204 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R541C | c.1621C>T | Exon 10 | 156,137,666 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R541H | c.1622G>A | Exon 10 | 156,137,667 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R582C | c.1744C>T | Exon 11 | 156,138,533 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R582H | c.1745G>A | Exon 11 | 156,138,534 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| S583L | c.1748C>T | Exon 11 | 156,138,537 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| T528K | c.1583C>A | Exon 9 | 156,137,207 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| T655Nfs*49 | c.1961dup | Exon 11 | 156,138,749 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |