Variants
CACNA1S variants
The 25 CACNA1S variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.
| Variant | HGVS c. | Position (GRCh38) | ClinVar classification | Review status |
|---|---|---|---|---|
| c.258+2T>C | 201,110,162 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1233-1G>A | 201,083,323 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.3414+3A>T | 201,060,655 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.4113+1G>A | 201,050,983 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.4113+1G>C | 201,050,983 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.4543+2T>C | 201,047,523 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.4798-2A>G | 201,043,533 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| D1650Ifs*73 | c.4947del | 201,043,381 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E1348Rfs*76 | c.4038del | 201,051,058 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| L938Yfs*26 | c.2812del | 201,065,878 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| L1656Rfs*67 | c.4967del | 201,043,361 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| N468Vfs*6 | c.1401_1414del | 201,078,083 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R168X | c.502C>T | 201,092,011 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R412X | c.1234C>T | 201,083,321 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R528C | c.1582C>T | 201,077,916 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R528H | c.1583G>A | 201,077,915 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R528L | c.1583G>T | 201,077,915 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R757X | c.2269C>T | 201,070,363 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R897T | c.2690G>C | 201,066,284 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R903X | c.2707C>T | 201,066,267 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R1239G | c.3715C>G | 201,053,539 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R1239H | c.3716G>A | 201,053,538 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R1254X | c.3760C>T | 201,053,494 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| W300X | c.900G>A | 201,089,258 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| W616X | c.1847G>A | 201,075,596 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |