Variants
CASQ2 variants
The 15 CASQ2 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. | Exon or intron | Position (GRCh38) | ClinVar classification | Review status |
|---|---|---|---|---|---|
| c.320-2A>G | Intron 2 | 115,740,830 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.381C>T | Exon 3 | 115,740,767 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.737+1G>A | Intron 6 | 115,726,991 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.939+1G>T | Intron 9 | 115,705,191 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.939+5G>C | Intron 9 | 115,705,187 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.940-1G>T | Intron 9 | 115,702,996 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| D340X | c.1017dup | Exon 11 | 115,701,423 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| F182Lfs*28 | c.546del | Exon 5 | 115,732,960 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| P308L | c.923C>T | Exon 9 | 115,705,208 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q71Hfs*2 | c.213del | Exon 1 | 115,768,328 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R33Q | c.98G>A | Exon 1 | 115,768,444 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R33X | c.97C>T | Exon 1 | 115,768,445 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| W261X | c.783G>A | Exon 7 | 115,725,508 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Y55C | c.164A>G | Exon 1 | 115,768,378 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Y192X | c.576C>A | Exon 5 | 115,732,931 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |