Variants
DCLRE1C variants
The 22 DCLRE1C 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 |
|---|---|---|---|---|---|
| A28P | c.82G>C | Exon 1 | 14,953,929 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| c.109+1G>T | Intron 1 | 14,953,901 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.161+2T>G | Intron 2 | 14,949,034 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| C116R | c.346T>C | Exon 5 | 14,936,554 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| D136N | c.406G>A | Exon 6 | 14,935,521 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| G118X | c.352G>T | Exon 5 | 14,936,548 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| G135E | c.404G>A | Exon 6 | 14,935,523 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| H35D | c.103C>G | Exon 1 | 14,953,908 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| I16T | c.47T>C | Exon 1 | 14,953,964 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| L47X | c.140T>A | Exon 2 | 14,949,057 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| L69X | c.206T>A | Exon 3 | 14,945,145 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| R81X | c.241C>T | Exon 3 | 14,945,110 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R191X | c.571C>T | Exon 8 | 14,934,487 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R383X | c.1147C>T | Exon 13 | 14,919,747 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| S32C | c.95C>G | Exon 1 | 14,953,916 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| S32F | c.95C>T | Exon 1 | 14,953,916 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| S119X | c.356C>G | Exon 5 | 14,936,544 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| T65I | c.194C>T | Exon 3 | 14,945,157 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| T557Nfs*21 | c.1669dup | Exon 14 | 14,908,817 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| Y60X | c.180C>A | Exon 3 | 14,945,171 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| Y174X | c.522C>G | Exon 7 | 14,934,718 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| Y199X | c.597C>A | Exon 8 | 14,934,461 | Pathogenic | 3 stars out of 4 reviewed by expert panel |