Variants
GUCY2D variants
The 44 GUCY2D 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 |
|---|---|---|---|---|
| A76Rfs*238 | c.226_239del | 8,003,272 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A946T | c.2836G>A | 8,015,394 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| c.-129_1566del | 8,002,614 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.3G>A | 8,003,050 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.722-1G>T | 8,003,851 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1956+1G>A | 8,012,351 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2945-1del | 8,015,741 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.3224+1G>C | 8,016,291 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.3224+3G>T | 8,016,293 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| E103K | c.307G>A | 8,003,354 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| F415Lfs*73 | c.1245del | 8,006,576 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| F565S | c.1694T>C | 8,009,531 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| G982Vfs*39 | c.2944del | 8,015,500 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| H945Y | c.2833C>T | 8,015,391 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| H1019P | c.3056A>C | 8,015,939 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| I243Sfs*3 | c.726del | 8,003,855 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| I1027_L1028dup | c.3078_3083dup | 8,015,960 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| K866Rfs*14 | c.2595del | 8,014,876 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| P130Lfs*36 | c.389del | 8,003,433 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| P711L | c.2132C>T | 8,013,121 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| Q545X | c.1633C>T | 8,007,997 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| Q878Rfs*17 | c.2633_2636del | 8,014,914 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R28Pfs*291 | c.82dup | 8,003,125 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| R31Pfs*288 | c.91dup | 8,003,133 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R313C | c.937C>T | 8,004,067 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| R521X | c.1561C>T | 8,007,523 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R588W | c.1762C>T | 8,012,156 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R666W | c.1996C>T | 8,012,489 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| R768Q | c.2303G>A | 8,013,919 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R768W | c.2302C>T | 8,013,918 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R795Q | c.2384G>A | 8,014,000 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| R976L | c.2927G>T | 8,015,485 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| R995W | c.2983C>T | 8,015,781 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| R1091X | c.3271C>T | 8,016,489 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| S248W | c.743C>G | 8,003,873 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| S448X | c.1343C>A | 8,006,679 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| S1007X | c.3020C>A | 8,015,818 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| T280R | c.839C>G | 8,003,969 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| T312M | c.935C>T | 8,004,065 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| T839Rfs*27 | c.2516del | 8,014,703 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| V242G | c.725T>G | 8,003,855 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| Y351C | c.1052A>G | 8,006,388 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| Y922C | c.2765A>G | 8,015,047 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| Y922X | c.2766C>G | 8,015,048 | Pathogenic | 3 stars out of 4 reviewed by expert panel |