Variants
GCK variants
The 385 GCK 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 |
|---|---|---|---|---|---|
| A53V | c.158C>T | Exon 2 | 44,153,351 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A188T | c.562G>A | Exon 5 | 44,149,986 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A201S | c.601G>T | Exon 6 | 44,149,838 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A208P | c.622G>C | Exon 6 | 44,149,817 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| A208T | c.622G>A | Exon 6 | 44,149,817 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A208V | c.623C>T | Exon 6 | 44,149,816 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A259S | c.775G>T | Exon 7 | 44,147,738 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| A259T | c.775G>A | Exon 7 | 44,147,738 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A259V | c.776C>T | Exon 7 | 44,147,737 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A378Cfs*80 | c.1132_1133del | Exon 9 | 44,145,616 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| A378D | c.1133C>A | Exon 9 | 44,145,617 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A378G | c.1133C>G | Exon 9 | 44,145,617 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| A378Gfs*75 | c.1133_1149del | Exon 9 | 44,145,600 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| A378P | c.1132G>C | Exon 9 | 44,145,618 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| A378T | c.1132G>A | Exon 9 | 44,145,618 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A378V | c.1133C>T | Exon 9 | 44,145,617 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A379E | c.1136C>A | Exon 9 | 44,145,614 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| A379G | c.1136C>G | Exon 9 | 44,145,614 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| A379V | c.1136C>T | Exon 9 | 44,145,614 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| A384E | c.1151C>A | Exon 9 | 44,145,599 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A384G | c.1151C>G | Exon 9 | 44,145,599 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| A384T | c.1150G>A | Exon 9 | 44,145,600 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| A384V | c.1151C>T | Exon 9 | 44,145,599 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| A387E | c.1160C>A | Exon 9 | 44,145,590 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| A387T | c.1159G>A | Exon 9 | 44,145,591 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A387V | c.1160C>T | Exon 9 | 44,145,590 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A449Gfs*4 | c.1346_1362del | Exon 10 | 44,145,171 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A449Gfs*9 | c.1346_1347del | Exon 10 | 44,145,186 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| A449Rfs*165 | c.1344del | Exon 10 | 44,145,189 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A449S | c.1345G>T | Exon 10 | 44,145,189 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| A449T | c.1345G>A | Exon 10 | 44,145,189 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A450Pfs*164 | c.1348del | Exon 10 | 44,145,185 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| A450S | c.1348G>T | Exon 10 | 44,145,186 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| A450T | c.1348G>A | Exon 10 | 44,145,186 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| A450V | c.1349C>T | Exon 10 | 44,145,185 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| A454E | c.1361C>A | Exon 10 | 44,145,173 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| A454Rfs*160 | c.1360del | Exon 10 | 44,145,173 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A454V | c.1361C>T | Exon 10 | 44,145,173 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| A460Gfs*147 | c.1379_*2del | Exon 10 | 44,145,133 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| A460Pfs*154 | c.1378del | Exon 10 | 44,145,155 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| c.46-1G>A | Intron 1 | 44,153,464 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.46-1G>T | Intron 1 | 44,153,464 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.46-2A>G | Intron 1 | 44,153,465 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.46-2A>T | Intron 1 | 44,153,465 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.171G>A | Exon 2 | 44,153,338 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.363+1G>A | Intron 3 | 44,152,270 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.363+2T>A | Intron 3 | 44,152,269 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.363+2T>C | Intron 3 | 44,152,269 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.480T>G | Exon 4 | 44,150,959 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.483G>A | Exon 4 | 44,150,956 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.499T>A | Exon 5 | 44,150,049 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.523G>C | Exon 5 | 44,150,025 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.532G>C | Exon 5 | 44,150,016 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.579+4del | Intron 5 | 44,149,964 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.580-9T>G | Intron 5 | 44,149,868 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.628A>G | Exon 6 | 44,149,811 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.630G>A | Exon 6 | 44,149,809 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.679+1G>A | Intron 6 | 44,149,759 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.679+1G>C | Intron 6 | 44,149,759 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.679+1G>T | Intron 6 | 44,149,759 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.679+2T>C | Intron 6 | 44,149,758 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.679+3A>T | Intron 6 | 44,149,757 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.679+5G>A | Intron 6 | 44,149,755 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.679+5G>C | Intron 6 | 44,149,755 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.680-2A>G | Intron 6 | 44,147,835 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.781G>C | Exon 7 | 44,147,732 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.863+1G>A | Intron 7 | 44,147,649 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.863+1G>C | Intron 7 | 44,147,649 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.864-1G>A | Intron 7 | 44,146,619 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.864-1G>C | Intron 7 | 44,146,619 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1019+1G>A | Intron 8 | 44,146,462 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1019+1G>T | Intron 8 | 44,146,462 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1019+2T>G | Intron 8 | 44,146,461 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1019+5G>A | Intron 8 | 44,146,458 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1020-1G>A | Intron 8 | 44,145,731 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1020-1G>C | Intron 8 | 44,145,731 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1020-10C>A | Intron 8 | 44,145,740 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1153G>C | Exon 9 | 44,145,597 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1248C>A | Exon 9 | 44,145,502 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1253+1G>A | Intron 9 | 44,145,496 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1253+1G>C | Intron 9 | 44,145,496 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1253+1G>T | Intron 9 | 44,145,496 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1254-1G>C | Intron 9 | 44,145,281 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1254-1G>T | Intron 9 | 44,145,281 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1254-2A>G | Intron 9 | 44,145,282 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1254-12_1257del | Exon 10 | 44,145,276 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1297_1300dup | Exon 10 | 44,145,233 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| C220R | c.658T>C | Exon 6 | 44,149,781 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| C220X | c.660C>A | Exon 6 | 44,149,779 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| C220Y | c.659G>A | Exon 6 | 44,149,780 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| C230R | c.688T>C | Exon 7 | 44,147,825 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| C230Y | c.689G>A | Exon 7 | 44,147,824 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| C371F | c.1112G>T | Exon 9 | 44,145,638 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| C371R | c.1111T>C | Exon 9 | 44,145,639 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| C371W | c.1113C>G | Exon 9 | 44,145,637 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| C371X | c.1113C>A | Exon 9 | 44,145,637 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| C371Y | c.1112G>A | Exon 9 | 44,145,638 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| C382Afs*20 | c.1144del | Exon 9 | 44,145,605 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| C382G | c.1144T>G | Exon 9 | 44,145,606 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| C382R | c.1144T>C | Exon 9 | 44,145,606 | Pathogenic | 3 stars out of 4 reviewed by expert panel |