Variants
SLC6A8 variants
The 82 SLC6A8 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 |
|---|---|---|---|---|---|
| A153Gfs*36 | c.457dup | Exon 3 | 153,691,364 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| A191Qfs*10 | c.570_571del | Exon 3 | 153,691,476 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A404P | c.1210G>C | Exon 8 | 153,693,973 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| A478Gfs*24 | c.1432dup | Exon 10 | 153,694,381 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| c.262_262+1delinsTT | Exon 1 | 153,688,836 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.262+1G>T | Intron 1 | 153,688,837 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.263-1G>C | Intron 1 | 153,690,374 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.263-2A>G | Intron 1 | 153,690,373 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.778-2A>G | Intron 4 | 153,693,039 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.912G>A | Exon 5 | 153,693,175 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.913-1G>A | Intron 5 | 153,693,262 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1016+2T>C | Intron 6 | 153,693,368 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1142-2_1142-1insGGGCC | Intron 7 | 153,693,903 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1142-2A>G | Intron 7 | 153,693,903 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1392+17_1393-37del | Intron 9 | 153,694,283 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1393-1del | Intron 9 | 153,694,342 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1495+2T>G | Intron 10 | 153,694,448 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1495+5G>C | Intron 10 | 153,694,451 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1767+1_1767+2insA | Intron 12 | 153,694,890 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| C181R | c.541T>C | Exon 3 | 153,691,450 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| C491W | c.1473C>G | Exon 10 | 153,694,424 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| D287Mfs*21 | c.859del | Exon 5 | 153,693,120 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| D458Sfs*4 | c.1372_1375del | Exon 9 | 153,694,243 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| D474G | c.1421A>G | Exon 10 | 153,694,372 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| E212Vfs*84 | c.635_636del | Exon 3 | 153,691,542 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E212X | c.634G>T | Exon 3 | 153,691,543 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E226X | c.676G>T | Exon 4 | 153,692,006 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E379Vfs*85 | c.1136_1137del | Exon 7 | 153,693,578 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| F107del | c.321_323del | Exon 2 | 153,690,427 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| F315del | c.942_944del | Exon 6 | 153,693,289 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| F315Lfs*148 | c.945_949del | Exon 6 | 153,693,287 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| F354del | c.1059_1061del | Exon 7 | 153,693,500 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| F360del | c.1079_1081del | Exon 7 | 153,693,520 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| F408del | c.1222_1224del | Exon 8 | 153,693,978 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| F473Tfs*37 | c.1417_1420del | Exon 10 | 153,694,365 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| F564Hfs*21 | c.1690_1703del | Exon 12 | 153,694,810 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| G132V | c.395G>T | Exon 3 | 153,691,304 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| G253R | c.757G>C | Exon 4 | 153,692,087 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| G381R | c.1141G>C | Exon 7 | 153,693,586 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| G424D | c.1271G>A | Exon 9 | 153,694,146 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| G466R | c.1396G>A | Exon 10 | 153,694,347 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| G533Vfs*70 | c.1596_1597insGTAAGGGCTGGGGGAGGTGGGGCAGGGCGGGGGGCGAGGCAGGGCGGGGTAGGGGCCCCATTAACCGCAGCATTCTGGTCCGTAGGGCATCTTCATCTTCAACGTTGTGTACTACGAGCCGCTGGTCTGCATG | Exon 11 | 153,694,618 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| G561R | c.1681G>C | Exon 12 | 153,694,803 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| I507Lfs*5 | c.1519_1543del | Exon 11 | 153,694,551 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| K18Tfs*53 | c.53_137delinsCCGTGT | Exon 1 | 153,688,627 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| L286Wfs*22 | c.856del | Exon 5 | 153,693,116 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| L293Qfs*3 | c.878_879del | Exon 5 | 153,693,138 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| L412Qfs*48 | c.1235_1248del | Exon 8 | 153,693,996 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| M519Ifs*41 | c.1556_1557insTTTC | Exon 11 | 153,694,593 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| N74Tfs*23 | c.219del | Exon 1 | 153,688,792 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| N336del | c.1006_1008del | Exon 6 | 153,693,348 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| P31Rfs*66 | c.92del | Exon 1 | 153,688,662 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| P209Rfs*87 | c.626_627del | Exon 3 | 153,691,534 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| P382L | c.1145C>T | Exon 8 | 153,693,908 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| P390L | c.1169C>T | Exon 8 | 153,693,932 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| P397L | c.1190C>T | Exon 8 | 153,693,953 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| P434Lfs*27 | c.1299_1309del | Exon 9 | 153,694,167 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| P544L | c.1631C>T | Exon 12 | 153,694,753 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| P554L | c.1661C>T | Exon 12 | 153,694,783 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| Q114H | c.342G>C | Exon 2 | 153,690,454 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| Q442Kfs*21 | c.1324del | Exon 9 | 153,694,197 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| Q486X | c.1456C>T | Exon 10 | 153,694,407 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R207W | c.619C>T | Exon 3 | 153,691,528 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| R391W | c.1171C>T | Exon 8 | 153,693,934 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| R440Pfs*25 | c.1318dup | Exon 9 | 153,694,191 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R514X | c.1540C>T | Exon 11 | 153,694,577 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| S64del | c.191_193del | Exon 1 | 153,688,762 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| S316Ffs*149 | c.946dup | Exon 6 | 153,693,292 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| S567P | c.1699T>C | Exon 12 | 153,694,821 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| T166Sfs*54 | c.497del | Exon 3 | 153,691,405 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| T325Sfs*139 | c.974_975del | Exon 6 | 153,693,321 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| V250Lfs*46 | c.748_749del | Exon 4 | 153,692,074 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| W154X | c.462G>A | Exon 3 | 153,691,371 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| W169X | c.507G>A | Exon 3 | 153,691,416 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| W306X | c.917G>A | Exon 6 | 153,693,267 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| W402X | c.1206G>A | Exon 8 | 153,693,969 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| W518X | c.1554G>A | Exon 11 | 153,694,591 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| W556X | c.1667G>A | Exon 12 | 153,694,789 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| W562X | c.1685G>A | Exon 12 | 153,694,807 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| Y262X | c.786C>G | Exon 5 | 153,693,049 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| Y317X | c.950dup | Exon 6 | 153,693,299 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| Y476X | c.1428C>G | Exon 10 | 153,694,379 | Pathogenic | 3 stars out of 4 reviewed by expert panel |