Variants
KCNQ1 variants
The 120 KCNQ1 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.477+1G>A | Intron 2 | 2,528,019 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.477+5G>A | Intron 2 | 2,528,023 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1032G>A | Exon 7 | 2,583,545 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| G589D | c.1766G>A | Exon 15 | 2,778,009 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| L273F | c.817C>T | Exon 6 | 2,572,882 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| R366W | c.1096C>T | Exon 8 | 2,585,275 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| R518X | c.1552C>T | Exon 12 | 2,768,881 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| S225L | c.674C>T | Exon 4 | 2,571,394 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| V254M | c.760G>A | Exon 5 | 2,572,089 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A178T | c.532G>A | Exon 3 | 2,570,682 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A302E | c.905C>A | Exon 6 | 2,572,970 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A302V | c.905C>T | Exon 6 | 2,572,970 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A341V | c.1022C>T | Exon 7 | 2,583,535 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A344V | c.1031C>T | Exon 7 | 2,583,544 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A370E | c.1109C>A | Exon 8 | 2,585,288 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A590T | c.1768G>A | Exon 15 | 2,778,011 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| c.387-5T>A | Intron 1 | 2,527,923 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.502G>C | Exon 3 | 2,570,652 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.683+5G>A | Intron 4 | 2,571,408 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.921+1G>T | Intron 6 | 2,572,987 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1032+5G>A | Intron 7 | 2,583,550 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1252-1G>A | Intron 9 | 2,588,712 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1394-1G>T | Intron 10 | 2,661,960 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1515-2_1515-1del | Intron 11 | 2,768,841 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1685+1G>A | Intron 13 | 2,776,055 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1686-1del | Intron 13 | 2,776,984 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1686-2A>G | Intron 13 | 2,776,984 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1702G>C | Exon 14 | 2,777,002 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1733-1G>A | Intron 14 | 2,777,975 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| C122Lfs*163 | c.364dup | Exon 1 | 2,445,461 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| D202N | c.604G>A | Exon 3 | 2,570,754 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| D242N | c.724G>A | Exon 5 | 2,572,053 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| D242Y | c.724G>T | Exon 5 | 2,572,053 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E261D | c.783G>C | Exon 6 | 2,572,848 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E449Rfs*14 | c.1343dup | Exon 10 | 2,588,798 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| F275del | c.824_826del | Exon 6 | 2,572,885 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| F339S | c.1016T>C | Exon 7 | 2,583,529 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| F340del | c.1017_1019del | Exon 7 | 2,583,526 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| F423Vfs*40 | c.1265dup | Exon 10 | 2,588,718 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G168R | c.502G>A | Exon 3 | 2,570,652 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G179S | c.535G>A | Exon 3 | 2,570,685 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G179Sfs*62 | c.524_534dup | Exon 3 | 2,570,664 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G189E | c.566G>A | Exon 3 | 2,570,716 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G269S | c.805G>A | Exon 6 | 2,572,870 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G272D | c.815G>A | Exon 6 | 2,572,880 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G306R | c.916G>A | Exon 6 | 2,572,981 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G314S | c.940G>A | Exon 7 | 2,583,453 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G325R | c.973G>A | Exon 7 | 2,583,486 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G568R | c.1702G>A | Exon 14 | 2,777,002 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| I375Rfs*43 | c.1124_1127del | Exon 8 | 2,585,299 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| I588F | c.1762A>T | Exon 15 | 2,778,005 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| K196Sfs*41 | c.585del | Exon 3 | 2,570,733 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| K362R | c.1085A>G | Exon 8 | 2,585,264 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| K414Sfs*5 | c.1239del | Exon 9 | 2,587,679 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| K422Sfs*10 | c.1265del | Exon 10 | 2,588,718 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| L163Rfs*74 | c.488del | Exon 3 | 2,570,637 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| L175Rfs*106 | c.524_534del | Exon 3 | 2,570,664 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| L266Cfs*23 | c.796del | Exon 6 | 2,572,858 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| L266P | c.797T>C | Exon 6 | 2,572,862 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| L342F | c.1024C>T | Exon 7 | 2,583,537 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| L496Afs*19 | c.1486_1487del | Exon 11 | 2,662,050 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| M520R | c.1559T>G | Exon 12 | 2,768,888 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| P67Rfs*214 | c.200_210del | Exon 1 | 2,445,294 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| P631Hfs*14 | c.1892_1911del | Exon 16 | 2,847,862 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q356X | c.1066C>T | Exon 8 | 2,585,245 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q357X | c.1069C>T | Exon 8 | 2,585,248 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q359X | c.1075C>T | Exon 8 | 2,585,254 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q376X | c.1126C>T | Exon 8 | 2,585,305 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q505X | c.1513C>T | Exon 11 | 2,662,080 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q530X | c.1588C>T | Exon 12 | 2,768,917 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R174C | c.520C>T | Exon 3 | 2,570,670 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R174H | c.521G>A | Exon 3 | 2,570,671 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R190L | c.569G>T | Exon 3 | 2,570,719 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R190Q | c.569G>A | Exon 3 | 2,570,719 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R190W | c.568C>T | Exon 3 | 2,570,718 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R192Cfs*91 | c.573_577del | Exon 3 | 2,570,719 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R231C | c.691C>T | Exon 5 | 2,572,020 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R231H | c.692G>A | Exon 5 | 2,572,021 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R243C | c.727C>T | Exon 5 | 2,572,056 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R243H | c.728G>A | Exon 5 | 2,572,057 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R259C | c.775C>T | Exon 5 | 2,572,104 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R259H | c.776G>A | Exon 5 | 2,572,105 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R259P | c.776G>C | Exon 5 | 2,572,105 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R366Q | c.1097G>A | Exon 8 | 2,585,276 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R401Pfs*62 | c.1201dup | Exon 9 | 2,587,636 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R539W | c.1615C>T | Exon 13 | 2,775,984 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R555C | c.1663C>T | Exon 13 | 2,776,032 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R555H | c.1664G>A | Exon 13 | 2,776,033 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R555S | c.1663C>A | Exon 13 | 2,776,032 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R583C | c.1747C>T | Exon 15 | 2,777,990 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R591C | c.1771C>T | Exon 15 | 2,778,014 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R591H | c.1772G>A | Exon 15 | 2,778,015 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R591L | c.1772G>T | Exon 15 | 2,778,015 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R594Q | c.1781G>A | Exon 15 | 2,778,024 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R594X | c.1780C>T | Exon 15 | 2,778,023 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R632Efs*34 | c.1893del | Exon 16 | 2,847,858 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R632Qfs*20 | c.1893dup | Exon 16 | 2,847,858 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| S277del | c.828_830del | Exon 6 | 2,572,889 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| S277L | c.830C>T | Exon 6 | 2,572,895 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| S546L | c.1637C>T | Exon 13 | 2,776,006 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |