Variants
HNF4A variants
The 104 HNF4A 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 |
|---|---|---|---|---|---|
| A52Cfs*5 | c.152dup | Exon 2 | 44,406,158 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A107D | c.320C>A | Exon 4 | 44,413,694 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A185T | c.553G>A | Exon 5 | 44,414,633 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| c.-12G>A | Exon 1 | 44,355,793 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1A>G | Exon 1 | 44,355,805 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1A>T | Exon 1 | 44,355,805 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1del | Exon 1 | 44,355,804 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2T>A | Exon 1 | 44,355,806 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2T>C | Exon 1 | 44,355,806 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.3G>A | Exon 1 | 44,355,807 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.224+2T>C | Intron 2 | 44,406,234 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.225-21A>G | Intron 2 | 44,407,360 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.427-1G>A | Intron 4 | 44,414,506 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.427-2A>G | Intron 4 | 44,414,505 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.572_582+7del | Exon 5 | 44,414,651 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.582+1G>A | Intron 5 | 44,414,663 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.582+1G>C | Intron 5 | 44,414,663 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.583-1G>A | Intron 5 | 44,418,424 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.583-2del | Intron 5 | 44,418,422 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| C74Y | c.221G>A | Exon 2 | 44,406,229 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| C80X | c.240C>A | Exon 3 | 44,407,396 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| C90W | c.270C>G | Exon 3 | 44,407,426 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| C93S | c.278G>C | Exon 3 | 44,407,434 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| C93Y | c.278G>A | Exon 3 | 44,407,434 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| C166X | c.498T>A | Exon 5 | 44,414,578 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| CA2573102981 | 44,355,624 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | ||
| clinvar.allele:3510700 | 44,355,659 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | ||
| clinvar.allele:4190068 | 44,355,636 | Pathogenic | 3 stars out of 4 reviewed by expert panel | ||
| clinvar.allele:4190070 | 44,355,613 | Pathogenic | 3 stars out of 4 reviewed by expert panel | ||
| clinvar.allele:4638810 | 44,355,627 | Pathogenic | 3 stars out of 4 reviewed by expert panel | ||
| D164Gfs*4 | c.490dup | Exon 5 | 44,414,569 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| D193Y | c.577G>T | Exon 5 | 44,414,657 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| D260Y | c.778G>T | Exon 7 | 44,419,828 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| D345H | c.1033G>C | Exon 8 | 44,424,224 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| D345Y | c.1033G>T | Exon 8 | 44,424,224 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| E111X | c.331G>T | Exon 4 | 44,413,705 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E249X | c.745G>T | Exon 7 | 44,419,795 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E263Q | c.787G>C | Exon 7 | 44,419,837 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| F62Sfs*42 | c.185del | Exon 2 | 44,406,191 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| G42R | c.124G>A | Exon 2 | 44,406,132 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| G42V | c.125G>T | Exon 2 | 44,406,133 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| G102S | c.304G>A | Exon 3 | 44,407,460 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| G313V | c.938G>T | Exon 8 | 44,424,129 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| G354Efs*18 | c.1061del | Exon 8 | 44,424,249 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| G355R | c.1063G>C | Exon 8 | 44,424,254 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| H49Y | c.145C>T | Exon 2 | 44,406,153 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| I301F | c.901A>T | Exon 8 | 44,424,092 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| K86Efs*25 | c.256_257del | Exon 3 | 44,407,411 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| L221Qfs*6 | c.660_662delinsTCAA | Exon 6 | 44,418,502 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| L247P | c.740T>C | Exon 7 | 44,419,790 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| L319dup | c.956_958dup | Exon 8 | 44,424,132 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| L319P | c.956T>C | Exon 8 | 44,424,147 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| M103I | c.309G>A | Exon 3 | 44,407,465 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| M351R | c.1052T>G | Exon 8 | 44,424,243 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| P437L | c.1310C>T | Exon 10 | 44,429,616 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| Q135X | c.403C>T | Exon 4 | 44,413,777 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| Q172X | c.514C>T | Exon 5 | 44,414,594 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| Q255X | c.763C>T | Exon 7 | 44,419,813 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| Q323Rfs*7 | c.968del | Exon 8 | 44,424,158 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| Q332X | c.994C>T | Exon 8 | 44,424,185 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| Q334X | c.1000C>T | Exon 8 | 44,424,191 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| Q349X | c.1045C>T | Exon 8 | 44,424,236 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R63Q | c.188G>A | Exon 2 | 44,406,196 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R63W | c.187C>T | Exon 2 | 44,406,195 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R67Q | c.200G>A | Exon 2 | 44,406,208 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R67W | c.199C>T | Exon 2 | 44,406,207 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R75K | c.224G>A | Exon 2 | 44,406,232 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| R91H | c.272G>A | Exon 3 | 44,407,428 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| R94Tfs*10 | c.281_282delinsC | Exon 3 | 44,407,437 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| R112Q | c.335G>A | Exon 4 | 44,413,709 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R112W | c.334C>T | Exon 4 | 44,413,708 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R114W | c.340C>T | Exon 4 | 44,413,714 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| R118X | c.352C>T | Exon 4 | 44,413,726 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R141Dfs*29 | c.421del | Exon 4 | 44,413,792 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R141X | c.421C>T | Exon 4 | 44,413,795 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R231Q | c.692G>A | Exon 7 | 44,419,742 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R231W | c.691C>T | Exon 7 | 44,419,741 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| R245C | c.733C>T | Exon 7 | 44,419,783 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R245G | c.733C>G | Exon 7 | 44,419,783 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| R245H | c.734G>A | Exon 7 | 44,419,784 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R245P | c.734G>C | Exon 7 | 44,419,784 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| R290C | c.868C>T | Exon 8 | 44,424,059 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R290H | c.869G>A | Exon 8 | 44,424,060 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R290L | c.869G>T | Exon 8 | 44,424,060 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| R290P | c.869G>C | Exon 8 | 44,424,060 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| R309C | c.925C>T | Exon 8 | 44,424,116 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R309H | c.926G>A | Exon 8 | 44,424,117 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| R309L | c.926G>T | Exon 8 | 44,424,117 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| R311C | c.931C>T | Exon 8 | 44,424,122 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R311H | c.932G>A | Exon 8 | 44,424,123 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R311L | c.932G>T | Exon 8 | 44,424,123 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| rs2146126966 | 44,355,624 | Pathogenic | 3 stars out of 4 reviewed by expert panel | ||
| S21X | c.62C>A | Exon 2 | 44,406,070 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| S419X | c.1256C>G | Exon 10 | 44,429,562 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| T326I | c.977C>T | Exon 8 | 44,424,168 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| V34Sfs*70 | c.100del | Exon 2 | 44,406,107 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| V108I | c.322G>A | Exon 4 | 44,413,696 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| V242Cfs*39 | c.724del | Exon 7 | 44,419,771 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| V293Cfs*15 | c.876_877insT | Exon 8 | 44,424,067 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| W179C | c.537G>C | Exon 5 | 44,414,617 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |