Variants
PAH variants
The 619 PAH 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 |
|---|---|---|---|---|---|
| A47V | c.140C>T | Exon 2 | 102,912,819 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| A90Cfs*12 | c.266dup | Exon 3 | 102,894,820 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A104D | c.311C>A | Exon 3 | 102,894,776 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A104V | c.311C>T | Exon 3 | 102,894,776 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| A132V | c.395C>T | Exon 4 | 102,877,508 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| A156P | c.466G>C | Exon 5 | 102,866,639 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A165D | c.494C>A | Exon 5 | 102,866,611 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| A165T | c.493G>A | Exon 5 | 102,866,612 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| A202T | c.604G>A | Exon 6 | 102,855,238 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| A202V | c.605C>T | Exon 6 | 102,855,237 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| A246V | c.737C>T | Exon 7 | 102,852,920 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| A300S | c.898G>T | Exon 8 | 102,851,701 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A300V | c.899C>T | Exon 8 | 102,851,700 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| A309T | c.925G>A | Exon 9 | 102,846,939 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| A309V | c.926C>T | Exon 9 | 102,846,938 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A313V | c.938C>T | Exon 9 | 102,846,926 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A322G | c.965C>G | Exon 9 | 102,846,899 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| A322T | c.964G>A | Exon 9 | 102,846,900 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A342Hfs*58 | c.1024del | Exon 10 | 102,844,376 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A345S | c.1033G>T | Exon 10 | 102,844,368 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A345T | c.1033G>A | Exon 10 | 102,844,368 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| A373D | c.1118C>A | Exon 11 | 102,843,727 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| A373Hfs*20 | c.1117_1118del | Exon 11 | 102,843,726 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A373T | c.1117G>A | Exon 11 | 102,843,728 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| A389Efs*11 | c.1166del | Exon 11 | 102,843,678 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A395D | c.1184C>A | Exon 11 | 102,843,661 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| A395P | c.1183G>C | Exon 11 | 102,843,662 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A403V | c.1208C>T | Exon 12 | 102,840,507 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A434D | c.1301C>A | Exon 12 | 102,840,414 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A434V | c.1301C>T | Exon 12 | 102,840,414 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| c.1A>G | Exon 1 | 102,917,130 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1A>T | Exon 1 | 102,917,130 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2T>C | Exon 1 | 102,917,129 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2T>G | Exon 1 | 102,917,129 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.3G>A | Exon 1 | 102,917,128 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.3G>C | Exon 1 | 102,917,128 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.47_48dup | Exon 1 | 102,917,082 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.60+4A>T | Intron 1 | 102,917,067 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.60+5G>C | Intron 1 | 102,917,066 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.168_168+1delinsAA | Intron 2 | 102,912,790 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.168+1G>A | Intron 2 | 102,912,790 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.168+1G>T | Intron 2 | 102,912,790 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.168+2T>C | Intron 2 | 102,912,789 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.168+5G>A | Intron 2 | 102,912,786 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.169-1G>A | Intron 2 | 102,894,919 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.169-2A>G | Intron 2 | 102,894,920 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.169-13T>G | Intron 2 | 102,894,931 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.183C>A | Exon 3 | 102,894,904 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.266_267insG | Exon 3 | 102,894,820 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.352+1G>A | Intron 3 | 102,894,734 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.353-2A>G | Intron 3 | 102,877,552 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.353-2A>T | Intron 3 | 102,877,552 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.353-6T>A | Intron 3 | 102,877,556 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.441+1G>A | Intron 4 | 102,877,461 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.441+1G>C | Intron 4 | 102,877,461 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.441+2T>A | Intron 4 | 102,877,460 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.441+2T>G | Intron 4 | 102,877,460 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.441+3G>C | Intron 4 | 102,877,459 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.441+5G>A | Intron 4 | 102,877,457 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.441+5G>T | Intron 4 | 102,877,457 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.441+6T>A | Intron 4 | 102,877,456 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.442-1G>A | Intron 4 | 102,866,664 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.442-1G>C | Intron 4 | 102,866,664 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.442-2A>C | Intron 4 | 102,866,665 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.442-2A>G | Intron 4 | 102,866,665 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.442-1377_509+226del | Intron 5 | 102,866,369 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.442-4403_509+883del | Intron 5 | 102,865,712 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.443_509+1del | Intron 5 | 102,866,594 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.498C>G | Exon 5 | 102,866,607 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.509+1G>A | Intron 5 | 102,866,595 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.510-1G>A | Intron 5 | 102,855,333 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.510-1G>C | Intron 5 | 102,855,333 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.510-2A>G | Intron 5 | 102,855,334 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.510-19_667del | Exon 6 | 102,855,174 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.510-735_912+434del | Intron 8 | 102,851,252 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.560G>A | Exon 6 | 102,855,282 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.618C>A | Exon 6 | 102,855,224 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.699C>G | Exon 6 | 102,855,143 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.707-1G>A | Intron 6 | 102,852,951 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.707-1G>C | Intron 6 | 102,852,951 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.707-2A>G | Intron 6 | 102,852,952 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.707-2del | Intron 6 | 102,852,951 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.842+1G>A | Intron 7 | 102,852,814 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.842+1G>T | Intron 7 | 102,852,814 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.842+2T>A | Intron 7 | 102,852,813 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.842+3G>C | Intron 7 | 102,852,812 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.842+4A>G | Intron 7 | 102,852,811 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.843-1G>A | Intron 7 | 102,851,757 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.843-2A>T | Intron 7 | 102,851,758 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.843-5T>C | Intron 7 | 102,851,761 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.865G>A | Exon 8 | 102,851,734 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.912+1G>A | Intron 8 | 102,851,686 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.912+1G>C | Intron 8 | 102,851,686 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.912+1G>T | Intron 8 | 102,851,686 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.912+2T>C | Intron 8 | 102,851,685 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.912G>A | Exon 8 | 102,851,687 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.913-2A>G | Intron 8 | 102,846,953 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.913-7A>G | Intron 8 | 102,846,958 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.914_1199+1del | Intron 11 | 102,843,644 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.969+1G>A | Intron 9 | 102,846,894 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |