Variants
OTC variants
The 49 OTC 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 |
|---|---|---|---|---|---|
| A208T | c.622G>A | Exon 6 | 38,403,699 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A209V | c.626C>T | Exon 6 | 38,403,703 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A233V | c.698C>T | Exon 7 | 38,408,776 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| c.3G>A | Exon 1 | 38,352,699 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.77+1G>A | Intron 1 | 38,352,774 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.298+2T>G | Intron 3 | 38,369,879 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.540+1G>A | Intron 5 | 38,401,429 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.540+265G>A | Intron 5 | 38,401,693 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.663+1G>T | Intron 6 | 38,403,741 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.663+2T>C | Intron 6 | 38,403,742 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.717G>A | Exon 7 | 38,408,795 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.867+1126A>G | Intron 8 | 38,410,151 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| C303G | c.907T>G | Exon 9 | 38,411,901 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E122G | c.365A>G | Exon 4 | 38,381,408 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E273del | c.817_819del | Exon 8 | 38,408,971 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E310del | c.929_931del | Exon 9 | 38,411,917 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G162A | c.485G>C | Exon 5 | 38,401,373 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G188R | c.562G>C | Exon 6 | 38,403,639 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G195R | c.583G>A | Exon 6 | 38,403,660 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G197R | c.589G>A | Exon 6 | 38,403,666 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| I53T | c.158T>C | Exon 2 | 38,367,371 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| I159M | c.477T>G | Exon 5 | 38,401,365 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| K221N | c.663G>T | Exon 6 | 38,403,740 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| L301F | c.903A>T | Exon 9 | 38,411,897 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| L304F | c.912G>T | Exon 9 | 38,411,906 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| M205T | c.614T>C | Exon 6 | 38,403,691 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| M206I | c.618G>A | Exon 6 | 38,403,695 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| M206R | c.617T>G | Exon 6 | 38,403,694 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| M268T | c.803T>C | Exon 8 | 38,408,961 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| N161S | c.482A>G | Exon 5 | 38,401,370 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| P158L | c.473C>T | Exon 5 | 38,401,361 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| P169L | c.506C>T | Exon 5 | 38,401,394 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| P225L | c.674C>T | Exon 7 | 38,408,752 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q69X | c.205C>T | Exon 2 | 38,367,418 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R23X | c.67C>T | Exon 1 | 38,352,763 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R26Q | c.77G>A | Exon 1 | 38,352,773 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R40C | c.118C>T | Exon 2 | 38,367,331 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R40H | c.119G>A | Exon 2 | 38,367,332 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R92Q | c.275G>A | Exon 3 | 38,369,854 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R92X | c.274C>T | Exon 3 | 38,369,853 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R129H | c.386G>A | Exon 4 | 38,381,429 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R141Q | c.422G>A | Exon 5 | 38,401,310 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R277Q | c.830G>A | Exon 8 | 38,408,988 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R277W | c.829C>T | Exon 8 | 38,408,987 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R320X | c.958C>T | Exon 9 | 38,411,952 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| rs749748052 | 38,352,591 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | ||
| S340F | c.1019C>T | Exon 10 | 38,421,036 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| T178M | c.533C>T | Exon 5 | 38,401,421 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| V315D | c.944T>A | Exon 9 | 38,411,938 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |