Variants
CYP1B1 variants
The 36 CYP1B1 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 |
|---|---|---|---|---|---|
| A106D | c.317C>A | Exon 2 | 38,075,072 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A179Rfs*18 | c.535del | Exon 2 | 38,074,853 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A237E | c.710C>A | Exon 2 | 38,074,679 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| A330F | c.988_989delinsTT | Exon 2 | 38,074,400 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| c.2T>C | Exon 2 | 38,075,387 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1044-1G>C | Intron 2 | 38,071,311 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1044-2A>G | Intron 2 | 38,071,312 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| C470Y | c.1409G>A | Exon 3 | 38,070,945 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| D374N | c.1120G>A | Exon 3 | 38,071,234 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| E173X | c.517G>T | Exon 2 | 38,074,872 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E262X | c.784G>T | Exon 2 | 38,074,605 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E387K | c.1159G>A | Exon 3 | 38,071,195 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| G61E | c.182G>A | Exon 2 | 38,075,207 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| G365W | c.1093G>T | Exon 3 | 38,071,261 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| L345del | c.1033_1035del | Exon 2 | 38,074,353 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| P400S | c.1198C>T | Exon 3 | 38,071,156 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| P437L | c.1310C>T | Exon 3 | 38,071,044 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| P513_K514del | c.1536_1541del | Exon 3 | 38,070,812 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| R117P | c.350G>C | Exon 2 | 38,075,039 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| R117W | c.349C>T | Exon 2 | 38,075,040 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| R145Pfs*4 | c.434_443del | Exon 2 | 38,074,945 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R290Pfs*37 | c.868dup | Exon 2 | 38,074,520 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R355Hfs*69 | c.1064_1076del | Exon 3 | 38,071,277 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R355X | c.1063C>T | Exon 3 | 38,071,291 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R368C | c.1102C>T | Exon 3 | 38,071,252 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| R390C | c.1168C>T | Exon 3 | 38,071,186 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R390H | c.1169G>A | Exon 3 | 38,071,185 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R390S | c.1168C>A | Exon 3 | 38,071,186 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R444Q | c.1331G>A | Exon 3 | 38,071,023 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R469W | c.1405C>T | Exon 3 | 38,070,949 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R523T | c.1568G>C | Exon 3 | 38,070,786 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| S269_F271del | c.806_814del | Exon 2 | 38,074,574 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| S485F | c.1454C>T | Exon 3 | 38,070,900 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| T404Sfs*30 | c.1200_1209dup | Exon 3 | 38,071,144 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| V364M | c.1090G>A | Exon 3 | 38,071,264 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| W57X | c.171G>A | Exon 2 | 38,075,218 | Pathogenic | 3 stars out of 4 reviewed by expert panel |