Variants
APOB variants
The 30 APOB 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 |
|---|---|---|---|---|---|
| c.78_82+5del | Intron 1 | 21,043,858 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.226_237+1del | Intron 3 | 21,042,359 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.537+1G>T | Intron 5 | 21,037,957 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1830-1G>A | Intron 13 | 21,028,066 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2604+1G>A | Intron 17 | 21,023,524 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| E137X | c.409G>T | Exon 5 | 21,038,086 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E3493K | c.10477G>A | Exon 26 | 21,006,391 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| F705Lfs*30 | c.2115del | Exon 15 | 21,026,916 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| F3039Sfs*5 | c.9115_9119del | Exon 26 | 21,007,748 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G3617Afs*6 | c.10848del | Exon 26 | 21,006,019 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| K3067Rfs*2 | c.9200del | Exon 26 | 21,007,667 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| K3394N | c.10182G>T | Exon 26 | 21,006,686 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| N1755Vfs*2 | c.5263_5266del | Exon 26 | 21,011,601 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q1551X | c.4651C>T | Exon 26 | 21,012,217 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R439X | c.1315C>T | Exon 10 | 21,032,391 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R490W | c.1468C>T | Exon 11 | 21,029,900 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R558X | c.1672C>T | Exon 13 | 21,028,484 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R2012X | c.6034C>T | Exon 26 | 21,010,834 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R2513X | c.7537C>T | Exon 26 | 21,009,331 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R2522X | c.7564C>T | Exon 26 | 21,009,304 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R2534X | c.7600C>T | Exon 26 | 21,009,268 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R3059C | c.9175C>T | Exon 26 | 21,007,693 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R3059H | c.9176G>A | Exon 26 | 21,007,692 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R3527Q | c.10580G>A | Exon 26 | 21,006,288 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R3527W | c.10579C>T | Exon 26 | 21,006,289 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| T3413Mfs*2 | c.10238del | Exon 26 | 21,006,629 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| V1856Cfs*2 | c.5566_5567del | Exon 26 | 21,011,300 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| W3594X | c.10781G>A | Exon 26 | 21,006,087 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Y3560C | c.10679A>G | Exon 26 | 21,006,189 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Y3680X | c.11040T>G | Exon 26 | 21,005,828 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |