Variants
GP1BA variants
The 44 GP1BA 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 |
|---|---|---|---|---|---|
| A318Pfs*17 | c.952del | Exon 2 | 4,933,555 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| c.1077del | Exon 2 | 4,933,679 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| C81R | c.241T>C | Exon 2 | 4,932,845 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| C225R | c.673T>C | Exon 2 | 4,933,277 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| C225S | c.673T>A | Exon 2 | 4,933,277 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| D79Efs*2 | c.236dup | Exon 2 | 4,932,839 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| D89Efs*63 | c.266dup | Exon 2 | 4,932,869 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| E347X | c.1039G>T | Exon 2 | 4,933,643 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| E489Nfs*64 | c.1465del | Exon 2 | 4,934,068 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| F208Lfs*48 | c.624del | Exon 2 | 4,933,222 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| K35Rfs*4 | c.104del | Exon 2 | 4,932,706 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| L8Sfs*22 | c.21del | Exon 2 | 4,932,624 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| L52Pfs*5 | c.154dup | Exon 2 | 4,932,756 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| L67X | c.199del | Exon 2 | 4,932,800 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| L92Rfs*20 | c.275del | Exon 2 | 4,932,878 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| L145P | c.434T>C | Exon 2 | 4,933,038 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| L195del | c.584_586del | Exon 2 | 4,933,183 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| L365Rfs*14 | c.1094_1101del | Exon 2 | 4,933,697 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| L479Ffs*19 | c.1436dup | Exon 2 | 4,934,035 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| L521Pfs*95 | c.1562_1563del | Exon 2 | 4,934,163 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| L531Rfs*22 | c.1592del | Exon 2 | 4,934,195 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| M338Cfs*62 | c.1012del | Exon 2 | 4,933,613 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| M338Nfs*13 | c.1012dup | Exon 2 | 4,933,613 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| N32Tfs*5 | c.95_101del | Exon 2 | 4,932,694 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| N362Kfs*20 | c.1082dup | Exon 2 | 4,933,682 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| P357Tfs*2 | c.1064dup | Exon 2 | 4,933,666 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| Q346X | c.1036C>T | Exon 2 | 4,933,640 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| S55Rfs*12 | c.165_168del | Exon 2 | 4,932,764 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| S130Rfs*18 | c.387del | Exon 2 | 4,932,989 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| S267X | c.800C>G | Exon 2 | 4,933,404 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| S420Pfs*54 | c.1253_1257dup | Exon 2 | 4,933,856 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| S486Ifs*12 | c.1454dup | Exon 2 | 4,934,057 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| S486X | c.1457C>A | Exon 2 | 4,934,061 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| T114Efs*16 | c.339_340insGA | Exon 2 | 4,932,943 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| T316Hfs*35 | c.941dup | Exon 2 | 4,933,543 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| T494Pfs*59 | c.1480del | Exon 2 | 4,934,077 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| V94Sfs*58 | c.278dup | Exon 2 | 4,932,880 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| V311Gfs*39 | c.932_933del | Exon 2 | 4,933,533 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| W223G | c.667T>G | Exon 2 | 4,933,271 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| W329X | c.987G>A | Exon 2 | 4,933,591 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| W359X | c.1077G>A | Exon 2 | 4,933,681 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| W540X | c.1620G>A | Exon 2 | 4,934,224 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| Y294X | c.882C>G | Exon 2 | 4,933,486 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| Y534Cfs*82 | c.1601_1602del | Exon 2 | 4,934,203 | Pathogenic | 3 stars out of 4 reviewed by expert panel |