Variants
ITGA2B variants
The 224 ITGA2B 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 |
|---|---|---|---|---|---|
| A31Pfs*2 | c.91del | Exon 1 | 44,389,382 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A139V | c.416C>T | Exon 4 | 44,385,709 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| A216V | c.647C>T | Exon 6 | 44,385,187 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| A232Cfs*24 | c.693dup | Exon 7 | 44,385,053 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A271G | c.812C>G | Exon 8 | 44,384,573 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| A297P | c.889G>C | Exon 9 | 44,384,313 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| A341T | c.1021G>A | Exon 12 | 44,383,682 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| A477Gfs*111 | c.1424_1427dup | Exon 14 | 44,380,611 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A477P | c.1429G>C | Exon 14 | 44,380,610 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| A658Efs*37 | c.1973del | Exon 20 | 44,378,482 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| A688V | c.2063C>T | Exon 20 | 44,378,393 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| c.188+1G>A | Intron 1 | 44,389,285 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.188+471_892-70delinsGCCACCCACAGTGCAATCCCACA | Intron 9 | 44,384,208 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.189-319_236del | Exon 2 | 44,386,083 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.310+1G>A | Intron 2 | 44,386,009 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.310+3_310+6del | Intron 2 | 44,386,003 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.408G>C | Exon 3 | 44,385,824 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.409-1G>A | Intron 3 | 44,385,717 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.409-2_419del | Exon 4 | 44,385,705 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.574+1G>A | Intron 4 | 44,385,550 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.574+5G>C | Intron 4 | 44,385,546 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.575-2A>T | Intron 4 | 44,385,337 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.624+2C>A | Intron 5 | 44,385,284 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.625-1G>A | Intron 5 | 44,385,210 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.799+2T>C | Intron 7 | 44,384,946 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.800-2A>G | Intron 7 | 44,384,587 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.998+1G>C | Intron 11 | 44,383,893 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1210+5G>A | Intron 12 | 44,383,488 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1210+105A>G | Intron 12 | 44,383,388 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1211-1G>C | Intron 12 | 44,381,062 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1233C>A | Exon 13 | 44,381,039 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1440-13_1440-1del | Exon 15 | 44,380,490 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1544+1G>A | Intron 15 | 44,380,385 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1545-1del | Exon 16 | 44,380,301 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1545-1G>A | Intron 15 | 44,380,302 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1600+1G>A | Intron 16 | 44,380,245 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1752+2T>C | Intron 17 | 44,380,000 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1753-1G>A | Intron 17 | 44,379,815 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1879-2A>G | Intron 18 | 44,378,712 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1946+1G>A | Intron 19 | 44,378,642 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1946+3G>T | Intron 19 | 44,378,640 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1947-2A>G | Intron 19 | 44,378,511 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2094+2T>C | Intron 20 | 44,378,360 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2095-19T>A | Intron 20 | 44,377,809 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2267+1G>T | Intron 22 | 44,377,008 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2348+5G>C | Intron 23 | 44,376,303 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2449-1G>C | Intron 24 | 44,375,986 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2602-2A>G | Intron 25 | 44,375,718 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2602-3C>G | Intron 25 | 44,375,719 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2748_2757del | Exon 27 | 44,375,081 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2841+1G>T | Intron 27 | 44,374,997 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2883del | Exon 28 | 44,374,718 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2898_2902dup | Exon 28 | 44,374,699 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2902del | Exon 28 | 44,374,699 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2930del | Exon 28 | 44,374,671 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2965del | Exon 29 | 44,374,448 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2975del | Exon 29 | 44,374,438 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.3060+2T>C | Intron 29 | 44,374,352 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.3060G>A | Exon 29 | 44,374,354 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.3061-1G>A | Intron 29 | 44,372,424 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.3091del | Exon 30 | 44,372,392 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.3092del | Exon 30 | 44,372,391 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.3115_3119dup | Exon 30 | 44,372,364 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| C138X | c.414C>A | Exon 4 | 44,385,711 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| C161Afs*22 | c.480del | Exon 4 | 44,385,644 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| C177X | c.531T>A | Exon 4 | 44,385,594 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| C521X | c.1563T>A | Exon 16 | 44,380,283 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| C633Wfs*17 | c.1899del | Exon 19 | 44,378,689 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| C639Mfs*22 | c.1913dup | Exon 19 | 44,378,675 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| C705R | c.2113T>C | Exon 21 | 44,377,772 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| C718Wfs*2 | c.2153dup | Exon 21 | 44,377,731 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| D59Tfs*52 | c.175del | Exon 1 | 44,389,298 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| D133E | c.399C>G | Exon 3 | 44,385,833 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| D278Ifs*101 | c.832del | Exon 8 | 44,384,552 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| D396N | c.1186G>A | Exon 12 | 44,383,517 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| D591A | c.1772A>C | Exon 18 | 44,379,795 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| D591Gfs*47 | c.1771dup | Exon 18 | 44,379,795 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| D667Gfs*11 | c.1999dup | Exon 20 | 44,378,456 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| D805Efs*11 | c.2415_2416del | Exon 24 | 44,376,116 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E80Dfs*22 | c.240_241del | Exon 2 | 44,386,078 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E154del | c.460_462del | Exon 4 | 44,385,662 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| E355K | c.1063G>A | Exon 12 | 44,383,640 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E538X | c.1612G>T | Exon 17 | 44,380,142 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E677K | c.2029G>A | Exon 20 | 44,378,427 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| E746X | c.2236G>T | Exon 22 | 44,377,040 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E776_A777dup | c.2326_2331dup | Exon 23 | 44,376,324 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| E780Sfs*46 | c.2338del | Exon 23 | 44,376,317 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E979Sfs*56 | c.2929_2930del | Exon 28 | 44,374,671 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| E992Gfs*42 | c.2975_2979del | Exon 29 | 44,374,434 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| F191_S192insRT | c.575_576insGACAAG | Exon 5 | 44,385,334 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| F191V | c.571T>G | Exon 4 | 44,385,554 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| F202C | c.605T>G | Exon 5 | 44,385,305 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| F320S | c.959T>C | Exon 11 | 44,383,933 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| G44V | c.131G>T | Exon 1 | 44,389,343 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| G47Wfs*56 | c.138dup | Exon 1 | 44,389,335 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| G75Afs*36 | c.224del | Exon 2 | 44,386,095 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| G83Rfs*20 | c.245dup | Exon 2 | 44,386,074 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| G159S | c.475G>A | Exon 4 | 44,385,650 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| G159V | c.476G>T | Exon 4 | 44,385,649 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| G201S | c.601G>A | Exon 5 | 44,385,309 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |