Variants
ITGB3 variants
The 147 ITGB3 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 |
|---|---|---|---|---|---|
| A19Gfs*36 | c.55dup | Exon 1 | 47,253,911 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A76Pfs*10 | c.225_226del | Exon 3 | 47,283,410 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A283Ifs*12 | c.847_848del | Exon 6 | 47,287,138 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A398Pfs*24 | c.1192del | Exon 9 | 47,291,019 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| c.79+1G>A | Intron 1 | 47,253,941 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.161_165+1delinsCTGATT | Exon 2 | 47,274,500 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.166-2A>G | Intron 2 | 47,283,352 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.361+1G>A | Intron 3 | 47,283,550 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.362-1G>A | Intron 3 | 47,284,442 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.612_614+1del | Exon 4 | 47,284,692 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.614+1G>T | Intron 4 | 47,284,696 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.774T>A | Exon 5 | 47,286,419 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.777+1G>A | Intron 5 | 47,286,423 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.856G>A | Exon 6 | 47,287,148 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.940-2A>G | Intron 6 | 47,289,679 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1126-1_1126insA | Intron 8 | 47,290,953 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1260G>A | Exon 9 | 47,291,088 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1431C>T | Exon 10 | 47,292,309 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1815C>T | Exon 11 | 47,299,432 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1913+1G>A | Intron 11 | 47,299,531 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1913+5G>T | Intron 11 | 47,299,535 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2014+1G>A | Intron 12 | 47,300,579 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2014+5G>A | Intron 12 | 47,300,583 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2301+1G>C | Intron 14 | 47,307,638 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2302-1G>A | Intron 14 | 47,310,138 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| C39G | c.115T>G | Exon 2 | 47,274,454 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| C42X | c.122_125dup | Exon 2 | 47,274,460 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| C75Lfs*10 | c.224del | Exon 3 | 47,283,411 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| C210S | c.629G>C | Exon 5 | 47,286,274 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| C258X | c.774_775del | Exon 5 | 47,286,416 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| C400Y | c.1199G>A | Exon 9 | 47,291,027 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| C463S | c.1388G>C | Exon 10 | 47,292,266 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| C483Y | c.1448G>A | Exon 10 | 47,292,326 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| C486Afs*183 | c.1456del | Exon 10 | 47,292,333 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| C486W | c.1458C>G | Exon 10 | 47,292,336 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| C499R | c.1495T>C | Exon 10 | 47,292,373 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| C532F | c.1595G>T | Exon 10 | 47,292,473 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| C532R | c.1594T>C | Exon 10 | 47,292,472 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| C532Y | c.1595G>A | Exon 10 | 47,292,473 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| C547G | c.1639T>G | Exon 10 | 47,292,517 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| C547W | c.1641C>G | Exon 10 | 47,292,519 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| C547X | c.1641C>A | Exon 10 | 47,292,519 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| C549S | c.1646G>C | Exon 10 | 47,292,524 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| C568R | c.1702T>C | Exon 11 | 47,299,319 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| C601G | c.1801T>G | Exon 11 | 47,299,418 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| C601R | c.1801T>C | Exon 11 | 47,299,418 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| C624Y | c.1871G>A | Exon 11 | 47,299,488 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| D139H | c.415G>C | Exon 4 | 47,284,496 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| D145N | c.433G>A | Exon 4 | 47,284,514 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| D145Y | c.433G>T | Exon 4 | 47,284,514 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| D243H | c.727G>C | Exon 5 | 47,286,372 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| D243V | c.728A>T | Exon 5 | 47,286,373 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| D250G | c.749A>G | Exon 5 | 47,286,394 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| D296_H300del | c.887_901del | Exon 6 | 47,287,175 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| D314A | c.941A>C | Exon 7 | 47,289,682 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| D314Y | c.940G>T | Exon 7 | 47,289,681 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| D663X | c.1986dup | Exon 12 | 47,300,549 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| D677Efs*4 | c.2031_2041del | Exon 13 | 47,302,736 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E134Gfs*10 | c.401del | Exon 4 | 47,284,481 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E435X | c.1303G>T | Exon 10 | 47,292,181 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E437X | c.1309G>T | Exon 10 | 47,292,187 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E468X | c.1402G>T | Exon 10 | 47,292,280 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E642X | c.1924G>T | Exon 12 | 47,300,488 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E664X | c.1990G>T | Exon 12 | 47,300,554 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| F396Sfs*26 | c.1185del | Exon 9 | 47,291,011 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| F539Wfs*11 | c.1616_1617del | Exon 10 | 47,292,492 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| G286R | c.856G>C | Exon 6 | 47,287,148 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| G517Vfs*152 | c.1550del | Exon 10 | 47,292,425 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| G566D | c.1697G>A | Exon 11 | 47,299,314 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| G605D | c.1814G>A | Exon 11 | 47,299,431 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| G605S | c.1813G>A | Exon 11 | 47,299,430 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| G716V | c.2147G>T | Exon 14 | 47,307,483 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| H281P | c.842A>C | Exon 6 | 47,287,134 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| H306P | c.917A>C | Exon 6 | 47,287,209 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| I330N | c.989T>A | Exon 7 | 47,289,730 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| I351_G353delinsM | c.1053_1058del | Exon 8 | 47,290,201 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| I730_L735delinsHWLI | c.2187_2203delinsTCATTGGCTCA | Exon 14 | 47,307,523 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| I740Sfs*89 | c.2217del | Exon 14 | 47,307,552 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| L118H | c.353T>A | Exon 3 | 47,283,541 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| L143S | c.428T>C | Exon 4 | 47,284,509 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| L143W | c.428T>G | Exon 4 | 47,284,509 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| L222P | c.665T>C | Exon 5 | 47,286,310 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| L271Ffs*7 | c.812dup | Exon 6 | 47,287,102 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| L288P | c.863T>C | Exon 6 | 47,287,155 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| L705Cfs*4 | c.2113del | Exon 13 | 47,302,817 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| M144R | c.431T>G | Exon 4 | 47,284,512 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| M150I | c.450G>A | Exon 4 | 47,284,531 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| M150V | c.448A>G | Exon 4 | 47,284,529 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| M253Cfs*30 | c.756del | Exon 5 | 47,286,400 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| N201Tfs*6 | c.602del | Exon 4 | 47,284,679 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| N365S | c.1094A>G | Exon 8 | 47,290,243 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| N470Kfs*2 | c.1409dup | Exon 10 | 47,292,285 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| N470X | c.1406dup | Exon 10 | 47,292,282 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| N597Kfs*72 | c.1791del | Exon 11 | 47,299,407 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| P189S | c.565C>T | Exon 4 | 47,284,646 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| Q40X | c.118C>T | Exon 2 | 47,274,457 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| Q41X | c.121C>T | Exon 2 | 47,274,460 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| Q225Rfs*2 | c.674del | Exon 5 | 47,286,318 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| Q254K | c.760C>A | Exon 5 | 47,286,405 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| Q254R | c.761A>G | Exon 5 | 47,286,406 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |