| | | Single nucleotide variant (missense variant) | not provided | |
| | | Microsatellite | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (splice donor variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (splice acceptor variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | ITGB3-related condition +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Deletion (inframe_indel) | Glanzmann thrombasthenia | |
| | ITGB3, LOC130061045 (T275I) | Single nucleotide variant (missense variant) | ITGB3-related condition | |
| | | Duplication (inframe_indel +1 more) | ITGB3-related condition | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Indel (inframe_indel) | Glanzmann thrombasthenia | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (splice donor variant) | Glanzmann thrombasthenia | |
| | ITGB3, LOC130061043 (Y216H) | Single nucleotide variant (missense variant) | Glanzmann thrombasthenia | |
| | | Single nucleotide variant (missense variant +1 more) | Glanzmann thrombasthenia | |
| | ITGB3, LOC130061045 (L271fs) | Duplication (frameshift variant) | Glanzmann thrombasthenia | |
| | ITGB3, LOC130061043 (V219M) | Single nucleotide variant (missense variant) | Glanzmann thrombasthenia | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | ITGB3, LOC130061045 (D277V) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | ITGB3, LOC130061045 (A283fs) | Deletion (frameshift variant) | Glanzmann thrombasthenia | |
| | ITGB3, LOC130061044 (C258S) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Bleeding disorder, platelet-type, 24 | |
| | | Single nucleotide variant (missense variant) | Bleeding disorder, platelet-type, 24 | |
| | | Single nucleotide variant (missense variant) | Glanzmann thrombasthenia 1 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Glanzmann thrombasthenia | |
| | EFCAB13-DT, ITGB3 (I740fs) | Deletion (frameshift variant) | Glanzmann thrombasthenia | |
| | EFCAB13-DT, ITGB3 (I740fs) | Insertion (frameshift variant) | Glanzmann thrombasthenia 1 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | ITGB3, LOC130061045 (G286R) | Single nucleotide variant (missense variant) | Glanzmann thrombasthenia | |
| | LOC130061045, ITGB3 (H281P) | Single nucleotide variant (missense variant) | Glanzmann thrombasthenia | |
| | | Single nucleotide variant (missense variant) | Glanzmann thrombasthenia | |
| | ITGB3, LOC130061043 (H218Y) | Single nucleotide variant (missense variant) | Glanzmann thrombasthenia | |
| | ITGB3, LOC130061044 (M253fs) | Deletion (frameshift variant) | Glanzmann thrombasthenia | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | ITGB3, LOC130061043 (T221M) | Single nucleotide variant (missense variant) | Glanzmann thrombasthenia | |
| | | Single nucleotide variant (splice acceptor variant) | Glanzmann thrombasthenia | |
| | ITGB3, LOC110121475 (S422N) | Single nucleotide variant (missense variant) | Glanzmann thrombasthenia | |
| | ITGB3, LOC110121475 (V421M) | Single nucleotide variant (missense variant) | Glanzmann thrombasthenia | |