| | LOC130060143, LOC130060144 +963 more | Copy number gain | See cases | |
| | MIR22HG, MIR3183 +464 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130059866, LOC130059867 +499 more | Copy number loss | See cases | |
| | LOC130060077, LOC130060078 +911 more | Copy number gain | Chromosome 17p13.3 duplication syndrome | |
| | LOC130060025, LOC130060026 +458 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130060037, LOC130060038 +291 more | Copy number loss | See cases | |
| | LOC130060059, LOC130060060 +167 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | C17orf107, C17orf114 +68 more | Duplication | 7p22.1 microduplication syndrome | |
| | LOC130060045, LOC130060046 +17 more | Duplication | Congenital myasthenic syndrome 4A | |
| | CAMTA2, CAMTA2-AS1 +48 more | Copy number loss | See cases | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Bernard-Soulier syndrome, type A2, autosomal dominant +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Bernard-Soulier syndrome, type A2, autosomal dominant +1 more | |
| | | Single nucleotide variant (missense variant) | Pseudo von Willebrand disease +2 more | |
| | | Single nucleotide variant (missense variant) | Bernard Soulier syndrome | |
| | | Single nucleotide variant (missense variant) | Bernard-Soulier syndrome, type A2, autosomal dominant | |
| | | Single nucleotide variant (missense variant) | Macrothrombocytopenia | |
| | | Deletion (frameshift variant) | Bernard Soulier syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Bernard-Soulier syndrome, type A2, autosomal dominant +5 more | |
| | | Single nucleotide variant (missense variant) | Bernard-Soulier syndrome, type A2, autosomal dominant | |
| | | Single nucleotide variant (synonymous variant) | GP1BA-related condition | |
| | | Deletion (frameshift variant) | Macrothrombocytopenia | |
| | | Microsatellite (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Bernard-Soulier syndrome, type A2, autosomal dominant +1 more | |
| | | Single nucleotide variant (missense variant) | GP1BA-related condition +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | GP1BA-related condition | |
| | | Single nucleotide variant (missense variant) | Bernard-Soulier syndrome, type A2, autosomal dominant | |
| | | Single nucleotide variant (missense variant) | GP1BA-related condition | |
| | | Single nucleotide variant (missense variant) | Macrothrombocytopenia | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Macrothrombocytopenia | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Bernard Soulier syndrome | |
| | | Single nucleotide variant (missense variant) | Bernard-Soulier syndrome, type A2, autosomal dominant | |
| | | Deletion (inframe_deletion) | Bernard Soulier syndrome | |
| | | Single nucleotide variant (missense variant) | GP1BA-related condition +1 more | |
| | | Single nucleotide variant (missense variant) | GP1BA-related condition | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Bernard-Soulier syndrome, type A2, autosomal dominant | |
| | | Single nucleotide variant (missense variant) | Bernard-Soulier syndrome, type A2, autosomal dominant +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Thrombocytopenia | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Abnormal bleeding +1 more | |
| | | Single nucleotide variant (synonymous variant) | GP1BA-related condition | |
| | | Single nucleotide variant (missense variant) | Bernard Soulier syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Thrombocytopenia +2 more | |
| | | Single nucleotide variant (missense variant) | Bernard Soulier syndrome +1 more | |
| | | Duplication (frameshift variant) | Thrombocytopenia | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (nonsense) | Bernard Soulier syndrome | |
| | | Single nucleotide variant (synonymous variant) | GP1BA-related condition | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Bernard-Soulier syndrome, type A2, autosomal dominant | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | GP1BA-related condition | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Microsatellite (inframe_deletion) | not provided | |
| | | Single nucleotide variant (missense variant) | Pseudo von Willebrand disease | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | GP1BA-related condition | |
| | | Single nucleotide variant (synonymous variant) | GP1BA-related condition | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | GP1BA-related condition | |
| | | Single nucleotide variant (missense variant) | Bernard-Soulier syndrome, type A2, autosomal dominant | |
| | | Single nucleotide variant (missense variant) | Bernard Soulier syndrome | |
| | | Single nucleotide variant (missense variant) | GP1BA-related condition +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Bernard Soulier syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Bernard Soulier syndrome +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Bernard Soulier syndrome | |
| | | Single nucleotide variant (missense variant) | Bernard-Soulier syndrome, type A2, autosomal dominant | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not specified +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Pseudo von Willebrand disease | |
| | | Single nucleotide variant (missense variant) | Thrombocytopenia | |
| | | Single nucleotide variant (missense variant) | Pseudo von Willebrand disease | |
| | | Single nucleotide variant (missense variant) | Pseudo von Willebrand disease | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | not specified +1 more | |
| | | Single nucleotide variant (missense variant) | Pseudo von Willebrand disease | |
| | | Single nucleotide variant (missense variant) | not provided | |