| | | Single nucleotide variant (non-coding transcript variant +1 more) | GP1BB-related condition | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | GP1BB-related condition | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | GP1BB-related condition | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | GP1BB-related condition | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | GP1BB-related condition | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Bernard Soulier syndrome | |
| | GP1BB, SEPT5-GP1BB (T83fs) | Duplication (frameshift variant +1 more) | Bernard Soulier syndrome | |
| | | Copy number gain | Microcephaly-digital anomalies-intellectual disability syndrome | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | | Deletion (non-coding transcript variant +1 more) | GP1BB-related condition | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | GP1BB-related condition | |
| | GP1BB, SEPT5-GP1BB (P145S) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | | Copy number loss | DiGeorge syndrome | |
| | | Copy number gain | Chromosome 22q11.2 deletion syndrome, distal +1 more | |
| | | Copy number gain | Chromosome 22q11.2 deletion syndrome, distal | |
| | | Copy number loss | DiGeorge syndrome | |
| | | Copy number gain | Chromosome 22q11.2 microduplication syndrome | |
| | LOC130066999, LOC130067004 +170 more | Deletion | Velocardiofacial syndrome | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Bernard Soulier syndrome | |
| | LOC130066967, TSSK2 +170 more | Duplication | Chromosome 22q11.2 microduplication syndrome | |
| | GP1BB, SEPT5-GP1BB (D115Y) | Single nucleotide variant (non-coding transcript variant +1 more) | Bernard Soulier syndrome | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Bernard Soulier syndrome | |
| | GP1BB, SEPT5-GP1BB (R42fs) | Deletion (frameshift variant +1 more) | Bernard Soulier syndrome | |
| | GP1BB, SEPT5-GP1BB (R179fs) | Deletion (non-coding transcript variant +1 more) | Bernard Soulier syndrome | |
| | | Copy number loss | not provided | |
| | GP1BB, SEPT5-GP1BB (A140S) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | GP1BB, SEPT5-GP1BB (P195R) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | GP1BB, SEPT5-GP1BB (A184D) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | | Deletion | 22q11.2 deletion syndrome | |
| | | Deletion | See cases | |
| | GP1BB, SEPT5-GP1BB (L146F) | Single nucleotide variant (non-coding transcript variant +1 more) | Bernard Soulier syndrome +1 more | |
| | | Deletion | Immunodeficiency 51 +1 more | |
| | GP1BB, SEPT5-GP1BB (L178R) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | GP1BB, SEPT5-GP1BB (L166M) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | GP1BB, SEPT5-GP1BB (P108A) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | Syndromic anorectal malformation | |
| | | Copy number loss | Syndromic anorectal malformation | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | Bernard Soulier syndrome | |
| | | Duplication (non-coding transcript variant +1 more) | Bernard Soulier syndrome | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Bernard Soulier syndrome | |
| | SEPT5-GP1BB, GP1BB (Q154fs) | Deletion (non-coding transcript variant +1 more) | Bernard Soulier syndrome | |
| | GP1BB, SEPT5-GP1BB (H164fs) | Duplication (non-coding transcript variant +1 more) | Bernard Soulier syndrome | |
| | | Copy number gain | Chromosome 22q11.2 microduplication syndrome | |
| | | Copy number gain | Chromosome 22q11.2 microduplication syndrome | |
| | | Copy number gain | Chromosome 22q11.2 microduplication syndrome | |
| | | Copy number loss | DiGeorge syndrome | |
| | | Copy number loss | DiGeorge syndrome | |
| | | Copy number loss | DiGeorge syndrome | |
| | | Copy number loss | DiGeorge syndrome | |
| | | Copy number loss | DiGeorge syndrome | |
| | | Copy number loss | DiGeorge syndrome | |
| | LINC01637, LINC02891 +169 more | Duplication | Chromosome 22q11.2 microduplication syndrome | |
| | GNB1L, LOC130066969 +169 more | Deletion | Chromosome 22q11.2 deletion syndrome, distal | |
| | | Copy number loss | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | GP1BB, SEPT5-GP1BB (E109fs) | Microsatellite (non-coding transcript variant +1 more) | Bernard Soulier syndrome | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Bernard Soulier syndrome | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | Bernard Soulier syndrome | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Bernard Soulier syndrome | |
| | GP1BB, SEPT5-GP1BB (L167P) | Single nucleotide variant (non-coding transcript variant +1 more) | Bernard Soulier syndrome | |
| | GP1BB, SEPT5-GP1BB (W148*) | Single nucleotide variant (non-coding transcript variant +1 more) | Bernard Soulier syndrome | |
| | LOC130066986, LOC130066994 +170 more | Deletion | Velocardiofacial syndrome | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | GP1BB, SEPT5-GP1BB (G149R) | Single nucleotide variant (non-coding transcript variant +1 more) | Mild macrothrombocytopenia | |
| | | Deletion (non-coding transcript variant +1 more) | Mild macrothrombocytopenia | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Bernard Soulier syndrome | |
| | GP1BB, SEPT5-GP1BB (E134K) | Single nucleotide variant (non-coding transcript variant +1 more) | Bernard Soulier syndrome | |
| | GP1BB, SEPT5-GP1BB (E136*) | Single nucleotide variant (non-coding transcript variant +1 more) | Bernard Soulier syndrome | |