| | GP1BB, SEPT5-GP1BB (H164L) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | SEPT5-GP1BB, SEPTIN5 (P328L) | Single nucleotide variant (non-coding transcript variant +2 more) | not specified | |
| | SEPT5-GP1BB, SEPTIN5 (E326D +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | SEPT5-GP1BB, SEPTIN5 (L316V +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | SEPT5-GP1BB, SEPTIN5 (A298V +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | SEPT5-GP1BB, SEPTIN5 (R216Q +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | SEPT5-GP1BB, SEPTIN5 (F163L +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | SEPT5-GP1BB, SEPTIN5 (S161C +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | SEPT5-GP1BB, SEPTIN5 (D139A +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | SEPT5-GP1BB, SEPTIN5 (T109M +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | SEPT5-GP1BB, SEPTIN5 (I106V +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | SEPT5-GP1BB, SEPTIN5 (L89V +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | SEPT5-GP1BB, SEPTIN5 (K74Q +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | SEPT5-GP1BB, SEPTIN5 (H71N +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | GP1BB, SEPT5-GP1BB (A182V) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | GP1BB, SEPT5-GP1BB (G159V) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | GP1BB, SEPT5-GP1BB (A150T) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | GP1BB, SEPT5-GP1BB (V119M) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | GP1BB, SEPT5-GP1BB (P18fs) | Deletion (non-coding transcript variant +1 more) | Bernard Soulier syndrome | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | GP1BB-related disorder | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | GP1BB-related disorder | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | GP1BB-related disorder | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | GP1BB-related disorder | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | GP1BB-related disorder | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Bernard Soulier syndrome | |
| | GP1BB, SEPT5-GP1BB (T83fs) | Duplication (frameshift variant +1 more) | Bernard Soulier 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 disorder | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | GP1BB-related disorder | |
| | SEPT5-GP1BB, SEPTIN5 (K71N +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | GP1BB, SEPT5-GP1BB (P145S) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Bernard Soulier 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 | |
| | SEPT5-GP1BB, SEPTIN5 (E287*) | Single nucleotide variant (non-coding transcript variant +2 more) | not specified | |
| | GP1BB, SEPT5-GP1BB (A140S) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | GP1BB, SEPT5-GP1BB (P195R) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | GP1BB, SEPT5-GP1BB (A184D) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | SEPT5-GP1BB, SEPTIN5 (R168W +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | SEPT5-GP1BB, SEPTIN5 (S83N +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | SEPT5-GP1BB, SEPTIN5 (R236W +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | GP1BB, SEPT5-GP1BB (L146F) | Single nucleotide variant (non-coding transcript variant +1 more) | Bernard Soulier syndrome +1 more | |
| | GP1BB, SEPT5-GP1BB (L178R) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | GP1BB, SEPT5-GP1BB (L166M) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | GP1BB, SEPT5-GP1BB (P108A) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | | 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 | |
| | GP1BB, SEPT5-GP1BB (Q154fs) | Deletion (frameshift variant +1 more) | Bernard Soulier syndrome | |
| | GP1BB, SEPT5-GP1BB (H164fs) | Duplication (non-coding transcript variant +1 more) | Bernard Soulier syndrome | |
| | | 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 | |
| | 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 | |
| | GP1BB, SEPT5-GP1BB (L158R) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | GP1BB, SEPT5-GP1BB (A150fs) | Duplication (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | GP1BB, SEPT5-GP1BB (C141*) | Single nucleotide variant (non-coding transcript variant +1 more) | Bernard Soulier syndrome | |
| | GP1BB, SEPT5-GP1BB (A182T) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Bernard Soulier syndrome | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Bernard Soulier syndrome +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Macrothrombocytopenia | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Macrothrombocytopenia | GConflicting classifications of pathogenicity |
| | | Deletion (non-coding transcript variant +1 more) | Macrothrombocytopenia | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | Macrothrombocytopenia | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | GP1BB, SEPT5-GP1BB (P130L) | Single nucleotide variant (non-coding transcript variant +1 more) | GP1BB-related disorder +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | SEPT5-GP1BB, SEPTIN5 (P335T) | Single nucleotide variant (non-coding transcript variant +2 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | SEPT5-GP1BB, SEPTIN5 (A339T) | Single nucleotide variant (non-coding transcript variant +2 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +1 more | |
| | GP1BB, SEPT5-GP1BB (A182S) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +1 more | |