| | LOC130003254, LOC130003255 +1221 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | BAMBI, C10orf126 +101 more | Copy number loss | See cases | |
| | | Single nucleotide variant (3 prime UTR variant) | Thrombocytopenia 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Thrombocytopenia 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Thrombocytopenia 2 | |
| | | Deletion (3 prime UTR variant) | Thrombocytopenia | |
| | | Single nucleotide variant (3 prime UTR variant) | Thrombocytopenia 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Thrombocytopenia 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Thrombocytopenia 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Thrombocytopenia 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Thrombocytopenia 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Thrombocytopenia 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Thrombocytopenia 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Thrombocytopenia 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Thrombocytopenia 2 | |
| | | Duplication (3 prime UTR variant) | Thrombocytopenia | |
| | | Single nucleotide variant (3 prime UTR variant) | Thrombocytopenia 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Thrombocytopenia 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Thrombocytopenia 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Thrombocytopenia 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Thrombocytopenia 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Thrombocytopenia 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Thrombocytopenia 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Thrombocytopenia 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Thrombocytopenia 2 | |
| | | Deletion (3 prime UTR variant) | not provided +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Thrombocytopenia 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | ANKRD26-related condition | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | Thrombocytopenia 2 +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (frameshift variant) | Thrombocytopenia 2 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Microsatellite (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Thrombocytopenia 2 | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Thrombocytopenia 2 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense 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 (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (frameshift variant) | Thrombocytopenia 2 | |
| | ANKRD26 (K1664del +1 more) | Deletion (inframe_deletion +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | ANKRD26-related condition +2 more | |
| | | Duplication (frameshift variant) | not provided | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Duplication (intron variant) | ANKRD26-related condition | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (splice donor variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | ANKRD26-related condition | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | ANKRD26-related condition | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Thrombocytopenia 2 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | 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) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Microsatellite (splice donor variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (splice donor variant) | not specified | |