| | LOC129935164, LOC129935165 +697 more | Copy number loss | See cases | |
| | LOC126806416, LOC126806417 +591 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC129935343, LOC129935344 +1687 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | ANKRD44, ANKRD44-AS1 +118 more | Copy number loss | See cases | |
| | LOC129935480, LOC129935481 +1299 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC129935350, LOC129935351 +69 more | Copy number loss | See cases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | SF3B1-related disorder +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | SF3B1-related disorder | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | SF3B1-related disorder | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (intron variant) | SF3B1-related disorder | |
| | | Single nucleotide variant (synonymous variant) | SF3B1-related disorder | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (nonsense) | not specified | |
| | | Single nucleotide variant (missense variant) | Papillary renal cell carcinoma type 1 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Acute myeloid leukemia | |
| | | Single nucleotide variant (missense variant) | Acute myeloid leukemia | |
| | | Single nucleotide variant (missense variant) | Acute myeloid leukemia | |
| | | Single nucleotide variant (missense variant) | Acute myeloid leukemia | |
| | | Single nucleotide variant (missense variant) | Acute myeloid leukemia | |
| | | Single nucleotide variant (missense variant) | Acute myeloid leukemia | |
| | | Single nucleotide variant (nonsense) | Acute myeloid leukemia | |
| | | Single nucleotide variant (missense variant) | SF3B1-related disorder +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | SF3B1-related disorder | |
| | | Single nucleotide variant (missense variant) | Acute myeloid leukemia | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Myelodysplastic syndrome progressed to acute myeloid leukemia +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Acute myeloid leukemia | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Malignant melanoma of skin +3 more | |
| | | Single nucleotide variant (missense variant) | B-cell chronic lymphocytic leukemia +4 more | |
| | | Single nucleotide variant (missense variant) | See cases | |
| | | Single nucleotide variant (missense variant) | Malignant melanoma of skin +3 more | |
| | | Single nucleotide variant (missense variant) | B-cell chronic lymphocytic leukemia +3 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | SF3B1-related disorder | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | SF3B1-related disorder +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | Myelodysplastic syndrome | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Copy number loss | not specified | |
| | | Copy number gain | See cases | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | Mosaic trisomy 2 | |
| | | Copy number loss | Chromosome 2q32-q33 deletion syndrome | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number loss | Chromosome 2q32-q33 deletion syndrome | |
| | | Copy number gain | See cases | |
| | | Copy number loss | Chromosome 2q32-q33 deletion syndrome | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Duplication | Neurodevelopmental disorder | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |