| | LOC130006205, LOC130006206 +282 more | Copy number loss | See cases | |
| | LOC130006108, LOC130006109 +72 more | Duplication | Cutis laxa, autosomal recessive, type 1B | |
| | | Single nucleotide variant (missense variant +1 more) | Hemifacial microsomia | |
| | LOC130006094, SF3B2 (A26S) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Microsatellite (inframe_insertion) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | SF3B2-related condition | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | SF3B2-related condition | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Duplication (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (splice acceptor variant) | Hemifacial microsomia | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (nonsense) | Hemifacial microsomia | |
| | | Single nucleotide variant (missense variant) | Breast neoplasm +3 more | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Pancreatic adenocarcinoma +6 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases | |
| | LOC130006095, SF3B2 (L828fs) | Duplication (frameshift variant) | Hemifacial microsomia | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not provided | |
| | | Duplication | Aicardi-Goutieres syndrome 3 +1 more | |
| | | Copy number gain | MISSED ABORTION | |
| | | Copy number loss | not specified | |
| | | Deletion | Glycogen storage disease, type V +1 more | |
| | | Deletion | Intellectual disability | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | AAMDC, AASDHPPT +1289 more | Copy number gain | See cases | |