| | LOC129996786, LOC129996787 +1449 more | Copy number gain | See cases | |
| | LOC129997450, LOC129997451 +1002 more | Copy number gain | See cases | |
| | | Deletion | Autoinflammatory syndrome, familial, Behcet-like | |
| | LOC129389692, LOC129389693 +614 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Microsatellite (inframe_insertion) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not specified | |
| | | Single nucleotide variant (nonsense) | Atrial septal defect 8 | |
| | | Single nucleotide variant (missense variant) | Atrial septal defect 8 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Deletion (inframe_deletion) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Microsatellite (inframe_deletion) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Deletion (inframe_deletion) | CITED2-related condition +1 more | |
| | CITED2, LOC129997307 (S192G +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | CITED2, LOC129997307 (G188S +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Duplication (inframe_insertion) | CITED2-related condition | |
| | CITED2, LOC129997307 (S181T +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Duplication (inframe insertion) | CITED2-related condition | |
| | | Deletion (inframe_deletion) | Ventricular septal defect 2 | |
| | CITED2, LOC129997307 (T175I +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | CITED2, LOC129997307 (S165R +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | CITED2-related condition +1 more | |
| | | Single nucleotide variant (missense variant) | CITED2-related condition | |
| | | Deletion (inframe_deletion) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Ventricular septal defect 2 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Single nucleotide variant (missense 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 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | CITED2, LOC129997308 (A70S +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | CITED2, LOC129997308 (I61V +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Microsatellite (inframe_deletion) | Atrial septal defect 8 | |
| | | Microsatellite (inframe_deletion) | CITED2-related condition +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | CITED2-related condition | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | 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 +1 more) | CITED2-related condition | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | CITED2-related condition | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | 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 | |
| | | Insertion | Atrial septal defect 8 | |