| | LOC129931453, LOC129931454 +1585 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | ADAMTS4, ALDH9A1 +371 more | Copy number loss | See cases | |
| | LOC129931764, LY9 +63 more | Duplication | Paragangliomas 3 +1 more | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (stop lost) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | Apolipoprotein A-II deficiency | |
| | | Single nucleotide variant (missense variant) | Apolipoprotein A-II deficiency +1 more | |
| | | Single nucleotide variant (intron variant) | Apolipoprotein A-II deficiency +1 more | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (splice donor variant) | APOLIPOPROTEIN A-II DEFICIENCY, FAMILIAL, DUE TO APOA-II (HIROSHIMA) | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Apolipoprotein A-II deficiency +1 more | |
| | | Deletion (intron variant) | not specified | |
| | | Microsatellite (intron variant) | not specified | |
| | | Microsatellite (intron variant) | not specified +1 more | |
| | | Microsatellite (intron variant) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (intron variant) | APOA2-related disorder | |
| | | Microsatellite (intron variant) | APOA2-related disorder +1 more | |
| | | Microsatellite (intron variant) | not specified +1 more | |
| | | Microsatellite (intron variant) | not specified | |
| | | Microsatellite (intron variant) | not specified | |
| | | Microsatellite (intron variant) | APOA2-related disorder +2 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (intron variant) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | Apolipoprotein A-II deficiency | |
| | | Single nucleotide variant (5 prime UTR variant) | Apolipoprotein A-II deficiency | |
| | | Single nucleotide variant | Hypercholesterolemia, familial, 1 | |
| | | Copy number loss | not provided | |
| | | Duplication | not provided | |
| | | Copy number loss | not specified | |
| | | Duplication | Autoimmune interstitial lung disease-arthritis syndrome | |
| | | Copy number gain | not provided | |
| | | Duplication | Parathyroid carcinoma +2 more | |
| | | Duplication | Paragangliomas 3 +1 more | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |