| | | Copy number gain | not specified | |
| | | Single nucleotide variant (missense variant) | ABO-related condition | |
| | | Single nucleotide variant (synonymous variant) | ABO-related condition | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Variation (no sequence alteration) | Not Specified | Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant |
| | | Deletion (frameshift variant) | Not Specified | Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant |
| | | Duplication (frameshift variant) | Not Specified | Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant |
| | | Single nucleotide variant (synonymous variant) | Not Specified | Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant |
| | | Duplication (frameshift variant +1 more) | Not Specified | Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant |
| | | Single nucleotide variant (missense variant +3 more) | Severely weakened expression of B on erythrocytes | |
| | | Single nucleotide variant (missense variant +2 more) | Severely weakened expression of B on erythrocytes | |
| | | Single nucleotide variant (missense variant +3 more) | Severely weakened expression of B on erythrocytes | |
| | | Single nucleotide variant (nonsense) | Severely weakened expression of A on erythrocytes | |
| | | Single nucleotide variant (nonsense) | Severely weakened expression of A on erythrocytes | |
| | | Duplication | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | |
| | | Duplication | Rafiq syndrome +4 more | |
| | | Single nucleotide variant (intron variant) | ABO blood group system | |
| | | Single nucleotide variant (missense variant) | Not Specified | Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant |
| | | Single nucleotide variant (synonymous variant) | Not Specified | Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant |
| | | Single nucleotide variant (missense variant) | Not Specified | Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant |
| | | Single nucleotide variant (synonymous variant) | Not Specified | Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant |
| | | Single nucleotide variant (missense variant) | Not Specified | Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant |
| | | Single nucleotide variant (synonymous variant) | Not Specified | Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant |
| | | Copy number gain | not specified | |
| | | Duplication (frameshift variant) | Not Specified | Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant |
| | | Single nucleotide variant (missense variant) | Not Specified | Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant |
| | | Deletion (frameshift variant +1 more) | ABO blood group system | |
| | | Duplication (frameshift variant) | Severely weakened expression of A on erythrocytes +1 more | |
| | | Single nucleotide variant (intron variant) | ABO blood group system | |
| | | Single nucleotide variant (intron variant) | ABO blood group system | |
| | | Single nucleotide variant (intron variant) | ABO blood group system | |
| | | Indel (intron variant) | ABO blood group system | |
| | | Duplication | Tuberous sclerosis 1 | |
| | | Duplication | Tuberous sclerosis 1 | |
| | | Copy number loss | not provided | |
| | | Single nucleotide variant (intron variant) | Three Vessel Coronary Disease | |
| | | Single nucleotide variant (missense variant) | Three Vessel Coronary Disease | |
| | | Single nucleotide variant (intron variant) | Three Vessel Coronary Disease | |
| | | Single nucleotide variant (intron variant) | Three Vessel Coronary Disease | |
| | | Single nucleotide variant (intron variant) | Three Vessel Coronary Disease | |
| | | Single nucleotide variant (intron variant) | Three Vessel Coronary Disease | |
| | | Variation (intron variant) | Three Vessel Coronary Disease | |
| | | Single nucleotide variant (intron variant) | Three Vessel Coronary Disease | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Variation (no sequence alteration) | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Duplication | Ehlers-Danlos syndrome, classic type | |
| | | Copy number gain | not provided | |
| | | Copy number gain | Hypotonia +2 more | |
| | | Copy number loss | mTOR Inhibitor response | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | ANGPTL2, ANKRD18A +771 more | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant) | Not Specified | Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant |
| | | Single nucleotide variant (missense variant) | Three Vessel Coronary Disease | |
| | LOC126860768, LOC126860769 +3785 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130003086, LOC130003087 +530 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC124310660, LOC124310661 +3784 more | Copy number gain | See cases | |
| | LOC111413024, LOC111413033 +3785 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | MIR3621, MIR3689A +789 more | Copy number gain | See cases | |
| | LOC126860765, LOC126860766 +3785 more | Copy number gain | See cases | |
| | LOC112637025, LOC112639999 +656 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130002603, LOC130002604 +1210 more | Copy number gain | See cases | |
| | LOC130003073, LOC130003074 +1268 more | Copy number gain | See cases | |
| | LOC116216098, LOC116216099 +3785 more | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant) | ABO blood group system | |
| | | Single nucleotide variant (missense variant) | ABO blood group system | |
| | | Deletion (frameshift variant) | ABO blood group system | |
| | | Single nucleotide variant (missense variant +1 more) | ABO blood group system | |
| | | Deletion (frameshift variant) | not provided | |