| | LOC126860768, LOC126860769 +3785 more | 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 | |
| | LOC116216098, LOC116216099 +3785 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126860765, LOC126860766 +3785 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130003073, LOC130003074 +1268 more | Copy number gain | See cases | |
| | LOC130002603, LOC130002604 +1210 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC130002656, LOC130002657 +93 more | Duplication | Congenital muscular dystrophy with intellectual disability and severe epilepsy | |
| | LOC130002653, LOC130002654 +130 more | Deletion | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | AK1, ST6GALNAC4-ST6GALNAC6-AK1 (V179L +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Hemolytic anemia due to adenylate kinase deficiency | |
| | AK1, ST6GALNAC4-ST6GALNAC6-AK1 (G177D +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Hemolytic anemia due to adenylate kinase deficiency | |
| | ST6GALNAC4-ST6GALNAC6-AK1, AK1 (G177V +1 more) | Single nucleotide variant (missense variant) | Hemolytic anemia due to adenylate kinase deficiency | |
| | AK1, ST6GALNAC4-ST6GALNAC6-AK1 | Single nucleotide variant (synonymous variant) | Hemolytic anemia due to adenylate kinase deficiency | |
| | AK1, ST6GALNAC4-ST6GALNAC6-AK1 | Single nucleotide variant (intron variant) | not provided +1 more | |
| | AK1, ST6GALNAC4-ST6GALNAC6-AK1 | Single nucleotide variant (intron variant) | not provided | |
| | AK1, ST6GALNAC4-ST6GALNAC6-AK1 | Single nucleotide variant (intron variant) | Hemolytic anemia due to adenylate kinase deficiency +1 more | |
| | AK1, ST6GALNAC4-ST6GALNAC6-AK1 | Single nucleotide variant (intron variant) | not provided +1 more | |
| | AK1, ST6GALNAC4-ST6GALNAC6-AK1 (R187C +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | AK1, ST6GALNAC4-ST6GALNAC6-AK1 (I185T +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | AK1, ST6GALNAC4-ST6GALNAC6-AK1 (Y164C +1 more) | Single nucleotide variant (missense variant) | Hemolytic anemia due to adenylate kinase deficiency | |
| | AK1, ST6GALNAC4-ST6GALNAC6-AK1 (A162T +1 more) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | AK1, ST6GALNAC4-ST6GALNAC6-AK1 | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | AK1, ST6GALNAC4-ST6GALNAC6-AK1 | Single nucleotide variant (no sequence alteration +1 more) | not provided +1 more | |
| | AK1, ST6GALNAC4-ST6GALNAC6-AK1 | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | AK1, ST6GALNAC4-ST6GALNAC6-AK1 (D141del +1 more) | Microsatellite (inframe_deletion) | Hemolytic anemia due to adenylate kinase deficiency | |
| | AK1, ST6GALNAC4-ST6GALNAC6-AK1 (R154C +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | AK1, ST6GALNAC4-ST6GALNAC6-AK1 (G137R +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Hemolytic anemia due to adenylate kinase deficiency +1 more | |
| | AK1, ST6GALNAC4-ST6GALNAC6-AK1 | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | AK1, ST6GALNAC4-ST6GALNAC6-AK1 (R132H +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | AK1, ST6GALNAC4-ST6GALNAC6-AK1 (R128W +1 more) | Single nucleotide variant (missense variant) | Hemolytic anemia due to adenylate kinase deficiency | |
| | AK1, ST6GALNAC4-ST6GALNAC6-AK1 (E123Q +1 more) | Single nucleotide variant (missense variant) | not specified +2 more | |
| | AK1, ST6GALNAC4-ST6GALNAC6-AK1 | Single nucleotide variant (intron variant) | not provided +1 more | |
| | AK1, ST6GALNAC4-ST6GALNAC6-AK1 | Single nucleotide variant (intron variant) | not provided | |
| | AK1, ST6GALNAC4-ST6GALNAC6-AK1 | Single nucleotide variant (intron variant) | not provided | |
| | AK1, ST6GALNAC4-ST6GALNAC6-AK1 (R107* +1 more) | Single nucleotide variant (nonsense) | Hemolytic anemia due to adenylate kinase deficiency | |
| | AK1, ST6GALNAC4-ST6GALNAC6-AK1 | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | AK1, ST6GALNAC4-ST6GALNAC6-AK1 (Q101K +1 more) | Single nucleotide variant (missense variant) | Adenylate kinase deficiency | |
| | AK1, ST6GALNAC4-ST6GALNAC6-AK1 | Single nucleotide variant (synonymous variant) | not provided | |
| | AK1, ST6GALNAC4-ST6GALNAC6-AK1 (G89V +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | AK1, ST6GALNAC4-ST6GALNAC6-AK1 (N101S +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Hemolytic anemia due to adenylate kinase deficiency | |
| | AK1, ST6GALNAC4-ST6GALNAC6-AK1 | Single nucleotide variant (synonymous variant) | not provided | |
| | AK1, ST6GALNAC4-ST6GALNAC6-AK1 (M80V +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Hemolytic anemia due to adenylate kinase deficiency | |
| | AK1, ST6GALNAC4-ST6GALNAC6-AK1 | Single nucleotide variant (synonymous variant) | not provided | |
| | AK1, ST6GALNAC4-ST6GALNAC6-AK1 (R77W +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Hemolytic anemia due to adenylate kinase deficiency | |
| | AK1, ST6GALNAC4-ST6GALNAC6-AK1 | Single nucleotide variant (intron variant) | not provided | |
| | AK1, ST6GALNAC4-ST6GALNAC6-AK1 (V83F +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | AK1, ST6GALNAC4-ST6GALNAC6-AK1 (G64R +1 more) | Single nucleotide variant (missense variant) | Hemolytic anemia due to adenylate kinase deficiency | |
| | AK1, ST6GALNAC4-ST6GALNAC6-AK1 | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | AK1, ST6GALNAC4-ST6GALNAC6-AK1 (G70V +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | AK1, ST6GALNAC4-ST6GALNAC6-AK1 (R53K +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Hemolytic anemia due to adenylate kinase deficiency | |
| | AK1, ST6GALNAC4-ST6GALNAC6-AK1 | Single nucleotide variant (non-coding transcript variant +1 more) | Hemolytic anemia due to adenylate kinase deficiency +1 more | |
| | AK1, ST6GALNAC4-ST6GALNAC6-AK1 (G50N +1 more) | Indel (non-coding transcript variant +1 more) | not provided +1 more | |
| | AK1, ST6GALNAC4-ST6GALNAC6-AK1 (G50S +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | AK1, ST6GALNAC4-ST6GALNAC6-AK1 (V47fs +1 more) | Deletion (frameshift variant) | Hemolytic anemia due to adenylate kinase deficiency | |
| | AK1, ST6GALNAC4-ST6GALNAC6-AK1 (G40R +1 more) | Single nucleotide variant (missense variant) | Hemolytic anemia due to adenylate kinase deficiency | |
| | AK1, ST6GALNAC4-ST6GALNAC6-AK1 | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | ST6GALNAC4-ST6GALNAC6-AK1, AK1 (Q30H +1 more) | Single nucleotide variant (missense variant) | Hemolytic anemia due to adenylate kinase deficiency | |
| | AK1, ST6GALNAC4-ST6GALNAC6-AK1 (V29M +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | AK1, ST6GALNAC4-ST6GALNAC6-AK1 (E26D +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Hemolytic anemia due to adenylate kinase deficiency | |
| | AK1, ST6GALNAC4-ST6GALNAC6-AK1 (S19A +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Hemolytic anemia due to adenylate kinase deficiency +1 more | |
| | AK1, ST6GALNAC4-ST6GALNAC6-AK1 | Single nucleotide variant (intron variant) | not provided +1 more | |
| | AK1, ST6GALNAC4-ST6GALNAC6-AK1 | Single nucleotide variant (intron variant) | not provided | |
| | AK1, ST6GALNAC4-ST6GALNAC6-AK1 | Single nucleotide variant (intron variant) | not provided | |
| | AK1, ST6GALNAC4-ST6GALNAC6-AK1 | Single nucleotide variant (intron variant) | not provided | |
| | AK1, ST6GALNAC4-ST6GALNAC6-AK1 | Single nucleotide variant (intron variant) | not provided | |
| | AK1, ST6GALNAC4-ST6GALNAC6-AK1 | Single nucleotide variant (intron variant) | Hemolytic anemia due to adenylate kinase deficiency | |
| | AK1, ST6GALNAC4-ST6GALNAC6-AK1 | Single nucleotide variant (synonymous variant +1 more) | Hemolytic anemia due to adenylate kinase deficiency | |
| | | Copy number loss | See cases | |
| | AK1, ST6GALNAC4-ST6GALNAC6-AK1 | Single nucleotide variant (intron variant) | not provided | |
| | AK1, ST6GALNAC4-ST6GALNAC6-AK1 | Deletion (intron variant) | not provided | |
| | | Copy number gain | not specified | |
| | | Copy number gain | See cases | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Deletion | Congenital muscular dystrophy with intellectual disability and severe epilepsy | |
| | | Copy number gain | not provided | |
| | | Deletion | Hereditary hemorrhagic telangiectasia | |
| | | Deletion | Early infantile epileptic encephalopathy with suppression bursts | |
| | | Copy number loss | Infantile epilepsy syndrome | |
| | | Copy number loss | Developmental and epileptic encephalopathy, 4 +1 more | |
| | | Deletion | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | Hypotonia +2 more | |
| | | 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 | |