| | LCA5L, LINC00111 +1159 more | Copy number gain | See cases | |
| | LOC126653353, LOC126653354 +1160 more | Copy number gain | See cases | |
| | KRTAP8-1, LCA5L +1160 more | Copy number gain | See cases | |
| | RNA5-8SN1, RNA5-8SN2 +1160 more | Copy number gain | See cases | |
| | LOC130066804, LOC130066805 +1160 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126653353, LOC126653354 +1159 more | Copy number gain | See cases | |
| | LOC129388418, LOC129391214 +1160 more | Copy number gain | See cases | |
| | KCNJ6, KCNJ6-AS1 +643 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LINC00515, LINC00649 +1159 more | Copy number gain | See cases | |
| | LOC130066731, LOC130066732 +1159 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | ETS2-AS1, EVA1C +1157 more | Copy number gain | See cases | |
| | LOC130066726, LOC130066727 +1159 more | Copy number gain | See cases | |
| | LOC128849172, LOC129388418 +884 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LINC01425, LINC01426 +1157 more | Copy number gain | See cases | |
| | LOC130066861, LOC130066862 +1155 more | Copy number gain | See cases | |
| | LOC130066468, LOC130066469 +1155 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC112694754, LOC114004360 +1159 more | Copy number gain | See cases | |
| | LOC130066795, LOC130066796 +1156 more | Copy number loss | See cases | |
| | LOC125418053, LOC125418054 +219 more | Copy number loss | Monosomy 21 | |
| | ADAMTS1, ADAMTS5 +256 more | Copy number loss | See cases | |
| | ADAMTS1, ADAMTS5 +214 more | Copy number loss | See cases | |
| | | Copy number loss | Monosomy 21 | |
| | ADAMTS1, ADAMTS5 +300 more | Copy number loss | See cases | |
| | LOC130066520, LOC130066521 +213 more | Copy number loss | See cases | |
| | BACH1, BACH1-IT2 +215 more | Copy number loss | Monosomy 21 | |
| | | Copy number loss | See cases | |
| | | Duplication | Alzheimer disease, early-onset, with cerebral amyloid angiopathy | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Basal ganglia calcification, idiopathic, 8, autosomal recessive | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Deletion (nonsense +2 more) | Basal ganglia calcification, idiopathic, 8, autosomal recessive | |
| | | Deletion (frameshift variant +2 more) | Basal ganglia calcification, idiopathic, 8, autosomal recessive | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Basal ganglia calcification, idiopathic, 8, autosomal recessive | |
| | | Duplication (splice acceptor variant) | Basal ganglia calcification, idiopathic, 8, autosomal recessive | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Basal ganglia calcification, idiopathic, 8, autosomal recessive | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (nonsense +1 more) | JAM2-related disorder +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Insertion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | ADAMTS1, MIR125B2 +23 more | Copy number gain | See cases | |
| | | Copy number gain | Down syndrome | |
| | ADAMTS1, ADAMTS5 +216 more | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |