| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | ADAMTS18, LOC126862407 (R1146Q +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | ADAMTS18, LOC126862407 (G969R +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | ADAMTS18, LOC126862407 (V971F +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | ADAMTS18, LOC126862407 (N1173I +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | ADAMTS18, LOC126862407 (P1167R +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | ADAMTS18, LOC126862407 (R998* +1 more) | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | ADAMTS18, LOC126862407 (E1181K +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (splice donor variant) | not provided | |
| | ADAMTS18, LOC126862407 (V1143fs +1 more) | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | ADAMTS18, LOC126862407 (A1007fs +1 more) | Indel (frameshift variant) | not provided | |
| | ADAMTS18, LOC126862407 (V1151I +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | ADAMTS18, LOC126862407 (R1155Q +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | ADAMTS18, LOC126862407 (R998Q +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | ADAMTS18, LOC126862407 +2 more | Deletion | Microcornea-myopic chorioretinal atrophy | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | ADAMTS18, LOC126862407 (A1171D +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | ADAMTS18, LOC126862407 (P1167S +1 more) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | ADAMTS18, LOC126862407 (E1012Q +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | ADAMTS18, LOC126862407 (G968W +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | ADAMTS18, LOC126862407 (G1140R +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | LOC126862407, ADAMTS18 (L1161V +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | ADAMTS18, LOC126862407 (S1159T +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | ADAMTS18, LOC126862407 (Q1152* +1 more) | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (splice acceptor variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | ADAMTS18, LOC126862407 (S1157P +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | ADAMTS18, LOC126862407 (P995L +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | ADAMTS18, LOC126862407 (S1159N +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | ADAMTS18, LOC126862407 (A1007D +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | LOC126862407, ADAMTS18 (P1156S +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | ADAMTS18, LOC126862407 (Q1144E +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | ADAMTS18, LOC126862407 (G1140R +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | LOC126862407, ADAMTS18 (S1158* +1 more) | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | ADAMTS18, LOC126862407 (G1140V +1 more) | Single nucleotide variant (missense variant) | Leber congenital amaurosis | |
| | ADAMTS18, LOC126862407 (R1155W +1 more) | Single nucleotide variant (missense variant) | Leber congenital amaurosis +1 more | |
| | | Copy number gain | See cases | |
| | LOC130059466, LOC130059467 +1738 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 | |
| | LOC400553, LOC654780 +832 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC128772417, LOC128772418 +939 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC100129617, LOC100506281 +591 more | Copy number loss | See cases | |
| | ADAMTS18, LINC02131 +25 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LINC01081, LINC01082 +781 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130059153, LOC130059154 +1426 more | Copy number gain | See cases | |