| | LOC129931453, LOC129931454 +1585 more | Copy number gain | See cases | |
| | ADAMTSL4, ADAMTSL4-AS1 +37 more | Copy number gain | See cases | |
| | | Single nucleotide variant (5 prime UTR variant) | Ectopia lentis 2, isolated, autosomal recessive | |
| | | Single nucleotide variant (5 prime UTR variant) | Ectopia lentis 2, isolated, autosomal recessive | |
| | | Single nucleotide variant (5 prime UTR variant) | Ectopia lentis 2, isolated, autosomal recessive | |
| | | Duplication (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | ADAMTSL4, ADAMTSL4-AS2 +1 more | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | ADAMTSL4, ADAMTSL4-AS2 (E2D) | Single nucleotide variant (missense variant) | not provided | |
| | ADAMTSL4, ADAMTSL4-AS2 (N3K) | Single nucleotide variant (missense variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | ADAMTSL4, ADAMTSL4-AS2 (W9*) | Single nucleotide variant (nonsense) | not provided | |
| | ADAMTSL4, ADAMTSL4-AS2 (W9S) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | ADAMTSL4, ADAMTSL4-AS2 (P19S) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | ADAMTSL4, ADAMTSL4-AS2 (E26fs) | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Deletion (intron variant +1 more) | not provided | |
| | | Single nucleotide variant (splice acceptor variant) | Ectopia lentis 2, isolated, autosomal recessive | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Ectopia lentis 2, isolated, autosomal recessive +1 more | GConflicting classifications of pathogenicity |
| | ADAMTSL4, ADAMTSL4-AS2 (G30R) | Single nucleotide variant (missense variant) | not provided +2 more | |
| | ADAMTSL4, ADAMTSL4-AS2 (S32T) | Single nucleotide variant (missense variant) | not provided | |
| | ADAMTSL4, ADAMTSL4-AS2 (L33fs) | Duplication (frameshift variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | ADAMTSL4, ADAMTSL4-AS2 (G42D) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | ADAMTSL4, ADAMTSL4-AS2 (E44K) | Single nucleotide variant (missense variant) | not provided +2 more | |
| | ADAMTSL4, ADAMTSL4-AS2 (E44G) | Single nucleotide variant (missense variant) | not provided | |
| | ADAMTSL4, ADAMTSL4-AS2 (G45D) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | ADAMTSL4, ADAMTSL4-AS2 (V46I) | Single nucleotide variant (missense variant) | not provided | |
| | ADAMTSL4, ADAMTSL4-AS2 (W47*) | Single nucleotide variant (nonsense) | not provided | |
| | ADAMTSL4, ADAMTSL4-AS2 (W53*) | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (synonymous variant) | ADAMTSL4-related disorder +2 more | GConflicting classifications of pathogenicity |
| | ADAMTSL4, ADAMTSL4-AS2 (Q58*) | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | ADAMTSL4, ADAMTSL4-AS2 (G61R) | Single nucleotide variant (missense variant) | not provided | |
| | ADAMTSL4, ADAMTSL4-AS2 (V62fs) | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | ADAMTSL4, ADAMTSL4-AS2 (V64M) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | ADAMTSL4, ADAMTSL4-AS2 (R66C) | Single nucleotide variant (missense variant) | not provided | |
| | ADAMTSL4, ADAMTSL4-AS2 (R66H) | Single nucleotide variant (missense variant) | not provided | |
| | ADAMTSL4, ADAMTSL4-AS2 (R69W) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | ADAMTSL4, ADAMTSL4-AS2 (L78F) | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | |
| | ADAMTSL4, ADAMTSL4-AS2 (H79Q) | Single nucleotide variant (missense variant) | not provided | |
| | ADAMTSL4, ADAMTSL4-AS2 (P80fs) | Deletion (frameshift variant) | Ectopia lentis 2, isolated, autosomal recessive | |
| | ADAMTSL4, ADAMTSL4-AS2 (P80L) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | ADAMTSL4, ADAMTSL4-AS2 (P83L) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | ADAMTSL4, ADAMTSL4-AS2 (L84P) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |