| | ADAMTSL4, ADAMTSL4-AS2 (Y500C +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | ADAMTSL4, ADAMTSL4-AS2 (A348G) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | ADAMTSL4, ADAMTSL4-AS2 (T553fs +1 more) | Deletion (non-coding transcript variant +1 more) | Ectopia lentis 2, isolated, autosomal recessive | |
| | | Deletion | not provided | |
| | | Deletion | not provided | |
| | ADAMTSL4, ADAMTSL4-AS2 (R559C +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | ADAMTSL4, ADAMTSL4-AS2 (P284S) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | ADAMTSL4, ADAMTSL4-AS2 (P226T) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | ADAMTSL4, ADAMTSL4-AS2 (R189S) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | ADAMTSL4, ADAMTSL4-AS2 (R119Q) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | ADAMTSL4, ADAMTSL4-AS2 (R655G +2 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | ADAMTSL4, ADAMTSL4-AS2 (N590Y +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | ADAMTSL4, ADAMTSL4-AS2 (V565M +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | ADAMTSL4, ADAMTSL4-AS2 (S521G +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | ADAMTSL4, ADAMTSL4-AS2 (R455C +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | ADAMTSL4, ADAMTSL4-AS2 (G45D) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | ADAMTSL4, ADAMTSL4-AS2 (R448C +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | ADAMTSL4, ADAMTSL4-AS2 (Q596* +1 more) | Single nucleotide variant (nonsense) | Isolated ectopia lentis | |
| | | Single nucleotide variant (synonymous variant) | ADAMTSL4-related disorder | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | ADAMTSL4-related disorder | |
| | ADAMTSL4, ADAMTSL4-AS2 (R418H) | Single nucleotide variant (non-coding transcript variant +2 more) | ADAMTSL4-related disorder | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | ADAMTSL4, ADAMTSL4-AS2 (Y159*) | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Duplication (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 (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Deletion (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 | |
| | | 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 (synonymous variant) | not provided | |
| | ADAMTSL4, ADAMTSL4-AS2 (W352*) | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | 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 (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Deletion (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 (A516S +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Deletion (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 | |
| | | Single nucleotide variant (intron 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 (synonymous variant) | not provided | |
| | ADAMTSL4, ADAMTSL4-AS2 (V615fs +1 more) | Deletion (frameshift variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | ADAMTSL4, ADAMTSL4-AS2 (P381fs) | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Microsatellite (nonsense) | 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 (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | ADAMTSL4, ADAMTSL4-AS2 (R87W) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (intron 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 (R90fs) | Deletion (frameshift 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 (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 | |