| | | Inversion | Bilateral polymicrogyria | |
| | LOC129388541, LOC129388542 +570 more | Copy number gain | See cases | |
| | LOC129930559, LOC129930560 +422 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC120893139, LOC122056889 +4 more | Deletion | Small for gestational age | |
| | | Single nucleotide variant | Corneal Dystrophy, Dominant/Recessive | |
| | | Single nucleotide variant (3 prime UTR variant) | Lattice corneal dystrophy Type III | |
| | | Duplication (3 prime UTR variant) | Corneal Dystrophy, Dominant/Recessive | |
| | | Single nucleotide variant (3 prime UTR variant) | Lattice corneal dystrophy Type III | |
| | | Single nucleotide variant (3 prime UTR variant) | Lattice corneal dystrophy Type III | |
| | | Single nucleotide variant (3 prime UTR variant) | Lattice corneal dystrophy Type III | |
| | | Single nucleotide variant (3 prime UTR variant) | Lattice corneal dystrophy Type III | |
| | | Single nucleotide variant (3 prime UTR variant) | Lattice corneal dystrophy Type III | |
| | | Single nucleotide variant (3 prime UTR variant) | Lattice corneal dystrophy Type III | |
| | | Single nucleotide variant (3 prime UTR variant) | Lattice corneal dystrophy Type III | |
| | | Single nucleotide variant (3 prime UTR variant) | Lattice corneal dystrophy Type III | |
| | | Single nucleotide variant (3 prime UTR variant) | Lattice corneal dystrophy Type III | |
| | | Single nucleotide variant (3 prime UTR variant) | Lattice corneal dystrophy Type III | |
| | | Single nucleotide variant (3 prime UTR variant) | Lattice corneal dystrophy Type III | |
| | | Single nucleotide variant (3 prime UTR variant) | Lattice corneal dystrophy Type III | |
| | | Single nucleotide variant (3 prime UTR variant) | Lattice corneal dystrophy Type III | |
| | | Single nucleotide variant (3 prime UTR variant) | Lattice corneal dystrophy Type III | |
| | | Single nucleotide variant (3 prime UTR variant) | Lattice corneal dystrophy Type III | |
| | | Single nucleotide variant (3 prime UTR variant) | Lattice corneal dystrophy Type III | |
| | | Single nucleotide variant (3 prime UTR variant) | Lattice corneal dystrophy Type III | |
| | | Single nucleotide variant (3 prime UTR variant) | Lattice corneal dystrophy Type III | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Indel (nonsense) | Lattice corneal dystrophy Type III | |
| | | Single nucleotide variant (synonymous variant) | Lattice corneal dystrophy Type III | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Lattice corneal dystrophy Type III | |
| | | Deletion (frameshift variant) | Lattice corneal dystrophy Type III | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Deletion (frameshift variant) | Lattice corneal dystrophy Type III | |
| | | Single nucleotide variant (nonsense) | Lattice corneal dystrophy Type III | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Lattice corneal dystrophy Type III | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (nonsense) | Lattice corneal dystrophy Type III | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | TACSTD2-related condition +1 more | |
| | | Single nucleotide variant (missense variant) | Lattice corneal dystrophy Type III | |
| | | Single nucleotide variant (nonsense) | Lattice corneal dystrophy Type III | |
| | | Single nucleotide variant (synonymous variant) | TACSTD2-related condition | |
| | | Single nucleotide variant (missense variant) | Lattice corneal dystrophy Type III +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Lattice corneal dystrophy Type III +1 more | |
| | | Deletion (inframe_deletion) | Lattice corneal dystrophy Type III | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | TACSTD2-related condition | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Lattice corneal dystrophy Type III | |
| | | Single nucleotide variant (missense variant +1 more) | Lattice corneal dystrophy Type III | |
| | | Single nucleotide variant (5 prime UTR variant) | Lattice corneal dystrophy Type III | |
| | | Single nucleotide variant (5 prime UTR variant) | Lattice corneal dystrophy Type III | |
| | | Single nucleotide variant (5 prime UTR variant) | Lattice corneal dystrophy Type III | |
| | | Single nucleotide variant (5 prime UTR variant) | Lattice corneal dystrophy Type III | |
| | | Single nucleotide variant | Lattice corneal dystrophy Type III | |
| | | Single nucleotide variant | Lattice corneal dystrophy Type III | |
| | | Single nucleotide variant | Lattice corneal dystrophy Type III | |
| | | Single nucleotide variant | Lattice corneal dystrophy Type III | |
| | | Single nucleotide variant | Lattice corneal dystrophy Type III | |
| | | Single nucleotide variant | Lattice corneal dystrophy Type III | |
| | | Single nucleotide variant | Lattice corneal dystrophy Type III | |
| | | Single nucleotide variant | Lattice corneal dystrophy Type III | |
| | | Copy number loss | Chromosome 1p32-p31 deletion syndrome | |
| | | Copy number gain | See cases | |
| | ANGPTL7, C1orf127 +783 more | Copy number gain | Intellectual disability, mild +1 more | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |