| | LOC130057816, LOC130057817 +1763 more | Copy number gain | See cases | |
| | LOC121530589, LOC121530590 +487 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | ADPGK, ADPGK-AS1 +204 more | Copy number gain | See cases | |
| | LOC130057525, LOC130057526 +205 more | Duplication | Schizophrenia | |
| | LOC110467517, LOC112272614 +202 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC130057507, LOC130057508 +236 more | Copy number loss | See cases | |
| | ADPGK, ADPGK-AS1 +243 more | Copy number loss | See cases | |
| | | Duplication | Schizophrenia | |
| | | Single nucleotide variant | Syndromic Microphthalmia, Recessive | |
| | | Single nucleotide variant (3 prime UTR variant) | Matthew-Wood syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Matthew-Wood syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Matthew-Wood syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Syndromic Microphthalmia, Recessive | |
| | | Single nucleotide variant (3 prime UTR variant) | Matthew-Wood syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Matthew-Wood syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Matthew-Wood syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Matthew-Wood syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Syndromic Microphthalmia, Recessive | |
| | | Single nucleotide variant (3 prime UTR variant) | Matthew-Wood syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Matthew-Wood syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Matthew-Wood syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Matthew-Wood syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Matthew-Wood syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Matthew-Wood syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Matthew-Wood syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Matthew-Wood syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | STRA6-related condition +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Matthew-Wood syndrome | |
| | | Single nucleotide variant (synonymous variant) | Matthew-Wood syndrome | |
| | | Single nucleotide variant (missense variant) | Matthew-Wood syndrome | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Matthew-Wood syndrome | |
| | | Single nucleotide variant (missense variant) | Matthew-Wood syndrome | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Matthew-Wood syndrome | |
| | | Single nucleotide variant (missense variant) | Matthew-Wood syndrome | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | Anophthalmia-microphthalmia syndrome | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Matthew-Wood syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | STRA6-related condition | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Matthew-Wood syndrome | |
| | | Single nucleotide variant (missense variant) | Matthew-Wood syndrome | |
| | | Single nucleotide variant (intron variant) | Matthew-Wood syndrome | |
| | | 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) | Matthew-Wood syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | STRA6-related condition | |
| | | Single nucleotide variant (synonymous variant) | Matthew-Wood syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Matthew-Wood syndrome | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Anophthalmia-microphthalmia syndrome | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (nonsense) | Microphthalmia | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Matthew-Wood syndrome | |
| | | Single nucleotide variant (synonymous variant) | Matthew-Wood syndrome | |
| | | Single nucleotide variant (intron variant) | STRA6-related condition +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Matthew-Wood syndrome | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Matthew-Wood syndrome | |
| | | Single nucleotide variant (synonymous variant) | Matthew-Wood syndrome | |
| | | Duplication (frameshift variant) | Matthew-Wood syndrome | |
| | | Single nucleotide variant (missense variant) | Matthew-Wood syndrome | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Matthew-Wood syndrome | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not specified +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Matthew-Wood syndrome | |
| | | Single nucleotide variant (nonsense) | Matthew-Wood syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Matthew-Wood syndrome +2 more | |
| | | Single nucleotide variant (synonymous variant) | Matthew-Wood syndrome | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Matthew-Wood syndrome | |
| | | Single nucleotide variant (splice acceptor variant) | Matthew-Wood syndrome | |
| | | 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 (intron variant) | Matthew-Wood syndrome | |
| | | Single nucleotide variant (missense variant) | Matthew-Wood syndrome | |
| | | Single nucleotide variant (missense variant) | Matthew-Wood syndrome | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | STRA6-related condition | |
| | | Single nucleotide variant (intron variant) | Matthew-Wood syndrome | |