| | LOC130000015, LOC130000016 +3658 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC110121192, LOC110121196 +3656 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130000067, LOC130000068 +3656 more | Copy number gain | See cases | |
| | GPAT4, GPAT4-AS1 +3106 more | Copy number gain | See cases | |
| | LOC130000897, LOC130000898 +1960 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130000867, LOC130000868 +1686 more | Copy number gain | See cases | |
| | LOC130001282, LOC130001283 +1552 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130000908, LOC130000909 +1406 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant | Klippel-Feil syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Klippel-Feil syndrome 1, autosomal dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Klippel-Feil syndrome 1, autosomal dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Klippel-Feil syndrome 1, autosomal dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Klippel-Feil syndrome 1, autosomal dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Klippel-Feil syndrome 1, autosomal dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Klippel-Feil syndrome 1, autosomal dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Klippel-Feil syndrome 1, autosomal dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Klippel-Feil syndrome 1, autosomal dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Klippel-Feil syndrome 1, autosomal dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Klippel-Feil syndrome 1, autosomal dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Klippel-Feil syndrome 1, autosomal dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Klippel-Feil syndrome 1, autosomal dominant | |
| | | Deletion (3 prime UTR variant) | Klippel-Feil syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Klippel-Feil syndrome 1, autosomal dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Klippel-Feil syndrome 1, autosomal dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Klippel-Feil syndrome 1, autosomal dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Klippel-Feil syndrome 1, autosomal dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Klippel-Feil syndrome 1, autosomal dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Klippel-Feil syndrome 1, autosomal dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Klippel-Feil syndrome 1, autosomal dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Klippel-Feil syndrome 1, autosomal dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Klippel-Feil syndrome 1, autosomal dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Klippel-Feil syndrome 1, autosomal dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Klippel-Feil syndrome 1, autosomal dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Klippel-Feil syndrome 1, autosomal dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Klippel-Feil syndrome 1, autosomal dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Klippel-Feil syndrome 1, autosomal dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Klippel-Feil syndrome 1, autosomal dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Klippel-Feil syndrome 1, autosomal dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Klippel-Feil syndrome 1, autosomal dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Klippel-Feil syndrome 1, autosomal dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Klippel-Feil syndrome 1, autosomal dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Klippel-Feil syndrome 1, autosomal dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Klippel-Feil syndrome 1, autosomal dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Klippel-Feil syndrome 1, autosomal dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Klippel-Feil syndrome 1, autosomal dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Klippel-Feil syndrome 1, autosomal dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Klippel-Feil syndrome 1, autosomal dominant | |
| | | Insertion (3 prime UTR variant) | Klippel-Feil syndrome | |
| | | Deletion (3 prime UTR variant) | Klippel-Feil syndrome | |
| | | Insertion (3 prime UTR variant) | Klippel-Feil syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Klippel-Feil syndrome 1, autosomal dominant | |
| | | Microsatellite (3 prime UTR variant) | Klippel-Feil syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Klippel-Feil syndrome 1, autosomal dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Klippel-Feil syndrome 1, autosomal dominant | |
| | | Deletion (3 prime UTR variant) | Klippel-Feil syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Klippel-Feil syndrome 1, autosomal dominant | |
| | | Indel (3 prime UTR variant) | Klippel-Feil syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Klippel-Feil syndrome 1, autosomal dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Klippel-Feil syndrome 1, autosomal dominant | |
| | | Insertion (3 prime UTR variant) | not provided | |
| | | Insertion (3 prime UTR variant) | not provided | |
| | | Insertion (3 prime UTR variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Insertion (3 prime UTR variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Klippel-Feil syndrome 1, autosomal dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Klippel-Feil syndrome 1, autosomal dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Klippel-Feil syndrome 1, autosomal dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Klippel-Feil syndrome 1, autosomal dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Klippel-Feil syndrome 1, autosomal dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Klippel-Feil syndrome 1, autosomal dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Klippel-Feil syndrome 1, autosomal dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Klippel-Feil syndrome 1, autosomal dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Klippel-Feil syndrome 1, autosomal dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Klippel-Feil syndrome 1, autosomal dominant | |
| | | Single nucleotide variant (synonymous variant) | Klippel-Feil syndrome 1, autosomal dominant +3 more | |
| | | Single nucleotide variant (missense variant) | Isolated microphthalmia 4 +3 more | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 17 +3 more | |
| | | Single nucleotide variant (synonymous variant) | Isolated microphthalmia 4 +3 more | |
| | | Single nucleotide variant (missense variant) | Klippel-Feil syndrome 1, autosomal dominant | |
| | | Single nucleotide variant (synonymous variant) | Klippel-Feil syndrome 1, autosomal dominant +3 more | |
| | | Single nucleotide variant (missense variant) | Microphthalmia, isolated, with coloboma 6 +3 more | |
| | | Single nucleotide variant (missense variant) | Multiple synostoses syndrome 4 | |
| | | Single nucleotide variant (missense variant) | Microphthalmia, isolated, with coloboma 6 +3 more | |
| | | Single nucleotide variant (missense variant) | Isolated microphthalmia 4 +3 more | |
| | | Single nucleotide variant (missense variant) | Isolated microphthalmia 4 +3 more | |
| | | Single nucleotide variant (missense variant) | Klippel-Feil syndrome 1, autosomal dominant +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | GDF6-related condition +4 more | |
| | | Single nucleotide variant (synonymous variant) | Microphthalmia, isolated, with coloboma 6 +3 more | |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 17 +3 more | |
| | | Single nucleotide variant (missense variant) | Multiple synostoses syndrome 4 | |
| | | Single nucleotide variant (missense variant) | Microphthalmia, isolated, with coloboma 6 +3 more | |
| | | Single nucleotide variant (missense variant) | Microphthalmia, isolated, with coloboma 6 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Klippel-Feil syndrome 1, autosomal dominant +3 more | |