| | LOC126860438, LOC126860439 +3663 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC105379224, LOC105379230 +3657 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129999966, LOC129999967 +3111 more | Copy number gain | See cases | |
| | LOC126860489, LOC126860490 +1963 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126860535, LOC126860536 +1687 more | Copy number gain | See cases | |
| | LOC105375713, LOC105375742 +1553 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130001109, LOC130001110 +1532 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130001226, LOC130001227 +1407 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) | 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) | not provided +1 more | |
| | | 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 | |
| | | 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) | not provided +1 more | |
| | | 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) | 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 (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) | 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) | not provided +1 more | |
| | | 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 +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 | |
| | | 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) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +1 more | |
| | | Insertion (3 prime UTR variant) | not provided | |
| | | Insertion (3 prime UTR variant) | not provided | |
| | | Insertion (3 prime UTR variant) | Klippel-Feil syndrome +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) | 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) | not provided +1 more | |
| | | 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) | Isolated microphthalmia 4 +3 more | |
| | | Single nucleotide variant (missense variant) | Klippel-Feil syndrome 1, autosomal dominant +3 more | |
| | | Single nucleotide variant (missense variant) | Klippel-Feil syndrome 1, autosomal dominant +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) | Isolated microphthalmia 4 +3 more | |
| | | Single nucleotide variant (missense variant) | Isolated microphthalmia 4 +3 more | |
| | | Single nucleotide variant (missense variant) | Multiple synostoses syndrome 4 | |
| | | Single nucleotide variant (missense 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) | Microphthalmia, isolated, with coloboma 6 +3 more | |
| | | Single nucleotide variant (missense variant) | Klippel-Feil syndrome 1, autosomal dominant +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Isolated microphthalmia 4 +3 more | |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 17 +3 more | |
| | | Single nucleotide variant (synonymous variant) | Microphthalmia, isolated, with coloboma 6 +3 more | |
| | | Single nucleotide variant (missense variant) | Multiple synostoses syndrome 4 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Microphthalmia, isolated, with coloboma 6 +3 more | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 17 +4 more | GConflicting classifications of pathogenicity |