| | 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 | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130000722, LOC130000723 +470 more | Copy number gain | See cases | |
| | ARFGEF1, ARFGEF1-DT +245 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | EYA1, LOC130000578 +4 more | Copy number loss | See cases | |
| | | Deletion | Rare genetic deafness | |
| | | Single nucleotide variant | Otofaciocervical syndrome 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Branchiootic syndrome 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Branchiootic syndrome 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Branchiootic syndrome 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Branchiootic syndrome 1 +1 more | |
| | | Microsatellite (3 prime UTR variant) | Branchiootorenal Spectrum Disorders +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Otofaciocervical syndrome 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Otofaciocervical syndrome 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Otofaciocervical syndrome 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Otofaciocervical syndrome 1 +1 more | |
| | | Duplication (3 prime UTR variant) | Branchiootorenal Spectrum Disorders +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Branchiootic syndrome 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Branchiootic syndrome 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Otofaciocervical syndrome 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Otofaciocervical syndrome 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Branchiootic syndrome 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Branchiootic syndrome 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Otofaciocervical syndrome 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Branchiootic syndrome 1 +1 more | |
| | | Microsatellite (3 prime UTR variant) | Branchiootorenal Spectrum Disorders +1 more | |
| | | Duplication (3 prime UTR variant) | Branchiootorenal Spectrum Disorders +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Otofaciocervical syndrome 1 +1 more | |
| | | Duplication (3 prime UTR variant) | Branchiootorenal Spectrum Disorders +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Branchiootic syndrome 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Branchiootic syndrome 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Branchiootic syndrome 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Branchiootic syndrome 1 +1 more | |
| | | Duplication (3 prime UTR variant) | Branchiootorenal Spectrum Disorders +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Otofaciocervical syndrome 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Branchiootic syndrome 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Branchiootic syndrome 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Branchiootic syndrome 1 +1 more | |
| | | Deletion (3 prime UTR variant) | Branchiootorenal Spectrum Disorders +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Otofaciocervical syndrome 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Otofaciocervical syndrome 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Branchiootic syndrome 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Otofaciocervical syndrome 1 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Branchiootic syndrome 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Branchiootic syndrome 1 +1 more | |
| | EYA1, LOC130000578 +4 more | Deletion | Rare genetic deafness | |
| | | Single nucleotide variant (3 prime UTR variant) | Branchiootic syndrome 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Branchiootic syndrome 1 +2 more | |
| | EYA1, LOC130000578 +4 more | Deletion | Melnick-Fraser syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | EYA1-related condition +1 more | |
| | | Duplication (frameshift variant) | Melnick-Fraser syndrome | |
| | | Single nucleotide variant (missense variant) | EYA1-related condition | |
| | | Single nucleotide variant (synonymous variant) | Melnick-Fraser syndrome +5 more | |
| | | Duplication (frameshift variant) | Melnick-Fraser syndrome | |
| | | Single nucleotide variant (missense variant) | Rare genetic deafness +4 more | |
| | | Single nucleotide variant (missense variant) | Melnick-Fraser syndrome | |
| | | Single nucleotide variant (synonymous variant) | Melnick-Fraser syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Melnick-Fraser syndrome | |
| | | Duplication (frameshift variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | EYA1-related condition +1 more | |
| | | Deletion (frameshift variant) | Melnick-Fraser syndrome | |
| | | Single nucleotide variant (missense variant) | Otofaciocervical syndrome 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Otofaciocervical syndrome 1 +1 more | |
| | | Single nucleotide variant (intron variant) | Melnick-Fraser syndrome +4 more | |
| | | Single nucleotide variant (intron variant) | Melnick-Fraser syndrome +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Branchiootorenal syndrome 1 +3 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Otofaciocervical syndrome 1 +1 more | |
| | | Single nucleotide variant (splice donor variant) | Otofaciocervical syndrome 1 | |
| | | Single nucleotide variant (splice donor variant) | Melnick-Fraser syndrome | |
| | | Insertion (frameshift variant) | Rare genetic deafness | |
| | | Deletion (frameshift variant) | Branchiootorenal syndrome 1 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | Melnick-Fraser syndrome | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Microsatellite (inframe_deletion) | Melnick-Fraser syndrome | |
| | | Microsatellite (frameshift variant) | Branchiootic syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Deletion (frameshift variant) | Melnick-Fraser syndrome | |
| | | Single nucleotide variant (missense variant) | Anterior segment anomalies and cataract | |