| | | Deletion (splice acceptor variant +1 more) | Branchiootorenal syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Branchiootorenal syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Branchiootorenal syndrome 1 | |
| | | Single nucleotide variant (missense variant +2 more) | Branchiootorenal syndrome 1 | |
| | | Single nucleotide variant (nonsense) | Branchiootorenal syndrome 1 | |
| | | Single nucleotide variant (nonsense) | Branchiootorenal syndrome 1 | |
| | | Single nucleotide variant (nonsense) | Branchiootorenal syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Branchiootorenal syndrome 1 | |
| | | Single nucleotide variant (intron variant) | Melnick-Fraser syndrome +3 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Melnick-Fraser syndrome +3 more | |
| | | Single nucleotide variant (synonymous variant) | Branchiootorenal syndrome 1 +3 more | |
| | | Single nucleotide variant (missense variant) | Branchiootorenal syndrome 1 | |
| | | Microsatellite (frameshift variant) | Melnick-Fraser syndrome +3 more | |
| | | Single nucleotide variant (nonsense) | Branchiootorenal syndrome 1 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Branchiootic syndrome 1 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Melnick-Fraser syndrome +3 more | |
| | | Single nucleotide variant (intron variant) | Branchiootorenal syndrome 1 +3 more | |
| | | Single nucleotide variant (missense variant) | Melnick-Fraser syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Branchiootic syndrome 3 +3 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Branchiootic syndrome 1 +4 more | |
| | | Single nucleotide variant (intron variant) | Branchiootorenal syndrome 1 +3 more | |
| | | Single nucleotide variant (intron variant) | not provided +3 more | |
| | | Single nucleotide variant (intron variant) | not provided +3 more | |
| | | Single nucleotide variant (intron variant) | Branchiootic syndrome 1 +3 more | |
| | | Single nucleotide variant (intron variant) | not provided +4 more | |
| | | Single nucleotide variant (splice donor variant) | Melnick-Fraser syndrome +1 more | |
| | | Deletion (frameshift variant) | Branchiootorenal syndrome 1 | |
| | | Deletion (frameshift variant) | Branchiootorenal syndrome 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Branchiootorenal syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Branchiootorenal syndrome 1 +3 more | |
| | | Single nucleotide variant (missense variant) | Branchiootorenal syndrome 1 +3 more | |
| | | Single nucleotide variant (missense variant) | Melnick-Fraser syndrome +5 more | |
| | | Single nucleotide variant (intron variant) | Branchiootic syndrome 1 +2 more | |
| | | Single nucleotide variant (nonsense) | not provided +3 more | |
| | | Deletion | Branchiootorenal syndrome 1 +1 more | |
| | | Deletion | Melnick-Fraser syndrome +1 more | |
| | | Deletion | Melnick-Fraser syndrome +1 more | |
| | | Insertion (frameshift variant) | Branchiootorenal syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Branchiootorenal syndrome 1 | |
| | | Single nucleotide variant (nonsense) | Melnick-Fraser syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Melnick-Fraser syndrome +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Branchiootorenal syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | Branchiootorenal syndrome 1 | |
| | | Single nucleotide variant (synonymous variant) | Branchiootic syndrome 1 +3 more | |
| | | Single nucleotide variant (synonymous variant) | Autosomal dominant nonsyndromic hearing loss 23 +2 more | |
| | | Single nucleotide variant (synonymous variant) | Branchiootic syndrome 3 +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Otofaciocervical syndrome 1 +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Branchiootic syndrome 1 +4 more | GConflicting classifications of pathogenicity |
| | EYA1, LOC130000578 +4 more | Deletion | Branchiootorenal syndrome 1 +1 more | |
| | | Single nucleotide variant (nonsense) | Branchiootorenal syndrome 1 +1 more | |
| | | Single nucleotide variant (splice donor variant) | Branchiootic syndrome 1 +2 more | |
| | | Single nucleotide variant (missense variant) | Branchiootorenal syndrome 1 +2 more | |
| | EYA1, LOC130000578 +3 more | Deletion | Melnick-Fraser syndrome +1 more | |
| | | Single nucleotide variant (nonsense) | Melnick-Fraser syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Branchiootic syndrome 3 +3 more | |
| | | Single nucleotide variant (nonsense +1 more) | Branchiootorenal syndrome 1 +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +5 more | |
| | | Single nucleotide variant (nonsense) | EYA1-related disorder +5 more | |
| | | Single nucleotide variant (nonsense) | Branchiootic syndrome 1 +2 more | |
| | | Single nucleotide variant (missense variant) | Branchiootic syndrome 1 +3 more | |
| | | Single nucleotide variant (intron variant) | Otofaciocervical syndrome 1 +5 more | |
| | | Single nucleotide variant (intron variant) | Branchiootic syndrome 1 +5 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Otofaciocervical syndrome 1 +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Branchiootic syndrome 1 +3 more | |
| | | Single nucleotide variant (missense variant) | not specified +3 more | |
| | | Single nucleotide variant (missense variant) | Branchiootic syndrome 1 +3 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +5 more | |
| | | Single nucleotide variant (synonymous variant) | Autosomal dominant nonsyndromic hearing loss 23 +4 more | |
| | | Single nucleotide variant (intron variant) | Branchiootic syndrome 1 +4 more | |
| | | Single nucleotide variant (missense variant) | Otofaciocervical syndrome 1 +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Branchiootorenal syndrome 1 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not specified +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Melnick-Fraser syndrome +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Melnick-Fraser syndrome +5 more | |
| | | Single nucleotide variant (intron variant) | not provided +5 more | |
| | | Single nucleotide variant (missense variant) | Branchiootorenal syndrome 1 +3 more | |
| | | Single nucleotide variant (splice donor variant) | Branchiootorenal syndrome 1 +3 more | |
| | | Single nucleotide variant (synonymous variant) | Melnick-Fraser syndrome +5 more | |
| | | Single nucleotide variant (synonymous variant) | Melnick-Fraser syndrome +5 more | |
| | | Single nucleotide variant (missense variant) | Rare genetic deafness +4 more | |
| | | Single nucleotide variant (synonymous variant) | Melnick-Fraser syndrome +5 more | |
| | | Single nucleotide variant (missense variant) | Branchiootic syndrome 3 +4 more | |
| | | Single nucleotide variant (intron variant) | Melnick-Fraser syndrome +2 more | |
| | | Single nucleotide variant (nonsense +1 more) | EYA1-related disorder +4 more | |
| | | Single nucleotide variant (missense variant) | Branchiootorenal syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Melnick-Fraser syndrome | |
| | | Duplication (frameshift variant) | Branchiootorenal syndrome 1 | |
| | | Single nucleotide variant (missense variant) | not specified +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Rare genetic deafness +2 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Branchiootorenal syndrome 1 | |
| | | Insertion | Branchiootorenal syndrome 1 | |
| | | Indel (frameshift variant) | Branchiootorenal syndrome 1 | |
| | | Single nucleotide variant (nonsense) | Rare genetic deafness +3 more | |