| | LOC129931453, LOC129931454 +1585 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | ADAMTS4, ALDH9A1 +371 more | Copy number loss | See cases | |
| | | Single nucleotide variant (3 prime UTR variant) | EAST syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | EAST syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | EAST syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | EAST syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal recessive nonsyndromic hearing loss 4 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | EAST syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | EAST syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | EAST syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | EAST syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | EAST syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | EAST syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | EAST syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | EAST syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | EAST syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | EAST syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | EAST syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | EAST syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | EAST syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | EAST syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal recessive nonsyndromic hearing loss 4 +1 more | |
| | | Deletion (3 prime UTR variant) | Seizures, Sensorineural Deafness, Ataxia, Intellectual Disability, and Electrolyte Imbalance Syndrome +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal recessive nonsyndromic hearing loss 4 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal recessive nonsyndromic hearing loss 4 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | EAST syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Seizures, Sensorineural Deafness, Ataxia, Intellectual Disability, and Electrolyte Imbalance Syndrome +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | EAST syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal recessive nonsyndromic hearing loss 4 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | EAST syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | EAST syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Pendred syndrome +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | EAST syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | EAST syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | EAST syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | EAST syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | EAST syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (3 prime UTR variant) | not provided | |
| | | Microsatellite (3 prime UTR variant) | Pendred syndrome +2 more | |
| | | Microsatellite (3 prime UTR variant) | Pendred syndrome +2 more | |
| | | Microsatellite (3 prime UTR variant) | not provided | |
| | | Microsatellite (3 prime UTR variant) | Pendred syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (3 prime UTR variant) | Pendred syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (3 prime UTR variant) | Pendred syndrome +3 more | |
| | | Microsatellite (3 prime UTR variant) | Pendred syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal recessive nonsyndromic hearing loss 4 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | EAST syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal recessive nonsyndromic hearing loss 4 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal recessive nonsyndromic hearing loss 4 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | EAST syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | EAST syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal recessive nonsyndromic hearing loss 4 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal recessive nonsyndromic hearing loss 4 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | EAST syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal recessive nonsyndromic hearing loss 4 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | EAST syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | EAST syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal recessive nonsyndromic hearing loss 4 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | EAST syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | EAST syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal recessive nonsyndromic hearing loss 4 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | EAST syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | EAST syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal recessive nonsyndromic hearing loss 4 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Nonsyndromic Hearing Loss, Mixed +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | EAST syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | EAST syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal recessive nonsyndromic hearing loss 4 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal recessive nonsyndromic hearing loss 4 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | EAST syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | EAST syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | EAST syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | EAST syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal recessive nonsyndromic hearing loss 4 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | EAST syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Seizures, Sensorineural Deafness, Ataxia, Intellectual Disability, and Electrolyte Imbalance Syndrome +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | EAST syndrome +1 more | |
| | | Single nucleotide variant (stop lost) | Autosomal recessive nonsyndromic hearing loss 4 +2 more | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +4 more | |
| | | Single nucleotide variant (synonymous variant) | EAST syndrome | |
| | | Single nucleotide variant (missense variant) | EAST syndrome | |
| | | Single nucleotide variant (missense variant) | EAST syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | EAST syndrome | |
| | | Single nucleotide variant (synonymous variant) | EAST syndrome | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | EAST syndrome | |