| | | Single nucleotide variant (missense variant) | not provided +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +9 more | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant nonsyndromic hearing loss 65 +9 more | |
| | | Single nucleotide variant (missense variant) | not provided +8 more | |
| | | Single nucleotide variant (missense variant) | not provided +8 more | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant nonsyndromic hearing loss 65 +9 more | |
| | | Single nucleotide variant (missense variant) | not provided +10 more | |
| | | Single nucleotide variant (intron variant) | not specified +9 more | |
| | | Single nucleotide variant (synonymous variant) | DOORS syndrome +10 more | |
| | | Duplication (frameshift variant) | DOORS syndrome +8 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Autosomal dominant nonsyndromic hearing loss 65 +7 more | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant nonsyndromic hearing loss 65 +10 more | |
| | | Single nucleotide variant (synonymous variant) | DOORS syndrome +10 more | |
| | | Single nucleotide variant (missense variant) | Caused by mutation in the TBC1 domain family, member 24 +9 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Autosomal recessive spinocerebellar ataxia 12 +5 more | |
| | | Single nucleotide variant (missense variant +2 more) | Autosomal recessive spinocerebellar ataxia 12 +4 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 28 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 28 +5 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 28 +4 more | |
| | | Single nucleotide variant (missense variant) | Malignant tumor of esophagus +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (nonsense) | Developmental and epileptic encephalopathy, 1 +4 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 1 +4 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 1 +4 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 28 +3 more | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 1 +5 more | |
| | | Single nucleotide variant (missense variant) | not provided +5 more | |
| | | Single nucleotide variant (missense variant) | Partington syndrome +5 more | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 1 +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 1 +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 1 +6 more | |
| | | Microsatellite (inframe_deletion) | Developmental and epileptic encephalopathy, 1 +4 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 1 +4 more | |
| | | Single nucleotide variant (missense variant) | not provided +6 more | GConflicting classifications of pathogenicity |