| | | Single nucleotide variant (intron variant) | Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome +3 more | |
| | | Deletion (frameshift variant) | Developmental and epileptic encephalopathy, 1 +2 more | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 16 | |
| | | Deletion (frameshift variant) | Autosomal dominant nonsyndromic hearing loss 65 +6 more | |
| | | Single nucleotide variant (splice donor variant) | DOORS syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 1 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome +7 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 1 +9 more | |
| | | Single nucleotide variant (missense variant) | not provided +8 more | |
| | | Single nucleotide variant (missense variant) | not provided +8 more | |
| | | | Familial infantile myoclonic epilepsy +2 more | |
| | | Duplication (frameshift variant) | not provided +8 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +9 more | |
| | | Single nucleotide variant (missense variant) | TBC1D24-related disorder +11 more | |
| | | Single nucleotide variant (missense variant) | Caused by mutation in the TBC1 domain family, member 24 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | DOORS syndrome +9 more | |
| | | Single nucleotide variant (missense variant) | not provided +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +10 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +9 more | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant nonsyndromic hearing loss 65 +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Autosomal dominant nonsyndromic hearing loss 65 +8 more | |
| | | Single nucleotide variant (missense variant) | not provided +9 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant) | DOORS syndrome | |
| | | Single nucleotide variant (missense variant) | DOORS syndrome | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 1 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | DOORS syndrome | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 1 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Autosomal dominant nonsyndromic hearing loss 65 +3 more | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +10 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +10 more | |
| | | Single nucleotide variant (intron variant) | not specified +8 more | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive nonsyndromic hearing loss 86 | |
| | | Single nucleotide variant (intron variant) | DOORS syndrome | |
| | | Deletion (frameshift variant) | not provided +7 more | |
| | | Single nucleotide variant (missense variant) | DOORS syndrome | |
| | | Single nucleotide variant (missense variant) | DOORS syndrome +4 more | |
| | | Single nucleotide variant (missense variant) | not provided +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Autosomal dominant nonsyndromic hearing loss 65 +5 more | GConflicting classifications of pathogenicity |