| | | Duplication | Developmental and epileptic encephalopathy, 1 +2 more | |
| | | Deletion | Developmental and epileptic encephalopathy, 1 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal dominant nonsyndromic hearing loss 65 +2 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 1 +3 more | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant nonsyndromic hearing loss 65 +2 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 1 +6 more | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant nonsyndromic hearing loss 65 +2 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +3 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 16 +4 more | |
| | | Single nucleotide variant (synonymous variant) | Autosomal dominant nonsyndromic hearing loss 65 +2 more | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 1 +2 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 1 +2 more | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 1 +3 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 1 +3 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Developmental and epileptic encephalopathy, 1 +2 more | |
| | | Single nucleotide variant (synonymous variant) | Autosomal dominant nonsyndromic hearing loss 65 +2 more | |
| | | Single nucleotide variant (nonsense) | Caused by mutation in the TBC1 domain family, member 24 +3 more | |
| | | Single nucleotide variant (synonymous variant) | Caused by mutation in the TBC1 domain family, member 24 +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 1 +2 more | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 1 +2 more | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant nonsyndromic hearing loss 65 +2 more | |
| | | Indel (missense variant) | Autosomal dominant nonsyndromic hearing loss 65 +2 more | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant nonsyndromic hearing loss 65 +2 more | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 1 +2 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 1 +2 more | |
| | | Single nucleotide variant (synonymous variant) | Familial infantile myoclonic epilepsy +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 1 +2 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 1 +3 more | |
| | | Single nucleotide variant (synonymous variant) | Caused by mutation in the TBC1 domain family, member 24 +2 more | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant nonsyndromic hearing loss 65 +2 more | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant nonsyndromic hearing loss 65 +8 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 1 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Autosomal dominant nonsyndromic hearing loss 65 +3 more | |
| | | Single nucleotide variant (missense variant) | DOORS syndrome +4 more | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant nonsyndromic hearing loss 65 +2 more | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant nonsyndromic hearing loss 65 +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 1 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | not provided +3 more | |
| | | Single nucleotide variant (nonsense) | not provided +3 more | |
| | | Single nucleotide variant (nonsense) | Autosomal dominant nonsyndromic hearing loss 65 +2 more | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant nonsyndromic hearing loss 65 +2 more | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 1 +2 more | |
| | | Single nucleotide variant (missense variant) | not specified +4 more | |
| | | Single nucleotide variant (missense variant) | Familial infantile myoclonic epilepsy +3 more | |
| | | Single nucleotide variant (missense variant) | Familial infantile myoclonic epilepsy +4 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 1 +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 1 +2 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 1 +2 more | |
| | | Single nucleotide variant (synonymous variant) | Caused by mutation in the TBC1 domain family, member 24 +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Familial infantile myoclonic epilepsy +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 1 +3 more | |
| | | Deletion (nonsense) | Caused by mutation in the TBC1 domain family, member 24 +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Autosomal dominant nonsyndromic hearing loss 65 +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 1 +2 more | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant nonsyndromic hearing loss 65 +3 more | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant nonsyndromic hearing loss 65 +2 more | |
| | | Single nucleotide variant (synonymous variant) | Autosomal dominant nonsyndromic hearing loss 65 +2 more | |
| | | Single nucleotide variant (missense variant) | Caused by mutation in the TBC1 domain family, member 24 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 1 +2 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 1 +2 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 1 +3 more | |
| | | Single nucleotide variant (synonymous variant) | Autosomal dominant nonsyndromic hearing loss 65 +2 more | |
| | | Single nucleotide variant (missense variant) | Caused by mutation in the TBC1 domain family, member 24 +4 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 1 +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +6 more | |
| | | Single nucleotide variant (synonymous variant) | Autosomal dominant nonsyndromic hearing loss 65 +6 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 1 +4 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 1 +2 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +3 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 1 +2 more | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 1 +2 more | |
| | | Single nucleotide variant (missense variant) | DOORS syndrome +9 more | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 1 +3 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 1 +2 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 1 +2 more | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant nonsyndromic hearing loss 65 +2 more | |
| | | Microsatellite (inframe_deletion) | Developmental and epileptic encephalopathy, 1 +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Autosomal dominant nonsyndromic hearing loss 65 +2 more | |
| | | Single nucleotide variant (missense variant) | Caused by mutation in the TBC1 domain family, member 24 +3 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +4 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 1 +3 more | |
| | | Single nucleotide variant (missense variant) | Caused by mutation in the TBC1 domain family, member 24 +2 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 1 +2 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 1 +2 more | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant nonsyndromic hearing loss 65 +2 more | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant nonsyndromic hearing loss 65 +3 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 1 +2 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 1 +2 more | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 1 +2 more | |
| | | Deletion (frameshift variant) | Developmental and epileptic encephalopathy, 1 +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 1 +2 more | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 1 +2 more | |