| | LOC112340388, LOC112441449 +821 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130058195, LOC130058196 +556 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | ARHGDIG, ATP6V0C +482 more | Copy number gain | See cases | |
| | LOC130058340, LOC130058341 +925 more | Copy number gain | See cases | |
| | LOC130058242, LOC130058243 +49 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Microsatellite (5 prime UTR variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant) | Familial infantile myoclonic epilepsy +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome +3 more | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant) | Familial infantile myoclonic epilepsy | |
| | | Single nucleotide variant (5 prime UTR variant) | Familial infantile myoclonic epilepsy +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant) | Familial infantile myoclonic epilepsy | |
| | | Single nucleotide variant (5 prime UTR variant) | Familial infantile myoclonic epilepsy | |
| | | Single nucleotide variant (5 prime UTR variant) | Familial infantile myoclonic epilepsy | |
| | | Deletion (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | Familial infantile myoclonic epilepsy | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | | Duplication | Developmental and epileptic encephalopathy, 1 +2 more | |
| | | Deletion | Autosomal dominant nonsyndromic hearing loss 65 +2 more | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant) | not specified +2 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Familial infantile myoclonic epilepsy | |
| | | Single nucleotide variant (missense variant +1 more) | 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) | Autosomal dominant nonsyndromic hearing loss 65 +2 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | TBC1D24-related condition +7 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 1 +2 more | |
| | | Single nucleotide variant (synonymous variant) | Autosomal dominant nonsyndromic hearing loss 65 +3 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +4 more | |
| | | Single nucleotide variant (missense variant) | Familial infantile myoclonic epilepsy | |
| | | Single nucleotide variant (synonymous variant) | Autosomal dominant nonsyndromic hearing loss 65 +2 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous 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 +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +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) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | DOORS syndrome | |
| | | Single nucleotide variant (synonymous variant) | Caused by mutation in the TBC1 domain family, member 24 +2 more | |
| | | Single nucleotide variant (missense variant) | Caused by mutation in the TBC1 domain family, member 24 +3 more | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant nonsyndromic hearing loss 65 +2 more | |
| | | Single nucleotide variant (synonymous 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 | |
| | | Indel (missense variant) | Developmental and epileptic encephalopathy, 1 +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Caused by mutation in the TBC1 domain family, member 24 +2 more | |
| | | Single nucleotide variant (synonymous variant) | Caused by mutation in the TBC1 domain family, member 24 +2 more | |
| | | Single nucleotide variant (missense variant) | Caused by mutation in the TBC1 domain family, member 24 +2 more | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 1 +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Autosomal dominant nonsyndromic hearing loss 65 +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +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) | Developmental and epileptic encephalopathy, 1 +3 more | |
| | | Single nucleotide variant (missense variant) | not specified +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | TBC1D24-related condition +4 more | |
| | | Single nucleotide variant (missense variant) | Caused by mutation in the TBC1 domain family, member 24 +4 more | |
| | | Single nucleotide variant (missense 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 | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Caused by mutation in the TBC1 domain family, member 24 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (nonsense) | Developmental and epileptic encephalopathy, 1 +3 more | |
| | | Single nucleotide variant (nonsense) | Autosomal dominant nonsyndromic hearing loss 65 +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 | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant nonsyndromic hearing loss 65 +3 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 1 +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | 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) | Caused by mutation in the TBC1 domain family, member 24 +2 more | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 1 +2 more | |
| | | Single nucleotide variant (missense variant) | Caused by mutation in the TBC1 domain family, member 24 +3 more | |