| | | Single nucleotide variant (missense variant) | Caused by mutation in the TBC1 domain family, member 24 +4 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) | Autosomal recessive nonsyndromic hearing loss 86 | |
| | | Single nucleotide variant (missense variant) | DOORS syndrome | |
| | | 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) | Autosomal dominant nonsyndromic hearing loss 65 +2 more | |
| | | Single nucleotide variant (nonsense) | 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, 16 +4 more | |
| | | Single nucleotide variant (missense variant) | Caused by mutation in the TBC1 domain family, member 24 +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Familial infantile myoclonic epilepsy | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive nonsyndromic hearing loss 86 | |
| | | Microsatellite (intron variant) | Developmental and epileptic encephalopathy, 16 | |
| | | Single nucleotide variant (missense variant) | DOORS syndrome | |
| | | Deletion (frameshift variant) | Autosomal dominant nonsyndromic hearing loss 65 +6 more | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental delay +7 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant) | DOORS syndrome | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant nonsyndromic hearing loss 65 +5 more | GConflicting classifications of pathogenicity |