TBC1D24

Clinically classified variants

29 reference-table entries with clinical significance.

• rs1135527Benignsingle nucleotide variantFamilial infantile myoclonic epilepsy
• rs184389316Benignsingle nucleotide variantFamilial infantile myoclonic epilepsy|Autosomal dominant nonsyndromic hearing loss 65|Developmental and epileptic encephalopathy, 1|Caused by mutation in the TBC1 domain family, member 24|Seizure
• rs184639841Benignsingle nucleotide variantFamilial infantile myoclonic epilepsy|Seizure|Caused by mutation in the TBC1 domain family, member 24|Developmental and epileptic encephalopathy, 1|Autosomal dominant nonsyndromic hearing loss 65
• rs201374999Benignsingle nucleotide variantFamilial infantile myoclonic epilepsy|Autosomal dominant nonsyndromic hearing loss 65|Developmental and epileptic encephalopathy, 1|Caused by mutation in the TBC1 domain family, member 24|Seizure
• rs4786286Benignsingle nucleotide variantFamilial infantile myoclonic epilepsy
• rs61731477Benignsingle nucleotide variantDevelopmental and epileptic encephalopathy, 1|Caused by mutation in the TBC1 domain family, member 24|Autosomal dominant nonsyndromic hearing loss 65
• rs72768728Benignsingle nucleotide variantSeizure|Autosomal dominant nonsyndromic hearing loss 65|Developmental and epileptic encephalopathy, 1|Caused by mutation in the TBC1 domain family, member 24|Familial infantile myoclonic epilepsy
• rs75961715Benignsingle nucleotide variantFamilial infantile myoclonic epilepsy|Developmental and epileptic encephalopathy, 1|Caused by mutation in the TBC1 domain family, member 24|Autosomal dominant nonsyndromic hearing loss 65|Seizure
• rs77585883Benignsingle nucleotide variantFamilial infantile myoclonic epilepsy|Caused by mutation in the TBC1 domain family, member 24|Developmental and epileptic encephalopathy, 1|Autosomal dominant nonsyndromic hearing loss 65
• rs188739853Conflicting interpretationssingle nucleotide variantFamilial infantile myoclonic epilepsy|Autosomal dominant nonsyndromic hearing loss 65|Developmental and epileptic encephalopathy, 1|Caused by mutation in the TBC1 domain family, member 24
• rs199852092Conflicting interpretationssingle nucleotide variantFamilial infantile myoclonic epilepsy
• rs200226466Conflicting interpretationssingle nucleotide variantAutosomal dominant nonsyndromic hearing loss 65|Developmental and epileptic encephalopathy, 1|Caused by mutation in the TBC1 domain family, member 24|Familial infantile myoclonic epilepsy
• rs201649140Conflicting interpretationssingle nucleotide variantSeizure|Developmental and epileptic encephalopathy, 1|Autosomal dominant nonsyndromic hearing loss 65|Caused by mutation in the TBC1 domain family, member 24|Familial infantile myoclonic epilepsy
• rs267607105Conflicting interpretationssingle nucleotide variantFamilial infantile myoclonic epilepsy|Autosomal dominant nonsyndromic hearing loss 65|Developmental and epileptic encephalopathy, 1|Caused by mutation in the TBC1 domain family, member 24|DOORS syndrome
• rs370244846Conflicting interpretationssingle nucleotide variantAutosomal dominant nonsyndromic hearing loss 65|Developmental and epileptic encephalopathy, 1|Caused by mutation in the TBC1 domain family, member 24|Familial infantile myoclonic epilepsy
• rs370869383Conflicting interpretationssingle nucleotide variantFamilial infantile myoclonic epilepsy|Caused by mutation in the TBC1 domain family, member 24|Autosomal dominant nonsyndromic hearing loss 65|Developmental and epileptic encephalopathy, 1
• rs377697825Conflicting interpretationssingle nucleotide variantFamilial infantile myoclonic epilepsy|Caused by mutation in the TBC1 domain family, member 24|Autosomal dominant nonsyndromic hearing loss 65|Developmental and epileptic encephalopathy, 1
• rs540861763Conflicting interpretationssingle nucleotide variantFamilial infantile myoclonic epilepsy
• rs747538224Conflicting interpretationssingle nucleotide variantDevelopmental and epileptic encephalopathy, 1|Autosomal dominant nonsyndromic hearing loss 65|Caused by mutation in the TBC1 domain family, member 24|Inborn genetic diseases|developmental delay with seizures|DOORS syndrome
• rs747821285Conflicting interpretationssingle nucleotide variantDOORS syndrome|Autosomal dominant nonsyndromic hearing loss 65|Caused by mutation in the TBC1 domain family, member 24|Developmental and epileptic encephalopathy, 1
• rs749163517Conflicting interpretationssingle nucleotide variantAutosomal dominant nonsyndromic hearing loss 65|Caused by mutation in the TBC1 domain family, member 24|Developmental and epileptic encephalopathy, 1|Familial infantile myoclonic epilepsy
• rs766745103Conflicting interpretationssingle nucleotide variantFamilial infantile myoclonic epilepsy|Autosomal dominant nonsyndromic hearing loss 65|Developmental and epileptic encephalopathy, 1|Caused by mutation in the TBC1 domain family, member 24|Seizure
• rs779963634Conflicting interpretationssingle nucleotide variantFamilial infantile myoclonic epilepsy|Autosomal dominant nonsyndromic hearing loss 65|Developmental and epileptic encephalopathy, 1|Caused by mutation in the TBC1 domain family, member 24
• rs780054979Conflicting interpretationssingle nucleotide variant
• rs201257588Pathogenicsingle nucleotide variantDOORS syndrome
• rs398122966Pathogenicsingle nucleotide variantDOORS syndrome|Developmental and epileptic encephalopathy, 1|Autosomal dominant nonsyndromic hearing loss 65|Caused by mutation in the TBC1 domain family, member 24
• rs398122968Pathogenicsingle nucleotide variantDOORS syndrome
• rs760474458Pathogenicsingle nucleotide variantDOORS syndrome|Autosomal dominant nonsyndromic hearing loss 65|Caused by mutation in the TBC1 domain family, member 24|Developmental and epileptic encephalopathy, 1
• rs797044548Pathogenicsingle nucleotide variantDOORS syndrome

Other listed variants

• rs72768725
• rs75864081
• rs117053158
• rs200324356

Public references

• NCBI Gene
• Ensembl
• ClinVar