Table 3 Overview of genetic mutations in the TBC1D24 gene.
From: Investigation of a novel TBC1D24 variation causing autosomal dominant non-syndromic hearing loss
Function class | Benign | Likely benign | Uncertain significance | Likely pathogenic | Pathogenic | Total |
|---|---|---|---|---|---|---|
Missense | 5 | 8 | 360 | 27 | 52 | 452 |
Nonsense | 0 | 0 | 3 | 4 | 23 | 30 |
Frameshift | 0 | 0 | 4 | 3 | 27 | 34 |
Inframe Indel | 0 | 0 | 7 | 0 | 1 | 8 |
Splice junction loss | 0 | 0 | 1 | 4 | 2 | 7 |
