Table 5.
Missense variants found in familial MD cases.
| Cases | Family | SNV | Gene | RefSeq | Described in | Pathogenicity | MAF (gnomAD) | MAF (ExAC) |
|---|---|---|---|---|---|---|---|---|
| All | 1 | chr2:70527974 G>A | FAM136A | NM_032822.2 | (Requena et al., 2015) | Pathogenic | ||
| 1 | 1 | chr4:6303197 G>A | WFS1 | NM_006005.3 | No | Conflicting interpretations of pathogenicity | 0.0041 | 0.0045 |
| 2 | 1 | chr13:20763264 C>T | GJB2 | NM_004004.5 | No | Benign/likely benign | 0.0094 | 0.0106 |
| All | 1 | chr18:32462094 G>T | DTNA | NM_001198938.1 | (Requena et al., 2015) | Likely pathogenic | 3.66E-05 | 2.47E-05 |
| 2 | 2 | chr1:41296865 G>A | KCNQ4 | NM_004700.3 | No | Unknown significance | 2.13E-05 | 3.49E-05 |
| All | 2 | chr1:168665849 G>A | DPT | NM_001937.4 | (Martín-Sierra et al., 2017) | Likely pathogenic | 2.03E-05 | 2.5E-05 |
| 2 | 2 | chr4:2900221 A>G | ADD1 | NM_014189.3 | No | Unknown significance | 8.12E-06 | 8.24E-06 |
| All | 3 | chr7:84642128 C>T | SEMA3D | NM_152754.2 | (Martín-Sierra et al., 2017) | Pathogenic | ||
| All | 3 | chr8:102555482 G>T | GRHL2 | NM_024915.3 | No | Unknown significance | ||
| All | 4 | chr16:23999898 G>T | PRKCB | NM_002738.6 | Martín-Sierra et al., 2016 | Pathogenic | ||
| 1 | 4 | chr22:38119405 C>T | TRIOBP | NM_001039141.2 | No | Likely benign | 4.06E-05 | 2.49E-05 |
| 1 | 4 | chr3:191098660 A>G | CCDC50 | NM_178335.2 | No | Benign | 0.0061 | 0.0065 |
| 1 | 4 | chr11:110134833 T>C | RDX | NM_002906.3 | No | Unknown significance |
Variants were retrieved from familial cases segregating a partial phenotype in different families.