| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | THOC7, C3orf49 (A193V +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | C3orf49, THOC7 (E192A +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | C3orf49, THOC7 (I100M +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | THOC7, C3orf49 (E138D +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | C3orf49, THOC7 (H77P +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | THOC7, C3orf49 (A95T +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | C3orf49, THOC7 (K14R +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | THOC7, C3orf49 (M64V +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | C3orf49, THOC7 (T4M +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Inborn genetic diseases | |
Click to view in NCBI Gene