| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | C2CD3, LOC126861262 (D1928E) | Single nucleotide variant (missense variant) | Orofaciodigital syndrome type 14 | |
| | | Single nucleotide variant (intron variant) | Orofaciodigital syndrome type 14 +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Orofaciodigital syndrome type 14 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Orofaciodigital syndrome type 14 | |
| | | Duplication (frameshift variant) | not provided +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene