| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | C2CD3, LOC126861262 (P1910A) | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | C2CD3, LOC126861262 (L1909P) | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Orofaciodigital syndrome type 14 +1 more | GConflicting classifications of pathogenicity |
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