| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion | not provided | |
| | C2CD3, LOC121392929 (A297P) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Microsatellite (intron variant) | not provided | |
| | C2CD3, LOC126861262 (Y1899C) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | C2CD3, LOC121392929 (F255fs) | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | C2CD3, LOC126861262 (D1928E) | Single nucleotide variant (missense variant) | Orofaciodigital syndrome type 14 | |
| | C2CD3, LOC126861262 (L1904V) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (splice donor variant) | not provided | |
| | C2CD3, LOC121392929 (S282T) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | C2CD3, LOC126861262 (P1939S) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | C2CD3, LOC126861262 (S1891N) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | C2CD3, LOC126861262 (P1907L) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | LOC126861262, C2CD3 (R1901H) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | C2CD3, LOC121392929 (L283F) | Single nucleotide variant (missense variant) | not provided | |
| | C2CD3, LOC126861262 (T1917fs) | Duplication (frameshift variant) | not provided | |
| | C2CD3, LOC126861262 (R1927S) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | C2CD3, LOC121392929 (Q258L) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | C2CD3, LOC121392929 (L316V) | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | C2CD3, LOC121392929 (K273E) | Single nucleotide variant (missense variant) | not provided | |
| | C2CD3, LOC121392929 (Q290R) | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | C2CD3, LOC121392929 (N262I) | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | C2CD3, LOC126861262 (R1901C) | Single nucleotide variant (missense variant) | Orofaciodigital syndrome type 14 +1 more | |
| | C2CD3, LOC126861262 (G1940E) | Single nucleotide variant (missense variant) | not provided | |
| | C2CD3, LOC121392929 (R278W) | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | C2CD3, LOC126861262 (L1909P) | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | C2CD3, LOC126861262 (P1910A) | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | C2CD3, LOC126861262 (L1911V) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (splice donor variant) | Orofaciodigital syndrome type 14 | |
| | | Duplication (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Orofaciodigital syndrome type 14 | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | C2CD3, LOC121392929 (L306P) | Single nucleotide variant (missense variant) | not provided +7 more | GConflicting classifications of pathogenicity |
| | C2CD3, LOC126861262 (V1955A) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (splice donor variant) | Familial aplasia of the vermis | |