| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | C2CD4A, LOC130057216 (R180S) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | C2CD4A, LOC130057216 (G187R) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | C2CD4A, LOC130057216 (L189P) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | C2CD4A, LOC130057216 (S198G) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | C2CD4A, LOC130057216 (R205H) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
Click to view in NCBI Gene