| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | CERKL, LOC129935214 (R77C) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | CERKL, LOC129935214 (I73V) | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | CERKL, LOC129935214 (S64N) | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | CERKL, LOC129935214 (D60G) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
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