| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | CHKB-CPT1B, CPT1B (Y392S +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | CHKB, CHKB-CPT1B (E336del) | Microsatellite (inframe_indel +2 more) | Megaconial type congenital muscular dystrophy | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Megaconial type congenital muscular dystrophy | |
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