| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | See cases +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Renal carnitine transport defect +2 more | |
| | | Single nucleotide variant (splice acceptor variant) | Renal carnitine transport defect | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
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