| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC126806147, LPIN1 (L280V +6 more) | Single nucleotide variant (missense variant +1 more) | Myoglobinuria, acute recurrent, autosomal recessive +1 more | |
| | LOC126806147, LPIN1 (P314fs +6 more) | Deletion (frameshift variant +1 more) | Myoglobinuria, acute recurrent, autosomal recessive | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | |
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