| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | LOC126806147, LPIN1 (T255K +6 more) | Single nucleotide variant (missense variant +1 more) | Myoglobinuria, acute recurrent, autosomal recessive +1 more | GConflicting classifications of pathogenicity |
| | LOC122756382, LPIN1 (Q446H +6 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (splice acceptor variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Myoglobinuria, acute recurrent, autosomal recessive +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Myoglobinuria, acute recurrent, autosomal recessive +2 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +1 more | |
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