| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | ALAS2, LOC108663984 (S105N) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | ALAS2, LOC108663984 (V120A +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | ALAS2, LOC108663984 (F33S +1 more) | Single nucleotide variant (missense variant) | not provided | GConflicting classifications of pathogenicity |
| | ALAS2, LOC108663984 (V13M +1 more) | Single nucleotide variant (missense variant) | not provided | |
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