Links from PubMed
Items: 5
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Malignant hyperthermia, susceptibility to, 5 +1 more | GConflicting classifications of pathogenicity |
| | POLG, POLGARF (T251I +1 more) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Hypokalemic periodic paralysis, type 1 +2 more | |
| | | Single nucleotide variant (missense variant) | Hypokalemic periodic paralysis, type 1 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +14 more | GConflicting classifications of pathogenicity |
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