| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | Growth delay +19 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Nestor-Guillermo progeria syndrome | |
| | LOC126805877, LMNA (S143F +2 more) | Single nucleotide variant (missense variant) | Congenital muscular dystrophy due to LMNA mutation | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive axonal hereditary motor and sensory neuropathy +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +5 more | |
| | | Single nucleotide variant (missense variant) | Primary dilated cardiomyopathy +2 more | |
| | | Single nucleotide variant (missense variant) | not specified +3 more | |
| | | Single nucleotide variant (missense variant) | Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more | |
| | | Single nucleotide variant (missense variant) | not specified +2 more | |
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