| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (synonymous variant) | Primary dilated cardiomyopathy +16 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Lethal tight skin contracture syndrome +14 more | GConflicting classifications of pathogenicity |
| | LMNA, LOC126805877 (E161K +2 more) | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 +6 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene