| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | LMNA, LOC126805877 (T157fs +3 more) | Indel (frameshift variant +2 more) | Congenital muscular dystrophy due to LMNA mutation | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Abnormality of the musculature +8 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 +3 more | |
| | | Single nucleotide variant (missense variant) | Lethal tight skin contracture syndrome +14 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Congenital muscular dystrophy | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Hutchinson-Gilford syndrome +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Familial partial lipodystrophy, Dunnigan type +12 more | |
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