| | LOC129931453, LOC129931454 +1585 more | Copy number gain | See cases | |
| | ADAM15, ADAM15-EFNA4 +297 more | Copy number gain | See cases | |
| | ARHGEF2, ARHGEF2-AS2 +90 more | Copy number gain | See cases | |
| | ARHGEF2-AS2, ARHGEF2 +44 more | Duplication | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Emery-Dreifuss muscular dystrophy +10 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Emery-Dreifuss muscular dystrophy +9 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +10 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Emery-Dreifuss muscular dystrophy +10 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Lethal tight skin contracture syndrome +9 more | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | Lethal tight skin contracture syndrome +9 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Lethal tight skin contracture syndrome +10 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Hutchinson-Gilford syndrome +10 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Hutchinson-Gilford syndrome +9 more | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | Lethal tight skin contracture syndrome +12 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Hutchinson-Gilford syndrome +9 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Emery-Dreifuss muscular dystrophy +9 more | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | LMNA, LOC120893162 +5 more | Duplication | Charcot-Marie-Tooth disease type 2 | |
| | LMNA, LOC120893162 +5 more | Deletion | Charcot-Marie-Tooth disease type 2 | |
| | LMNA, LOC120893162 +3 more | Deletion | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Cardiomyopathy | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Primary dilated cardiomyopathy | |
| | | Deletion | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Primary dilated cardiomyopathy | |
| | | Deletion (inframe_deletion +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Primary dilated cardiomyopathy | |
| | | Deletion (frameshift variant +3 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | Lethal tight skin contracture syndrome +9 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Cardiomyopathy | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Heart-hand syndrome, Slovenian type +12 more | |
| | | Single nucleotide variant (missense variant +3 more) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant +1 more) | Charcot-Marie-Tooth disease type 2 | |
| | | Deletion | Charcot-Marie-Tooth disease type 2 | |
| | | Deletion | Primary dilated cardiomyopathy +1 more | |
| | | Single nucleotide variant (missense variant +3 more) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant +1 more) | See cases +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Charcot-Marie-Tooth disease type 2 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | Cardiovascular phenotype | |
| | | Single nucleotide variant (nonsense) | Cardiovascular phenotype +1 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 +1 more | |
| | | Duplication (frameshift variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 +2 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 +1 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (missense variant) | Primary dilated cardiomyopathy +1 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease +16 more | |
| | | Deletion (frameshift variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Deletion (frameshift variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +1 more | |
| | | Single nucleotide variant (nonsense) | Primary dilated cardiomyopathy | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (missense variant) | Cardiomyopathy +2 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +3 more | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease type 2 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 | |
| | LMNA, LOC129931597 (T10fs) | Duplication (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 | |
| | LMNA, LOC129931597 (R11fs) | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | Charcot-Marie-Tooth disease type 2 +2 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 | |
| | LMNA, LOC129931597 (A14fs) | Deletion (frameshift variant +2 more) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (missense variant) | Cardiomyopathy | |
| | | Single nucleotide variant (synonymous variant +2 more) | Cardiomyopathy +2 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +2 more | |
| | | Single nucleotide variant (nonsense) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (missense variant +2 more) | Primary dilated cardiomyopathy | |
| | | Single nucleotide variant (missense variant +2 more) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (missense variant) | Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome +12 more | |
| | LMNA, LOC129931597 (S17fs) | Deletion (frameshift variant) | not provided | |
| | LOC129931597, LMNA (T19fs) | Duplication (frameshift variant) | Primary dilated cardiomyopathy +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Emery-Dreifuss muscular dystrophy 2, autosomal dominant +20 more | |
| | | Single nucleotide variant (missense variant +2 more) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (synonymous variant +2 more) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant +2 more) | Primary dilated cardiomyopathy | |
| | LMNA, LOC129931597 (T24fs) | Insertion (frameshift variant +2 more) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Developmental regression +3 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | LMNA, LOC129931597 (S22fs) | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Dilated cardiomyopathy 1A +14 more | GConflicting classifications of pathogenicity |