| | | Duplication | Myofibrillar myopathy 4 | |
| | | Deletion | Myofibrillar myopathy 4 | |
| | LDB3, LOC110121486 (D164G +1 more) | Single nucleotide variant (missense variant +1 more) | Myofibrillar myopathy 4 | |
| | | Single nucleotide variant (intron variant) | Myofibrillar myopathy 4 | |
| | | Single nucleotide variant (intron variant) | Myofibrillar myopathy 4 | |
| | LDB3, LOC110121486 (N123K +1 more) | Single nucleotide variant (missense variant +1 more) | Myofibrillar myopathy 4 | |
| | LDB3, LOC110121486 (P113L) | Single nucleotide variant (missense variant +1 more) | Myofibrillar myopathy 4 | |
| | LDB3, LOC110121486 (P137H +1 more) | Single nucleotide variant (missense variant +1 more) | Myofibrillar myopathy 4 | |
| | | Single nucleotide variant (intron variant +1 more) | Myofibrillar myopathy 4 | |
| | LDB3, LOC110121486 (S240N +1 more) | Single nucleotide variant (missense variant +1 more) | Myofibrillar myopathy 4 | |
| | LDB3, LOC110121486 (D283V +1 more) | Single nucleotide variant (missense variant +1 more) | Myofibrillar myopathy 4 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Myofibrillar myopathy 4 | |
| | | Single nucleotide variant (intron variant +1 more) | Myofibrillar myopathy 4 | |
| | LDB3, LOC110121486 (P124L +1 more) | Single nucleotide variant (missense variant +1 more) | Myofibrillar myopathy 4 | |
| | LDB3, LOC110121486 (H151R +1 more) | Single nucleotide variant (missense variant +1 more) | Myofibrillar myopathy 4 | |
| | | Single nucleotide variant (intron variant) | Myofibrillar myopathy 4 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Myofibrillar myopathy 4 | |
| | | Single nucleotide variant (intron variant) | Myofibrillar myopathy 4 | |
| | LDB3, LOC110121486 (I138N +1 more) | Single nucleotide variant (missense variant +1 more) | Myofibrillar myopathy 4 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Myofibrillar myopathy 4 | |
| | | Single nucleotide variant (missense variant +1 more) | Dilated cardiomyopathy 1C | |
| | | Single nucleotide variant (intron variant) | Dilated cardiomyopathy 1C | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | LDB3, LOC110121486 (A176V +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | LDB3, LOC110121486 (S130L +1 more) | Single nucleotide variant (missense variant +1 more) | Myofibrillar myopathy 4 | |
| | | Single nucleotide variant (intron variant) | Myofibrillar myopathy 4 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Myofibrillar myopathy 4 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Myofibrillar myopathy 4 | |
| | LOC110121486, LDB3 (D164N +1 more) | Single nucleotide variant (missense variant +1 more) | Myofibrillar myopathy 4 | |
| | LDB3, LOC110121486 (V108A) | Single nucleotide variant (missense variant +1 more) | Myofibrillar myopathy 4 | |
| | LDB3, LOC110121486 (G145R +1 more) | Single nucleotide variant (missense variant +1 more) | Myofibrillar myopathy 4 | |
| | | Single nucleotide variant (5 prime UTR variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (intron variant) | Myofibrillar myopathy 4 | |
| | | Single nucleotide variant (intron variant) | Myofibrillar myopathy 4 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Myofibrillar myopathy 4 | |
| | | Single nucleotide variant (intron variant) | Myofibrillar myopathy 4 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Myofibrillar myopathy 4 | |
| | | Single nucleotide variant (intron variant) | Myofibrillar myopathy 4 | |
| | | Single nucleotide variant (intron variant) | Myofibrillar myopathy 4 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Myofibrillar myopathy 4 | |
| | LDB3, LOC110121486 (D117H +1 more) | Single nucleotide variant (missense variant +1 more) | Myofibrillar myopathy 4 | |
| | | Single nucleotide variant (intron variant) | Myofibrillar myopathy 4 | |
| | LDB3, LOC110121486 (K243Q +1 more) | Single nucleotide variant (missense variant +1 more) | Myofibrillar myopathy 4 | |
| | LDB3, LOC110121486 (H135Q +1 more) | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | LDB3, LOC110121486 (E120K +1 more) | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | LDB3, LOC110121486 (P137L +1 more) | Single nucleotide variant (missense variant +1 more) | Myofibrillar myopathy 4 | |
| | | Single nucleotide variant (intron variant) | Dilated cardiomyopathy 1C | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | LDB3, LOC110121486 (N111D) | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | Myofibrillar myopathy 4 | |
| | | Single nucleotide variant (intron variant) | Myofibrillar myopathy 4 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Myofibrillar myopathy 4 | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +2 more | |
| | LDB3, LOC110121486 (V109G) | Single nucleotide variant (missense variant +1 more) | Myofibrillar myopathy 4 | |
| | LDB3, LOC110121486 (Y118S +1 more) | Single nucleotide variant (missense variant +1 more) | Myofibrillar myopathy 4 | |
| | LDB3, LOC110121486 (A152E +1 more) | Single nucleotide variant (missense variant +1 more) | Myofibrillar myopathy 4 | |
| | LDB3, LOC110121486 (F122I +1 more) | Single nucleotide variant (missense variant +1 more) | Myofibrillar myopathy 4 | |
| | LDB3, LOC110121486 (I158V +1 more) | Single nucleotide variant (missense variant +1 more) | Myofibrillar myopathy 4 | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | LDB3, LOC110121486 (N111S) | Single nucleotide variant (missense variant +1 more) | Myofibrillar myopathy 4 | |
| | | Single nucleotide variant (missense variant) | Dilated cardiomyopathy 1C | |
| | | Single nucleotide variant (5 prime UTR variant) | Dilated cardiomyopathy 1C +1 more | |
| | | Single nucleotide variant (intron variant) | Myofibrillar myopathy 4 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | LDB3, LOC110121486 (A286S +1 more) | Single nucleotide variant (missense variant +1 more) | Myofibrillar myopathy 4 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Myofibrillar myopathy 4 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Myofibrillar myopathy 4 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | LDB3, LOC110121486 (N111K) | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | LDB3, LOC110121486 (R236C +1 more) | Single nucleotide variant (missense variant +1 more) | Myofibrillar myopathy 4 | |
| | LDB3, LOC110121486 (Q288K +1 more) | Single nucleotide variant (missense variant +1 more) | Myofibrillar myopathy 4 | |
| | | Single nucleotide variant (5 prime UTR variant) | Cardiomyopathy | |
| | LDB3, LOC110121486 (Q177R +1 more) | Single nucleotide variant (missense variant +1 more) | Myofibrillar myopathy 4 | |
| | LDB3, LOC110121486 (Q119* +1 more) | Single nucleotide variant (intron variant +1 more) | Myofibrillar myopathy 4 | |
| | LDB3, LOC110121486 (D164H +1 more) | Single nucleotide variant (missense variant +1 more) | Dilated cardiomyopathy 1C +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Myofibrillar myopathy 4 | |
| | LOC110121486, LDB3 (M160I +1 more) | Single nucleotide variant (missense variant +1 more) | Myofibrillar myopathy 4 | |
| | LDB3, LOC110121486 (G144S +1 more) | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | LDB3, LOC110121486 (G145S +1 more) | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype +3 more | |
| | | Single nucleotide variant (intron variant) | Myofibrillar myopathy 4 +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Myofibrillar myopathy 4 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Myofibrillar myopathy 4 | |
| | LDB3, LOC110121486 (T156M +1 more) | Single nucleotide variant (missense variant +1 more) | Myofibrillar myopathy 4 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Myofibrillar myopathy 4 | |
| | | Single nucleotide variant (intron variant +1 more) | Myofibrillar myopathy 4 | |
| | LDB3, LOC110121486 (S182N +1 more) | Single nucleotide variant (missense variant +1 more) | Myofibrillar myopathy 4 +1 more | |