| | | Duplication | Dystonia 16 | |
| | LOC129935186, LOC126806420 +7 more | Deletion | Dilated cardiomyopathy 1G +1 more | |
| | LOC126806420, TTN +1 more (I24518fs +5 more) | Deletion (frameshift variant) | Dilated cardiomyopathy 1G +1 more | |
| | LOC126806420, TTN +1 more (N24583fs +5 more) | Insertion (frameshift variant) | Dilated cardiomyopathy 1G +1 more | |
| | LOC126806420, TTN +1 more (L24584fs +5 more) | Insertion (frameshift variant) | Dilated cardiomyopathy 1G +1 more | |
| | LOC126806420, TTN +1 more (N24391fs +5 more) | Deletion (frameshift variant) | Dilated cardiomyopathy 1G +1 more | |
| | | Single nucleotide variant (synonymous variant) | Dilated cardiomyopathy 1G +1 more | |
| | | Single nucleotide variant (synonymous variant) | Dilated cardiomyopathy 1G +1 more | |
| | LOC126806420, TTN +1 more (R31807* +5 more) | Single nucleotide variant (nonsense) | Dilated cardiomyopathy 1G +1 more | |
| | | Single nucleotide variant (synonymous variant) | Dilated cardiomyopathy 1G +1 more | |
| | | Single nucleotide variant (synonymous variant) | Dilated cardiomyopathy 1G +2 more | |
| | LOC126806420, TTN +1 more (V30874fs +5 more) | Deletion (frameshift variant) | Dilated cardiomyopathy 1G +1 more | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +2 more | |
| | LOC126806420, TTN +1 more (R30864H +5 more) | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +3 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +3 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +4 more | |
| | | Single nucleotide variant (synonymous variant) | Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more | |
| | LOC126806420, TTN +1 more (P33415L +5 more) | Single nucleotide variant (missense variant) | Cardiovascular phenotype +6 more | |
| | LOC126806420, TTN +1 more (V30842fs +5 more) | Microsatellite (frameshift variant) | Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more | |
| | LOC126806420, TTN +1 more (C30841Y +5 more) | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2J +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Dilated cardiomyopathy 1G +1 more | |
| | LOC126806420, TTN +1 more (I33401fs +5 more) | Deletion (frameshift variant) | Dilated cardiomyopathy 1G +1 more | |
| | LOC126806420, TTN +1 more (T33402A +5 more) | Single nucleotide variant (missense variant) | Dilated cardiomyopathy 1G +1 more | |
| | | Single nucleotide variant (synonymous variant) | Dilated cardiomyopathy 1G +1 more | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +2 more | |
| | LOC126806420, TTN +1 more (K33398N +5 more) | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more | |
| | | Single nucleotide variant (synonymous variant) | Dilated cardiomyopathy 1G +2 more | |
| | | Single nucleotide variant (splice acceptor variant) | Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more | |
| | | Single nucleotide variant (intron variant) | Cardiovascular phenotype +2 more | |
| | | Deletion (intron variant) | Dilated cardiomyopathy 1G +1 more | |
| | | Duplication (intron variant) | Tibial muscular dystrophy +10 more | GConflicting classifications of pathogenicity |
| | | Deletion (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | Dilated cardiomyopathy 1G +1 more | |
| | | Insertion (intron variant) | Autosomal recessive limb-girdle muscular dystrophy type 2J +5 more | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more | |
| | | Deletion (intron variant) | Dilated cardiomyopathy 1G +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Dilated cardiomyopathy 1G +1 more | |
| | | Single nucleotide variant (intron variant) | Dilated cardiomyopathy 1G +1 more | |
| | | Insertion (splice donor variant) | Dilated cardiomyopathy 1G +1 more | |
| | | Deletion (nonsense) | Dilated cardiomyopathy 1G +1 more | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +3 more | GConflicting classifications of pathogenicity |
| | TTN-AS1, LOC126806420 +1 more (S33388N +5 more) | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2J +7 more | |
| | LOC126806420, TTN +1 more (S24515fs +5 more) | Deletion (frameshift variant) | Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more | |
| | LOC126806420, TTN +1 more (I24512fs +5 more) | Duplication (frameshift variant) | not provided +3 more | |
| | LOC126806420, TTN +1 more (E24506* +5 more) | Single nucleotide variant (nonsense) | Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more | |
| | LOC126806420, TTN +1 more (L33378R +5 more) | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more | |
| | | Single nucleotide variant (synonymous variant) | Dilated cardiomyopathy 1G +1 more | |
| | | Single nucleotide variant (synonymous variant) | Dilated cardiomyopathy 1G +1 more | |
| | LOC126806420, TTN +1 more (G33373S +5 more) | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2J +6 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +4 more | GConflicting classifications of pathogenicity |
| | LOC126806420, TTN +1 more (T24306fs +5 more) | Deletion (frameshift variant) | Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more | |
| | LOC126806420, TTN +1 more (Q33369* +5 more) | Single nucleotide variant (nonsense) | Dilated cardiomyopathy 1G +1 more | |
| | LOC126806420, TTN +1 more (V33366I +5 more) | Single nucleotide variant (missense variant) | Early-onset myopathy with fatal cardiomyopathy +7 more | |
| | LOC126806420, TTN +1 more (R33365Q +5 more) | Single nucleotide variant (missense variant) | Tibial muscular dystrophy +7 more | |
| | | Single nucleotide variant (synonymous variant) | Dilated cardiomyopathy 1G +1 more | |
| | LOC126806420, TTN +1 more (V33354L +5 more) | Single nucleotide variant (missense variant) | Dilated cardiomyopathy 1G +1 more | |
| | | Single nucleotide variant (synonymous variant) | Dilated cardiomyopathy 1G +1 more | |
| | | Single nucleotide variant (synonymous variant) | Cardiomyopathy +8 more | |
| | LOC126806420, TTN +1 more (I24288T +5 more) | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | TTN-AS1, LOC126806420 +1 more (T33350I +5 more) | Single nucleotide variant (missense variant) | Cardiovascular phenotype +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Dilated cardiomyopathy 1G +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not specified +2 more | |
| | LOC126806420, TTN +1 more (S31703fs +5 more) | Deletion (frameshift variant) | Autosomal recessive limb-girdle muscular dystrophy type 2J +2 more | |
| | LOC126806420, TTN +1 more (L31700fs +5 more) | Duplication (frameshift variant) | Dilated cardiomyopathy 1G +1 more | |
| | | Single nucleotide variant (synonymous variant) | Dilated cardiomyopathy 1G +1 more | |
| | | Single nucleotide variant (synonymous variant) | Dilated cardiomyopathy 1G +1 more | |
| | TTN-AS1, LOC126806420 +1 more (Q33340K +5 more) | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more | |
| | | Single nucleotide variant (synonymous variant) | Dilated cardiomyopathy 1G +2 more | GConflicting classifications of pathogenicity |
| | LOC126806420, TTN +1 more (C33331R +5 more) | Single nucleotide variant (missense variant) | Early-onset myopathy with fatal cardiomyopathy +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +2 more | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +2 more | |
| | | Single nucleotide variant (synonymous variant) | Tibial muscular dystrophy +8 more | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +2 more | |
| | LOC126806420, TTN +1 more (A31675T +5 more) | Single nucleotide variant (missense variant) | not specified +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Dilated cardiomyopathy 1G +2 more | |
| | LOC126806420, TTN +1 more (W24372* +5 more) | Single nucleotide variant (nonsense) | Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more | |
| | | Single nucleotide variant (synonymous variant) | Autosomal recessive limb-girdle muscular dystrophy type 2J +2 more | |
| | | Single nucleotide variant (synonymous variant) | Dilated cardiomyopathy 1G +2 more | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +2 more | |
| | LOC126806420, TTN +1 more (L24239fs +5 more) | Deletion (frameshift variant) | Dilated cardiomyopathy 1G +1 more | |
| | LOC126806420, TTN +1 more (K33305E +5 more) | Single nucleotide variant (missense variant) | Dilated cardiomyopathy 1G +1 more | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +2 more | |
| | | Single nucleotide variant (synonymous variant) | Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more | |
| | LOC126806420, TTN +1 more (E33301K +5 more) | Single nucleotide variant (missense variant) | not provided +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Dilated cardiomyopathy 1G +1 more | |
| | LOC126806420, TTN +1 more (D24227fs +5 more) | Deletion (frameshift variant) | Autosomal recessive limb-girdle muscular dystrophy type 2J +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Tibial muscular dystrophy +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Dilated cardiomyopathy 1G +1 more | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more | |
| | | Single nucleotide variant (splice donor variant) | Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more | |
| | LOC126806420, TTN +1 more (I33287M +5 more) | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more | |
| | | Insertion (nonsense) | Dilated cardiomyopathy 1G +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +3 more | GConflicting classifications of pathogenicity |
| | LOC126806420, TTN +1 more (V33279G +5 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Dilated cardiomyopathy 1G +1 more | |
| | LOC126806420, TTN +1 more (G33277E +5 more) | Single nucleotide variant (missense variant +1 more) | Tibial muscular dystrophy +10 more | GConflicting classifications of pathogenicity |