| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129935164, LOC129935165 +697 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC126806416, LOC126806417 +591 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Duplication | Dystonia 16 | |
| | | Single nucleotide variant (intron variant) | TTN-related disorder | |
| | LOC126806420, LOC126806421 +12 more | Deletion | Dilated cardiomyopathy 1G | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | Myopathy, myofibrillar, 9, with early respiratory failure +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Tibial muscular dystrophy +4 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Tibial muscular dystrophy +4 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Early-onset myopathy with fatal cardiomyopathy +5 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Early-onset myopathy with fatal cardiomyopathy +4 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal recessive limb-girdle muscular dystrophy type 2J +5 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal recessive limb-girdle muscular dystrophy type 2J +4 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal recessive limb-girdle muscular dystrophy type 2J +4 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Tibial muscular dystrophy +4 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Early-onset myopathy with fatal cardiomyopathy +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Early-onset myopathy with fatal cardiomyopathy +4 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Early-onset myopathy with fatal cardiomyopathy +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Myopathy, myofibrillar, 9, with early respiratory failure +4 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Early-onset myopathy with fatal cardiomyopathy +4 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal recessive limb-girdle muscular dystrophy type 2J +4 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal recessive limb-girdle muscular dystrophy type 2J +5 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Myopathy, myofibrillar, 9, with early respiratory failure +4 more | |
| | | Duplication (3 prime UTR variant) | Limb-girdle muscular dystrophy, recessive +7 more | |
| | | Deletion (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | Dilated cardiomyopathy 1G +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | Myopathy, myofibrillar, 9, with early respiratory failure +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Dilated cardiomyopathy 1G +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Dilated cardiomyopathy 1G +1 more | |
| | | Single nucleotide variant (stop lost) | not provided | |
| | TTN, TTN-AS1 (I26926fs +5 more) | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | TTN, TTN-AS1 (R34348* +5 more) | Single nucleotide variant (nonsense) | Tibial muscular dystrophy +5 more | |
| | | Single nucleotide variant (synonymous variant) | Tibial muscular dystrophy +8 more | GConflicting classifications of pathogenicity |
| | TTN, TTN-AS1 (H27047R +5 more) | Single nucleotide variant (missense variant) | Dilated cardiomyopathy 1G +1 more | |
| | TTN, TTN-AS1 (I35986T +5 more) | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | TTN, TTN-AS1 (I35986V +5 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Dilated cardiomyopathy 1G +2 more | |
| | | Single nucleotide variant (synonymous variant) | Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more | |
| | TTN, TTN-AS1 (T26918P +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 | |
| | TTN, TTN-AS1 (G27105E +5 more) | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more | |
| | TTN, TTN-AS1 (E26911* +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 +1 more | |
| | TTN, TTN-AS1 (G26909R +5 more) | Single nucleotide variant (missense variant) | not provided | |
| | TTN, TTN-AS1 (S35972I +5 more) | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more | |
| | TTN, TTN-AS1 (L27098fs +5 more) | Deletion (frameshift variant) | Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more | |
| | TTN, TTN-AS1 (L27098Q +5 more) | Single nucleotide variant (missense variant) | Dilated cardiomyopathy 1G +1 more | |
| | TTN, TTN-AS1 (T33402I +5 more) | Single nucleotide variant (missense variant) | Dilated cardiomyopathy 1G +1 more | |
| | TTN, TTN-AS1 (L26903R +5 more) | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more | |
| | TTN, TTN-AS1 (L33400P +5 more) | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more | |
| | TTN, TTN-AS1 (G35967E +5 more) | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | Dilated cardiomyopathy 1G +1 more | |
| | TTN, TTN-AS1 (G33398D +5 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Deletion (inframe_indel) | Tibial muscular dystrophy | |
| | | Single nucleotide variant (synonymous variant) | Dilated cardiomyopathy 1G +2 more | |
| | TTN, TTN-AS1 (D33397G +5 more) | Single nucleotide variant (missense variant) | not provided | |
| | TTN, TTN-AS1 (Q33396* +5 more) | Single nucleotide variant (nonsense) | not specified | |
| | TTN, TTN-AS1 (K27023fs +5 more) | Deletion (frameshift variant) | Autosomal recessive limb-girdle muscular dystrophy type 2J +8 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | TTN, TTN-AS1 (V35961I +5 more) | Single nucleotide variant (missense variant) | Dilated cardiomyopathy 1G +2 more | |
| | | Single nucleotide variant (synonymous variant) | Cardiomyopathy +2 more | |
| | TTN, TTN-AS1 (M26894V +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 | |
| | TTN, TTN-AS1 (I26893N +5 more) | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2J | |
| | TTN, TTN-AS1 (I26892M +5 more) | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +2 more | |
| | TTN, TTN-AS1 (I27084T +5 more) | Single nucleotide variant (missense variant) | Dilated cardiomyopathy 1G +1 more | |
| | | Deletion (inframe_deletion) | Dilated cardiomyopathy 1G +1 more | |
| | TTN, TTN-AS1 (I26892F +5 more) | Single nucleotide variant (missense variant) | Dilated cardiomyopathy 1G +6 more | |
| | TTN-AS1, TTN (L27016fs +5 more) | Deletion (frameshift variant) | Centronuclear myopathy | |
| | TTN, TTN-AS1 (L34315P +5 more) | Single nucleotide variant (missense variant) | Dilated cardiomyopathy 1G +2 more | |
| | TTN, TTN-AS1 (T35955N +5 more) | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more | |
| | TTN, TTN-AS1 (T35955I +5 more) | Single nucleotide variant (missense variant) | Dilated cardiomyopathy 1G +1 more | |
| | TTN, TTN-AS1 (L34312R +5 more) | Single nucleotide variant (missense variant) | Tibial muscular dystrophy +6 more | |
| | TTN, TTN-AS1 (D26886N +5 more) | Single nucleotide variant (missense variant) | not provided | |
| | TTN, TTN-AS1 (D35951Y +5 more) | Single nucleotide variant (missense variant) | Dilated cardiomyopathy 1G +1 more | |
| | | Duplication (inframe_insertion) | Dilated cardiomyopathy 1G +1 more | |
| | TTN, TTN-AS1 (E27075D +5 more) | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more | |
| | | Deletion (inframe_deletion) | Dilated cardiomyopathy 1G +1 more | |
| | TTN, TTN-AS1 (I34306S +5 more) | Single nucleotide variant (missense variant) | Dilated cardiomyopathy 1G +2 more | |
| | TTN, TTN-AS1 (I35947T +5 more) | Single nucleotide variant (missense variant) | Dilated cardiomyopathy 1G +2 more | |
| | TTN-AS1, TTN (I33379N +5 more) | Single nucleotide variant (missense variant) | Tibial muscular dystrophy +2 more | GPathogenic/Likely pathogenic |
| | TTN-AS1, TTN (I35947V +5 more) | Single nucleotide variant (missense variant) | Dilated cardiomyopathy 1G +1 more | |
| | | Single nucleotide variant (synonymous variant) | Dilated cardiomyopathy 1G +1 more | |
| | TTN, TTN-AS1 (H33378P +5 more) | Single nucleotide variant (missense variant) | Tibial muscular dystrophy | |
| | TTN, TTN-AS1 (H27073Y +5 more) | Single nucleotide variant (missense variant) | Dilated cardiomyopathy 1G +1 more | |
| | TTN, TTN-AS1 (F35945L +5 more) | Single nucleotide variant (missense variant) | Dilated cardiomyopathy 1G +1 more | |
| | TTN, TTN-AS1 (F27072I +5 more) | Single nucleotide variant (missense variant) | Cardiomyopathy +3 more | |