| | | Single nucleotide variant (missense variant) | Primary dilated cardiomyopathy +13 more | |
| | | Single nucleotide variant (missense variant) | Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly +3 more | |
| | | Single nucleotide variant (missense variant) | Actin accumulation myopathy | |
| | | Single nucleotide variant (missense variant) | Congenital myopathy 2c, severe infantile, autosomal dominant | |
| | | Single nucleotide variant (missense variant) | Myopathy, congenital, with structured cores and z-line abnormalities | GPathogenic/Likely pathogenic |
| | NEB, RIF1 (S6182L +2 more) | Single nucleotide variant (missense variant) | Nemaline myopathy 2 +1 more | GConflicting classifications of pathogenicity |
| | | 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 | |
| | | Single nucleotide variant (3 prime UTR variant) | Dilated cardiomyopathy 1G +4 more | GConflicting classifications of pathogenicity |
| | | 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 |
| | TTN, TTN-AS1 (R34348* +5 more) | Single nucleotide variant (nonsense) | Tibial muscular dystrophy +5 more | |
| | | Single nucleotide variant (synonymous variant) | Early-onset myopathy with fatal cardiomyopathy +8 more | GConflicting classifications of pathogenicity |
| | TTN, TTN-AS1 (K27023fs +5 more) | Deletion (frameshift variant) | Autosomal recessive titinopathy +8 more | |
| | TTN, TTN-AS1 (I26892F +5 more) | Single nucleotide variant (missense variant) | Dilated cardiomyopathy 1G +6 more | |
| | TTN, TTN-AS1 (L34312R +5 more) | Single nucleotide variant (missense variant) | Tibial muscular dystrophy +6 more | |
| | TTN, TTN-AS1 (G34292R +5 more) | Single nucleotide variant (missense variant) | Cardiovascular phenotype +6 more | |
| | | Indel (missense variant) | Dilated cardiomyopathy 1G +6 more | |
| | TTN-AS1, TTN (V35928E +5 more) | Single nucleotide variant (missense variant) | Myopathy, myofibrillar, 9, with early respiratory failure +6 more | |
| | | Single nucleotide variant (synonymous variant) | Dilated cardiomyopathy 1G +7 more | GConflicting classifications of pathogenicity |
| | TTN, TTN-AS1 (E33342K +5 more) | Single nucleotide variant (missense variant) | Dilated cardiomyopathy 1G +6 more | |
| | TTN, TTN-AS1 (I26843T +5 more) | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2J +6 more | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +8 more | |
| | | Single nucleotide variant (synonymous variant) | Tibial muscular dystrophy +8 more | |
| | | Duplication (intron variant) | Autosomal recessive limb-girdle muscular dystrophy type 2J +5 more | |
| | | Single nucleotide variant (intron variant) | not specified +5 more | |
| | TTN, TTN-AS1 (S35869G +5 more) | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2J +7 more | GConflicting classifications of pathogenicity |
| | TTN, TTN-AS1 (Q26795* +5 more) | Single nucleotide variant (nonsense) | Autosomal recessive limb-girdle muscular dystrophy type 2J +7 more | GPathogenic/Likely pathogenic |
| | TTN-AS1, TTN (M35859T +5 more) | Single nucleotide variant (missense variant) | Cardiovascular phenotype +9 more | GConflicting classifications of pathogenicity |
| | TTN, TTN-AS1 (S35855I +5 more) | Single nucleotide variant (missense variant) | Dilated cardiomyopathy 1G +5 more | |
| | TTN, TTN-AS1 (M26778T +5 more) | Single nucleotide variant (missense variant) | Hypertrophic cardiomyopathy 9 +5 more | |
| | TTN, TTN-AS1 (S35817L +5 more) | Single nucleotide variant (missense variant) | Cardiomyopathy +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided +8 more | GConflicting classifications of pathogenicity |
| | TTN, TTN-AS1 (P33230S +5 more) | Single nucleotide variant (missense variant) | not provided +6 more | |
| | | Single nucleotide variant (intron variant) | Myopathy, myofibrillar, 9, with early respiratory failure +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | not provided +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Cardiovascular phenotype +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +7 more | |
| | TTN, TTN-AS1 (C26718F +5 more) | Single nucleotide variant (missense variant) | Myopathy, myofibrillar, 9, with early respiratory failure +2 more | |
| | TTN, TTN-AS1 (R34139H +5 more) | Single nucleotide variant (missense variant) | Tibial muscular dystrophy +7 more | GConflicting classifications of pathogenicity |
| | TTN, TTN-AS1 (A35764S +5 more) | Single nucleotide variant (missense variant) | Dilated cardiomyopathy 1G +6 more | |
| | TTN, TTN-AS1 (V35756A +5 more) | Single nucleotide variant (missense variant) | not provided +7 more | |
| | | Single nucleotide variant (synonymous variant) | Tibial muscular dystrophy +6 more | GConflicting classifications of pathogenicity |
| | TTN, TTN-AS1 (P34061L +5 more) | Single nucleotide variant (missense variant) | Cardiovascular phenotype +9 more | GConflicting classifications of pathogenicity |
| | TTN, TTN-AS1 (E33129Q +5 more) | Single nucleotide variant (missense variant) | Dilated cardiomyopathy 1G +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +7 more | |
| | TTN, TTN-AS1 (L35694V +5 more) | Single nucleotide variant (missense variant) | Dilated cardiomyopathy 1G +5 more | GConflicting classifications of pathogenicity |
| | TTN, TTN-AS1 (Q33098E +5 more) | Single nucleotide variant (missense variant) | not provided +5 more | |
| | TTN, TTN-AS1 (Y35653D +5 more) | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2J +5 more | |
| | TTN, TTN-AS1 (R35652Q +5 more) | Single nucleotide variant (missense variant) | Cardiovascular phenotype +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Early-onset myopathy with fatal cardiomyopathy +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Autosomal recessive limb-girdle muscular dystrophy type 2J +8 more | GConflicting classifications of pathogenicity |
| | TTN, TTN-AS1 (L26700P +5 more) | Single nucleotide variant (missense variant) | Dilated cardiomyopathy 1G +5 more | |
| | TTN, TTN-AS1 (V26571M +5 more) | Single nucleotide variant (missense variant) | Cardiovascular phenotype +6 more | |
| | TTN-AS1, TTN (L33058V +5 more) | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2J +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +8 more | |
| | TTN, TTN-AS1 (S35613A +5 more) | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2J +8 more | GConflicting classifications of pathogenicity |
| | TTN, TTN-AS1 (K26545E +5 more) | Single nucleotide variant (missense variant) | Dilated cardiomyopathy 1G +6 more | |
| | TTN, TTN-AS1 (A33039V +5 more) | Single nucleotide variant (missense variant) | Dilated cardiomyopathy 1G +8 more | GConflicting classifications of pathogenicity |
| | TTN, TTN-AS1 (E35601K +5 more) | Single nucleotide variant (missense variant) | Myopathy, myofibrillar, 9, with early respiratory failure +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +7 more | |
| | TTN-AS1, TTN (T35596I +5 more) | Single nucleotide variant (missense variant) | Cardiovascular phenotype +8 more | GConflicting classifications of pathogenicity |
| | TTN, TTN-AS1 (H26525R +5 more) | Single nucleotide variant (missense variant) | Dilated cardiomyopathy 1G +6 more | |
| | TTN, TTN-AS1 (E33007K +5 more) | Single nucleotide variant (missense variant) | Early-onset myopathy with fatal cardiomyopathy +6 more | |
| | TTN, TTN-AS1 (E32991Q +5 more) | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2J +10 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Autosomal recessive limb-girdle muscular dystrophy type 2J +8 more | |
| | TTN, TTN-AS1 (A26479fs +5 more) | Deletion (frameshift variant) | Primary dilated cardiomyopathy +6 more | GPathogenic/Likely pathogenic |
| | TTN, TTN-AS1 (I35540T +5 more) | Single nucleotide variant (missense variant) | Cardiovascular phenotype +8 more | |
| | TTN, TTN-AS1 (E26462V +5 more) | Indel (missense variant) | Cardiovascular phenotype +7 more | GConflicting classifications of pathogenicity |
| | TTN, TTN-AS1 (E35527V +5 more) | Single nucleotide variant (missense variant) | Cardiovascular phenotype +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +7 more | GConflicting classifications of pathogenicity |
| | TTN, TTN-AS1 (K35513E +5 more) | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +9 more | |
| | TTN, TTN-AS1 (K32913R +5 more) | Single nucleotide variant (missense variant) | Cardiomyopathy +8 more | GConflicting classifications of pathogenicity |
| | TTN, TTN-AS1 (L35468H +5 more) | Single nucleotide variant (missense variant) | Dilated cardiomyopathy 1G +5 more | |
| | TTN, TTN-AS1 (G35463A +5 more) | Single nucleotide variant (missense variant) | Cardiovascular phenotype +7 more | |
| | TTN, TTN-AS1 (R32880Q +5 more) | Single nucleotide variant (missense variant) | Early-onset myopathy with fatal cardiomyopathy +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Early-onset myopathy with fatal cardiomyopathy +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not specified +7 more | |
| | TTN, TTN-AS1 (V33782F +5 more) | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2J +6 more | |
| | TTN, TTN-AS1 (P35420S +5 more) | Single nucleotide variant (missense variant) | Dilated cardiomyopathy 1G +5 more | |
| | LOC129935182, TTN +1 more (K35385T +5 more) | Single nucleotide variant (missense variant) | Dilated cardiomyopathy 1G +5 more | |
| | LOC129935182, TTN +1 more (E35356K +5 more) | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2J +5 more | |
| | LOC129935182, TTN +1 more (T26410fs +5 more) | Deletion (frameshift variant) | Dilated cardiomyopathy 1G +6 more | |