| | LOC126806432, TTN (P4737R) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | TTN-related condition | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | LOC126806432, TTN (T4738A) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | LOC126806432, TTN (Q4866*) | Single nucleotide variant (nonsense +1 more) | not provided | |
| | LOC126806432, TTN (V4943I) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | LOC126806432, TTN (G5021R) | Single nucleotide variant (missense variant +1 more) | TTN-related condition | |
| | LOC126806432, TTN (G4876R) | Single nucleotide variant (missense variant +1 more) | TTN-related condition | |
| | LOC126806432, TTN (T4849K) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | LOC126806432, TTN (P4652fs) | Deletion (frameshift variant +1 more) | not provided | |
| | LOC126806432, TTN (R4705*) | Single nucleotide variant (nonsense +1 more) | Early-onset myopathy with fatal cardiomyopathy +6 more | |
| | LOC126806432, TTN (S4723P) | Single nucleotide variant (missense variant +1 more) | TTN-related condition | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | LOC126806432, TTN (H5019P) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | LOC126806432, TTN (E4897D) | Single nucleotide variant (intron variant +1 more) | not provided | |
| | LOC126806432, TTN (V4704D) | Single nucleotide variant (missense variant +1 more) | Myopathy, myofibrillar, 9, with early respiratory failure | |
| | LOC126806432, TTN (E4803K) | Single nucleotide variant (missense variant +1 more) | Tibial muscular dystrophy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Myopathy, myofibrillar, 9, with early respiratory failure +6 more | |
| | LOC126806432, TTN (S4982C) | Single nucleotide variant (intron variant +1 more) | not provided | |
| | LOC126806432, TTN (A4769fs) | Duplication (intron variant +1 more) | TTN-Related Disorders | |
| | LOC126806432, TTN (P5031S) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | LOC126806432, TTN (V5025I) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | LOC126806432, TTN (L4736F) | Single nucleotide variant (missense variant +1 more) | TTN-related condition +1 more | |
| | LOC126806432, TTN (V4688M) | Single nucleotide variant (missense variant +1 more) | Autosomal recessive limb-girdle muscular dystrophy type 2J +6 more | |
| | LOC126806432, TTN (Y5039C) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | LOC126806432, TTN (P4650R) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | LOC126806432, TTN (S4732T) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | LOC126806432, TTN (N4661D) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | LOC126806432, TTN (S4663P) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | LOC126806432, TTN (D5004G) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | LOC126806432, TTN (K4774R) | Single nucleotide variant (missense variant +1 more) | Autosomal recessive limb-girdle muscular dystrophy type 2J +6 more | |
| | LOC126806432, TTN (N4669T) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | LOC126806432, TTN (E4892K) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | LOC126806432, TTN (D5011A) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | LOC126806432, TTN (T4923A) | Single nucleotide variant (missense variant +1 more) | not specified +1 more | |
| | LOC126806432, TTN (S4872C) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | LOC126806432, TTN (R4705Q) | Single nucleotide variant (missense variant +1 more) | not specified +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified | |
| | LOC126806432, TTN (G4800E) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | LOC126806432, TTN (R4824fs) | Duplication (frameshift variant +1 more) | Primary dilated cardiomyopathy | |
| | LOC126806432, TTN (T5041R) | Single nucleotide variant (intron variant +1 more) | Hypertrophic cardiomyopathy 9 +7 more | |
| | LOC126806432, TTN (N4886D) | Single nucleotide variant (missense variant +1 more) | not specified +1 more | GConflicting classifications of pathogenicity |
| | LOC126806432, TTN (Q4817P) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | LOC126806432, TTN (Q4708E) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | LOC126806432, TTN (V4670I) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | TTN-related condition +2 more | |
| | | Single nucleotide variant (intron variant +1 more) | TTN-related condition +2 more | |
| | LOC126806432, TTN (H4660Y) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | LOC126806432, TTN (A4672V) | Single nucleotide variant (missense variant +1 more) | not provided | GConflicting classifications of pathogenicity |
| | LOC126806432, TTN (N4842K) | Single nucleotide variant (intron variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | LOC126806432, TTN (Q4846K) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Microsatellite (frameshift variant +1 more) | not provided | |
| | LOC126806432, TTN (E5044K) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | LOC126806432, TTN (I4971V) | Single nucleotide variant (missense variant +1 more) | Dilated cardiomyopathy 1G +6 more | |
| | LOC126806432, TTN (K5001M) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | LOC126806432, TTN (S4651G) | Single nucleotide variant (missense variant +1 more) | Dilated cardiomyopathy 1G +7 more | |
| | LOC126806432, TTN (I4693T) | Single nucleotide variant (intron variant +1 more) | not specified +1 more | GConflicting classifications of pathogenicity |
| | LOC126806432, TTN (D4747V) | Single nucleotide variant (missense variant +1 more) | TTN-related condition +8 more | |
| | | Single nucleotide variant (intron variant +1 more) | not specified +1 more | |
| | LOC126806432, TTN (H4765Q) | Single nucleotide variant (intron variant +1 more) | not provided +1 more | |
| | LOC126806432, TTN (Q4830R) | Single nucleotide variant (intron variant +1 more) | TTN-related condition +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified +6 more | |
| | LOC126806432, TTN (R4961C) | Single nucleotide variant (intron variant +1 more) | not specified | |
| | LOC126806432, TTN (D4968N) | Single nucleotide variant (missense variant +1 more) | not specified +1 more | GConflicting classifications of pathogenicity |
| | LOC126806432, TTN (M4938V) | Single nucleotide variant (intron variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | LOC126806432, TTN (T4936S) | Single nucleotide variant (intron variant +1 more) | Autosomal recessive limb-girdle muscular dystrophy type 2J +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant +1 more) | TTN-related condition +2 more | |
| | TTN, LOC126806432 (R4915H) | Single nucleotide variant (intron variant +1 more) | not specified | |
| | LOC126806432, TTN (I4851T) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | LOC126806432, TTN (C4831Y) | Single nucleotide variant (intron variant +1 more) | Autosomal recessive limb-girdle muscular dystrophy type 2J +3 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified +1 more | |
| | LOC126806432, TTN (L4776S) | Single nucleotide variant (intron variant +1 more) | not specified +1 more | GConflicting classifications of pathogenicity |
| | LOC126806432, TTN (C4753F) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (intron variant +1 more) | not specified +1 more | |
| | LOC126806432, TTN (I4676V) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | TTN, LOC126806432 (I4662V) | Single nucleotide variant (missense variant +1 more) | Early-onset myopathy with fatal cardiomyopathy +7 more | |
| | TTN, LOC126806432 (H4660Q) | Single nucleotide variant (intron variant +1 more) | not specified | |
| | LOC126806432, TTN (P4650S) | Single nucleotide variant (intron variant +1 more) | not specified +2 more | GConflicting classifications of pathogenicity |