| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC126806429, TTN (N6412H +2 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | LOC126806429, TTN (P5465S +2 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | LOC126806429, TTN (R6369Q +2 more) | Single nucleotide variant (missense variant +1 more) | Autosomal recessive limb-girdle muscular dystrophy type 2J +6 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene