Links from MedGen
Items: 3
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Microsatellite (inframe_deletion +1 more) | Hereditary sensory and autonomic neuropathy type 1 +7 more | GPathogenic/Likely pathogenic |
| | TTN, TTN-AS1 (E25514fs +5 more) | Deletion (frameshift variant) | Cardiovascular phenotype +12 more | GConflicting classifications of pathogenicity |
| | TTN, TTN-AS1 (Q34238* +5 more) | Single nucleotide variant (nonsense) | Autosomal recessive limb-girdle muscular dystrophy type 2J +14 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene