Links from MedGen
Items: 3
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Falls +1 more | |
| | | Microsatellite (inframe_deletion +1 more) | Hereditary sensory and autonomic neuropathy type 1 +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Collagen 6-related myopathy +10 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene