Links from MedGen
Items: 5
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Sensory neuropathy +7 more | |
| | | Indel (missense variant +1 more) | Generalized hypotonia +6 more | |
| | | Deletion (frameshift variant) | Charcot-Marie-Tooth disease type 2 +8 more | |
| | | Single nucleotide variant (missense variant) | Bartter disease type 1 +9 more | |
| | | Single nucleotide variant (missense variant) | Bethlem myopathy 1A +8 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene