Links from MedGen
Items: 8
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (frameshift variant) | Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 | |
| | | Deletion (frameshift variant) | Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 | |
| | | Single nucleotide variant (missense variant) | Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset | |
| | | Single nucleotide variant (missense variant) | Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset | |
| | | Duplication (frameshift variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | CLTC, PTRH2 (A90fs +1 more) | Deletion (frameshift variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 +1 more | |
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