Links from MedGen
Items: 5
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome | |
| | | Single nucleotide variant (missense variant) | Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome | |
| | | Single nucleotide variant (intron variant) | Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome | |
| | | Duplication (frameshift variant) | Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
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