Links from MedGen
Items: 9
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Autosomal recessive Kenny-Caffey syndrome | |
| | | Single nucleotide variant (intron variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Encephalopathy, progressive, with amyotrophy and optic atrophy +3 more | |
| | | Deletion (frameshift variant +1 more) | Hypoparathyroidism-retardation-dysmorphism syndrome +1 more | |
| | | Single nucleotide variant (splice donor variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Duplication (splice donor variant +1 more) | Autosomal recessive Kenny-Caffey syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant +1 more) | Autosomal recessive Kenny-Caffey syndrome +2 more | GPathogenic/Likely pathogenic |
| | | Deletion (inframe_deletion +1 more) | Encephalopathy, progressive, with amyotrophy and optic atrophy +2 more | GPathogenic/Likely pathogenic |
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