| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (3 prime UTR variant +3 more) | Mucopolysaccharidosis +7 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Epileptic encephalopathy | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | JAKMIP1, KIAA0232
+90 more | Copy number loss | 4p partial monosomy syndrome | |
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