Links from MedGen
Items: 10
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy 100 | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Developmental and epileptic encephalopathy 100 | |
| | FBXO28, LOC129932579 (A5K) | Indel (missense variant +1 more) | Developmental and epileptic encephalopathy 100 | |
| | | Indel (3 prime UTR variant +2 more) | Developmental and epileptic encephalopathy 100 | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Developmental and epileptic encephalopathy 100 | |
| | | Deletion (3 prime UTR variant +2 more) | Developmental and epileptic encephalopathy 100 | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Developmental and epileptic encephalopathy 100 | |
| | | Single nucleotide variant (missense variant +1 more) | Developmental and epileptic encephalopathy 100 | |
| | | Indel (3 prime UTR variant +2 more) | Developmental and epileptic encephalopathy 100 | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
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