| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | LOC130008916, LOC130008917 +4836 more | Copy number gain | See cases | |
| | TRD-GTC2-10, TRD-GTC2-9 +906 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | HNF1A, HNF1A-AS1 +786 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | CCDC60, LOC105370027 +6 more | Copy number gain | See cases | |
| | LOC105370027, TMEM233 (Y4H) | Single nucleotide variant (missense variant) | not specified | |
| | LOC105370027, TMEM233 (E29K) | Single nucleotide variant (missense variant) | not specified | |
| | LOC105370027, TMEM233 (M33T) | Single nucleotide variant (missense variant) | not specified | |
| | LOC105370027, TMEM233 (V43I) | Single nucleotide variant (missense variant) | not specified | |
| | LOC105370027, TMEM233 (A49V) | Single nucleotide variant (missense variant) | not specified | |
| | LOC105370027, TMEM233 (K83M) | Single nucleotide variant (missense variant) | not specified | |
| | LOC105370027, TMEM233 (V85L) | Single nucleotide variant (missense variant) | not specified | |
| | LOC105370027, TMEM233 (N108K) | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
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