| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | LOC130006222, LOC130006223 +282 more | Copy number loss | See cases | |
| | LOC130006168, LOC130006169 +212 more | Copy number gain | See cases | |
| | RBM14-RBM4, RBM4 (R164Q +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | RBM14-RBM4, RBM4 (A213T +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | RBM14-RBM4, RBM4 (S275F +1 more) | Single nucleotide variant (missense variant +1 more) | Myoepithelial tumor | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not provided | |
| | | Duplication | Aicardi-Goutieres syndrome 3 +1 more | |
| | | Copy number gain | not provided | |
| | | Copy number gain | MISSED ABORTION | |
| | | Copy number loss | not provided | |
| | | Deletion | Intellectual disability | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
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