| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (3 prime UTR variant) | Radial aplasia-thrombocytopenia syndrome +2 more | GConflicting classifications of pathogenicity |
| | LIX1L-AS1, LOC126805851
+1 more | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity; other |
| | ANKRD34A, ANKRD35
+12 more | Copy number loss | Radial aplasia-thrombocytopenia syndrome | |
| | | Copy number gain | Chromosome 1q21.1 duplication syndrome | |
| | | Copy number gain | Chromosome 1q21.1 duplication syndrome | |
Click to view in NCBI Gene