| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC126805673, SLC9A1 (P475R) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | LOC126805673, SLC9A1 (A460D) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (splice acceptor variant) | not provided | |
Click to view in NCBI Gene