| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | ITPR1, LOC126806590 (G2487R +3 more) | Single nucleotide variant (missense variant) | Gillespie syndrome +4 more | GConflicting classifications of pathogenicity |
| | ITPR1, LOC126806590 (G2539R +3 more) | Single nucleotide variant (missense variant) | not provided +3 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene