| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | ITPKB-related disorder | |
| | | Single nucleotide variant (missense variant) | ITPKB-related disorder +1 more | |
| | | Single nucleotide variant (missense variant) | ITPKB-related disorder | |
| | LOC129932672, ITPKB (G51R) | Single nucleotide variant (missense variant) | not specified +1 more | GConflicting classifications of pathogenicity |
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