| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | GBA1, LOC106627981 (E365K +2 more) | Single nucleotide variant (missense variant) | Gaucher disease perinatal lethal +13 more | GBenign/Likely benign; risk factor |
| | | Single nucleotide variant (missense variant) | Roussy-Lévy syndrome +4 more | |
| | | Single nucleotide variant (missense variant) | Arteriovenous malformation +10 more | |
| | | Single nucleotide variant (missense variant +1 more) | Cerebral arteriovenous malformation +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Meckel syndrome, type 3 +23 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Meckel-Gruber syndrome +26 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Cerebral arteriovenous malformation +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not specified +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Mental deterioration +8 more | GPathogenic/Likely pathogenic |
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