| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Insertion (frameshift variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Primary hyperoxaluria type 3 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Primary hyperoxaluria type 3 +1 more | |
| | | Single nucleotide variant (missense variant) | Primary hyperoxaluria type 3 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Primary hyperoxaluria type 3 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Primary hyperoxaluria type 3 +1 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (inframe_deletion) | HOGA1-related disorder +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided | |
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