| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Seckel syndrome 1 +4 more | GConflicting classifications of pathogenicity |
| | | Insertion (frameshift variant +1 more) | not provided | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome +3 more | |
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