| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +3 more) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (missense variant) | Combined immunodeficiency due to ZAP70 deficiency | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | SLC35A1-congenital disorder of glycosylation | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Pityriasis rubra pilaris +1 more | |
| | | Single nucleotide variant (missense variant) | not specified | |
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