| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Meacham syndrome +6 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | SLC10A2-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | Aortic valve disease 2 | |
| | | Single nucleotide variant (missense variant +3 more) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary cancer-predisposing syndrome | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | DYRK1A-related intellectual disability syndrome | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Vasculitis due to ADA2 deficiency | |
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