| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Copy number loss | See cases | |
| | LOC110120630, LOC111429626 +608 more | Copy number gain | See cases | |
| | ARPC4, ARPC4-TTLL3 +48 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (nonsense +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Candidiasis, familial, 9 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified +2 more | |
| | ARPC4, ARPC4-TTLL3 +39 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
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