| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | ARPC4, ARPC4-TTLL3 (D99E +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | ARPC4, ARPC4-TTLL3 (D113N +2 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | ARPC4, ARPC4-TTLL3 (R158C +2 more) | Single nucleotide variant (missense variant +1 more) | Developmental delay, language impairment, and ocular abnormalities +1 more | GConflicting classifications of pathogenicity |
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