| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | ARFGEF1, CSPP1 (V945I +7 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | ARFGEF1, CSPP1 (S1114L +7 more) | Single nucleotide variant (missense variant) | Joubert syndrome 21 | |
| | ARFGEF1, CSPP1 (R1006W +7 more) | Single nucleotide variant (missense variant) | Joubert syndrome 21 | |
| | | Single nucleotide variant (missense variant +1 more) | Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures | |
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