| | | Single nucleotide variant (nonsense) | Cerebral calcification +3 more | |
| | | Single nucleotide variant (nonsense) | Cerebral calcification +3 more | |
| | | Deletion (frameshift variant) | Cerebral calcification +3 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Cerebral calcification +3 more | |
| | | Single nucleotide variant (nonsense) | Cerebral calcification +3 more | |
| | | Single nucleotide variant (nonsense) | Cerebral calcification +3 more | |
| | | Microsatellite (frameshift variant) | Cerebral calcification +3 more | |
| | | Deletion (frameshift variant) | Cerebral calcification +3 more | |
| | | Single nucleotide variant (splice donor variant) | Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities +4 more | |
| | | Single nucleotide variant (missense variant) | Cerebral calcification +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Interstitial pneumonitis +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Rajab interstitial lung disease with brain calcifications +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Interstitial pneumonitis +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Interstitial pneumonitis +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Interstitial pneumonitis +3 more | |
| | | Translocation | Cerebral calcification +12 more | |
| | | Duplication (frameshift variant +1 more) | Global developmental delay +2 more | |
| | | Single nucleotide variant (missense variant) | Brain small vessel disease 1 with or without ocular anomalies +3 more | |