| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Galloway-Mowat syndrome 6 +2 more | |
| | | Single nucleotide variant (intron variant) | Galloway-Mowat syndrome 6 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Microcephaly, growth deficiency, seizures, and brain malformations +2 more | |
| | | Single nucleotide variant (intron variant) | Microcephaly, growth deficiency, seizures, and brain malformations +2 more | |
| | | Single nucleotide variant (missense variant +2 more) | Microcephaly, growth deficiency, seizures, and brain malformations +2 more | |
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