| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities | |
| | | Single nucleotide variant (splice acceptor variant) | Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities | |
| | | Single nucleotide variant (nonsense +1 more) | Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities | |
| | | Single nucleotide variant (missense variant +1 more) | Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities | |
| | | Duplication (nonsense +1 more) | Neurodevelopmental delay | |
| | | Single nucleotide variant (nonsense +1 more) | Congenital anomaly of kidney and urinary tract | |
| | | Duplication (frameshift variant +1 more) | Congenital anomaly of kidney and urinary tract | |
| | | Single nucleotide variant (nonsense +1 more) | Congenital anomaly of kidney and urinary tract | |
| | | Deletion (frameshift variant +1 more) | Congenital anomaly of kidney and urinary tract | |
| | | Duplication (nonsense +1 more) | Congenital anomaly of kidney and urinary tract | |
| | | Single nucleotide variant (nonsense +1 more) | Congenital anomaly of kidney and urinary tract | |
| | | Single nucleotide variant (nonsense +2 more) | Congenital anomaly of kidney and urinary tract | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Duplication | Large for gestational age | |
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