Table 2.

Renal anomalies in humans associated with mutations in NOTCH2.

Human Disease	Genetic Mutation	Kidney Defect	References
Alagille Syndrome	NOTCH2 p.Cys444Tyr (C444Y)/ECD	Small congenital cystic kidney disease	[90]
	NOTCH2 c.5930−1G→A/ICD	Tubular acidosis and dysplastic kidneys	[90]
	NOTCH2 p.Cys373Arg/ECD	Vesico-ureteric reflux	[91]
	NOTCH2 p.Arg2003X/ICD	Echogenicity of kidneys	[91]
CAKUT	NOTCH2 p.Tyr1186Asn/ECD	Vesicoureteral reflux	[92]
	NOTCH2 p.Arg2256His (R2256H)/ICD	Small dysplastic kidney, ureterovesical junction obstruction	[92]
	NOTCH2 p.Arg2298Trp/ICD	Hydronephrosis	[92]
Hajdu–Cheney syndrome	NOTCH2 (Gln2389X)/ICD	Polycystic kidneys	[93]