"Center for Genomic Medicine, King Faisal Specialist Hospital and Rese - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1056125	NM_015102.5(NPHP4):c.3706G>A (p.Val1236Met)	NPHP4 (V1236M +2 more)	Single nucleotide variant (missense variant +1 more)	NPHP4-related disorder +2 more	GUncertain significance
Select item 500646	NM_015102.5(NPHP4):c.3611C>T (p.Pro1204Leu)	NPHP4 (P1204L +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis 4 +3 more	GUncertain significance
Select item 592639	NM_015102.5(NPHP4):c.3131G>A (p.Arg1044His)	NPHP4 (R1044H +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis 4 +4 more	GUncertain significance
Select item 194764	NM_015102.5(NPHP4):c.2257G>A (p.Asp753Asn)	NPHP4 (D753N +2 more)	Single nucleotide variant (missense variant +1 more)	Kidney disorder +5 more	GConflicting classifications of pathogenicity
Select item 3401	NM_015102.5(NPHP4):c.2044C>T (p.Arg682Ter)	NPHP4 (R682* +2 more)	Single nucleotide variant (nonsense +1 more)	Nephronophthisis +1 more	GPathogenic
Select item 3065864	NM_015102.5(NPHP4):c.1897G>A (p.Glu633Lys)	NPHP4 (E120K +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis 4	GUncertain significance
Select item 3065000	NM_015102.5(NPHP4):c.673G>T (p.Gly225Cys)	NPHP4 (G225C)	Single nucleotide variant (5 prime UTR variant +2 more)	Nephronophthisis 4	GUncertain significance

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