"Blueprint Genetics"[submitter] AND "NPHP4"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 867140	NM_015102.5(NPHP4):c.3718T>C (p.Cys1240Arg)	NPHP4 (C727R +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis +1 more	GUncertain significance
Select item 835062	NM_015102.5(NPHP4):c.3704G>A (p.Arg1235His)	NPHP4 (R1235H +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +4 more	GUncertain significance
Select item 867163	NM_015102.5(NPHP4):c.3644+1G>A	NPHP4	Single nucleotide variant (splice donor variant)	Retinal dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 501425	NM_015102.5(NPHP4):c.3364A>C (p.Thr1122Pro)	NPHP4 (T1122P +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis +5 more	GConflicting classifications of pathogenicity
Select item 867139	NM_015102.5(NPHP4):c.2444dup (p.Val816fs)	NPHP4 (V304fs +2 more)	Duplication (frameshift variant +1 more)	Retinal dystrophy	GLikely pathogenic
Select item 297830	NM_015102.5(NPHP4):c.257C>T (p.Pro86Leu)	NPHP4 (P86L)	Single nucleotide variant (5 prime UTR variant +3 more)	Senior-Loken syndrome 4 +6 more	GUncertain significance
Select item 695555	NM_015102.5(NPHP4):c.7G>T (p.Asp3Tyr)	NPHP4 (D3Y)	Single nucleotide variant (5 prime UTR variant +3 more)	Nephronophthisis 4 +3 more	GConflicting classifications of pathogenicity

ClinVar