"Center for Pediatric Genomic Medicine, Children's Mercy Hospital and - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 218850	NM_153240.5(NPHP3):c.3913C>T (p.Arg1305Cys)	NPHP3, NPHP3-ACAD11 (R1305C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +6 more	GBenign/Likely benign
Select item 167378	NM_153240.5(NPHP3):c.3550G>A (p.Ala1184Thr)	NPHP3-ACAD11, NPHP3 (A1184T)	Single nucleotide variant (non-coding transcript variant +1 more)	Bardet-Biedl syndrome +6 more	GConflicting classifications of pathogenicity
Select item 96510	NM_153240.5(NPHP3):c.1986G>A (p.Arg662=)	NPHP3, NPHP3-ACAD11	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis +5 more	GBenign/Likely benign
Select item 377316	NM_153240.5(NPHP3):c.1538T>C (p.Leu513Pro)	NPHP3, NPHP3-ACAD11 (L513P)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 96508	NM_153240.5(NPHP3):c.1157A>G (p.Asn386Ser)	NPHP3, NPHP3-ACAD11 (N386S)	Single nucleotide variant (non-coding transcript variant +1 more)	NPHP3-related Meckel-like syndrome +7 more	GConflicting classifications of pathogenicity
Select item 96509	NM_153240.5(NPHP3):c.154G>A (p.Ala52Thr)	LOC129937586, NPHP3 +2 more (A52T)	Single nucleotide variant (non-coding transcript variant +1 more)	NPHP3-related Meckel-like syndrome +6 more	GConflicting classifications of pathogenicity

ClinVar