"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "NPHP1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 330729	NM_001128178.3(NPHP1):c.1522G>C (p.Val508Leu)	NPHP1 (V564L +4 more)	Single nucleotide variant (missense variant)	Nephronophthisis +5 more	GUncertain significance
Select item 2682743	NM_001128178.3(NPHP1):c.1513T>C (p.Ser505Pro)	NPHP1 (S442P +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 198410	NM_001128178.3(NPHP1):c.635AAG[5] (p.Glu215dup)	NPHP1	Microsatellite (inframe_insertion)	Nephronophthisis +6 more	GUncertain significance
Select item 594808	NM_001128178.3(NPHP1):c.460G>A (p.Gly154Ser)	NPHP1 (G154S +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 167377	NM_001128178.3(NPHP1):c.232T>C (p.Tyr78His)	NPHP1 (Y78H)	Single nucleotide variant (missense variant +1 more)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 1409630	NM_001128178.3(NPHP1):c.104A>G (p.Glu35Gly)	NPHP1 (E35G)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity

ClinVar