"Revvity Omics, Revvity"[submitter] AND "NPHP4"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1323371	NM_015102.5(NPHP4):c.3316-2A>G	NPHP4	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 1421980	NM_015102.5(NPHP4):c.3271G>A (p.Val1091Met)	NPHP4 (V1091M +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis +1 more	GUncertain significance
Select item 2434417	NM_015102.5(NPHP4):c.3220G>C (p.Ala1074Pro)	NPHP4 (A1074P +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1323373	NM_015102.5(NPHP4):c.3214C>T (p.Gln1072Ter)	NPHP4 (Q1072* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 297821	NM_015102.5(NPHP4):c.1408C>T (p.Arg470Trp)	NPHP4 (R470W)	Single nucleotide variant (synonymous variant +2 more)	Nephronophthisis 4 +5 more	GConflicting classifications of pathogenicity
Select item 2434416	NM_015102.5(NPHP4):c.1064C>T (p.Ala355Val)	NPHP4 (A355V)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1323372	NM_015102.5(NPHP4):c.669del (p.Glu223fs)	NPHP4 (E223fs)	Deletion (5 prime UTR variant +2 more)	not provided	GPathogenic
Select item 1324817	NM_015102.5(NPHP4):c.518-2A>G	NPHP4	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GLikely pathogenic

ClinVar