"Revvity Omics, Revvity"[submitter] AND "RPGRIP1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2435469	NM_020366.4(RPGRIP1):c.473C>G (p.Pro158Arg)	RPGRIP1 (P158R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435470	NM_020366.4(RPGRIP1):c.800G>T (p.Arg267Leu)	RPGRIP1 (R267L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 312785	NM_020366.4(RPGRIP1):c.1059G>C (p.Leu353Phe)	RPGRIP1 (L353F)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 6 +3 more	GUncertain significance
Select item 99809	NM_020366.4(RPGRIP1):c.1107del (p.Glu370fs)	RPGRIP1 (E370fs)	Deletion (frameshift variant)	Cone-rod dystrophy 13 +2 more	GPathogenic
Select item 812424	NM_020366.4(RPGRIP1):c.1615_1624del (p.Glu539fs)	RPGRIP1 (E539fs +2 more)	Deletion (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 1325014	NM_020366.4(RPGRIP1):c.2640dup (p.Glu881fs)	RPGRIP1 (E523fs +1 more)	Duplication (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 381684	NM_020366.4(RPGRIP1):c.3565C>T (p.Arg1189Ter)	RPGRIP1 (R1189* +4 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 1052335	NM_020366.4(RPGRIP1):c.3773C>T (p.Thr1258Ile)	RPGRIP1 (T1258I +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance

ClinVar