"Fulgent Genetics, Fulgent Genetics"[submitter] AND "RPGRIP1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 195356	NM_020366.4(RPGRIP1):c.95T>A (p.Met32Lys)	RPGRIP1 (M32K)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 6 +2 more	GConflicting classifications of pathogenicity
Select item 283795	NM_020366.4(RPGRIP1):c.1753C>T (p.Pro585Ser)	RPGRIP1 (P585S +2 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 585296	NM_020366.4(RPGRIP1):c.2440C>T (p.Arg814Ter)	RPGRIP1 (R814* +1 more)	Single nucleotide variant (nonsense +1 more)	Cone-rod dystrophy 13 +2 more	GPathogenic
Select item 501219	NM_020366.4(RPGRIP1):c.2554C>T (p.Arg852Ter)	RPGRIP1 (R852* +1 more)	Single nucleotide variant (nonsense +1 more)	Retinal dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 972225	NM_020366.4(RPGRIP1):c.3402_3404del (p.Met1134_Ser1135delinsIle)	RPGRIP1	Deletion (inframe_indel)	Cone-rod dystrophy 13 +1 more	GUncertain significance
Select item 707346	NM_020366.4(RPGRIP1):c.3447C>T (p.Tyr1149=)	RPGRIP1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign

ClinVar