"Genome Diagnostics Laboratory, University Medical Center Utrecht"[sub - 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)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 198579	NM_020366.4(RPGRIP1):c.907-25AAT[3]	RPGRIP1	Microsatellite (intron variant)	not specified +3 more	GBenign
Select item 4987	NM_020366.4(RPGRIP1):c.1639G>T (p.Ala547Ser)	RPGRIP1 (A547S +2 more)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 13 +5 more	GBenign/Likely benign
Select item 775009	NM_020366.4(RPGRIP1):c.2100G>T (p.Arg700=)	RPGRIP1	Single nucleotide variant (synonymous variant +1 more)	Cone-rod dystrophy 13 +1 more	GBenign
Select item 285038	NM_020366.4(RPGRIP1):c.2284C>T (p.Leu762=)	RPGRIP1	Single nucleotide variant (synonymous variant +1 more)	Cone-rod dystrophy 13 +3 more	GConflicting classifications of pathogenicity
Select item 4988	NM_020366.4(RPGRIP1):c.3341A>G (p.Asp1114Gly)	RPGRIP1 (D1114G +4 more)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 6 +4 more	GBenign/Likely benign

ClinVar