ClinVar for MedGen (Select 413025) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2954456	NM_020366.4(RPGRIP1):c.853_854insGCCGAGTGCCTGCAATTGCAGGCGCGCGCCGCCACGCCTGACTGGTTTTCGTATTTTTTTGGTGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAAGCTCTTACATG (p.Glu285delinsGlyArgValProAlaIleAlaGlyAlaArgArgHisAlaTer)	RPGRIP1	Microsatellite (nonsense)	Cone-rod dystrophy 13 +1 more	GPathogenic
Select item 2953035	NM_020366.4(RPGRIP1):c.3240C>T (p.Asp1080=)	RPGRIP1	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 13 +1 more	GLikely benign
Select item 2952488	NM_020366.4(RPGRIP1):c.1078-5C>G	RPGRIP1	Single nucleotide variant (intron variant)	Cone-rod dystrophy 13 +1 more	GLikely benign
Select item 2950461	NM_020366.4(RPGRIP1):c.474G>A (p.Pro158=)	RPGRIP1	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 13 +1 more	GLikely benign
Select item 2950304	NM_020366.4(RPGRIP1):c.1935T>A (p.Ala645=)	RPGRIP1	Single nucleotide variant (synonymous variant +1 more)	Cone-rod dystrophy 13 +1 more	GLikely benign
Select item 2950301	NM_020366.4(RPGRIP1):c.1909C>T (p.Leu637=)	RPGRIP1	Single nucleotide variant (synonymous variant +1 more)	Cone-rod dystrophy 13 +1 more	GLikely benign
Select item 2950038	NM_020366.4(RPGRIP1):c.1309C>T (p.Gln437Ter)	RPGRIP1 (Q79* +1 more)	Single nucleotide variant (nonsense)	Cone-rod dystrophy 13 +1 more	GPathogenic
Select item 2947945	NM_020366.4(RPGRIP1):c.925C>G (p.Gln309Glu)	RPGRIP1 (Q309E)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 6 +1 more	GUncertain significance
Select item 2947740	NM_020366.4(RPGRIP1):c.2865T>G (p.Ser955=)	RPGRIP1	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 6 +1 more	GLikely benign
Select item 2947322	NM_020366.4(RPGRIP1):c.1785T>C (p.Tyr595=)	RPGRIP1	Single nucleotide variant (synonymous variant +1 more)	Leber congenital amaurosis 6 +1 more	GLikely benign
Select item 2946384	NM_020366.4(RPGRIP1):c.2172G>A (p.Val724=)	RPGRIP1	Single nucleotide variant (synonymous variant +1 more)	Leber congenital amaurosis 6 +1 more	GLikely benign
Select item 2946032	NM_020366.4(RPGRIP1):c.2895G>C (p.Gln965His)	RPGRIP1 (Q291H +4 more)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 6 +1 more	GUncertain significance
Select item 2945366	NM_020366.4(RPGRIP1):c.1107A>G (p.Lys369=)	RPGRIP1	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 6 +1 more	GLikely benign
Select item 2944408	NM_020366.4(RPGRIP1):c.1646del (p.Asn549fs)	RPGRIP1 (N549fs +2 more)	Deletion (frameshift variant)	Leber congenital amaurosis 6 +1 more	GPathogenic
Select item 2941876	NM_020366.4(RPGRIP1):c.1701C>G (p.Leu567=)	RPGRIP1	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 13 +1 more	GLikely benign
Select item 2941811	NM_020366.4(RPGRIP1):c.172_173del (p.Met58fs)	RPGRIP1 (M58fs)	Deletion (frameshift variant)	Cone-rod dystrophy 13 +1 more	GPathogenic
Select item 2941700	NM_020366.4(RPGRIP1):c.3511del (p.Ile1171fs)	RPGRIP1 (I813fs +4 more)	Deletion (frameshift variant)	Cone-rod dystrophy 13 +1 more	GPathogenic
Select item 2941606	NM_020366.4(RPGRIP1):c.2313C>T (p.Ala771=)	RPGRIP1	Single nucleotide variant (synonymous variant +1 more)	Leber congenital amaurosis 6 +1 more	GLikely benign
Select item 2941541	NM_020366.4(RPGRIP1):c.2367G>A (p.Glu789=)	RPGRIP1	Single nucleotide variant (synonymous variant +1 more)	Leber congenital amaurosis 6 +1 more	GUncertain significance
Select item 2941540	NM_020366.4(RPGRIP1):c.664_665del (p.Asn222fs)	RPGRIP1 (N222fs)	Deletion (frameshift variant)	Leber congenital amaurosis 6 +1 more	GPathogenic
Select item 2941042	NM_020366.4(RPGRIP1):c.24dup (p.Ser9fs)	RPGRIP1 (S9fs)	Duplication (frameshift variant)	Leber congenital amaurosis 6 +1 more	GPathogenic
Select item 2940658	NM_020366.4(RPGRIP1):c.3768G>A (p.Leu1256=)	RPGRIP1	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 6 +1 more	GLikely benign
Select item 2940643	NM_020366.4(RPGRIP1):c.1227A>G (p.Gln409=)	RPGRIP1	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 6 +1 more	GLikely benign
Select item 2940435	NM_020366.4(RPGRIP1):c.1467+11C>G	RPGRIP1	Single nucleotide variant (intron variant)	Leber congenital amaurosis 6 +1 more	GLikely benign
Select item 2940210	NM_020366.4(RPGRIP1):c.931-18A>C	RPGRIP1	Single nucleotide variant (intron variant)	Leber congenital amaurosis 6 +1 more	GLikely benign
Select item 2939457	NM_020366.4(RPGRIP1):c.3778A>G (p.Ile1260Val)	RPGRIP1 (I421V +4 more)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 6 +1 more	GUncertain significance
Select item 2938290	NM_020366.4(RPGRIP1):c.3180G>A (p.Glu1060=)	RPGRIP1	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 6 +1 more	GLikely benign
Select item 2937258	NM_020366.4(RPGRIP1):c.3100-1G>A	RPGRIP1	Single nucleotide variant (splice acceptor variant +1 more)	Leber congenital amaurosis 6 +1 more	GLikely pathogenic
Select item 2935821	NM_020366.4(RPGRIP1):c.3843T>C (p.Thr1281=)	RPGRIP1	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 6 +1 more	GLikely benign
Select item 2935716	NM_020366.4(RPGRIP1):c.3714G>A (p.Glu1238=)	RPGRIP1	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 6 +1 more	GLikely benign
Select item 2935232	NM_020366.4(RPGRIP1):c.3533-2A>G	RPGRIP1	Single nucleotide variant (splice acceptor variant)	Leber congenital amaurosis 6 +1 more	GLikely pathogenic
Select item 2935209	NM_020366.4(RPGRIP1):c.3484C>T (p.Leu1162=)	RPGRIP1	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 6 +1 more	GLikely benign
Select item 2934752	NM_020366.4(RPGRIP1):c.3748+11T>A	RPGRIP1	Single nucleotide variant (intron variant)	Leber congenital amaurosis 6 +1 more	GLikely benign
Select item 2933537	NM_020366.4(RPGRIP1):c.218+9A>G	RPGRIP1	Single nucleotide variant (intron variant)	Leber congenital amaurosis 6 +1 more	GLikely benign
Select item 2932652	NM_020366.4(RPGRIP1):c.1653T>C (p.Asn551=)	RPGRIP1	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 6 +1 more	GLikely benign
Select item 2932477	NM_020366.4(RPGRIP1):c.1590C>T (p.Arg530=)	RPGRIP1	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 6 +1 more	GLikely benign
Select item 2930690	NM_020366.4(RPGRIP1):c.2361A>G (p.Glu787=)	RPGRIP1	Single nucleotide variant (synonymous variant +1 more)	Leber congenital amaurosis 6 +1 more	GLikely benign
Select item 2930186	NM_020366.4(RPGRIP1):c.604_611del (p.Ser202fs)	RPGRIP1 (S202fs)	Deletion (frameshift variant)	Leber congenital amaurosis 6 +1 more	GPathogenic
Select item 2929275	NM_020366.4(RPGRIP1):c.136T>C (p.Leu46=)	RPGRIP1	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 6 +1 more	GLikely benign
Select item 2927210	NM_020366.4(RPGRIP1):c.1087_1090del (p.Arg363fs)	RPGRIP1 (R363fs)	Microsatellite (frameshift variant)	Cone-rod dystrophy 13 +1 more	GPathogenic
Select item 2924681	NM_020366.4(RPGRIP1):c.2236G>A (p.Gly746Arg)	RPGRIP1 (G388R +1 more)	Single nucleotide variant (missense variant +1 more)	Leber congenital amaurosis 6 +1 more	GPathogenic
Select item 2921942	NM_020366.4(RPGRIP1):c.3308T>C (p.Val1103Ala)	RPGRIP1 (V745A +4 more)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 6 +1 more	GUncertain significance
Select item 2921543	NM_020366.4(RPGRIP1):c.3450C>T (p.Asp1150=)	RPGRIP1	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 6 +1 more	GLikely benign
Select item 2921542	NM_020366.4(RPGRIP1):c.2706C>T (p.Ile902=)	RPGRIP1	Single nucleotide variant (synonymous variant +1 more)	Leber congenital amaurosis 6 +1 more	GLikely benign
Select item 2579253	GRCh38/hg38 14q11.2(chr14:21287774-21294830)x3	RPGRIP1	Copy number gain	Cone-rod dystrophy 13	GLikely pathogenic
Select item 2431544	NC_000014.9:g.(21329937_21330486)del	RPGRIP1	Deletion	Cone-rod dystrophy 13	GPathogenic
Select item 2426545	NC_000014.8:g.(?_21769105)_(21794352_?)dup	RPGRIP1	Duplication	Cone-rod dystrophy 13 +1 more	GLikely pathogenic
Select item 2426544	NC_000014.8:g.(?_21762816)_(21762988_?)dup	RPGRIP1	Duplication	Cone-rod dystrophy 13 +1 more	GPathogenic
Select item 2426543	NC_000014.8:g.(?_21671278)_(22005055_?)dup	CHD8, HNRNPC +6 more	Duplication	Cone-rod dystrophy 13 +1 more	GUncertain significance
Select item 2426542	NC_000014.8:g.(?_21762816)_(21795986_?)del	RPGRIP1	Deletion	Cone-rod dystrophy 13 +1 more	GPathogenic
Select item 2426541	NC_000014.8:g.(?_21785835)_(21796806_?)del	RPGRIP1	Deletion	Cone-rod dystrophy 13 +1 more	GPathogenic
Select item 2426540	NC_000014.8:g.(?_21819243)_(21819375_?)del	RPGRIP1	Deletion	Leber congenital amaurosis 6 +1 more	GLikely pathogenic
Select item 2426539	NC_000014.8:g.(?_21796563)_(21796806_?)del	RPGRIP1	Deletion	Cone-rod dystrophy 13 +1 more	GUncertain significance
Select item 2424647	NM_020366.4(RPGRIP1):c.2224G>A (p.Gly742Arg)	RPGRIP1 (G384R +1 more)	Single nucleotide variant (missense variant +1 more)	Cone-rod dystrophy 13 +1 more	GUncertain significance
Select item 2421965	NM_020366.4(RPGRIP1):c.265C>A (p.Arg89=)	RPGRIP1	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 13 +1 more	GLikely benign
Select item 2421059	NM_020366.4(RPGRIP1):c.2331C>A (p.Thr777=)	RPGRIP1	Single nucleotide variant (synonymous variant +1 more)	Cone-rod dystrophy 13 +1 more	GLikely benign
Select item 2417015	NM_020366.4(RPGRIP1):c.2307G>A (p.Lys769=)	RPGRIP1	Single nucleotide variant (synonymous variant +1 more)	Cone-rod dystrophy 13 +1 more	GLikely benign
Select item 2414917	NM_020366.4(RPGRIP1):c.3075C>T (p.Asn1025=)	RPGRIP1	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 13 +1 more	GLikely benign
Select item 2414455	NM_020366.4(RPGRIP1):c.403A>G (p.Ser135Gly)	RPGRIP1 (S135G)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 13 +1 more	GUncertain significance
Select item 2413333	NM_020366.4(RPGRIP1):c.3733G>A (p.Glu1245Lys)	RPGRIP1 (E1245K +4 more)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 13 +1 more	GUncertain significance
Select item 2201369	NM_020366.4(RPGRIP1):c.2425T>C (p.Cys809Arg)	RPGRIP1 (C451R +1 more)	Single nucleotide variant (missense variant +1 more)	Cone-rod dystrophy 13 +2 more	GUncertain significance
Select item 2199754	NM_020366.4(RPGRIP1):c.2617C>G (p.His873Asp)	RPGRIP1 (H873D +1 more)	Single nucleotide variant (intron variant +1 more)	Cone-rod dystrophy 13 +1 more	GUncertain significance
Select item 2197120	NM_020366.4(RPGRIP1):c.2348G>A (p.Arg783Gln)	RPGRIP1 (R425Q +1 more)	Single nucleotide variant (missense variant +1 more)	Leber congenital amaurosis 6 +1 more	GUncertain significance
Select item 2193762	NM_020366.4(RPGRIP1):c.2441G>A (p.Arg814Gln)	RPGRIP1 (R814Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2193752	NM_020366.4(RPGRIP1):c.1746T>C (p.His582=)	RPGRIP1	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 13 +1 more	GLikely benign
Select item 2192855	NM_020366.4(RPGRIP1):c.1711C>G (p.Arg571Gly)	RPGRIP1 (R213G +2 more)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 13 +1 more	GUncertain significance
Select item 2192239	NM_020366.4(RPGRIP1):c.2721C>A (p.Asn907Lys)	RPGRIP1 (N907K +4 more)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 13 +1 more	GUncertain significance
Select item 2192093	NM_020366.4(RPGRIP1):c.75A>G (p.Pro25=)	RPGRIP1	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 6 +1 more	GLikely benign
Select item 2191461	NM_020366.4(RPGRIP1):c.3340-19T>C	RPGRIP1	Single nucleotide variant (intron variant)	Cone-rod dystrophy 13 +1 more	GLikely benign
Select item 2181385	NM_020366.4(RPGRIP1):c.3748+17T>C	RPGRIP1	Single nucleotide variant (intron variant)	Leber congenital amaurosis 6 +1 more	GLikely benign
Select item 2180372	NM_020366.4(RPGRIP1):c.3094_3095insT (p.Pro1032fs)	RPGRIP1 (P1032fs +4 more)	Insertion (frameshift variant)	Leber congenital amaurosis 6 +1 more	GPathogenic
Select item 2178555	NM_020366.4(RPGRIP1):c.1919C>T (p.Ala640Val)	RPGRIP1 (A282V +1 more)	Single nucleotide variant (missense variant +1 more)	Cone-rod dystrophy 13 +1 more	GUncertain significance
Select item 2176087	NM_020366.4(RPGRIP1):c.1800G>A (p.Leu600=)	RPGRIP1	Single nucleotide variant (synonymous variant +1 more)	Cone-rod dystrophy 13 +1 more	GLikely benign
Select item 2175977	NM_020366.4(RPGRIP1):c.3339+9A>G	RPGRIP1	Single nucleotide variant (intron variant)	Cone-rod dystrophy 13 +1 more	GLikely benign
Select item 2174640	NM_020366.4(RPGRIP1):c.1858C>T (p.Leu620=)	RPGRIP1	Single nucleotide variant (synonymous variant +1 more)	Leber congenital amaurosis 6 +1 more	GLikely benign
Select item 2169698	NM_020366.4(RPGRIP1):c.1197C>A (p.Asn399Lys)	RPGRIP1 (N399K +1 more)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 6 +1 more	GUncertain significance
Select item 2168500	NM_020366.4(RPGRIP1):c.1741A>G (p.Ser581Gly)	RPGRIP1 (S223G +2 more)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 6 +1 more	GUncertain significance
Select item 2167156	NM_020366.4(RPGRIP1):c.1713dup (p.Ile572fs)	RPGRIP1 (I48fs +2 more)	Duplication (frameshift variant)	Leber congenital amaurosis 6 +1 more	GPathogenic
Select item 2165199	NM_020366.4(RPGRIP1):c.111C>A (p.Pro37=)	RPGRIP1	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 6 +1 more	GLikely benign
Select item 2165152	NM_020366.4(RPGRIP1):c.2215+10G>A	RPGRIP1	Single nucleotide variant (intron variant)	Leber congenital amaurosis 6 +1 more	GLikely benign
Select item 2165066	NM_020366.4(RPGRIP1):c.3660G>T (p.Lys1220Asn)	RPGRIP1 (K582N +4 more)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 6 +1 more	GUncertain significance
Select item 2161619	NM_020366.4(RPGRIP1):c.181A>G (p.Lys61Glu)	RPGRIP1 (K61E)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 13 +1 more	GUncertain significance
Select item 2160366	NM_020366.4(RPGRIP1):c.322G>A (p.Gly108Arg)	RPGRIP1 (G108R)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 13 +1 more	GUncertain significance
Select item 2159871	NM_020366.4(RPGRIP1):c.3312A>G (p.Pro1104=)	RPGRIP1	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 6 +1 more	GLikely benign
Select item 2158740	NM_020366.4(RPGRIP1):c.1464C>G (p.Ile488Met)	RPGRIP1 (I130M +1 more)	Single nucleotide variant (missense variant +1 more)	Leber congenital amaurosis 6 +1 more	GUncertain significance
Select item 2158394	NM_020366.4(RPGRIP1):c.490+23dup	RPGRIP1	Duplication (intron variant)	Leber congenital amaurosis 6 +1 more	GBenign
Select item 2158062	NM_020366.4(RPGRIP1):c.2216-15C>G	RPGRIP1	Single nucleotide variant (intron variant)	Leber congenital amaurosis 6 +1 more	GUncertain significance
Select item 2157895	NM_020366.4(RPGRIP1):c.2264G>A (p.Arg755His)	RPGRIP1 (R397H +1 more)	Single nucleotide variant (missense variant +1 more)	Cone-rod dystrophy 13 +1 more	GUncertain significance
Select item 2156261	NM_020366.4(RPGRIP1):c.2948A>T (p.Lys983Met)	RPGRIP1 (K309M +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2154362	NM_020366.4(RPGRIP1):c.2410G>A (p.Glu804Lys)	RPGRIP1 (E446K +1 more)	Single nucleotide variant (missense variant +1 more)	Leber congenital amaurosis 6 +1 more	GUncertain significance
Select item 2153817	NM_020366.4(RPGRIP1):c.2551G>A (p.Ala851Thr)	RPGRIP1 (A493T +1 more)	Single nucleotide variant (missense variant +1 more)	Cone-rod dystrophy 13 +1 more	GUncertain significance
Select item 2152439	NM_020366.4(RPGRIP1):c.141G>A (p.Glu47=)	RPGRIP1	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 6 +1 more	GLikely benign
Select item 2152200	NM_020366.4(RPGRIP1):c.1220dup (p.Gln408fs)	RPGRIP1 (Q50fs +1 more)	Duplication (frameshift variant)	Leber congenital amaurosis 6 +1 more	GPathogenic
Select item 2149560	NM_020366.4(RPGRIP1):c.3617A>T (p.His1206Leu)	RPGRIP1 (H848L +4 more)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 6 +1 more	GUncertain significance
Select item 2147288	NM_020366.4(RPGRIP1):c.2829G>A (p.Lys943=)	RPGRIP1	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 6 +1 more	GLikely benign
Select item 2143308	NM_020366.4(RPGRIP1):c.405C>T (p.Ser135=)	RPGRIP1	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 6 +1 more	GLikely benign
Select item 2141251	NM_020366.4(RPGRIP1):c.1468-15C>A	RPGRIP1	Single nucleotide variant (intron variant)	Leber congenital amaurosis 6 +1 more	GLikely benign
Select item 2140612	NM_020366.4(RPGRIP1):c.2434C>T (p.Arg812Trp)	RPGRIP1 (R454W +1 more)	Single nucleotide variant (missense variant +1 more)	Cone-rod dystrophy 13 +1 more	GUncertain significance
Select item 2139273	NM_020366.4(RPGRIP1):c.3571C>A (p.Arg1191=)	RPGRIP1	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 13 +2 more	GLikely benign
Select item 2137549	NM_020366.4(RPGRIP1):c.1763-2A>G	RPGRIP1	Single nucleotide variant (splice acceptor variant +1 more)	Cone-rod dystrophy 13 +1 more	GLikely pathogenic

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