ClinVar for MedGen (Select 344245) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3767346	NM_020366.4(RPGRIP1):c.817A>T (p.Lys273Ter)	RPGRIP1 (K273*)	Single nucleotide variant (nonsense)	Leber congenital amaurosis 6	GLikely pathogenic
Select item 3762687	NM_020366.4(RPGRIP1):c.1549T>C (p.Leu517=)	RPGRIP1	Single nucleotide variant (synonymous variant +1 more)	Leber congenital amaurosis 6 +1 more	GLikely benign
Select item 3761870	NM_020366.4(RPGRIP1):c.2216-10T>C	RPGRIP1	Single nucleotide variant (intron variant)	Leber congenital amaurosis 6 +1 more	GLikely benign
Select item 3761761	NM_020366.4(RPGRIP1):c.3617+18A>G	RPGRIP1	Single nucleotide variant (intron variant)	Leber congenital amaurosis 6 +1 more	GLikely benign
Select item 3761447	NM_020366.4(RPGRIP1):c.207T>C (p.Asp69=)	RPGRIP1	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 6 +1 more	GLikely benign
Select item 3761310	NM_020366.4(RPGRIP1):c.414C>T (p.Arg138=)	RPGRIP1	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 6 +1 more	GLikely benign
Select item 3760926	NM_020366.4(RPGRIP1):c.1151+19T>A	RPGRIP1	Single nucleotide variant (intron variant)	Leber congenital amaurosis 6 +1 more	GLikely benign
Select item 3760094	NM_020366.4(RPGRIP1):c.1941T>C (p.Asp647=)	RPGRIP1	Single nucleotide variant (synonymous variant +1 more)	Leber congenital amaurosis 6 +1 more	GLikely benign
Select item 3759584	NM_020366.4(RPGRIP1):c.3512_3513insG (p.Ile1171fs)	RPGRIP1 (I1171fs +4 more)	Insertion (frameshift variant)	Leber congenital amaurosis 6 +1 more	GPathogenic
Select item 3759526	NM_020366.4(RPGRIP1):c.399_408dup (p.Arg137fs)	RPGRIP1 (R137fs)	Duplication (frameshift variant)	Leber congenital amaurosis 6 +1 more	GPathogenic
Select item 3759480	NM_020366.4(RPGRIP1):c.1468-6C>T	RPGRIP1	Single nucleotide variant (intron variant)	Leber congenital amaurosis 6 +1 more	GLikely benign
Select item 3758799	NM_020366.4(RPGRIP1):c.3336G>A (p.Lys1112=)	RPGRIP1	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 6 +1 more	GLikely benign
Select item 3758389	NM_020366.4(RPGRIP1):c.1467+7G>C	RPGRIP1	Single nucleotide variant (intron variant)	Leber congenital amaurosis 6 +1 more	GLikely benign
Select item 3757583	NM_020366.4(RPGRIP1):c.1530A>G (p.Val510=)	RPGRIP1	Single nucleotide variant (synonymous variant +1 more)	Leber congenital amaurosis 6 +1 more	GLikely benign
Select item 3757479	NM_020366.4(RPGRIP1):c.2441G>C (p.Arg814Pro)	RPGRIP1 (R456P +1 more)	Single nucleotide variant (missense variant +1 more)	Leber congenital amaurosis 6 +1 more	GUncertain significance
Select item 3757400	NM_020366.4(RPGRIP1):c.1401A>C (p.Gln467His)	RPGRIP1 (Q109H +1 more)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 6 +1 more	GUncertain significance
Select item 3757182	NM_020366.4(RPGRIP1):c.1851T>C (p.Asp617=)	RPGRIP1	Single nucleotide variant (synonymous variant +1 more)	Leber congenital amaurosis 6 +1 more	GLikely benign
Select item 3756898	NM_020366.4(RPGRIP1):c.111C>T (p.Pro37=)	RPGRIP1	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 6 +1 more	GLikely benign
Select item 3756671	NM_020366.4(RPGRIP1):c.85+14del	RPGRIP1	Deletion (intron variant)	Leber congenital amaurosis 6 +1 more	GLikely benign
Select item 3756125	NM_020366.4(RPGRIP1):c.963C>T (p.Ala321=)	RPGRIP1	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 6 +1 more	GLikely benign
Select item 3755919	NM_020366.4(RPGRIP1):c.1209G>C (p.Ala403=)	RPGRIP1	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 6 +1 more	GLikely benign
Select item 3755433	NM_020366.4(RPGRIP1):c.1743C>T (p.Ser581=)	RPGRIP1	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 6 +1 more	GLikely benign
Select item 3754622	NM_020366.4(RPGRIP1):c.1060C>T (p.Gln354Ter)	RPGRIP1 (Q354*)	Single nucleotide variant (nonsense)	Leber congenital amaurosis 6 +1 more	GPathogenic
Select item 3752869	NM_020366.4(RPGRIP1):c.2215+9C>T	RPGRIP1	Single nucleotide variant (intron variant)	Leber congenital amaurosis 6 +1 more	GLikely benign
Select item 3752045	NM_020366.4(RPGRIP1):c.2896-12C>G	RPGRIP1	Single nucleotide variant (intron variant)	Leber congenital amaurosis 6 +1 more	GLikely benign
Select item 3751550	NM_020366.4(RPGRIP1):c.2215+2T>C	RPGRIP1	Single nucleotide variant (splice donor variant +1 more)	Leber congenital amaurosis 6 +1 more	GLikely pathogenic
Select item 3751351	NM_020366.4(RPGRIP1):c.422C>T (p.Pro141Leu)	RPGRIP1 (P141L)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 6 +1 more	GUncertain significance
Select item 3750575	NM_020366.4(RPGRIP1):c.1151+18G>A	RPGRIP1	Single nucleotide variant (intron variant)	Leber congenital amaurosis 6 +1 more	GLikely benign
Select item 3750295	NM_020366.4(RPGRIP1):c.1078-17G>A	RPGRIP1	Single nucleotide variant (intron variant)	Leber congenital amaurosis 6 +1 more	GLikely benign
Select item 3750253	NM_020366.4(RPGRIP1):c.1763-8C>T	RPGRIP1	Single nucleotide variant (intron variant)	Leber congenital amaurosis 6 +1 more	GLikely benign
Select item 3750230	NM_020366.4(RPGRIP1):c.3618-5T>C	RPGRIP1	Single nucleotide variant (intron variant)	Leber congenital amaurosis 6 +1 more	GLikely benign
Select item 3749591	NM_020366.4(RPGRIP1):c.228C>G (p.Thr76=)	RPGRIP1	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 6 +1 more	GLikely benign
Select item 3749564	NM_020366.4(RPGRIP1):c.3156C>A (p.Gly1052=)	RPGRIP1	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 6 +1 more	GLikely benign
Select item 3748727	NM_020366.4(RPGRIP1):c.587+13C>T	RPGRIP1	Single nucleotide variant (intron variant)	Leber congenital amaurosis 6 +1 more	GLikely benign
Select item 3748522	NM_020366.4(RPGRIP1):c.2216-15C>T	RPGRIP1	Single nucleotide variant (intron variant)	Leber congenital amaurosis 6 +1 more	GLikely benign
Select item 3576493	NM_020366.4(RPGRIP1):c.2795dup (p.Pro932_Glu933insTer)	RPGRIP1	Duplication (frameshift variant)	Leber congenital amaurosis 6 +1 more	GLikely pathogenic
Select item 3576492	NM_020366.4(RPGRIP1):c.2386del (p.Glu796fs)	RPGRIP1 (E438fs +1 more)	Deletion (frameshift variant +1 more)	Leber congenital amaurosis 6 +1 more	GLikely pathogenic
Select item 3576491	NM_020366.4(RPGRIP1):c.1612-2A>G	RPGRIP1	Single nucleotide variant (splice acceptor variant)	Leber congenital amaurosis 6 +1 more	GLikely pathogenic
Select item 3576490	NM_020366.4(RPGRIP1):c.1583_1596del (p.Leu528fs)	RPGRIP1 (L170fs +2 more)	Deletion (frameshift variant)	Leber congenital amaurosis 6 +1 more	GLikely pathogenic
Select item 3576489	NM_020366.4(RPGRIP1):c.1468-128T>G	RPGRIP1	Single nucleotide variant (intron variant)	Leber congenital amaurosis 6 +1 more	GPathogenic
Select item 3576488	NM_020366.4(RPGRIP1):c.410dup (p.Arg138fs)	RPGRIP1 (R138fs)	Duplication (frameshift variant)	Leber congenital amaurosis 6 +1 more	GLikely pathogenic
Select item 3576487	NM_020366.4(RPGRIP1):c.358C>T (p.Gln120Ter)	RPGRIP1 (Q120*)	Single nucleotide variant (nonsense)	Leber congenital amaurosis 6 +1 more	GPathogenic
Select item 3576486	NM_020366.4(RPGRIP1):c.326G>A (p.Trp109Ter)	RPGRIP1 (W109*)	Single nucleotide variant (nonsense)	Leber congenital amaurosis 6 +1 more	GLikely pathogenic
Select item 3255607	NM_020366.4(RPGRIP1):c.420del (p.Gln140fs)	RPGRIP1 (Q140fs)	Deletion (frameshift variant)	Leber congenital amaurosis 6	GPathogenic
Select item 3249836	NM_020366.4(RPGRIP1):c.2021C>A (p.Pro674His)	RPGRIP1 (P316H +1 more)	Single nucleotide variant (missense variant +1 more)	Leber congenital amaurosis 6 +2 more	GLikely pathogenic
Select item 3243983	NC_000014.8:g.(?_21766946)_(21770647_?)del	RPGRIP1	Deletion	Leber congenital amaurosis 6 +1 more	GLikely pathogenic
Select item 3243982	NC_000014.8:g.(?_21792757)_(21819375_?)dup	RPGRIP1	Duplication	Leber congenital amaurosis 6 +1 more	GUncertain significance
Select item 3243981	NC_000014.8:g.(?_21756136)_(21780685_?)dup	RPGRIP1	Duplication	Leber congenital amaurosis 6 +1 more	GUncertain significance
Select item 3243980	NC_000014.8:g.(?_21762977)_(21770303_?)del	RPGRIP1	Deletion	Leber congenital amaurosis 6 +1 more	GPathogenic
Select item 3243979	NC_000014.8:g.(?_21793972)_(21794928_?)del	RPGRIP1	Deletion	Leber congenital amaurosis 6 +1 more	GPathogenic
Select item 3243978	NC_000014.8:g.(?_21785835)_(21786029_?)del	RPGRIP1	Deletion	Leber congenital amaurosis 6 +1 more	GPathogenic
Select item 3064867	NM_020366.4(RPGRIP1):c.487del (p.Arg163fs)	RPGRIP1 (R163fs)	Deletion (frameshift variant)	Leber congenital amaurosis 6	GLikely pathogenic
Select item 2954456	NM_020366.4(RPGRIP1):c.853_854insGCCGAGTGCCTGCAATTGCAGGCGCGCGCCGCCACGCCTGACTGGTTTTCGTATTTTTTTGGTGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAAGCTCTTACATG (p.Glu285delinsGlyArgValProAlaIleAlaGlyAlaArgArgHisAlaTer)	RPGRIP1	Microsatellite (nonsense)	Leber congenital amaurosis 6 +1 more	GPathogenic
Select item 2953035	NM_020366.4(RPGRIP1):c.3240C>T (p.Asp1080=)	RPGRIP1	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 6 +1 more	GLikely benign
Select item 2952488	NM_020366.4(RPGRIP1):c.1078-5C>G	RPGRIP1	Single nucleotide variant (intron variant)	Leber congenital amaurosis 6 +1 more	GLikely benign
Select item 2950461	NM_020366.4(RPGRIP1):c.474G>A (p.Pro158=)	RPGRIP1	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 6 +1 more	GLikely benign
Select item 2950304	NM_020366.4(RPGRIP1):c.1935T>A (p.Ala645=)	RPGRIP1	Single nucleotide variant (synonymous variant +1 more)	Leber congenital amaurosis 6 +1 more	GLikely benign
Select item 2950301	NM_020366.4(RPGRIP1):c.1909C>T (p.Leu637=)	RPGRIP1	Single nucleotide variant (synonymous variant +1 more)	Leber congenital amaurosis 6 +1 more	GLikely benign
Select item 2950038	NM_020366.4(RPGRIP1):c.1309C>T (p.Gln437Ter)	RPGRIP1 (Q79* +1 more)	Single nucleotide variant (nonsense)	Leber congenital amaurosis 6 +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)	Leber congenital amaurosis 6 +1 more	GLikely benign
Select item 2941811	NM_020366.4(RPGRIP1):c.172_173del (p.Met58fs)	RPGRIP1 (M58fs)	Deletion (frameshift variant)	Leber congenital amaurosis 6 +1 more	GPathogenic
Select item 2941700	NM_020366.4(RPGRIP1):c.3511del (p.Ile1171fs)	RPGRIP1 (I813fs +4 more)	Deletion (frameshift variant)	Leber congenital amaurosis 6 +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)	Leber congenital amaurosis 6 +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/Likely pathogenic
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 2691560	NM_020366.4(RPGRIP1):c.1216del (p.Leu406fs)	RPGRIP1 (L406fs +1 more)	Deletion (frameshift variant)	Leber congenital amaurosis +2 more	GPathogenic
Select item 2574659	NM_020366.4:c.1077+1_3100-1dup	RPGRIP1	Duplication	Leber congenital amaurosis 6	GUncertain significance
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

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