ClinVar for MedGen (Select 462436) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2953678	NM_000329.3(RPE65):c.557A>T (p.Asp186Val)	RPE65 (D186V +2 more)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 2 +1 more	GUncertain significance
Select item 2953660	NM_000329.3(RPE65):c.382G>A (p.Val128Ile)	RPE65 (V36I +2 more)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 2 +1 more	GUncertain significance
Select item 2953467	NM_000329.3(RPE65):c.1513C>T (p.Leu505=)	RPE65	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 20 +1 more	GLikely benign
Select item 2953427	NM_000329.3(RPE65):c.94+14A>G	RPE65	Single nucleotide variant (intron variant)	Retinitis pigmentosa 20 +1 more	GLikely benign
Select item 2953236	NM_000329.3(RPE65):c.528G>A (p.Gly176=)	RPE65	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 20 +1 more	GLikely benign
Select item 2953230	NM_000329.3(RPE65):c.1314C>A (p.Gly438=)	RPE65	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 20 +1 more	GLikely benign
Select item 2953140	NM_000329.3(RPE65):c.1450+20T>G	RPE65	Single nucleotide variant (intron variant)	Retinitis pigmentosa 20 +1 more	GLikely benign
Select item 2952606	NM_000329.3(RPE65):c.596del (p.Asn199fs)	RPE65 (N199fs +2 more)	Deletion (frameshift variant)	Retinitis pigmentosa 20 +1 more	GPathogenic
Select item 2952123	NM_000329.3(RPE65):c.1122T>C (p.Ile374=)	RPE65	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 20 +1 more	GLikely benign
Select item 2952094	NM_000329.3(RPE65):c.94+10G>C	RPE65	Single nucleotide variant (intron variant)	Retinitis pigmentosa 20 +1 more	GLikely benign
Select item 2952069	NM_000329.3(RPE65):c.513T>A (p.Tyr171Ter)	RPE65 (Y171* +2 more)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 20 +1 more	GPathogenic
Select item 2951873	NM_000329.3(RPE65):c.354-15C>T	RPE65	Single nucleotide variant (intron variant)	Retinitis pigmentosa 20 +1 more	GLikely benign
Select item 2951738	NM_000329.3(RPE65):c.1338+19T>A	RPE65	Single nucleotide variant (intron variant)	Retinitis pigmentosa 20 +1 more	GLikely benign
Select item 2951706	NM_000329.3(RPE65):c.11+18A>T	RPE65	Single nucleotide variant (intron variant)	Retinitis pigmentosa 20 +1 more	GLikely benign
Select item 2951501	NM_000329.3(RPE65):c.246-12A>G	RPE65	Single nucleotide variant (intron variant)	Retinitis pigmentosa 20 +1 more	GLikely benign
Select item 2951350	NM_000329.3(RPE65):c.859-2A>C	RPE65	Single nucleotide variant (splice acceptor variant)	Retinitis pigmentosa 20 +1 more	GLikely pathogenic
Select item 2951333	NM_000329.3(RPE65):c.636G>A (p.Leu212=)	RPE65	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 20 +1 more	GLikely benign
Select item 2951104	NM_000329.3(RPE65):c.1339-11C>T	RPE65	Single nucleotide variant (intron variant)	Retinitis pigmentosa 20 +1 more	GLikely benign
Select item 2950905	NM_000329.3(RPE65):c.998+11A>G	RPE65	Single nucleotide variant (intron variant)	Retinitis pigmentosa 20 +1 more	GLikely benign
Select item 2950329	NM_000329.3(RPE65):c.434C>T (p.Ala145Val)	RPE65 (A109V +2 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 20 +1 more	GUncertain significance
Select item 2950036	NM_000329.3(RPE65):c.853A>T (p.Met285Leu)	RPE65 (M249L +2 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 20 +1 more	GUncertain significance
Select item 2949883	NM_000329.3(RPE65):c.1299T>A (p.Tyr433Ter)	RPE65 (Y341* +2 more)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 20 +1 more	GPathogenic
Select item 2949591	NM_000329.3(RPE65):c.284A>G (p.Glu95Gly)	RPE65 (E3G +1 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 20 +1 more	GUncertain significance
Select item 2949504	NM_000329.3(RPE65):c.646A>T (p.Lys216Ter)	RPE65 (K124* +2 more)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 20 +1 more	GPathogenic
Select item 2949429	NM_000329.3(RPE65):c.690C>T (p.Pro230=)	RPE65	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 20 +1 more	GLikely benign
Select item 2948679	NM_000329.3(RPE65):c.225A>G (p.Gly75=)	RPE65	Single nucleotide variant (synonymous variant +2 more)	Retinitis pigmentosa 20 +1 more	GLikely benign
Select item 2948459	NM_000329.3(RPE65):c.411C>G (p.Tyr137Ter)	RPE65 (Y101* +2 more)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 20 +1 more	GPathogenic
Select item 2948063	NM_000329.3(RPE65):c.1230A>C (p.Ser410=)	RPE65	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 20 +1 more	GLikely benign
Select item 2947886	NM_000329.3(RPE65):c.1563C>T (p.Asn521=)	RPE65	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 20 +1 more	GLikely benign
Select item 2947620	NM_000329.3(RPE65):c.963T>C (p.Asn321=)	RPE65	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 20 +1 more	GLikely benign
Select item 2947426	NM_000329.3(RPE65):c.859-5dup	RPE65	Duplication (intron variant)	Retinitis pigmentosa 20 +1 more	GBenign
Select item 2947092	NM_000329.3(RPE65):c.95-15_95-13dup	RPE65	Duplication (intron variant)	Retinitis pigmentosa 20 +1 more	GLikely benign
Select item 2947018	NM_000329.3(RPE65):c.336C>A (p.Cys112Ter)	RPE65 (C112* +1 more)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa 20 +1 more	GPathogenic
Select item 2946832	NM_000329.3(RPE65):c.353+15A>G	RPE65	Single nucleotide variant (intron variant)	Retinitis pigmentosa 20 +1 more	GLikely benign
Select item 2946758	NM_000329.3(RPE65):c.34dup (p.Tyr12fs)	RPE65 (Y12fs)	Duplication (frameshift variant +2 more)	Retinitis pigmentosa 20 +1 more	GPathogenic
Select item 2946266	NM_000329.3(RPE65):c.366C>A (p.Tyr122Ter)	RPE65 (Y30* +2 more)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 20 +1 more	GPathogenic
Select item 2946189	NM_000329.3(RPE65):c.353+8A>C	RPE65	Single nucleotide variant (intron variant)	Retinitis pigmentosa 20 +1 more	GLikely benign
Select item 2945853	NM_000329.3(RPE65):c.280A>T (p.Thr94Ser)	RPE65 (T2S +1 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 20 +1 more	GUncertain significance
Select item 2945730	NM_000329.3(RPE65):c.496-19A>G	RPE65	Single nucleotide variant (intron variant)	Retinitis pigmentosa 20 +1 more	GLikely benign
Select item 2945668	NM_000329.3(RPE65):c.84T>C (p.Ala28=)	RPE65	Single nucleotide variant (synonymous variant +2 more)	Retinitis pigmentosa 20 +1 more	GLikely benign
Select item 2945485	NM_000329.3(RPE65):c.1450+13A>G	RPE65	Single nucleotide variant (intron variant)	Leber congenital amaurosis 2 +1 more	GLikely benign
Select item 2945433	NM_000329.3(RPE65):c.174C>T (p.Tyr58=)	RPE65	Single nucleotide variant (synonymous variant +2 more)	Leber congenital amaurosis 2 +1 more	GLikely benign
Select item 2945343	NM_000329.3(RPE65):c.852C>T (p.Thr284=)	RPE65	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 2 +1 more	GLikely benign
Select item 2945136	NM_000329.3(RPE65):c.11+4_11+7del	RPE65	Microsatellite (splice donor variant)	Leber congenital amaurosis 2 +1 more	GUncertain significance
Select item 2945097	NM_000329.3(RPE65):c.1002del (p.Phe334fs)	RPE65 (F242fs +2 more)	Deletion (frameshift variant)	Leber congenital amaurosis 2 +1 more	GPathogenic
Select item 2945031	NM_000329.3(RPE65):c.803G>A (p.Trp268Ter)	RPE65 (W176* +2 more)	Single nucleotide variant (nonsense)	Leber congenital amaurosis 2 +1 more	GPathogenic
Select item 2945021	NM_000329.3(RPE65):c.1396_1397dup (p.Pro467fs)	RPE65 (P375fs +2 more)	Duplication (frameshift variant)	Leber congenital amaurosis 2 +1 more	GPathogenic
Select item 2944992	NM_000329.3(RPE65):c.750del (p.Ile250fs)	RPE65 (I250fs +2 more)	Deletion (frameshift variant)	Leber congenital amaurosis 2 +1 more	GPathogenic
Select item 2944620	NM_000329.3(RPE65):c.972G>C (p.Leu324=)	RPE65	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 2 +1 more	GLikely benign
Select item 2944344	NM_000329.3(RPE65):c.726-13T>C	RPE65	Single nucleotide variant (intron variant)	Leber congenital amaurosis 2 +1 more	GLikely benign
Select item 2944236	NM_000329.3(RPE65):c.55G>A (p.Val19Met)	RPE65 (V19M)	Single nucleotide variant (missense variant +2 more)	Leber congenital amaurosis 2 +1 more	GUncertain significance
Select item 2944083	NM_000329.3(RPE65):c.644-13C>T	RPE65	Single nucleotide variant (intron variant)	Leber congenital amaurosis 2 +1 more	GLikely benign
Select item 2943937	NM_000329.3(RPE65):c.601del (p.Ser201fs)	RPE65 (S109fs +2 more)	Deletion (frameshift variant)	Leber congenital amaurosis 2 +1 more	GPathogenic
Select item 2943896	NM_000329.3(RPE65):c.1128+20A>G	RPE65 (D383G)	Single nucleotide variant (missense variant +1 more)	Leber congenital amaurosis 2 +1 more	GLikely benign
Select item 2943528	NM_000329.3(RPE65):c.998+16G>A	RPE65	Single nucleotide variant (intron variant)	Retinitis pigmentosa 20 +1 more	GLikely benign
Select item 2943444	NM_000329.3(RPE65):c.142_143del (p.Gly48fs)	RPE65 (G48fs)	Deletion (frameshift variant +2 more)	Retinitis pigmentosa 20 +1 more	GPathogenic
Select item 2943310	NM_000329.3(RPE65):c.245+7C>G	RPE65	Single nucleotide variant (intron variant)	Retinitis pigmentosa 20 +1 more	GLikely benign
Select item 2943079	NM_000329.3(RPE65):c.95-1G>C	RPE65	Single nucleotide variant (splice acceptor variant +1 more)	Retinitis pigmentosa 20 +1 more	GPathogenic
Select item 2942854	NM_000329.3(RPE65):c.1339-4del	RPE65	Deletion (intron variant)	Retinitis pigmentosa 20 +1 more	GLikely benign
Select item 2942838	NM_000329.3(RPE65):c.1129-7C>G	RPE65	Single nucleotide variant (intron variant)	Retinitis pigmentosa 20 +1 more	GLikely benign
Select item 2942539	NM_000329.3(RPE65):c.885A>G (p.Lys295=)	RPE65	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 20 +1 more	GLikely benign
Select item 2942538	NM_000329.3(RPE65):c.245+11del	RPE65	Deletion (intron variant)	Retinitis pigmentosa 20 +1 more	GLikely benign
Select item 2941898	NM_000329.3(RPE65):c.1243+8G>A	RPE65	Single nucleotide variant (intron variant)	Retinitis pigmentosa 20 +1 more	GLikely benign
Select item 2941661	NM_000329.3(RPE65):c.1596A>G (p.Lys532=)	RPE65	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 20 +1 more	GLikely benign
Select item 2941442	NM_000329.3(RPE65):c.1148T>G (p.Leu383Ter)	RPE65 (L347* +2 more)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 20 +1 more	GPathogenic
Select item 2940975	NM_000329.3(RPE65):c.945C>T (p.Ile315=)	RPE65	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 20 +1 more	GLikely benign
Select item 2940931	NM_000329.3(RPE65):c.1023A>G (p.Leu341=)	RPE65	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 20 +1 more	GLikely benign
Select item 2940291	NM_000329.3(RPE65):c.1401A>G (p.Pro467=)	RPE65	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 20 +1 more	GLikely benign
Select item 2940179	NM_000329.3(RPE65):c.198C>T (p.Leu66=)	RPE65	Single nucleotide variant (synonymous variant +2 more)	Retinitis pigmentosa 20 +1 more	GLikely benign
Select item 2939933	NM_000329.3(RPE65):c.644-14C>T	RPE65	Single nucleotide variant (intron variant)	Retinitis pigmentosa 20 +1 more	GLikely benign
Select item 2939795	NM_000329.3(RPE65):c.1245A>G (p.Ala415=)	RPE65	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 20 +1 more	GLikely benign
Select item 2939683	NM_000329.3(RPE65):c.1450+19G>C	RPE65	Single nucleotide variant (intron variant)	Retinitis pigmentosa 20 +1 more	GLikely benign
Select item 2939580	NM_000329.3(RPE65):c.1251G>A (p.Glu417=)	RPE65	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 2 +1 more	GLikely benign
Select item 2939563	NM_000329.3(RPE65):c.83C>A (p.Ala28Asp)	RPE65 (A28D)	Single nucleotide variant (missense variant +2 more)	Leber congenital amaurosis 2 +1 more	GUncertain significance
Select item 2939345	NM_000329.3(RPE65):c.325C>T (p.Pro109Ser)	RPE65 (P17S +1 more)	Single nucleotide variant (missense variant +1 more)	Leber congenital amaurosis 2 +1 more	GUncertain significance
Select item 2939219	NM_000329.3(RPE65):c.999-12T>C	RPE65	Single nucleotide variant (intron variant)	Leber congenital amaurosis 2 +1 more	GLikely benign
Select item 2938614	NM_000329.3(RPE65):c.1243+16G>A	RPE65	Single nucleotide variant (intron variant)	Leber congenital amaurosis 2 +1 more	GLikely benign
Select item 2938540	NM_000329.3(RPE65):c.513T>C (p.Tyr171=)	RPE65	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 2 +1 more	GLikely benign
Select item 2938215	NM_000329.3(RPE65):c.960C>T (p.Asp320=)	RPE65	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 2 +1 more	GLikely benign
Select item 2937843	NM_000329.3(RPE65):c.353+14A>C	RPE65	Single nucleotide variant (intron variant)	Leber congenital amaurosis 2 +1 more	GLikely benign
Select item 2937597	NM_000329.3(RPE65):c.858+1G>C	RPE65	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa 20 +1 more	GPathogenic
Select item 2937217	NM_000329.3(RPE65):c.1119T>C (p.Asn373=)	RPE65	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 20 +1 more	GLikely benign
Select item 2936904	NM_000329.3(RPE65):c.94+17T>A	RPE65	Single nucleotide variant (intron variant)	Retinitis pigmentosa 20 +1 more	GLikely benign
Select item 2936725	NM_000329.3(RPE65):c.1338+11C>G	RPE65	Single nucleotide variant (intron variant)	Retinitis pigmentosa 20 +1 more	GLikely benign
Select item 2936489	NM_000329.3(RPE65):c.318T>C (p.Cys106=)	RPE65	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 20 +1 more	GLikely benign
Select item 2936421	NM_000329.3(RPE65):c.270A>G (p.Val90=)	RPE65	Single nucleotide variant (synonymous variant +2 more)	Retinitis pigmentosa 20 +1 more	GLikely benign
Select item 2936414	NM_000329.3(RPE65):c.859-13C>T	RPE65	Single nucleotide variant (intron variant)	Retinitis pigmentosa 20 +1 more	GLikely benign
Select item 2936013	NM_000329.3(RPE65):c.998+15T>C	RPE65	Single nucleotide variant (intron variant)	Retinitis pigmentosa 20 +1 more	GLikely benign
Select item 2936000	NM_000329.3(RPE65):c.95-8C>T	RPE65	Single nucleotide variant (intron variant)	Retinitis pigmentosa 20 +1 more	GLikely benign
Select item 2935610	NM_000329.3(RPE65):c.496-12T>C	RPE65	Single nucleotide variant (intron variant)	Retinitis pigmentosa 20 +1 more	GLikely benign
Select item 2935567	NM_000329.3(RPE65):c.725+19A>G	RPE65	Single nucleotide variant (intron variant)	Retinitis pigmentosa 20 +1 more	GLikely benign
Select item 2935531	NM_000329.3(RPE65):c.353+20A>T	RPE65	Single nucleotide variant (intron variant)	Retinitis pigmentosa 20 +1 more	GLikely benign
Select item 2935518	NM_000329.3(RPE65):c.1587G>C (p.Leu529=)	RPE65	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 20 +1 more	GLikely benign
Select item 2935280	NM_000329.3(RPE65):c.94+15T>C	RPE65	Single nucleotide variant (intron variant)	Retinitis pigmentosa 20 +1 more	GLikely benign
Select item 2935213	NM_000329.3(RPE65):c.400G>A (p.Val134Ile)	RPE65 (V134I +2 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 20 +1 more	GUncertain significance
Select item 2934284	NM_000329.3(RPE65):c.725+20T>C	RPE65	Single nucleotide variant (intron variant)	Retinitis pigmentosa 20 +1 more	GLikely benign
Select item 2934277	NM_000329.3(RPE65):c.1129-18T>G	RPE65	Single nucleotide variant (intron variant)	Retinitis pigmentosa 20 +1 more	GLikely benign
Select item 2934111	NM_000329.3(RPE65):c.1534G>A (p.Glu512Lys)	RPE65 (E420K +2 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 20 +1 more	GUncertain significance
Select item 2934052	NM_000329.3(RPE65):c.633A>G (p.Pro211=)	RPE65	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 20 +1 more	GLikely benign
Select item 2933501	NM_000329.3(RPE65):c.1554G>A (p.Val518=)	RPE65	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 20 +1 more	GLikely benign

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