Nrl Variant Search Result - Rat Genome Database

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238 records found for search term Nrl

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
11615057	CV329049	single nucleotide variant	NM_001354768.3(NRL):c.-25G>C	Retinitis pigmentosa [RCV000282031]	likely benign\|uncertain significance	14	24082873	24082873	Human	2	name
11648688	CV335685	single nucleotide variant	NM_001354768.3(NRL):c.*56G>A	Retinitis pigmentosa [RCV000283025]	uncertain significance	14	24081180	24081180	Human	2	name
11600935	CV320383	single nucleotide variant	NM_001354768.3(NRL):c.*558C>T	Retinitis pigmentosa [RCV000277623]	benign\|likely benign	14	24080678	24080678	Human	2	name
11656055	CV320385	single nucleotide variant	NM_001354768.3(NRL):c.*480A>G	Retinitis pigmentosa [RCV000330373]	uncertain significance	14	24080756	24080756	Human	2	name
11600156	CV320386	deletion	NM_001354768.3(NRL):c.*283del	Retinitis Pigmentosa, Dominant [RCV000271600]	uncertain significance	14	24080953	24080953	Human	1	name
11610440	CV320388	single nucleotide variant	NM_001354768.3(NRL):c.*213C>A	Retinitis pigmentosa [RCV000381472]	likely benign\|uncertain significance	14	24081023	24081023	Human	2	name
11617038	CV329005	single nucleotide variant	NM_001354768.3(NRL):c.*935C>T	Retinitis pigmentosa [RCV000300243]	uncertain significance	14	24080301	24080301	Human	2	name
11651468	CV329006	single nucleotide variant	NM_001354768.3(NRL):c.*780G>C	Retinitis pigmentosa [RCV000299009]	uncertain significance	14	24080456	24080456	Human	2	name
11623200	CV329018	single nucleotide variant	NM_001354768.3(NRL):c.*667C>T	Retinitis pigmentosa [RCV000370061]	benign\|likely benign	14	24080569	24080569	Human	2	name
11623130	CV329040	single nucleotide variant	NM_001354768.3(NRL):c.*472C>T	Retinitis pigmentosa [RCV000368738]	likely benign\|uncertain significance	14	24080764	24080764	Human	2	name
11615806	CV329043	single nucleotide variant	NM_001354768.3(NRL):c.*173A>T	Retinitis pigmentosa [RCV000289332]	benign\|likely benign	14	24081063	24081063	Human	2	name
11622162	CV335662	single nucleotide variant	NM_001354768.3(NRL):c.*834G>C	Retinitis pigmentosa [RCV000357328]\|not provided [RCV004714802]	benign\|likely benign	14	24080402	24080402	Human	2	name
11625560	CV335663	single nucleotide variant	NM_001354768.3(NRL):c.*813G>A	Retinitis pigmentosa [RCV000400016]\|not provided [RCV004693163]	uncertain significance	14	24080423	24080423	Human	2	name
11619770	CV335678	single nucleotide variant	NM_001354768.3(NRL):c.*221G>A	Retinitis pigmentosa [RCV000329255]\|not provided [RCV004714803]	benign\|likely benign	14	24081015	24081015	Human	2	name
11624016	CV335679	single nucleotide variant	NM_001354768.3(NRL):c.*108C>T	Retinitis pigmentosa [RCV000379875]	likely benign\|uncertain significance	14	24081128	24081128	Human	2	name
11619262	CV337493	single nucleotide variant	NM_001354768.3(NRL):c.*113C>A	Retinitis pigmentosa [RCV000323329]\|not provided [RCV004705287]	likely benign\|uncertain significance	14	24081123	24081123	Human	2	name
28873584	CV871740	single nucleotide variant	NM_001354768.3(NRL):c.*864G>A	Retinitis pigmentosa [RCV001115077]	uncertain significance	14	24080372	24080372	Human	2	name
28910753	CV871741	single nucleotide variant	NM_001354768.3(NRL):c.*778C>T	Retinitis pigmentosa [RCV001109438]	uncertain significance	14	24080458	24080458	Human	2	name
28910756	CV871742	single nucleotide variant	NM_001354768.3(NRL):c.*673C>A	Retinitis pigmentosa [RCV001109439]	uncertain significance	14	24080563	24080563	Human	2	name
28867335	CV871743	single nucleotide variant	NM_001354768.3(NRL):c.*301A>T	Retinitis pigmentosa [RCV001111754]	uncertain significance	14	24080935	24080935	Human	2	name
151879368	CV1398691	single nucleotide variant	NM_001354768.3(NRL):c.382-2A>G	not provided [RCV002019940]	uncertain significance	14	24081570	24081570	Human		name
156077922	CV2053601	single nucleotide variant	NM_001354768.3(NRL):c.381+1G>A	not provided [RCV002823760]	pathogenic	14	24082467	24082467	Human		name
156350210	CV2189561	single nucleotide variant	NM_001354768.3(NRL):c.381+5G>T	not provided [RCV003048274]	uncertain significance	14	24082463	24082463	Human		name
405191205	CV2964849	single nucleotide variant	NM_001354768.3(NRL):c.382-5C>A	not provided [RCV003677215]	uncertain significance	14	24081573	24081573	Human		name
11607138	CV320382	single nucleotide variant	NM_001354768.3(NRL):c.*1118G>A	Retinitis pigmentosa [RCV000340045]	benign\|likely benign	14	24080118	24080118	Human	2	name
11615626	CV335657	single nucleotide variant	NM_001354768.3(NRL):c.*1127T>C	Retinitis pigmentosa [RCV000287431]	uncertain significance	14	24080109	24080109	Human	2	name
11625733	CV335658	single nucleotide variant	NM_001354768.3(NRL):c.*1043G>A	Retinitis pigmentosa [RCV000402261]	uncertain significance	14	24080193	24080193	Human	2	name
596939068	CV3407609	single nucleotide variant	NM_001354768.3(NRL):c.382-7T>A	Retinal dystrophy [RCV004814069]	uncertain significance	14	24081575	24081575	Human	2	name
597853108	CV3737711	single nucleotide variant	NM_001354768.3(NRL):c.381+3G>C	not provided [RCV005066484]	uncertain significance	14	24082465	24082465	Human		name
597963353	CV3819597	single nucleotide variant	NM_001354768.3(NRL):c.382-5C>G	not provided [RCV005164313]	likely benign	14	24081573	24081573	Human		name
14693065	CV620860	single nucleotide variant	NM_001354768.3(NRL):c.-27-2A>G	Retinitis pigmentosa [RCV000778406]	uncertain significance	14	24082877	24082877	Human	1	name
127278042	CV1080414	single nucleotide variant	NM_001354768.3(NRL):c.382-10C>T	not provided [RCV001408238]	likely benign	14	24081578	24081578	Human		name
127241806	CV1080415	single nucleotide variant	NM_001354768.3(NRL):c.382-10C>G	not provided [RCV001398073]	likely benign	14	24081578	24081578	Human		name
152167119	CV1534922	single nucleotide variant	NM_001354768.3(NRL):c.381+20G>C	not provided [RCV002160790]	likely benign	14	24082448	24082448	Human		name
152065359	CV1654517	single nucleotide variant	NM_001354768.3(NRL):c.382-17G>C	not provided [RCV002191084]	likely benign	14	24081585	24081585	Human		name
155919231	CV2027259	single nucleotide variant	NM_001354768.3(NRL):c.382-16C>T	not provided [RCV002750626]	likely benign	14	24081584	24081584	Human		name
28873802	CV871749	single nucleotide variant	NM_001354768.3(NRL):c.-27-1663C>T	Retinitis pigmentosa [RCV001115181]	uncertain significance	14	24084538	24084538	Human	2	name
405709735	CV3225606	single nucleotide variant	NM_001354768.3(NRL):c.-27-11564C>T	Retinitis pigmentosa 27 [RCV003990663]	uncertain significance	14	24094439	24094439	Human	1	name
127255166	CV1080417	single nucleotide variant	NM_001354768.3(NRL):c.27C>T (p.Ala9=)	not provided [RCV001400933]	likely benign	14	24082822	24082822	Human		name
126919440	CV1048509	single nucleotide variant	NM_001354768.3(NRL):c.7C>A (p.Leu3Met)	not provided [RCV001362292]	uncertain significance	14	24082842	24082842	Human		name
151882756	CV1364347	duplication	NM_001354768.3(NRL):c.15dup (p.Ser6fs)	not provided [RCV001999906]	pathogenic	14	24082833	24082834	Human		name
9480323	CV152851	deletion	NM_001354768.3(NRL):c.23del (p.Leu8fs)	Retinitis pigmentosa [RCV000132657]	likely pathogenic	14	24082826	24082826	Human	2	name
152158933	CV1529148	single nucleotide variant	NM_001354768.3(NRL):c.99C>T (p.Gly33=)	not provided [RCV002159284]	likely benign	14	24082750	24082750	Human		name
156323434	CV2022367	single nucleotide variant	NM_001354768.3(NRL):c.5C>T (p.Ala2Val)	not provided [RCV002717246]	uncertain significance	14	24082844	24082844	Human		name
405263117	CV3188583	single nucleotide variant	NM_001354768.3(NRL):c.60G>A (p.Lys20=)	Retinal dystrophy [RCV003889647]	uncertain significance	14	24082789	24082789	Human	2	name
405263118	CV3188584	single nucleotide variant	NM_001354768.3(NRL):c.36T>C (p.Tyr12=)	Retinal dystrophy [RCV003889648]	uncertain significance	14	24082813	24082813	Human	2	name
598227637	CV3896010	deletion	NM_001354768.3(NRL):c.22del (p.Leu8fs)	Retinitis pigmentosa 27 [RCV005362269]	likely pathogenic	14	24082827	24082827	Human	1	name
14693064	CV620481	deletion	NM_001354768.3(NRL):c.16del (p.Ser6fs)	Retinitis pigmentosa [RCV000778405]	uncertain significance	14	24082833	24082833	Human	1	name
127253272	CV1102224	single nucleotide variant	NM_001354768.3(NRL):c.126A>C (p.Thr42=)	not provided [RCV001436977]	likely benign	14	24082723	24082723	Human		name
127288561	CV1123668	single nucleotide variant	NM_001354768.3(NRL):c.270G>A (p.Leu90=)	not provided [RCV001450521]	likely benign	14	24082579	24082579	Human		name
127292215	CV1123669	single nucleotide variant	NM_001354768.3(NRL):c.225G>A (p.Leu75=)	not provided [RCV001458919]	likely benign	14	24082624	24082624	Human		name
127288892	CV1144519	single nucleotide variant	NM_001354768.3(NRL):c.267G>A (p.Gly89=)	not provided [RCV001495451]	likely benign	14	24082582	24082582	Human		name
151750320	CV1457189	single nucleotide variant	NM_001354768.3(NRL):c.17G>A (p.Ser6Asn)	not provided [RCV001912918]	uncertain significance	14	24082832	24082832	Human		name
151760257	CV1500005	single nucleotide variant	NM_001354768.3(NRL):c.14C>G (p.Pro5Arg)	not provided [RCV001895225]	uncertain significance	14	24082835	24082835	Human		name
152139450	CV1549686	single nucleotide variant	NM_001354768.3(NRL):c.249G>A (p.Gly83=)	not provided [RCV002156570]	likely benign	14	24082600	24082600	Human		name
152039451	CV1644408	single nucleotide variant	NM_001354768.3(NRL):c.102C>T (p.Pro34=)	not provided [RCV002165467]	likely benign	14	24082747	24082747	Human		name
155749766	CV1772262	single nucleotide variant	NM_001354768.3(NRL):c.17G>T (p.Ser6Ile)	not provided [RCV002304995]	uncertain significance	14	24082832	24082832	Human		name
156408817	CV1954531	single nucleotide variant	NM_001354768.3(NRL):c.262T>C (p.Leu88=)	not provided [RCV002586625]	likely benign	14	24082587	24082587	Human		name
156307802	CV1976635	single nucleotide variant	NM_001354768.3(NRL):c.10C>T (p.Pro4Ser)	not provided [RCV002578531]	uncertain significance	14	24082839	24082839	Human		name
156321916	CV1978753	duplication	NM_001354768.3(NRL):c.76dup (p.Glu26fs)	not provided [RCV002630403]	pathogenic	14	24082772	24082773	Human		name
155961712	CV2089087	single nucleotide variant	NM_001354768.3(NRL):c.268C>T (p.Leu90=)	not provided [RCV002881052]	likely benign	14	24082581	24082581	Human		name
156303222	CV2146515	single nucleotide variant	NM_001354768.3(NRL):c.213G>A (p.Glu71=)	not provided [RCV003028195]	likely benign	14	24082636	24082636	Human		name
404977118	CV3127119	single nucleotide variant	NM_001354768.3(NRL):c.11C>T (p.Pro4Leu)	not provided [RCV003825342]	uncertain significance	14	24082838	24082838	Human		name
405166391	CV3153615	single nucleotide variant	NM_001354768.3(NRL):c.17G>C (p.Ser6Thr)	not provided [RCV003841160]	uncertain significance	14	24082832	24082832	Human		name
15133208	CV739178	single nucleotide variant	NM_001354768.3(NRL):c.186C>T (p.Thr62=)	Retinal dystrophy [RCV003890031]\|not provided [RCV000898092]	likely benign	14	24082663	24082663	Human	2	name
15150855	CV753999	single nucleotide variant	NM_001354768.3(NRL):c.249G>T (p.Gly83=)	not provided [RCV000923554]	likely benign	14	24082600	24082600	Human		name
126752796	CV1011057	single nucleotide variant	NM_001354768.3(NRL):c.687C>A (p.Ser229=)	not provided [RCV001316378]	likely benign\|uncertain significance	14	24081263	24081263	Human		name
126726164	CV1031554	single nucleotide variant	NM_001354768.3(NRL):c.62T>C (p.Phe21Ser)	not provided [RCV001348374]	uncertain significance	14	24082787	24082787	Human		name
127247495	CV1080416	single nucleotide variant	NM_001354768.3(NRL):c.315C>T (p.Val105=)	not provided [RCV001416912]	likely benign	14	24082534	24082534	Human		name
127302963	CV1157205	single nucleotide variant	NM_001354768.3(NRL):c.450G>C (p.Arg150=)	NRL-related disorder [RCV004758186]\|not provided [RCV001515265]	benign\|likely benign	14	24081500	24081500	Human	1	name , trait , alternate_id
151815958	CV1486175	single nucleotide variant	NM_001354768.3(NRL):c.89G>A (p.Gly30Asp)	not provided [RCV002049310]	uncertain significance	14	24082760	24082760	Human		name
152140401	CV1551385	single nucleotide variant	NM_001354768.3(NRL):c.408G>T (p.Ala136=)	not provided [RCV002177980]	likely benign	14	24081542	24081542	Human		name
152154161	CV1592988	single nucleotide variant	NM_001354768.3(NRL):c.684G>A (p.Gly228=)	not provided [RCV002202432]	likely benign	14	24081266	24081266	Human		name
152116184	CV1643007	single nucleotide variant	NM_001354768.3(NRL):c.417G>A (p.Ser139=)	not provided [RCV002216163]	likely benign	14	24081533	24081533	Human		name
152053068	CV1659259	single nucleotide variant	NM_001354768.3(NRL):c.516C>T (p.Tyr172=)	not provided [RCV002189645]	likely benign	14	24081434	24081434	Human		name
9688739	CV177889	single nucleotide variant	NM_001354768.3(NRL):c.711C>G (p.Leu237=)	Retinitis pigmentosa [RCV000340494]\|not provided [RCV000898427]\|not specified [RCV000153600]	benign\|likely benign	14	24081239	24081239	Human	2	name
156408341	CV1911570	single nucleotide variant	NM_001354768.3(NRL):c.92G>A (p.Arg31Gln)	not provided [RCV002607199]	uncertain significance	14	24082757	24082757	Human		name
156376781	CV1956675	single nucleotide variant	NM_001354768.3(NRL):c.585C>G (p.Ala195=)	not provided [RCV002582869]	likely benign	14	24081365	24081365	Human		name
156410542	CV1958420	single nucleotide variant	NM_001354768.3(NRL):c.687C>G (p.Ser229=)	not provided [RCV002587186]	likely benign	14	24081263	24081263	Human		name
156335545	CV1988243	single nucleotide variant	NM_001354768.3(NRL):c.76G>A (p.Glu26Lys)	not provided [RCV002631164]	uncertain significance	14	24082773	24082773	Human		name
156329263	CV1992566	single nucleotide variant	NM_001354768.3(NRL):c.675C>T (p.Ser225=)	not provided [RCV002649728]	likely benign	14	24081275	24081275	Human		name
156279744	CV2005160	single nucleotide variant	NM_001354768.3(NRL):c.693C>T (p.Asp231=)	not provided [RCV002646801]	likely benign	14	24081257	24081257	Human		name
156066363	CV2022366	single nucleotide variant	NM_001354768.3(NRL):c.696C>T (p.Pro232=)	not provided [RCV002760180]	likely benign	14	24081254	24081254	Human		name
155989121	CV2066716	single nucleotide variant	NM_001354768.3(NRL):c.708C>T (p.Phe236=)	not provided [RCV002842884]	likely benign	14	24081242	24081242	Human		name
155919601	CV2073636	single nucleotide variant	NM_001354768.3(NRL):c.462C>T (p.Arg154=)	not provided [RCV002838248]	likely benign	14	24081488	24081488	Human		name
156198271	CV2182667	single nucleotide variant	NM_001354768.3(NRL):c.483G>A (p.Lys161=)	not provided [RCV003024363]	likely benign	14	24081467	24081467	Human		name
156167655	CV2184822	single nucleotide variant	NM_001354768.3(NRL):c.74G>A (p.Arg25Gln)	Retinal dystrophy [RCV003889209]\|not provided [RCV003057121]	likely pathogenic\|uncertain significance	14	24082775	24082775	Human	2	name
8564018	CV29082	duplication	NM_001354768.3(NRL):c.223dup (p.Leu75fs)	Retinal degeneration, autosomal recessive, clumped pigment type [RCV000015087]\|Retinitis pigmentosa 27 [RCV002476969]\|not provided [RCV001071187]	pathogenic	14	24082625	24082626	Human	2	name
405065802	CV2940026	single nucleotide variant	NM_001354768.3(NRL):c.474G>A (p.Leu158=)	not provided [RCV003659089]	likely benign	14	24081476	24081476	Human		name
405238415	CV2986804	single nucleotide variant	NM_001354768.3(NRL):c.711C>T (p.Leu237=)	not provided [RCV003683511]	likely benign	14	24081239	24081239	Human		name
405190234	CV2988024	single nucleotide variant	NM_001354768.3(NRL):c.462C>A (p.Arg154=)	not provided [RCV003706397]	likely benign	14	24081488	24081488	Human		name
405217391	CV3037879	single nucleotide variant	NM_001354768.3(NRL):c.315C>A (p.Val105=)	not provided [RCV003709498]	likely benign	14	24082534	24082534	Human		name
405263114	CV3188581	single nucleotide variant	NM_001354768.3(NRL):c.604C>A (p.Arg202=)	Retinal dystrophy [RCV003889645]	likely pathogenic	14	24081346	24081346	Human	2	name
11625210	CV337496	single nucleotide variant	NM_001354768.3(NRL):c.441G>A (p.Arg147=)	Retinitis pigmentosa [RCV000395648]\|not provided [RCV000954978]\|not specified [RCV001699305]	benign\|likely benign	14	24081509	24081509	Human	2	name
11632470	CV353881	single nucleotide variant	NM_001354768.3(NRL):c.91C>T (p.Arg31Ter)	Enhanced S-cone syndrome [RCV000408517]\|Retinitis pigmentosa 27 [RCV001782861]\|not provided [RCV002524611]	pathogenic\|likely pathogenic	14	24082758	24082758	Human	2	name
597830753	CV3743292	single nucleotide variant	NM_001354768.3(NRL):c.627C>G (p.Ala209=)	not provided [RCV005062300]	likely benign	14	24081323	24081323	Human		name
597873310	CV3765993	single nucleotide variant	NM_001354768.3(NRL):c.29T>A (p.Met10Lys)	not provided [RCV005108124]	uncertain significance	14	24082820	24082820	Human		name
597946326	CV3807486	single nucleotide variant	NM_001354768.3(NRL):c.681C>T (p.Pro227=)	not provided [RCV005160121]	likely benign	14	24081269	24081269	Human		name
598220409	CV3998130	single nucleotide variant	NM_001354768.3(NRL):c.47T>A (p.Phe16Tyr)	Inborn genetic diseases [RCV005379502]	uncertain significance	14	24082802	24082802	Human	1	name
13796231	CV551571	duplication	NM_001354768.3(NRL):c.104dup (p.Thr36fs)	Retinal dystrophy [RCV004817919]\|Retinitis pigmentosa 27 [RCV000678586]	pathogenic	14	24082744	24082745	Human	3	name
15181063	CV725629	single nucleotide variant	NM_001354768.3(NRL):c.399C>T (p.Ser133=)	Retinitis pigmentosa [RCV001112199]\|not provided [RCV000885676]	benign\|likely benign	14	24081551	24081551	Human	2	name
15131930	CV739177	single nucleotide variant	NM_001354768.3(NRL):c.549G>A (p.Gln183=)	NRL-related disorder [RCV003910700]\|not provided [RCV000897865]	likely benign	14	24081401	24081401	Human	1	name , trait , alternate_id
15146905	CV753998	single nucleotide variant	NM_001354768.3(NRL):c.402C>T (p.Asp134=)	not provided [RCV000922799]	benign	14	24081548	24081548	Human		name
26910460	CV856781	single nucleotide variant	NM_001354768.3(NRL):c.73C>T (p.Arg25Trp)	Retinal dystrophy [RCV001074993]	uncertain significance	14	24082776	24082776	Human	2	name
28868010	CV871744	single nucleotide variant	NM_001354768.3(NRL):c.645C>T (p.Tyr215=)	Retinitis pigmentosa [RCV001112196]\|not provided [RCV001493310]	likely benign\|uncertain significance	14	24081305	24081305	Human	2	name
126919360	CV1048508	single nucleotide variant	NM_001354768.3(NRL):c.103C>T (p.Pro35Ser)	not provided [RCV001373183]	uncertain significance	14	24082746	24082746	Human		name
127237815	CV1054107	single nucleotide variant	NM_001354768.3(NRL):c.152C>A (p.Pro51His)	Retinal dystrophy [RCV004815501]\|Retinitis pigmentosa 27 [RCV001376379]	likely pathogenic	14	24082697	24082697	Human	3	name
151831341	CV1355932	single nucleotide variant	NM_001354768.3(NRL):c.106A>G (p.Thr36Ala)	not provided [RCV002030837]	uncertain significance	14	24082743	24082743	Human		name
151722250	CV1389219	single nucleotide variant	NM_001354768.3(NRL):c.288G>A (p.Met96Ile)	Inborn genetic diseases [RCV004651901]\|not provided [RCV002040248]	uncertain significance	14	24082561	24082561	Human	1	name
151711750	CV1395198	duplication	NM_001354768.3(NRL):c.567dup (p.Glu190fs)	not provided [RCV001964442]	uncertain significance	14	24081382	24081383	Human		name
151728066	CV1409966	deletion	NM_001354768.3(NRL):c.537del (p.Lys179fs)	not provided [RCV001910587]	uncertain significance	14	24081413	24081413	Human		name
151831219	CV1414285	deletion	NM_001354768.3(NRL):c.21_24del (p.Leu8fs)	not provided [RCV001870545]	pathogenic	14	24082825	24082828	Human		name
151889625	CV1420286	single nucleotide variant	NM_001354768.3(NRL):c.197G>A (p.Arg66Gln)	not provided [RCV002001335]	uncertain significance	14	24082652	24082652	Human		name
151824560	CV1424969	deletion	NM_001354768.3(NRL):c.348del (p.Ser117fs)	not provided [RCV001901207]	pathogenic	14	24082501	24082501	Human		name
151801342	CV1442275	single nucleotide variant	NM_001354768.3(NRL):c.196C>G (p.Arg66Gly)	not provided [RCV002011601]	uncertain significance	14	24082653	24082653	Human		name
151814271	CV1444351	single nucleotide variant	NM_001354768.3(NRL):c.197G>T (p.Arg66Leu)	not provided [RCV001933509]	uncertain significance	14	24082652	24082652	Human		name
152035470	CV1670152	single nucleotide variant	NM_001354768.3(NRL):c.250G>A (p.Ala84Thr)	not provided [RCV002223686]	uncertain significance	14	24082599	24082599	Human		name
156208424	CV1874690	single nucleotide variant	NM_001354768.3(NRL):c.148T>C (p.Ser50Pro)	Retinal dystrophy [RCV004817194]\|not provided [RCV003058433]	pathogenic\|likely pathogenic	14	24082701	24082701	Human	2	name
10048163	CV192419	single nucleotide variant	NM_001354768.3(NRL):c.151C>T (p.Pro51Ser)	Retinitis pigmentosa 27 [RCV001376429]\|not provided [RCV000175819]	pathogenic\|likely pathogenic	14	24082698	24082698	Human	1	name
156142782	CV2002834	single nucleotide variant	NM_001354768.3(NRL):c.172A>T (p.Met58Leu)	not provided [RCV002663629]	uncertain significance	14	24082677	24082677	Human		name
156372705	CV2003584	single nucleotide variant	NM_001354768.3(NRL):c.175G>A (p.Val59Met)	not provided [RCV002653035]	uncertain significance	14	24082674	24082674	Human		name
155989698	CV2066743	single nucleotide variant	NM_001354768.3(NRL):c.127C>T (p.Pro43Ser)	not provided [RCV002842907]	uncertain significance	14	24082722	24082722	Human		name
155970893	CV2262286	single nucleotide variant	NM_001354768.3(NRL):c.173T>C (p.Met58Thr)	Inborn genetic diseases [RCV002817695]	uncertain significance	14	24082676	24082676	Human	1	name
8564017	CV29081	single nucleotide variant	NM_001354768.3(NRL):c.148T>A (p.Ser50Thr)	Retinitis pigmentosa 27 [RCV000015086]	pathogenic	14	24082701	24082701	Human	1	name
405135556	CV2958062	single nucleotide variant	NM_001354768.3(NRL):c.170G>A (p.Gly57Asp)	not provided [RCV003672785]	uncertain significance	14	24082679	24082679	Human		name
405142212	CV2958632	single nucleotide variant	NM_001354768.3(NRL):c.175G>T (p.Val59Leu)	not provided [RCV003673250]	uncertain significance	14	24082674	24082674	Human		name
405062224	CV3030019	single nucleotide variant	NM_001354768.3(NRL):c.164A>G (p.Glu55Gly)	not provided [RCV003697684]	uncertain significance	14	24082685	24082685	Human		name
405167600	CV3153706	single nucleotide variant	NM_001354768.3(NRL):c.265G>C (p.Gly89Arg)	not provided [RCV003841251]	uncertain significance	14	24082584	24082584	Human		name
407516934	CV3465915	single nucleotide variant	NM_001354768.3(NRL):c.115C>G (p.Leu39Val)	Inborn genetic diseases [RCV004650458]	uncertain significance	14	24082734	24082734	Human	1	name
597690026	CV3576874	single nucleotide variant	NM_001354768.3(NRL):c.103C>G (p.Pro35Ala)	Inborn genetic diseases [RCV004954025]\|not provided [RCV005107641]	uncertain significance	14	24082746	24082746	Human	1	name
12835873	CV374189	single nucleotide variant	NM_001354768.3(NRL):c.199C>T (p.Pro67Ser)	not provided [RCV001248164]\|not specified [RCV000422426]	likely benign\|uncertain significance	14	24082650	24082650	Human		name
597973312	CV3820408	single nucleotide variant	NM_001354768.3(NRL):c.194C>A (p.Thr65Asn)	not provided [RCV005167925]	uncertain significance	14	24082655	24082655	Human		name
597956066	CV3838128	single nucleotide variant	NM_001354768.3(NRL):c.196C>T (p.Arg66Trp)	not provided [RCV005191503]	uncertain significance	14	24082653	24082653	Human		name
597909393	CV3853844	single nucleotide variant	NM_001354768.3(NRL):c.235C>T (p.Gln79Ter)	not provided [RCV005203328]	pathogenic	14	24082614	24082614	Human		name
598124401	CV3883504	single nucleotide variant	NM_001354768.3(NRL):c.152C>G (p.Pro51Arg)	Retinitis pigmentosa 27 [RCV005235865]	likely pathogenic	14	24082697	24082697	Human	1	name
598125840	CV3885949	single nucleotide variant	NM_001354768.3(NRL):c.146C>T (p.Pro49Leu)	not provided [RCV005241752]	pathogenic	14	24082703	24082703	Human		name
8570477	CV48109	single nucleotide variant	NM_001354768.3(NRL):c.287T>C (p.Met96Thr)	Retinal dystrophy [RCV001074266]\|Retinitis pigmentosa 27 [RCV000032706]\|not provided [RCV005089330]	pathogenic\|uncertain significance	14	24082562	24082562	Human	3	name
26905284	CV841332	deletion	NM_001354768.3(NRL):c.654del (p.Cys219fs)	NRL-related disorder [RCV003906165]\|Retinal dystrophy [RCV001073699]\|Retinitis pigmentosa 27 [RCV001335383]\|not provided [RCV001057910]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	14	24081296	24081296	Human	3	name , trait , alternate_id
26886064	CV841337	single nucleotide variant	NM_001354768.3(NRL):c.187G>A (p.Glu63Lys)	not provided [RCV001054496]	uncertain significance	14	24082662	24082662	Human		name
28868020	CV871747	single nucleotide variant	NM_001354768.3(NRL):c.227C>T (p.Ala76Val)	Retinitis pigmentosa [RCV001112201]\|not provided [RCV001319005]	uncertain significance	14	24082622	24082622	Human	2	name
28873799	CV871748	single nucleotide variant	NM_001354768.3(NRL):c.227C>G (p.Ala76Gly)	Retinitis pigmentosa [RCV001115180]	uncertain significance	14	24082622	24082622	Human	2	name
34891466	CV904589	single nucleotide variant	NM_001354768.3(NRL):c.152C>T (p.Pro51Leu)	Retinal dystrophy [RCV003890340]\|not provided [RCV001172074]	pathogenic\|likely pathogenic	14	24082697	24082697	Human	2	name
38490731	CV927011	single nucleotide variant	NM_001354768.3(NRL):c.172A>G (p.Met58Val)	not provided [RCV001222347]	uncertain significance	14	24082677	24082677	Human		name
38481277	CV927012	single nucleotide variant	NM_001354768.3(NRL):c.103C>A (p.Pro35Thr)	not provided [RCV001217934]	uncertain significance	14	24082746	24082746	Human		name
38483258	CV936592	single nucleotide variant	NM_001354768.3(NRL):c.151C>A (p.Pro51Thr)	not provided [RCV001207576]	pathogenic	14	24082698	24082698	Human		name
38493556	CV957197	single nucleotide variant	NM_001354768.3(NRL):c.149C>T (p.Ser50Leu)	Retinal dystrophy [RCV003887951]\|not provided [RCV001240748]	pathogenic\|likely pathogenic	14	24082700	24082700	Human	2	name
150330414	CV983580	single nucleotide variant	NM_001354768.3(NRL):c.238C>T (p.Gln80Ter)	Retinitis pigmentosa [RCV001535429]	pathogenic	14	24082611	24082611	Human	2	name
126734572	CV995786	single nucleotide variant	NM_001354768.3(NRL):c.125C>A (p.Thr42Lys)	not provided [RCV001304460]	uncertain significance	14	24082724	24082724	Human		name
126743067	CV1011058	single nucleotide variant	NM_001354768.3(NRL):c.616G>A (p.Ala206Thr)	not provided [RCV001314748]	uncertain significance	14	24081334	24081334	Human		name
126746689	CV1011059	single nucleotide variant	NM_001354768.3(NRL):c.335G>T (p.Gly112Val)	not provided [RCV001326044]	uncertain significance	14	24082514	24082514	Human		name
126771046	CV1031551	single nucleotide variant	NM_001354768.3(NRL):c.550C>G (p.Arg184Gly)	not provided [RCV001344811]	uncertain significance	14	24081400	24081400	Human		name
126774466	CV1031552	single nucleotide variant	NM_001354768.3(NRL):c.476G>A (p.Arg159Gln)	not provided [RCV001347261]	uncertain significance	14	24081474	24081474	Human		name
126773819	CV1031553	single nucleotide variant	NM_001354768.3(NRL):c.364G>A (p.Gly122Arg)	Inborn genetic diseases [RCV004036492]\|not provided [RCV001346507]	uncertain significance	14	24082485	24082485	Human	1	name
126913999	CV1038278	single nucleotide variant	NM_001354768.3(NRL):c.496A>T (p.Thr166Ser)	not provided [RCV001357883]	uncertain significance	14	24081454	24081454	Human		name
126922102	CV1048507	single nucleotide variant	NM_001354768.3(NRL):c.338A>G (p.Tyr113Cys)	not provided [RCV001364273]	uncertain significance	14	24082511	24082511	Human		name
127307110	CV1157204	single nucleotide variant	NM_001354768.3(NRL):c.703C>T (p.Leu235Phe)	NRL-related disorder [RCV003931095]\|not provided [RCV001516940]	benign	14	24081247	24081247	Human	1	name , trait , alternate_id
150438461	CV1286884	single nucleotide variant	NM_001354768.3(NRL):c.559C>A (p.Leu187Met)	Retinitis pigmentosa [RCV001724798]\|not provided [RCV002539736]	uncertain significance	14	24081391	24081391	Human	2	name
151233277	CV1320189	single nucleotide variant	NM_001354768.3(NRL):c.619C>T (p.Arg207Cys)	Retinitis pigmentosa 27 [RCV001799579]	likely pathogenic	14	24081331	24081331	Human	1	name
151842506	CV1339050	single nucleotide variant	NM_001354768.3(NRL):c.425T>A (p.Val142Glu)	not provided [RCV001977872]	uncertain significance	14	24081525	24081525	Human		name
151763433	CV1339230	single nucleotide variant	NM_001354768.3(NRL):c.374A>C (p.His125Pro)	not provided [RCV002008133]	uncertain significance	14	24082475	24082475	Human		name
151863994	CV1346454	single nucleotide variant	NM_001354768.3(NRL):c.604C>T (p.Arg202Trp)	not provided [RCV001959597]	uncertain significance	14	24081346	24081346	Human		name
151856809	CV1347837	single nucleotide variant	NM_001354768.3(NRL):c.677G>T (p.Gly226Val)	not provided [RCV001979625]	uncertain significance	14	24081273	24081273	Human		name
151833891	CV1384728	single nucleotide variant	NM_001354768.3(NRL):c.599C>A (p.Ala200Glu)	not provided [RCV001955952]	uncertain significance	14	24081351	24081351	Human		name
151790815	CV1402858	single nucleotide variant	NM_001354768.3(NRL):c.350G>T (p.Ser117Ile)	not provided [RCV001898161]	uncertain significance	14	24082499	24082499	Human		name
151805818	CV1403647	single nucleotide variant	NM_001354768.3(NRL):c.497C>T (p.Thr166Met)	Inborn genetic diseases [RCV005374941]\|not provided [RCV002011978]	uncertain significance	14	24081453	24081453	Human	1	name
151841495	CV1423763	single nucleotide variant	NM_001354768.3(NRL):c.469G>A (p.Ala157Thr)	not provided [RCV001977750]	uncertain significance	14	24081481	24081481	Human		name
151770473	CV1429147	single nucleotide variant	NM_001354768.3(NRL):c.326G>A (p.Gly109Glu)	not provided [RCV001988188]	uncertain significance	14	24082523	24082523	Human		name
151782207	CV1439350	single nucleotide variant	NM_001354768.3(NRL):c.628C>G (p.Arg210Gly)	not provided [RCV002009849]	uncertain significance	14	24081322	24081322	Human		name
151722906	CV1442717	single nucleotide variant	NM_001354768.3(NRL):c.412G>C (p.Val138Leu)	not provided [RCV002040321]	uncertain significance	14	24081538	24081538	Human		name
151832946	CV1456103	single nucleotide variant	NM_001354768.3(NRL):c.556G>A (p.Gly186Arg)	not provided [RCV002050903]	uncertain significance	14	24081394	24081394	Human		name
151782613	CV1469079	single nucleotide variant	NM_001354768.3(NRL):c.494G>C (p.Arg165Pro)	not provided [RCV002026403]	uncertain significance	14	24081456	24081456	Human		name
151887843	CV1472092	single nucleotide variant	NM_001354768.3(NRL):c.461G>A (p.Arg154His)	not provided [RCV002000963]	uncertain significance	14	24081489	24081489	Human		name
151864874	CV1477365	single nucleotide variant	NM_001354768.3(NRL):c.416C>G (p.Ser139Trp)	not provided [RCV001939033]	uncertain significance	14	24081534	24081534	Human		name
151727811	CV1495420	single nucleotide variant	NM_001354768.3(NRL):c.514T>A (p.Tyr172Asn)	not provided [RCV002040892]	uncertain significance	14	24081436	24081436	Human		name
151773376	CV1504902	single nucleotide variant	NM_001354768.3(NRL):c.691G>A (p.Asp231Asn)	Inborn genetic diseases [RCV004651894]\|not provided [RCV001988452]	uncertain significance	14	24081259	24081259	Human	1	name
151869981	CV1516849	single nucleotide variant	NM_001354768.3(NRL):c.420G>A (p.Met140Ile)	not provided [RCV001981169]	uncertain significance	14	24081530	24081530	Human		name
155728110	CV1773831	single nucleotide variant	NM_001354768.3(NRL):c.671C>G (p.Ser224Trp)	not provided [RCV002301584]	uncertain significance	14	24081279	24081279	Human		name
155734093	CV1774375	single nucleotide variant	NM_001354768.3(NRL):c.693C>G (p.Asp231Glu)	not provided [RCV002301831]	uncertain significance	14	24081257	24081257	Human		name
156223983	CV1875615	single nucleotide variant	NM_001354768.3(NRL):c.439C>T (p.Arg147Trp)	not provided [RCV003059053]	uncertain significance	14	24081511	24081511	Human		name
155983920	CV1883820	single nucleotide variant	NM_001354768.3(NRL):c.652C>T (p.Arg218Cys)	Retinal dystrophy [RCV003889232]\|not provided [RCV003075796]	uncertain significance	14	24081298	24081298	Human	2	name
156304300	CV1916312	single nucleotide variant	NM_001354768.3(NRL):c.392G>C (p.Arg131Pro)	not provided [RCV002599322]	uncertain significance	14	24081558	24081558	Human		name
156409858	CV1961984	single nucleotide variant	NM_001354768.3(NRL):c.418A>C (p.Met140Leu)	not provided [RCV002586960]	uncertain significance	14	24081532	24081532	Human		name
156260120	CV2000463	single nucleotide variant	NM_001354768.3(NRL):c.365G>C (p.Gly122Ala)	not provided [RCV002627737]	uncertain significance	14	24082484	24082484	Human		name
156353724	CV2154004	single nucleotide variant	NM_001354768.3(NRL):c.619C>G (p.Arg207Gly)	not provided [RCV003031071]	uncertain significance	14	24081331	24081331	Human		name
155984794	CV2159611	single nucleotide variant	NM_001354768.3(NRL):c.301G>A (p.Gly101Ser)	not provided [RCV003034046]	uncertain significance	14	24082548	24082548	Human		name
156204543	CV2244667	single nucleotide variant	NM_001354768.3(NRL):c.491G>T (p.Arg164Leu)	Inborn genetic diseases [RCV002743662]	uncertain significance	14	24081459	24081459	Human	1	name
155921021	CV2276239	single nucleotide variant	NM_001354768.3(NRL):c.617C>A (p.Ala206Asp)	Inborn genetic diseases [RCV002859669]	uncertain significance	14	24081333	24081333	Human	1	name
401910354	CV2810311	single nucleotide variant	NM_001354768.3(NRL):c.518C>T (p.Ala173Val)	not provided [RCV003424985]	uncertain significance	14	24081432	24081432	Human		name
8564019	CV29083	single nucleotide variant	NM_001354768.3(NRL):c.479T>C (p.Leu160Pro)	Retinal degeneration, autosomal recessive, clumped pigment type [RCV000015088]\|not provided [RCV003556022]	pathogenic\|likely pathogenic	14	24081471	24081471	Human	1	name
405178642	CV2913095	single nucleotide variant	NM_001354768.3(NRL):c.565G>A (p.Ala189Thr)	not provided [RCV003563761]	uncertain significance	14	24081385	24081385	Human		name
405205784	CV2913307	single nucleotide variant	NM_001354768.3(NRL):c.467A>G (p.Glu156Gly)	not provided [RCV003566483]	uncertain significance	14	24081483	24081483	Human		name
405169473	CV2951157	single nucleotide variant	NM_001354768.3(NRL):c.635G>A (p.Arg212His)	Inborn genetic diseases [RCV005387217]\|not provided [RCV003675301]	uncertain significance	14	24081315	24081315	Human	1	name
405139942	CV2954640	single nucleotide variant	NM_001354768.3(NRL):c.535A>C (p.Lys179Gln)	not provided [RCV003673066]	uncertain significance	14	24081415	24081415	Human		name
405228091	CV2963660	single nucleotide variant	NM_001354768.3(NRL):c.709C>T (p.Leu237Phe)	not provided [RCV003681715]	uncertain significance	14	24081241	24081241	Human		name
405140689	CV2970433	single nucleotide variant	NM_001354768.3(NRL):c.712T>C (p.Ter238Arg)	not provided [RCV003669098]	uncertain significance	14	24081238	24081238	Human		name
405198819	CV3032879	single nucleotide variant	NM_001354768.3(NRL):c.413T>C (p.Val138Ala)	not provided [RCV003707239]	uncertain significance	14	24081537	24081537	Human		name
405196763	CV3138745	single nucleotide variant	NM_001354768.3(NRL):c.488G>A (p.Arg163Lys)	not provided [RCV003821561]	uncertain significance	14	24081462	24081462	Human		name
405092841	CV3164104	single nucleotide variant	NM_001354768.3(NRL):c.383T>C (p.Leu128Pro)	not provided [RCV003852419]	uncertain significance	14	24081567	24081567	Human		name
405263116	CV3188582	single nucleotide variant	NM_001354768.3(NRL):c.371A>C (p.Gln124Pro)	Retinal dystrophy [RCV003889646]	likely pathogenic	14	24082478	24082478	Human	2	name
597690004	CV3576871	single nucleotide variant	NM_001354768.3(NRL):c.689G>C (p.Gly230Ala)	Inborn genetic diseases [RCV004954022]	uncertain significance	14	24081261	24081261	Human	1	name
597690013	CV3576872	single nucleotide variant	NM_001354768.3(NRL):c.470C>G (p.Ala157Gly)	Inborn genetic diseases [RCV004954023]	uncertain significance	14	24081480	24081480	Human	1	name
597690019	CV3576873	single nucleotide variant	NM_001354768.3(NRL):c.446T>C (p.Leu149Pro)	Inborn genetic diseases [RCV004954024]	uncertain significance	14	24081504	24081504	Human	1	name
597970881	CV3750558	single nucleotide variant	NM_001354768.3(NRL):c.392G>T (p.Arg131Leu)	not provided [RCV005084302]	uncertain significance	14	24081558	24081558	Human		name
597928095	CV3816092	single nucleotide variant	NM_001354768.3(NRL):c.524C>T (p.Ala175Val)	not provided [RCV005156673]	uncertain significance	14	24081426	24081426	Human		name
597848191	CV3824003	single nucleotide variant	NM_001354768.3(NRL):c.645C>G (p.Tyr215Ter)	not provided [RCV005173242]	uncertain significance	14	24081305	24081305	Human		name
597913799	CV3851046	single nucleotide variant	NM_001354768.3(NRL):c.685T>C (p.Ser229Pro)	not provided [RCV005204014]	uncertain significance	14	24081265	24081265	Human		name
598220403	CV3998129	single nucleotide variant	NM_001354768.3(NRL):c.507C>A (p.Asn169Lys)	Inborn genetic diseases [RCV005379501]	uncertain significance	14	24081443	24081443	Human	1	name
617154008	CV4022171	single nucleotide variant	NM_001354768.3(NRL):c.314T>C (p.Val105Ala)	not provided [RCV005429527]	uncertain significance	14	24082535	24082535	Human		name
13488226	CV445215	single nucleotide variant	NM_001354768.3(NRL):c.597C>G (p.Asp199Glu)	not provided [RCV000523499]	uncertain significance	14	24081353	24081353	Human		name
14395977	CV611783	single nucleotide variant	NM_001354768.3(NRL):c.544C>T (p.Gln182Ter)	Retinitis pigmentosa [RCV001535430]\|not provided [RCV000760699]	pathogenic\|conflicting interpretations of pathogenicity	14	24081406	24081406	Human	2	name
14396614	CV612304	single nucleotide variant	NM_001354768.3(NRL):c.339C>G (p.Tyr113Ter)	Retinitis pigmentosa 27 [RCV000761516]\|not provided [RCV002508787]	pathogenic\|likely pathogenic	14	24082510	24082510	Human	1	name
21074469	CV797023	single nucleotide variant	NM_001354768.3(NRL):c.375C>G (p.His125Gln)	Retinitis pigmentosa [RCV001112200]\|not provided [RCV000995161]	benign\|uncertain significance	14	24082474	24082474	Human	2	name
26884768	CV841333	single nucleotide variant	NM_001354768.3(NRL):c.607G>A (p.Ala203Thr)	not provided [RCV001052487]	uncertain significance	14	24081343	24081343	Human		name
26900273	CV841334	single nucleotide variant	NM_001354768.3(NRL):c.578G>A (p.Arg193His)	not provided [RCV001067673]	uncertain significance	14	24081372	24081372	Human		name
26920009	CV841335	single nucleotide variant	NM_001354768.3(NRL):c.521A>G (p.Gln174Arg)	not provided [RCV001046806]	uncertain significance	14	24081429	24081429	Human		name
26916592	CV841336	single nucleotide variant	NM_001354768.3(NRL):c.358G>A (p.Glu120Lys)	not provided [RCV001040656]	uncertain significance	14	24082491	24082491	Human		name
26910433	CV856778	single nucleotide variant	NM_001354768.3(NRL):c.620G>A (p.Arg207His)	Inborn genetic diseases [RCV003160600]\|Retinal dystrophy [RCV001074945]\|not provided [RCV002557919]	uncertain significance	14	24081330	24081330	Human	3	name
26909653	CV856779	single nucleotide variant	NM_001354768.3(NRL):c.516C>A (p.Tyr172Ter)	Retinal dystrophy [RCV001073789]\|not provided [RCV001382040]	pathogenic\|likely pathogenic	14	24081434	24081434	Human	2	name
26910640	CV856780	single nucleotide variant	NM_001354768.3(NRL):c.377T>G (p.Val126Gly)	Retinal dystrophy [RCV001075241]\|not provided [RCV001862847]	uncertain significance	14	24082472	24082472	Human	2	name
28868014	CV871745	single nucleotide variant	NM_001354768.3(NRL):c.425T>C (p.Val142Ala)	Retinitis pigmentosa [RCV001112197]\|not provided [RCV003660847]	uncertain significance	14	24081525	24081525	Human	2	name
28868015	CV871746	single nucleotide variant	NM_001354768.3(NRL):c.407C>T (p.Ala136Val)	Retinitis pigmentosa 27 [RCV002480481]\|Retinitis pigmentosa [RCV001112198]\|not provided [RCV001314554]	uncertain significance	14	24081543	24081543	Human	3	name
38474579	CV927009	single nucleotide variant	NM_001354768.3(NRL):c.589C>T (p.Gln197Ter)	not provided [RCV001214803]	pathogenic	14	24081361	24081361	Human		name
38490418	CV927010	single nucleotide variant	NM_001354768.3(NRL):c.515A>T (p.Tyr172Phe)	Inborn genetic diseases [RCV002563027]\|not provided [RCV001222143]	uncertain significance	14	24081435	24081435	Human	1	name
38480099	CV936589	single nucleotide variant	NM_001354768.3(NRL):c.527G>A (p.Cys176Tyr)	not provided [RCV001206249]	uncertain significance	14	24081423	24081423	Human		name
38473069	CV936590	single nucleotide variant	NM_001354768.3(NRL):c.469G>T (p.Ala157Ser)	not provided [RCV001203366]	uncertain significance	14	24081481	24081481	Human		name
38477285	CV936591	single nucleotide variant	NM_001354768.3(NRL):c.307G>A (p.Gly103Ser)	not provided [RCV001205021]	uncertain significance	14	24082542	24082542	Human		name
38460163	CV957196	single nucleotide variant	NM_001354768.3(NRL):c.313G>A (p.Val105Ile)	not provided [RCV001246695]	uncertain significance	14	24082536	24082536	Human		name
150330412	CV983579	single nucleotide variant	NM_001354768.3(NRL):c.713G>T (p.Ter238Leu)	Retinitis pigmentosa [RCV001535428]	pathogenic\|uncertain significance	14	24081237	24081237	Human	2	name
151735097	CV1435476	deletion	NM_001354768.3(NRL):c.517_544del (p.Ala173fs)	not provided [RCV001946476]	uncertain significance	14	24081406	24081433	Human		name
151807061	CV1505262	duplication	NM_001354768.3(NRL):c.459_477dup (p.Leu160fs)	not provided [RCV002048504]	pathogenic\|likely pathogenic	14	24081472	24081473	Human		name
596945771	CV3409117	microsatellite	NM_001354768.3(NRL):c.452_459dup (p.Arg154fs)	Clumped pigmentary retinal degeneration [RCV005419762]\|Retinal dystrophy [RCV004818751]	pathogenic\|likely pathogenic	14	24081490	24081491	Human		name
13612275	CV514042	duplication	NM_001354768.3(NRL):c.448_466dup (p.Glu156fs)	Foveal hypoplasia [RCV000626893]\|not provided [RCV002533155]	uncertain significance	14	24081483	24081484	Human	2	name
151730155	CV1420436	insertion	NM_001354768.3(NRL):c.539_540insC (p.Leu181fs)	not provided [RCV002041111]	uncertain significance	14	24081410	24081411	Human		name
156093168	CV2030722	insertion	NM_001354768.3(NRL):c.474_475insA (p.Arg159fs)	not provided [RCV002761024]	pathogenic	14	24081475	24081476	Human		name
596939377	CV3407763	indel	NM_001354768.3(NRL):c.512_513delinsTT (p.Gly171Val)	Retinal dystrophy [RCV004814223]	uncertain significance	14	24081437	24081438	Human		name
151744073	CV1494746	deletion	NM_001354768.3(NRL):c.532_537del (p.Ser178_Lys179del)	not provided [RCV001985534]	uncertain significance	14	24081413	24081418	Human		name
11351145	CV238068	duplication	NM_001354768.3(NRL):c.586_627dup (p.Ala196_Ala209dup)	Retinal dystrophy [RCV000225403]	uncertain significance	14	24081322	24081323	Human	2	name
21405083	CV800586	insertion	NM_001354768.3(NRL):c.444_445insGCTGCGGG (p.Leu149fs)	Retinitis pigmentosa [RCV001003097]	pathogenic	14	24081505	24081506	Human	2	name

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