Scaper Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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263 records found for search term Scaper

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
151235334	CV1318606	single nucleotide variant	NM_020843.4(SCAPER):c.-42T>A	Intellectual developmental disorder and retinitis pigmentosa; IDDRP [RCV001794934]\|not provided [RCV004715566]	benign	15	76883859	76883859	Human	1	name
151235332	CV1318604	single nucleotide variant	NM_020843.4(SCAPER):c.612-4A>G	Intellectual developmental disorder and retinitis pigmentosa; IDDRP [RCV001794932]\|SCAPER-related disorder [RCV003976188]\|not provided [RCV004716827]	benign	15	76795444	76795444	Human	1	name , trait , alternate_id
152154738	CV1667967	single nucleotide variant	NM_020843.4(SCAPER):c.125-1G>A	Intellectual developmental disorder and retinitis pigmentosa; IDDRP [RCV002221861]	likely pathogenic	15	76857880	76857880	Human	1	name
401916356	CV2814368	single nucleotide variant	NM_020843.4(SCAPER):c.195+6G>A	not provided [RCV003400953]	likely benign	15	76857803	76857803	Human		name
408366190	CV3516693	single nucleotide variant	NM_020843.4(SCAPER):c.495-4G>T	SCAPER-related disorder [RCV004755673]	likely benign	15	76800368	76800368	Human		name , trait , alternate_id
408380404	CV3517680	single nucleotide variant	NM_020843.4(SCAPER):c.772+7G>T	SCAPER-related disorder [RCV004754197]	likely benign	15	76795273	76795273	Human		name , trait , alternate_id
150544871	CV1315298	single nucleotide variant	NM_020843.4(SCAPER):c.2955-1G>T	Intellectual developmental disorder and retinitis pigmentosa; IDDRP [RCV001783713]\|SCAPER-related disorder [RCV004731179]	likely pathogenic	15	76471336	76471336	Human	1	name , trait , alternate_id
151235327	CV1318599	single nucleotide variant	NM_020843.4(SCAPER):c.3705+3A>G	Intellectual developmental disorder and retinitis pigmentosa; IDDRP [RCV001794927]\|SCAPER-related disorder [RCV003984109]\|not provided [RCV004716826]	benign	15	76381375	76381375	Human	1	name , trait , alternate_id
152080470	CV1666965	duplication	NM_020843.4(SCAPER):c.1867-5dup	SCAPER-related disorder [RCV003973344]\|not provided [RCV002211310]	likely benign	15	76733388	76733389	Human	1	name , trait , alternate_id
156171652	CV2247461	single nucleotide variant	NM_020843.4(SCAPER):c.4099+2T>C	Inborn genetic diseases [RCV002788092]	uncertain significance	15	76351235	76351235	Human	1	name
401934425	CV2814364	single nucleotide variant	NM_020843.4(SCAPER):c.3079-8T>C	not provided [RCV003411186]	likely benign	15	76434318	76434318	Human		name
405280039	CV3191647	single nucleotide variant	NM_020843.4(SCAPER):c.1866+8A>G	Retinal dystrophy [RCV004818439]\|SCAPER-related disorder [RCV003919786]	benign\|uncertain significance	15	76753800	76753800	Human	3	name , trait , alternate_id
405286401	CV3192113	single nucleotide variant	NM_020843.4(SCAPER):c.2712-7A>G	SCAPER-related disorder [RCV003924029]	likely benign	15	76574291	76574291	Human		name , trait , alternate_id
405290332	CV3207472	single nucleotide variant	NM_020843.4(SCAPER):c.1496-9T>C	Optic atrophy [RCV004818440]\|SCAPER-related disorder [RCV003927054]	benign\|uncertain significance	15	76765463	76765463	Human	3	name , trait , alternate_id
408365708	CV3509580	single nucleotide variant	NM_020843.4(SCAPER):c.1726-4G>A	SCAPER-related disorder [RCV004755229]	likely benign	15	76753952	76753952	Human		name , trait , alternate_id
408365835	CV3510571	single nucleotide variant	NM_020843.4(SCAPER):c.1036-9T>A	SCAPER-related disorder [RCV004755298]	likely benign	15	76771963	76771963	Human		name , trait , alternate_id
408365989	CV3513496	single nucleotide variant	NM_020843.4(SCAPER):c.1420-8C>T	SCAPER-related disorder [RCV004755485]	likely benign	15	76765646	76765646	Human		name , trait , alternate_id
408380431	CV3517447	single nucleotide variant	NM_020843.4(SCAPER):c.1496-4A>G	SCAPER-related disorder [RCV004754180]	likely benign	15	76765458	76765458	Human		name , trait , alternate_id
13509359	CV413182	single nucleotide variant	NM_020843.4(SCAPER):c.2023-2A>G	Intellectual developmental disorder and retinitis pigmentosa; IDDRP [RCV000722053]\|Retinitis pigmentosa [RCV000578475]\|Syndromic retinitis pigmentosa [RCV001003221]	pathogenic	15	76728739	76728739	Human	3	name
15184158	CV776423	single nucleotide variant	NM_020843.4(SCAPER):c.3312-4C>G	not provided [RCV000930746]	benign	15	76404683	76404683	Human		name
15179915	CV779825	single nucleotide variant	NM_020843.4(SCAPER):c.3312-7T>C	SCAPER-related disorder [RCV003928571]\|not provided [RCV000974025]	benign	15	76404686	76404686	Human	1	name , trait , alternate_id
15173949	CV789151	single nucleotide variant	NM_020843.4(SCAPER):c.2166-3C>G	Intellectual developmental disorder and retinitis pigmentosa; IDDRP [RCV000984531]	likely pathogenic	15	76705987	76705987	Human	1	name
15173945	CV789152	single nucleotide variant	NM_020843.4(SCAPER):c.1495+1G>A	Intellectual developmental disorder and retinitis pigmentosa; IDDRP [RCV000984526]	likely pathogenic	15	76765562	76765562	Human	1	name
151235329	CV1318601	single nucleotide variant	NM_020843.4(SCAPER):c.3078+39G>T	Intellectual developmental disorder and retinitis pigmentosa; IDDRP [RCV001794929]\|not provided [RCV004715562]	benign	15	76471173	76471173	Human	1	name
151235330	CV1318602	single nucleotide variant	NM_020843.4(SCAPER):c.2645+36T>C	Intellectual developmental disorder and retinitis pigmentosa; IDDRP [RCV001794930]\|not provided [RCV004715563]	benign	15	76665617	76665617	Human	1	name
408365741	CV3509942	single nucleotide variant	NM_020843.4(SCAPER):c.1248+25A>G	SCAPER-related disorder [RCV004755258]	likely benign	15	76771717	76771717	Human		name , trait , alternate_id
408366094	CV3513799	single nucleotide variant	NM_020843.4(SCAPER):c.2839-10T>G	SCAPER-related disorder [RCV004755499]	likely benign	15	76504984	76504984	Human		name , trait , alternate_id
151235331	CV1318603	single nucleotide variant	NM_020843.4(SCAPER):c.772+1881G>T	Intellectual developmental disorder and retinitis pigmentosa; IDDRP [RCV001794931]\|not provided [RCV004715564]	benign	15	76793399	76793399	Human	1	name
15102098	CV703348	single nucleotide variant	NM_020843.4(SCAPER):c.24C>T (p.Ser8=)	not provided [RCV000959225]	benign\|likely benign	15	76862516	76862516	Human		name
8584573	CV119147	single nucleotide variant	NM_001145923.1(SCAPER):c.1908-10590A>G	Lung cancer [RCV000099667]	uncertain significance	15	76632419	76632419	Human		name
151235333	CV1318605	single nucleotide variant	NM_020843.4(SCAPER):c.1A>G (p.Met1Val)	Intellectual developmental disorder and retinitis pigmentosa; IDDRP [RCV001794933]\|SCAPER-related disorder [RCV003976189]\|not provided [RCV004715565]	benign	15	76883817	76883817	Human	1	name , trait , alternate_id
152154734	CV1667966	single nucleotide variant	NM_020843.4(SCAPER):c.42A>G (p.Val14=)	not provided [RCV002221860]	uncertain significance	15	76862498	76862498	Human		name
156291107	CV2324971	single nucleotide variant	NM_020843.4(SCAPER):c.49A>C (p.Ile17Leu)	Inborn genetic diseases [RCV002935616]	uncertain significance	15	76862491	76862491	Human	1	name
405285133	CV3202451	single nucleotide variant	NM_020843.4(SCAPER):c.726C>T (p.Ala242=)	SCAPER-related disorder [RCV003909717]	likely benign	15	76795326	76795326	Human		name , trait , alternate_id
405286678	CV3213775	single nucleotide variant	NM_020843.4(SCAPER):c.627A>T (p.Thr209=)	SCAPER-related disorder [RCV003924175]	likely benign	15	76795425	76795425	Human		name , trait , alternate_id
408384714	CV3503384	single nucleotide variant	NM_020843.4(SCAPER):c.720A>G (p.Thr240=)	SCAPER-related disorder [RCV004732044]	likely benign	15	76795332	76795332	Human		name , trait , alternate_id
408365925	CV3511060	single nucleotide variant	NM_020843.4(SCAPER):c.510A>C (p.Ala170=)	SCAPER-related disorder [RCV004755336]	likely benign	15	76800349	76800349	Human		name , trait , alternate_id
408366184	CV3516596	single nucleotide variant	NM_020843.4(SCAPER):c.909A>G (p.Val303=)	SCAPER-related disorder [RCV004755668]	likely benign	15	76774981	76774981	Human		name , trait , alternate_id
597632618	CV3601656	single nucleotide variant	NM_020843.4(SCAPER):c.73G>A (p.Ala25Thr)	Inborn genetic diseases [RCV004968879]	uncertain significance	15	76862467	76862467	Human	1	name
15128002	CV714625	single nucleotide variant	NM_020843.4(SCAPER):c.95G>A (p.Ser32Asn)	Intellectual developmental disorder and retinitis pigmentosa; IDDRP [RCV002489371]\|SCAPER-related disorder [RCV003960752]\|not provided [RCV000964006]	benign\|likely benign	15	76862445	76862445	Human	1	name , trait , alternate_id
15113177	CV754692	single nucleotide variant	NM_020843.4(SCAPER):c.972T>C (p.Thr324=)	SCAPER-related disorder [RCV004754629]\|not provided [RCV000917045]	likely benign	15	76774918	76774918	Human	1	name , trait , alternate_id
15193201	CV770352	single nucleotide variant	NM_020843.4(SCAPER):c.330T>G (p.Leu110=)	SCAPER-related disorder [RCV003942916]\|not provided [RCV000933299]	benign\|likely benign	15	76841797	76841797	Human	1	name , trait , alternate_id
155683232	CV1784689	single nucleotide variant	NM_020843.4(SCAPER):c.213T>G (p.Cys71Trp)	Intellectual developmental disorder and retinitis pigmentosa; IDDRP [RCV002310613]	uncertain significance	15	76841914	76841914	Human	1	name
156095876	CV2253074	single nucleotide variant	NM_020843.4(SCAPER):c.187A>G (p.Thr63Ala)	Inborn genetic diseases [RCV002798810]\|SCAPER-related disorder [RCV004754942]	uncertain significance	15	76857817	76857817	Human	2	name , trait , alternate_id
156180054	CV2356060	single nucleotide variant	NM_020843.4(SCAPER):c.145G>C (p.Gly49Arg)	Inborn genetic diseases [RCV002983986]\|SCAPER-related disorder [RCV004754955]	uncertain significance	15	76857859	76857859	Human	2	name , trait , alternate_id
156004684	CV2357588	single nucleotide variant	NM_020843.4(SCAPER):c.188C>T (p.Thr63Ile)	Inborn genetic diseases [RCV002997281]	uncertain significance	15	76857816	76857816	Human	1	name
401916351	CV2814365	single nucleotide variant	NM_020843.4(SCAPER):c.2973C>A (p.Ile991=)	not provided [RCV003400951]	likely benign	15	76471317	76471317	Human		name
401916354	CV2814366	single nucleotide variant	NM_020843.4(SCAPER):c.2775A>G (p.Ala925=)	SCAPER-related disorder [RCV003929060]\|not provided [RCV003400952]	likely benign	15	76574221	76574221	Human	1	name , trait , alternate_id
401934424	CV2814367	single nucleotide variant	NM_020843.4(SCAPER):c.2511G>A (p.Glu837=)	SCAPER-related disorder [RCV003938928]\|not provided [RCV003411187]	likely benign	15	76665787	76665787	Human	1	name , trait , alternate_id
405260020	CV3186520	single nucleotide variant	NM_020843.4(SCAPER):c.1365A>G (p.Glu455=)	not provided [RCV003884279]	likely benign	15	76766972	76766972	Human		name
405279469	CV3206970	single nucleotide variant	NM_020843.4(SCAPER):c.1905G>A (p.Gln635=)	SCAPER-related disorder [RCV003919525]	benign	15	76733346	76733346	Human		name , trait , alternate_id
405270327	CV3211370	single nucleotide variant	NM_020843.4(SCAPER):c.2622G>A (p.Lys874=)	SCAPER-related disorder [RCV003949270]	likely benign	15	76665676	76665676	Human		name , trait , alternate_id
405293847	CV3214629	single nucleotide variant	NM_020843.4(SCAPER):c.2496A>G (p.Ser832=)	SCAPER-related disorder [RCV003932287]	benign	15	76701770	76701770	Human		name , trait , alternate_id
405270686	CV3219676	single nucleotide variant	NM_020843.4(SCAPER):c.1473C>T (p.Asn491=)	SCAPER-related disorder [RCV003971436]	likely benign	15	76765585	76765585	Human		name , trait , alternate_id
407514418	CV3483866	single nucleotide variant	NM_020843.4(SCAPER):c.212G>A (p.Cys71Tyr)	Inborn genetic diseases [RCV004674537]	uncertain significance	15	76841915	76841915	Human	1	name
407461193	CV3483868	single nucleotide variant	NM_020843.4(SCAPER):c.221C>T (p.Thr74Ile)	Inborn genetic diseases [RCV004658648]	uncertain significance	15	76841906	76841906	Human	1	name
408384891	CV3506461	single nucleotide variant	NM_020843.4(SCAPER):c.1011C>T (p.Asp337=)	SCAPER-related disorder [RCV004732202]	likely benign	15	76774879	76774879	Human		name , trait , alternate_id
408365881	CV3511126	single nucleotide variant	NM_020843.4(SCAPER):c.2346C>A (p.Ala782=)	SCAPER-related disorder [RCV004755341]	likely benign	15	76702904	76702904	Human		name , trait , alternate_id
408366204	CV3516823	single nucleotide variant	NM_020843.4(SCAPER):c.2247G>A (p.Lys749=)	SCAPER-related disorder [RCV004755685]	likely benign	15	76705903	76705903	Human		name , trait , alternate_id
596948196	CV3549277	single nucleotide variant	NM_020843.4(SCAPER):c.1566G>A (p.Gly522=)	not provided [RCV004812097]	likely benign	15	76765384	76765384	Human		name
598129855	CV3887277	single nucleotide variant	NM_020843.4(SCAPER):c.2208A>G (p.Gln736=)	not provided [RCV005245337]	likely benign	15	76705942	76705942	Human		name
598196173	CV3900276	single nucleotide variant	NM_020843.4(SCAPER):c.143C>G (p.Thr48Ser)	Inborn genetic diseases [RCV005267897]	uncertain significance	15	76857861	76857861	Human	1	name
598196191	CV3900281	single nucleotide variant	NM_020843.4(SCAPER):c.170A>C (p.Gln57Pro)	Inborn genetic diseases [RCV005267902]	uncertain significance	15	76857834	76857834	Human	1	name
15175198	CV714623	single nucleotide variant	NM_020843.4(SCAPER):c.2004A>T (p.Ala668=)	SCAPER-related disorder [RCV003928543]\|not provided [RCV000972888]	benign	15	76733247	76733247	Human	1	name , trait , alternate_id
15197864	CV726263	single nucleotide variant	NM_020843.4(SCAPER):c.1884T>C (p.Phe628=)	not provided [RCV000890188]	benign	15	76733367	76733367	Human		name
15197868	CV726264	single nucleotide variant	NM_020843.4(SCAPER):c.224C>T (p.Ser75Leu)	SCAPER-related disorder [RCV003968110]\|not provided [RCV000890189]	benign	15	76841903	76841903	Human	1	name , trait , alternate_id
15178172	CV739795	single nucleotide variant	NM_020843.4(SCAPER):c.2457C>T (p.Ala819=)	SCAPER-related disorder [RCV003895516]\|not provided [RCV000906813]	benign\|likely benign	15	76701809	76701809	Human	1	name , trait , alternate_id
15126982	CV739796	single nucleotide variant	NM_020843.4(SCAPER):c.2322G>A (p.Gly774=)	SCAPER-related disorder [RCV003940788]\|not provided [RCV000897026]	benign\|likely benign	15	76702928	76702928	Human	1	name , trait , alternate_id
15160155	CV739797	single nucleotide variant	NM_020843.4(SCAPER):c.2043G>A (p.Glu681=)	SCAPER-related disorder [RCV003910782]\|not provided [RCV000903087]	benign	15	76728717	76728717	Human	1	name , trait , alternate_id
15129703	CV739798	single nucleotide variant	NM_020843.4(SCAPER):c.230C>T (p.Thr77Met)	SCAPER-related disorder [RCV004754616]\|not provided [RCV000897484]	likely benign	15	76841897	76841897	Human	1	name , trait , alternate_id
15112652	CV754690	single nucleotide variant	NM_020843.4(SCAPER):c.2415A>T (p.Val805=)	SCAPER-related disorder [RCV004754628]\|not provided [RCV000916951]	likely benign	15	76701851	76701851	Human	1	name , trait , alternate_id
15196866	CV754691	single nucleotide variant	NM_020843.4(SCAPER):c.1728G>A (p.Glu576=)	SCAPER-related disorder [RCV003923168]\|not provided [RCV000911816]	benign\|likely benign	15	76753946	76753946	Human	1	name , trait , alternate_id
15105146	CV770351	single nucleotide variant	NM_020843.4(SCAPER):c.2289A>G (p.Gln763=)	not provided [RCV000937529]	likely benign	15	76702961	76702961	Human		name
15143837	CV785030	single nucleotide variant	NM_020843.4(SCAPER):c.2787G>A (p.Val929=)	not provided [RCV000983393]	likely benign	15	76574209	76574209	Human		name
126913089	CV1038359	single nucleotide variant	NM_020843.4(SCAPER):c.939A>C (p.Lys313Asn)	not provided [RCV001357053]	uncertain significance	15	76774951	76774951	Human		name
151348028	CV1325256	single nucleotide variant	NM_020843.4(SCAPER):c.334C>T (p.Arg112Ter)	Intellectual developmental disorder and retinitis pigmentosa; IDDRP [RCV001813898]	likely pathogenic	15	76841793	76841793	Human	1	name
156063629	CV2199947	single nucleotide variant	NM_020843.4(SCAPER):c.897T>G (p.Asp299Glu)	Inborn genetic diseases [RCV002659826]	uncertain significance	15	76774993	76774993	Human	1	name
156273232	CV2202471	single nucleotide variant	NM_020843.4(SCAPER):c.419A>G (p.Tyr140Cys)	Inborn genetic diseases [RCV002669677]	uncertain significance	15	76804608	76804608	Human	1	name
156175273	CV2254650	single nucleotide variant	NM_020843.4(SCAPER):c.740C>T (p.Pro247Leu)	Inborn genetic diseases [RCV002788295]	uncertain significance	15	76795312	76795312	Human	1	name
156143598	CV2296328	deletion	NM_020843.4(SCAPER):c.2436del (p.Arg814fs)	Inborn genetic diseases [RCV002850455]	pathogenic	15	76701830	76701830	Human	1	name
156280367	CV2315973	single nucleotide variant	NM_020843.4(SCAPER):c.982C>T (p.His328Tyr)	Inborn genetic diseases [RCV002934899]	uncertain significance	15	76774908	76774908	Human	1	name
156292039	CV2339988	single nucleotide variant	NM_020843.4(SCAPER):c.764G>A (p.Arg255His)	Inborn genetic diseases [RCV002961686]	uncertain significance	15	76795288	76795288	Human	1	name
155909004	CV2387492	single nucleotide variant	NM_020843.4(SCAPER):c.3468G>A (p.Arg1156=)	Inborn genetic diseases [RCV002749919]\|Retinal dystrophy [RCV004818280]\|SCAPER-related disorder [RCV003906633]\|not provided [RCV003396884]	likely benign\|uncertain significance	15	76381615	76381615	Human	4	name , trait , alternate_id
329375886	CV2431655	single nucleotide variant	NM_020843.4(SCAPER):c.700A>G (p.Thr234Ala)	Inborn genetic diseases [RCV003173958]	uncertain significance	15	76795352	76795352	Human	1	name
329362912	CV2449541	single nucleotide variant	NM_020843.4(SCAPER):c.634G>A (p.Ala212Thr)	Inborn genetic diseases [RCV003181129]	uncertain significance	15	76795418	76795418	Human	1	name
329374349	CV2463387	single nucleotide variant	NM_020843.4(SCAPER):c.848C>T (p.Pro283Leu)	Inborn genetic diseases [RCV003210719]	uncertain significance	15	76775042	76775042	Human	1	name
401761811	CV2726917	single nucleotide variant	NM_020843.4(SCAPER):c.563C>T (p.Thr188Ile)	Inborn genetic diseases [RCV003299982]	uncertain significance	15	76800296	76800296	Human	1	name
401880934	CV2787728	single nucleotide variant	NM_020843.4(SCAPER):c.763C>T (p.Arg255Cys)	Inborn genetic diseases [RCV003364799]\|not provided [RCV004696530]	uncertain significance	15	76795289	76795289	Human	1	name
401916345	CV2814362	single nucleotide variant	NM_020843.4(SCAPER):c.3861C>T (p.Ile1287=)	not provided [RCV003400949]	likely benign	15	76354135	76354135	Human		name
401940466	CV2839309	single nucleotide variant	NM_020843.4(SCAPER):c.776G>A (p.Arg259Gln)	Intellectual developmental disorder and retinitis pigmentosa; IDDRP [RCV003448867]	uncertain significance	15	76775114	76775114	Human	1	name
405743071	CV3317163	single nucleotide variant	NM_020843.4(SCAPER):c.568A>G (p.Arg190Gly)	Inborn genetic diseases [RCV004452684]	uncertain significance	15	76800291	76800291	Human	1	name
405743077	CV3317164	single nucleotide variant	NM_020843.4(SCAPER):c.652A>G (p.Thr218Ala)	Inborn genetic diseases [RCV004452685]	uncertain significance	15	76795400	76795400	Human	1	name
405743085	CV3317165	single nucleotide variant	NM_020843.4(SCAPER):c.689A>G (p.His230Arg)	Inborn genetic diseases [RCV004452686]\|SCAPER-related disorder [RCV004755041]	uncertain significance	15	76795363	76795363	Human	2	name , trait , alternate_id
405743092	CV3317166	single nucleotide variant	NM_020843.4(SCAPER):c.965C>A (p.Ser322Tyr)	Inborn genetic diseases [RCV004452687]	uncertain significance	15	76774925	76774925	Human	1	name
596945482	CV3407461	duplication	NM_020843.4(SCAPER):c.2613dup (p.Ala872fs)	Retinal dystrophy [RCV004818553]	uncertain significance	15	76665684	76665685	Human	2	name
596941328	CV3408102	single nucleotide variant	NM_020843.4(SCAPER):c.820A>G (p.Ile274Val)	Retinal dystrophy [RCV004815773]	uncertain significance	15	76775070	76775070	Human	2	name
408380081	CV3408253	single nucleotide variant	NM_020843.4(SCAPER):c.839C>T (p.Ala280Val)	Retinal dystrophy [RCV004815924]\|SCAPER-related disorder [RCV004755050]	uncertain significance	15	76775051	76775051	Human	3	name , trait , alternate_id
407514417	CV3483865	single nucleotide variant	NM_020843.4(SCAPER):c.724G>A (p.Ala242Thr)	Inborn genetic diseases [RCV004674536]\|SCAPER-related disorder [RCV004755054]	likely benign	15	76795328	76795328	Human	2	name , trait , alternate_id
408383194	CV3504931	single nucleotide variant	NM_020843.4(SCAPER):c.967A>C (p.Asn323His)	SCAPER-related disorder [RCV004730488]	uncertain significance	15	76774923	76774923	Human		name , trait , alternate_id
408383239	CV3504997	single nucleotide variant	NM_020843.4(SCAPER):c.3063G>A (p.Leu1021=)	SCAPER-related disorder [RCV004730522]	likely benign	15	76471227	76471227	Human		name , trait , alternate_id
408384063	CV3506250	single nucleotide variant	NM_020843.4(SCAPER):c.3445C>T (p.Leu1149=)	SCAPER-related disorder [RCV004731462]	likely benign	15	76404546	76404546	Human		name , trait , alternate_id
408365647	CV3508894	single nucleotide variant	NM_020843.4(SCAPER):c.3870C>T (p.Ser1290=)	SCAPER-related disorder [RCV004755174]	likely benign	15	76354126	76354126	Human		name , trait , alternate_id
408365910	CV3511862	single nucleotide variant	NM_020843.4(SCAPER):c.3534C>T (p.Thr1178=)	SCAPER-related disorder [RCV004755378]	likely benign	15	76381549	76381549	Human		name , trait , alternate_id
408365968	CV3512436	single nucleotide variant	NM_020843.4(SCAPER):c.802G>A (p.Val268Ile)	SCAPER-related disorder [RCV004755419]	uncertain significance	15	76775088	76775088	Human		name , trait , alternate_id
408380416	CV3517172	single nucleotide variant	NM_020843.4(SCAPER):c.775C>T (p.Arg259Trp)	SCAPER-related disorder [RCV004754163]	uncertain significance	15	76775115	76775115	Human		name , trait , alternate_id
408380398	CV3517632	single nucleotide variant	NM_020843.4(SCAPER):c.306C>G (p.Tyr102Ter)	SCAPER-related disorder [RCV004754191]	likely pathogenic	15	76841821	76841821	Human		name , trait , alternate_id
408388126	CV3527371	single nucleotide variant	NM_020843.4(SCAPER):c.880T>C (p.Ser294Pro)	not provided [RCV004773674]	uncertain significance	15	76775010	76775010	Human		name
597632615	CV3601652	single nucleotide variant	NM_020843.4(SCAPER):c.613G>T (p.Gly205Cys)	Inborn genetic diseases [RCV004968878]	uncertain significance	15	76795439	76795439	Human	1	name
597696009	CV3601654	single nucleotide variant	NM_020843.4(SCAPER):c.736C>T (p.Pro246Ser)	Inborn genetic diseases [RCV004954828]	uncertain significance	15	76795316	76795316	Human	1	name
597696029	CV3601663	single nucleotide variant	NM_020843.4(SCAPER):c.703G>C (p.Ala235Pro)	Inborn genetic diseases [RCV004954832]	uncertain significance	15	76795349	76795349	Human	1	name
597632630	CV3601664	single nucleotide variant	NM_020843.4(SCAPER):c.761C>T (p.Ser254Leu)	Inborn genetic diseases [RCV004968883]	uncertain significance	15	76795291	76795291	Human	1	name
597696036	CV3601669	single nucleotide variant	NM_020843.4(SCAPER):c.670G>A (p.Asp224Asn)	Inborn genetic diseases [RCV004954833]	uncertain significance	15	76795382	76795382	Human	1	name
598196139	CV3900268	single nucleotide variant	NM_020843.4(SCAPER):c.478A>T (p.Thr160Ser)	Inborn genetic diseases [RCV005267889]	uncertain significance	15	76804549	76804549	Human	1	name
598196156	CV3900272	single nucleotide variant	NM_020843.4(SCAPER):c.619A>G (p.Thr207Ala)	Inborn genetic diseases [RCV005267893]	uncertain significance	15	76795433	76795433	Human	1	name
598196161	CV3900273	single nucleotide variant	NM_020843.4(SCAPER):c.823C>T (p.Arg275Cys)	Inborn genetic diseases [RCV005267894]	uncertain significance	15	76775067	76775067	Human	1	name
15200429	CV703344	single nucleotide variant	NM_020843.4(SCAPER):c.3639C>A (p.Ile1213=)	SCAPER-related disorder [RCV003915935]\|not provided [RCV000957325]	benign	15	76381444	76381444	Human	1	name , trait , alternate_id
15102092	CV703345	single nucleotide variant	NM_020843.4(SCAPER):c.3597C>T (p.Pro1199=)	not provided [RCV000959224]	benign\|likely benign	15	76381486	76381486	Human		name
15192274	CV703347	single nucleotide variant	NM_020843.4(SCAPER):c.835A>G (p.Thr279Ala)	Inborn genetic diseases [RCV004029865]\|SCAPER-related disorder [RCV003970773]\|not provided [RCV000955019]	likely benign	15	76775055	76775055	Human	2	name , trait , alternate_id
15181323	CV714619	single nucleotide variant	NM_020843.4(SCAPER):c.3882C>G (p.Pro1294=)	SCAPER-related disorder [RCV003928586]\|not provided [RCV000974364]	benign	15	76354114	76354114	Human	1	name , trait , alternate_id
15175863	CV714624	single nucleotide variant	NM_020843.4(SCAPER):c.977A>G (p.Glu326Gly)	not provided [RCV000973050]	benign	15	76774913	76774913	Human		name
15122977	CV739794	single nucleotide variant	NM_020843.4(SCAPER):c.3780A>G (p.Gln1260=)	SCAPER-related disorder [RCV003968195]\|not provided [RCV000896331]	benign\|likely benign	15	76376237	76376237	Human	1	name , trait , alternate_id
15195000	CV770350	single nucleotide variant	NM_020843.4(SCAPER):c.3109T>C (p.Leu1037=)	not provided [RCV000933807]	likely benign	15	76434280	76434280	Human		name
15122330	CV785029	single nucleotide variant	NM_020843.4(SCAPER):c.3966C>T (p.Ile1322=)	not provided [RCV000979627]	likely benign	15	76354030	76354030	Human		name
15173941	CV789147	duplication	NM_020843.4(SCAPER):c.2236dup (p.Ile746fs)	Intellectual developmental disorder and retinitis pigmentosa; IDDRP [RCV000984523]\|not provided [RCV002508274]	pathogenic\|likely pathogenic	15	76705913	76705914	Human	1	name
15173944	CV789149	deletion	NM_020843.4(SCAPER):c.1116del (p.Val373fs)	Intellectual developmental disorder and retinitis pigmentosa; IDDRP [RCV000984525]	likely pathogenic	15	76771874	76771874	Human	1	name
15173947	CV789150	single nucleotide variant	NM_020843.4(SCAPER):c.829C>T (p.Arg277Ter)	Intellectual developmental disorder and retinitis pigmentosa; IDDRP [RCV000984528]	likely pathogenic	15	76775061	76775061	Human	1	name
25314924	CV818310	deletion	NM_020843.4(SCAPER):c.2653del (p.Glu885fs)	Intellectual developmental disorder and retinitis pigmentosa; IDDRP [RCV001029901]	likely pathogenic	15	76621822	76621822	Human	1	name
150544873	CV1315299	single nucleotide variant	NM_020843.4(SCAPER):c.2290A>T (p.Arg764Ter)	Intellectual developmental disorder and retinitis pigmentosa; IDDRP [RCV001783714]	likely pathogenic	15	76702960	76702960	Human		name
156276651	CV2209795	single nucleotide variant	NM_020843.4(SCAPER):c.2975A>G (p.Asn992Ser)	Inborn genetic diseases [RCV002669887]	uncertain significance	15	76471315	76471315	Human	1	name
156328836	CV2216278	single nucleotide variant	NM_020843.4(SCAPER):c.2393A>G (p.Asn798Ser)	Inborn genetic diseases [RCV002717744]	uncertain significance	15	76702857	76702857	Human	1	name
156244086	CV2231568	single nucleotide variant	NM_020843.4(SCAPER):c.1300A>G (p.Lys434Glu)	Inborn genetic diseases [RCV002713563]	uncertain significance	15	76767037	76767037	Human	1	name
156130740	CV2235182	single nucleotide variant	NM_020843.4(SCAPER):c.1366G>A (p.Ala456Thr)	Inborn genetic diseases [RCV002762918]	uncertain significance	15	76766971	76766971	Human	1	name
156051696	CV2238076	single nucleotide variant	NM_020843.4(SCAPER):c.1157C>A (p.Ala386Asp)	Inborn genetic diseases [RCV002782059]	uncertain significance	15	76771833	76771833	Human	1	name
155973682	CV2239007	single nucleotide variant	NM_020843.4(SCAPER):c.2291G>A (p.Arg764Lys)	Inborn genetic diseases [RCV002777071]	uncertain significance	15	76702959	76702959	Human	1	name
156333022	CV2270474	single nucleotide variant	NM_020843.4(SCAPER):c.1256C>G (p.Ala419Gly)	Inborn genetic diseases [RCV002835421]	uncertain significance	15	76767081	76767081	Human	1	name
156161395	CV2272591	single nucleotide variant	NM_020843.4(SCAPER):c.2260A>T (p.Ile754Phe)	Inborn genetic diseases [RCV002827405]	uncertain significance	15	76702990	76702990	Human	1	name
156024288	CV2273851	single nucleotide variant	NM_020843.4(SCAPER):c.1199C>T (p.Ala400Val)	Inborn genetic diseases [RCV002844876]	uncertain significance	15	76771791	76771791	Human	1	name
156273088	CV2333988	single nucleotide variant	NM_020843.4(SCAPER):c.2908G>A (p.Val970Ile)	Inborn genetic diseases [RCV002960464]\|SCAPER-related disorder [RCV004754949]	uncertain significance	15	76504905	76504905	Human	2	name , trait , alternate_id
243064130	CV2410909	single nucleotide variant	NM_020843.4(SCAPER):c.1883T>C (p.Phe628Ser)	Intellectual developmental disorder and retinitis pigmentosa; IDDRP [RCV003142748]	uncertain significance	15	76733368	76733368	Human	1	name
243064131	CV2410910	single nucleotide variant	NM_020843.4(SCAPER):c.1382A>T (p.Asp461Val)	Intellectual developmental disorder and retinitis pigmentosa; IDDRP [RCV003142749]	uncertain significance	15	76766955	76766955	Human	1	name
243064132	CV2410911	single nucleotide variant	NM_020843.4(SCAPER):c.1250C>T (p.Ser417Phe)	Intellectual developmental disorder and retinitis pigmentosa; IDDRP [RCV003142750]	uncertain significance	15	76767087	76767087	Human	1	name
329360703	CV2462885	single nucleotide variant	NM_020843.4(SCAPER):c.2518T>C (p.Ser840Pro)	Inborn genetic diseases [RCV003205140]	uncertain significance	15	76665780	76665780	Human	1	name
329396091	CV2463247	single nucleotide variant	NM_020843.4(SCAPER):c.1432A>G (p.Ser478Gly)	Inborn genetic diseases [RCV003219400]	uncertain significance	15	76765626	76765626	Human	1	name
401774020	CV2702537	single nucleotide variant	NM_020843.4(SCAPER):c.1735G>T (p.Val579Phe)	Inborn genetic diseases [RCV003262402]	uncertain significance	15	76753939	76753939	Human	1	name
401721243	CV2709884	single nucleotide variant	NM_020843.4(SCAPER):c.2357C>T (p.Thr786Ile)	Inborn genetic diseases [RCV003267516]	uncertain significance	15	76702893	76702893	Human	1	name
401895054	CV2792745	single nucleotide variant	NM_020843.4(SCAPER):c.1621G>T (p.Ala541Ser)	Inborn genetic diseases [RCV003372143]	uncertain significance	15	76765065	76765065	Human	1	name
401913900	CV2799152	duplication	NM_020843.4(SCAPER):c.3267dup (p.Ser1090fs)	SCAPER-related disorder [RCV003400295]	likely pathogenic	15	76434121	76434122	Human		name , trait , alternate_id
405701486	CV3225993	single nucleotide variant	NM_020843.4(SCAPER):c.2364T>A (p.Tyr788Ter)	Intellectual developmental disorder and retinitis pigmentosa; IDDRP [RCV003989435]	likely pathogenic	15	76702886	76702886	Human	1	name
405690875	CV3227455	deletion	NM_020843.4(SCAPER):c.3969del (p.Ala1324fs)	Intellectual developmental disorder and retinitis pigmentosa; IDDRP [RCV003991799]	uncertain significance	15	76354027	76354027	Human	1	name
405742982	CV3317149	single nucleotide variant	NM_020843.4(SCAPER):c.1060G>T (p.Val354Leu)	Inborn genetic diseases [RCV004452670]	uncertain significance	15	76771930	76771930	Human	1	name
405742988	CV3317150	single nucleotide variant	NM_020843.4(SCAPER):c.1165C>T (p.Pro389Ser)	Inborn genetic diseases [RCV004452671]	uncertain significance	15	76771825	76771825	Human	1	name
405742995	CV3317151	single nucleotide variant	NM_020843.4(SCAPER):c.1600C>T (p.Pro534Ser)	Inborn genetic diseases [RCV004452672]	uncertain significance	15	76765350	76765350	Human	1	name
405743002	CV3317152	single nucleotide variant	NM_020843.4(SCAPER):c.1684C>T (p.Arg562Cys)	Inborn genetic diseases [RCV004452673]	uncertain significance	15	76765002	76765002	Human	1	name
405743009	CV3317153	single nucleotide variant	NM_020843.4(SCAPER):c.2458G>A (p.Val820Met)	Inborn genetic diseases [RCV004452674]	uncertain significance	15	76701808	76701808	Human	1	name
405743013	CV3317154	single nucleotide variant	NM_020843.4(SCAPER):c.2486G>A (p.Arg829His)	Inborn genetic diseases [RCV004452675]	uncertain significance	15	76701780	76701780	Human	1	name
405743018	CV3317155	single nucleotide variant	NM_020843.4(SCAPER):c.2558C>G (p.Thr853Arg)	Inborn genetic diseases [RCV004452676]	uncertain significance	15	76665740	76665740	Human	1	name
405743025	CV3317156	single nucleotide variant	NM_020843.4(SCAPER):c.2593C>T (p.Arg865Trp)	Inborn genetic diseases [RCV004452677]	uncertain significance	15	76665705	76665705	Human	1	name
405743031	CV3317157	single nucleotide variant	NM_020843.4(SCAPER):c.2944A>G (p.Ile982Val)	Inborn genetic diseases [RCV004452678]\|SCAPER-related disorder [RCV004755040]	uncertain significance	15	76504869	76504869	Human	2	name , trait , alternate_id
405743039	CV3317158	single nucleotide variant	NM_020843.4(SCAPER):c.2966A>G (p.Asn989Ser)	Inborn genetic diseases [RCV004452679]	uncertain significance	15	76471324	76471324	Human	1	name
596941227	CV3408095	single nucleotide variant	NM_020843.4(SCAPER):c.1456A>G (p.Met486Val)	Retinal dystrophy [RCV004815766]	uncertain significance	15	76765602	76765602	Human	2	name
596941377	CV3408164	single nucleotide variant	NM_020843.4(SCAPER):c.1108A>G (p.Ile370Val)	Retinal dystrophy [RCV004815835]	uncertain significance	15	76771882	76771882	Human	2	name
408380079	CV3408180	single nucleotide variant	NM_020843.4(SCAPER):c.1082G>A (p.Arg361Gln)	Retinal dystrophy [RCV004815851]\|SCAPER-related disorder [RCV004755049]	uncertain significance	15	76771908	76771908	Human	3	name , trait , alternate_id
596942125	CV3408401	single nucleotide variant	NM_020843.4(SCAPER):c.1212G>T (p.Arg404Ser)	Retinal dystrophy [RCV004816072]	uncertain significance	15	76771778	76771778	Human	2	name
596944520	CV3408926	single nucleotide variant	NM_020843.4(SCAPER):c.2419C>T (p.Leu807Phe)	Optic atrophy [RCV004817579]	uncertain significance	15	76701847	76701847	Human	2	name
596944628	CV3408967	single nucleotide variant	NM_020843.4(SCAPER):c.2544T>G (p.Ile848Met)	Optic atrophy [RCV004817620]	uncertain significance	15	76665754	76665754	Human	2	name
407514420	CV3483867	single nucleotide variant	NM_020843.4(SCAPER):c.1378A>G (p.Asn460Asp)	Inborn genetic diseases [RCV004674538]	uncertain significance	15	76766959	76766959	Human	1	name
407514422	CV3483869	single nucleotide variant	NM_020843.4(SCAPER):c.1411G>A (p.Asp471Asn)	Inborn genetic diseases [RCV004674539]	uncertain significance	15	76766926	76766926	Human	1	name
407514423	CV3483870	single nucleotide variant	NM_020843.4(SCAPER):c.2582A>T (p.Asp861Val)	Inborn genetic diseases [RCV004674540]	uncertain significance	15	76665716	76665716	Human	1	name
407461196	CV3483871	single nucleotide variant	NM_020843.4(SCAPER):c.1091A>G (p.Tyr364Cys)	Inborn genetic diseases [RCV004658649]	uncertain significance	15	76771899	76771899	Human	1	name
408383203	CV3504940	single nucleotide variant	NM_020843.4(SCAPER):c.1426A>G (p.Met476Val)	SCAPER-related disorder [RCV004730494]	uncertain significance	15	76765632	76765632	Human		name , trait , alternate_id
408383288	CV3504962	single nucleotide variant	NM_020843.4(SCAPER):c.1884T>A (p.Phe628Leu)	SCAPER-related disorder [RCV004730501]	uncertain significance	15	76733367	76733367	Human		name , trait , alternate_id
408384437	CV3505344	single nucleotide variant	NM_020843.4(SCAPER):c.2846C>T (p.Ala949Val)	SCAPER-related disorder [RCV004731811]	uncertain significance	15	76504967	76504967	Human		name , trait , alternate_id
408385083	CV3505614	single nucleotide variant	NM_020843.4(SCAPER):c.2464G>C (p.Glu822Gln)	SCAPER-related disorder [RCV004732374]	uncertain significance	15	76701802	76701802	Human		name , trait , alternate_id
408384963	CV3506628	single nucleotide variant	NM_020843.4(SCAPER):c.1218A>C (p.Glu406Asp)	SCAPER-related disorder [RCV004732268]	uncertain significance	15	76771772	76771772	Human		name , trait , alternate_id
408366061	CV3514695	single nucleotide variant	NM_020843.4(SCAPER):c.2996A>G (p.Asn999Ser)	SCAPER-related disorder [RCV004755550]	uncertain significance	15	76471294	76471294	Human		name , trait , alternate_id
408366141	CV3516040	single nucleotide variant	NM_020843.4(SCAPER):c.1760T>C (p.Leu587Pro)	SCAPER-related disorder [RCV004755629]	uncertain significance	15	76753914	76753914	Human		name , trait , alternate_id
408366181	CV3516525	single nucleotide variant	NM_020843.4(SCAPER):c.2593C>G (p.Arg865Gly)	SCAPER-related disorder [RCV004755665]	uncertain significance	15	76665705	76665705	Human		name , trait , alternate_id
408380439	CV3518039	single nucleotide variant	NM_020843.4(SCAPER):c.2384C>T (p.Ser795Phe)	SCAPER-related disorder [RCV004754225]	uncertain significance	15	76702866	76702866	Human		name , trait , alternate_id
597696003	CV3601653	single nucleotide variant	NM_020843.4(SCAPER):c.1774A>G (p.Arg592Gly)	Inborn genetic diseases [RCV004954827]	uncertain significance	15	76753900	76753900	Human	1	name
597696013	CV3601658	single nucleotide variant	NM_020843.4(SCAPER):c.1831G>A (p.Ala611Thr)	Inborn genetic diseases [RCV004954829]	uncertain significance	15	76753843	76753843	Human	1	name
597632623	CV3601659	single nucleotide variant	NM_020843.4(SCAPER):c.2929A>T (p.Asn977Tyr)	Inborn genetic diseases [RCV004968881]	uncertain significance	15	76504884	76504884	Human	1	name
597696023	CV3601661	single nucleotide variant	NM_020843.4(SCAPER):c.1342G>C (p.Glu448Gln)	Inborn genetic diseases [RCV004954831]	uncertain significance	15	76766995	76766995	Human	1	name
597632626	CV3601662	single nucleotide variant	NM_020843.4(SCAPER):c.2338G>T (p.Asp780Tyr)	Inborn genetic diseases [RCV004968882]	uncertain significance	15	76702912	76702912	Human	1	name
598196144	CV3900269	single nucleotide variant	NM_020843.4(SCAPER):c.1499G>A (p.Arg500His)	Inborn genetic diseases [RCV005267890]	uncertain significance	15	76765451	76765451	Human	1	name
598196148	CV3900270	single nucleotide variant	NM_020843.4(SCAPER):c.2702A>G (p.Tyr901Cys)	Inborn genetic diseases [RCV005267891]	uncertain significance	15	76621773	76621773	Human	1	name
598196176	CV3900277	single nucleotide variant	NM_020843.4(SCAPER):c.2279A>G (p.Gln760Arg)	Inborn genetic diseases [RCV005267898]	uncertain significance	15	76702971	76702971	Human	1	name
598196180	CV3900278	single nucleotide variant	NM_020843.4(SCAPER):c.2911G>C (p.Val971Leu)	Inborn genetic diseases [RCV005267899]	uncertain significance	15	76504902	76504902	Human	1	name
598196185	CV3900279	single nucleotide variant	NM_020843.4(SCAPER):c.2698C>G (p.Pro900Ala)	Inborn genetic diseases [RCV005267900]	uncertain significance	15	76621777	76621777	Human	1	name
598196195	CV3900282	single nucleotide variant	NM_020843.4(SCAPER):c.1604C>T (p.Ser535Phe)	Inborn genetic diseases [RCV005267903]	uncertain significance	15	76765346	76765346	Human	1	name
14396173	CV611800	single nucleotide variant	NM_020843.4(SCAPER):c.2377C>T (p.Gln793Ter)	Intellectual developmental disorder and retinitis pigmentosa; IDDRP [RCV000984530]\|not provided [RCV000760910]	pathogenic\|likely pathogenic	15	76702873	76702873	Human	1	name
15126284	CV714622	single nucleotide variant	NM_020843.4(SCAPER):c.2657A>T (p.Tyr886Phe)	Inborn genetic diseases [RCV002547285]\|SCAPER-related disorder [RCV003926218]\|not provided [RCV000963718]	benign\|likely benign	15	76621818	76621818	Human	2	name , trait , alternate_id
15173946	CV789146	deletion	NM_020843.4(SCAPER):c.3224del (p.Pro1075fs)	Intellectual developmental disorder and retinitis pigmentosa; IDDRP [RCV000984527]	likely pathogenic	15	76434165	76434165	Human	1	name
15173943	CV789148	single nucleotide variant	NM_020843.4(SCAPER):c.2179C>T (p.Arg727Ter)	Intellectual developmental disorder and retinitis pigmentosa; IDDRP [RCV000984524]	pathogenic\|likely pathogenic	15	76705971	76705971	Human	1	name
25314926	CV818311	single nucleotide variant	NM_020843.4(SCAPER):c.1081C>T (p.Arg361Ter)	Intellectual developmental disorder and retinitis pigmentosa; IDDRP [RCV001029902]	likely pathogenic	15	76771909	76771909	Human	1	name
150338448	CV1174182	single nucleotide variant	NM_020843.4(SCAPER):c.3065T>C (p.Ile1022Thr)	Intellectual developmental disorder and retinitis pigmentosa; IDDRP [RCV001542373]	uncertain significance	15	76471225	76471225	Human	1	name
150550792	CV1305165	single nucleotide variant	NM_020843.4(SCAPER):c.3316G>A (p.Val1106Met)	not provided [RCV001765945]	uncertain significance	15	76404675	76404675	Human		name
151235328	CV1318600	single nucleotide variant	NM_020843.4(SCAPER):c.3265C>A (p.Pro1089Thr)	Intellectual developmental disorder and retinitis pigmentosa; IDDRP [RCV001794928]\|SCAPER-related disorder [RCV003976187]\|not provided [RCV004715561]	benign	15	76434124	76434124	Human	1	name , trait , alternate_id
156286451	CV2232955	single nucleotide variant	NM_020843.4(SCAPER):c.3203G>A (p.Arg1068Gln)	Inborn genetic diseases [RCV002747443]	uncertain significance	15	76434186	76434186	Human	1	name
156157558	CV2235311	single nucleotide variant	NM_020843.4(SCAPER):c.3632A>G (p.Asn1211Ser)	Inborn genetic diseases [RCV002787279]	uncertain significance	15	76381451	76381451	Human	1	name
155993902	CV2253632	single nucleotide variant	NM_020843.4(SCAPER):c.3818G>A (p.Cys1273Tyr)	Inborn genetic diseases [RCV002793920]	uncertain significance	15	76376199	76376199	Human	1	name
156236054	CV2268082	single nucleotide variant	NM_020843.4(SCAPER):c.3650T>C (p.Ile1217Thr)	Inborn genetic diseases [RCV002853951]	uncertain significance	15	76381433	76381433	Human	1	name
156053574	CV2269515	single nucleotide variant	NM_020843.4(SCAPER):c.3077C>T (p.Thr1026Met)	Inborn genetic diseases [RCV002822467]	uncertain significance	15	76471213	76471213	Human	1	name
156287992	CV2370585	single nucleotide variant	NM_020843.4(SCAPER):c.4059G>C (p.Gln1353His)	Inborn genetic diseases [RCV002670606]	uncertain significance	15	76351277	76351277	Human	1	name
156345289	CV2382144	single nucleotide variant	NM_020843.4(SCAPER):c.3839A>G (p.Asn1280Ser)	Inborn genetic diseases [RCV002719635]	uncertain significance	15	76376178	76376178	Human	1	name
155904001	CV2385381	single nucleotide variant	NM_020843.4(SCAPER):c.4200A>C (p.Lys1400Asn)	Inborn genetic diseases [RCV002749159]	uncertain significance	15	76348636	76348636	Human	1	name
156248121	CV2396977	single nucleotide variant	NM_020843.4(SCAPER):c.3431A>G (p.His1144Arg)	Inborn genetic diseases [RCV002768687]\|Intellectual developmental disorder and retinitis pigmentosa; IDDRP [RCV004725628]\|Retinal dystrophy [RCV004818281]\|SCAPER-related disorder [RCV004754959]	likely benign\|uncertain significance	15	76404560	76404560	Human	4	name , trait , alternate_id
329368211	CV2442657	single nucleotide variant	NM_020843.4(SCAPER):c.3242C>T (p.Pro1081Leu)	Inborn genetic diseases [RCV003208612]	uncertain significance	15	76434147	76434147	Human	1	name
329402887	CV2451506	single nucleotide variant	NM_020843.4(SCAPER):c.3637A>G (p.Ile1213Val)	Inborn genetic diseases [RCV003199781]	likely benign	15	76381446	76381446	Human	1	name
329848372	CV2668019	single nucleotide variant	NM_020843.4(SCAPER):c.3293G>A (p.Arg1098Gln)	Bardet-Biedl syndrome 1 [RCV003229559]\|Retinal dystrophy [RCV004818306]	uncertain significance	15	76434096	76434096	Human	3	name
401757575	CV2707856	single nucleotide variant	NM_020843.4(SCAPER):c.3824G>C (p.Gly1275Ala)	Inborn genetic diseases [RCV003256092]	uncertain significance	15	76376193	76376193	Human	1	name
401748425	CV2711722	single nucleotide variant	NM_020843.4(SCAPER):c.3532A>G (p.Thr1178Ala)	Inborn genetic diseases [RCV003242517]	uncertain significance	15	76381551	76381551	Human	1	name
401866191	CV2762559	single nucleotide variant	NM_020843.4(SCAPER):c.3113G>A (p.Gly1038Glu)	Inborn genetic diseases [RCV003344870]	uncertain significance	15	76434276	76434276	Human	1	name
401896225	CV2773850	single nucleotide variant	NM_020843.4(SCAPER):c.4084C>G (p.Pro1362Ala)	Inborn genetic diseases [RCV003373855]	uncertain significance	15	76351252	76351252	Human	1	name
401863261	CV2776844	single nucleotide variant	NM_020843.4(SCAPER):c.4184T>C (p.Leu1395Ser)	Inborn genetic diseases [RCV003378543]	uncertain significance	15	76348652	76348652	Human	1	name
401865969	CV2786215	single nucleotide variant	NM_020843.4(SCAPER):c.4019G>C (p.Ser1340Thr)	Inborn genetic diseases [RCV003379524]	uncertain significance	15	76353977	76353977	Human	1	name
401916349	CV2814363	single nucleotide variant	NM_020843.4(SCAPER):c.3311G>A (p.Ser1104Asn)	not provided [RCV003400950]	uncertain significance	15	76434078	76434078	Human		name
405258432	CV3203728	single nucleotide variant	NM_020843.4(SCAPER):c.3200A>G (p.Asn1067Ser)	Retinal dystrophy [RCV004818441]\|SCAPER-related disorder [RCV003941912]	likely benign\|uncertain significance	15	76434189	76434189	Human	3	name , trait , alternate_id
405743045	CV3317159	single nucleotide variant	NM_020843.4(SCAPER):c.3022G>A (p.Val1008Ile)	Inborn genetic diseases [RCV004452680]	uncertain significance	15	76471268	76471268	Human	1	name
405743052	CV3317160	single nucleotide variant	NM_020843.4(SCAPER):c.3958T>C (p.Ser1320Pro)	Inborn genetic diseases [RCV004452681]	uncertain significance	15	76354038	76354038	Human	1	name
405743059	CV3317161	single nucleotide variant	NM_020843.4(SCAPER):c.3982A>C (p.Asn1328His)	Inborn genetic diseases [RCV004452682]	uncertain significance	15	76354014	76354014	Human	1	name
405743065	CV3317162	single nucleotide variant	NM_020843.4(SCAPER):c.4174C>A (p.Gln1392Lys)	Inborn genetic diseases [RCV004452683]	uncertain significance	15	76348662	76348662	Human	1	name
596941425	CV3408181	single nucleotide variant	NM_020843.4(SCAPER):c.3007G>A (p.Glu1003Lys)	Retinal dystrophy [RCV004815852]	uncertain significance	15	76471283	76471283	Human	2	name
408380083	CV3408939	single nucleotide variant	NM_020843.4(SCAPER):c.3443C>T (p.Thr1148Ile)	Inborn genetic diseases [RCV004953685]\|Optic atrophy [RCV004817592]\|SCAPER-related disorder [RCV004755051]	uncertain significance	15	76404548	76404548	Human	4	name , trait , alternate_id
408383407	CV3503911	single nucleotide variant	NM_020843.4(SCAPER):c.3476G>A (p.Ser1159Asn)	SCAPER-related disorder [RCV004730612]	uncertain significance	15	76381607	76381607	Human		name , trait , alternate_id
408365704	CV3509530	single nucleotide variant	NM_020843.4(SCAPER):c.3875G>A (p.Arg1292His)	Inborn genetic diseases [RCV004968610]\|SCAPER-related disorder [RCV004755224]	uncertain significance	15	76354121	76354121	Human	2	name , trait , alternate_id
408365728	CV3509727	single nucleotide variant	NM_020843.4(SCAPER):c.3844C>A (p.Pro1282Thr)	SCAPER-related disorder [RCV004755247]	likely benign	15	76376173	76376173	Human		name , trait , alternate_id
408365790	CV3510046	single nucleotide variant	NM_020843.4(SCAPER):c.3170G>A (p.Ser1057Asn)	SCAPER-related disorder [RCV004755264]	uncertain significance	15	76434219	76434219	Human		name , trait , alternate_id
408365904	CV3512284	single nucleotide variant	NM_020843.4(SCAPER):c.3327G>A (p.Met1109Ile)	SCAPER-related disorder [RCV004755408]	uncertain significance	15	76404664	76404664	Human		name , trait , alternate_id
408366056	CV3513309	single nucleotide variant	NM_020843.4(SCAPER):c.3178G>A (p.Val1060Ile)	SCAPER-related disorder [RCV004755475]	uncertain significance	15	76434211	76434211	Human		name , trait , alternate_id
408365990	CV3513652	single nucleotide variant	NM_020843.4(SCAPER):c.3986A>C (p.His1329Pro)	SCAPER-related disorder [RCV004755486]	uncertain significance	15	76354010	76354010	Human		name , trait , alternate_id
408366013	CV3513947	single nucleotide variant	NM_020843.4(SCAPER):c.3143G>T (p.Gly1048Val)	SCAPER-related disorder [RCV004755506]	uncertain significance	15	76434246	76434246	Human		name , trait , alternate_id
408366098	CV3514151	single nucleotide variant	NM_020843.4(SCAPER):c.3341A>C (p.Lys1114Thr)	SCAPER-related disorder [RCV004755520]	likely benign	15	76404650	76404650	Human		name , trait , alternate_id
408380420	CV3517216	single nucleotide variant	NM_020843.4(SCAPER):c.3926G>T (p.Ser1309Ile)	SCAPER-related disorder [RCV004754171]	uncertain significance	15	76354070	76354070	Human		name , trait , alternate_id
408380399	CV3517637	single nucleotide variant	NM_020843.4(SCAPER):c.3274G>A (p.Gly1092Ser)	SCAPER-related disorder [RCV004754192]	uncertain significance	15	76434115	76434115	Human		name , trait , alternate_id
408380460	CV3517647	single nucleotide variant	NM_020843.4(SCAPER):c.3874C>T (p.Arg1292Cys)	SCAPER-related disorder [RCV004754195]	uncertain significance	15	76354122	76354122	Human		name , trait , alternate_id
597632607	CV3601646	single nucleotide variant	NM_020843.4(SCAPER):c.3421G>A (p.Gly1141Arg)	Inborn genetic diseases [RCV004968875]	uncertain significance	15	76404570	76404570	Human	1	name
597632609	CV3601647	single nucleotide variant	NM_020843.4(SCAPER):c.3395T>C (p.Met1132Thr)	Inborn genetic diseases [RCV004968876]	uncertain significance	15	76404596	76404596	Human	1	name
597632612	CV3601649	single nucleotide variant	NM_020843.4(SCAPER):c.3088C>G (p.Pro1030Ala)	Inborn genetic diseases [RCV004968877]	uncertain significance	15	76434301	76434301	Human	1	name
597695991	CV3601650	single nucleotide variant	NM_020843.4(SCAPER):c.3814G>A (p.Val1272Ile)	Inborn genetic diseases [RCV004954825]	uncertain significance	15	76376203	76376203	Human	1	name
597695997	CV3601651	single nucleotide variant	NM_020843.4(SCAPER):c.3535G>A (p.Asp1179Asn)	Inborn genetic diseases [RCV004954826]	uncertain significance	15	76381548	76381548	Human	1	name
597632621	CV3601657	single nucleotide variant	NM_020843.4(SCAPER):c.3742C>T (p.Arg1248Trp)	Inborn genetic diseases [RCV004968880]	uncertain significance	15	76376275	76376275	Human	1	name
597696017	CV3601660	single nucleotide variant	NM_020843.4(SCAPER):c.3493C>T (p.Arg1165Cys)	Inborn genetic diseases [RCV004954830]	uncertain significance	15	76381590	76381590	Human	1	name
597632631	CV3601665	single nucleotide variant	NM_020843.4(SCAPER):c.3127A>G (p.Lys1043Glu)	Inborn genetic diseases [RCV004968884]	uncertain significance	15	76434262	76434262	Human	1	name
597632635	CV3601667	single nucleotide variant	NM_020843.4(SCAPER):c.3530C>A (p.Ala1177Glu)	Inborn genetic diseases [RCV004968885]	uncertain significance	15	76381553	76381553	Human	1	name
597632636	CV3601668	single nucleotide variant	NM_020843.4(SCAPER):c.3551T>C (p.Leu1184Pro)	Inborn genetic diseases [RCV004968886]	uncertain significance	15	76381532	76381532	Human	1	name
597860677	CV3880685	single nucleotide variant	NM_020843.4(SCAPER):c.3661C>T (p.Arg1221Cys)	Intellectual developmental disorder and retinitis pigmentosa; IDDRP [RCV005229524]	uncertain significance	15	76381422	76381422	Human	1	name
598196164	CV3900274	single nucleotide variant	NM_020843.4(SCAPER):c.3490A>T (p.Asn1164Tyr)	Inborn genetic diseases [RCV005267895]	uncertain significance	15	76381593	76381593	Human	1	name
598196169	CV3900275	single nucleotide variant	NM_020843.4(SCAPER):c.3917A>G (p.Gln1306Arg)	Inborn genetic diseases [RCV005267896]	uncertain significance	15	76354079	76354079	Human	1	name
13488533	CV418811	single nucleotide variant	NM_020843.4(SCAPER):c.3656G>A (p.Ser1219Asn)	Intellectual developmental disorder and retinitis pigmentosa; IDDRP [RCV000722056]\|Rod-cone dystrophy [RCV000523592]	pathogenic\|likely pathogenic	15	76381427	76381427	Human	6	name
15200433	CV703346	single nucleotide variant	NM_020843.4(SCAPER):c.3418G>A (p.Ala1140Thr)	SCAPER-related disorder [RCV003926061]\|not provided [RCV000957326]	benign	15	76404573	76404573	Human	1	name , trait , alternate_id
15169393	CV714620	single nucleotide variant	NM_020843.4(SCAPER):c.3496C>G (p.Gln1166Glu)	SCAPER-related disorder [RCV003960841]\|not provided [RCV000971803]	likely benign	15	76381587	76381587	Human	1	name , trait , alternate_id
15181326	CV714621	single nucleotide variant	NM_020843.4(SCAPER):c.3290A>G (p.Asn1097Ser)	SCAPER-related disorder [RCV003936188]\|not provided [RCV000974365]	benign	15	76434099	76434099	Human	1	name , trait , alternate_id
15180354	CV726262	single nucleotide variant	NM_020843.4(SCAPER):c.3616G>A (p.Glu1206Lys)	not provided [RCV000885507]	benign	15	76381467	76381467	Human		name
15185827	CV739793	single nucleotide variant	NM_020843.4(SCAPER):c.3811A>G (p.Ile1271Val)	Inborn genetic diseases [RCV003243370]\|SCAPER-related disorder [RCV004754625]\|not provided [RCV000908636]	likely benign\|uncertain significance	15	76376206	76376206	Human	2	name , trait , alternate_id
150544870	CV1315297	microsatellite	NM_020843.4(SCAPER):c.2961_2962del (p.Cys988fs)	Intellectual developmental disorder and retinitis pigmentosa; IDDRP [RCV001783712]	likely pathogenic	15	76471328	76471329	Human		name
401907846	CV2801202	duplication	NM_020843.4(SCAPER):c.2444_2445dup (p.His816fs)	SCAPER-related disorder [RCV003397443]	likely pathogenic	15	76701820	76701821	Human		name , trait , alternate_id
596944562	CV3408942	deletion	NM_020843.4(SCAPER):c.1378_1380del (p.Asn460del)	Optic atrophy [RCV004817595]	uncertain significance	15	76766957	76766959	Human	2	name
13478858	CV418812	microsatellite	NM_020843.3(SCAPER):c.1859_1861del (p.Glu620del)	Intellectual developmental disorder and retinitis pigmentosa; IDDRP [RCV000722055]\|Rod-cone dystrophy [RCV000520792]	pathogenic\|likely pathogenic	15	76753813	76753815	Human		name
15173948	CV789145	deletion	NM_020843.4(SCAPER):c.3707_3708del (p.Ser1236fs)	Intellectual developmental disorder and retinitis pigmentosa; IDDRP [RCV000984529]	likely pathogenic	15	76376309	76376310	Human	1	name
13466840	CV404617	microsatellite	NM_020843.3(SCAPER):c.2973_2976del (p.Ile991Metfs)	Intellectual developmental disorder and retinitis pigmentosa; IDDRP [RCV000722054]\|Rod-cone dystrophy [RCV000515799]	pathogenic	15	76471314	76471317	Human		name
14349687	CV538932	deletion	NM_020843.4(SCAPER):c.2806del (p.Thr935_Leu936insTer)	Obesity [RCV000735815]	pathogenic	15	76574190	76574190	Human	2	name
617153899	CV3703415	insertion	NM_020843.4(SCAPER):c.1461_1462insGTGGTATATCC (p.Met488fs)	Intellectual developmental disorder and retinitis pigmentosa; IDDRP [RCV005419810]	pathogenic	15	76765596	76765597	Human	1	name
155794468	CV1858592	insertion	NM_020843.4(SCAPER):c.3311+2919_3311+2920insTTTACACTTTTACTAAATTTTAATTTAAAATTTAGTAAATTAAAATAAAATTTTACTATTTTTAATTAGGCTTGTTTTACACTTGGGTTTTTT	Schizophrenia [RCV002463554]	uncertain significance	15	76431158	76431159	Human	2	name

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