Unc119 Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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250 records found for search term Unc119

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
11545720	CV256107	single nucleotide variant	NM_005148.4(UNC119):c.*1C>T	Cone-rod dystrophy [RCV000302810]\|Idiopathic CD4 lymphocytopenia [RCV000989774]\|not provided [RCV004709455]\|not specified [RCV000245518]	benign	17	28547296	28547296	Human	5	name
28898657	CV877087	single nucleotide variant	NM_005148.4(UNC119):c.*7G>A	Cone-rod dystrophy [RCV001123661]	likely benign	17	28547290	28547290	Human	3	name
11614587	CV327866	single nucleotide variant	NM_005148.4(UNC119):c.*83G>C	Cone-rod dystrophy [RCV000278119]	benign\|likely benign	17	28547214	28547214	Human	3	name
11620538	CV327876	single nucleotide variant	NM_005148.4(UNC119):c.*78C>T	Cone-rod dystrophy [RCV000337894]	uncertain significance	17	28547219	28547219	Human	3	name
11657438	CV327901	single nucleotide variant	NM_005148.4(UNC119):c.-38C>T	Cone-rod dystrophy [RCV000341198]	uncertain significance	17	28552595	28552595	Human	3	name
11661525	CV337718	single nucleotide variant	NM_005148.4(UNC119):c.-44A>G	Cone-rod dystrophy [RCV000377185]	uncertain significance	17	28552601	28552601	Human	3	name
11614992	CV343938	single nucleotide variant	NM_005148.4(UNC119):c.-34G>T	Cone-rod dystrophy [RCV000281461]	uncertain significance	17	28552591	28552591	Human	3	name
11632265	CV345374	single nucleotide variant	NM_005148.4(UNC119):c.*72C>T	Cone-rod dystrophy [RCV000401579]	benign\|likely benign	17	28547225	28547225	Human	3	name
11627730	CV345396	single nucleotide variant	NM_005148.4(UNC119):c.-66T>G	Cone-rod dystrophy [RCV000287425]	benign\|likely benign	17	28552623	28552623	Human	3	name
11619970	CV337702	single nucleotide variant	NM_005148.4(UNC119):c.*362C>G	Cone-rod dystrophy [RCV000331326]	benign\|likely benign	17	28546935	28546935	Human	3	name
11624387	CV337706	single nucleotide variant	NM_005148.4(UNC119):c.*287T>G	Cone-rod dystrophy [RCV000385591]	uncertain significance	17	28547010	28547010	Human	3	name
11651006	CV337708	single nucleotide variant	NM_005148.4(UNC119):c.*265G>A	Cone-rod dystrophy [RCV000296186]	uncertain significance	17	28547032	28547032	Human	3	name
11615944	CV343921	single nucleotide variant	NM_005148.4(UNC119):c.*385T>C	Cone-rod dystrophy [RCV000290311]	likely benign\|uncertain significance	17	28546912	28546912	Human	3	name
11621677	CV343930	single nucleotide variant	NM_005148.4(UNC119):c.*226C>T	Cone-rod dystrophy [RCV000351060]	benign\|likely benign	17	28547071	28547071	Human	3	name
11632068	CV345373	single nucleotide variant	NM_005148.4(UNC119):c.*140A>G	Cone-rod dystrophy [RCV000396488]	benign\|likely benign	17	28547157	28547157	Human	3	name
28895730	CV877084	single nucleotide variant	NM_005148.4(UNC119):c.*378G>A	Cone-rod dystrophy [RCV001122575]	uncertain significance	17	28546919	28546919	Human	3	name
28898649	CV877085	single nucleotide variant	NM_005148.4(UNC119):c.*181G>A	Cone-rod dystrophy [RCV001123659]	uncertain significance	17	28547116	28547116	Human	3	name
28898653	CV877086	single nucleotide variant	NM_005148.4(UNC119):c.*115G>A	Cone-rod dystrophy [RCV001123660]	uncertain significance	17	28547182	28547182	Human	3	name
126917800	CV1050109	single nucleotide variant	NM_005148.4(UNC119):c.610+5G>A	not provided [RCV001361371]	uncertain significance	17	28547672	28547672	Human		name
127277331	CV1104613	single nucleotide variant	NM_005148.4(UNC119):c.611-4G>T	not provided [RCV001444305]	likely benign	17	28547413	28547413	Human		name
127331819	CV1126033	single nucleotide variant	NM_005148.4(UNC119):c.437+8G>A	not provided [RCV001471799]	likely benign	17	28547991	28547991	Human		name
127291425	CV1126034	single nucleotide variant	NM_005148.4(UNC119):c.335-8C>T	not provided [RCV001451487]	likely benign	17	28548109	28548109	Human		name
151717195	CV1346338	single nucleotide variant	NM_005148.4(UNC119):c.437+1G>T	not provided [RCV001965401]	uncertain significance	17	28547998	28547998	Human		name
152138755	CV1565224	single nucleotide variant	NM_005148.4(UNC119):c.610+7G>A	not provided [RCV002083874]	likely benign	17	28547670	28547670	Human		name
152065350	CV1576293	single nucleotide variant	NM_005148.4(UNC119):c.220+7A>G	not provided [RCV002209251]	likely benign	17	28552331	28552331	Human		name
152124233	CV1634219	single nucleotide variant	NM_005148.4(UNC119):c.221-5C>T	not provided [RCV002217183]	likely benign	17	28548710	28548710	Human		name
156256259	CV1960835	single nucleotide variant	NM_005148.4(UNC119):c.610+6C>T	not provided [RCV002576698]	uncertain significance	17	28547671	28547671	Human		name
156416294	CV1976514	single nucleotide variant	NM_005148.4(UNC119):c.335-7A>G	not provided [RCV002589624]	likely benign	17	28548108	28548108	Human		name
156393354	CV2019124	single nucleotide variant	NM_005148.4(UNC119):c.437+8G>T	UNC119-related disorder [RCV003898489]\|not provided [RCV002725272]	likely benign	17	28547991	28547991	Human	1	name , trait , alternate_id
156283439	CV2186994	duplication	NM_005148.4(UNC119):c.334+1dup	not provided [RCV003044856]	uncertain significance	17	28548590	28548591	Human		name
405235673	CV3040954	single nucleotide variant	NM_005148.4(UNC119):c.610+9G>T	not provided [RCV003712314]	uncertain significance	17	28547668	28547668	Human		name
405185565	CV3160150	single nucleotide variant	NM_005148.4(UNC119):c.334+4A>G	not provided [RCV003859205]	uncertain significance	17	28548588	28548588	Human		name
11617988	CV327886	single nucleotide variant	NM_005148.4(UNC119):c.437+7C>T	Cone-rod dystrophy [RCV000309377]\|UNC119-related disorder [RCV003922363]\|not provided [RCV001402818]	benign\|likely benign	17	28547992	28547992	Human	4	name , trait , alternate_id
38495169	CV960194	single nucleotide variant	NM_005148.4(UNC119):c.437+1G>A	not provided [RCV001225545]	uncertain significance	17	28547998	28547998	Human		name
127321777	CV1146934	single nucleotide variant	NM_005148.4(UNC119):c.611-12C>T	not provided [RCV001504852]	likely benign	17	28547421	28547421	Human		name
127290364	CV1157923	deletion	NM_005148.4(UNC119):c.335-19del	not provided [RCV001509803]	benign	17	28548120	28548120	Human		name
156170093	CV1956220	single nucleotide variant	NM_005148.4(UNC119):c.611-18G>A	not provided [RCV002573785]	likely benign\|uncertain significance	17	28547427	28547427	Human		name
156396529	CV1980546	single nucleotide variant	NM_005148.4(UNC119):c.220+17G>A	not provided [RCV002605172]	likely benign	17	28552321	28552321	Human		name
156355101	CV2005107	single nucleotide variant	NM_005148.4(UNC119):c.611-18G>T	not provided [RCV002675864]	likely benign	17	28547427	28547427	Human		name
156094391	CV2012726	single nucleotide variant	NM_005148.4(UNC119):c.437+20G>T	not provided [RCV002706430]	likely benign	17	28547979	28547979	Human		name
156221322	CV2084035	single nucleotide variant	NM_005148.4(UNC119):c.334+17G>T	not provided [RCV002875880]	likely benign	17	28548575	28548575	Human		name
156040364	CV2146741	single nucleotide variant	NM_005148.4(UNC119):c.611-13G>T	not provided [RCV003019033]	likely benign	17	28547422	28547422	Human		name
405044163	CV2859662	single nucleotide variant	NM_005148.4(UNC119):c.335-11G>C	not provided [RCV003579285]	likely benign	17	28548112	28548112	Human		name
405029721	CV2926058	single nucleotide variant	NM_005148.4(UNC119):c.335-12G>A	not provided [RCV003578269]	likely benign	17	28548113	28548113	Human		name
402483414	CV2937595	single nucleotide variant	NM_005148.4(UNC119):c.220+12C>T	not provided [RCV003659853]	likely benign	17	28552326	28552326	Human		name
405134537	CV2955627	single nucleotide variant	NM_005148.4(UNC119):c.610+18T>C	not provided [RCV003668674]	likely benign	17	28547659	28547659	Human		name
405041845	CV3007579	single nucleotide variant	NM_005148.4(UNC119):c.610+17T>C	not provided [RCV003696384]	likely benign	17	28547660	28547660	Human		name
405235422	CV3166277	single nucleotide variant	NM_005148.4(UNC119):c.610+14G>T	not provided [RCV003853726]	uncertain significance	17	28547663	28547663	Human		name
11626319	CV345387	single nucleotide variant	NM_005148.4(UNC119):c.220+15G>C	Cone-rod dystrophy [RCV000261090]\|not provided [RCV001512311]	benign\|likely benign	17	28552323	28552323	Human	3	name
597872949	CV3747265	single nucleotide variant	NM_005148.4(UNC119):c.438-11T>C	not provided [RCV005068949]	likely benign	17	28547860	28547860	Human		name
405088304	CV2943404	single nucleotide variant	NM_005148.4(UNC119):c.6G>A (p.Lys2=)	not provided [RCV003665107]	likely benign	17	28552552	28552552	Human		name
127330294	CV1126037	single nucleotide variant	NM_005148.4(UNC119):c.18C>T (p.Gly6=)	not provided [RCV001470790]	likely benign	17	28552540	28552540	Human		name
126767983	CV1033123	single nucleotide variant	NM_005148.4(UNC119):c.7G>C (p.Val3Leu)	not provided [RCV001343073]	uncertain significance	17	28552551	28552551	Human		name
127315413	CV1126036	single nucleotide variant	NM_005148.4(UNC119):c.54G>A (p.Pro18=)	not provided [RCV001465205]	likely benign	17	28552504	28552504	Human		name
127333750	CV1146937	single nucleotide variant	NM_005148.4(UNC119):c.63G>C (p.Ser21=)	not provided [RCV001490362]	likely benign	17	28552495	28552495	Human		name
151811183	CV1350419	single nucleotide variant	NM_005148.4(UNC119):c.1A>G (p.Met1Val)	not provided [RCV002048869]	uncertain significance	17	28552557	28552557	Human		name
151874466	CV1470410	single nucleotide variant	NM_005148.4(UNC119):c.63G>A (p.Ser21=)	not provided [RCV001885681]	likely benign\|uncertain significance	17	28552495	28552495	Human		name
152129387	CV1549265	single nucleotide variant	NM_005148.4(UNC119):c.57G>A (p.Gly19=)	not provided [RCV002099278]	likely benign	17	28552501	28552501	Human		name
597973633	CV3820620	single nucleotide variant	NM_005148.4(UNC119):c.75G>A (p.Val25=)	not provided [RCV005168137]	likely benign	17	28552483	28552483	Human		name
28895981	CV877091	single nucleotide variant	NM_005148.4(UNC119):c.39G>A (p.Ala13=)	Cone-rod dystrophy [RCV001122666]\|not provided [RCV002070003]	likely benign\|uncertain significance	17	28552519	28552519	Human	3	name
127274331	CV1082817	single nucleotide variant	NM_005148.4(UNC119):c.264T>C (p.Phe88=)	not provided [RCV001406286]	likely benign	17	28548662	28548662	Human		name
127281742	CV1082818	single nucleotide variant	NM_005148.4(UNC119):c.228C>G (p.Leu76=)	not provided [RCV001410667]	likely benign	17	28548698	28548698	Human		name
127233399	CV1082819	single nucleotide variant	NM_005148.4(UNC119):c.117C>G (p.Ser39=)	not provided [RCV001396098]	likely benign	17	28552441	28552441	Human		name
151854156	CV1485374	single nucleotide variant	NM_005148.4(UNC119):c.22G>A (p.Gly8Ser)	not provided [RCV002033561]	uncertain significance	17	28552536	28552536	Human		name
152108640	CV1530001	single nucleotide variant	NM_005148.4(UNC119):c.195G>A (p.Val65=)	not provided [RCV002196482]	likely benign	17	28552363	28552363	Human		name
152126902	CV1544887	single nucleotide variant	NM_005148.4(UNC119):c.231C>T (p.Cys77=)	See cases [RCV002252761]\|not provided [RCV002154997]	likely benign\|uncertain significance	17	28548695	28548695	Human		name
152111675	CV1550370	single nucleotide variant	NM_005148.4(UNC119):c.234C>G (p.Ser78=)	not provided [RCV002153134]	likely benign	17	28548692	28548692	Human		name
152162382	CV1606307	single nucleotide variant	NM_005148.4(UNC119):c.159G>A (p.Pro53=)	not provided [RCV002181151]	likely benign	17	28552399	28552399	Human		name
156229443	CV2093729	single nucleotide variant	NM_005148.4(UNC119):c.105C>G (p.Ser35=)	not provided [RCV002894495]	likely benign	17	28552453	28552453	Human		name
405233257	CV2965472	single nucleotide variant	NM_005148.4(UNC119):c.186G>C (p.Pro62=)	not provided [RCV003682605]	likely benign	17	28552372	28552372	Human		name
405017159	CV3124881	single nucleotide variant	NM_005148.4(UNC119):c.195G>C (p.Val65=)	not provided [RCV003829506]	likely benign	17	28552363	28552363	Human		name
405291853	CV3207693	single nucleotide variant	NM_005148.4(UNC119):c.258C>T (p.Ile86=)	UNC119-related disorder [RCV003929387]	likely benign	17	28548668	28548668	Human		name , trait , alternate_id
11614052	CV337712	single nucleotide variant	NM_005148.4(UNC119):c.267C>G (p.Val89=)	Cone-rod dystrophy [RCV000274107]\|not provided [RCV000959376]\|not specified [RCV001699313]	benign\|likely benign	17	28548659	28548659	Human	3	name
11631771	CV345385	single nucleotide variant	NM_005148.4(UNC119):c.234C>T (p.Ser78=)	Cone-rod dystrophy [RCV000388299]\|not provided [RCV000914279]	benign\|likely benign	17	28548692	28548692	Human	3	name
8642175	CV101159	single nucleotide variant	NM_005148.4(UNC119):c.600C>T (p.Ser200=)	not provided [RCV000081273]	conflicting interpretations of pathogenicity\|uncertain significance	17	28547687	28547687	Human		name
127265235	CV1082816	single nucleotide variant	NM_005148.4(UNC119):c.450A>G (p.Thr150=)	not provided [RCV001403521]	likely benign	17	28547837	28547837	Human		name
127239560	CV1104614	single nucleotide variant	NM_005148.4(UNC119):c.582C>T (p.Tyr194=)	not provided [RCV001423144]	likely benign	17	28547705	28547705	Human		name
127337502	CV1126032	single nucleotide variant	NM_005148.4(UNC119):c.504C>T (p.Arg168=)	not provided [RCV001475709]	likely benign	17	28547783	28547783	Human		name
127309394	CV1126035	single nucleotide variant	NM_005148.4(UNC119):c.315C>T (p.Ile105=)	not provided [RCV001456289]	likely benign	17	28548611	28548611	Human		name
127316680	CV1146935	single nucleotide variant	NM_005148.4(UNC119):c.402G>A (p.Thr134=)	not provided [RCV001503083]	likely benign	17	28548034	28548034	Human		name
127321385	CV1146936	single nucleotide variant	NM_005148.4(UNC119):c.340T>C (p.Leu114=)	not provided [RCV001504741]\|not specified [RCV004681214]	likely benign	17	28548096	28548096	Human		name
151794846	CV1338422	single nucleotide variant	NM_005148.4(UNC119):c.28G>T (p.Ala10Ser)	not provided [RCV001898521]\|not specified [RCV004681297]	uncertain significance	17	28552530	28552530	Human		name
151737111	CV1361929	single nucleotide variant	NM_005148.4(UNC119):c.615C>T (p.Ser205=)	not provided [RCV001967752]	likely benign\|uncertain significance	17	28547405	28547405	Human		name
151843729	CV1499881	single nucleotide variant	NM_005148.4(UNC119):c.80C>T (p.Pro27Leu)	not provided [RCV001921847]	uncertain significance	17	28552478	28552478	Human		name
152162190	CV1534972	single nucleotide variant	NM_005148.4(UNC119):c.711C>T (p.Ser237=)	not provided [RCV002141109]	likely benign	17	28547309	28547309	Human		name
152066758	CV1578971	single nucleotide variant	NM_005148.4(UNC119):c.549C>T (p.Ile183=)	not provided [RCV002074555]	likely benign	17	28547738	28547738	Human		name
152079236	CV1620529	single nucleotide variant	NM_005148.4(UNC119):c.306C>T (p.Leu102=)	not provided [RCV002112524]	likely benign	17	28548620	28548620	Human		name
152034470	CV1621584	single nucleotide variant	NM_005148.4(UNC119):c.525C>T (p.Phe175=)	not provided [RCV002205353]	likely benign	17	28547762	28547762	Human		name
152069308	CV1640154	single nucleotide variant	NM_005148.4(UNC119):c.633G>A (p.Pro211=)	not provided [RCV002147857]	likely benign	17	28547387	28547387	Human		name
156373129	CV1953453	single nucleotide variant	NM_005148.4(UNC119):c.79C>T (p.Pro27Ser)	not provided [RCV002582584]	uncertain significance	17	28552479	28552479	Human		name
156356036	CV2001468	single nucleotide variant	NM_005148.4(UNC119):c.675G>T (p.Arg225=)	not provided [RCV002675929]	likely benign	17	28547345	28547345	Human		name
156393732	CV2002527	single nucleotide variant	NM_005148.4(UNC119):c.486C>T (p.Ile162=)	not provided [RCV002681023]	likely benign	17	28547801	28547801	Human		name
155954719	CV2014222	single nucleotide variant	NM_005148.4(UNC119):c.588C>T (p.Phe196=)	not provided [RCV002686204]	likely benign	17	28547699	28547699	Human		name
156244759	CV2053272	single nucleotide variant	NM_005148.4(UNC119):c.363G>A (p.Leu121=)	not provided [RCV002791480]	likely benign	17	28548073	28548073	Human		name
155934041	CV2064277	single nucleotide variant	NM_005148.4(UNC119):c.516C>T (p.Leu172=)	not provided [RCV002861309]	likely benign	17	28547771	28547771	Human		name
155942484	CV2068341	single nucleotide variant	NM_005148.4(UNC119):c.418C>T (p.Leu140=)	not provided [RCV002839506]	likely benign	17	28548018	28548018	Human		name
156026806	CV2100444	single nucleotide variant	NM_005148.4(UNC119):c.414C>T (p.Leu138=)	not provided [RCV002885217]	likely benign	17	28548022	28548022	Human		name
155926259	CV2145103	single nucleotide variant	NM_005148.4(UNC119):c.591C>A (p.Pro197=)	not provided [RCV003013420]	likely benign	17	28547696	28547696	Human		name
156227105	CV2164760	single nucleotide variant	NM_005148.4(UNC119):c.576C>T (p.His192=)	not provided [RCV003042945]	likely benign	17	28547711	28547711	Human		name
156345278	CV2176314	single nucleotide variant	NM_005148.4(UNC119):c.624C>T (p.Ile208=)	not provided [RCV003030524]	likely benign	17	28547396	28547396	Human		name
405157307	CV2960983	single nucleotide variant	NM_005148.4(UNC119):c.372T>C (p.Asn124=)	not provided [RCV003670478]	likely benign	17	28548064	28548064	Human		name
405141114	CV3125870	single nucleotide variant	NM_005148.4(UNC119):c.49G>A (p.Ala17Thr)	not provided [RCV003816785]	uncertain significance	17	28552509	28552509	Human		name
405244172	CV3161212	single nucleotide variant	NM_005148.4(UNC119):c.53C>T (p.Pro18Leu)	not provided [RCV003868121]	uncertain significance	17	28552505	28552505	Human		name
11620617	CV327883	single nucleotide variant	NM_005148.4(UNC119):c.663C>T (p.Phe221=)	Cone-rod dystrophy [RCV000339147]\|not provided [RCV000890164]	benign\|likely benign	17	28547357	28547357	Human	3	name
11623105	CV327889	single nucleotide variant	NM_005148.4(UNC119):c.321G>A (p.Lys107=)	Cone-rod dystrophy [RCV000368696]\|not provided [RCV003765873]	likely benign\|uncertain significance	17	28548605	28548605	Human	3	name
11631358	CV345392	single nucleotide variant	NM_005148.4(UNC119):c.47C>T (p.Ser16Phe)	Cone-rod dystrophy [RCV000375940]\|not provided [RCV001303184]	uncertain significance	17	28552511	28552511	Human	3	name
597832427	CV3830981	single nucleotide variant	NM_005148.4(UNC119):c.76G>A (p.Ala26Thr)	not provided [RCV005170378]	uncertain significance	17	28552482	28552482	Human		name
598274499	CV3925524	single nucleotide variant	NM_005148.4(UNC119):c.77C>G (p.Ala26Gly)	not specified [RCV005303961]	uncertain significance	17	28552481	28552481	Human		name
15162487	CV755722	single nucleotide variant	NM_005148.4(UNC119):c.714G>A (p.Gly238=)	not provided [RCV000925900]	likely benign	17	28547306	28547306	Human		name
15161336	CV755723	single nucleotide variant	NM_005148.4(UNC119):c.645G>A (p.Gln215=)	not provided [RCV000925664]	likely benign	17	28547375	28547375	Human		name
15099283	CV755724	single nucleotide variant	NM_005148.4(UNC119):c.573G>A (p.Glu191=)	not provided [RCV000914428]	likely benign	17	28547714	28547714	Human		name
26919598	CV844834	deletion	NM_005148.4(UNC119):c.242del (p.Glu81fs)	not provided [RCV001045945]	uncertain significance	17	28548684	28548684	Human		name
26912805	CV844836	single nucleotide variant	NM_005148.4(UNC119):c.95C>A (p.Pro32His)	not provided [RCV001034757]	uncertain significance	17	28552463	28552463	Human		name
8573642	CV94314	single nucleotide variant	NM_005148.4(UNC119):c.65G>T (p.Gly22Val)	Cone-rod dystrophy [RCV000316267]\|Idiopathic CD4 lymphocytopenia [RCV000074396]\|not provided [RCV001512299]\|not specified [RCV000250269]	pathogenic\|benign\|likely benign\|conflicting interpretations of pathogenicity	17	28552493	28552493	Human	5	name
126766770	CV997392	single nucleotide variant	NM_005148.4(UNC119):c.38C>T (p.Ala13Val)	not provided [RCV001302024]	uncertain significance	17	28552520	28552520	Human		name
126922081	CV1050113	single nucleotide variant	NM_005148.4(UNC119):c.243G>T (p.Glu81Asp)	not provided [RCV001364247]	uncertain significance	17	28548683	28548683	Human		name
151872861	CV1351800	single nucleotide variant	NM_005148.4(UNC119):c.199G>T (p.Gly67Trp)	not provided [RCV001998575]	uncertain significance	17	28552359	28552359	Human		name
151812947	CV1355560	single nucleotide variant	NM_005148.4(UNC119):c.281G>C (p.Arg94Pro)	not provided [RCV002012623]	uncertain significance	17	28548645	28548645	Human		name
151876277	CV1360192	single nucleotide variant	NM_005148.4(UNC119):c.167G>A (p.Arg56Lys)	not provided [RCV001907103]	uncertain significance	17	28552391	28552391	Human		name
151890284	CV1394796	single nucleotide variant	NM_005148.4(UNC119):c.230G>A (p.Cys77Tyr)	not provided [RCV001888374]	uncertain significance	17	28548696	28548696	Human		name
151711278	CV1395002	single nucleotide variant	NM_005148.4(UNC119):c.179T>C (p.Ile60Thr)	not provided [RCV001964348]	uncertain significance	17	28552379	28552379	Human		name
151874113	CV1470345	single nucleotide variant	NM_005148.4(UNC119):c.226C>T (p.Leu76Phe)	not provided [RCV001885644]	uncertain significance	17	28548700	28548700	Human		name
151760112	CV1497112	single nucleotide variant	NM_005148.4(UNC119):c.281G>T (p.Arg94Leu)	not provided [RCV001987161]	uncertain significance	17	28548645	28548645	Human		name
151870529	CV1515632	single nucleotide variant	NM_005148.4(UNC119):c.126G>C (p.Glu42Asp)	UNC119-related disorder [RCV003978453]\|not provided [RCV001981239]	uncertain significance	17	28552432	28552432	Human	1	name , trait , alternate_id
155718527	CV1775524	single nucleotide variant	NM_005148.4(UNC119):c.293C>T (p.Ser98Leu)	not provided [RCV002301183]	uncertain significance	17	28548633	28548633	Human		name
156127398	CV2031350	single nucleotide variant	NM_005148.4(UNC119):c.104C>A (p.Ser35Tyr)	not provided [RCV002740434]	uncertain significance	17	28552454	28552454	Human		name
8558992	CV20921	single nucleotide variant	NM_005148.4(UNC119):c.169A>T (p.Lys57Ter)	Cone-rod dystrophy 24 [RCV003223390]\|not provided [RCV001241145]	pathogenic\|uncertain significance	17	28552389	28552389	Human	1	name
156177999	CV2144901	single nucleotide variant	NM_005148.4(UNC119):c.254A>C (p.Lys85Thr)	not provided [RCV003005616]	uncertain significance	17	28548672	28548672	Human		name
156308360	CV2163797	single nucleotide variant	NM_005148.4(UNC119):c.106G>A (p.Glu36Lys)	not provided [RCV003045893]	uncertain significance	17	28552452	28552452	Human		name
156196636	CV2171586	single nucleotide variant	NM_005148.4(UNC119):c.232T>C (p.Ser78Pro)	not provided [RCV003024310]	uncertain significance	17	28548694	28548694	Human		name
156046419	CV2304269	single nucleotide variant	NM_005148.4(UNC119):c.208C>T (p.Arg70Trp)	not provided [RCV003777934]\|not specified [RCV004164393]	uncertain significance	17	28552350	28552350	Human		name
11656485	CV343935	single nucleotide variant	NM_005148.4(UNC119):c.262T>C (p.Phe88Leu)	Cone-rod dystrophy [RCV000333782]	uncertain significance	17	28548664	28548664	Human	3	name
597930736	CV3827003	single nucleotide variant	NM_005148.4(UNC119):c.286A>G (p.Met96Val)	not provided [RCV005157016]	uncertain significance	17	28548640	28548640	Human		name
597971318	CV3832983	single nucleotide variant	NM_005148.4(UNC119):c.187G>T (p.Glu63Ter)	not provided [RCV005166880]	uncertain significance	17	28552371	28552371	Human		name
598274497	CV3925523	single nucleotide variant	NM_005148.4(UNC119):c.233C>A (p.Ser78Tyr)	not specified [RCV005303960]	uncertain significance	17	28548693	28548693	Human		name
26921818	CV844835	single nucleotide variant	NM_005148.4(UNC119):c.115T>G (p.Ser39Ala)	not provided [RCV001050804]	uncertain significance	17	28552443	28552443	Human		name
28908832	CV877090	single nucleotide variant	NM_005148.4(UNC119):c.281G>A (p.Arg94Gln)	Cone-rod dystrophy [RCV001128387]\|UNC119-related disorder [RCV004746249]\|not provided [RCV001309225]\|not specified [RCV004032277]	benign\|likely benign\|uncertain significance	17	28548645	28548645	Human	4	name , trait , alternate_id
38483627	CV949750	single nucleotide variant	NM_005148.4(UNC119):c.164A>G (p.Gln55Arg)	not provided [RCV001236000]	uncertain significance	17	28552394	28552394	Human		name
38492635	CV958014	single nucleotide variant	NM_005148.4(UNC119):c.280C>T (p.Arg94Trp)	not provided [RCV001240196]\|not specified [RCV004034641]	uncertain significance	17	28548646	28548646	Human		name
38491640	CV958015	single nucleotide variant	NM_005148.4(UNC119):c.259G>A (p.Asp87Asn)	not provided [RCV001239577]	uncertain significance	17	28548667	28548667	Human		name
38499620	CV958016	single nucleotide variant	NM_005148.4(UNC119):c.217G>A (p.Gly73Ser)	not provided [RCV001244868]\|not specified [RCV004034804]	uncertain significance	17	28552341	28552341	Human		name
126775058	CV1033118	single nucleotide variant	NM_005148.4(UNC119):c.712G>A (p.Gly238Arg)	not provided [RCV001347943]	uncertain significance	17	28547308	28547308	Human		name
126769169	CV1033119	single nucleotide variant	NM_005148.4(UNC119):c.586T>A (p.Phe196Ile)	not provided [RCV001343778]	uncertain significance	17	28547701	28547701	Human		name
126766970	CV1033120	single nucleotide variant	NM_005148.4(UNC119):c.486C>G (p.Ile162Met)	not provided [RCV001342633]	uncertain significance	17	28547801	28547801	Human		name
126758581	CV1033121	single nucleotide variant	NM_005148.4(UNC119):c.415C>A (p.Arg139Ser)	not provided [RCV001339888]	uncertain significance	17	28548021	28548021	Human		name
126772493	CV1033122	single nucleotide variant	NM_005148.4(UNC119):c.401C>T (p.Thr134Met)	not provided [RCV001345646]\|not specified [RCV004036464]	uncertain significance	17	28548035	28548035	Human		name
126908580	CV1050110	single nucleotide variant	NM_005148.4(UNC119):c.506A>G (p.Asn169Ser)	not provided [RCV001368016]\|not specified [RCV004037030]	uncertain significance	17	28547781	28547781	Human		name
126923913	CV1050111	single nucleotide variant	NM_005148.4(UNC119):c.358G>T (p.Asp120Tyr)	not provided [RCV001366401]	uncertain significance	17	28548078	28548078	Human		name
126917794	CV1050112	single nucleotide variant	NM_005148.4(UNC119):c.352C>T (p.Arg118Trp)	not provided [RCV001361368]	uncertain significance	17	28548084	28548084	Human		name
151881350	CV1339586	single nucleotide variant	NM_005148.4(UNC119):c.592C>T (p.Pro198Ser)	not provided [RCV001999623]	uncertain significance	17	28547695	28547695	Human		name
151857128	CV1347975	single nucleotide variant	NM_005148.4(UNC119):c.479G>A (p.Arg160His)	not provided [RCV001979664]	uncertain significance	17	28547808	28547808	Human		name
151889875	CV1350364	single nucleotide variant	NM_005148.4(UNC119):c.459C>A (p.Asp153Glu)	not provided [RCV002038689]	uncertain significance	17	28547828	28547828	Human		name
151766294	CV1359097	single nucleotide variant	NM_005148.4(UNC119):c.415C>T (p.Arg139Cys)	not provided [RCV001970731]	uncertain significance	17	28548021	28548021	Human		name
151804446	CV1362874	single nucleotide variant	NM_005148.4(UNC119):c.601G>A (p.Glu201Lys)	not provided [RCV002028394]	uncertain significance	17	28547686	28547686	Human		name
151859726	CV1373943	single nucleotide variant	NM_005148.4(UNC119):c.571G>C (p.Glu191Gln)	not provided [RCV001938385]	uncertain significance	17	28547716	28547716	Human		name
151864675	CV1374711	single nucleotide variant	NM_005148.4(UNC119):c.469A>C (p.Asn157His)	not provided [RCV001884389]	uncertain significance	17	28547818	28547818	Human		name
151846106	CV1390188	single nucleotide variant	NM_005148.4(UNC119):c.592C>G (p.Pro198Ala)	not provided [RCV001881958]	uncertain significance	17	28547695	28547695	Human		name
151767588	CV1393993	single nucleotide variant	NM_005148.4(UNC119):c.452T>C (p.Val151Ala)	not provided [RCV002008534]	uncertain significance	17	28547835	28547835	Human		name
151834907	CV1394312	single nucleotide variant	NM_005148.4(UNC119):c.409T>C (p.Phe137Leu)	not provided [RCV002051100]	uncertain significance	17	28548027	28548027	Human		name
151822404	CV1418823	single nucleotide variant	NM_005148.4(UNC119):c.437C>T (p.Thr146Met)	not provided [RCV001954889]	uncertain significance	17	28547999	28547999	Human		name
151800681	CV1439041	single nucleotide variant	NM_005148.4(UNC119):c.487G>T (p.Glu163Ter)	not provided [RCV001990922]	uncertain significance	17	28547800	28547800	Human		name
151852419	CV1458988	single nucleotide variant	NM_005148.4(UNC119):c.370A>G (p.Asn124Asp)	not provided [RCV002016768]	uncertain significance	17	28548066	28548066	Human		name
151796256	CV1471234	single nucleotide variant	NM_005148.4(UNC119):c.711C>G (p.Ser237Arg)	not provided [RCV001952506]	uncertain significance	17	28547309	28547309	Human		name
151835718	CV1472710	single nucleotide variant	NM_005148.4(UNC119):c.481A>G (p.Met161Val)	not provided [RCV002051181]	uncertain significance	17	28547806	28547806	Human		name
151861806	CV1474091	single nucleotide variant	NM_005148.4(UNC119):c.503G>T (p.Arg168Leu)	not provided [RCV001884013]	uncertain significance	17	28547784	28547784	Human		name
151855103	CV1478606	single nucleotide variant	NM_005148.4(UNC119):c.632C>T (p.Pro211Leu)	not provided [RCV002017077]\|not specified [RCV004046740]	uncertain significance	17	28547388	28547388	Human		name
151745338	CV1485048	single nucleotide variant	NM_005148.4(UNC119):c.439G>C (p.Val147Leu)	not provided [RCV002006247]	uncertain significance	17	28547848	28547848	Human		name
151721504	CV1489498	single nucleotide variant	NM_005148.4(UNC119):c.571G>A (p.Glu191Lys)	not provided [RCV001891174]	uncertain significance	17	28547716	28547716	Human		name
151811161	CV1506671	single nucleotide variant	NM_005148.4(UNC119):c.680T>G (p.Val227Gly)	not provided [RCV001918624]	uncertain significance	17	28547340	28547340	Human		name
151843927	CV1511019	single nucleotide variant	NM_005148.4(UNC119):c.386T>C (p.Val129Ala)	not provided [RCV001957093]	uncertain significance	17	28548050	28548050	Human		name
152043787	CV1669001	single nucleotide variant	NM_005148.4(UNC119):c.601G>T (p.Glu201Ter)	Cone-rod dystrophy 24 [RCV003223752]\|Macular dystrophy [RCV002223344]	pathogenic\|likely pathogenic	17	28547686	28547686	Human	3	name
155677265	CV1771853	single nucleotide variant	NM_005148.4(UNC119):c.479G>T (p.Arg160Leu)	not provided [RCV002297870]	uncertain significance	17	28547808	28547808	Human		name
156409567	CV1961849	single nucleotide variant	NM_005148.4(UNC119):c.439G>A (p.Val147Met)	not provided [RCV002586860]	uncertain significance	17	28547848	28547848	Human		name
156403037	CV1988893	single nucleotide variant	NM_005148.4(UNC119):c.564C>G (p.Asn188Lys)	not provided [RCV002605822]	uncertain significance	17	28547723	28547723	Human		name
156237637	CV1999660	single nucleotide variant	NM_005148.4(UNC119):c.694G>A (p.Ala232Thr)	not provided [RCV002667815]	uncertain significance	17	28547326	28547326	Human		name
156287986	CV2001847	single nucleotide variant	NM_005148.4(UNC119):c.718C>T (p.Pro240Ser)	not provided [RCV002647082]	uncertain significance	17	28547302	28547302	Human		name
156089684	CV2017523	single nucleotide variant	NM_005148.4(UNC119):c.616G>A (p.Glu206Lys)	not provided [RCV002694898]\|not specified [RCV004681531]	uncertain significance	17	28547404	28547404	Human		name
155936492	CV2058045	single nucleotide variant	NM_005148.4(UNC119):c.325C>T (p.Pro109Ser)	not provided [RCV002815408]	uncertain significance	17	28548601	28548601	Human		name
156152918	CV2070507	single nucleotide variant	NM_005148.4(UNC119):c.551C>A (p.Pro184His)	not provided [RCV002850930]	uncertain significance	17	28547736	28547736	Human		name
156300277	CV2075867	duplication	NM_005148.4(UNC119):c.89_92dup (p.Pro32fs)	not provided [RCV002857135]	uncertain significance	17	28552465	28552466	Human		name
156257755	CV2142286	single nucleotide variant	NM_005148.4(UNC119):c.631C>A (p.Pro211Thr)	not provided [RCV002988361]	uncertain significance	17	28547389	28547389	Human		name
156185650	CV2239479	single nucleotide variant	NM_005148.4(UNC119):c.589C>G (p.Pro197Ala)	not specified [RCV004114193]	uncertain significance	17	28547698	28547698	Human		name
156051384	CV2323342	single nucleotide variant	NM_005148.4(UNC119):c.593C>A (p.Pro198His)	not specified [RCV004171750]	uncertain significance	17	28547694	28547694	Human		name
11643282	CV271009	single nucleotide variant	NM_005148.4(UNC119):c.379C>T (p.Arg127Cys)	not provided [RCV000391018]	uncertain significance	17	28548057	28548057	Human		name
401892239	CV2777353	single nucleotide variant	NM_005148.4(UNC119):c.673C>T (p.Arg225Trp)	not provided [RCV003443210]\|not specified [RCV004354364]	uncertain significance	17	28547347	28547347	Human		name
405096269	CV2944122	single nucleotide variant	NM_005148.4(UNC119):c.559A>G (p.Lys187Glu)	not provided [RCV003665672]	uncertain significance	17	28547728	28547728	Human		name
405155459	CV2950825	single nucleotide variant	NM_005148.4(UNC119):c.713G>A (p.Gly238Glu)	not provided [RCV003670341]	uncertain significance	17	28547307	28547307	Human		name
402495368	CV3005697	single nucleotide variant	NM_005148.4(UNC119):c.384T>A (p.Phe128Leu)	not provided [RCV003687959]	uncertain significance	17	28548052	28548052	Human		name
405217139	CV3124804	single nucleotide variant	NM_005148.4(UNC119):c.695C>T (p.Ala232Val)	not provided [RCV003824167]	uncertain significance	17	28547325	28547325	Human		name
402521080	CV3126852	single nucleotide variant	NM_005148.4(UNC119):c.338G>A (p.Arg113Gln)	not provided [RCV003824770]	uncertain significance	17	28548098	28548098	Human		name
404979942	CV3127895	single nucleotide variant	NM_005148.4(UNC119):c.584A>T (p.Asp195Val)	not provided [RCV003825927]	uncertain significance	17	28547703	28547703	Human		name
405178068	CV3151057	single nucleotide variant	NM_005148.4(UNC119):c.655T>G (p.Phe219Val)	not provided [RCV003842141]\|not specified [RCV004366965]	uncertain significance	17	28547365	28547365	Human		name
405691922	CV3227611	single nucleotide variant	NM_005148.4(UNC119):c.721T>C (p.Ter241Arg)	Cone-rod dystrophy 24 [RCV003991957]	uncertain significance	17	28547299	28547299	Human	1	name
405805700	CV3348322	single nucleotide variant	NM_005148.4(UNC119):c.483G>T (p.Met161Ile)	not specified [RCV004479843]	uncertain significance	17	28547804	28547804	Human		name
405805704	CV3348324	single nucleotide variant	NM_005148.4(UNC119):c.596T>A (p.Leu199His)	not specified [RCV004479845]	uncertain significance	17	28547691	28547691	Human		name
11617391	CV337710	single nucleotide variant	NM_005148.4(UNC119):c.526G>A (p.Asp176Asn)	Cone-rod dystrophy [RCV000304132]\|not provided [RCV005090483]\|not specified [RCV004021695]	uncertain significance	17	28547761	28547761	Human	3	name
407488286	CV3415098	single nucleotide variant	NM_005148.4(UNC119):c.395A>C (p.Gln132Pro)	not specified [RCV004597434]	uncertain significance	17	28548041	28548041	Human		name
11622725	CV343934	single nucleotide variant	NM_005148.4(UNC119):c.509A>G (p.Gln170Arg)	Cone-rod dystrophy [RCV000363510]\|not provided [RCV001368215]\|not specified [RCV004021696]	likely benign\|uncertain significance	17	28547778	28547778	Human	3	name
11632462	CV345375	single nucleotide variant	NM_005148.4(UNC119):c.626G>A (p.Arg209His)	Cone-rod dystrophy [RCV000407872]\|UNC119-related disorder [RCV003897735]\|not provided [RCV001244220]	uncertain significance	17	28547394	28547394	Human	4	name , trait , alternate_id
11626942	CV345378	single nucleotide variant	NM_005148.4(UNC119):c.502C>T (p.Arg168Cys)	Cone-rod dystrophy [RCV000273021]\|Idiopathic CD4 lymphocytopenia [RCV000768362]\|UNC119-related disorder [RCV003401338]\|not provided [RCV001070880]	benign\|likely benign\|uncertain significance	17	28547785	28547785	Human	5	name , trait , alternate_id
597790295	CV3632724	single nucleotide variant	NM_005148.4(UNC119):c.572A>C (p.Glu191Ala)	not specified [RCV004876313]	uncertain significance	17	28547715	28547715	Human		name
597920535	CV3738091	single nucleotide variant	NM_005148.4(UNC119):c.521G>C (p.Ser174Thr)	not provided [RCV005074690]	uncertain significance	17	28547766	28547766	Human		name
597914449	CV3851108	single nucleotide variant	NM_005148.4(UNC119):c.716C>T (p.Thr239Ile)	not provided [RCV005204076]	uncertain significance	17	28547304	28547304	Human		name
597898684	CV3854578	single nucleotide variant	NM_005148.4(UNC119):c.574C>G (p.His192Asp)	not provided [RCV005201685]	uncertain significance	17	28547713	28547713	Human		name
598274500	CV3925525	single nucleotide variant	NM_005148.4(UNC119):c.659A>C (p.Tyr220Ser)	not specified [RCV005303962]	uncertain significance	17	28547361	28547361	Human		name
14699064	CV624621	single nucleotide variant	NM_005148.4(UNC119):c.388C>T (p.Arg130Cys)	UNC119-related disorder [RCV003413583]\|not provided [RCV000788263]	uncertain significance	17	28548048	28548048	Human	1	name , trait , alternate_id
26884672	CV844830	single nucleotide variant	NM_005148.4(UNC119):c.419T>G (p.Leu140Arg)	Cone-rod dystrophy [RCV001128385]\|not provided [RCV001052351]\|not specified [RCV004031638]	uncertain significance	17	28548017	28548017	Human	3	name
26887200	CV844831	single nucleotide variant	NM_005148.4(UNC119):c.416G>A (p.Arg139His)	not provided [RCV001055976]	uncertain significance	17	28548020	28548020	Human		name
26901932	CV844832	single nucleotide variant	NM_005148.4(UNC119):c.371A>G (p.Asn124Ser)	not provided [RCV001068948]\|not specified [RCV004030692]	uncertain significance	17	28548065	28548065	Human		name
26916855	CV844833	single nucleotide variant	NM_005148.4(UNC119):c.356G>A (p.Arg119Gln)	Cone-rod dystrophy [RCV001128386]\|not provided [RCV001041000]	benign\|likely benign\|uncertain significance	17	28548080	28548080	Human	3	name
28905078	CV877088	single nucleotide variant	NM_005148.4(UNC119):c.689A>G (p.Asn230Ser)	Cone-rod dystrophy [RCV001126341]	uncertain significance	17	28547331	28547331	Human	3	name
28905081	CV877089	single nucleotide variant	NM_005148.4(UNC119):c.586T>C (p.Phe196Leu)	Cone-rod dystrophy [RCV001126342]\|not provided [RCV001315674]	likely benign\|uncertain significance	17	28547701	28547701	Human	3	name
38487144	CV937755	single nucleotide variant	NM_005148.4(UNC119):c.355C>T (p.Arg119Trp)	not provided [RCV001209191]\|not specified [RCV004033761]	uncertain significance	17	28548081	28548081	Human		name
38486129	CV937756	single nucleotide variant	NM_005148.4(UNC119):c.337C>T (p.Arg113Trp)	not provided [RCV001208759]\|not specified [RCV005298724]	uncertain significance	17	28548099	28548099	Human		name
38477288	CV937757	microsatellite	NM_005148.4(UNC119):c.10AAG[1] (p.Lys5del)	not provided [RCV001205022]	uncertain significance	17	28552543	28552545	Human		name
38461240	CV949748	single nucleotide variant	NM_005148.4(UNC119):c.478C>T (p.Arg160Cys)	not provided [RCV001229499]	uncertain significance	17	28547809	28547809	Human		name
38489545	CV949749	single nucleotide variant	NM_005148.4(UNC119):c.362T>C (p.Leu121Pro)	not provided [RCV001238460]	uncertain significance	17	28548074	28548074	Human		name
38496300	CV958012	single nucleotide variant	NM_005148.4(UNC119):c.674G>A (p.Arg225Gln)	not provided [RCV001242471]	uncertain significance	17	28547346	28547346	Human		name
38460683	CV958013	single nucleotide variant	NM_005148.4(UNC119):c.625C>T (p.Arg209Cys)	not provided [RCV001246789]	uncertain significance	17	28547395	28547395	Human		name
126741515	CV997389	single nucleotide variant	NM_005148.4(UNC119):c.503G>A (p.Arg168His)	not provided [RCV001295914]	uncertain significance	17	28547784	28547784	Human		name
126752792	CV997390	single nucleotide variant	NM_005148.4(UNC119):c.380G>A (p.Arg127His)	not provided [RCV001297792]\|not specified [RCV004887672]	uncertain significance	17	28548056	28548056	Human		name
126766051	CV997391	single nucleotide variant	NM_005148.4(UNC119):c.353G>A (p.Arg118Gln)	Idiopathic CD4 lymphocytopenia [RCV002486160]\|not provided [RCV001301732]	uncertain significance	17	28548083	28548083	Human	2	name
405049241	CV3025424	duplication	NM_005148.4(UNC119):c.423_433dup (p.Ala145fs)	not provided [RCV003696887]	uncertain significance	17	28548002	28548003	Human		name
156093755	CV2014221	insertion	NM_005148.4(UNC119):c.593_594insG (p.Leu199fs)	not provided [RCV002695038]	uncertain significance	17	28547693	28547694	Human		name
38464394	CV937758	deletion	NM_005148.4(UNC119):c.7del (p.Lys2_Val3insTer)	UNC119-related disorder [RCV004746264]\|not provided [RCV001201564]	uncertain significance	17	28552551	28552551	Human	1	name , trait , alternate_id
405237984	CV3166992	duplication	NM_005148.4(UNC119):c.147_152dup (p.Pro51_Gly52insArgPro)	not provided [RCV003854247]	uncertain significance	17	28552405	28552406	Human		name
407454506	CV3489251	single nucleotide variant	NM_001080533.3(UNC119B):c.7G>A (p.Gly3Arg)	not specified [RCV004685113]	uncertain significance	12	120710481	120710481	Human		name
407454512	CV3489253	single nucleotide variant	NM_001080533.3(UNC119B):c.7G>T (p.Gly3Trp)	not specified [RCV004685115]	uncertain significance	12	120710481	120710481	Human		name
156262354	CV2287598	single nucleotide variant	NM_001080533.3(UNC119B):c.56G>A (p.Gly19Glu)	not specified [RCV004141038]	uncertain significance	12	120710530	120710530	Human		name
401752104	CV2714125	single nucleotide variant	NM_001080533.3(UNC119B):c.52G>A (p.Gly18Arg)	not specified [RCV004317379]	uncertain significance	12	120710526	120710526	Human		name
405805708	CV3348326	single nucleotide variant	NM_001080533.3(UNC119B):c.52G>C (p.Gly18Arg)	not specified [RCV004479847]	uncertain significance	12	120710526	120710526	Human		name
156154980	CV2242420	single nucleotide variant	NM_001080533.3(UNC119B):c.173C>T (p.Thr58Met)	not specified [RCV004111420]	uncertain significance	12	120710647	120710647	Human		name
329382026	CV2441699	single nucleotide variant	NM_001080533.3(UNC119B):c.109C>A (p.Arg37Ser)	not specified [RCV004259512]	uncertain significance	12	120710583	120710583	Human		name
401881523	CV2759445	single nucleotide variant	NM_001080533.3(UNC119B):c.196G>C (p.Asp66His)	not specified [RCV004338441]	uncertain significance	12	120710670	120710670	Human		name
405805706	CV3348325	single nucleotide variant	NM_001080533.3(UNC119B):c.205C>T (p.Arg69Trp)	not specified [RCV004479846]	uncertain significance	12	120710679	120710679	Human		name
407454503	CV3489250	single nucleotide variant	NM_001080533.3(UNC119B):c.206G>A (p.Arg69Gln)	not specified [RCV004685112]	uncertain significance	12	120710680	120710680	Human		name
407454509	CV3489252	single nucleotide variant	NM_001080533.3(UNC119B):c.115A>G (p.Lys39Glu)	not specified [RCV004685114]	uncertain significance	12	120710589	120710589	Human		name
597720720	CV3632727	single nucleotide variant	NM_001080533.3(UNC119B):c.251T>C (p.Leu84Ser)	not specified [RCV004887853]	uncertain significance	12	120713280	120713280	Human		name
155920006	CV2279524	single nucleotide variant	NM_001080533.3(UNC119B):c.701A>G (p.Asp234Gly)	not specified [RCV004142040]	uncertain significance	12	120719977	120719977	Human		name
156125682	CV2283650	single nucleotide variant	NM_001080533.3(UNC119B):c.668A>T (p.Tyr223Phe)	not specified [RCV004142191]	uncertain significance	12	120719944	120719944	Human		name
156205608	CV2311425	single nucleotide variant	NM_001080533.3(UNC119B):c.412C>T (p.Arg138Cys)	not specified [RCV004168272]	uncertain significance	12	120716681	120716681	Human		name
155975417	CV2327779	single nucleotide variant	NM_001080533.3(UNC119B):c.659A>G (p.Glu220Gly)	not specified [RCV004179125]	uncertain significance	12	120719935	120719935	Human		name
155963410	CV2388393	single nucleotide variant	NM_001080533.3(UNC119B):c.437C>T (p.Pro146Leu)	not specified [RCV004234841]	uncertain significance	12	120716706	120716706	Human		name
401861679	CV2756408	single nucleotide variant	NM_001080533.3(UNC119B):c.325G>A (p.Val109Ile)	not specified [RCV004342949]	uncertain significance	12	120713354	120713354	Human		name
405805711	CV3348327	single nucleotide variant	NM_001080533.3(UNC119B):c.541C>T (p.His181Tyr)	not specified [RCV004479848]	uncertain significance	12	120716940	120716940	Human		name
407454515	CV3489254	single nucleotide variant	NM_001080533.3(UNC119B):c.461T>C (p.Val154Ala)	not specified [RCV004685116]	uncertain significance	12	120716730	120716730	Human		name
597790299	CV3632726	single nucleotide variant	NM_001080533.3(UNC119B):c.425A>G (p.Tyr142Cys)	not specified [RCV004876314]	uncertain significance	12	120716694	120716694	Human		name
597720729	CV3632728	single nucleotide variant	NM_001080533.3(UNC119B):c.482C>T (p.Thr161Ile)	not specified [RCV004887854]	uncertain significance	12	120716881	120716881	Human		name
598190962	CV3925526	single nucleotide variant	NM_001080533.3(UNC119B):c.610A>T (p.Ile204Phe)	not specified [RCV005288283]	uncertain significance	12	120717009	120717009	Human		name
8634536	CV89756	single nucleotide variant	NM_001080533.2(UNC119B):c.664C>T (p.Pro222Ser)	Malignant melanoma [RCV000069853]	not provided	12	120719940	120719940	Human		name

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