Colec11 Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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114 records found for search term Colec11

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
8568713	CV39930	deletion	COLEC11, EX1-3DEL	3MC syndrome 2 [RCV000023964]	pathogenic				Human	1	name
151870637	CV1466543	single nucleotide variant	NM_024027.5(COLEC11):c.329-4G>T	not provided [RCV001906430]	likely benign\|uncertain significance	2	3643440	3643440	Human		name
156374122	CV2123925	single nucleotide variant	NM_024027.5(COLEC11):c.425-9A>G	not provided [RCV002942567]	benign	2	3643718	3643718	Human		name
405274791	CV3204461	single nucleotide variant	NM_024027.5(COLEC11):c.329-6C>T	COLEC11-related disorder [RCV003951901]	likely benign	2	3643438	3643438	Human		name , trait , alternate_id
405283073	CV3218402	single nucleotide variant	NM_024027.5(COLEC11):c.130+6C>T	COLEC11-related disorder [RCV003957209]	likely benign	2	3604476	3604476	Human		name , trait , alternate_id
405261959	CV3219947	single nucleotide variant	NM_024027.5(COLEC11):c.-26-5T>C	COLEC11-related disorder [RCV003967110]	likely benign	2	3604310	3604310	Human		name , trait , alternate_id
405654055	CV3228091	single nucleotide variant	NM_024027.5(COLEC11):c.131-3C>T	not specified [RCV003994825]	uncertain significance	2	3613308	3613308	Human		name
597915431	CV3740723	single nucleotide variant	NM_024027.5(COLEC11):c.425-3C>T	not provided [RCV005074060]	uncertain significance	2	3643724	3643724	Human		name
152057955	CV1567425	single nucleotide variant	NM_024027.5(COLEC11):c.202+19C>T	not provided [RCV002146459]	benign	2	3613401	3613401	Human		name
156240420	CV1952974	single nucleotide variant	NM_024027.5(COLEC11):c.329-19G>A	not provided [RCV002576199]	likely benign	2	3643425	3643425	Human		name
156172959	CV2016237	single nucleotide variant	NM_024027.5(COLEC11):c.130+15G>A	not provided [RCV002710538]	likely benign	2	3604485	3604485	Human		name
156182027	CV2020521	single nucleotide variant	NM_024027.5(COLEC11):c.425-16C>T	not provided [RCV002710812]	likely benign	2	3643711	3643711	Human		name
156037602	CV2047722	single nucleotide variant	NM_024027.5(COLEC11):c.424+16C>T	not provided [RCV002781369]	benign	2	3643555	3643555	Human		name
156249636	CV2168988	single nucleotide variant	NM_024027.5(COLEC11):c.202+10G>A	not provided [RCV003026293]	likely benign	2	3613392	3613392	Human		name
405144054	CV3126125	single nucleotide variant	NM_024027.5(COLEC11):c.424+13C>T	not provided [RCV003817041]	likely benign	2	3643552	3643552	Human		name
405204839	CV3165597	single nucleotide variant	NM_024027.5(COLEC11):c.424+20G>A	not provided [RCV003861263]	likely benign	2	3643559	3643559	Human		name
10045299	CV189102	single nucleotide variant	NM_024027.5(COLEC11):c.-26-701G>C	not specified [RCV000171491]	likely pathogenic\|uncertain significance	2	3603614	3603614	Human		name
405286328	CV3196575	single nucleotide variant	NM_024027.5(COLEC11):c.-26-646C>T	COLEC11-related disorder [RCV003981428]	likely benign	2	3603669	3603669	Human		name , trait , alternate_id
405291713	CV3206047	single nucleotide variant	NM_024027.5(COLEC11):c.-26-679G>A	COLEC11-related disorder [RCV003964135]	likely benign	2	3603636	3603636	Human		name , trait , alternate_id
405294317	CV3214835	single nucleotide variant	NM_024027.5(COLEC11):c.-26-670G>A	COLEC11-related disorder [RCV003934248]	likely benign	2	3603645	3603645	Human		name , trait , alternate_id
405266963	CV3220209	single nucleotide variant	NM_024027.5(COLEC11):c.-26-645G>A	COLEC11-related disorder [RCV003969460]	likely benign	2	3603670	3603670	Human		name , trait , alternate_id
405273064	CV3197583	single nucleotide variant	NM_024027.5(COLEC11):c.130+1716T>C	COLEC11-related disorder [RCV003901551]	likely benign	2	3606186	3606186	Human		name , trait , alternate_id
405264992	CV3201443	single nucleotide variant	NM_024027.5(COLEC11):c.130+1740A>T	COLEC11-related disorder [RCV003897201]	uncertain significance	2	3606210	3606210	Human		name , trait , alternate_id
408377959	CV3500889	single nucleotide variant	NM_024027.5(COLEC11):c.130+1748C>T	not provided [RCV004722539]	likely benign	2	3606218	3606218	Human		name
408367004	CV3511457	single nucleotide variant	NM_024027.5(COLEC11):c.130+1753G>C	COLEC11-related disorder [RCV004757737]	likely benign	2	3606223	3606223	Human		name , trait , alternate_id
12896626	CV389501	single nucleotide variant	NM_024027.5(COLEC11):c.130+1784T>C	not provided [RCV004710034]\|not specified [RCV000455602]	benign	2	3606254	3606254	Human		name
405290187	CV3221387	single nucleotide variant	NM_024027.5(COLEC11):c.203-11487C>T	COLEC11-related disorder [RCV003962224]	likely benign	2	3626046	3626046	Human		name , trait , alternate_id
12896300	CV389503	single nucleotide variant	NM_024027.5(COLEC11):c.203-11475G>A	not provided [RCV004710033]\|not specified [RCV000455169]	benign	2	3626058	3626058	Human		name
15168427	CV730140	duplication	NM_024027.5(COLEC11):c.329-6_329-5dup	COLEC11-related disorder [RCV003920583]\|not provided [RCV000883061]	likely benign	2	3643434	3643435	Human	1	name , trait , alternate_id
126732958	CV1019647	deletion	NM_024027.5(COLEC11):c.26del (p.Gly9fs)	3MC syndrome 2 [RCV001334175]	pathogenic	2	3604364	3604364	Human		name
152105975	CV1609571	single nucleotide variant	NM_024027.5(COLEC11):c.243T>C (p.Arg81=)	not provided [RCV002115938]	benign	2	3637573	3637573	Human		name
152161728	CV1635623	single nucleotide variant	NM_024027.5(COLEC11):c.255T>C (p.Ile85=)	not provided [RCV002203549]	benign	2	3637585	3637585	Human		name
155938982	CV2225270	single nucleotide variant	NM_024027.5(COLEC11):c.26G>T (p.Gly9Val)	Inborn genetic diseases [RCV002751668]	uncertain significance	2	3604366	3604366	Human	1	name
155906201	CV2393899	single nucleotide variant	NM_024027.5(COLEC11):c.11A>G (p.Asn4Ser)	Inborn genetic diseases [RCV002749486]	uncertain significance	2	3604351	3604351	Human	1	name
401751958	CV2723069	single nucleotide variant	NM_024027.5(COLEC11):c.10A>C (p.Asn4His)	Inborn genetic diseases [RCV003295676]	uncertain significance	2	3604350	3604350	Human	1	name
404979182	CV3183154	single nucleotide variant	NM_024027.5(COLEC11):c.162C>T (p.Ala54=)	not provided [RCV003880177]	likely benign	2	3613342	3613342	Human		name
405265879	CV3220947	single nucleotide variant	NM_024027.5(COLEC11):c.114C>T (p.Leu38=)	COLEC11-related disorder [RCV003969104]	uncertain significance	2	3604454	3604454	Human		name , trait , alternate_id
405656731	CV3306339	single nucleotide variant	NM_024027.5(COLEC11):c.111C>T (p.Ile37=)	Inborn genetic diseases [RCV004437681]	likely benign	2	3604451	3604451	Human	1	name
597663754	CV3654032	single nucleotide variant	NM_024027.5(COLEC11):c.192G>A (p.Thr64=)	Inborn genetic diseases [RCV004979014]	likely benign	2	3613372	3613372	Human	1	name
598233370	CV3948779	single nucleotide variant	NM_024027.5(COLEC11):c.135T>C (p.Asp45=)	Inborn genetic diseases [RCV005319919]	likely benign	2	3613315	3613315	Human	1	name
8568709	CV39926	deletion	NM_024027.5(COLEC11):c.45del (p.Phe16fs)	3MC syndrome 2 [RCV000023960]	pathogenic	2	3604384	3604384	Human	1	name
13462769	CV439000	single nucleotide variant	NM_024027.5(COLEC11):c.23T>C (p.Val8Ala)	not provided [RCV000514798]	benign\|likely benign	2	3604363	3604363	Human		name
15162938	CV719867	single nucleotide variant	NM_024027.5(COLEC11):c.165C>T (p.Pro55=)	Inborn genetic diseases [RCV003279136]\|not provided [RCV000881860]	likely benign	2	3613345	3613345	Human	1	name
15202175	CV763210	single nucleotide variant	NM_024027.5(COLEC11):c.291C>T (p.Ser97=)	not provided [RCV000935870]	benign\|likely benign	2	3640294	3640294	Human		name
156401147	CV1889073	single nucleotide variant	NM_024027.5(COLEC11):c.492G>A (p.Ala164=)	not provided [RCV003069148]	likely benign	2	3643794	3643794	Human		name
156031125	CV1910804	single nucleotide variant	NM_024027.5(COLEC11):c.636C>T (p.Gly212=)	COLEC11-related disorder [RCV003953928]\|not provided [RCV002619857]	likely benign	2	3643938	3643938	Human	1	name , trait , alternate_id
156279613	CV1967849	single nucleotide variant	NM_024027.5(COLEC11):c.429C>T (p.Val143=)	not provided [RCV002598353]	likely benign	2	3643731	3643731	Human		name
156414422	CV1986647	single nucleotide variant	NM_024027.5(COLEC11):c.711C>T (p.Tyr237=)	not provided [RCV002609193]	likely benign	2	3644013	3644013	Human		name
329379235	CV2456167	single nucleotide variant	NM_024027.5(COLEC11):c.94G>A (p.Ala32Thr)	Inborn genetic diseases [RCV003212427]	uncertain significance	2	3604434	3604434	Human	1	name
329350988	CV2477818	deletion	NM_024027.5(COLEC11):c.241del (p.Arg81fs)	not provided [RCV003223931]	likely pathogenic	2	3637571	3637571	Human		name
401910843	CV2815496	single nucleotide variant	NM_024027.5(COLEC11):c.345C>T (p.Cys115=)	not provided [RCV003425489]	likely benign	2	3643460	3643460	Human		name
402501333	CV3180971	single nucleotide variant	NM_024027.5(COLEC11):c.717G>A (p.Glu239=)	not provided [RCV003877988]	likely benign	2	3644019	3644019	Human		name
405268261	CV3198886	single nucleotide variant	NM_024027.5(COLEC11):c.690C>T (p.Ser230=)	COLEC11-related disorder [RCV003912004]	likely benign	2	3643992	3643992	Human		name , trait , alternate_id
405269004	CV3199126	single nucleotide variant	NM_024027.5(COLEC11):c.576C>T (p.Tyr192=)	COLEC11-related disorder [RCV003912229]	likely benign	2	3643878	3643878	Human		name , trait , alternate_id
405290616	CV3207587	single nucleotide variant	NM_024027.5(COLEC11):c.642C>T (p.Phe214=)	COLEC11-related disorder [RCV003927158]	likely benign	2	3643944	3643944	Human		name , trait , alternate_id
405295073	CV3210973	single nucleotide variant	NM_024027.5(COLEC11):c.726C>T (p.Cys242=)	COLEC11-related disorder [RCV003936980]	likely benign	2	3644028	3644028	Human		name , trait , alternate_id
405278321	CV3221871	single nucleotide variant	NM_024027.5(COLEC11):c.528G>A (p.Thr176=)	COLEC11-related disorder [RCV003976430]	likely benign	2	3643830	3643830	Human		name , trait , alternate_id
405853966	CV3393725	single nucleotide variant	NM_024027.5(COLEC11):c.333C>T (p.Leu111=)	not provided [RCV004546951]	likely benign	2	3643448	3643448	Human		name
408367046	CV3512213	single nucleotide variant	NM_024027.5(COLEC11):c.315T>C (p.Pro105=)	COLEC11-related disorder [RCV004757778]	likely benign	2	3640318	3640318	Human		name , trait , alternate_id
597663760	CV3654033	single nucleotide variant	NM_024027.5(COLEC11):c.28G>A (p.Val10Ile)	Inborn genetic diseases [RCV004979015]	uncertain significance	2	3604368	3604368	Human	1	name
597858310	CV3748253	single nucleotide variant	NM_024027.5(COLEC11):c.744G>C (p.Ser248=)	not provided [RCV005067075]	likely benign	2	3644046	3644046	Human		name
597946421	CV3790129	single nucleotide variant	NM_024027.5(COLEC11):c.651T>C (p.Ser217=)	not provided [RCV005134830]	likely benign	2	3643953	3643953	Human		name
598128521	CV3887725	single nucleotide variant	NM_024027.5(COLEC11):c.378C>T (p.Asp126=)	not provided [RCV005243899]	likely benign	2	3643493	3643493	Human		name
15190823	CV697559	single nucleotide variant	NM_024027.5(COLEC11):c.366C>T (p.Ile122=)	not provided [RCV000954591]	benign	2	3643481	3643481	Human		name
15171700	CV697560	single nucleotide variant	NM_024027.5(COLEC11):c.432C>T (p.Ala144=)	not provided [RCV000949880]	benign	2	3643734	3643734	Human		name
15191707	CV697561	single nucleotide variant	NM_024027.5(COLEC11):c.777C>T (p.Thr259=)	not provided [RCV000954854]	benign\|likely benign	2	3644079	3644079	Human		name
15183555	CV708263	single nucleotide variant	NM_024027.5(COLEC11):c.360G>A (p.Lys120=)	not provided [RCV000974903]	benign	2	3643475	3643475	Human		name
15105308	CV747622	single nucleotide variant	NM_024027.5(COLEC11):c.588C>T (p.Ala196=)	not provided [RCV000915520]	likely benign	2	3643890	3643890	Human		name
15136037	CV747623	single nucleotide variant	NM_024027.5(COLEC11):c.744G>A (p.Ser248=)	not provided [RCV000920948]	likely benign	2	3644046	3644046	Human		name
15129128	CV781325	single nucleotide variant	NM_024027.5(COLEC11):c.615C>A (p.Ile205=)	not provided [RCV000980826]	likely benign	2	3643917	3643917	Human		name
8630340	CV85495	single nucleotide variant	NM_024027.4(COLEC11):c.507C>T (p.Ser169=)	Malignant melanoma [RCV000065578]	not provided	2	3643809	3643809	Human		name
41407721	CV980445	single nucleotide variant	NM_024027.5(COLEC11):c.28G>T (p.Val10Phe)	3MC syndrome 2 [RCV001280966]	uncertain significance	2	3604368	3604368	Human	1	name
156028012	CV1922998	single nucleotide variant	NM_024027.5(COLEC11):c.137C>T (p.Ala46Val)	not provided [RCV002637033]	uncertain significance	2	3613317	3613317	Human		name
156023597	CV2115995	single nucleotide variant	NM_024027.5(COLEC11):c.242G>A (p.Arg81His)	COLEC11-related disorder [RCV003961228]\|Inborn genetic diseases [RCV002909732]\|not provided [RCV002909731]	likely benign	2	3637572	3637572	Human	2	name , trait , alternate_id
156386951	CV2221361	single nucleotide variant	NM_024027.5(COLEC11):c.172C>G (p.Pro58Ala)	Inborn genetic diseases [RCV002723776]	uncertain significance	2	3613352	3613352	Human	1	name
401770675	CV2707341	single nucleotide variant	NM_024027.5(COLEC11):c.224A>G (p.Gln75Arg)	Inborn genetic diseases [RCV003261181]	uncertain significance	2	3637554	3637554	Human	1	name
401854894	CV2752659	single nucleotide variant	NM_024027.5(COLEC11):c.284G>T (p.Gly95Val)	3MC syndrome 2 [RCV003337713]	uncertain significance	2	3640287	3640287	Human	1	name
405656733	CV3306340	single nucleotide variant	NM_024027.5(COLEC11):c.239G>C (p.Gly80Ala)	Inborn genetic diseases [RCV004437682]	uncertain significance	2	3637569	3637569	Human	1	name
8568712	CV39929	deletion	NM_024027.5(COLEC11):c.309del (p.Gly104fs)	3MC syndrome 2 [RCV000023963]\|not provided [RCV002513213]	pathogenic\|uncertain significance	2	3640312	3640312	Human	1	name
15183000	CV733463	single nucleotide variant	NM_024027.5(COLEC11):c.169C>T (p.Arg57Trp)	COLEC11-related disorder [RCV003977944]\|not provided [RCV000907960]	likely benign	2	3613349	3613349	Human	1	name , trait , alternate_id
15172853	CV733464	single nucleotide variant	NM_024027.5(COLEC11):c.191C>T (p.Thr64Met)	COLEC11-related disorder [RCV003958226]\|not provided [RCV000905751]	likely benign\|uncertain significance	2	3613371	3613371	Human	1	name , trait , alternate_id
126739904	CV1016066	single nucleotide variant	NM_024027.5(COLEC11):c.307C>T (p.Pro103Ser)	3MC syndrome 2 [RCV001329308]	uncertain significance	2	3640310	3640310	Human	1	name
151768059	CV1409452	single nucleotide variant	NM_024027.5(COLEC11):c.643G>T (p.Val215Leu)	not provided [RCV001896059]	uncertain significance	2	3643945	3643945	Human		name
152115547	CV1641204	single nucleotide variant	NM_024027.5(COLEC11):c.656A>G (p.His219Arg)	not provided [RCV002117136]	benign	2	3643958	3643958	Human	2	name
152115547	CV1641204	single nucleotide variant	NM_024027.5(COLEC11):c.656A>G (p.His219Arg)	not provided [RCV002117136]	benign	2	3643958	3643959	Human	2	name
156135918	CV1901926	single nucleotide variant	NM_024027.5(COLEC11):c.581C>T (p.Ala194Val)	Inborn genetic diseases [RCV003073517]\|not provided [RCV003082013]	uncertain significance	2	3643883	3643883	Human	1	name
156446471	CV1937947	single nucleotide variant	NM_024027.5(COLEC11):c.637G>A (p.Ala213Thr)	not provided [RCV003117976]	uncertain significance	2	3643939	3643939	Human		name
156252119	CV1984871	single nucleotide variant	NM_024027.5(COLEC11):c.368G>A (p.Gly123Glu)	not provided [RCV002645931]	uncertain significance	2	3643483	3643483	Human		name
155994464	CV2156163	single nucleotide variant	NM_024027.5(COLEC11):c.557A>G (p.Asn186Ser)	not provided [RCV002996721]	uncertain significance	2	3643859	3643859	Human		name
156168223	CV2197663	single nucleotide variant	NM_024027.5(COLEC11):c.622C>G (p.Leu208Val)	Inborn genetic diseases [RCV002664573]	uncertain significance	2	3643924	3643924	Human	1	name
155920064	CV2209865	single nucleotide variant	NM_024027.5(COLEC11):c.491C>T (p.Ala164Val)	Inborn genetic diseases [RCV002682725]	likely benign	2	3643793	3643793	Human	1	name
156215348	CV2257565	single nucleotide variant	NM_024027.5(COLEC11):c.328G>T (p.Gly110Cys)	Inborn genetic diseases [RCV002804363]	uncertain significance	2	3640331	3640331	Human	1	name
156087882	CV2259011	single nucleotide variant	NM_024027.5(COLEC11):c.734T>C (p.Met245Thr)	Inborn genetic diseases [RCV002798326]	uncertain significance	2	3644036	3644036	Human	1	name
156298711	CV2310651	single nucleotide variant	NM_024027.5(COLEC11):c.691G>A (p.Gly231Ser)	Inborn genetic diseases [RCV002897750]	uncertain significance	2	3643993	3643993	Human	1	name
156267981	CV2398394	single nucleotide variant	NM_024027.5(COLEC11):c.434G>T (p.Gly145Val)	Inborn genetic diseases [RCV002769858]	uncertain significance	2	3643736	3643736	Human	1	name
243064667	CV2414861	single nucleotide variant	NM_024027.5(COLEC11):c.508T>C (p.Cys170Arg)	3MC syndrome 2 [RCV003143336]	uncertain significance	2	3643810	3643810	Human	1	name
401717917	CV2725015	single nucleotide variant	NM_024027.5(COLEC11):c.686G>A (p.Arg229His)	Inborn genetic diseases [RCV003242879]	uncertain significance	2	3643988	3643988	Human	1	name
401855603	CV2753021	single nucleotide variant	NM_024027.5(COLEC11):c.440G>A (p.Arg147His)	3MC syndrome 2 [RCV003338076]	uncertain significance	2	3643742	3643742	Human	1	name
402497569	CV2871635	single nucleotide variant	NM_024027.5(COLEC11):c.514G>A (p.Gly172Ser)	not provided [RCV003545574]	likely benign	2	3643816	3643816	Human		name
405656593	CV3227913	deletion	NM_024027.5(COLEC11):c.82_94del (p.Ala28fs)	3MC syndrome [RCV003994655]	pathogenic	2	3604420	3604432	Human	1	name
407452052	CV3423253	single nucleotide variant	NM_024027.5(COLEC11):c.367G>A (p.Gly123Arg)	Inborn genetic diseases [RCV004608284]	uncertain significance	2	3643482	3643482	Human	1	name
407452055	CV3423254	single nucleotide variant	NM_024027.5(COLEC11):c.599G>A (p.Arg200His)	Inborn genetic diseases [RCV004608285]	uncertain significance	2	3643901	3643901	Human	1	name
597663741	CV3654030	single nucleotide variant	NM_024027.5(COLEC11):c.415A>G (p.Ile139Val)	Inborn genetic diseases [RCV004979012]	uncertain significance	2	3643530	3643530	Human	1	name
597663747	CV3654031	single nucleotide variant	NM_024027.5(COLEC11):c.307C>G (p.Pro103Ala)	Inborn genetic diseases [RCV004979013]	uncertain significance	2	3640310	3640310	Human	1	name
597938785	CV3852907	single nucleotide variant	NM_024027.5(COLEC11):c.304C>A (p.Pro102Thr)	not provided [RCV005187308]	uncertain significance	2	3640307	3640307	Human		name
598233361	CV3948777	single nucleotide variant	NM_024027.5(COLEC11):c.658T>A (p.Ser220Thr)	Inborn genetic diseases [RCV005319917]	uncertain significance	2	3643960	3643960	Human	1	name
598233366	CV3948778	single nucleotide variant	NM_024027.5(COLEC11):c.748G>A (p.Gly250Ser)	Inborn genetic diseases [RCV005319918]	uncertain significance	2	3644050	3644050	Human	1	name
598233374	CV3948780	single nucleotide variant	NM_024027.5(COLEC11):c.389C>G (p.Ser130Cys)	Inborn genetic diseases [RCV005319920]	uncertain significance	2	3643504	3643504	Human	1	name
8568708	CV39925	single nucleotide variant	NM_024027.5(COLEC11):c.505T>C (p.Ser169Pro)	3MC syndrome 2 [RCV000023959]	pathogenic	2	3643807	3643807	Human	1	name
8568710	CV39927	single nucleotide variant	NM_024027.5(COLEC11):c.610G>A (p.Gly204Ser)	3MC syndrome 2 [RCV000023961]\|not provided [RCV003228901]	pathogenic	2	3643912	3643912	Human	1	name
617151237	CV4017793	single nucleotide variant	NM_024027.5(COLEC11):c.496G>A (p.Ala166Thr)	3MC syndrome 2 [RCV005417580]	uncertain significance	2	3643798	3643798	Human	1	name
14704277	CV626129	single nucleotide variant	NM_024027.5(COLEC11):c.433G>A (p.Gly145Ser)	3MC syndrome 2 [RCV000790996]	uncertain significance	2	3643735	3643735	Human	1	name
150405761	CV1176169	insertion	NM_024027.5(COLEC11):c.240_241insGA (p.Arg81fs)	3MC syndrome 2 [RCV005419168]\|Inborn genetic diseases [RCV002568957]\|not provided [RCV001545004]	pathogenic\|uncertain significance	2	3637570	3637571	Human	2	name
8568711	CV39928	deletion	NM_024027.5(COLEC11):c.648_650del (p.Ser217del)	3MC syndrome 2 [RCV000023962]	pathogenic	2	3643950	3643952	Human	1	name

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