Chl1 Variant Search Result - Rat Genome Database

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217 records found for search term Chl1

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
15187044	CV777410	single nucleotide variant	NM_006614.4(CHL1):c.92-3T>A	CHL1-related disorder [RCV003935817]\|not provided [RCV000953470]	benign	3	325956	325956	Human		name , trait , alternate_id
401912409	CV2819813	single nucleotide variant	NM_006614.4(CHL1):c.849-3C>T	not provided [RCV003427277]	uncertain significance	3	349356	349356	Human		name
405262464	CV3200359	single nucleotide variant	NM_006614.4(CHL1):c.679+7C>T	CHL1-related disorder [RCV003967313]	likely benign	3	342089	342089	Human		name , trait , alternate_id
15151083	CV730208	single nucleotide variant	NM_006614.4(CHL1):c.385+9T>G	CHL1-related disorder [RCV003895402]\|not provided [RCV000879520]	likely benign	3	328363	328363	Human		name , trait , alternate_id
152156543	CV1668559	single nucleotide variant	NM_006614.4(CHL1):c.197+10G>C	CHL1-related disorder [RCV003984243]\|not provided [RCV002222841]	benign	3	326074	326074	Human		name , trait , alternate_id
401912411	CV2819814	single nucleotide variant	NM_006614.4(CHL1):c.1978+4G>A	not provided [RCV003427278]	likely benign	3	382284	382284	Human		name
15201354	CV730216	single nucleotide variant	NM_006614.4(CHL1):c.3458+6C>T	not provided [RCV000891169]	benign	3	401704	401704	Human		name
15128947	CV774955	single nucleotide variant	NM_006614.4(CHL1):c.1034-4C>T	CHL1-related disorder [RCV003970625]\|not provided [RCV000941799]	likely benign	3	354636	354636	Human		name , trait , alternate_id
15200344	CV730211	single nucleotide variant	NM_006614.4(CHL1):c.1306+10C>T	not provided [RCV000890887]	benign	3	360434	360434	Human		name
15168772	CV759181	single nucleotide variant	NM_006614.4(CHL1):c.1306+10C>A	CHL1-related disorder [RCV003970548]\|not provided [RCV000927362]	benign\|likely benign	3	360434	360434	Human		name , trait , alternate_id
15201138	CV759284	single nucleotide variant	NM_006614.4(CHL1):c.3253+10G>C	not provided [RCV000913051]	likely benign	3	398395	398395	Human		name
8578594	CV112979	single nucleotide variant	NM_001253387.1(CHL1):c.-174-21946C>T	Lung cancer [RCV000093502]	uncertain significance	3	222667	222667	Human		name
401874414	CV2759201	single nucleotide variant	NM_006614.4(CHL1):c.7C>A (p.Pro3Thr)	not specified [RCV004342489]	uncertain significance	3	319783	319783	Human		name
15202195	CV763815	single nucleotide variant	NM_006614.4(CHL1):c.36A>G (p.Val12=)	not provided [RCV000935876]	likely benign	3	319812	319812	Human		name
40815476	CV970765	single nucleotide variant	NM_006614.4(CHL1):c.5A>G (p.Glu2Gly)	Seizure [RCV001262903]	uncertain significance	3	319781	319781	Human	2	name
15149404	CV734024	single nucleotide variant	NM_006614.4(CHL1):c.240C>T (p.Asp80=)	not provided [RCV000900927]	likely benign	3	328209	328209	Human		name
15132365	CV734025	single nucleotide variant	NM_006614.4(CHL1):c.279G>A (p.Arg93=)	not provided [RCV000897943]	benign\|likely benign	3	328248	328248	Human		name
15098717	CV748203	single nucleotide variant	NM_006614.4(CHL1):c.204G>A (p.Ser68=)	not provided [RCV000914314]	benign	3	328173	328173	Human		name
401780718	CV2685682	single nucleotide variant	NM_006614.4(CHL1):c.95A>G (p.Gln32Arg)	not specified [RCV004296735]	uncertain significance	3	325962	325962	Human		name
405284302	CV3196705	single nucleotide variant	NM_006614.4(CHL1):c.49C>T (p.Leu17Phe)	CHL1-related disorder [RCV003979604]	benign	3	319825	319825	Human		name , trait , alternate_id
15156497	CV698034	single nucleotide variant	NM_006614.4(CHL1):c.88T>G (p.Ser30Ala)	not provided [RCV000946710]	benign	3	319864	319864	Human		name
15160617	CV708793	single nucleotide variant	NM_006614.4(CHL1):c.438A>C (p.Gly146=)	not provided [RCV000969936]	likely benign	3	340846	340846	Human		name
15137472	CV708794	single nucleotide variant	NM_006614.4(CHL1):c.648G>A (p.Gln216=)	not provided [RCV000965625]	benign	3	342051	342051	Human		name
15200506	CV720402	single nucleotide variant	NM_006614.4(CHL1):c.28C>G (p.Leu10Val)	CHL1-related disorder [RCV003920749]\|not provided [RCV000890932]	likely benign	3	319804	319804	Human		name , trait , alternate_id
15159177	CV748213	single nucleotide variant	NM_006614.4(CHL1):c.522C>T (p.Ile174=)	not provided [RCV000925227]	likely benign	3	341925	341925	Human		name
15103038	CV748214	single nucleotide variant	NM_006614.4(CHL1):c.570C>T (p.Phe190=)	CHL1-related disorder [RCV003923215]\|not provided [RCV000915085]	likely benign	3	341973	341973	Human		name , trait , alternate_id
15171888	CV763825	single nucleotide variant	NM_006614.4(CHL1):c.576C>T (p.Asn192=)	not provided [RCV000927997]	likely benign	3	341979	341979	Human		name
15183802	CV778979	microsatellite	NM_006614.4(CHL1):c.2586+12_2586+14del	not provided [RCV000974960]	benign	3	390823	390825	Human		name
127298387	CV1113892	single nucleotide variant	NM_006614.4(CHL1):c.128T>C (p.Val43Ala)	not provided [RCV001460548]\|not specified [RCV004038589]	likely benign\|uncertain significance	3	325995	325995	Human		name
156231317	CV2199652	single nucleotide variant	NM_006614.4(CHL1):c.194C>T (p.Pro65Leu)	not specified [RCV004072390]	uncertain significance	3	326061	326061	Human		name
401912520	CV2819815	single nucleotide variant	NM_006614.4(CHL1):c.2281C>T (p.Leu761=)	not provided [RCV003427279]	benign	3	389285	389285	Human		name
405069688	CV2876378	single nucleotide variant	NM_006614.4(CHL1):c.2388T>G (p.Pro796=)	not provided [RCV003548453]	likely benign	3	389392	389392	Human		name
405261089	CV3186050	single nucleotide variant	NM_006614.4(CHL1):c.1851C>T (p.Ala617=)	not provided [RCV003885126]	likely benign	3	377917	377917	Human		name
405275364	CV3196283	single nucleotide variant	NM_006614.4(CHL1):c.2172A>G (p.Pro724=)	CHL1-related disorder [RCV003974146]	likely benign	3	382667	382667	Human		name , trait , alternate_id
405276783	CV3198658	single nucleotide variant	NM_006614.4(CHL1):c.155A>G (p.Tyr52Cys)	CHL1-related disorder [RCV003903985]	likely benign	3	326022	326022	Human		name , trait , alternate_id
405287309	CV3217281	single nucleotide variant	NM_006614.4(CHL1):c.2655A>G (p.Arg885=)	CHL1-related disorder [RCV003981819]	likely benign	3	391023	391023	Human		name , trait , alternate_id
405661722	CV3297066	single nucleotide variant	NM_006614.4(CHL1):c.278G>A (p.Arg93Lys)	not specified [RCV004439263]	likely benign	3	328247	328247	Human		name
407455542	CV3422727	single nucleotide variant	NM_006614.4(CHL1):c.223C>A (p.Pro75Thr)	not specified [RCV004610355]	uncertain significance	3	328192	328192	Human		name
597769485	CV3653125	single nucleotide variant	NM_006614.4(CHL1):c.106A>G (p.Thr36Ala)	not specified [RCV004896745]	uncertain significance	3	325973	325973	Human		name
597770346	CV3653127	single nucleotide variant	NM_006614.4(CHL1):c.244C>T (p.Arg82Trp)	not specified [RCV004896747]	uncertain significance	3	328213	328213	Human		name
15130555	CV708830	single nucleotide variant	NM_006614.4(CHL1):c.2520A>G (p.Thr840=)	not provided [RCV000964455]	likely benign	3	390750	390750	Human		name
15195294	CV720411	single nucleotide variant	NM_006614.4(CHL1):c.1395T>C (p.Ala465=)	not provided [RCV000889462]	benign	3	361787	361787	Human		name
15176672	CV734031	single nucleotide variant	NM_006614.4(CHL1):c.1350T>C (p.Ala450=)	CHL1-related disorder [RCV003968329]\|not provided [RCV000906481]	likely benign	3	361742	361742	Human		name , trait , alternate_id
15166688	CV734038	single nucleotide variant	NM_006614.4(CHL1):c.2100C>T (p.Phe700=)	CHL1-related disorder [RCV003912917]\|not provided [RCV000904496]	benign\|likely benign	3	382595	382595	Human		name , trait , alternate_id
15177581	CV734047	single nucleotide variant	NM_006614.4(CHL1):c.2373T>C (p.Pro791=)	not provided [RCV000906686]	benign	3	389377	389377	Human		name
15170865	CV734049	single nucleotide variant	NM_006614.4(CHL1):c.2487A>G (p.Pro829=)	not provided [RCV000905349]	likely benign	3	390717	390717	Human		name
15130636	CV748221	single nucleotide variant	NM_006614.4(CHL1):c.1986T>C (p.Ile662=)	not provided [RCV000920043]	likely benign	3	382481	382481	Human		name
15189632	CV763887	single nucleotide variant	NM_006614.4(CHL1):c.2928C>T (p.Tyr976=)	not provided [RCV000932294]	likely benign	3	394706	394706	Human		name
15141461	CV781653	single nucleotide variant	NM_006614.4(CHL1):c.2118C>T (p.Asn706=)	not provided [RCV000982984]	likely benign	3	382613	382613	Human		name
8625618	CV80742	single nucleotide variant	NM_006614.3(CHL1):c.2028G>A (p.Glu676=)	Malignant melanoma [RCV000060819]	not provided	3	382523	382523	Human		name
8630821	CV85976	single nucleotide variant	NM_006614.3(CHL1):c.1837C>T (p.Leu613=)	Malignant melanoma [RCV000066060]	not provided	3	377903	377903	Human		name
127238307	CV1092368	single nucleotide variant	NM_006614.4(CHL1):c.323G>A (p.Arg108His)	not provided [RCV001433751]	likely benign	3	328292	328292	Human		name
127262632	CV1092369	single nucleotide variant	NM_006614.4(CHL1):c.323G>T (p.Arg108Leu)	not provided [RCV001439034]	likely benign	3	328292	328292	Human		name
156265095	CV2290013	single nucleotide variant	NM_006614.4(CHL1):c.658A>G (p.Met220Val)	not specified [RCV004152440]	uncertain significance	3	342061	342061	Human		name
155922959	CV2347415	single nucleotide variant	NM_006614.4(CHL1):c.671T>C (p.Val224Ala)	not specified [RCV004207253]	uncertain significance	3	342074	342074	Human	1	name
155922959	CV2347415	single nucleotide variant	NM_006614.4(CHL1):c.671T>C (p.Val224Ala)	not specified [RCV004207253]	uncertain significance	3	342074	342075	Human	1	name
156384083	CV2361811	single nucleotide variant	NM_006614.4(CHL1):c.998G>C (p.Gly333Ala)	not specified [RCV004223282]	uncertain significance	3	349508	349508	Human		name
156043183	CV2381525	single nucleotide variant	NM_006614.4(CHL1):c.595C>T (p.Arg199Cys)	not specified [RCV004230003]	uncertain significance	3	341998	341998	Human		name
401736278	CV2688748	single nucleotide variant	NM_006614.4(CHL1):c.853A>T (p.Thr285Ser)	not specified [RCV004303777]	uncertain significance	3	349363	349363	Human		name
401745045	CV2698453	single nucleotide variant	NM_006614.4(CHL1):c.692A>C (p.Asn231Thr)	not specified [RCV004298964]	uncertain significance	3	342996	342996	Human		name
401745049	CV2698454	single nucleotide variant	NM_006614.4(CHL1):c.974G>A (p.Arg325His)	not specified [RCV004298965]	uncertain significance	3	349484	349484	Human		name
401749931	CV2704833	single nucleotide variant	NM_006614.4(CHL1):c.648G>C (p.Gln216His)	not specified [RCV004307417]	uncertain significance	3	342051	342051	Human		name
401760653	CV2706036	single nucleotide variant	NM_006614.4(CHL1):c.767C>T (p.Pro256Leu)	not specified [RCV004314737]	uncertain significance	3	344628	344628	Human		name
401734611	CV2709554	single nucleotide variant	NM_006614.4(CHL1):c.298A>G (p.Ile100Val)	not provided [RCV004696458]\|not specified [RCV004318787]	uncertain significance	3	328267	328267	Human		name
401752256	CV2710698	single nucleotide variant	NM_006614.4(CHL1):c.424G>A (p.Glu142Lys)	not specified [RCV004319597]	uncertain significance	3	340832	340832	Human		name
401768489	CV2716631	single nucleotide variant	NM_006614.4(CHL1):c.897G>C (p.Lys299Asn)	not specified [RCV004327694]	uncertain significance	3	349407	349407	Human		name
401907713	CV2801137	single nucleotide variant	NM_006614.4(CHL1):c.758T>A (p.Leu253Gln)	CHL1-related disorder [RCV003397379]	uncertain significance	3	344619	344619	Human		name , trait , alternate_id
405295342	CV3209543	single nucleotide variant	NM_006614.4(CHL1):c.3564T>C (p.His1188=)	CHL1-related disorder [RCV003937287]	likely benign	3	405600	405600	Human		name , trait , alternate_id
405661753	CV3297078	single nucleotide variant	NM_006614.4(CHL1):c.440A>G (p.Asp147Gly)	not specified [RCV004439275]	uncertain significance	3	340848	340848	Human		name
405661755	CV3297079	single nucleotide variant	NM_006614.4(CHL1):c.596G>A (p.Arg199His)	not specified [RCV004439276]	uncertain significance	3	341999	341999	Human		name
405661758	CV3297080	single nucleotide variant	NM_006614.4(CHL1):c.696C>G (p.Asp232Glu)	not specified [RCV004439277]	uncertain significance	3	343000	343000	Human		name
405661761	CV3297081	single nucleotide variant	NM_006614.4(CHL1):c.740A>G (p.Lys247Arg)	not specified [RCV004439278]	uncertain significance	3	344601	344601	Human		name
405661763	CV3297082	single nucleotide variant	NM_006614.4(CHL1):c.854C>T (p.Thr285Ile)	not specified [RCV004439279]	uncertain significance	3	349364	349364	Human		name
405661766	CV3297083	single nucleotide variant	NM_006614.4(CHL1):c.938T>C (p.Ile313Thr)	not specified [RCV004439280]	uncertain significance	3	349448	349448	Human		name
407455695	CV3422736	single nucleotide variant	NM_006614.4(CHL1):c.535A>G (p.Arg179Gly)	not specified [RCV004610364]	uncertain significance	3	341938	341938	Human		name
408365589	CV3508226	single nucleotide variant	NM_006614.4(CHL1):c.576C>A (p.Asn192Lys)	CHL1-related disorder [RCV004755122]	uncertain significance	3	341979	341979	Human		name , trait , alternate_id
597769537	CV3653135	single nucleotide variant	NM_006614.4(CHL1):c.591C>A (p.Asp197Glu)	not specified [RCV004896755]	uncertain significance	3	341994	341994	Human		name
597769557	CV3653139	single nucleotide variant	NM_006614.4(CHL1):c.478C>A (p.Pro160Thr)	not specified [RCV004896759]	uncertain significance	3	340886	340886	Human		name
597769567	CV3653141	single nucleotide variant	NM_006614.4(CHL1):c.937A>T (p.Ile313Leu)	not specified [RCV004896761]	uncertain significance	3	349447	349447	Human		name
597769572	CV3653142	single nucleotide variant	NM_006614.4(CHL1):c.451C>T (p.Leu151Phe)	not specified [RCV004896762]	uncertain significance	3	340859	340859	Human		name
597769582	CV3653144	single nucleotide variant	NM_006614.4(CHL1):c.326G>T (p.Cys109Phe)	not specified [RCV004896764]	uncertain significance	3	328295	328295	Human		name
598214493	CV3951595	single nucleotide variant	NM_006614.4(CHL1):c.332C>T (p.Ala111Val)	not specified [RCV005316583]	uncertain significance	3	328301	328301	Human		name
598214522	CV3951602	single nucleotide variant	NM_006614.4(CHL1):c.338A>G (p.Asn113Ser)	not specified [RCV005316590]	uncertain significance	3	328307	328307	Human		name
598214537	CV3951605	single nucleotide variant	NM_006614.4(CHL1):c.594T>A (p.Ser198Arg)	not specified [RCV005316593]	uncertain significance	3	341997	341997	Human		name
15158156	CV708795	single nucleotide variant	NM_006614.4(CHL1):c.704C>T (p.Ser235Leu)	CHL1-related disorder [RCV003960811]\|not provided [RCV000969452]	benign	3	343008	343008	Human		name , trait , alternate_id
15151628	CV720410	single nucleotide variant	NM_006614.4(CHL1):c.946G>A (p.Val316Ile)	CHL1-related disorder [RCV003940384]\|not provided [RCV000879636]	benign	3	349456	349456	Human		name , trait , alternate_id
15160567	CV734053	single nucleotide variant	NM_006614.4(CHL1):c.3570C>T (p.Leu1190=)	not provided [RCV000903171]	benign	3	405606	405606	Human		name
15149637	CV748253	single nucleotide variant	NM_006614.4(CHL1):c.3648T>G (p.Ser1216=)	not provided [RCV000923323]	likely benign	3	405684	405684	Human		name
15200248	CV763888	single nucleotide variant	NM_006614.4(CHL1):c.3165G>A (p.Pro1055=)	not provided [RCV000935330]	likely benign	3	398297	398297	Human		name
15100915	CV781674	single nucleotide variant	NM_006614.4(CHL1):c.3012G>A (p.Lys1004=)	not provided [RCV000975487]	likely benign	3	394790	394790	Human		name
127244201	CV1070735	single nucleotide variant	NM_006614.4(CHL1):c.1852G>A (p.Asp618Asn)	not provided [RCV001393677]\|not specified [RCV004037740]	likely benign\|uncertain significance	3	377918	377918	Human		name
127275891	CV1092467	single nucleotide variant	NM_006614.4(CHL1):c.2297C>A (p.Thr766Asn)	not provided [RCV001443545]\|not specified [RCV004038418]	likely benign\|uncertain significance	3	389301	389301	Human		name
127327866	CV1114006	single nucleotide variant	NM_006614.4(CHL1):c.2647A>G (p.Ile883Val)	not provided [RCV001469301]\|not specified [RCV004038682]	likely benign	3	391015	391015	Human		name
156298666	CV2119374	single nucleotide variant	NM_006614.4(CHL1):c.1504G>A (p.Glu502Lys)	not provided [RCV002962038]	likely benign	3	363302	363302	Human		name
156134375	CV2196022	single nucleotide variant	NM_006614.4(CHL1):c.2824A>G (p.Lys942Glu)	not specified [RCV004072265]	uncertain significance	3	391707	391707	Human		name
155988024	CV2234166	single nucleotide variant	NM_006614.4(CHL1):c.1647A>C (p.Glu549Asp)	not specified [RCV004106254]	uncertain significance	3	366011	366011	Human		name
156306088	CV2252692	single nucleotide variant	NM_006614.4(CHL1):c.2204G>T (p.Arg735Met)	not specified [RCV004118550]	uncertain significance	3	383843	383843	Human		name
156176935	CV2258137	single nucleotide variant	NM_006614.4(CHL1):c.2825A>C (p.Lys942Thr)	not specified [RCV004121525]	uncertain significance	3	391708	391708	Human		name
155949017	CV2273598	single nucleotide variant	NM_006614.4(CHL1):c.1559C>T (p.Ala520Val)	not specified [RCV004134117]	uncertain significance	3	363357	363357	Human		name
155996841	CV2277452	single nucleotide variant	NM_006614.4(CHL1):c.1301T>C (p.Val434Ala)	not specified [RCV004144855]	uncertain significance	3	360419	360419	Human		name
155906385	CV2283526	single nucleotide variant	NM_006614.4(CHL1):c.1450G>A (p.Gly484Ser)	not specified [RCV004139738]	uncertain significance	3	363248	363248	Human		name
156083784	CV2289623	single nucleotide variant	NM_006614.4(CHL1):c.1553A>C (p.Lys518Thr)	not specified [RCV004148543]	uncertain significance	3	363351	363351	Human		name
156069503	CV2292773	single nucleotide variant	NM_006614.4(CHL1):c.2982G>C (p.Trp994Cys)	not specified [RCV004154435]	uncertain significance	3	394760	394760	Human		name
155998546	CV2296092	single nucleotide variant	NM_006614.4(CHL1):c.1204A>G (p.Ile402Val)	not specified [RCV004154027]	uncertain significance	3	360322	360322	Human		name
156288122	CV2301308	single nucleotide variant	NM_006614.4(CHL1):c.2077G>A (p.Ala693Thr)	not specified [RCV004160476]	uncertain significance	3	382572	382572	Human		name
155963348	CV2308262	single nucleotide variant	NM_006614.4(CHL1):c.1949C>A (p.Ala650Asp)	not specified [RCV004164757]	uncertain significance	3	382251	382251	Human		name
156100750	CV2313432	single nucleotide variant	NM_006614.4(CHL1):c.2524G>C (p.Val842Leu)	not specified [RCV004163752]	uncertain significance	3	390754	390754	Human		name
156178128	CV2327348	single nucleotide variant	NM_006614.4(CHL1):c.1573T>G (p.Leu525Val)	not specified [RCV004174782]	uncertain significance	3	363371	363371	Human		name
156277844	CV2328347	single nucleotide variant	NM_006614.4(CHL1):c.1837C>G (p.Leu613Val)	not specified [RCV004175463]	uncertain significance	3	377903	377903	Human		name
155980845	CV2343654	single nucleotide variant	NM_006614.4(CHL1):c.1217A>G (p.Asn406Ser)	not specified [RCV004190682]	uncertain significance	3	360335	360335	Human		name
156102056	CV2367731	single nucleotide variant	NM_006614.4(CHL1):c.2858G>A (p.Gly953Glu)	not specified [RCV004213692]	uncertain significance	3	391741	391741	Human		name
155998009	CV2373241	single nucleotide variant	NM_006614.4(CHL1):c.2000G>T (p.Gly667Val)	not specified [RCV004217911]	uncertain significance	3	382495	382495	Human		name
156166135	CV2373563	single nucleotide variant	NM_006614.4(CHL1):c.1156C>A (p.Pro386Thr)	not specified [RCV004222663]	uncertain significance	3	354762	354762	Human		name
156094752	CV2377801	single nucleotide variant	NM_006614.4(CHL1):c.1808G>C (p.Gly603Ala)	not specified [RCV004230381]	uncertain significance	3	377874	377874	Human		name
156185076	CV2377802	single nucleotide variant	NM_006614.4(CHL1):c.2569C>T (p.Arg857Cys)	not specified [RCV004230382]	uncertain significance	3	390799	390799	Human		name
155903600	CV2386561	single nucleotide variant	NM_006614.4(CHL1):c.2387C>G (p.Pro796Arg)	not specified [RCV004230912]	uncertain significance	3	389391	389391	Human		name
329377392	CV2435905	single nucleotide variant	NM_006614.4(CHL1):c.2666A>G (p.Gln889Arg)	not specified [RCV004255134]	uncertain significance	3	391034	391034	Human		name
329352179	CV2452178	single nucleotide variant	NM_006614.4(CHL1):c.2414A>G (p.Asn805Ser)	not specified [RCV004278889]	uncertain significance	3	389418	389418	Human		name
329360848	CV2463046	single nucleotide variant	NM_006614.4(CHL1):c.1357G>C (p.Val453Leu)	not specified [RCV004272861]	uncertain significance	3	361749	361749	Human		name
329363367	CV2465068	single nucleotide variant	NM_006614.4(CHL1):c.1085G>T (p.Ser362Ile)	not specified [RCV004286798]	uncertain significance	3	354691	354691	Human		name
401770443	CV2678676	single nucleotide variant	NM_006614.4(CHL1):c.1051A>G (p.Lys351Glu)	not specified [RCV004294713]	uncertain significance	3	354657	354657	Human		name
401761312	CV2689104	single nucleotide variant	NM_006614.4(CHL1):c.1315C>G (p.Pro439Ala)	not specified [RCV004305868]	uncertain significance	3	361707	361707	Human		name
401760566	CV2695086	single nucleotide variant	NM_006614.4(CHL1):c.1600A>G (p.Arg534Gly)	not specified [RCV004303244]	uncertain significance	3	365964	365964	Human		name
401744965	CV2698436	single nucleotide variant	NM_006614.4(CHL1):c.2965C>G (p.Pro989Ala)	not specified [RCV004298949]	uncertain significance	3	394743	394743	Human		name
401738057	CV2700926	single nucleotide variant	NM_006614.4(CHL1):c.2779A>G (p.Thr927Ala)	not specified [RCV004307191]	uncertain significance	3	391147	391147	Human		name
401759735	CV2705700	single nucleotide variant	NM_006614.4(CHL1):c.1940C>T (p.Thr647Ile)	not specified [RCV004318553]	uncertain significance	3	382242	382242	Human		name
401760123	CV2709615	single nucleotide variant	NM_006614.4(CHL1):c.2113G>A (p.Val705Met)	not specified [RCV004318840]	uncertain significance	3	382608	382608	Human		name
401780559	CV2716836	single nucleotide variant	NM_006614.4(CHL1):c.1234A>T (p.Thr412Ser)	not specified [RCV004329649]	uncertain significance	3	360352	360352	Human		name
401763867	CV2717147	single nucleotide variant	NM_006614.4(CHL1):c.2404C>A (p.Gln802Lys)	not specified [RCV004324020]	uncertain significance	3	389408	389408	Human		name
401772718	CV2719738	single nucleotide variant	NM_006614.4(CHL1):c.1606T>G (p.Ser536Ala)	not specified [RCV004329176]	uncertain significance	3	365970	365970	Human		name
401865692	CV2755600	single nucleotide variant	NM_006614.4(CHL1):c.1351A>G (p.Thr451Ala)	not specified [RCV004340171]	likely benign	3	361743	361743	Human		name
401858759	CV2774414	single nucleotide variant	NM_006614.4(CHL1):c.2686C>T (p.Pro896Ser)	not specified [RCV004347753]	uncertain significance	3	391054	391054	Human		name
401872136	CV2792990	single nucleotide variant	NM_006614.4(CHL1):c.1963A>G (p.Asn655Asp)	not specified [RCV004360329]	uncertain significance	3	382265	382265	Human		name
401872138	CV2792991	single nucleotide variant	NM_006614.4(CHL1):c.1964A>C (p.Asn655Thr)	not specified [RCV004360330]	uncertain significance	3	382266	382266	Human		name
405661679	CV3297053	single nucleotide variant	NM_006614.4(CHL1):c.1006A>C (p.Thr336Pro)	not specified [RCV004439250]	uncertain significance	3	349516	349516	Human		name
405661682	CV3297054	single nucleotide variant	NM_006614.4(CHL1):c.1007C>T (p.Thr336Ile)	not specified [RCV004439251]	uncertain significance	3	349517	349517	Human		name
405661686	CV3297055	single nucleotide variant	NM_006614.4(CHL1):c.1320G>T (p.Leu440Phe)	not specified [RCV004439252]	uncertain significance	3	361712	361712	Human		name
405661689	CV3297056	single nucleotide variant	NM_006614.4(CHL1):c.1425G>T (p.Lys475Asn)	not specified [RCV004439253]	uncertain significance	3	363223	363223	Human		name
405661692	CV3297057	single nucleotide variant	NM_006614.4(CHL1):c.1462C>T (p.His488Tyr)	not specified [RCV004439254]	uncertain significance	3	363260	363260	Human		name
405661695	CV3297058	single nucleotide variant	NM_006614.4(CHL1):c.1738A>G (p.Thr580Ala)	not specified [RCV004439255]	uncertain significance	3	366102	366102	Human		name
405661698	CV3297059	single nucleotide variant	NM_006614.4(CHL1):c.1743A>T (p.Glu581Asp)	not specified [RCV004439256]	uncertain significance	3	366107	366107	Human		name
405661701	CV3297060	single nucleotide variant	NM_006614.4(CHL1):c.1829A>C (p.His610Pro)	not specified [RCV004439257]	uncertain significance	3	377895	377895	Human		name
405661704	CV3297061	single nucleotide variant	NM_006614.4(CHL1):c.1894G>A (p.Glu632Lys)	not specified [RCV004439258]	uncertain significance	3	382196	382196	Human		name
405661707	CV3297062	single nucleotide variant	NM_006614.4(CHL1):c.1960C>T (p.His654Tyr)	not specified [RCV004439259]	uncertain significance	3	382262	382262	Human		name
405661713	CV3297063	single nucleotide variant	NM_006614.4(CHL1):c.1973T>C (p.Ile658Thr)	not specified [RCV004439260]	uncertain significance	3	382275	382275	Human		name
405661716	CV3297064	single nucleotide variant	NM_006614.4(CHL1):c.2167C>T (p.Pro723Ser)	not specified [RCV004439261]	uncertain significance	3	382662	382662	Human		name
405661719	CV3297065	single nucleotide variant	NM_006614.4(CHL1):c.2631T>G (p.His877Gln)	not specified [RCV004439262]	uncertain significance	3	390999	390999	Human		name
405661725	CV3297067	single nucleotide variant	NM_006614.4(CHL1):c.2800C>G (p.Gln934Glu)	not specified [RCV004439264]	uncertain significance	3	391683	391683	Human		name
405661728	CV3297068	single nucleotide variant	NM_006614.4(CHL1):c.2831A>G (p.Asp944Gly)	not specified [RCV004439265]	uncertain significance	3	391714	391714	Human		name
405661731	CV3297069	single nucleotide variant	NM_006614.4(CHL1):c.2839A>G (p.Thr947Ala)	not specified [RCV004439266]	uncertain significance	3	391722	391722	Human		name
407455545	CV3422728	single nucleotide variant	NM_006614.4(CHL1):c.1957G>T (p.Asp653Tyr)	not specified [RCV004610356]	uncertain significance	3	382259	382259	Human		name
407455547	CV3422729	single nucleotide variant	NM_006614.4(CHL1):c.1750A>T (p.Arg584Trp)	not specified [RCV004610357]	uncertain significance	3	366114	366114	Human		name
407455550	CV3422730	single nucleotide variant	NM_006614.4(CHL1):c.1456C>T (p.Arg486Trp)	not specified [RCV004610358]	uncertain significance	3	363254	363254	Human		name
407455552	CV3422731	single nucleotide variant	NM_006614.4(CHL1):c.2119G>A (p.Glu707Lys)	not specified [RCV004610359]	uncertain significance	3	382614	382614	Human		name
407455703	CV3422733	single nucleotide variant	NM_006614.4(CHL1):c.1786A>G (p.Asn596Asp)	not specified [RCV004610361]	uncertain significance	3	377852	377852	Human		name
407455700	CV3422734	single nucleotide variant	NM_006614.4(CHL1):c.2018G>A (p.Gly673Glu)	not specified [RCV004610362]	uncertain significance	3	382513	382513	Human		name
407455698	CV3422735	single nucleotide variant	NM_006614.4(CHL1):c.1631A>G (p.Lys544Arg)	not specified [RCV004610363]	likely benign	3	365995	365995	Human		name
407455690	CV3422738	single nucleotide variant	NM_006614.4(CHL1):c.1043G>A (p.Arg348His)	not specified [RCV004610366]	uncertain significance	3	354649	354649	Human		name
407455687	CV3422739	single nucleotide variant	NM_006614.4(CHL1):c.1481C>T (p.Thr494Ile)	not specified [RCV004610367]	uncertain significance	3	363279	363279	Human		name
407455682	CV3422741	single nucleotide variant	NM_006614.4(CHL1):c.1283C>T (p.Ala428Val)	not specified [RCV004610369]	uncertain significance	3	360401	360401	Human		name
597769479	CV3653124	single nucleotide variant	NM_006614.4(CHL1):c.1412T>C (p.Val471Ala)	not specified [RCV004896744]	uncertain significance	3	361804	361804	Human		name
597769490	CV3653126	single nucleotide variant	NM_006614.4(CHL1):c.2641G>T (p.Val881Leu)	not specified [RCV004896746]	uncertain significance	3	391009	391009	Human		name
597769500	CV3653128	single nucleotide variant	NM_006614.4(CHL1):c.1282G>A (p.Ala428Thr)	not specified [RCV004896748]	uncertain significance	3	360400	360400	Human		name
597769505	CV3653129	single nucleotide variant	NM_006614.4(CHL1):c.2591A>G (p.Asn864Ser)	not specified [RCV004896749]	uncertain significance	3	390959	390959	Human		name
597769510	CV3653130	single nucleotide variant	NM_006614.4(CHL1):c.1695G>T (p.Lys565Asn)	not specified [RCV004896750]	uncertain significance	3	366059	366059	Human		name
597769514	CV3653131	single nucleotide variant	NM_006614.4(CHL1):c.1640T>C (p.Met547Thr)	not specified [RCV004896751]	likely benign	3	366004	366004	Human		name
597769547	CV3653137	single nucleotide variant	NM_006614.4(CHL1):c.1031A>C (p.Glu344Ala)	not specified [RCV004896757]	uncertain significance	3	349541	349541	Human		name
597769552	CV3653138	single nucleotide variant	NM_006614.4(CHL1):c.1952G>T (p.Gly651Val)	not specified [RCV004896758]	uncertain significance	3	382254	382254	Human		name
597769562	CV3653140	single nucleotide variant	NM_006614.4(CHL1):c.2491A>G (p.Ile831Val)	not specified [RCV004896760]	uncertain significance	3	390721	390721	Human		name
12848330	CV367396	single nucleotide variant	NM_006614.4(CHL1):c.1241T>C (p.Val414Ala)	CHL1-related disorder [RCV003902491]\|not specified [RCV000445095]	likely benign	3	360359	360359	Human		name , trait , alternate_id
598214498	CV3951596	single nucleotide variant	NM_006614.4(CHL1):c.2960C>G (p.Thr987Arg)	not specified [RCV005316584]	uncertain significance	3	394738	394738	Human		name
598214503	CV3951597	single nucleotide variant	NM_006614.4(CHL1):c.2303A>G (p.Lys768Arg)	not specified [RCV005316585]	uncertain significance	3	389307	389307	Human		name
598214511	CV3951599	single nucleotide variant	NM_006614.4(CHL1):c.2359C>T (p.Arg787Trp)	not specified [RCV005316587]	uncertain significance	3	389363	389363	Human		name
598214515	CV3951600	single nucleotide variant	NM_006614.4(CHL1):c.1025T>C (p.Ile342Thr)	not specified [RCV005316588]	likely benign	3	349535	349535	Human		name
598214525	CV3951603	single nucleotide variant	NM_006614.4(CHL1):c.2573T>C (p.Leu858Pro)	not specified [RCV005316591]	uncertain significance	3	390803	390803	Human		name
598214530	CV3951604	single nucleotide variant	NM_006614.4(CHL1):c.2323G>C (p.Glu775Gln)	not specified [RCV005316592]	uncertain significance	3	389327	389327	Human		name
598214544	CV3951606	single nucleotide variant	NM_006614.4(CHL1):c.1105G>A (p.Glu369Lys)	not specified [RCV005316594]	uncertain significance	3	354711	354711	Human		name
598214555	CV3951608	single nucleotide variant	NM_006614.4(CHL1):c.1067C>T (p.Ala356Val)	not specified [RCV005316596]	uncertain significance	3	354673	354673	Human		name
15171608	CV708796	single nucleotide variant	NM_006614.4(CHL1):c.1501A>G (p.Thr501Ala)	CHL1-related disorder [RCV003906037]\|not provided [RCV000972233]	benign\|likely benign	3	363299	363299	Human		name , trait , alternate_id
15167875	CV708828	single nucleotide variant	NM_006614.4(CHL1):c.2278G>C (p.Gly760Arg)	CHL1-related disorder [RCV003906017]\|not provided [RCV000971492]	benign	3	389282	389282	Human		name , trait , alternate_id
15176161	CV708845	single nucleotide variant	NM_006614.4(CHL1):c.2923A>T (p.Thr975Ser)	not provided [RCV000973123]	benign\|likely benign	3	394701	394701	Human		name
15166191	CV720416	single nucleotide variant	NM_006614.4(CHL1):c.1797A>T (p.Leu599Phe)	CHL1-related disorder [RCV003975550]\|not provided [RCV000882576]	likely benign	3	377863	377863	Human		name , trait , alternate_id
15112112	CV748215	single nucleotide variant	NM_006614.4(CHL1):c.1706G>A (p.Ser569Asn)	CHL1-related disorder [RCV003923243]\|not provided [RCV000916855]	likely benign	3	366070	366070	Human		name , trait , alternate_id
8625619	CV80743	single nucleotide variant	NM_006614.3(CHL1):c.2232G>A (p.Met744Ile)	Malignant melanoma [RCV000060820]	not provided	3	383871	383871	Human		name
8625620	CV80744	single nucleotide variant	NM_006614.4(CHL1):c.2690C>T (p.Ser897Phe)	not specified [RCV004230913]	uncertain significance\|not provided	3	391058	391058	Human		name
8625621	CV80745	single nucleotide variant	NM_006614.3(CHL1):c.2713C>T (p.His905Tyr)	Malignant melanoma [RCV000060822]	not provided	3	391081	391081	Human		name
8630824	CV85979	single nucleotide variant	NM_006614.3(CHL1):c.2329G>A (p.Glu777Lys)	Malignant melanoma [RCV000066063]	not provided	3	389333	389333	Human		name
127251491	CV1092469	single nucleotide variant	NM_006614.4(CHL1):c.3167G>C (p.Gly1056Ala)	not provided [RCV001425608]	likely benign	3	398299	398299	Human		name
127337262	CV1114007	single nucleotide variant	NM_006614.4(CHL1):c.3314C>T (p.Ala1105Val)	not provided [RCV001475542]	likely benign	3	399077	399077	Human		name
156379735	CV2117879	single nucleotide variant	NM_006614.4(CHL1):c.3153G>C (p.Glu1051Asp)	CHL1-related disorder [RCV003926582]\|not provided [RCV002943047]	likely benign	3	398285	398285	Human	1	name , trait , alternate_id
156379735	CV2117879	single nucleotide variant	NM_006614.4(CHL1):c.3153G>C (p.Glu1051Asp)	CHL1-related disorder [RCV003926582]\|not provided [RCV002943047]	likely benign	3	398285	398286	Human	1	name , trait , alternate_id
155917722	CV2199093	single nucleotide variant	NM_006614.4(CHL1):c.3373G>A (p.Gly1125Arg)	not specified [RCV004080493]	uncertain significance	3	399136	399136	Human		name
155965985	CV2206649	single nucleotide variant	NM_006614.4(CHL1):c.3529G>A (p.Ala1177Thr)	not specified [RCV004080987]	uncertain significance	3	405565	405565	Human		name
156250472	CV2311222	single nucleotide variant	NM_006614.4(CHL1):c.3478C>A (p.Leu1160Ile)	not specified [RCV004166309]	uncertain significance	3	405514	405514	Human		name
156327437	CV2332106	single nucleotide variant	NM_006614.4(CHL1):c.3604G>A (p.Ala1202Thr)	not specified [RCV004189147]	uncertain significance	3	405640	405640	Human		name
329379130	CV2443309	single nucleotide variant	NM_006614.4(CHL1):c.3602A>C (p.Tyr1201Ser)	not specified [RCV004260110]	uncertain significance	3	405638	405638	Human		name
401742791	CV2697865	single nucleotide variant	NM_006614.4(CHL1):c.3131C>T (p.Thr1044Ile)	not specified [RCV004300577]	uncertain significance	3	398263	398263	Human		name
401883776	CV2785762	single nucleotide variant	NM_006614.4(CHL1):c.3259G>T (p.Ala1087Ser)	not specified [RCV004365013]	uncertain significance	3	399022	399022	Human		name
405279609	CV3217609	single nucleotide variant	NM_006614.4(CHL1):c.3104T>C (p.Ile1035Thr)	CHL1-related disorder [RCV003976983]	likely benign	3	398236	398236	Human		name , trait , alternate_id
405661733	CV3297070	single nucleotide variant	NM_006614.4(CHL1):c.3079A>G (p.Thr1027Ala)	not specified [RCV004439267]	uncertain significance	3	394857	394857	Human		name
405661738	CV3297072	single nucleotide variant	NM_006614.4(CHL1):c.3106G>A (p.Gly1036Arg)	not specified [RCV004439269]	uncertain significance	3	398238	398238	Human		name
405661741	CV3297073	single nucleotide variant	NM_006614.4(CHL1):c.3368G>C (p.Arg1123Thr)	not specified [RCV004439270]	uncertain significance	3	399131	399131	Human		name
405661744	CV3297074	single nucleotide variant	NM_006614.4(CHL1):c.3494G>A (p.Arg1165Gln)	not specified [RCV004439271]	uncertain significance	3	405530	405530	Human		name
405661749	CV3297076	single nucleotide variant	NM_006614.4(CHL1):c.3662C>G (p.Pro1221Arg)	not specified [RCV004439273]	uncertain significance	3	405698	405698	Human		name
405661750	CV3297077	single nucleotide variant	NM_006614.4(CHL1):c.3668G>A (p.Arg1223Gln)	not specified [RCV004439274]	uncertain significance	3	405704	405704	Human		name
407455539	CV3422726	single nucleotide variant	NM_006614.4(CHL1):c.3185G>T (p.Arg1062Leu)	not specified [RCV004610354]	uncertain significance	3	398317	398317	Human		name
407455692	CV3422737	single nucleotide variant	NM_006614.4(CHL1):c.3268T>C (p.Tyr1090His)	not specified [RCV004610365]	uncertain significance	3	399031	399031	Human		name
407455685	CV3422740	single nucleotide variant	NM_006614.4(CHL1):c.3562C>G (p.His1188Asp)	not specified [RCV004610368]	uncertain significance	3	405598	405598	Human		name
597769467	CV3653122	single nucleotide variant	NM_006614.4(CHL1):c.3476C>T (p.Pro1159Leu)	not specified [RCV004896742]	uncertain significance	3	405512	405512	Human		name
597769519	CV3653132	single nucleotide variant	NM_006614.4(CHL1):c.3451G>A (p.Glu1151Lys)	not specified [RCV004896752]	uncertain significance	3	401691	401691	Human		name
597769527	CV3653133	single nucleotide variant	NM_006614.4(CHL1):c.3518C>T (p.Pro1173Leu)	not specified [RCV004896753]	uncertain significance	3	405554	405554	Human		name
597769542	CV3653136	single nucleotide variant	NM_006614.4(CHL1):c.3065C>T (p.Thr1022Met)	not specified [RCV004896756]	uncertain significance	3	394843	394843	Human		name
597769577	CV3653143	single nucleotide variant	NM_006614.4(CHL1):c.3650C>T (p.Thr1217Ile)	not specified [RCV004896763]	uncertain significance	3	405686	405686	Human		name
598214507	CV3951598	single nucleotide variant	NM_006614.4(CHL1):c.3088G>C (p.Glu1030Gln)	not specified [RCV005316586]	uncertain significance	3	394866	394866	Human		name
598214518	CV3951601	single nucleotide variant	NM_006614.4(CHL1):c.3304C>G (p.Leu1102Val)	not specified [RCV005316589]	uncertain significance	3	399067	399067	Human		name
598214550	CV3951607	single nucleotide variant	NM_006614.4(CHL1):c.3250A>G (p.Arg1084Gly)	not specified [RCV005316595]	uncertain significance	3	398382	398382	Human		name
8625622	CV80746	single nucleotide variant	NM_006614.3(CHL1):c.3493C>T (p.Arg1165Trp)	Malignant melanoma [RCV000060823]	not provided	3	405529	405529	Human		name

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