Chkb Variant Search Result - Rat Genome Database

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412 records found for search term Chkb

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
11630786	CV348181	single nucleotide variant	NM_005198.5(CHKB):c.*96G>C	Megaconial type congenital muscular dystrophy [RCV000358636]\|not provided [RCV001576804]	benign\|likely benign	22	50579085	50579085	Human	1	name , alternate_id
11632272	CV351851	single nucleotide variant	NM_005198.5(CHKB):c.-27G>A	Megaconial type congenital muscular dystrophy [RCV000402605]\|not specified [RCV000431930]	benign\|uncertain significance	22	50582808	50582808	Human	1	name , alternate_id
11658965	CV351853	single nucleotide variant	NM_005198.4(CHKB):c.-94G>A	Megaconial type congenital muscular dystrophy [RCV000353331]	uncertain significance	22	50582875	50582875	Human	1	name , alternate_id
11632350	CV351855	single nucleotide variant	NM_005198.4(CHKB):c.-97G>C	Megaconial type congenital muscular dystrophy [RCV000404822]\|not provided [RCV001555718]	benign\|likely benign\|uncertain significance	22	50582878	50582878	Human	1	name , alternate_id
11630059	CV352689	single nucleotide variant	NM_005198.5(CHKB):c.-19G>T	Megaconial type congenital muscular dystrophy [RCV000340360]\|not specified [RCV000431707]	benign\|uncertain significance	22	50582800	50582800	Human	1	name , alternate_id
11628605	CV352690	single nucleotide variant	NM_005198.5(CHKB):c.-48G>T	Megaconial type congenital muscular dystrophy [RCV000305493]\|not provided [RCV001718725]	benign\|likely benign\|uncertain significance	22	50582829	50582829	Human	1	name , alternate_id
28883633	CV891513	single nucleotide variant	NM_005198.5(CHKB):c.-13T>C	Megaconial type congenital muscular dystrophy [RCV001150316]	uncertain significance	22	50582794	50582794	Human	1	name , alternate_id
11617741	CV338604	single nucleotide variant	NM_005198.5(CHKB):c.*216C>G	Megaconial type congenital muscular dystrophy [RCV000307267]\|not provided [RCV001653657]	benign\|likely benign	22	50578965	50578965	Human	1	name , alternate_id
11630298	CV348178	single nucleotide variant	NM_005198.5(CHKB):c.*208T>G	Megaconial type congenital muscular dystrophy [RCV000345828]\|not provided [RCV004694692]	uncertain significance	22	50578973	50578973	Human	1	name , alternate_id
11632299	CV352686	single nucleotide variant	NM_005198.5(CHKB):c.*134T>C	Megaconial type congenital muscular dystrophy [RCV000403648]\|not provided [RCV001683365]	benign\|likely benign	22	50579047	50579047	Human	1	name , alternate_id
11628851	CV352687	single nucleotide variant	NM_005198.5(CHKB):c.*126C>T	Megaconial type congenital muscular dystrophy [RCV000310326]	uncertain significance	22	50579055	50579055	Human	1	name , alternate_id
14733329	CV669720	single nucleotide variant	NM_005198.4(CHKB):c.-269C>T	not provided [RCV000837049]	benign	22	50583050	50583050	Human		name
14707488	CV669723	single nucleotide variant	NM_005198.4(CHKB):c.-369T>G	not provided [RCV000826860]	benign	22	50583150	50583150	Human		name
14707485	CV669726	single nucleotide variant	NM_005198.4(CHKB):c.-389G>A	not provided [RCV000826859]	benign	22	50583170	50583170	Human		name
14720009	CV670934	single nucleotide variant	NM_005198.4(CHKB):c.-553C>G	not provided [RCV000831030]	benign	22	50583334	50583334	Human		name
126749075	CV1014678	single nucleotide variant	NM_005198.5(CHKB):c.737-6C>T	Megaconial type congenital muscular dystrophy [RCV001326461]	likely benign\|uncertain significance	22	50580277	50580277	Human	1	name , alternate_id
127296229	CV1129252	single nucleotide variant	NM_005198.5(CHKB):c.927+8G>A	Megaconial type congenital muscular dystrophy [RCV001459927]	likely benign	22	50579966	50579966	Human	1	name , alternate_id
150338693	CV1174414	single nucleotide variant	NM_005198.5(CHKB):c.737-1G>C	Megaconial type congenital muscular dystrophy [RCV001542808]	pathogenic	22	50580272	50580272	Human	1	name , alternate_id
151852686	CV1376118	single nucleotide variant	NM_005198.5(CHKB):c.677+3G>A	Megaconial type congenital muscular dystrophy [RCV001996165]	uncertain significance	22	50580562	50580562	Human	1	name , alternate_id
152076016	CV1542702	single nucleotide variant	NM_005198.5(CHKB):c.928-4G>A	Megaconial type congenital muscular dystrophy [RCV002130228]	likely benign	22	50579834	50579834	Human	1	name , alternate_id
152170321	CV1651027	single nucleotide variant	NM_005198.5(CHKB):c.819-9T>C	Megaconial type congenital muscular dystrophy [RCV002143081]	likely benign	22	50580091	50580091	Human	1	name , alternate_id
156397448	CV1871102	single nucleotide variant	NM_005198.5(CHKB):c.447+9C>G	Megaconial type congenital muscular dystrophy [RCV003068788]	likely benign	22	50581740	50581740	Human	1	name , alternate_id
156407034	CV1878597	single nucleotide variant	NM_005198.5(CHKB):c.928-7A>T	Megaconial type congenital muscular dystrophy [RCV003070701]	likely benign\|uncertain significance	22	50579837	50579837	Human	1	name , alternate_id
156338776	CV1902465	single nucleotide variant	NM_005198.5(CHKB):c.677+1G>C	Megaconial type congenital muscular dystrophy [RCV003090230]	pathogenic	22	50580564	50580564	Human	1	name , alternate_id
156416131	CV1983993	single nucleotide variant	NM_005198.5(CHKB):c.582-7G>T	Megaconial type congenital muscular dystrophy [RCV002610010]	likely benign	22	50580667	50580667	Human	1	name , alternate_id
156112611	CV1993695	single nucleotide variant	NM_005198.5(CHKB):c.819-5C>T	Megaconial type congenital muscular dystrophy [RCV002662548]	likely benign	22	50580087	50580087	Human	1	name , alternate_id
156229628	CV2043400	single nucleotide variant	NM_005198.5(CHKB):c.678-6C>T	Megaconial type congenital muscular dystrophy [RCV002805264]	likely benign	22	50580422	50580422	Human	1	name , alternate_id
156095413	CV2110471	single nucleotide variant	NM_005198.5(CHKB):c.581+7C>G	Megaconial type congenital muscular dystrophy [RCV002926839]	likely benign	22	50581413	50581413	Human	1	name , alternate_id
156019555	CV2141143	single nucleotide variant	NM_005198.5(CHKB):c.819-8T>G	Megaconial type congenital muscular dystrophy [RCV002976085]	likely benign	22	50580090	50580090	Human	1	name , alternate_id
156435669	CV2402955	single nucleotide variant	NM_005198.5(CHKB):c.678-1G>C	Megaconial type congenital muscular dystrophy [RCV003126383]	likely pathogenic	22	50580417	50580417	Human	1	name , alternate_id
401902405	CV2801859	single nucleotide variant	NM_005198.5(CHKB):c.447+4C>T	CHKB-related disorder [RCV003418871]	uncertain significance	22	50581745	50581745	Human		name , trait , alternate_id
405002408	CV2922153	single nucleotide variant	NM_005198.5(CHKB):c.927+9G>C	Megaconial type congenital muscular dystrophy [RCV003526451]	likely benign	22	50579965	50579965	Human	1	name , alternate_id
405189150	CV3019489	single nucleotide variant	NM_005198.5(CHKB):c.224+1G>A	Megaconial type congenital muscular dystrophy [RCV003640599]	pathogenic	22	50582557	50582557	Human	1	name , alternate_id
405189662	CV3031137	single nucleotide variant	NM_005198.5(CHKB):c.818+7C>T	Megaconial type congenital muscular dystrophy [RCV003640660]	likely benign	22	50580183	50580183	Human	1	name , alternate_id
405190191	CV3041579	single nucleotide variant	NM_005198.5(CHKB):c.737-5C>T	Megaconial type congenital muscular dystrophy [RCV003640750]	likely benign	22	50580276	50580276	Human	1	name , alternate_id
597959497	CV3752327	single nucleotide variant	NM_005198.5(CHKB):c.447+8C>G	Megaconial type congenital muscular dystrophy [RCV005081277]	likely benign	22	50581741	50581741	Human	1	name , alternate_id
597897883	CV3782454	single nucleotide variant	NM_005198.5(CHKB):c.927+9G>T	Megaconial type congenital muscular dystrophy [RCV005126679]	likely benign	22	50579965	50579965	Human	1	name , alternate_id
597940034	CV3785264	single nucleotide variant	NM_005198.5(CHKB):c.678-2A>T	Megaconial type congenital muscular dystrophy [RCV005133369]	likely pathogenic	22	50580418	50580418	Human	1	name , alternate_id
12838520	CV379872	single nucleotide variant	NM_005198.5(CHKB):c.737-7C>T	Megaconial type congenital muscular dystrophy [RCV000875320]\|not provided [RCV001703851]	benign\|likely benign	22	50580278	50580278	Human	1	name , alternate_id
12844643	CV379874	single nucleotide variant	NM_005198.5(CHKB):c.581+8A>T	Megaconial type congenital muscular dystrophy [RCV002063576]\|not specified [RCV000438353]	likely benign	22	50581412	50581412	Human	1	name , alternate_id
8568697	CV39913	single nucleotide variant	NM_005198.5(CHKB):c.677+1G>A	Megaconial type congenital muscular dystrophy [RCV000023946]	pathogenic	22	50580564	50580564	Human	1	name , alternate_id
12893921	CV411046	single nucleotide variant	NM_005198.5(CHKB):c.224+5G>C	Inborn genetic diseases [RCV004975567]\|Megaconial type congenital muscular dystrophy [RCV001245358]\|not provided [RCV000480811]	likely pathogenic\|uncertain significance	22	50582553	50582553	Human	2	name , alternate_id
12914053	CV422384	single nucleotide variant	NM_005198.5(CHKB):c.736+2T>C	not provided [RCV000494588]	likely pathogenic	22	50580356	50580356	Human		name
15180408	CV778493	single nucleotide variant	NM_005198.5(CHKB):c.928-5C>T	Megaconial type congenital muscular dystrophy [RCV001411275]	likely benign	22	50579835	50579835	Human	1	name , alternate_id
26901126	CV852447	single nucleotide variant	NM_005198.5(CHKB):c.447+5G>C	Megaconial type congenital muscular dystrophy [RCV001055928]	uncertain significance	22	50581744	50581744	Human	1	name , alternate_id
127281936	CV1107860	single nucleotide variant	NM_005198.5(CHKB):c.1031+8A>C	Megaconial type congenital muscular dystrophy [RCV001447502]	likely benign	22	50579719	50579719	Human	1	name , alternate_id
150424362	CV1185714	single nucleotide variant	NM_005198.5(CHKB):c.582-49G>A	not provided [RCV001556562]	likely benign	22	50580709	50580709	Human		name
150488940	CV1284127	single nucleotide variant	NM_005198.5(CHKB):c.818+40T>C	not provided [RCV001716186]	benign	22	50580150	50580150	Human		name
150442776	CV1287780	single nucleotide variant	NM_005198.5(CHKB):c.819-53C>T	not provided [RCV001725501]	benign	22	50580135	50580135	Human		name
8659266	CV134178	single nucleotide variant	NM_005198.5(CHKB):c.333+10G>T	Megaconial type congenital muscular dystrophy [RCV000288849]\|not provided [RCV004713279]\|not specified [RCV000116702]	benign\|likely benign\|conflicting interpretations of pathogenicity	22	50582239	50582239	Human	1	name , alternate_id
151862481	CV1365091	single nucleotide variant	NM_005198.5(CHKB):c.928-11A>G	Megaconial type congenital muscular dystrophy [RCV002017925]	likely benign	22	50579841	50579841	Human	1	name , alternate_id
151779031	CV1493448	single nucleotide variant	NM_005198.5(CHKB):c.1113+4A>T	Megaconial type congenital muscular dystrophy [RCV001915704]	uncertain significance	22	50579422	50579422	Human	1	name , alternate_id
152108074	CV1529933	single nucleotide variant	NM_005198.5(CHKB):c.737-14C>T	Megaconial type congenital muscular dystrophy [RCV002196414]	likely benign	22	50580285	50580285	Human	1	name , alternate_id
152060877	CV1540893	single nucleotide variant	NM_005198.5(CHKB):c.928-20C>A	Megaconial type congenital muscular dystrophy [RCV002190507]	likely benign	22	50579850	50579850	Human	1	name , alternate_id
152148776	CV1551965	single nucleotide variant	NM_005198.5(CHKB):c.819-18T>G	Megaconial type congenital muscular dystrophy [RCV002157848]	likely benign	22	50580100	50580100	Human	1	name , alternate_id
152163015	CV1593451	single nucleotide variant	NM_005198.5(CHKB):c.928-16T>C	Megaconial type congenital muscular dystrophy [RCV002104156]	likely benign	22	50579846	50579846	Human	1	name , alternate_id
152097448	CV1597640	single nucleotide variant	NM_005198.5(CHKB):c.333+17C>T	Megaconial type congenital muscular dystrophy [RCV002114878]	likely benign	22	50582232	50582232	Human	1	name , alternate_id
152162617	CV1606347	single nucleotide variant	NM_005198.5(CHKB):c.677+16A>G	Megaconial type congenital muscular dystrophy [RCV002181191]	likely benign	22	50580549	50580549	Human	1	name , alternate_id
152116384	CV1643139	single nucleotide variant	NM_005198.5(CHKB):c.928-19T>A	Megaconial type congenital muscular dystrophy [RCV002216189]	likely benign	22	50579849	50579849	Human	1	name , alternate_id
156062921	CV1888624	deletion	NM_005198.5(CHKB):c.677+11del	Megaconial type congenital muscular dystrophy [RCV003079289]	likely benign	22	50580554	50580554	Human	1	name , alternate_id
156158977	CV1954688	single nucleotide variant	NM_005198.5(CHKB):c.818+20T>A	Megaconial type congenital muscular dystrophy [RCV002573154]	likely benign	22	50580170	50580170	Human	1	name , alternate_id
156006811	CV1984613	single nucleotide variant	NM_005198.5(CHKB):c.334-12A>G	Megaconial type congenital muscular dystrophy [RCV002618707]	likely benign	22	50581874	50581874	Human	1	name , alternate_id
156013164	CV2046202	duplication	NM_005198.5(CHKB):c.737-15dup	Megaconial type congenital muscular dystrophy [RCV002795211]	likely benign	22	50580285	50580286	Human	1	name , alternate_id
156148588	CV2052843	single nucleotide variant	NM_005198.5(CHKB):c.334-11T>C	Megaconial type congenital muscular dystrophy [RCV002801217]	likely benign	22	50581873	50581873	Human	1	name , alternate_id
156154429	CV2100449	single nucleotide variant	NM_005198.5(CHKB):c.818+19C>T	Megaconial type congenital muscular dystrophy [RCV002872433]	likely benign	22	50580171	50580171	Human	1	name , alternate_id
156310579	CV2111292	single nucleotide variant	NM_005198.5(CHKB):c.582-13C>T	Megaconial type congenital muscular dystrophy [RCV002937139]	likely benign	22	50580673	50580673	Human	1	name , alternate_id
156116711	CV2113887	single nucleotide variant	NM_005198.5(CHKB):c.224+20C>G	Megaconial type congenital muscular dystrophy [RCV002913998]	likely benign	22	50582538	50582538	Human	1	name , alternate_id
155936294	CV2114190	single nucleotide variant	NM_005198.5(CHKB):c.225-17C>G	Megaconial type congenital muscular dystrophy [RCV002904160]	likely benign	22	50582374	50582374	Human	1	name , alternate_id
156389993	CV2122372	single nucleotide variant	NM_005198.5(CHKB):c.818+11A>T	Megaconial type congenital muscular dystrophy [RCV002943796]	uncertain significance	22	50580179	50580179	Human	1	name , alternate_id
156083635	CV2184334	duplication	NM_005198.5(CHKB):c.1032-3dup	Megaconial type congenital muscular dystrophy [RCV003054116]	benign	22	50579509	50579510	Human	1	name , alternate_id
401855176	CV2752773	single nucleotide variant	NM_005198.5(CHKB):c.1032-2A>T	Megaconial type congenital muscular dystrophy [RCV003337827]	uncertain significance	22	50579509	50579509	Human	1	name , alternate_id
404997570	CV2868356	single nucleotide variant	NM_005198.5(CHKB):c.334-17T>C	Megaconial type congenital muscular dystrophy [RCV003525806]	likely benign	22	50581879	50581879	Human	1	name , alternate_id
404997882	CV2875896	single nucleotide variant	NM_005198.5(CHKB):c.333+13T>C	Megaconial type congenital muscular dystrophy [RCV003525834]	likely benign	22	50582236	50582236	Human	1	name , alternate_id
405010277	CV2898369	single nucleotide variant	NM_005198.5(CHKB):c.677+18A>G	Megaconial type congenital muscular dystrophy [RCV003527183]	likely benign	22	50580547	50580547	Human	1	name , alternate_id
405000395	CV2913835	single nucleotide variant	NM_005198.5(CHKB):c.333+18G>A	Megaconial type congenital muscular dystrophy [RCV003526237]	likely benign	22	50582231	50582231	Human	1	name , alternate_id
405188775	CV3018593	single nucleotide variant	NM_005198.5(CHKB):c.447+20C>G	Megaconial type congenital muscular dystrophy [RCV003640556]	likely benign	22	50581729	50581729	Human	1	name , alternate_id
405199659	CV3059932	single nucleotide variant	NM_005198.5(CHKB):c.225-16T>C	Megaconial type congenital muscular dystrophy [RCV003642004]	likely benign	22	50582373	50582373	Human	1	name , alternate_id
405202119	CV3076921	single nucleotide variant	NM_005198.5(CHKB):c.678-16T>A	Megaconial type congenital muscular dystrophy [RCV003642327]	likely benign	22	50580432	50580432	Human	1	name , alternate_id
405105499	CV3139863	single nucleotide variant	NM_005198.5(CHKB):c.333+19C>T	Megaconial type congenital muscular dystrophy [RCV003835274]	likely benign	22	50582230	50582230	Human	1	name , alternate_id
405215603	CV3143283	single nucleotide variant	NM_005198.5(CHKB):c.224+11A>G	Megaconial type congenital muscular dystrophy [RCV003846447]	likely benign	22	50582547	50582547	Human	1	name , alternate_id
405220935	CV3157842	single nucleotide variant	NM_005198.5(CHKB):c.736+11G>A	Megaconial type congenital muscular dystrophy [RCV003863534]	likely benign	22	50580347	50580347	Human	1	name , alternate_id
11623592	CV338612	single nucleotide variant	NM_005198.5(CHKB):c.927+10C>G	Megaconial type congenital muscular dystrophy [RCV000374708]	conflicting interpretations of pathogenicity\|uncertain significance	22	50579964	50579964	Human	1	name , alternate_id
11645627	CV351843	single nucleotide variant	NM_005198.5(CHKB):c.1114-3T>G	Megaconial type congenital muscular dystrophy [RCV000266280]	uncertain significance	22	50579258	50579258	Human	1	name , alternate_id
597830508	CV3743045	single nucleotide variant	NM_005198.5(CHKB):c.582-15T>C	Megaconial type congenital muscular dystrophy [RCV005062053]	likely benign	22	50580675	50580675	Human	1	name , alternate_id
12847521	CV377599	single nucleotide variant	NM_005198.5(CHKB):c.737-16C>T	Megaconial type congenital muscular dystrophy [RCV002059937]\|not specified [RCV000443638]	likely benign	22	50580287	50580287	Human	1	name , alternate_id
12834964	CV378763	single nucleotide variant	NM_005198.5(CHKB):c.447+12G>C	Megaconial type congenital muscular dystrophy [RCV002059766]\|not specified [RCV000420858]	likely benign	22	50581737	50581737	Human	1	name , alternate_id
597867263	CV3802974	single nucleotide variant	NM_005198.5(CHKB):c.581+20A>G	Megaconial type congenital muscular dystrophy [RCV005147761]	likely benign	22	50581400	50581400	Human	1	name , alternate_id
597887546	CV3804323	single nucleotide variant	NM_005198.5(CHKB):c.224+19G>A	Megaconial type congenital muscular dystrophy [RCV005150774]	likely benign	22	50582539	50582539	Human	1	name , alternate_id
597964682	CV3848134	single nucleotide variant	NM_005198.5(CHKB):c.334-16G>A	Megaconial type congenital muscular dystrophy [RCV005194013]	likely benign	22	50581878	50581878	Human	1	name , alternate_id
597905646	CV3853154	single nucleotide variant	NM_005198.5(CHKB):c.581+15T>G	Megaconial type congenital muscular dystrophy [RCV005202811]	likely benign	22	50581405	50581405	Human	1	name , alternate_id
13616584	CV534844	single nucleotide variant	NM_005198.5(CHKB):c.1032-2A>G	Megaconial type congenital muscular dystrophy [RCV000644791]	likely pathogenic	22	50579509	50579509	Human	1	name , alternate_id
13794587	CV552235	single nucleotide variant	NM_005198.5(CHKB):c.1031+3G>C	Megaconial type congenital muscular dystrophy [RCV000679951]	conflicting interpretations of pathogenicity\|uncertain significance	22	50579724	50579724	Human	1	name , alternate_id
14730428	CV670670	single nucleotide variant	NM_005198.5(CHKB):c.678-66G>A	not provided [RCV000835674]	benign	22	50580482	50580482	Human		name
14731571	CV670730	single nucleotide variant	NM_005198.5(CHKB):c.582-24T>G	not provided [RCV000836190]	benign	22	50580684	50580684	Human		name
14730426	CV670735	single nucleotide variant	NM_005198.5(CHKB):c.448-87C>G	not provided [RCV000835673]	benign	22	50581640	50581640	Human		name
14730285	CV670929	single nucleotide variant	NM_005198.5(CHKB):c.677+52G>T	not provided [RCV000835605]	benign	22	50580513	50580513	Human		name
14731568	CV670931	single nucleotide variant	NM_005198.5(CHKB):c.582-53C>A	not provided [RCV000836189]	benign	22	50580713	50580713	Human		name
15137245	CV695884	single nucleotide variant	NM_005198.5(CHKB):c.1114-6C>T	Megaconial type congenital muscular dystrophy [RCV001150214]\|not provided [RCV000876962]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	22	50579261	50579261	Human	1	name , alternate_id
15131786	CV695885	single nucleotide variant	NM_005198.5(CHKB):c.1032-4C>G	Megaconial type congenital muscular dystrophy [RCV001476811]	likely benign	22	50579511	50579511	Human	1	name , alternate_id
15148489	CV695886	single nucleotide variant	NM_005198.5(CHKB):c.1031+9G>A	Megaconial type congenital muscular dystrophy [RCV000878972]	likely benign	22	50579718	50579718	Human	1	name , alternate_id
28871685	CV891858	single nucleotide variant	NM_005198.5(CHKB):c.819-15A>T	Megaconial type congenital muscular dystrophy [RCV001145970]	uncertain significance	22	50580097	50580097	Human	1	name , alternate_id
28871687	CV891859	single nucleotide variant	NM_005198.5(CHKB):c.678-12A>G	Megaconial type congenital muscular dystrophy [RCV001145971]	conflicting interpretations of pathogenicity\|uncertain significance	22	50580428	50580428	Human	1	name , alternate_id
28878663	CV891860	single nucleotide variant	NM_005198.5(CHKB):c.447+12G>A	Megaconial type congenital muscular dystrophy [RCV001148754]	conflicting interpretations of pathogenicity\|uncertain significance	22	50581737	50581737	Human	1	name , alternate_id
150447682	CV1201922	single nucleotide variant	NM_005198.5(CHKB):c.581+138C>G	not provided [RCV001584791]	likely benign	22	50581282	50581282	Human		name
150463139	CV1263763	single nucleotide variant	NM_005198.5(CHKB):c.1114-29C>T	not provided [RCV001682464]	benign	22	50579284	50579284	Human		name
150485111	CV1273961	single nucleotide variant	NM_005198.5(CHKB):c.1113+61T>C	not provided [RCV001698644]	benign	22	50579365	50579365	Human		name
150442610	CV1287752	single nucleotide variant	NM_005198.5(CHKB):c.582-113G>C	not provided [RCV001725473]	benign	22	50580773	50580773	Human		name
152077420	CV1531319	duplication	NM_005198.5(CHKB):c.1114-18dup	Megaconial type congenital muscular dystrophy [RCV002210780]	benign	22	50579272	50579273	Human	1	name , alternate_id
152160964	CV1606081	single nucleotide variant	NM_005198.5(CHKB):c.1031+20G>A	Megaconial type congenital muscular dystrophy [RCV002180925]	likely benign	22	50579707	50579707	Human	1	name , alternate_id
152163470	CV1646553	single nucleotide variant	NM_005198.5(CHKB):c.1032-11C>T	Megaconial type congenital muscular dystrophy [RCV002160057]	likely benign	22	50579518	50579518	Human	1	name , alternate_id
156192257	CV1904191	single nucleotide variant	NM_005198.5(CHKB):c.1031+14G>T	Megaconial type congenital muscular dystrophy [RCV002574451]	likely benign	22	50579713	50579713	Human	1	name , alternate_id
156242254	CV2105380	single nucleotide variant	NM_005198.5(CHKB):c.1032-10C>T	Megaconial type congenital muscular dystrophy [RCV002933242]	likely benign	22	50579517	50579517	Human	1	name , alternate_id
405198899	CV3044573	single nucleotide variant	NM_005198.5(CHKB):c.1032-20T>C	Megaconial type congenital muscular dystrophy [RCV003641904]	likely benign	22	50579527	50579527	Human	1	name , alternate_id
11617503	CV338607	single nucleotide variant	NM_005198.5(CHKB):c.1114-14G>A	Megaconial type congenital muscular dystrophy [RCV000304952]	uncertain significance	22	50579269	50579269	Human	1	name , alternate_id
597844687	CV3752648	single nucleotide variant	NM_005198.5(CHKB):c.1031+19G>A	Megaconial type congenital muscular dystrophy [RCV005087054]	likely benign	22	50579708	50579708	Human	1	name , alternate_id
597975391	CV3799110	single nucleotide variant	NM_005198.5(CHKB):c.1031+11A>C	Megaconial type congenital muscular dystrophy [RCV005144506]	likely benign	22	50579716	50579716	Human	1	name , alternate_id
13527686	CV508439	single nucleotide variant	NM_005198.5(CHKB):c.1031+15G>A	not specified [RCV000599849]	likely benign	22	50579712	50579712	Human		name
14738685	CV669709	single nucleotide variant	NM_005198.5(CHKB):c.1113+81G>A	not provided [RCV000839512]	likely benign	22	50579345	50579345	Human		name
14733241	CV669715	single nucleotide variant	NM_005198.5(CHKB):c.334-188C>G	not provided [RCV000837011]	likely benign	22	50582050	50582050	Human		name
14732979	CV670683	single nucleotide variant	NM_005198.5(CHKB):c.582-182G>A	not provided [RCV000836892]	benign	22	50580842	50580842	Human		name
14716152	CV670731	single nucleotide variant	NM_005198.5(CHKB):c.581+234G>A	not provided [RCV000829633]	likely benign	22	50581186	50581186	Human		name
28903497	CV891857	single nucleotide variant	NM_005198.5(CHKB):c.1031+12G>A	Megaconial type congenital muscular dystrophy [RCV001144072]	conflicting interpretations of pathogenicity\|uncertain significance	22	50579715	50579715	Human	1	name , alternate_id
14730423	CV656708	deletion	NM_005198.4(CHKB):c.-74_-55del20	not provided [RCV000835672]	benign	22	50582836	50582855	Human		name
8586972	CV121596	single nucleotide variant	NR_110536.1(CHKB-AS1):n.594+20G>A	Lung cancer [RCV000102116]	uncertain significance	22	50587475	50587475	Human		name
151795234	CV1434426	single nucleotide variant	NM_005198.5(CHKB):c.6G>T (p.Ala2=)	Megaconial type congenital muscular dystrophy [RCV001866621]	likely benign	22	50582776	50582776	Human	1	name , alternate_id
155930332	CV2067240	deletion	NM_005198.5(CHKB):c.736+5_736+7del	Megaconial type congenital muscular dystrophy [RCV002838730]	uncertain significance	22	50580351	50580353	Human	1	name , alternate_id
405194749	CV2959373	single nucleotide variant	NM_005198.5(CHKB):c.9C>T (p.Ala3=)	Megaconial type congenital muscular dystrophy [RCV003641308]	likely benign	22	50582773	50582773	Human	1	name , alternate_id
126760186	CV999548	single nucleotide variant	NM_005198.5(CHKB):c.6G>A (p.Ala2=)	Megaconial type congenital muscular dystrophy [RCV001309245]	uncertain significance	22	50582776	50582776	Human	1	name , alternate_id
151854109	CV1511062	deletion	NM_005198.5(CHKB):c.819-16_819-7del	Megaconial type congenital muscular dystrophy [RCV001979315]	uncertain significance	22	50580089	50580098	Human	1	name , alternate_id
152069597	CV1569965	single nucleotide variant	NM_005198.5(CHKB):c.27C>T (p.Ala9=)	Megaconial type congenital muscular dystrophy [RCV002191604]	likely benign	22	50582755	50582755	Human	1	name , alternate_id
152034613	CV1639513	deletion	NM_005198.5(CHKB):c.333+9_333+10del	Megaconial type congenital muscular dystrophy [RCV002187285]	likely benign	22	50582239	50582240	Human	1	name , alternate_id
405199326	CV3055880	single nucleotide variant	NM_005198.5(CHKB):c.21T>A (p.Ala7=)	Megaconial type congenital muscular dystrophy [RCV003641962]	likely benign	22	50582761	50582761	Human	1	name , alternate_id
151844239	CV1496211	single nucleotide variant	NM_005198.5(CHKB):c.1A>T (p.Met1Leu)	Megaconial type congenital muscular dystrophy [RCV001921906]	uncertain significance	22	50582781	50582781	Human	1	name , alternate_id
152080075	CV1546446	single nucleotide variant	NM_005198.5(CHKB):c.81G>A (p.Lys27=)	Megaconial type congenital muscular dystrophy [RCV002130713]	likely benign	22	50582701	50582701	Human	1	name , alternate_id
152116841	CV1553547	deletion	NM_005198.5(CHKB):c.334-31_334-18del	Megaconial type congenital muscular dystrophy [RCV002081007]	likely benign	22	50581880	50581893	Human	1	name , alternate_id
152060605	CV1558244	single nucleotide variant	NM_005198.5(CHKB):c.63C>T (p.Asp21=)	Megaconial type congenital muscular dystrophy [RCV002128295]	likely benign	22	50582719	50582719	Human	1	name , alternate_id
152026589	CV1626523	single nucleotide variant	NM_005198.5(CHKB):c.42T>A (p.Val14=)	Megaconial type congenital muscular dystrophy [RCV002185206]	likely benign	22	50582740	50582740	Human	1	name , alternate_id
156128592	CV2072867	single nucleotide variant	NM_005198.5(CHKB):c.67T>C (p.Leu23=)	Megaconial type congenital muscular dystrophy [RCV002825582]	likely benign	22	50582715	50582715	Human	1	name , alternate_id
11546534	CV257715	deletion	NM_005198.5(CHKB):c.582-13_582-11del	Congenital Muscular Dystrophy, CHKB-related [RCV000380946]\|Megaconial type congenital muscular dystrophy [RCV002058180]\|not specified [RCV000246587]	benign\|likely benign\|uncertain significance	22	50580671	50580673	Human	1	name , trait , alternate_id
405011222	CV2899353	single nucleotide variant	NM_005198.5(CHKB):c.75G>A (p.Gln25=)	Megaconial type congenital muscular dystrophy [RCV003527251]	likely benign	22	50582707	50582707	Human	1	name , alternate_id
127265787	CV1107864	single nucleotide variant	NM_005198.5(CHKB):c.204G>A (p.Glu68=)	Megaconial type congenital muscular dystrophy [RCV001440074]	likely benign	22	50582578	50582578	Human	1	name , alternate_id
127260882	CV1107865	single nucleotide variant	NM_005198.5(CHKB):c.123G>A (p.Leu41=)	Megaconial type congenital muscular dystrophy [RCV001427976]	likely benign	22	50582659	50582659	Human	1	name , alternate_id
127337959	CV1150276	single nucleotide variant	NM_005198.5(CHKB):c.261C>T (p.Leu87=)	Megaconial type congenital muscular dystrophy [RCV001493317]	likely benign	22	50582321	50582321	Human	1	name , alternate_id
8659265	CV134177	single nucleotide variant	NM_005198.5(CHKB):c.216C>T (p.Tyr72=)	Megaconial type congenital muscular dystrophy [RCV000530379]\|not provided [RCV004713278]\|not specified [RCV000116701]	benign\|likely benign\|conflicting interpretations of pathogenicity	22	50582566	50582566	Human	1	name , alternate_id
152145857	CV1564229	single nucleotide variant	NM_005198.5(CHKB):c.120G>A (p.Ser40=)	Megaconial type congenital muscular dystrophy [RCV002138794]	likely benign	22	50582662	50582662	Human	1	name , alternate_id
152088945	CV1603365	single nucleotide variant	NM_005198.5(CHKB):c.222G>C (p.Val74=)	Megaconial type congenital muscular dystrophy [RCV002077441]	likely benign	22	50582560	50582560	Human	1	name , alternate_id
152070803	CV1628493	single nucleotide variant	NM_005198.5(CHKB):c.159C>T (p.Cys53=)	Megaconial type congenital muscular dystrophy [RCV002169264]	likely benign	22	50582623	50582623	Human	1	name , alternate_id
152028333	CV1642747	single nucleotide variant	NM_005198.5(CHKB):c.195G>A (p.Gln65=)	Megaconial type congenital muscular dystrophy [RCV002185801]	likely benign	22	50582587	50582587	Human	1	name , alternate_id
152168494	CV1644319	single nucleotide variant	NM_005198.5(CHKB):c.144A>T (p.Arg48=)	Megaconial type congenital muscular dystrophy [RCV002182463]	likely benign	22	50582638	50582638	Human	1	name , alternate_id
156322997	CV1870842	single nucleotide variant	NM_005198.5(CHKB):c.240C>T (p.Asn80=)	Megaconial type congenital muscular dystrophy [RCV003063201]	likely benign	22	50582342	50582342	Human	1	name , alternate_id
156141167	CV1959716	single nucleotide variant	NM_005198.5(CHKB):c.153A>G (p.Gln51=)	Megaconial type congenital muscular dystrophy [RCV002572577]	likely benign	22	50582629	50582629	Human	1	name , alternate_id
156126278	CV2036333	single nucleotide variant	NM_005198.5(CHKB):c.231C>A (p.Gly77=)	Megaconial type congenital muscular dystrophy [RCV002785990]	likely benign	22	50582351	50582351	Human	1	name , alternate_id
405195264	CV2963767	single nucleotide variant	NM_005198.5(CHKB):c.165G>A (p.Glu55=)	Megaconial type congenital muscular dystrophy [RCV003641380]	likely benign	22	50582617	50582617	Human	1	name , alternate_id
405080227	CV3137161	indel	NM_005198.5(CHKB):c.225-1_225delinsTT	Megaconial type congenital muscular dystrophy [RCV003834060]	likely pathogenic	22	50582357	50582358	Human		name , alternate_id
11631932	CV348184	single nucleotide variant	NM_005198.5(CHKB):c.249C>T (p.Phe83=)	CHKB-related disorder [RCV003910346]\|Megaconial type congenital muscular dystrophy [RCV000542839]\|not provided [RCV001705510]	benign\|likely benign\|uncertain significance	22	50582333	50582333	Human	1	name , trait , alternate_id
597846396	CV3736599	single nucleotide variant	NM_005198.5(CHKB):c.210G>A (p.Arg70=)	Megaconial type congenital muscular dystrophy [RCV005065758]	likely benign	22	50582572	50582572	Human	1	name , alternate_id
597965592	CV3751208	single nucleotide variant	NM_005198.5(CHKB):c.186C>A (p.Arg62=)	Megaconial type congenital muscular dystrophy [RCV005082770]	likely benign	22	50582596	50582596	Human	1	name , alternate_id
12840887	CV378861	single nucleotide variant	NM_005198.5(CHKB):c.14C>T (p.Ala5Val)	Megaconial type congenital muscular dystrophy [RCV000554364]\|not provided [RCV004703950]\|not specified [RCV000431559]	likely benign	22	50582768	50582768	Human	1	name , alternate_id
12847076	CV379875	single nucleotide variant	NM_005198.5(CHKB):c.219C>T (p.Pro73=)	Megaconial type congenital muscular dystrophy [RCV001148756]\|not specified [RCV000442839]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	22	50582563	50582563	Human	1	name , alternate_id
13616582	CV534370	single nucleotide variant	NM_005198.5(CHKB):c.17C>T (p.Thr6Ile)	Megaconial type congenital muscular dystrophy [RCV000644790]	uncertain significance	22	50582765	50582765	Human	1	name , alternate_id
15155070	CV706021	single nucleotide variant	NM_005198.5(CHKB):c.279C>T (p.Ser93=)	Megaconial type congenital muscular dystrophy [RCV002066257]	likely benign	22	50582303	50582303	Human	1	name , alternate_id
15169379	CV729317	single nucleotide variant	NM_005198.5(CHKB):c.255C>T (p.Cys85=)	Megaconial type congenital muscular dystrophy [RCV001455533]	likely benign	22	50582327	50582327	Human	1	name , alternate_id
15193405	CV773641	single nucleotide variant	NM_005198.5(CHKB):c.246C>T (p.Leu82=)	Megaconial type congenital muscular dystrophy [RCV000933353]	likely benign	22	50582336	50582336	Human	1	name , alternate_id
28878666	CV891512	single nucleotide variant	NM_005198.5(CHKB):c.234C>G (p.Leu78=)	Megaconial type congenital muscular dystrophy [RCV001148755]	conflicting interpretations of pathogenicity\|uncertain significance	22	50582348	50582348	Human	1	name , alternate_id
127278065	CV1086136	single nucleotide variant	NM_005198.5(CHKB):c.360C>T (p.Ser120=)	Megaconial type congenital muscular dystrophy [RCV001408253]	likely benign	22	50581836	50581836	Human	1	name , alternate_id
127257595	CV1107861	single nucleotide variant	NM_005198.5(CHKB):c.810T>C (p.Tyr270=)	Megaconial type congenital muscular dystrophy [RCV001437926]	likely benign	22	50580198	50580198	Human	1	name , alternate_id
127241208	CV1107862	single nucleotide variant	NM_005198.5(CHKB):c.702G>T (p.Ser234=)	Megaconial type congenital muscular dystrophy [RCV001423520]	likely benign	22	50580392	50580392	Human	1	name , alternate_id
127284331	CV1107863	single nucleotide variant	NM_005198.5(CHKB):c.390G>T (p.Ser130=)	Megaconial type congenital muscular dystrophy [RCV001449327]	likely benign	22	50581806	50581806	Human	1	name , alternate_id
127319043	CV1129253	single nucleotide variant	NM_005198.5(CHKB):c.924G>A (p.Gln308=)	Megaconial type congenital muscular dystrophy [RCV001466436]	likely benign	22	50579977	50579977	Human	1	name , alternate_id
127332065	CV1129254	single nucleotide variant	NM_005198.5(CHKB):c.843T>C (p.Phe281=)	Megaconial type congenital muscular dystrophy [RCV001471974]	likely benign	22	50580058	50580058	Human	1	name , alternate_id
151761129	CV1349541	single nucleotide variant	NM_005198.5(CHKB):c.34G>A (p.Gly12Arg)	Megaconial type congenital muscular dystrophy [RCV001949154]	uncertain significance	22	50582748	50582748	Human	1	name , alternate_id
151824513	CV1373282	single nucleotide variant	NM_005198.5(CHKB):c.58A>C (p.Lys20Gln)	Megaconial type congenital muscular dystrophy [RCV001934465]	uncertain significance	22	50582724	50582724	Human	1	name , alternate_id
152143250	CV1636623	single nucleotide variant	NM_005198.5(CHKB):c.432G>A (p.Leu144=)	Megaconial type congenital muscular dystrophy [RCV002120664]	likely benign	22	50581764	50581764	Human	1	name , alternate_id
152124392	CV1665672	single nucleotide variant	NM_005198.5(CHKB):c.696C>T (p.Thr232=)	Megaconial type congenital muscular dystrophy [RCV002198485]	likely benign	22	50580398	50580398	Human	1	name , alternate_id
156022646	CV1882473	single nucleotide variant	NM_005198.5(CHKB):c.475C>A (p.Arg159=)	Megaconial type congenital muscular dystrophy [RCV003077700]	likely benign	22	50581526	50581526	Human	1	name , alternate_id
156346869	CV1892979	single nucleotide variant	NM_005198.5(CHKB):c.336C>T (p.Gly112=)	Megaconial type congenital muscular dystrophy [RCV003090683]	likely benign	22	50581860	50581860	Human	1	name , alternate_id
156371054	CV1905370	single nucleotide variant	NM_005198.5(CHKB):c.990G>A (p.Glu330=)	Megaconial type congenital muscular dystrophy [RCV003092432]	likely benign	22	50579768	50579768	Human	1	name , alternate_id
156436732	CV1940303	single nucleotide variant	NM_005198.5(CHKB):c.453G>A (p.Arg151=)	Megaconial type congenital muscular dystrophy [RCV003106255]	likely benign	22	50581548	50581548	Human	1	name , alternate_id
156050698	CV1974356	single nucleotide variant	NM_005198.5(CHKB):c.80A>G (p.Lys27Arg)	Inborn genetic diseases [RCV004973487]\|Megaconial type congenital muscular dystrophy [RCV002590650]\|not provided [RCV003326635]	uncertain significance	22	50582702	50582702	Human	2	name , alternate_id
156009231	CV1981608	single nucleotide variant	NM_005198.5(CHKB):c.912C>A (p.Pro304=)	Megaconial type congenital muscular dystrophy [RCV002618817]	likely benign	22	50579989	50579989	Human	1	name , alternate_id
155935936	CV2045766	single nucleotide variant	NM_005198.5(CHKB):c.546C>T (p.Thr182=)	Megaconial type congenital muscular dystrophy [RCV002751456]	likely benign	22	50581455	50581455	Human	1	name , alternate_id
155942516	CV2051237	single nucleotide variant	NM_005198.5(CHKB):c.528C>T (p.Gly176=)	Megaconial type congenital muscular dystrophy [RCV002815786]	uncertain significance	22	50581473	50581473	Human	1	name , alternate_id
156265586	CV2092023	single nucleotide variant	NM_005198.5(CHKB):c.35G>A (p.Gly12Glu)	Inborn genetic diseases [RCV005321266]\|Megaconial type congenital muscular dystrophy [RCV002895746]	uncertain significance	22	50582747	50582747	Human	2	name , alternate_id
156365017	CV2105870	single nucleotide variant	NM_005198.5(CHKB):c.822C>T (p.Gly274=)	Megaconial type congenital muscular dystrophy [RCV002941893]	likely benign	22	50580079	50580079	Human	1	name , alternate_id
156038980	CV2120284	single nucleotide variant	NM_005198.5(CHKB):c.86C>T (p.Pro29Leu)	Megaconial type congenital muscular dystrophy [RCV002949541]	uncertain significance	22	50582696	50582696	Human	1	name , alternate_id
156241898	CV2173413	single nucleotide variant	NM_005198.5(CHKB):c.882T>C (p.Pro294=)	Megaconial type congenital muscular dystrophy [RCV003043471]	likely benign	22	50580019	50580019	Human	1	name , alternate_id
11542773	CV257716	single nucleotide variant	NM_005198.5(CHKB):c.457T>C (p.Leu153=)	Megaconial type congenital muscular dystrophy [RCV001081532]\|not provided [RCV000711197]\|not specified [RCV000241585]	likely benign\|conflicting interpretations of pathogenicity	22	50581544	50581544	Human	1	name , alternate_id
404994895	CV2854921	single nucleotide variant	NM_005198.5(CHKB):c.753C>G (p.Leu251=)	Megaconial type congenital muscular dystrophy [RCV003525541]	likely benign	22	50580255	50580255	Human	1	name , alternate_id
404997421	CV2875283	single nucleotide variant	NM_005198.5(CHKB):c.444C>A (p.Ile148=)	Megaconial type congenital muscular dystrophy [RCV003525791]	likely benign	22	50581752	50581752	Human	1	name , alternate_id
405006272	CV2879802	single nucleotide variant	NM_005198.5(CHKB):c.519A>G (p.Gln173=)	Megaconial type congenital muscular dystrophy [RCV003526687]	likely benign	22	50581482	50581482	Human	1	name , alternate_id
405012110	CV2900298	single nucleotide variant	NM_005198.5(CHKB):c.744C>A (p.Ile248=)	Megaconial type congenital muscular dystrophy [RCV003527360]	likely benign	22	50580264	50580264	Human	1	name , alternate_id
405201227	CV3078720	single nucleotide variant	NM_005198.5(CHKB):c.834G>A (p.Gly278=)	Megaconial type congenital muscular dystrophy [RCV003642217]	likely benign	22	50580067	50580067	Human	1	name , alternate_id
405245371	CV3161713	single nucleotide variant	NM_005198.5(CHKB):c.504C>T (p.Ala168=)	Megaconial type congenital muscular dystrophy [RCV003868426]	likely benign	22	50581497	50581497	Human	1	name , alternate_id
11612900	CV338617	single nucleotide variant	NM_005198.5(CHKB):c.745T>C (p.Leu249=)	Megaconial type congenital muscular dystrophy [RCV000263754]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	22	50580263	50580263	Human	1	name , alternate_id
11624506	CV338620	single nucleotide variant	NM_005198.5(CHKB):c.708C>T (p.Val236=)	Megaconial type congenital muscular dystrophy [RCV000878867]\|not provided [RCV004719076]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	22	50580386	50580386	Human	1	name , alternate_id
597928968	CV3749200	single nucleotide variant	NM_005198.5(CHKB):c.801C>T (p.Tyr267=)	Megaconial type congenital muscular dystrophy [RCV005075656]	likely benign	22	50580207	50580207	Human	1	name , alternate_id
597948854	CV3759216	single nucleotide variant	NM_005198.5(CHKB):c.585C>T (p.Tyr195=)	Megaconial type congenital muscular dystrophy [RCV005079013]	likely benign	22	50580657	50580657	Human	1	name , alternate_id
12844006	CV377616	single nucleotide variant	NM_005198.5(CHKB):c.597C>T (p.Ile199=)	CHKB-related disorder [RCV003970201]\|Megaconial type congenital muscular dystrophy [RCV000644793]\|not provided [RCV001712393]	likely benign	22	50580645	50580645	Human	1	name , trait , alternate_id
597920416	CV3781249	single nucleotide variant	NM_005198.5(CHKB):c.780C>G (p.Leu260=)	Megaconial type congenital muscular dystrophy [RCV005130131]	likely benign	22	50580228	50580228	Human	1	name , alternate_id
12836489	CV378767	single nucleotide variant	NM_005198.5(CHKB):c.38C>T (p.Ala13Val)	Inborn genetic diseases [RCV005318390]\|Megaconial type congenital muscular dystrophy [RCV000785117]\|not provided [RCV001704483]	likely benign\|uncertain significance	22	50582744	50582744	Human	2	name , alternate_id
12843969	CV378854	single nucleotide variant	NM_005198.5(CHKB):c.648C>T (p.Tyr216=)	not specified [RCV000437167]	likely benign	22	50580594	50580594	Human		name
12846512	CV378859	single nucleotide variant	NM_005198.5(CHKB):c.354A>G (p.Leu118=)	Megaconial type congenital muscular dystrophy [RCV002062576]\|not specified [RCV000441787]	likely benign	22	50581842	50581842	Human	1	name , alternate_id
12836185	CV379873	single nucleotide variant	NM_005198.5(CHKB):c.702G>A (p.Ser234=)	Megaconial type congenital muscular dystrophy [RCV001395957]\|not provided [RCV003422411]\|not specified [RCV000422966]	likely benign	22	50580392	50580392	Human	1	name , alternate_id
597874939	CV3813048	single nucleotide variant	NM_005198.5(CHKB):c.798G>A (p.Glu266=)	Megaconial type congenital muscular dystrophy [RCV005148984]	likely benign	22	50580210	50580210	Human	1	name , alternate_id
597916684	CV3851636	single nucleotide variant	NM_005198.5(CHKB):c.915T>A (p.Thr305=)	Megaconial type congenital muscular dystrophy [RCV005204397]	likely benign	22	50579986	50579986	Human	1	name , alternate_id
597967722	CV3853247	single nucleotide variant	NM_005198.5(CHKB):c.705A>C (p.Pro235=)	Megaconial type congenital muscular dystrophy [RCV005194889]	likely benign	22	50580389	50580389	Human	1	name , alternate_id
597864528	CV3861072	single nucleotide variant	NM_005198.5(CHKB):c.385C>A (p.Arg129=)	Megaconial type congenital muscular dystrophy [RCV005196420]	likely benign	22	50581811	50581811	Human	1	name , alternate_id
13465202	CV470345	single nucleotide variant	NM_005198.5(CHKB):c.594G>A (p.Gln198=)	Megaconial type congenital muscular dystrophy [RCV000545878]	likely benign	22	50580648	50580648	Human	1	name , alternate_id
13467613	CV470354	single nucleotide variant	NM_005198.5(CHKB):c.315G>A (p.Leu105=)	Megaconial type congenital muscular dystrophy [RCV000555273]	likely benign	22	50582267	50582267	Human	1	name , alternate_id
13530523	CV508221	single nucleotide variant	NM_005198.5(CHKB):c.870C>T (p.His290=)	Megaconial type congenital muscular dystrophy [RCV001515742]\|not specified [RCV000600730]	benign\|likely benign	22	50580031	50580031	Human	1	name , alternate_id
13539286	CV508445	single nucleotide variant	NM_005198.5(CHKB):c.516G>A (p.Ala172=)	CHKB-related disorder [RCV003962803]\|Megaconial type congenital muscular dystrophy [RCV002066512]\|not specified [RCV000613073]	likely benign	22	50581485	50581485	Human	1	name , trait , alternate_id
13817210	CV572044	single nucleotide variant	NM_005198.5(CHKB):c.55G>C (p.Ala19Pro)	Megaconial type congenital muscular dystrophy [RCV000692864]	uncertain significance	22	50582727	50582727	Human	1	name , alternate_id
13817303	CV574156	deletion	NM_005198.5(CHKB):c.268del (p.His90fs)	Megaconial type congenital muscular dystrophy [RCV000706926]	pathogenic	22	50582314	50582314	Human	1	name , alternate_id
15124268	CV694752	single nucleotide variant	NM_005198.5(CHKB):c.621C>T (p.Leu207=)	Megaconial type congenital muscular dystrophy [RCV000874740]	likely benign	22	50580621	50580621	Human	1	name , alternate_id
15188523	CV706020	single nucleotide variant	NM_005198.5(CHKB):c.687A>G (p.Leu229=)	Megaconial type congenital muscular dystrophy [RCV000953903]	likely benign	22	50580407	50580407	Human	1	name , alternate_id
15150901	CV758190	single nucleotide variant	NM_005198.5(CHKB):c.624T>G (p.Pro208=)	not provided [RCV000923563]	likely benign	22	50580618	50580618	Human		name
15193401	CV773638	single nucleotide variant	NM_005198.5(CHKB):c.633C>T (p.Asn211=)	Megaconial type congenital muscular dystrophy [RCV001466730]	likely benign	22	50580609	50580609	Human	1	name , alternate_id
15113981	CV773639	single nucleotide variant	NM_005198.5(CHKB):c.516G>T (p.Ala172=)	Megaconial type congenital muscular dystrophy [RCV000939232]	likely benign	22	50581485	50581485	Human	1	name , alternate_id
15126557	CV773640	single nucleotide variant	NM_005198.5(CHKB):c.306T>A (p.Leu102=)	Megaconial type congenital muscular dystrophy [RCV001492699]	likely benign	22	50582276	50582276	Human	1	name , alternate_id
26903366	CV849458	single nucleotide variant	NM_005198.5(CHKB):c.468A>G (p.Gln156=)	Megaconial type congenital muscular dystrophy [RCV001069168]	uncertain significance	22	50581533	50581533	Human	1	name , alternate_id
126756044	CV999547	single nucleotide variant	NM_005198.5(CHKB):c.61G>A (p.Asp21Asn)	Megaconial type congenital muscular dystrophy [RCV001308006]	uncertain significance	22	50582721	50582721	Human	1	name , alternate_id
126731818	CV1014679	single nucleotide variant	NM_005198.5(CHKB):c.106C>T (p.Arg36Trp)	Megaconial type congenital muscular dystrophy [RCV001313107]	uncertain significance	22	50582676	50582676	Human	1	name , alternate_id
126920448	CV1052213	single nucleotide variant	NM_005198.5(CHKB):c.293C>T (p.Pro98Leu)	Megaconial type congenital muscular dystrophy [RCV001362882]	uncertain significance	22	50582289	50582289	Human	1	name , alternate_id
127249755	CV1065073	single nucleotide variant	NM_005198.5(CHKB):c.216C>G (p.Tyr72Ter)	Megaconial type congenital muscular dystrophy [RCV001385174]	pathogenic	22	50582566	50582566	Human	1	name , alternate_id
127270777	CV1086135	single nucleotide variant	NM_005198.5(CHKB):c.1137G>A (p.Gln379=)	Megaconial type congenital muscular dystrophy [RCV001405128]	likely benign	22	50579232	50579232	Human	1	name , alternate_id
127317868	CV1150275	single nucleotide variant	NM_005198.5(CHKB):c.1110C>T (p.Tyr370=)	Megaconial type congenital muscular dystrophy [RCV001483303]	likely benign	22	50579429	50579429	Human	1	name , alternate_id
151235653	CV1319092	deletion	NM_005198.5(CHKB):c.419del (p.Pro140fs)	Muscular dystrophy [RCV001795875]	likely pathogenic	22	50581777	50581777	Human	2	name
151349621	CV1324431	deletion	NM_005198.5(CHKB):c.463del (p.Thr155fs)	Megaconial type congenital muscular dystrophy [RCV001808876]	pathogenic	22	50581538	50581538	Human	1	name , alternate_id
151854842	CV1344441	single nucleotide variant	NM_005198.5(CHKB):c.119C>G (p.Ser40Trp)	Megaconial type congenital muscular dystrophy [RCV001923260]	uncertain significance	22	50582663	50582663	Human	1	name , alternate_id
151841940	CV1363001	single nucleotide variant	NM_005198.5(CHKB):c.196C>A (p.Pro66Thr)	Inborn genetic diseases [RCV002625390]\|Megaconial type congenital muscular dystrophy [RCV002015440]	uncertain significance	22	50582586	50582586	Human	2	name , alternate_id
151849516	CV1389582	single nucleotide variant	NM_005198.5(CHKB):c.244C>G (p.Leu82Val)	Megaconial type congenital muscular dystrophy [RCV001937162]	uncertain significance	22	50582338	50582338	Human	1	name , alternate_id
151889322	CV1398771	single nucleotide variant	NM_005198.5(CHKB):c.212T>G (p.Val71Gly)	Megaconial type congenital muscular dystrophy [RCV001942778]	uncertain significance	22	50582570	50582570	Human	1	name , alternate_id
151764365	CV1418566	single nucleotide variant	NM_005198.5(CHKB):c.163G>T (p.Glu55Ter)	Megaconial type congenital muscular dystrophy [RCV001928889]	pathogenic	22	50582619	50582619	Human	1	name , alternate_id
151804892	CV1457017	single nucleotide variant	NM_005198.5(CHKB):c.212T>C (p.Val71Ala)	Megaconial type congenital muscular dystrophy [RCV001877709]	uncertain significance	22	50582570	50582570	Human	1	name , alternate_id
151846582	CV1501811	single nucleotide variant	NM_005198.5(CHKB):c.170T>G (p.Leu57Trp)	Megaconial type congenital muscular dystrophy [RCV002015995]	uncertain significance	22	50582612	50582612	Human	1	name , alternate_id
151730094	CV1506103	single nucleotide variant	NM_005198.5(CHKB):c.292C>T (p.Pro98Ser)	Megaconial type congenital muscular dystrophy [RCV001892151]	uncertain significance	22	50582290	50582290	Human	1	name , alternate_id
151728818	CV1515197	single nucleotide variant	NM_005198.5(CHKB):c.104G>C (p.Arg35Pro)	Megaconial type congenital muscular dystrophy [RCV002040986]	uncertain significance	22	50582678	50582678	Human	1	name , alternate_id
152085320	CV1533722	single nucleotide variant	NM_005198.5(CHKB):c.1173C>T (p.Val391=)	Megaconial type congenital muscular dystrophy [RCV002093401]	likely benign	22	50579196	50579196	Human	1	name , alternate_id
156010643	CV1880388	single nucleotide variant	NM_005198.5(CHKB):c.1080G>A (p.Gln360=)	Megaconial type congenital muscular dystrophy [RCV003077067]	likely benign	22	50579459	50579459	Human	1	name , alternate_id
155912256	CV1935311	single nucleotide variant	NM_005198.5(CHKB):c.150C>A (p.Tyr50Ter)	Megaconial type congenital muscular dystrophy [RCV002510642]	likely pathogenic	22	50582632	50582632	Human	1	name , alternate_id
156387039	CV1995864	single nucleotide variant	NM_005198.5(CHKB):c.161G>A (p.Arg54Gln)	Megaconial type congenital muscular dystrophy [RCV002654062]	uncertain significance	22	50582621	50582621	Human	1	name , alternate_id
156108315	CV1996844	single nucleotide variant	NM_005198.5(CHKB):c.146C>T (p.Ala49Val)	Megaconial type congenital muscular dystrophy [RCV002662386]	uncertain significance	22	50582636	50582636	Human	1	name , alternate_id
156289785	CV1998122	single nucleotide variant	NM_005198.5(CHKB):c.134C>T (p.Ala45Val)	Megaconial type congenital muscular dystrophy [RCV002647146]	uncertain significance	22	50582648	50582648	Human	1	name , alternate_id
156198311	CV2034591	single nucleotide variant	NM_005198.5(CHKB):c.1086C>G (p.Ser362=)	Megaconial type congenital muscular dystrophy [RCV002766142]	likely benign	22	50579453	50579453	Human	1	name , alternate_id
156047374	CV2059902	single nucleotide variant	NM_005198.5(CHKB):c.176G>C (p.Gly59Ala)	Megaconial type congenital muscular dystrophy [RCV002796651]	uncertain significance	22	50582606	50582606	Human	1	name , alternate_id
156196289	CV2066611	single nucleotide variant	NM_005198.5(CHKB):c.227G>A (p.Gly76Glu)	Megaconial type congenital muscular dystrophy [RCV002828782]	uncertain significance	22	50582355	50582355	Human	1	name , alternate_id
156004421	CV2103531	single nucleotide variant	NM_005198.5(CHKB):c.291G>T (p.Glu97Asp)	Inborn genetic diseases [RCV004066162]\|Megaconial type congenital muscular dystrophy [RCV002908787]	uncertain significance	22	50582291	50582291	Human	2	name , alternate_id
10450203	CV215607	single nucleotide variant	NM_005198.5(CHKB):c.217C>T (p.Pro73Ser)	Megaconial type congenital muscular dystrophy [RCV003765311]\|not provided [RCV001762428]\|not specified [RCV000203187]	uncertain significance	22	50582565	50582565	Human	1	name , alternate_id
156353491	CV2157852	deletion	NM_005198.5(CHKB):c.939del (p.Arg314fs)	Megaconial type congenital muscular dystrophy [RCV003031054]	pathogenic	22	50579819	50579819	Human	1	name , alternate_id
156328057	CV2161085	single nucleotide variant	NM_005198.5(CHKB):c.1107T>G (p.Gly369=)	Megaconial type congenital muscular dystrophy [RCV003029604]	likely benign	22	50579432	50579432	Human	1	name , alternate_id
156226905	CV2216072	single nucleotide variant	NM_005198.5(CHKB):c.260T>C (p.Leu87Pro)	Inborn genetic diseases [RCV002712501]\|Megaconial type congenital muscular dystrophy [RCV003126275]	uncertain significance	22	50582322	50582322	Human	2	name , alternate_id
156178467	CV2327437	single nucleotide variant	NM_005198.5(CHKB):c.131A>C (p.Asp44Ala)	Inborn genetic diseases [RCV002916977]	uncertain significance	22	50582651	50582651	Human	1	name
156288772	CV2327439	single nucleotide variant	NM_005198.5(CHKB):c.137A>C (p.Glu46Ala)	Inborn genetic diseases [RCV002935443]	uncertain significance	22	50582645	50582645	Human	1	name
156435670	CV2402956	duplication	NM_005198.5(CHKB):c.844dup (p.Cys282fs)	Megaconial type congenital muscular dystrophy [RCV003126384]	likely pathogenic	22	50580056	50580057	Human	1	name , alternate_id
329394296	CV2469799	single nucleotide variant	NM_005198.5(CHKB):c.272T>A (p.Leu91Gln)	Inborn genetic diseases [RCV003218722]	uncertain significance	22	50582310	50582310	Human	1	name
401758722	CV2694244	single nucleotide variant	NM_005198.5(CHKB):c.116C>T (p.Ser39Leu)	Inborn genetic diseases [RCV003279876]	uncertain significance	22	50582666	50582666	Human	1	name
401887363	CV2775716	single nucleotide variant	NM_005198.5(CHKB):c.274C>T (p.Pro92Ser)	Inborn genetic diseases [RCV003352253]	uncertain significance	22	50582308	50582308	Human	1	name
405002789	CV2922684	deletion	NM_005198.5(CHKB):c.536del (p.Met179fs)	Megaconial type congenital muscular dystrophy [RCV003526487]	pathogenic	22	50581465	50581465	Human	1	name , alternate_id
405002904	CV2932084	deletion	NM_005198.5(CHKB):c.556del (p.His186fs)	Megaconial type congenital muscular dystrophy [RCV003526498]	pathogenic	22	50581445	50581445	Human	1	name , alternate_id
405198270	CV2996838	deletion	NM_005198.5(CHKB):c.446del (p.Pro149fs)	Megaconial type congenital muscular dystrophy [RCV003641813]	pathogenic	22	50581750	50581750	Human	1	name , alternate_id
405187613	CV3005908	single nucleotide variant	NM_005198.5(CHKB):c.187C>T (p.Arg63Ter)	Megaconial type congenital muscular dystrophy [RCV003640419]	pathogenic	22	50582595	50582595	Human	1	name , alternate_id
405191233	CV3047095	single nucleotide variant	NM_005198.5(CHKB):c.1179C>G (p.Ser393=)	Megaconial type congenital muscular dystrophy [RCV003640862]	likely benign	22	50579190	50579190	Human	1	name , alternate_id
405661676	CV3297052	single nucleotide variant	NM_005198.5(CHKB):c.209G>C (p.Arg70Thr)	Inborn genetic diseases [RCV004439249]	uncertain significance	22	50582573	50582573	Human	1	name
11630273	CV351849	single nucleotide variant	NM_005198.5(CHKB):c.275C>T (p.Pro92Leu)	Inborn genetic diseases [RCV004021870]\|Megaconial type congenital muscular dystrophy [RCV000705029]\|not provided [RCV000591283]	uncertain significance	22	50582307	50582307	Human	2	name , alternate_id
11628424	CV352688	single nucleotide variant	NM_005198.5(CHKB):c.149A>G (p.Tyr50Cys)	CHKB-related disorder [RCV003912443]\|Megaconial type congenital muscular dystrophy [RCV000541885]\|not provided [RCV003457676]\|not specified [RCV000433145]	benign\|likely benign\|uncertain significance	22	50582633	50582633	Human	1	name , trait , alternate_id
597632101	CV3653120	duplication	NM_005198.5(CHKB):c.683dup (p.Leu228fs)	Inborn genetic diseases [RCV004967833]	pathogenic	22	50580410	50580411	Human	1	name
598214479	CV3951591	single nucleotide variant	NM_005198.5(CHKB):c.262C>T (p.Pro88Ser)	Inborn genetic diseases [RCV005316579]	uncertain significance	22	50582320	50582320	Human	1	name
8602376	CV39910	single nucleotide variant	NM_005198.5(CHKB):c.116C>A (p.Ser39Ter)	Megaconial type congenital muscular dystrophy [RCV000023943]	pathogenic	22	50582666	50582666	Human	1	name , alternate_id
8568696	CV39911	duplication	NM_005198.5(CHKB):c.458dup (p.Leu153fs)	Megaconial type congenital muscular dystrophy [RCV000023944]	pathogenic	22	50581542	50581543	Human	1	name , alternate_id
12898541	CV411045	single nucleotide variant	NM_005198.5(CHKB):c.262C>G (p.Pro88Ala)	Megaconial type congenital muscular dystrophy [RCV001337148]\|not provided [RCV000478143]	uncertain significance	22	50582320	50582320	Human	1	name , alternate_id
12902032	CV411047	single nucleotide variant	NM_005198.5(CHKB):c.164A>G (p.Glu55Gly)	not provided [RCV000486121]	uncertain significance	22	50582618	50582618	Human		name
13479126	CV442355	single nucleotide variant	NM_005198.5(CHKB):c.263C>T (p.Pro88Leu)	Megaconial type congenital muscular dystrophy [RCV000779378]\|not specified [RCV000516888]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	22	50582319	50582319	Human	1	name , alternate_id
13486207	CV446429	single nucleotide variant	NM_005198.5(CHKB):c.151C>T (p.Gln51Ter)	Megaconial type congenital muscular dystrophy [RCV001255615]\|not provided [RCV000522832]	pathogenic\|likely pathogenic	22	50582631	50582631	Human	1	name , alternate_id
13811517	CV572040	single nucleotide variant	NM_005198.5(CHKB):c.140G>A (p.Arg47His)	Megaconial type congenital muscular dystrophy [RCV000688801]	uncertain significance	22	50582642	50582642	Human	1	name , alternate_id
13815898	CV574157	single nucleotide variant	NM_005198.5(CHKB):c.119C>T (p.Ser40Leu)	Megaconial type congenital muscular dystrophy [RCV000706005]	uncertain significance	22	50582663	50582663	Human	1	name , alternate_id
14704230	CV626289	single nucleotide variant	NM_005198.5(CHKB):c.138G>T (p.Glu46Asp)	Inborn genetic diseases [RCV002535821]\|Megaconial type congenital muscular dystrophy [RCV000790952]	conflicting interpretations of pathogenicity\|uncertain significance	22	50582644	50582644	Human	2	name , alternate_id
14705606	CV649551	deletion	NM_005198.5(CHKB):c.598del (p.Gln200fs)	Megaconial type congenital muscular dystrophy [RCV000791740]\|not provided [RCV004721600]	pathogenic	22	50580644	50580644	Human	1	name , alternate_id
14729185	CV649553	single nucleotide variant	NM_005198.5(CHKB):c.214T>C (p.Tyr72His)	Inborn genetic diseases [RCV004609531]\|Megaconial type congenital muscular dystrophy [RCV000800374]	uncertain significance	22	50582568	50582568	Human	2	name , alternate_id
14739931	CV649554	single nucleotide variant	NM_005198.5(CHKB):c.183G>T (p.Trp61Cys)	Megaconial type congenital muscular dystrophy [RCV000805146]	uncertain significance	22	50582599	50582599	Human	1	name , alternate_id
26899705	CV849460	single nucleotide variant	NM_005198.5(CHKB):c.155G>T (p.Trp52Leu)	Megaconial type congenital muscular dystrophy [RCV001046355]	uncertain significance	22	50582627	50582627	Human	1	name , alternate_id
38470123	CV939365	single nucleotide variant	NM_005198.5(CHKB):c.220G>C (p.Val74Leu)	Megaconial type congenital muscular dystrophy [RCV001213487]\|not provided [RCV004822323]	uncertain significance	22	50582562	50582562	Human	1	name , alternate_id
38483145	CV951533	single nucleotide variant	NM_005198.5(CHKB):c.220G>A (p.Val74Met)	Megaconial type congenital muscular dystrophy [RCV001235805]	uncertain significance	22	50582562	50582562	Human	1	name , alternate_id
126756359	CV999546	single nucleotide variant	NM_005198.5(CHKB):c.184C>T (p.Arg62Cys)	Inborn genetic diseases [RCV004034157]\|Megaconial type congenital muscular dystrophy [RCV001308088]	uncertain significance	22	50582598	50582598	Human	2	name , alternate_id
126771471	CV1014676	single nucleotide variant	NM_005198.5(CHKB):c.908A>G (p.Tyr303Cys)	Megaconial type congenital muscular dystrophy [RCV001323181]	uncertain significance	22	50579993	50579993	Human	1	name , alternate_id
126749616	CV1014677	single nucleotide variant	NM_005198.5(CHKB):c.815A>G (p.Tyr272Cys)	Megaconial type congenital muscular dystrophy [RCV001326571]	uncertain significance	22	50580193	50580193	Human	1	name , alternate_id
126747765	CV1035274	single nucleotide variant	NM_005198.5(CHKB):c.893C>T (p.Ala298Val)	Megaconial type congenital muscular dystrophy [RCV001337530]	uncertain significance	22	50580008	50580008	Human	1	name , alternate_id
126771361	CV1035275	single nucleotide variant	NM_005198.5(CHKB):c.668G>A (p.Gly223Asp)	Megaconial type congenital muscular dystrophy [RCV001344998]	uncertain significance	22	50580574	50580574	Human	1	name , alternate_id
126774735	CV1035276	single nucleotide variant	NM_005198.5(CHKB):c.641A>G (p.Glu214Gly)	Megaconial type congenital muscular dystrophy [RCV001347565]	uncertain significance	22	50580601	50580601	Human	1	name , alternate_id
126917957	CV1052212	single nucleotide variant	NM_005198.5(CHKB):c.423G>T (p.Glu141Asp)	Megaconial type congenital muscular dystrophy [RCV001372376]	uncertain significance	22	50581773	50581773	Human	1	name , alternate_id
127317055	CV1159242	single nucleotide variant	NM_005198.5(CHKB):c.853G>T (p.Val285Phe)	Megaconial type congenital muscular dystrophy [RCV001520849]	benign	22	50580048	50580048	Human	1	name , alternate_id
150555057	CV1295853	single nucleotide variant	NM_005198.5(CHKB):c.678G>C (p.Arg226Ser)	not provided [RCV001772362]	uncertain significance	22	50580416	50580416	Human		name
151233272	CV1320186	single nucleotide variant	NM_005198.5(CHKB):c.785T>G (p.Leu262Arg)	Megaconial type congenital muscular dystrophy [RCV001799576]	uncertain significance	22	50580223	50580223	Human	1	name , alternate_id
8659267	CV134179	single nucleotide variant	NM_005198.5(CHKB):c.983A>G (p.Gln328Arg)	Megaconial type congenital muscular dystrophy [RCV001084488]\|not provided [RCV000116703]\|not specified [RCV000431338]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	22	50579775	50579775	Human	1	name , alternate_id
151784490	CV1344701	single nucleotide variant	NM_005198.5(CHKB):c.451C>T (p.Arg151Trp)	Inborn genetic diseases [RCV004612085]\|Megaconial type congenital muscular dystrophy [RCV001989434]	uncertain significance	22	50581550	50581550	Human	2	name , alternate_id
151758827	CV1349890	single nucleotide variant	NM_005198.5(CHKB):c.385C>T (p.Arg129Trp)	Megaconial type congenital muscular dystrophy [RCV001987023]	uncertain significance	22	50581811	50581811	Human	1	name , alternate_id
151733207	CV1355698	single nucleotide variant	NM_005198.5(CHKB):c.910C>A (p.Pro304Thr)	CHKB-related disorder [RCV003984154]\|Megaconial type congenital muscular dystrophy [RCV001984420]	uncertain significance	22	50579991	50579991	Human	1	name , trait , alternate_id
151796597	CV1356117	single nucleotide variant	NM_005198.5(CHKB):c.365T>C (p.Met122Thr)	Megaconial type congenital muscular dystrophy [RCV002027704]	uncertain significance	22	50581831	50581831	Human	1	name , alternate_id
151778117	CV1370575	single nucleotide variant	NM_005198.5(CHKB):c.499A>G (p.Ile167Val)	Megaconial type congenital muscular dystrophy [RCV001864708]	uncertain significance	22	50581502	50581502	Human	1	name , alternate_id
151757987	CV1375255	single nucleotide variant	NM_005198.5(CHKB):c.373A>G (p.Ile125Val)	Megaconial type congenital muscular dystrophy [RCV001969860]	uncertain significance	22	50581823	50581823	Human	1	name , alternate_id
151720640	CV1396701	single nucleotide variant	NM_005198.5(CHKB):c.619C>T (p.Leu207Phe)	Megaconial type congenital muscular dystrophy [RCV001891043]	uncertain significance	22	50580623	50580623	Human	1	name , alternate_id
151726928	CV1408040	single nucleotide variant	NM_005198.5(CHKB):c.452G>A (p.Arg151Gln)	Megaconial type congenital muscular dystrophy [RCV001891840]	uncertain significance	22	50581549	50581549	Human	1	name , alternate_id
151756346	CV1418053	single nucleotide variant	NM_005198.5(CHKB):c.485T>C (p.Val162Ala)	Megaconial type congenital muscular dystrophy [RCV001894832]	uncertain significance	22	50581516	50581516	Human	1	name , alternate_id
151835390	CV1419027	single nucleotide variant	NM_005198.5(CHKB):c.697C>T (p.Pro233Ser)	Megaconial type congenital muscular dystrophy [RCV001935498]	uncertain significance	22	50580397	50580397	Human	1	name , alternate_id
151758566	CV1438933	single nucleotide variant	NM_005198.5(CHKB):c.925C>T (p.Gln309Ter)	Megaconial type congenital muscular dystrophy [RCV002007590]	pathogenic	22	50579976	50579976	Human	1	name , alternate_id
151810627	CV1460253	single nucleotide variant	NM_005198.5(CHKB):c.359G>A (p.Ser120Asn)	Megaconial type congenital muscular dystrophy [RCV002048822]	uncertain significance	22	50581837	50581837	Human	1	name , alternate_id
151715557	CV1472624	single nucleotide variant	NM_005198.5(CHKB):c.537G>A (p.Met179Ile)	Megaconial type congenital muscular dystrophy [RCV002039275]	uncertain significance	22	50581464	50581464	Human	1	name , alternate_id
151880045	CV1475281	single nucleotide variant	NM_005198.5(CHKB):c.442A>G (p.Ile148Val)	Megaconial type congenital muscular dystrophy [RCV001961524]	uncertain significance	22	50581754	50581754	Human	1	name , alternate_id
151864330	CV1477249	single nucleotide variant	NM_005198.5(CHKB):c.302T>C (p.Val101Ala)	Megaconial type congenital muscular dystrophy [RCV001938974]	uncertain significance	22	50582280	50582280	Human	1	name , alternate_id
151890138	CV1514601	single nucleotide variant	NM_005198.5(CHKB):c.946T>C (p.Tyr316His)	Megaconial type congenital muscular dystrophy [RCV001963570]	uncertain significance	22	50579812	50579812	Human	1	name , alternate_id
155705597	CV1771396	single nucleotide variant	NM_005198.5(CHKB):c.452G>C (p.Arg151Pro)	Megaconial type congenital muscular dystrophy [RCV002295862]	uncertain significance	22	50581549	50581549	Human	1	name , alternate_id
155678678	CV1779266	single nucleotide variant	NM_005198.5(CHKB):c.493G>C (p.Ala165Pro)	Megaconial type congenital muscular dystrophy [RCV002298016]	uncertain significance	22	50581508	50581508	Human	1	name , alternate_id
156408224	CV1873336	single nucleotide variant	NM_005198.5(CHKB):c.704C>G (p.Pro235Arg)	Megaconial type congenital muscular dystrophy [RCV003071179]	uncertain significance	22	50580390	50580390	Human	1	name , alternate_id
156127491	CV1889155	single nucleotide variant	NM_005198.5(CHKB):c.437A>G (p.Gln146Arg)	Megaconial type congenital muscular dystrophy [RCV003081696]	uncertain significance	22	50581759	50581759	Human	1	name , alternate_id
156088907	CV1899156	single nucleotide variant	NM_005198.5(CHKB):c.649A>G (p.Ser217Gly)	Inborn genetic diseases [RCV004614355]\|Megaconial type congenital muscular dystrophy [RCV003080134]	uncertain significance	22	50580593	50580593	Human	2	name , alternate_id
156413632	CV1901019	single nucleotide variant	NM_005198.5(CHKB):c.323C>T (p.Ala108Val)	Megaconial type congenital muscular dystrophy [RCV002588221]	uncertain significance	22	50582259	50582259	Human	1	name , alternate_id
156303496	CV1933644	single nucleotide variant	NM_005198.5(CHKB):c.873G>T (p.Glu291Asp)	Megaconial type congenital muscular dystrophy [RCV002629371]	uncertain significance	22	50580028	50580028	Human	1	name , alternate_id
155902315	CV1999246	single nucleotide variant	NM_005198.5(CHKB):c.376C>T (p.Leu126Phe)	Megaconial type congenital muscular dystrophy [RCV002681178]	uncertain significance	22	50581820	50581820	Human	1	name , alternate_id
155913821	CV2026071	single nucleotide variant	NM_005198.5(CHKB):c.515C>T (p.Ala172Val)	Megaconial type congenital muscular dystrophy [RCV002750330]	uncertain significance	22	50581486	50581486	Human	1	name , alternate_id
156143337	CV2082423	single nucleotide variant	NM_005198.5(CHKB):c.925C>G (p.Gln309Glu)	Megaconial type congenital muscular dystrophy [RCV002872062]	uncertain significance	22	50579976	50579976	Human	1	name , alternate_id
156150634	CV2091052	single nucleotide variant	NM_005198.5(CHKB):c.417C>G (p.Phe139Leu)	Megaconial type congenital muscular dystrophy [RCV002890640]	uncertain significance	22	50581779	50581779	Human	1	name , alternate_id
156242809	CV2101529	single nucleotide variant	NM_005198.5(CHKB):c.871G>A (p.Glu291Lys)	Megaconial type congenital muscular dystrophy [RCV002894972]	uncertain significance	22	50580030	50580030	Human	1	name , alternate_id
156130328	CV2125108	single nucleotide variant	NM_005198.5(CHKB):c.950T>A (p.Leu317Gln)	Megaconial type congenital muscular dystrophy [RCV002953853]	uncertain significance	22	50579808	50579808	Human	1	name , alternate_id
156172211	CV2166084	single nucleotide variant	NM_005198.5(CHKB):c.450T>G (p.Ser150Arg)	Megaconial type congenital muscular dystrophy [RCV003023549]\|not provided [RCV004823087]	uncertain significance	22	50581551	50581551	Human	1	name , alternate_id
156023056	CV2223390	single nucleotide variant	NM_005198.5(CHKB):c.783G>C (p.Met261Ile)	Inborn genetic diseases [RCV002757471]	uncertain significance	22	50580225	50580225	Human	1	name
156270341	CV2326450	single nucleotide variant	NM_005198.5(CHKB):c.484G>A (p.Val162Met)	Inborn genetic diseases [RCV002960293]	uncertain significance	22	50581517	50581517	Human	1	name
156435671	CV2402957	single nucleotide variant	NM_005198.5(CHKB):c.392T>C (p.Leu131Pro)	Megaconial type congenital muscular dystrophy [RCV003126385]	uncertain significance	22	50581804	50581804	Human	1	name , alternate_id
156435672	CV2402958	single nucleotide variant	NM_005198.5(CHKB):c.539C>G (p.Pro180Arg)	Megaconial type congenital muscular dystrophy [RCV003126386]	uncertain significance	22	50581462	50581462	Human	1	name , alternate_id
11550576	CV257714	single nucleotide variant	NM_005198.5(CHKB):c.670A>C (p.Asn224His)	CHKB-related disorder [RCV003891929]\|Megaconial type congenital muscular dystrophy [RCV000644792]\|not provided [RCV001533533]\|not specified [RCV000251936]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	22	50580572	50580572	Human	1	name , trait , alternate_id
405198702	CV3047481	single nucleotide variant	NM_005198.5(CHKB):c.331C>T (p.Gln111Ter)	Megaconial type congenital muscular dystrophy [RCV003641876]	pathogenic	22	50582251	50582251	Human	1	name , alternate_id
11622554	CV338609	single nucleotide variant	NM_005198.5(CHKB):c.980C>T (p.Ser327Phe)	Inborn genetic diseases [RCV003243100]\|Megaconial type congenital muscular dystrophy [RCV001071541]\|not provided [RCV001584048]	uncertain significance	22	50579778	50579778	Human	2	name , alternate_id
11629638	CV348182	single nucleotide variant	NM_005198.5(CHKB):c.722A>G (p.Asn241Ser)	Megaconial type congenital muscular dystrophy [RCV000329772]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	22	50580372	50580372	Human	1	name , alternate_id
11626273	CV351844	single nucleotide variant	NM_005198.5(CHKB):c.944A>G (p.His315Arg)	Inborn genetic diseases [RCV002520068]\|Megaconial type congenital muscular dystrophy [RCV000260134]\|not provided [RCV000997954]	uncertain significance	22	50579814	50579814	Human	2	name , alternate_id
11629183	CV351846	single nucleotide variant	NM_005198.5(CHKB):c.940C>T (p.Arg314Cys)	Megaconial type congenital muscular dystrophy [RCV000495910]	likely pathogenic\|uncertain significance	22	50579818	50579818	Human	1	name , alternate_id
11628045	CV351847	single nucleotide variant	NM_005198.5(CHKB):c.692C>G (p.Ser231Cys)	Megaconial type congenital muscular dystrophy [RCV000294526]	uncertain significance	22	50580402	50580402	Human	1	name , alternate_id
596924807	CV3536757	single nucleotide variant	NM_005198.5(CHKB):c.880C>G (p.Pro294Ala)	Megaconial type congenital muscular dystrophy [RCV004785750]	uncertain significance	22	50580021	50580021	Human	1	name , alternate_id
597632104	CV3653119	single nucleotide variant	NM_005198.5(CHKB):c.953C>T (p.Ala318Val)	Inborn genetic diseases [RCV004967832]	uncertain significance	22	50579805	50579805	Human	1	name
597953236	CV3795493	single nucleotide variant	NM_005198.5(CHKB):c.727A>G (p.Ile243Val)	Megaconial type congenital muscular dystrophy [RCV005136503]	uncertain significance	22	50580367	50580367	Human	1	name , alternate_id
598214483	CV3951592	single nucleotide variant	NM_005198.5(CHKB):c.424G>A (p.Gly142Ser)	Inborn genetic diseases [RCV005316580]	uncertain significance	22	50581772	50581772	Human	1	name
598214486	CV3951593	single nucleotide variant	NM_005198.5(CHKB):c.671A>G (p.Asn224Ser)	Inborn genetic diseases [RCV005316581]	uncertain significance	22	50580571	50580571	Human	1	name
8568695	CV39909	single nucleotide variant	NM_005198.5(CHKB):c.810T>A (p.Tyr270Ter)	CHKB-related disorder [RCV004755750]\|Megaconial type congenital muscular dystrophy [RCV000023942]	pathogenic	22	50580198	50580198	Human	1	name , trait , alternate_id
8602377	CV39912	single nucleotide variant	NM_005198.5(CHKB):c.922C>T (p.Gln308Ter)	Megaconial type congenital muscular dystrophy [RCV000023945]	pathogenic	22	50579979	50579979	Human	1	name , alternate_id
12900190	CV411043	single nucleotide variant	NM_005198.5(CHKB):c.856T>C (p.Tyr286His)	Megaconial type congenital muscular dystrophy [RCV000644789]\|not provided [RCV000481863]	uncertain significance	22	50580045	50580045	Human	1	name , alternate_id
12899601	CV411044	single nucleotide variant	NM_005198.5(CHKB):c.501T>G (p.Ile167Met)	CHKB-related disorder [RCV003972813]\|Megaconial type congenital muscular dystrophy [RCV001085274]\|not provided [RCV000480573]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	22	50581500	50581500	Human	1	name , trait , alternate_id
13211435	CV426384	single nucleotide variant	NM_005198.5(CHKB):c.476G>A (p.Arg159Gln)	Megaconial type congenital muscular dystrophy [RCV001349516]\|not provided [RCV000497439]	uncertain significance	22	50581525	50581525	Human	1	name , alternate_id
13482387	CV442354	single nucleotide variant	NM_005198.5(CHKB):c.821G>A (p.Gly274Asp)	not specified [RCV000517851]	uncertain significance	22	50580080	50580080	Human		name
13500677	CV470346	single nucleotide variant	NM_005198.5(CHKB):c.577G>A (p.Glu193Lys)	Megaconial type congenital muscular dystrophy [RCV000537932]	uncertain significance	22	50581424	50581424	Human	1	name , alternate_id
13468375	CV471601	single nucleotide variant	NM_005198.5(CHKB):c.902C>T (p.Thr301Ile)	Megaconial type congenital muscular dystrophy [RCV000558267]\|not provided [RCV003424120]	likely benign\|uncertain significance	22	50579999	50579999	Human	1	name , alternate_id
13468123	CV471604	single nucleotide variant	NM_005198.5(CHKB):c.466C>G (p.Gln156Glu)	Inborn genetic diseases [RCV004975661]\|Megaconial type congenital muscular dystrophy [RCV000557355]	uncertain significance	22	50581535	50581535	Human	2	name , alternate_id
13499338	CV471986	single nucleotide variant	NM_005198.5(CHKB):c.400C>T (p.Gln134Ter)	Megaconial type congenital muscular dystrophy [RCV000532491]	pathogenic	22	50581796	50581796	Human	1	name , alternate_id
13612256	CV514110	single nucleotide variant	NM_005198.5(CHKB):c.349G>C (p.Val117Leu)	Seizure [RCV000626876]	uncertain significance	22	50581847	50581847	Human	2	name
13704244	CV538502	single nucleotide variant	NM_005198.5(CHKB):c.642G>T (p.Glu214Asp)	Megaconial type congenital muscular dystrophy [RCV000660552]	uncertain significance	22	50580600	50580600	Human	1	name , alternate_id
13814281	CV572036	single nucleotide variant	NM_005198.5(CHKB):c.704C>T (p.Pro235Leu)	Megaconial type congenital muscular dystrophy [RCV000690791]	uncertain significance	22	50580390	50580390	Human	1	name , alternate_id
13803325	CV573420	single nucleotide variant	NM_005198.5(CHKB):c.937A>G (p.Ile313Val)	Megaconial type congenital muscular dystrophy [RCV000699141]	uncertain significance	22	50579821	50579821	Human	1	name , alternate_id
13819974	CV573424	single nucleotide variant	NM_005198.5(CHKB):c.581G>A (p.Arg194Gln)	Megaconial type congenital muscular dystrophy [RCV000694667]	conflicting interpretations of pathogenicity\|uncertain significance	22	50581420	50581420	Human	1	name , alternate_id
13801580	CV574153	single nucleotide variant	NM_005198.5(CHKB):c.970G>C (p.Glu324Gln)	Megaconial type congenital muscular dystrophy [RCV000697923]	uncertain significance	22	50579788	50579788	Human	1	name , alternate_id
14695902	CV622486	single nucleotide variant	NM_005198.5(CHKB):c.860A>C (p.Asp287Ala)	Congenital Muscular Dystrophy, CHKB-related [RCV000785119]\|Megaconial type congenital muscular dystrophy [RCV000785118]	uncertain significance	22	50580041	50580041	Human	1	name , trait , alternate_id
14695901	CV622487	single nucleotide variant	NM_005198.5(CHKB):c.382G>T (p.Glu128Ter)	Megaconial type congenital muscular dystrophy [RCV000785116]	pathogenic	22	50581814	50581814	Human	1	name , alternate_id
14725612	CV649550	single nucleotide variant	NM_005198.5(CHKB):c.941G>A (p.Arg314His)	Megaconial type congenital muscular dystrophy [RCV000815287]	uncertain significance	22	50579817	50579817	Human	1	name , alternate_id
14728624	CV649552	single nucleotide variant	NM_005198.5(CHKB):c.439T>G (p.Tyr147Asp)	Megaconial type congenital muscular dystrophy [RCV000816598]	uncertain significance	22	50581757	50581757	Human	1	name , alternate_id
26900926	CV849455	single nucleotide variant	NM_005198.5(CHKB):c.991C>G (p.Gln331Glu)	Megaconial type congenital muscular dystrophy [RCV001054644]	uncertain significance	22	50579767	50579767	Human	1	name , alternate_id
26900878	CV849456	single nucleotide variant	NM_005198.5(CHKB):c.961A>G (p.Lys321Glu)	Inborn genetic diseases [RCV002553343]\|Megaconial type congenital muscular dystrophy [RCV001054350]	uncertain significance	22	50579797	50579797	Human	2	name , alternate_id
26900792	CV849457	single nucleotide variant	NM_005198.5(CHKB):c.870C>A (p.His290Gln)	Megaconial type congenital muscular dystrophy [RCV001053935]	uncertain significance	22	50580031	50580031	Human	1	name , alternate_id
26902265	CV849459	single nucleotide variant	NM_005198.5(CHKB):c.428G>C (p.Arg143Pro)	Megaconial type congenital muscular dystrophy [RCV001063616]	uncertain significance	22	50581768	50581768	Human	1	name , alternate_id
28871689	CV891511	single nucleotide variant	NM_005198.5(CHKB):c.512T>C (p.Met171Thr)	Megaconial type congenital muscular dystrophy [RCV001145972]	uncertain significance	22	50581489	50581489	Human	1	name , alternate_id
38457215	CV919960	single nucleotide variant	NM_005198.5(CHKB):c.305T>C (p.Leu102Pro)	Megaconial type congenital muscular dystrophy [RCV001196865]	uncertain significance	22	50582277	50582277	Human	1	name , alternate_id
38492046	CV929511	single nucleotide variant	NM_005198.5(CHKB):c.709G>A (p.Val237Ile)	Megaconial type congenital muscular dystrophy [RCV001223274]	uncertain significance	22	50580385	50580385	Human	1	name , alternate_id
38457885	CV951532	single nucleotide variant	NM_005198.5(CHKB):c.905A>T (p.Asp302Val)	Inborn genetic diseases [RCV005318669]\|Megaconial type congenital muscular dystrophy [RCV001228746]	uncertain significance	22	50579996	50579996	Human	2	name , alternate_id
38497260	CV959131	single nucleotide variant	NM_005198.5(CHKB):c.673C>T (p.Leu225Phe)	Megaconial type congenital muscular dystrophy [RCV001243063]	likely benign\|uncertain significance	22	50580569	50580569	Human	1	name , alternate_id
38500046	CV959132	single nucleotide variant	NM_005198.5(CHKB):c.464C>T (p.Thr155Ile)	Megaconial type congenital muscular dystrophy [RCV001245361]	uncertain significance	22	50581537	50581537	Human	1	name , alternate_id
126745235	CV999542	single nucleotide variant	NM_005198.5(CHKB):c.714C>G (p.Phe238Leu)	Megaconial type congenital muscular dystrophy [RCV001305956]	uncertain significance	22	50580380	50580380	Human	1	name , alternate_id
126767249	CV999543	single nucleotide variant	NM_005198.5(CHKB):c.613A>G (p.Thr205Ala)	Megaconial type congenital muscular dystrophy [RCV001302210]	uncertain significance	22	50580629	50580629	Human	1	name , alternate_id
126760344	CV999544	single nucleotide variant	NM_005198.5(CHKB):c.580C>T (p.Arg194Trp)	Megaconial type congenital muscular dystrophy [RCV001299766]	uncertain significance	22	50581421	50581421	Human	1	name , alternate_id
126730933	CV999545	single nucleotide variant	NM_005198.5(CHKB):c.569G>A (p.Gly190Glu)	Inborn genetic diseases [RCV005318715]\|Megaconial type congenital muscular dystrophy [RCV001303817]	uncertain significance	22	50581432	50581432	Human	2	name , alternate_id
126725398	CV1018858	single nucleotide variant	NM_005198.5(CHKB):c.1064T>C (p.Leu355Pro)	Megaconial type congenital muscular dystrophy [RCV001331370]	uncertain significance	22	50579475	50579475	Human	1	name , alternate_id
126757567	CV1035273	single nucleotide variant	NM_005198.5(CHKB):c.1018G>C (p.Val340Leu)	Megaconial type congenital muscular dystrophy [RCV001339601]	uncertain significance	22	50579740	50579740	Human	1	name , alternate_id
127266500	CV1065072	single nucleotide variant	NM_005198.5(CHKB):c.1003G>T (p.Glu335Ter)	Megaconial type congenital muscular dystrophy [RCV001388730]	pathogenic	22	50579755	50579755	Human	1	name , alternate_id
151856542	CV1347702	single nucleotide variant	NM_005198.5(CHKB):c.1008A>T (p.Glu336Asp)	Megaconial type congenital muscular dystrophy [RCV001979594]	uncertain significance	22	50579750	50579750	Human	1	name , alternate_id
151758551	CV1510757	single nucleotide variant	NM_005198.5(CHKB):c.1114G>C (p.Asp372His)	Megaconial type congenital muscular dystrophy [RCV001948875]	uncertain significance	22	50579255	50579255	Human	1	name , alternate_id
151789682	CV1512652	single nucleotide variant	NM_005198.5(CHKB):c.1129C>G (p.Arg377Gly)	Megaconial type congenital muscular dystrophy [RCV001876390]	uncertain significance	22	50579240	50579240	Human	1	name , alternate_id
155717364	CV1780596	single nucleotide variant	NM_005198.5(CHKB):c.1030C>T (p.Arg344Trp)	Megaconial type congenital muscular dystrophy [RCV003099102]\|not provided [RCV002306201]	uncertain significance	22	50579728	50579728	Human	1	name , alternate_id
156374361	CV1933008	single nucleotide variant	NM_005198.5(CHKB):c.1012T>G (p.Leu338Val)	Megaconial type congenital muscular dystrophy [RCV002633696]	uncertain significance	22	50579746	50579746	Human	1	name , alternate_id
156120922	CV2052308	single nucleotide variant	NM_005198.5(CHKB):c.1088T>C (p.Met363Thr)	Megaconial type congenital muscular dystrophy [RCV002825294]	uncertain significance	22	50579451	50579451	Human	1	name , alternate_id
156369285	CV2109589	single nucleotide variant	NM_005198.5(CHKB):c.1157G>A (p.Gly386Glu)	Megaconial type congenital muscular dystrophy [RCV002942198]	uncertain significance	22	50579212	50579212	Human	1	name , alternate_id
155990577	CV2151259	single nucleotide variant	NM_005198.5(CHKB):c.1169G>A (p.Ser390Asn)	Megaconial type congenital muscular dystrophy [RCV003016807]	uncertain significance	22	50579200	50579200	Human	1	name , alternate_id
401898194	CV2790935	single nucleotide variant	NM_005198.5(CHKB):c.1147C>G (p.Gln383Glu)	Inborn genetic diseases [RCV003376346]	uncertain significance	22	50579222	50579222	Human	1	name
405661668	CV3297050	single nucleotide variant	NM_005198.5(CHKB):c.1133T>A (p.Phe378Tyr)	Inborn genetic diseases [RCV004439247]	uncertain significance	22	50579236	50579236	Human	1	name
597632098	CV3653121	single nucleotide variant	NM_005198.5(CHKB):c.1009G>A (p.Asp337Asn)	Inborn genetic diseases [RCV004967834]	uncertain significance	22	50579749	50579749	Human	1	name
13806039	CV572031	single nucleotide variant	NM_005198.5(CHKB):c.1006G>A (p.Glu336Lys)	Inborn genetic diseases [RCV005318489]\|Megaconial type congenital muscular dystrophy [RCV000700273]	uncertain significance	22	50579752	50579752	Human	2	name , alternate_id
14718796	CV649547	single nucleotide variant	NM_005198.5(CHKB):c.1111T>A (p.Leu371Met)	Megaconial type congenital muscular dystrophy [RCV000795908]	uncertain significance	22	50579428	50579428	Human	1	name , alternate_id
14726791	CV649548	single nucleotide variant	NM_005198.5(CHKB):c.1085C>T (p.Ser362Phe)	Megaconial type congenital muscular dystrophy [RCV000799350]	uncertain significance	22	50579454	50579454	Human	1	name , alternate_id
14701836	CV649549	single nucleotide variant	NM_005198.5(CHKB):c.1082C>T (p.Ala361Val)	Megaconial type congenital muscular dystrophy [RCV000806554]	uncertain significance	22	50579457	50579457	Human	1	name , alternate_id
14977989	CV677067	single nucleotide variant	NM_005198.5(CHKB):c.1129C>T (p.Arg377Trp)	Megaconial type congenital muscular dystrophy [RCV000850189]\|not provided [RCV005411586]	pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	22	50579240	50579240	Human	1	name , alternate_id
26899783	CV849452	single nucleotide variant	NM_005198.5(CHKB):c.1160A>C (p.Gln387Pro)	Megaconial type congenital muscular dystrophy [RCV001046787]	uncertain significance	22	50579209	50579209	Human	1	name , alternate_id
26900006	CV849453	single nucleotide variant	NM_005198.5(CHKB):c.1121C>T (p.Ala374Val)	Megaconial type congenital muscular dystrophy [RCV001047962]	uncertain significance	22	50579248	50579248	Human	1	name , alternate_id
26898639	CV849454	single nucleotide variant	NM_005198.5(CHKB):c.1052T>C (p.Phe351Ser)	Megaconial type congenital muscular dystrophy [RCV001038527]	uncertain significance	22	50579487	50579487	Human	1	name , alternate_id
28903494	CV891510	single nucleotide variant	NM_005198.5(CHKB):c.1037C>T (p.Ala346Val)	Megaconial type congenital muscular dystrophy [RCV001144071]	uncertain significance	22	50579502	50579502	Human	1	name , alternate_id
38499878	CV959129	single nucleotide variant	NM_005198.5(CHKB):c.1028G>A (p.Ser343Asn)	Megaconial type congenital muscular dystrophy [RCV001245205]	uncertain significance	22	50579730	50579730	Human	1	name , alternate_id
38493362	CV959130	single nucleotide variant	NM_005198.5(CHKB):c.1001T>C (p.Leu334Pro)	Megaconial type congenital muscular dystrophy [RCV001240639]	uncertain significance	22	50579757	50579757	Human	1	name , alternate_id
151716974	CV1470773	microsatellite	NM_005198.5(CHKB):c.964_967del (p.Lys322fs)	Megaconial type congenital muscular dystrophy [RCV001909114]	pathogenic	22	50579791	50579794	Human		name , alternate_id
152999891	CV1683438	deletion	NM_005198.5(CHKB):c.467_468del (p.Gln156fs)	See cases [RCV002252622]	likely pathogenic	22	50581533	50581534	Human		name
14693691	CV620697	deletion	NM_005198.5(CHKB):c.565_568del (p.Phe189fs)	Megaconial type congenital muscular dystrophy [RCV000779377]	pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	22	50581433	50581436	Human	1	name , alternate_id
151739380	CV1454802	insertion	NM_005198.5(CHKB):c.808_809insC (p.Tyr270fs)	Megaconial type congenital muscular dystrophy [RCV001946948]	pathogenic	22	50580199	50580200	Human	1	name , alternate_id
404977253	CV2849812	microsatellite	NM_005198.5(CHKB):c.1005AGA[1] (p.Glu336del)	Megaconial type congenital muscular dystrophy [RCV003486039]	uncertain significance	22	50579748	50579750	Human		name , alternate_id
151735229	CV1494224	deletion	NM_005198.5(CHKB):c.296_313del (p.Arg99_Arg104del)	Megaconial type congenital muscular dystrophy [RCV001984631]	uncertain significance	22	50582269	50582286	Human	1	name , alternate_id
126746922	CV1035272	deletion	NM_005198.5(CHKB):c.1056_1058del (p.Phe352_Trp353delinsLeu)	Megaconial type congenital muscular dystrophy [RCV001351595]	uncertain significance	22	50579481	50579483	Human	1	name , alternate_id
126773022	CV1022429	duplication	NC_000022.10:g.(?_51017600)_(51021220_?)dup	Megaconial type congenital muscular dystrophy [RCV001345948]	uncertain significance				Human	1	alternate_id
151235336	CV1318608	deletion	NM_000285.4(PEPD):c.825del (p.Phe275fs)	Megaconial type congenital muscular dystrophy [RCV004785314]\|Prolidase deficiency [RCV001794936]\|not provided [RCV002034648]	pathogenic\|likely pathogenic	19	33401863	33401863	Human	2	alternate_id
151807991	CV1483417	deletion	NC_000022.10:g.(?_50885571)_(51021210_?)del	Megaconial type congenital muscular dystrophy [RCV001918329]	pathogenic				Human	1	alternate_id
156445389	CV1943043	deletion	NC_000022.10:g.(?_51017610)_(51021210_?)del	Megaconial type congenital muscular dystrophy [RCV003116330]	pathogenic				Human	1	alternate_id
14704306	CV626288	deletion	NC_000022.11:g.50581441_50581449del	Megaconial type congenital muscular dystrophy [RCV000791028]	uncertain significance	22	50581439	50581447	Human	1	alternate_id
14701447	CV653607	deletion	NC_000022.11:g.(?_50579171)_(50582791_?)del	Megaconial type congenital muscular dystrophy [RCV000816621]	pathogenic	22	50579171	50582791	Human	1	alternate_id
26897731	CV821473	duplication	NC_000022.11:g.(?_50579171)_(50580670_?)dup	Megaconial type congenital muscular dystrophy [RCV001031835]	uncertain significance				Human	1	alternate_id

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