Mybpc1 Variant Search Result - Rat Genome Database

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406 records found for search term Mybpc1

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
11599945	CV315700	single nucleotide variant	NM_002465.4(MYBPC1):c.-93C>T	Arthrogryposis, distal, type 1B [RCV000269857]\|not provided [RCV001559687]	benign\|likely benign	12	101594978	101594978	Human	1	name
11600454	CV322599	single nucleotide variant	NM_002465.4(MYBPC1):c.-13T>C	Arthrogryposis, distal, type 1B [RCV000273808]	benign\|likely benign	12	101595058	101595058	Human	1	name
11607438	CV322677	single nucleotide variant	NM_002465.4(MYBPC1):c.*78G>A	Arthrogryposis, distal, type 1B [RCV000343360]\|Lethal congenital contracture syndrome 4 [RCV001775762]\|Myopathy, congenital, with tremor [RCV001775763]\|not provided [RCV001541549]\|not specified [RCV001529246]	benign	12	101685640	101685640	Human	3	name
11619611	CV328778	single nucleotide variant	NM_002465.4(MYBPC1):c.-75G>T	Arthrogryposis, distal, type 1B [RCV000327360]\|not provided [RCV001690016]	benign	12	101594996	101594996	Human	1	name
11622867	CV330006	single nucleotide variant	NM_002465.4(MYBPC1):c.-46C>T	Arthrogryposis, distal, type 1B [RCV000365641]\|not provided [RCV002305480]	benign\|likely benign	12	101595025	101595025	Human	1	name
11615740	CV330035	single nucleotide variant	NM_002465.4(MYBPC1):c.*45C>T	Arthrogryposis, distal, type 1B [RCV000288422]\|not provided [RCV001563107]	benign\|likely benign	12	101685607	101685607	Human	1	name
150444635	CV1278023	duplication	NM_002465.4(MYBPC1):c.*265dup	not provided [RCV001707166]	benign	12	101685811	101685812	Human		name
11550613	CV254377	single nucleotide variant	NM_002465.4(MYBPC1):c.26-9C>T	Arthrogryposis, distal, type 1B [RCV000395940]\|not provided [RCV000963708]\|not specified [RCV000251986]	benign\|likely benign	12	101614487	101614487	Human	1	name
11664134	CV315713	single nucleotide variant	NM_002465.4(MYBPC1):c.*144C>G	Arthrogryposis, distal, type 1B [RCV000402705]	uncertain significance	12	101685706	101685706	Human	1	name
405259009	CV3215267	single nucleotide variant	NM_002465.4(MYBPC1):c.*102C>T	MYBPC1-related disorder [RCV003942303]	likely benign	12	101685664	101685664	Human		name , trait , alternate_id
11652227	CV322680	duplication	NM_002465.4(MYBPC1):c.*246dup	Distal arthrogryposis [RCV000303624]	uncertain significance	12	101685806	101685807	Human	2	name
11664105	CV322691	single nucleotide variant	NM_002465.4(MYBPC1):c.*277T>C	Arthrogryposis, distal, type 1B [RCV000402459]	uncertain significance	12	101685839	101685839	Human	1	name
11603477	CV322692	single nucleotide variant	NM_002465.4(MYBPC1):c.*317C>A	Arthrogryposis, distal, type 1B [RCV000300359]	benign\|likely benign	12	101685879	101685879	Human	1	name
11659518	CV330036	duplication	NM_002465.4(MYBPC1):c.*266dup	Distal arthrogryposis [RCV000358607]	uncertain significance	12	101685827	101685828	Human	2	name
28870664	CV869051	single nucleotide variant	NM_002465.4(MYBPC1):c.*169G>T	Arthrogryposis, distal, type 1B [RCV001113667]\|not provided [RCV001585985]	benign\|likely benign	12	101685731	101685731	Human	1	name
150408115	CV1194591	single nucleotide variant	NM_002465.4(MYBPC1):c.25+49T>C	not provided [RCV001572535]	likely benign	12	101595144	101595144	Human		name
150469066	CV1268034	deletion	NM_002465.4(MYBPC1):c.26-57del	not provided [RCV001694897]	benign	12	101614439	101614439	Human		name
10403534	CV207930	single nucleotide variant	NM_002465.4(MYBPC1):c.608+9A>G	Arthrogryposis, distal, type 1B [RCV000312694]\|not provided [RCV000950445]\|not specified [RCV000192782]	benign\|likely benign	12	101634614	101634614	Human	1	name
401929582	CV2816776	single nucleotide variant	NM_002465.4(MYBPC1):c.666-6G>A	not provided [RCV003390284]	uncertain significance	12	101642413	101642413	Human		name
11611367	CV315712	single nucleotide variant	NM_002465.4(MYBPC1):c.*19+3A>G	Arthrogryposis, distal, type 1B [RCV000393683]\|not provided [RCV001653509]	benign\|likely benign	12	101684427	101684427	Human	1	name
405275756	CV3216072	single nucleotide variant	NM_002465.4(MYBPC1):c.608+6T>C	MYBPC1-related disorder [RCV003952329]	likely benign	12	101634611	101634611	Human		name , trait , alternate_id
11605277	CV322637	single nucleotide variant	NM_002465.4(MYBPC1):c.178+7G>A	Arthrogryposis, distal, type 1B [RCV000317923]\|MYBPC1-related disorder [RCV003910130]	benign\|likely benign\|uncertain significance	12	101627811	101627811	Human	1	name , trait , alternate_id
11602029	CV322641	single nucleotide variant	NM_002465.4(MYBPC1):c.556+9G>A	Arthrogryposis, distal, type 1B [RCV000287180]\|not provided [RCV000515008]	benign	12	101632147	101632147	Human	1	name
11623960	CV328780	single nucleotide variant	NM_002465.4(MYBPC1):c.438+9C>G	Arthrogryposis, distal, type 1B [RCV000379400]\|not provided [RCV000886866]	benign\|likely benign	12	101631728	101631728	Human	1	name
405866697	CV3401103	single nucleotide variant	NM_002465.4(MYBPC1):c.608+5C>T	Myopathy, congenital, with tremor [RCV004577219]	uncertain significance	12	101634610	101634610	Human	1	name
407514602	CV3454165	single nucleotide variant	NM_002465.4(MYBPC1):c.832+2T>A	Inborn genetic diseases [RCV004649570]	uncertain significance	12	101642587	101642587	Human	1	name
407505135	CV3496001	single nucleotide variant	NM_002465.4(MYBPC1):c.832+1G>C	not provided [RCV004697841]	likely pathogenic	12	101642586	101642586	Human		name
597834105	CV3735758	single nucleotide variant	NM_002465.4(MYBPC1):c.*20-2A>G	not provided [RCV005063621]	uncertain significance	12	101685580	101685580	Human		name
13213019	CV429341	single nucleotide variant	NM_002465.4(MYBPC1):c.103+5G>T	not specified [RCV000499514]	uncertain significance	12	101617248	101617248	Human		name
15191902	CV744602	single nucleotide variant	NM_002465.4(MYBPC1):c.665+8C>A	not provided [RCV000910382]	likely benign	12	101636736	101636736	Human		name
15191951	CV744703	single nucleotide variant	NM_002465.4(MYBPC1):c.665+9A>C	not provided [RCV000910396]	likely benign	12	101636737	101636737	Human		name
15129611	CV775893	single nucleotide variant	NM_002465.4(MYBPC1):c.665+8C>T	not provided [RCV000941913]	likely benign\|conflicting interpretations of pathogenicity	12	101636736	101636736	Human		name
150339959	CV1168253	deletion	NM_002465.4(MYBPC1):c.143-87del	not provided [RCV001534796]	likely benign	12	101627682	101627682	Human		name
150331165	CV1172326	single nucleotide variant	NM_002465.4(MYBPC1):c.62-240A>C	not provided [RCV001538521]	benign	12	101616962	101616962	Human		name
150415852	CV1180916	single nucleotide variant	NM_002465.4(MYBPC1):c.62-294G>T	not provided [RCV001549325]	likely benign	12	101616908	101616908	Human		name
150424251	CV1184610	single nucleotide variant	NM_002465.4(MYBPC1):c.104-61C>T	not provided [RCV001556416]	likely benign	12	101626811	101626811	Human		name
150419956	CV1194592	single nucleotide variant	NM_002465.4(MYBPC1):c.26-192A>G	not provided [RCV001569908]	likely benign	12	101614304	101614304	Human		name
150448075	CV1201982	single nucleotide variant	NM_002465.4(MYBPC1):c.62-227G>A	not provided [RCV001584851]	likely benign	12	101616975	101616975	Human		name
150448274	CV1202009	single nucleotide variant	NM_002465.4(MYBPC1):c.25+127C>T	not provided [RCV001584879]	likely benign	12	101595222	101595222	Human		name
150445438	CV1215493	single nucleotide variant	NM_002465.4(MYBPC1):c.965+53A>G	not provided [RCV001611086]	benign	12	101644849	101644849	Human		name
150515687	CV1216292	single nucleotide variant	NM_002465.4(MYBPC1):c.666-61C>T	not provided [RCV001608483]	benign	12	101642358	101642358	Human		name
150430731	CV1231025	single nucleotide variant	NM_002465.4(MYBPC1):c.62-165T>C	not provided [RCV001641574]	benign	12	101617037	101617037	Human		name
150490097	CV1239055	deletion	NM_002465.4(MYBPC1):c.289+70del	not provided [RCV001654623]	benign	12	101629614	101629614	Human		name
150430501	CV1243336	single nucleotide variant	NM_002465.4(MYBPC1):c.26-171T>A	not provided [RCV001662953]	benign	12	101614325	101614325	Human		name
150502533	CV1254556	single nucleotide variant	NM_002465.4(MYBPC1):c.965+32T>C	not provided [RCV001677258]	benign	12	101644828	101644828	Human		name
150466179	CV1277361	single nucleotide variant	NM_002465.4(MYBPC1):c.289+83C>T	not provided [RCV001710656]	benign	12	101629627	101629627	Human		name
150530184	CV1291490	single nucleotide variant	NM_002465.4(MYBPC1):c.103+17G>A	not provided [RCV001732786]	likely benign	12	101617260	101617260	Human		name
8660086	CV135092	single nucleotide variant	NM_002465.4(MYBPC1):c.556+10C>G	Arthrogryposis, distal, type 1B [RCV000344457]\|not provided [RCV001675622]\|not specified [RCV000117658]	benign\|likely benign\|conflicting interpretations of pathogenicity	12	101632148	101632148	Human	1	name
401963978	CV2843427	single nucleotide variant	NM_002465.4(MYBPC1):c.1526+5G>A	not specified [RCV003479769]	uncertain significance	12	101651398	101651398	Human		name
404980455	CV2850510	single nucleotide variant	NM_002465.4(MYBPC1):c.3433+5G>A	not provided [RCV003488068]	uncertain significance	12	101680534	101680534	Human		name
11608134	CV315702	single nucleotide variant	NM_002465.4(MYBPC1):c.608+14A>G	Arthrogryposis, distal, type 1B [RCV000351138]\|Arthrogryposis, distal, type 1B [RCV002504066]\|not provided [RCV001566226]	benign\|likely benign	12	101634619	101634619	Human	1	name
11621400	CV328793	single nucleotide variant	NM_002465.4(MYBPC1):c.557-10C>T	Arthrogryposis, distal, type 1B [RCV000348100]\|MYBPC1-related disorder [RCV003950040]	benign\|likely benign	12	101634544	101634544	Human	1	name , trait , alternate_id
15102212	CV760056	single nucleotide variant	NM_002465.4(MYBPC1):c.1526+6C>T	MYBPC1-related disorder [RCV004735887]\|not provided [RCV000914926]	benign\|likely benign	12	101651399	101651399	Human		name , trait , alternate_id
15151813	CV760129	single nucleotide variant	NM_002465.4(MYBPC1):c.1363+9G>T	not provided [RCV000923751]	likely benign	12	101649435	101649435	Human		name
28873628	CV872168	single nucleotide variant	NM_002465.4(MYBPC1):c.104-10C>A	Arthrogryposis, distal, type 1B [RCV001115101]	benign	12	101626862	101626862	Human	1	name
28873631	CV872169	single nucleotide variant	NM_002465.4(MYBPC1):c.142+10A>T	Arthrogryposis, distal, type 1B [RCV001115103]	uncertain significance	12	101626920	101626920	Human	1	name
28910790	CV872170	single nucleotide variant	NM_002465.4(MYBPC1):c.290-10C>T	Arthrogryposis, distal, type 1B [RCV001109466]	uncertain significance	12	101631561	101631561	Human	1	name
28910877	CV872171	single nucleotide variant	NM_002465.4(MYBPC1):c.2033-9T>A	Arthrogryposis, distal, type 1B [RCV001109577]	uncertain significance	12	101662349	101662349	Human	1	name
150332938	CV1169496	single nucleotide variant	NM_002465.4(MYBPC1):c.104-204T>C	not provided [RCV001537084]	benign	12	101626668	101626668	Human		name
150333982	CV1172328	single nucleotide variant	NM_002465.4(MYBPC1):c.2949+55G>C	not provided [RCV001539726]	benign	12	101675486	101675486	Human		name
150410121	CV1177529	single nucleotide variant	NM_002465.4(MYBPC1):c.1527-59G>C	not provided [RCV001546484]	likely benign	12	101652619	101652619	Human		name
150421893	CV1180917	single nucleotide variant	NM_002465.4(MYBPC1):c.179-328T>C	not provided [RCV001552222]	likely benign	12	101629106	101629106	Human		name
150426979	CV1187819	single nucleotide variant	NM_002465.4(MYBPC1):c.103+242C>T	not provided [RCV001560305]	likely benign	12	101617485	101617485	Human		name
150427697	CV1187820	single nucleotide variant	NM_002465.4(MYBPC1):c.289+260C>T	not provided [RCV001561275]	likely benign	12	101629804	101629804	Human		name
150415228	CV1191313	deletion	NM_002465.4(MYBPC1):c.289+342del	not provided [RCV001567890]	likely benign	12	101629874	101629874	Human		name
150405786	CV1191314	single nucleotide variant	NM_002465.4(MYBPC1):c.557-289T>C	not provided [RCV001564442]	likely benign	12	101634265	101634265	Human		name
150407549	CV1191316	single nucleotide variant	NM_002465.4(MYBPC1):c.1633+34G>A	not provided [RCV001565048]	likely benign	12	101652818	101652818	Human		name
150408216	CV1194593	single nucleotide variant	NM_002465.4(MYBPC1):c.966-143C>T	not provided [RCV001572566]	likely benign	12	101646620	101646620	Human		name
150404961	CV1194596	single nucleotide variant	NM_002465.4(MYBPC1):c.3433+50G>T	not provided [RCV001571411]	likely benign	12	101680579	101680579	Human		name
150440003	CV1201629	single nucleotide variant	NM_002465.4(MYBPC1):c.608+111T>C	not provided [RCV001583441]	likely benign	12	101634716	101634716	Human		name
150475490	CV1202251	single nucleotide variant	NM_002465.4(MYBPC1):c.2356+89G>A	not provided [RCV001589494]	likely benign	12	101663649	101663649	Human		name
150494675	CV1204873	single nucleotide variant	NM_002465.4(MYBPC1):c.608+211G>A	not provided [RCV001593365]	likely benign	12	101634816	101634816	Human		name
150495568	CV1205039	single nucleotide variant	NM_002465.4(MYBPC1):c.1927+70C>T	not provided [RCV001593531]	likely benign	12	101659901	101659901	Human		name
150453068	CV1205603	single nucleotide variant	NM_002465.4(MYBPC1):c.665+197G>A	not provided [RCV001585504]	likely benign	12	101636925	101636925	Human		name
150496437	CV1206081	single nucleotide variant	NM_002465.4(MYBPC1):c.103+296G>T	not provided [RCV001593763]	likely benign	12	101617539	101617539	Human		name
150478625	CV1207696	single nucleotide variant	NM_002465.4(MYBPC1):c.2524+30T>A	not provided [RCV001589972]	likely benign	12	101667929	101667929	Human		name
150510618	CV1211796	duplication	NM_002465.4(MYBPC1):c.1197-48dup	not provided [RCV001597692]	benign	12	101649207	101649208	Human		name
150463694	CV1214822	single nucleotide variant	NM_002465.4(MYBPC1):c.556+148T>C	not provided [RCV001613817]	benign	12	101632286	101632286	Human		name
150465887	CV1218096	single nucleotide variant	NM_002465.4(MYBPC1):c.2033-29A>T	not provided [RCV001614222]	benign	12	101662329	101662329	Human		name
150466049	CV1218124	single nucleotide variant	NM_002465.4(MYBPC1):c.2222-38T>C	Arthrogryposis, distal, type 1B [RCV001776258]\|Lethal congenital contracture syndrome 4 [RCV001776259]\|Myopathy, congenital, with tremor [RCV001776260]\|not provided [RCV001614250]	benign	12	101663388	101663388	Human	3	name
150436856	CV1220619	single nucleotide variant	NM_002465.4(MYBPC1):c.2525-41C>T	not provided [RCV001609603]	benign	12	101670280	101670280	Human		name
150495551	CV1225103	single nucleotide variant	NM_002465.4(MYBPC1):c.966-123A>G	not provided [RCV001619581]	benign	12	101646640	101646640	Human		name
150513509	CV1229033	single nucleotide variant	NM_002465.4(MYBPC1):c.1363+97G>A	not provided [RCV001637875]	benign	12	101649523	101649523	Human		name
150430589	CV1230955	single nucleotide variant	NM_002465.4(MYBPC1):c.3434-48G>A	not provided [RCV001641504]	benign	12	101682556	101682556	Human		name
150444955	CV1233094	single nucleotide variant	NM_002465.4(MYBPC1):c.142+122G>A	not provided [RCV001645767]	benign	12	101627032	101627032	Human		name
150436208	CV1234025	single nucleotide variant	NM_002465.4(MYBPC1):c.966-314A>G	not provided [RCV001644152]	benign	12	101646449	101646449	Human		name
150436884	CV1234139	single nucleotide variant	NM_002465.4(MYBPC1):c.1927+66C>T	not provided [RCV001644266]	benign	12	101659897	101659897	Human		name
150463935	CV1237704	single nucleotide variant	NM_002465.4(MYBPC1):c.1527-62C>T	not provided [RCV001649710]	benign	12	101652616	101652616	Human		name
150431195	CV1243615	single nucleotide variant	NM_002465.4(MYBPC1):c.966-287T>C	not provided [RCV001663235]	benign	12	101646476	101646476	Human		name
150434513	CV1243969	single nucleotide variant	NM_002465.4(MYBPC1):c.1526+78G>A	not provided [RCV001665176]	likely benign	12	101651471	101651471	Human		name
150481889	CV1244181	single nucleotide variant	NM_002465.4(MYBPC1):c.179-112G>A	not provided [RCV001653027]	likely benign	12	101629322	101629322	Human		name
150482357	CV1244264	single nucleotide variant	NM_002465.4(MYBPC1):c.439-143G>T	not provided [RCV001653111]	likely benign	12	101631878	101631878	Human		name
150507535	CV1244590	single nucleotide variant	NM_002465.4(MYBPC1):c.832+105G>A	not provided [RCV001658839]	likely benign	12	101642690	101642690	Human		name
150508123	CV1244745	deletion	NM_002465.4(MYBPC1):c.2033-93del	not provided [RCV001658994]	likely benign	12	101662265	101662265	Human		name
150482827	CV1245009	duplication	NM_002465.4(MYBPC1):c.1196+46dup	not provided [RCV001653186]	benign	12	101648189	101648190	Human		name
150445580	CV1248326	single nucleotide variant	NM_002465.4(MYBPC1):c.1928-57T>C	not provided [RCV001667033]	benign	12	101661101	101661101	Human		name
150478373	CV1257136	single nucleotide variant	NM_002465.4(MYBPC1):c.1091-66A>G	not provided [RCV001672366]	benign	12	101647979	101647979	Human		name
150473894	CV1262978	single nucleotide variant	NM_002465.4(MYBPC1):c.104-162A>T	not provided [RCV001684794]	benign	12	101626710	101626710	Human		name
150484190	CV1263125	single nucleotide variant	NM_002465.4(MYBPC1):c.966-194G>A	not provided [RCV001686525]	benign	12	101646569	101646569	Human		name
150444666	CV1266563	single nucleotide variant	NM_002465.4(MYBPC1):c.1364-97C>T	not provided [RCV001691000]	benign	12	101651134	101651134	Human	1	name
150444666	CV1266563	single nucleotide variant	NM_002465.4(MYBPC1):c.1364-97C>T	not provided [RCV001691000]	benign	12	101651134	101651135	Human	1	name
150439563	CV1266790	single nucleotide variant	NM_002465.4(MYBPC1):c.3492+39C>T	Arthrogryposis, distal, type 1B [RCV001776286]\|Lethal congenital contracture syndrome 4 [RCV001776287]\|Myopathy, congenital, with tremor [RCV001776288]\|not provided [RCV001690225]	benign	12	101682701	101682701	Human	3	name
150490312	CV1267588	single nucleotide variant	NM_002465.4(MYBPC1):c.1526+60C>T	not provided [RCV001687612]	benign	12	101651453	101651453	Human		name
150467555	CV1269251	single nucleotide variant	NM_002465.4(MYBPC1):c.1633+33T>C	Arthrogryposis, distal, type 1B [RCV001776291]\|Lethal congenital contracture syndrome 4 [RCV001776292]\|Myopathy, congenital, with tremor [RCV001776293]\|not provided [RCV001694659]	benign	12	101652817	101652817	Human	3	name
150454548	CV1277022	single nucleotide variant	NM_002465.4(MYBPC1):c.3493-66G>C	not provided [RCV001708813]	benign	12	101684316	101684316	Human		name
150477432	CV1279446	single nucleotide variant	NM_002465.4(MYBPC1):c.2221+61C>G	not provided [RCV001714131]	benign	12	101662607	101662607	Human		name
150497611	CV1281462	single nucleotide variant	NM_002465.4(MYBPC1):c.1928-93A>G	not provided [RCV001717879]	benign	12	101661065	101661065	Human		name
150508409	CV1284274	single nucleotide variant	NM_002465.4(MYBPC1):c.1363+61C>T	not provided [RCV001720382]	benign	12	101649487	101649487	Human		name
150531462	CV1291219	single nucleotide variant	NM_002465.4(MYBPC1):c.2033-20T>G	not provided [RCV001733083]	likely benign	12	101662338	101662338	Human		name
11550155	CV254381	deletion	NM_002465.4(MYBPC1):c.1634-18del	Arthrogryposis, distal, type 1B [RCV001775714]\|Lethal congenital contracture syndrome 4 [RCV001775715]\|Myopathy, congenital, with tremor [RCV001775716]\|not provided [RCV001689835]\|not specified [RCV000251369]	benign	12	101653097	101653097	Human	3	name
11550369	CV254382	single nucleotide variant	NM_002465.4(MYBPC1):c.1928-19T>G	not provided [RCV001558783]\|not specified [RCV000251667]	benign\|likely benign	12	101661139	101661139	Human		name
11544584	CV254383	single nucleotide variant	NM_002465.4(MYBPC1):c.2809+12T>C	Arthrogryposis, distal, type 1B [RCV000295937]\|not provided [RCV001668480]\|not specified [RCV000243985]	benign	12	101673634	101673634	Human	1	name
13462860	CV438691	single nucleotide variant	NM_002465.4(MYBPC1):c.1363+18A>G	not provided [RCV000514968]	likely benign	12	101649444	101649444	Human		name
150336302	CV1165044	duplication	NM_002465.4(MYBPC1):c.1927+301dup	not provided [RCV001530783]	benign	12	101660131	101660132	Human		name
150339864	CV1168254	single nucleotide variant	NM_002465.4(MYBPC1):c.3246+158C>T	not provided [RCV001534683]	likely benign	12	101678396	101678396	Human		name
150332876	CV1172327	single nucleotide variant	NM_002465.4(MYBPC1):c.2222-329G>A	not provided [RCV001539210]	benign	12	101663097	101663097	Human		name
150333070	CV1172329	single nucleotide variant	NM_002465.4(MYBPC1):c.3492+289C>T	not provided [RCV001539301]	likely benign	12	101682951	101682951	Human		name
150411105	CV1177531	single nucleotide variant	NM_002465.4(MYBPC1):c.2357-695T>A	not provided [RCV001546986]	likely benign	12	101667037	101667037	Human		name
150412658	CV1177532	single nucleotide variant	NM_002465.4(MYBPC1):c.2810-285C>T	not provided [RCV001547574]	likely benign	12	101675007	101675007	Human	3	name
150412658	CV1177532	single nucleotide variant	NM_002465.4(MYBPC1):c.2810-285C>T	not provided [RCV001547574]	likely benign	12	101675007	101675008	Human	3	name
150417104	CV1180918	single nucleotide variant	NM_002465.4(MYBPC1):c.1197-144C>T	not provided [RCV001549971]	likely benign	12	101649116	101649116	Human		name
150416199	CV1180919	single nucleotide variant	NM_002465.4(MYBPC1):c.3433+209G>A	not provided [RCV001549484]	likely benign	12	101680738	101680738	Human		name
150425034	CV1184612	single nucleotide variant	NM_002465.4(MYBPC1):c.2809+217G>A	not provided [RCV001557470]	likely benign	12	101673839	101673839	Human		name
150428445	CV1187821	single nucleotide variant	NM_002465.4(MYBPC1):c.2356+197G>C	not provided [RCV001562278]	likely benign	12	101663757	101663757	Human		name
150414505	CV1191315	single nucleotide variant	NM_002465.4(MYBPC1):c.1363+297T>C	not provided [RCV001567564]	likely benign	12	101649723	101649723	Human		name
150408294	CV1194594	single nucleotide variant	NM_002465.4(MYBPC1):c.2614-160T>A	not provided [RCV001572587]	likely benign	12	101673267	101673267	Human		name
150417859	CV1194595	single nucleotide variant	NM_002465.4(MYBPC1):c.2949+289A>C	not provided [RCV001568955]	likely benign	12	101675720	101675720	Human		name
150416220	CV1198286	single nucleotide variant	NM_002465.4(MYBPC1):c.1928-141A>G	not provided [RCV001575733]	likely benign	12	101661017	101661017	Human		name
150416400	CV1198288	single nucleotide variant	NM_002465.4(MYBPC1):c.2809+283T>G	not provided [RCV001575835]	likely benign	12	101673905	101673905	Human		name
150420446	CV1198289	single nucleotide variant	NM_002465.4(MYBPC1):c.3246+233A>T	not provided [RCV001577614]	likely benign	12	101678471	101678471	Human		name
150433398	CV1203661	single nucleotide variant	NM_002465.4(MYBPC1):c.1526+204A>C	not provided [RCV001581817]	likely benign	12	101651597	101651597	Human		name
150514033	CV1210825	single nucleotide variant	NM_002465.4(MYBPC1):c.2949+209C>T	not provided [RCV001598866]	benign	12	101675640	101675640	Human		name
150513402	CV1211919	single nucleotide variant	NM_002465.4(MYBPC1):c.1633+114T>C	not provided [RCV001598440]	benign	12	101652898	101652898	Human		name
150504288	CV1212653	single nucleotide variant	NM_002465.4(MYBPC1):c.2950-258A>C	not provided [RCV001595528]	benign	12	101676977	101676977	Human		name
150511595	CV1212786	single nucleotide variant	NM_002465.4(MYBPC1):c.3434-183G>A	not provided [RCV001598018]	benign	12	101682421	101682421	Human		name
150444823	CV1215389	single nucleotide variant	NM_002465.4(MYBPC1):c.2357-655C>T	not provided [RCV001610982]	benign	12	101667077	101667077	Human		name
150441195	CV1220280	single nucleotide variant	NM_002465.4(MYBPC1):c.1928-185G>A	not provided [RCV001610264]	benign	12	101660973	101660973	Human		name
150440017	CV1221390	single nucleotide variant	NM_002465.4(MYBPC1):c.1928-326G>A	not provided [RCV001610085]	benign	12	101660832	101660832	Human		name
150505319	CV1222862	single nucleotide variant	NM_002465.4(MYBPC1):c.1363+145T>A	not provided [RCV001621796]	benign	12	101649571	101649571	Human		name
150493252	CV1225629	single nucleotide variant	NM_002465.4(MYBPC1):c.2033-298C>T	not provided [RCV001619145]	benign	12	101662060	101662060	Human		name
150517203	CV1226651	single nucleotide variant	NM_002465.4(MYBPC1):c.2222-203C>A	not provided [RCV001639745]	benign	12	101663223	101663223	Human		name
150516488	CV1227089	single nucleotide variant	NM_002465.4(MYBPC1):c.1527-285C>T	not provided [RCV001639187]	benign	12	101652393	101652393	Human		name
150514724	CV1228610	single nucleotide variant	NM_002465.4(MYBPC1):c.1196+285C>G	not provided [RCV001638598]	benign	12	101648435	101648435	Human		name
150434448	CV1230790	single nucleotide variant	NM_002465.4(MYBPC1):c.3433+272T>C	not provided [RCV001643737]	benign	12	101680801	101680801	Human		name
150450539	CV1232692	single nucleotide variant	NM_002465.4(MYBPC1):c.1363+247A>G	not provided [RCV001647767]	benign	12	101649673	101649673	Human		name
150497778	CV1236416	single nucleotide variant	NM_002465.4(MYBPC1):c.1927+146T>C	not provided [RCV001656141]	benign	12	101659977	101659977	Human		name
150431808	CV1236540	single nucleotide variant	NM_002465.4(MYBPC1):c.2524+198A>C	not provided [RCV001641944]	benign	12	101668097	101668097	Human		name
150488393	CV1237473	single nucleotide variant	NM_002465.4(MYBPC1):c.1928-124C>T	not provided [RCV001654322]	benign	12	101661034	101661034	Human		name
150437698	CV1237912	single nucleotide variant	NM_002465.4(MYBPC1):c.3433+114G>T	not provided [RCV001644410]	benign	12	101680643	101680643	Human		name
150501579	CV1238433	single nucleotide variant	NM_002465.4(MYBPC1):c.1363+202G>A	not provided [RCV001656863]	benign	12	101649628	101649628	Human		name
150480507	CV1239593	single nucleotide variant	NM_002465.4(MYBPC1):c.3247-195G>A	not provided [RCV001652756]	benign	12	101680148	101680148	Human		name
150502392	CV1241238	single nucleotide variant	NM_002465.4(MYBPC1):c.1526+127C>T	not provided [RCV001657134]	benign	12	101651520	101651520	Human		name
150468932	CV1243075	single nucleotide variant	NM_002465.4(MYBPC1):c.2357-802T>C	not provided [RCV001650593]	benign	12	101666930	101666930	Human		name
150435494	CV1244424	single nucleotide variant	NM_002465.4(MYBPC1):c.2810-123A>G	not provided [RCV001665415]	likely benign	12	101675169	101675169	Human		name
150507935	CV1244690	single nucleotide variant	NM_002465.4(MYBPC1):c.1090+202A>T	not provided [RCV001658939]	likely benign	12	101647089	101647089	Human		name
150482600	CV1247480	single nucleotide variant	NM_002465.4(MYBPC1):c.2357-832C>T	not provided [RCV001673306]	benign	12	101666900	101666900	Human		name
150509860	CV1248395	single nucleotide variant	NM_002465.4(MYBPC1):c.1196+182C>T	not provided [RCV001659463]	benign	12	101648332	101648332	Human		name
150474448	CV1251280	single nucleotide variant	NM_002465.4(MYBPC1):c.2524+293C>A	not provided [RCV001671774]	benign	12	101668192	101668192	Human		name
150449186	CV1253652	single nucleotide variant	NM_002465.4(MYBPC1):c.2357-651C>T	not provided [RCV001667580]	benign	12	101667081	101667081	Human		name
150452386	CV1254957	single nucleotide variant	NM_002465.4(MYBPC1):c.1197-231C>T	not provided [RCV001668016]	benign	12	101649029	101649029	Human		name
150503550	CV1257818	single nucleotide variant	NM_002465.4(MYBPC1):c.3433+135A>G	not provided [RCV001677506]	benign	12	101680664	101680664	Human		name
150506916	CV1258086	single nucleotide variant	NM_002465.4(MYBPC1):c.2613+197A>G	not provided [RCV001678303]	benign	12	101670606	101670606	Human		name
150484792	CV1263252	single nucleotide variant	NM_002465.4(MYBPC1):c.2614-283C>A	not provided [RCV001686652]	benign	12	101673144	101673144	Human		name
150470756	CV1269917	single nucleotide variant	NM_002465.4(MYBPC1):c.2613+210T>C	not provided [RCV001695204]	benign	12	101670619	101670619	Human		name
150475768	CV1271239	single nucleotide variant	NM_002465.4(MYBPC1):c.3110-161G>A	not provided [RCV001696062]	benign	12	101677941	101677941	Human		name
150477706	CV1272086	single nucleotide variant	NM_002465.4(MYBPC1):c.1090+294T>C	not provided [RCV001696372]	benign	12	101647181	101647181	Human		name
150472596	CV1272515	single nucleotide variant	NM_002465.4(MYBPC1):c.1927+144C>G	not provided [RCV001695571]	benign	12	101659975	101659975	Human		name
150479259	CV1273437	single nucleotide variant	NM_002465.4(MYBPC1):c.2356+251G>A	not provided [RCV001696641]	benign	12	101663811	101663811	Human		name
150464774	CV1276471	duplication	NM_002465.4(MYBPC1):c.1767+247dup	not provided [RCV001710417]	benign	12	101653490	101653491	Human		name
150445939	CV1278236	single nucleotide variant	NM_002465.4(MYBPC1):c.2950-142A>T	not provided [RCV001707379]	benign	12	101677093	101677093	Human		name
150483456	CV1280212	single nucleotide variant	NM_002465.4(MYBPC1):c.2357-834C>T	not provided [RCV001715191]	benign	12	101666898	101666898	Human		name
150508413	CV1284275	single nucleotide variant	NM_002465.4(MYBPC1):c.3109+118T>G	not provided [RCV001720383]	benign	12	101677512	101677512	Human		name
401929584	CV2816780	single nucleotide variant	NM_002465.4(MYBPC1):c.2357-979C>A	not provided [RCV003390285]	uncertain significance	12	101666753	101666753	Human		name
150422258	CV1180920	duplication	NM_002465.4(MYBPC1):c.264_265dup	not provided [RCV001552456]	likely benign	12	101685811	101685812	Human		name
150438794	CV1247225	single nucleotide variant	NM_002465.4(MYBPC1):c.2357-1135G>A	not provided [RCV001665995]	benign	12	101666597	101666597	Human		name
150485665	CV1223047	microsatellite	NM_002465.4(MYBPC1):c.1527-152CT[9]	not provided [RCV001617760]	benign	12	101652526	101652527	Human		name
150430921	CV1231095	microsatellite	NM_002465.4(MYBPC1):c.2357-801AC[7]	not provided [RCV001641644]	benign	12	101666930	101666931	Human		name
401913285	CV2830302	microsatellite	NM_002465.4(MYBPC1):c.2357-801AC[5]	not provided [RCV003441517]	likely benign	12	101666931	101666932	Human		name
150424219	CV1184611	microsatellite	NM_002465.4(MYBPC1):c.1527-152CT[12]	not provided [RCV001556374]	likely benign	12	101652525	101652526	Human		name
150428361	CV1187822	microsatellite	NM_002465.4(MYBPC1):c.2525-197CA[21]	not provided [RCV001562162]	likely benign	12	101670123	101670124	Human		name
150514523	CV1228544	microsatellite	NM_002465.4(MYBPC1):c.2525-197CA[20]	not provided [RCV001638532]	benign	12	101670123	101670124	Human		name
150470675	CV1248044	microsatellite	NM_002465.4(MYBPC1):c.2525-197CA[19]	not provided [RCV001671080]	benign	12	101670123	101670124	Human		name
150457419	CV1248781	microsatellite	NM_002465.4(MYBPC1):c.2525-197CA[18]	not provided [RCV001668957]	benign	12	101670123	101670124	Human		name
150493337	CV1257534	microsatellite	NM_002465.4(MYBPC1):c.1527-152CT[11]	not provided [RCV001675207]	benign	12	101652525	101652526	Human		name
150455700	CV1259904	microsatellite	NM_002465.4(MYBPC1):c.2525-197CA[15]	not provided [RCV001681383]	benign	12	101670124	101670125	Human		name
150484438	CV1263178	microsatellite	NM_002465.4(MYBPC1):c.2525-197CA[17]	not provided [RCV001686578]	benign	12	101670123	101670124	Human		name
150479132	CV1221454	deletion	NM_002465.4(MYBPC1):c.26-171_26-166del	not provided [RCV001616533]	benign	12	101614324	101614329	Human		name
150470716	CV1248055	deletion	NM_002465.4(MYBPC1):c.289+73_289+88del	not provided [RCV001671091]	benign	12	101629617	101629632	Human		name
11542884	CV254378	deletion	NM_002465.4(MYBPC1):c.179-20_179-12del	not provided [RCV001640522]\|not specified [RCV000241728]	benign	12	101629408	101629416	Human		name
616939343	CV4015674	duplication	NM_002465.4(MYBPC1):c.2950-3_3109+2dup	not provided [RCV005413186]	uncertain significance	12	101677230	101677231	Human		name
15126418	CV738380	single nucleotide variant	NM_002465.4(MYBPC1):c.84C>T (p.Ala28=)	not provided [RCV000896930]	benign	12	101617224	101617224	Human		name
10408233	CV207928	single nucleotide variant	NM_002465.4(MYBPC1):c.129C>T (p.Ser43=)	Arthrogryposis, distal, type 1B [RCV001115102]\|not provided [RCV000889086]\|not specified [RCV000192525]	benign\|likely benign\|uncertain significance	12	101626897	101626897	Human	1	name
156262637	CV2319800	single nucleotide variant	NM_002465.4(MYBPC1):c.10C>G (p.Pro4Ala)	Inborn genetic diseases [RCV002959844]	uncertain significance	12	101595080	101595080	Human	1	name
11619932	CV330008	single nucleotide variant	NM_002465.4(MYBPC1):c.17A>T (p.Lys6Met)	Arthrogryposis, distal, type 1B [RCV000331231]\|MYBPC1-related disorder [RCV003977891]	benign\|likely benign	12	101595087	101595087	Human	1	name , trait , alternate_id
11623630	CV330012	single nucleotide variant	NM_002465.4(MYBPC1):c.192C>T (p.Val64=)	Arthrogryposis, distal, type 1B [RCV000374995]\|not provided [RCV000962275]	benign\|likely benign\|uncertain significance	12	101629447	101629447	Human	1	name
597664211	CV3558142	single nucleotide variant	NM_002465.4(MYBPC1):c.11C>T (p.Pro4Leu)	Inborn genetic diseases [RCV004947267]	uncertain significance	12	101595081	101595081	Human	1	name
151349308	CV1170273	deletion	NM_002465.4(MYBPC1):c.122del (p.Pro41fs)	Abnormality of the musculature [RCV001814512]	likely pathogenic	12	101626887	101626887	Human	1	name
150430177	CV1218336	deletion	NM_002465.4(MYBPC1):c.288del (p.Gly97fs)	Arthrogryposis, distal, type 1B [RCV001614462]	uncertain significance	12	101629542	101629542	Human	1	name
150535391	CV1300427	insertion	NM_002465.4(MYBPC1):c.26-172_26-171insAG	not provided [RCV001758555]	likely benign	12	101614323	101614324	Human		name
8660087	CV135093	single nucleotide variant	NM_002465.4(MYBPC1):c.774C>T (p.Asp258=)	Arthrogryposis, distal, type 1B [RCV000301296]\|Lethal congenital contracture syndrome 4 [RCV001775592]\|Myopathy, congenital, with tremor [RCV001775593]\|not provided [RCV001668249]\|not specified [RCV000117659]	benign	12	101642527	101642527	Human	3	name
10404230	CV207929	single nucleotide variant	NM_002465.4(MYBPC1):c.594T>C (p.Ser198=)	Arthrogryposis, distal, type 1B [RCV000405657]\|Arthrogryposis, distal, type 1B [RCV002500591]\|MYBPC1-related disorder [RCV003937698]\|not provided [RCV000957107]\|not specified [RCV000194554]	benign\|likely benign	12	101634591	101634591	Human	3	name , trait , alternate_id
11552019	CV254380	single nucleotide variant	NM_002465.4(MYBPC1):c.420C>T (p.Thr140=)	Arthrogryposis, distal, type 1B [RCV000322440]\|not provided [RCV000964517]\|not specified [RCV000253818]	benign\|likely benign	12	101631701	101631701	Human	1	name
404980463	CV2850512	single nucleotide variant	NM_002465.4(MYBPC1):c.59A>C (p.Glu20Ala)	not provided [RCV003488070]	uncertain significance	12	101614529	101614529	Human		name
11608428	CV322655	single nucleotide variant	NM_002465.4(MYBPC1):c.675G>A (p.Lys225=)	Arthrogryposis, distal, type 1B [RCV000354807]	uncertain significance	12	101642428	101642428	Human	1	name
11612803	CV328794	single nucleotide variant	NM_002465.4(MYBPC1):c.750C>A (p.Ile250=)	Arthrogryposis, distal, type 1B [RCV000262547]	benign\|likely benign	12	101642503	101642503	Human	1	name
11645209	CV330015	single nucleotide variant	NM_002465.4(MYBPC1):c.309A>T (p.Ile103=)	Arthrogryposis, distal, type 1B [RCV000264050]	uncertain significance	12	101631590	101631590	Human	1	name
405715393	CV3309174	single nucleotide variant	NM_002465.4(MYBPC1):c.44C>T (p.Pro15Leu)	Inborn genetic diseases [RCV004449113]	uncertain significance	12	101614514	101614514	Human	1	name
15172766	CV738382	single nucleotide variant	NM_002465.4(MYBPC1):c.759G>A (p.Gln253=)	not provided [RCV000905733]	likely benign	12	101642512	101642512	Human		name
25317054	CV805021	single nucleotide variant	NM_002465.4(MYBPC1):c.32A>G (p.Glu11Gly)	Lethal congenital contracture syndrome 4 [RCV001007804]	uncertain significance	12	101614502	101614502	Human	1	name
8634456	CV89676	single nucleotide variant	NM_002465.3(MYBPC1):c.300C>T (p.Ile100=)	Malignant melanoma [RCV000069773]	not provided	12	101631581	101631581	Human		name
8660081	CV135087	single nucleotide variant	NM_002465.4(MYBPC1):c.1386A>T (p.Thr462=)	Arthrogryposis, distal, type 1B [RCV000327273]\|not provided [RCV001596967]\|not specified [RCV000117653]	benign	12	101651253	101651253	Human	1	name
8660083	CV135089	single nucleotide variant	NM_002465.4(MYBPC1):c.2010C>T (p.Tyr670=)	Arthrogryposis, distal, type 1B [RCV001113584]\|not provided [RCV000881388]\|not specified [RCV000117655]	benign\|likely benign	12	101661240	101661240	Human	1	name
8660084	CV135090	single nucleotide variant	NM_002465.4(MYBPC1):c.2544T>C (p.Ile848=)	Arthrogryposis, distal, type 1B [RCV000316999]\|Lethal congenital contracture syndrome 4 [RCV001775588]\|Myopathy, congenital, with tremor [RCV001775589]\|not provided [RCV001689648]\|not specified [RCV000117656]	benign	12	101670340	101670340	Human	3	name
8660085	CV135091	single nucleotide variant	NM_002465.4(MYBPC1):c.2817A>G (p.Pro939=)	Arthrogryposis, distal, type 1B [RCV000332149]\|Lethal congenital contracture syndrome 4 [RCV001775590]\|Myopathy, congenital, with tremor [RCV001775591]\|not provided [RCV001610415]\|not specified [RCV000117657]	benign	12	101675299	101675299	Human	3	name
152031664	CV1670539	single nucleotide variant	NM_002465.4(MYBPC1):c.1053C>T (p.Ala351=)	Inborn genetic diseases [RCV005382397]\|MYBPC1-related disorder [RCV003903620]\|not provided [RCV002226059]	likely benign	12	101646850	101646850	Human	1	name , trait , alternate_id
155641404	CV1709768	single nucleotide variant	NM_002465.4(MYBPC1):c.1908C>T (p.Ser636=)	not provided [RCV002292868]	likely benign	12	101659812	101659812	Human		name
155991416	CV2384231	single nucleotide variant	NM_002465.4(MYBPC1):c.155G>A (p.Arg52Gln)	Inborn genetic diseases [RCV002733344]\|not provided [RCV003491305]	uncertain significance	12	101627781	101627781	Human	1	name
243054397	CV2410419	single nucleotide variant	NM_002465.4(MYBPC1):c.272G>A (p.Gly91Glu)	not provided [RCV003131622]	uncertain significance	12	101629527	101629527	Human		name
243056232	CV2410424	single nucleotide variant	NM_002465.4(MYBPC1):c.217G>A (p.Ala73Thr)	Inborn genetic diseases [RCV003164828]\|not provided [RCV003132728]	uncertain significance	12	101629472	101629472	Human	1	name
11546631	CV254379	single nucleotide variant	NM_002465.4(MYBPC1):c.191T>C (p.Val64Ala)	Arthrogryposis, distal, type 1B [RCV001115104]\|not provided [RCV000965969]\|not specified [RCV000246713]	benign	12	101629446	101629446	Human	1	name
329955291	CV2671235	single nucleotide variant	NM_002465.4(MYBPC1):c.283A>G (p.Lys95Glu)	not specified [RCV003236511]	uncertain significance	12	101629538	101629538	Human		name
401932304	CV2816777	single nucleotide variant	NM_002465.4(MYBPC1):c.1026A>G (p.Thr342=)	not provided [RCV003391957]	likely benign	12	101646823	101646823	Human		name
404980446	CV2850508	single nucleotide variant	NM_002465.4(MYBPC1):c.154C>T (p.Arg52Trp)	not provided [RCV003488066]	uncertain significance	12	101627780	101627780	Human		name
404980450	CV2850509	single nucleotide variant	NM_002465.4(MYBPC1):c.143G>T (p.Gly48Val)	not provided [RCV003488067]	uncertain significance	12	101627769	101627769	Human		name
405293959	CV3203324	single nucleotide variant	NM_002465.4(MYBPC1):c.1725C>T (p.Ser575=)	MYBPC1-related disorder [RCV003933880]	likely benign	12	101653206	101653206	Human		name , trait , alternate_id
11610947	CV322661	single nucleotide variant	NM_002465.4(MYBPC1):c.1651C>T (p.Leu551=)	Arthrogryposis, distal, type 1B [RCV000388058]	benign\|likely benign	12	101653132	101653132	Human	1	name
11654784	CV322664	single nucleotide variant	NM_002465.4(MYBPC1):c.2439C>T (p.Ile813=)	Arthrogryposis, distal, type 1B [RCV000320636]	uncertain significance	12	101667814	101667814	Human	1	name
11608557	CV322666	single nucleotide variant	NM_002465.4(MYBPC1):c.2508C>T (p.Leu836=)	Arthrogryposis, distal, type 1B [RCV000356713]	benign\|uncertain significance	12	101667883	101667883	Human	1	name
11625024	CV328821	single nucleotide variant	NM_002465.4(MYBPC1):c.2124G>A (p.Lys708=)	Arthrogryposis, distal, type 1B [RCV000393326]	likely benign\|uncertain significance	12	101662449	101662449	Human	1	name
11613137	CV328830	single nucleotide variant	NM_002465.4(MYBPC1):c.2320T>C (p.Leu774=)	Arthrogryposis, distal, type 1B [RCV000265563]\|not provided [RCV000883135]	benign\|likely benign\|uncertain significance	12	101663524	101663524	Human	1	name
11612559	CV330009	single nucleotide variant	NM_002465.4(MYBPC1):c.122C>T (p.Pro41Leu)	Distal arthrogryposis [RCV000260436]	likely benign	12	101626890	101626890	Human	2	name
11622435	CV330021	single nucleotide variant	NM_002465.4(MYBPC1):c.2013C>T (p.Asp671=)	Arthrogryposis, distal, type 1B [RCV000360434]\|not provided [RCV000924064]	benign\|likely benign	12	101661243	101661243	Human	1	name
407514598	CV3454162	single nucleotide variant	NM_002465.4(MYBPC1):c.176C>T (p.Ser59Leu)	Inborn genetic diseases [RCV004649568]	uncertain significance	12	101627802	101627802	Human	1	name
407504044	CV3454163	single nucleotide variant	NM_002465.4(MYBPC1):c.218C>A (p.Ala73Asp)	Inborn genetic diseases [RCV004645667]	likely benign	12	101629473	101629473	Human	1	name
407514600	CV3454164	single nucleotide variant	NM_002465.4(MYBPC1):c.247A>G (p.Ile83Val)	Inborn genetic diseases [RCV004649569]	uncertain significance	12	101629502	101629502	Human	1	name
407514605	CV3454166	single nucleotide variant	NM_002465.4(MYBPC1):c.193G>A (p.Glu65Lys)	Inborn genetic diseases [RCV004649571]	uncertain significance	12	101629448	101629448	Human	1	name
598230162	CV3983090	single nucleotide variant	NM_002465.4(MYBPC1):c.235T>C (p.Ser79Pro)	Inborn genetic diseases [RCV005381144]	uncertain significance	12	101629490	101629490	Human	1	name
598208261	CV4007658	single nucleotide variant	NM_002465.4(MYBPC1):c.271G>A (p.Gly91Arg)	Arthrogryposis, distal, type 1B [RCV005399972]	uncertain significance	12	101629526	101629526	Human	1	name
13215937	CV429342	single nucleotide variant	NM_002465.4(MYBPC1):c.1365G>A (p.Leu455=)	not specified [RCV000503055]	likely benign	12	101651232	101651232	Human		name
8627151	CV82295	single nucleotide variant	NM_002465.3(MYBPC1):c.2280G>A (p.Thr760=)	Malignant melanoma [RCV000062374]	not provided	12	101663484	101663484	Human		name
28910879	CV869044	single nucleotide variant	NM_002465.4(MYBPC1):c.2271G>A (p.Thr757=)	Arthrogryposis, distal, type 1B [RCV001109579]	benign	12	101663475	101663475	Human	1	name
150409081	CV1177530	deletion	NM_002465.4(MYBPC1):c.2357-802_2357-799del	not provided [RCV001546121]	likely benign	12	101666927	101666930	Human		name
150438646	CV1201432	single nucleotide variant	NM_002465.4(MYBPC1):c.437G>A (p.Arg146Gln)	Arthrogryposis, distal, type 1B [RCV002495929]\|not provided [RCV001583244]	uncertain significance	12	101631718	101631718	Human	1	name
150516556	CV1227122	deletion	NM_002465.4(MYBPC1):c.2357-838_2357-837del	not provided [RCV001639220]	benign	12	101666893	101666894	Human		name
150470202	CV1247948	microsatellite	NM_002465.4(MYBPC1):c.2524+126_2524+133del	not provided [RCV001670984]	benign	12	101668016	101668023	Human		name
150443278	CV1266373	deletion	NM_002465.4(MYBPC1):c.2357-802_2357-801del	not provided [RCV001690809]	benign	12	101666929	101666930	Human		name
150552447	CV1301424	single nucleotide variant	NM_002465.4(MYBPC1):c.476A>G (p.Asp159Gly)	not provided [RCV001767834]	uncertain significance	12	101632058	101632058	Human		name
155804071	CV1858618	single nucleotide variant	NM_002465.4(MYBPC1):c.793C>G (p.Arg265Gly)	Arthrogryposis, distal, type 1B [RCV002463392]	likely pathogenic	12	101642546	101642546	Human	1	name
12741959	CV227702	single nucleotide variant	NM_002465.4(MYBPC1):c.742G>A (p.Glu248Lys)	Myopathy, congenital, with tremor [RCV000850132]\|not provided [RCV000408887]	pathogenic\|likely pathogenic	12	101642495	101642495	Human	1	name
155999908	CV2287324	single nucleotide variant	NM_002465.4(MYBPC1):c.529A>T (p.Ser177Cys)	Inborn genetic diseases [RCV002865261]	uncertain significance	12	101632111	101632111	Human	1	name
156015885	CV2299006	single nucleotide variant	NM_002465.4(MYBPC1):c.708G>T (p.Trp236Cys)	Inborn genetic diseases [RCV002884541]	uncertain significance	12	101642461	101642461	Human	1	name
156292009	CV2339983	single nucleotide variant	NM_002465.4(MYBPC1):c.314A>C (p.Lys105Thr)	Inborn genetic diseases [RCV002961684]	uncertain significance	12	101631595	101631595	Human	1	name
243056218	CV2410421	single nucleotide variant	NM_002465.4(MYBPC1):c.787C>T (p.Leu263Phe)	not provided [RCV003132726]	uncertain significance	12	101642540	101642540	Human		name
329396725	CV2458980	single nucleotide variant	NM_002465.4(MYBPC1):c.883G>A (p.Val295Met)	Inborn genetic diseases [RCV003195133]	uncertain significance	12	101644714	101644714	Human	1	name
329380082	CV2466416	single nucleotide variant	NM_002465.4(MYBPC1):c.517G>A (p.Asp173Asn)	Inborn genetic diseases [RCV003212669]	uncertain significance	12	101632099	101632099	Human	1	name
401739457	CV2673290	single nucleotide variant	NM_002465.4(MYBPC1):c.742G>C (p.Glu248Gln)	Inborn genetic diseases [RCV003250952]	uncertain significance	12	101642495	101642495	Human	1	name
401783120	CV2716138	single nucleotide variant	NM_002465.4(MYBPC1):c.467A>G (p.Lys156Arg)	Inborn genetic diseases [RCV003309321]	uncertain significance	12	101632049	101632049	Human	1	name
401866808	CV2792511	single nucleotide variant	NM_002465.4(MYBPC1):c.485C>T (p.Ala162Val)	Inborn genetic diseases [RCV003379764]	uncertain significance	12	101632067	101632067	Human	1	name
404980436	CV2850506	single nucleotide variant	NM_002465.4(MYBPC1):c.611G>C (p.Gly204Ala)	not provided [RCV003488064]	uncertain significance	12	101636674	101636674	Human		name
404980440	CV2850507	single nucleotide variant	NM_002465.4(MYBPC1):c.439G>A (p.Val147Met)	not provided [RCV003488065]	uncertain significance	12	101632021	101632021	Human		name
11607783	CV322676	single nucleotide variant	NM_002465.4(MYBPC1):c.3402A>G (p.Thr1134=)	Arthrogryposis, distal, type 1B [RCV000347155]\|not provided [RCV001726104]	benign\|likely benign	12	101680498	101680498	Human	1	name
405715049	CV3309125	single nucleotide variant	NM_002465.4(MYBPC1):c.302C>A (p.Thr101Asn)	Inborn genetic diseases [RCV004449064]	uncertain significance	12	101631583	101631583	Human	1	name
405715356	CV3309169	single nucleotide variant	NM_002465.4(MYBPC1):c.368A>T (p.Lys123Ile)	Inborn genetic diseases [RCV004449108]	uncertain significance	12	101631649	101631649	Human	1	name
405715486	CV3309188	single nucleotide variant	NM_002465.4(MYBPC1):c.499T>G (p.Cys167Gly)	Inborn genetic diseases [RCV004449127]	uncertain significance	12	101632081	101632081	Human	1	name
407424639	CV3407344	single nucleotide variant	NM_002465.4(MYBPC1):c.995G>A (p.Arg332Lys)	Arthrogryposis, distal, type 1B [RCV004584161]	uncertain significance	12	101646792	101646792	Human	1	name
407424899	CV3410983	deletion	NM_002465.4(MYBPC1):c.1820del (p.Ser607fs)	not provided [RCV004588673]	uncertain significance	12	101659724	101659724	Human		name
407505126	CV3496000	single nucleotide variant	NM_002465.4(MYBPC1):c.399G>T (p.Lys133Asn)	not provided [RCV004697840]	uncertain significance	12	101631680	101631680	Human		name
597628426	CV3552495	single nucleotide variant	NM_002465.4(MYBPC1):c.355T>C (p.Trp119Arg)	Lethal congenital contracture syndrome 4 [RCV004821441]	uncertain significance	12	101631636	101631636	Human	1	name
597701359	CV3558139	single nucleotide variant	NM_002465.4(MYBPC1):c.829G>A (p.Ala277Thr)	Inborn genetic diseases [RCV004956690]	uncertain significance	12	101642582	101642582	Human	1	name
597701400	CV3558149	single nucleotide variant	NM_002465.4(MYBPC1):c.514A>G (p.Lys172Glu)	Inborn genetic diseases [RCV004956696]	uncertain significance	12	101632096	101632096	Human	1	name
8602029	CV38755	single nucleotide variant	NM_002465.4(MYBPC1):c.706T>C (p.Trp236Arg)	Arthrogryposis, distal, type 1B [RCV000022670]	pathogenic	12	101642459	101642459	Human	1	name
616932945	CV4010442	single nucleotide variant	NM_002465.4(MYBPC1):c.644T>C (p.Phe215Ser)	Myopathy, congenital, with tremor [RCV005403787]	uncertain significance	12	101636707	101636707	Human	1	name
616933153	CV4012784	single nucleotide variant	NM_002465.4(MYBPC1):c.532T>C (p.Cys178Arg)	Lethal congenital contracture syndrome 4 [RCV005410246]	uncertain significance	12	101632114	101632114	Human	1	name
617151081	CV4019272	single nucleotide variant	NM_002465.4(MYBPC1):c.781G>C (p.Gly261Arg)	not provided [RCV005423680]	uncertain significance	12	101642534	101642534	Human		name
617149035	CV4021470	single nucleotide variant	NM_002465.4(MYBPC1):c.781G>A (p.Gly261Ser)	not provided [RCV005425439]	uncertain significance	12	101642534	101642534	Human		name
8604354	CV48365	single nucleotide variant	NM_002465.4(MYBPC1):c.952C>T (p.Arg318Ter)	Lethal congenital contracture syndrome 4 [RCV000032985]\|Myopathy, congenital, with tremor [RCV001420564]	pathogenic\|uncertain significance	12	101644783	101644783	Human	2	name
13528457	CV513442	single nucleotide variant	NM_002465.4(MYBPC1):c.776T>C (p.Leu259Pro)	MYBPC1-related disorder [RCV000626001]\|Myopathy, congenital, with tremor [RCV000850131]\|not provided [RCV001731818]	pathogenic\|likely pathogenic	12	101642529	101642529	Human	1	name , trait , alternate_id
14696018	CV623048	single nucleotide variant	NM_002465.4(MYBPC1):c.788T>G (p.Leu263Arg)	Inborn genetic diseases [RCV001267435]\|MYBPC1-related disorder [RCV000786058]\|Myopathy, congenital, with tremor [RCV000850130]\|not provided [RCV001069014]	pathogenic\|likely pathogenic	12	101642541	101642541	Human	2	name , trait , alternate_id
14976041	CV677011	single nucleotide variant	NM_002465.4(MYBPC1):c.739T>C (p.Tyr247His)	Myopathy, congenital, with tremor [RCV000850133]	pathogenic	12	101642492	101642492	Human	1	name
15119926	CV738381	single nucleotide variant	NM_002465.4(MYBPC1):c.524T>C (p.Phe175Ser)	MYBPC1-related disorder [RCV003950458]\|not provided [RCV000895808]	likely benign	12	101632106	101632106	Human		name , trait , alternate_id
28868204	CV869050	single nucleotide variant	NM_002465.4(MYBPC1):c.3405G>T (p.Val1135=)	Arthrogryposis, distal, type 1B [RCV001112318]\|MYBPC1-related disorder [RCV003928711]	likely benign	12	101680501	101680501	Human	1	name , trait , alternate_id
126914222	CV1038114	single nucleotide variant	NM_002465.4(MYBPC1):c.1414G>C (p.Gly472Arg)	not provided [RCV001358074]	uncertain significance	12	101651281	101651281	Human		name
127308137	CV1122201	single nucleotide variant	NM_002465.4(MYBPC1):c.1022T>C (p.Met341Thr)	not provided [RCV001455990]	likely benign	12	101646819	101646819	Human		name
127330217	CV1122202	single nucleotide variant	NM_002465.4(MYBPC1):c.2678A>G (p.Asn893Ser)	not provided [RCV001470745]	likely benign	12	101673491	101673491	Human		name
150336879	CV1166030	single nucleotide variant	NM_002465.4(MYBPC1):c.1487T>C (p.Val496Ala)	Inborn genetic diseases [RCV003161068]\|not provided [RCV001532213]	likely benign\|uncertain significance	12	101651354	101651354	Human	1	name
150547385	CV1303012	single nucleotide variant	NM_002465.4(MYBPC1):c.2010C>A (p.Tyr670Ter)	not provided [RCV001763757]	uncertain significance	12	101661240	101661240	Human		name
150553332	CV1303316	single nucleotide variant	NM_002465.4(MYBPC1):c.2436G>T (p.Lys812Asn)	not provided [RCV001769006]	uncertain significance	12	101667811	101667811	Human		name
150555641	CV1304794	single nucleotide variant	NM_002465.4(MYBPC1):c.2018G>T (p.Gly673Val)	not provided [RCV001773042]	uncertain significance	12	101661248	101661248	Human		name
8660082	CV135088	single nucleotide variant	NM_002465.4(MYBPC1):c.1518C>G (p.His506Gln)	Arthrogryposis, distal, type 1B [RCV000292201]\|Lethal congenital contracture syndrome 4 [RCV001775586]\|Myopathy, congenital, with tremor [RCV001775587]\|not provided [RCV001668248]\|not specified [RCV000117654]	benign	12	101651385	101651385	Human	3	name
152999911	CV1684057	single nucleotide variant	NM_002465.4(MYBPC1):c.2983A>C (p.Thr995Pro)	not provided [RCV002254984]	uncertain significance	12	101677268	101677268	Human		name
155714468	CV1780312	single nucleotide variant	NM_002465.4(MYBPC1):c.2675T>G (p.Ile892Arg)	not provided [RCV002305916]	uncertain significance	12	101673488	101673488	Human		name
156365589	CV1908420	single nucleotide variant	NM_002465.4(MYBPC1):c.1382T>C (p.Leu461Ser)	not provided [RCV002582040]	likely benign	12	101651249	101651249	Human		name
156309347	CV1973025	single nucleotide variant	NM_002465.4(MYBPC1):c.2113G>A (p.Glu705Lys)	not provided [RCV002578603]	uncertain significance	12	101662438	101662438	Human		name
10403906	CV207931	single nucleotide variant	NM_002465.4(MYBPC1):c.1946T>C (p.Val649Ala)	Inborn genetic diseases [RCV002517101]\|not provided [RCV001481311]\|not specified [RCV000193701]	likely benign\|uncertain significance	12	101661176	101661176	Human	1	name
156130804	CV2210117	single nucleotide variant	NM_002465.4(MYBPC1):c.1813G>A (p.Asp605Asn)	Inborn genetic diseases [RCV002696438]	uncertain significance	12	101659717	101659717	Human	1	name
155927700	CV2218445	single nucleotide variant	NM_002465.4(MYBPC1):c.2812C>T (p.Arg938Cys)	Inborn genetic diseases [RCV002683733]	uncertain significance	12	101675294	101675294	Human	1	name
156180366	CV2258430	single nucleotide variant	NM_002465.4(MYBPC1):c.1909A>G (p.Ile637Val)	Inborn genetic diseases [RCV002788584]	uncertain significance	12	101659813	101659813	Human	1	name
155968238	CV2261972	single nucleotide variant	NM_002465.4(MYBPC1):c.2135G>T (p.Gly712Val)	Inborn genetic diseases [RCV002817464]	uncertain significance	12	101662460	101662460	Human	1	name
156339407	CV2271414	single nucleotide variant	NM_002465.4(MYBPC1):c.2701A>G (p.Thr901Ala)	Inborn genetic diseases [RCV002836121]	uncertain significance	12	101673514	101673514	Human	1	name
156061135	CV2320884	single nucleotide variant	NM_002465.4(MYBPC1):c.2792T>C (p.Ile931Thr)	Inborn genetic diseases [RCV002925055]\|not provided [RCV004779465]	uncertain significance	12	101673605	101673605	Human	1	name
156268560	CV2326309	single nucleotide variant	NM_002465.4(MYBPC1):c.1221C>G (p.Ile407Met)	Inborn genetic diseases [RCV002960191]	uncertain significance	12	101649284	101649284	Human	1	name
156386934	CV2364893	single nucleotide variant	NM_002465.4(MYBPC1):c.1756C>T (p.Arg586Trp)	Inborn genetic diseases [RCV002679974]	uncertain significance	12	101653237	101653237	Human	1	name
155959177	CV2390495	single nucleotide variant	NM_002465.4(MYBPC1):c.1501C>T (p.Arg501Cys)	Inborn genetic diseases [RCV002753838]	uncertain significance	12	101651368	101651368	Human	1	name
243056227	CV2410422	single nucleotide variant	NM_002465.4(MYBPC1):c.2788T>A (p.Ser930Thr)	not provided [RCV003132727]	uncertain significance	12	101673601	101673601	Human		name
329369047	CV2424650	single nucleotide variant	NM_002465.4(MYBPC1):c.1598A>G (p.Tyr533Cys)	Inborn genetic diseases [RCV003183733]	uncertain significance	12	101652749	101652749	Human	1	name
329359922	CV2446476	single nucleotide variant	NM_002465.4(MYBPC1):c.1289C>T (p.Ala430Val)	Inborn genetic diseases [RCV003179637]	uncertain significance	12	101649352	101649352	Human	1	name
329359680	CV2462174	single nucleotide variant	NM_002465.4(MYBPC1):c.2797A>T (p.Ile933Phe)	Inborn genetic diseases [RCV003204610]	uncertain significance	12	101673610	101673610	Human	1	name
401748783	CV2694502	single nucleotide variant	NM_002465.4(MYBPC1):c.1147A>G (p.Arg383Gly)	Inborn genetic diseases [RCV003253177]	uncertain significance	12	101648101	101648101	Human	1	name
401769969	CV2718973	single nucleotide variant	NM_002465.4(MYBPC1):c.1294A>G (p.Lys432Glu)	Inborn genetic diseases [RCV003303822]	uncertain significance	12	101649357	101649357	Human	1	name
401771452	CV2722832	single nucleotide variant	NM_002465.4(MYBPC1):c.1127C>T (p.Thr376Ile)	Inborn genetic diseases [RCV003304356]	uncertain significance	12	101648081	101648081	Human	1	name
401882071	CV2774687	single nucleotide variant	NM_002465.4(MYBPC1):c.2479G>A (p.Glu827Lys)	Inborn genetic diseases [RCV003350263]	uncertain significance	12	101667854	101667854	Human	1	name
401902959	CV2797735	single nucleotide variant	NM_002465.4(MYBPC1):c.2902G>C (p.Ala968Pro)	Inborn genetic diseases [RCV004362892]\|MYBPC1-related disorder [RCV003419200]	uncertain significance	12	101675384	101675384	Human	1	name , trait , alternate_id
401907941	CV2801250	single nucleotide variant	NM_002465.4(MYBPC1):c.2676A>G (p.Ile892Met)	MYBPC1-related disorder [RCV003397490]	uncertain significance	12	101673489	101673489	Human		name , trait , alternate_id
401932305	CV2816778	single nucleotide variant	NM_002465.4(MYBPC1):c.1220T>C (p.Ile407Thr)	Inborn genetic diseases [RCV005382645]\|not provided [RCV003391958]	uncertain significance	12	101649283	101649283	Human	1	name
401932306	CV2816779	single nucleotide variant	NM_002465.4(MYBPC1):c.1281A>G (p.Ile427Met)	not provided [RCV003391959]	uncertain significance	12	101649344	101649344	Human		name
401917188	CV2829711	single nucleotide variant	NM_002465.4(MYBPC1):c.1706G>A (p.Arg569His)	not provided [RCV003443755]	uncertain significance	12	101653187	101653187	Human		name
404980458	CV2850511	single nucleotide variant	NM_002465.4(MYBPC1):c.1138T>G (p.Cys380Gly)	not provided [RCV003488069]	uncertain significance	12	101648092	101648092	Human		name
11610651	CV315703	single nucleotide variant	NM_002465.4(MYBPC1):c.1457C>A (p.Pro486Gln)	Arthrogryposis, distal, type 1B [RCV000384150]\|Inborn genetic diseases [RCV002520781]\|MYBPC1-related disorder [RCV003920266]\|not provided [RCV001532212]	benign\|likely benign\|uncertain significance	12	101651324	101651324	Human	2	name , trait , alternate_id
11599003	CV315705	single nucleotide variant	NM_002465.4(MYBPC1):c.2522T>C (p.Ile841Thr)	Arthrogryposis, distal, type 1B [RCV000261907]\|Inborn genetic diseases [RCV003258754]\|not provided [RCV004721327]	likely benign\|uncertain significance	12	101667897	101667897	Human	2	name
11610792	CV315706	single nucleotide variant	NM_002465.4(MYBPC1):c.2908A>C (p.Ile970Leu)	Arthrogryposis, distal, type 1B [RCV000386487]	uncertain significance	12	101675390	101675390	Human	1	name
405259766	CV3186412	single nucleotide variant	NM_002465.4(MYBPC1):c.2908A>G (p.Ile970Val)	Inborn genetic diseases [RCV004950763]\|not provided [RCV003884171]	uncertain significance	12	101675390	101675390	Human	1	name
405275360	CV3204795	single nucleotide variant	NM_002465.4(MYBPC1):c.1084G>A (p.Val362Ile)	MYBPC1-related disorder [RCV003952172]	likely benign	12	101646881	101646881	Human		name , trait , alternate_id
11609702	CV322672	single nucleotide variant	NM_002465.4(MYBPC1):c.2579T>C (p.Val860Ala)	Arthrogryposis, distal, type 1B [RCV000371683]\|Inborn genetic diseases [RCV002522217]	uncertain significance	12	101670375	101670375	Human	2	name
11619339	CV328795	single nucleotide variant	NM_002465.4(MYBPC1):c.1250G>A (p.Arg417Lys)	Arthrogryposis, distal, type 1B [RCV000324030]\|Arthrogryposis, distal, type 1B [RCV005396939]\|not provided [RCV002520780]	benign\|likely benign\|uncertain significance	12	101649313	101649313	Human	1	name
11621530	CV328803	single nucleotide variant	NM_002465.4(MYBPC1):c.1553C>T (p.Ala518Val)	Arthrogryposis, distal, type 1B [RCV000349522]	likely benign\|uncertain significance	12	101652704	101652704	Human	1	name
11650923	CV328820	single nucleotide variant	NM_002465.4(MYBPC1):c.1703T>C (p.Leu568Pro)	Arthrogryposis, distal, type 1B [RCV000296018]\|Inborn genetic diseases [RCV004021530]	uncertain significance	12	101653184	101653184	Human	2	name
405714823	CV3309091	single nucleotide variant	NM_002465.4(MYBPC1):c.2442T>G (p.Phe814Leu)	Inborn genetic diseases [RCV004449030]	uncertain significance	12	101667817	101667817	Human	1	name
405714903	CV3309103	single nucleotide variant	NM_002465.4(MYBPC1):c.2694G>C (p.Glu898Asp)	Inborn genetic diseases [RCV004449042]	uncertain significance	12	101673507	101673507	Human	1	name
405714977	CV3309114	single nucleotide variant	NM_002465.4(MYBPC1):c.2840T>C (p.Ile947Thr)	Inborn genetic diseases [RCV004449053]	likely benign	12	101675322	101675322	Human	1	name
405714442	CV3312929	single nucleotide variant	NM_002465.4(MYBPC1):c.1257G>C (p.Glu419Asp)	Inborn genetic diseases [RCV004448974]	uncertain significance	12	101649320	101649320	Human	1	name
405714584	CV3312949	single nucleotide variant	NM_002465.4(MYBPC1):c.1502G>A (p.Arg501His)	Inborn genetic diseases [RCV004448994]	uncertain significance	12	101651369	101651369	Human	1	name
405714653	CV3312959	single nucleotide variant	NM_002465.4(MYBPC1):c.1757G>A (p.Arg586Gln)	Inborn genetic diseases [RCV004449004]	likely benign	12	101653238	101653238	Human	1	name
405714698	CV3312966	single nucleotide variant	NM_002465.4(MYBPC1):c.1838T>G (p.Ile613Arg)	Inborn genetic diseases [RCV004449011]	uncertain significance	12	101659742	101659742	Human	1	name
405714759	CV3312975	single nucleotide variant	NM_002465.4(MYBPC1):c.2012A>G (p.Asp671Gly)	Inborn genetic diseases [RCV004449020]	uncertain significance	12	101661242	101661242	Human	1	name
407504037	CV3454160	single nucleotide variant	NM_002465.4(MYBPC1):c.1915G>A (p.Val639Ile)	Inborn genetic diseases [RCV004645665]\|not provided [RCV004794692]	likely benign\|uncertain significance	12	101659819	101659819	Human	1	name
407504039	CV3454161	single nucleotide variant	NM_002465.4(MYBPC1):c.2270C>T (p.Thr757Met)	Inborn genetic diseases [RCV004645666]	likely benign	12	101663474	101663474	Human	1	name
407514607	CV3454167	single nucleotide variant	NM_002465.4(MYBPC1):c.1399C>A (p.Gln467Lys)	Inborn genetic diseases [RCV004649572]	uncertain significance	12	101651266	101651266	Human	1	name
407504045	CV3454168	single nucleotide variant	NM_002465.4(MYBPC1):c.2821C>G (p.Pro941Ala)	Inborn genetic diseases [RCV004645668]	uncertain significance	12	101675303	101675303	Human	1	name
407505143	CV3496002	single nucleotide variant	NM_002465.4(MYBPC1):c.1054G>A (p.Gly352Ser)	not provided [RCV004697842]	uncertain significance	12	101646851	101646851	Human		name
596924515	CV3536641	single nucleotide variant	NM_002465.4(MYBPC1):c.1577A>G (p.Tyr526Cys)	MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome [RCV004790051]	uncertain significance	12	101652728	101652728	Human	1	name , trait
596932669	CV3539295	single nucleotide variant	NM_002465.4(MYBPC1):c.2279C>T (p.Thr760Met)	not provided [RCV004793917]	uncertain significance	12	101663483	101663483	Human		name
597701367	CV3558140	single nucleotide variant	NM_002465.4(MYBPC1):c.1796G>A (p.Arg599Lys)	Inborn genetic diseases [RCV004956691]	uncertain significance	12	101659700	101659700	Human	1	name
597664202	CV3558141	single nucleotide variant	NM_002465.4(MYBPC1):c.2791A>G (p.Ile931Val)	Inborn genetic diseases [RCV004947266]	uncertain significance	12	101673604	101673604	Human	1	name
597701373	CV3558143	single nucleotide variant	NM_002465.4(MYBPC1):c.2251G>C (p.Val751Leu)	Inborn genetic diseases [RCV004956692]	uncertain significance	12	101663455	101663455	Human	1	name
597701379	CV3558144	single nucleotide variant	NM_002465.4(MYBPC1):c.2558A>G (p.Lys853Arg)	Inborn genetic diseases [RCV004956693]	uncertain significance	12	101670354	101670354	Human	1	name
597664216	CV3558145	single nucleotide variant	NM_002465.4(MYBPC1):c.1022T>A (p.Met341Lys)	Inborn genetic diseases [RCV004947268]	uncertain significance	12	101646819	101646819	Human	1	name
597701386	CV3558146	single nucleotide variant	NM_002465.4(MYBPC1):c.1135T>A (p.Tyr379Asn)	Inborn genetic diseases [RCV004956694]	uncertain significance	12	101648089	101648089	Human	1	name
597664221	CV3558147	single nucleotide variant	NM_002465.4(MYBPC1):c.1291A>C (p.Thr431Pro)	Inborn genetic diseases [RCV004947269]	uncertain significance	12	101649354	101649354	Human	1	name
597701392	CV3558148	single nucleotide variant	NM_002465.4(MYBPC1):c.1914G>C (p.Lys638Asn)	Inborn genetic diseases [RCV004956695]	uncertain significance	12	101659818	101659818	Human	1	name
597701406	CV3558151	single nucleotide variant	NM_002465.4(MYBPC1):c.1282G>C (p.Glu428Gln)	Inborn genetic diseases [RCV004956697]	uncertain significance	12	101649345	101649345	Human	1	name
12741081	CV360070	single nucleotide variant	NM_002465.4(MYBPC1):c.1493A>G (p.Glu498Gly)	not specified [RCV000414023]	uncertain significance	12	101651360	101651360	Human		name
597935437	CV3863679	single nucleotide variant	NM_002465.4(MYBPC1):c.2848G>A (p.Val950Ile)	not provided [RCV005207492]	uncertain significance	12	101675330	101675330	Human		name
8602030	CV38756	single nucleotide variant	NM_002465.4(MYBPC1):c.2566T>C (p.Tyr856His)	Arthrogryposis, distal, type 1B [RCV000022671]	pathogenic\|uncertain significance	12	101670362	101670362	Human	1	name
598127734	CV3882848	single nucleotide variant	NM_002465.4(MYBPC1):c.2714T>C (p.Ile905Thr)	not provided [RCV005234379]	uncertain significance	12	101673527	101673527	Human		name
598263986	CV3983084	single nucleotide variant	NM_002465.4(MYBPC1):c.1828G>A (p.Val610Ile)	Inborn genetic diseases [RCV005387637]	likely benign	12	101659732	101659732	Human	1	name
598230140	CV3983085	single nucleotide variant	NM_002465.4(MYBPC1):c.1745C>A (p.Ala582Asp)	Inborn genetic diseases [RCV005381139]	uncertain significance	12	101653226	101653226	Human	1	name
598230145	CV3983086	single nucleotide variant	NM_002465.4(MYBPC1):c.1792A>G (p.Ile598Val)	Inborn genetic diseases [RCV005381140]	uncertain significance	12	101659696	101659696	Human	1	name
598230149	CV3983087	single nucleotide variant	NM_002465.4(MYBPC1):c.1187A>G (p.Asn396Ser)	Inborn genetic diseases [RCV005381141]	likely benign	12	101648141	101648141	Human	1	name
598230153	CV3983088	single nucleotide variant	NM_002465.4(MYBPC1):c.1874A>G (p.Asn625Ser)	Inborn genetic diseases [RCV005381142]	uncertain significance	12	101659778	101659778	Human	1	name
598230159	CV3983089	single nucleotide variant	NM_002465.4(MYBPC1):c.1748T>C (p.Met583Thr)	Inborn genetic diseases [RCV005381143]	uncertain significance	12	101653229	101653229	Human	1	name
598230166	CV3983091	single nucleotide variant	NM_002465.4(MYBPC1):c.2255A>T (p.Asp752Val)	Inborn genetic diseases [RCV005381145]	uncertain significance	12	101663459	101663459	Human	1	name
598208253	CV4007656	single nucleotide variant	NM_002465.4(MYBPC1):c.1760G>C (p.Gly587Ala)	Arthrogryposis, distal, type 1B [RCV005399970]	uncertain significance	12	101653241	101653241	Human	1	name
598208257	CV4007657	single nucleotide variant	NM_002465.4(MYBPC1):c.2573G>A (p.Arg858His)	Arthrogryposis, distal, type 1B [RCV005399971]	uncertain significance	12	101670369	101670369	Human	1	name
12895492	CV408503	single nucleotide variant	NM_002465.4(MYBPC1):c.1253T>G (p.Val418Gly)	not provided [RCV000486652]	likely pathogenic	12	101649316	101649316	Human		name
13213169	CV429343	single nucleotide variant	NM_002465.4(MYBPC1):c.2510T>G (p.Val837Gly)	Lethal congenital contracture syndrome 4 [RCV004720266]\|Myopathy, congenital, with tremor [RCV003989543]\|not specified [RCV000499644]	likely benign\|uncertain significance	12	101667885	101667885	Human	2	name
13532824	CV511951	single nucleotide variant	NM_002465.4(MYBPC1):c.2572C>T (p.Arg858Cys)	Inborn genetic diseases [RCV000624576]	uncertain significance	12	101670368	101670368	Human	1	name
13612207	CV514015	single nucleotide variant	NM_002465.4(MYBPC1):c.1678G>C (p.Val560Leu)	Distal arthrogryposis [RCV000626822]	likely pathogenic	12	101653159	101653159	Human	2	name
14396179	CV611760	single nucleotide variant	NM_002465.4(MYBPC1):c.1242C>A (p.Tyr414Ter)	not provided [RCV000760917]	likely pathogenic	12	101649305	101649305	Human		name
21074314	CV796675	single nucleotide variant	NM_002465.4(MYBPC1):c.1352T>C (p.Leu451Pro)	not provided [RCV000994963]	uncertain significance	12	101649415	101649415	Human		name
28867377	CV869038	single nucleotide variant	NM_002465.4(MYBPC1):c.1148G>C (p.Arg383Thr)	Arthrogryposis, distal, type 1B [RCV001111778]	uncertain significance	12	101648102	101648102	Human	1	name
28868063	CV869039	single nucleotide variant	NM_002465.4(MYBPC1):c.1234T>C (p.Ser412Pro)	Arthrogryposis, distal, type 1B [RCV001112229]	uncertain significance	12	101649297	101649297	Human	1	name
28868067	CV869040	single nucleotide variant	NM_002465.4(MYBPC1):c.1237A>G (p.Arg413Gly)	Arthrogryposis, distal, type 1B [RCV001112230]\|Inborn genetic diseases [RCV002555086]	benign\|uncertain significance	12	101649300	101649300	Human	2	name
28868070	CV869041	single nucleotide variant	NM_002465.4(MYBPC1):c.1399C>G (p.Gln467Glu)	Arthrogryposis, distal, type 1B [RCV001112231]\|Arthrogryposis, distal, type 1B [RCV005394743]\|Inborn genetic diseases [RCV002556191]	likely benign\|uncertain significance	12	101651266	101651266	Human	2	name
28868072	CV869042	single nucleotide variant	NM_002465.4(MYBPC1):c.1423A>G (p.Ile475Val)	Arthrogryposis, distal, type 1B [RCV001112232]	benign	12	101651290	101651290	Human	1	name
28910878	CV869043	single nucleotide variant	NM_002465.4(MYBPC1):c.2153G>A (p.Arg718His)	Arthrogryposis, distal, type 1B [RCV001109578]\|MYBPC1-related disorder [RCV004734017]	uncertain significance	12	101662478	101662478	Human	1	name , trait , alternate_id
28910880	CV869045	single nucleotide variant	NM_002465.4(MYBPC1):c.2303A>T (p.His768Leu)	Arthrogryposis, distal, type 1B [RCV001109580]	uncertain significance	12	101663507	101663507	Human	1	name
28867493	CV869046	single nucleotide variant	NM_002465.4(MYBPC1):c.2539C>T (p.Arg847Cys)	Arthrogryposis, distal, type 1B [RCV001111854]	benign	12	101670335	101670335	Human	1	name
28867496	CV869047	single nucleotide variant	NM_002465.4(MYBPC1):c.2776G>A (p.Val926Met)	Arthrogryposis, distal, type 1B [RCV001111855]	uncertain significance	12	101673589	101673589	Human	1	name
28867499	CV869048	single nucleotide variant	NM_002465.4(MYBPC1):c.2785G>A (p.Ala929Thr)	Arthrogryposis, distal, type 1B [RCV001111856]	uncertain significance	12	101673598	101673598	Human	1	name
34891108	CV904560	single nucleotide variant	NM_002465.4(MYBPC1):c.1225G>A (p.Gly409Ser)	not provided [RCV001171892]	uncertain significance	12	101649288	101649288	Human		name
150414746	CV1198287	microsatellite	NM_002465.4(MYBPC1):c.2357-1295_2357-1293del	not provided [RCV001575097]	likely benign	12	101666433	101666435	Human		name
156333566	CV2266817	single nucleotide variant	NM_002465.4(MYBPC1):c.3253A>G (p.Ile1085Val)	Inborn genetic diseases [RCV002835483]	uncertain significance	12	101680349	101680349	Human	1	name
156189438	CV2289182	single nucleotide variant	NM_002465.4(MYBPC1):c.3175C>T (p.Pro1059Ser)	Inborn genetic diseases [RCV002874152]	uncertain significance	12	101678167	101678167	Human	1	name
156119162	CV2354029	single nucleotide variant	NM_002465.4(MYBPC1):c.3010A>T (p.Ile1004Leu)	Inborn genetic diseases [RCV002981119]	uncertain significance	12	101677295	101677295	Human	1	name
243051689	CV2410418	single nucleotide variant	NM_002465.4(MYBPC1):c.3514T>G (p.Ter1172Gly)	not provided [RCV003132724]	uncertain significance	12	101684403	101684403	Human		name
401725482	CV2697430	single nucleotide variant	NM_002465.4(MYBPC1):c.3457C>T (p.Pro1153Ser)	Inborn genetic diseases [RCV003245838]	uncertain significance	12	101682627	101682627	Human	1	name
401895270	CV2786309	single nucleotide variant	NM_002465.4(MYBPC1):c.3280A>G (p.Ile1094Val)	Inborn genetic diseases [RCV003372338]	uncertain significance	12	101680376	101680376	Human	1	name
401913999	CV2799035	single nucleotide variant	NM_002465.4(MYBPC1):c.3293C>T (p.Pro1098Leu)	MYBPC1-related disorder [RCV003400214]	uncertain significance	12	101680389	101680389	Human		name , trait , alternate_id
11650359	CV330029	single nucleotide variant	NM_002465.4(MYBPC1):c.3262A>T (p.Met1088Leu)	Arthrogryposis, distal, type 1B [RCV000292192]	uncertain significance	12	101680358	101680358	Human	1	name
405715100	CV3309132	single nucleotide variant	NM_002465.4(MYBPC1):c.3031C>T (p.Arg1011Trp)	Inborn genetic diseases [RCV004449071]	uncertain significance	12	101677316	101677316	Human	1	name
405715151	CV3309140	single nucleotide variant	NM_002465.4(MYBPC1):c.3100G>A (p.Ala1034Thr)	Inborn genetic diseases [RCV004449079]	uncertain significance	12	101677385	101677385	Human	1	name
405715236	CV3309152	single nucleotide variant	NM_002465.4(MYBPC1):c.3274G>A (p.Val1092Ile)	Inborn genetic diseases [RCV004449091]	likely benign	12	101680370	101680370	Human	1	name
405715268	CV3309157	single nucleotide variant	NM_002465.4(MYBPC1):c.3278C>G (p.Ala1093Gly)	Inborn genetic diseases [RCV004449096]	uncertain significance	12	101680374	101680374	Human	1	name
405715313	CV3309163	single nucleotide variant	NM_002465.4(MYBPC1):c.3289G>C (p.Asp1097His)	Inborn genetic diseases [RCV004449102]	uncertain significance	12	101680385	101680385	Human	1	name
597664196	CV3558138	single nucleotide variant	NM_002465.4(MYBPC1):c.3362G>A (p.Gly1121Glu)	Inborn genetic diseases [RCV004947265]	likely benign	12	101680458	101680458	Human	1	name
597664228	CV3558150	single nucleotide variant	NM_002465.4(MYBPC1):c.3407A>C (p.Glu1136Ala)	Inborn genetic diseases [RCV004947270]	uncertain significance	12	101680503	101680503	Human	1	name
598230134	CV3983083	single nucleotide variant	NM_002465.4(MYBPC1):c.3356A>G (p.Tyr1119Cys)	Inborn genetic diseases [RCV005381138]	uncertain significance	12	101680452	101680452	Human	1	name
13831386	CV583113	single nucleotide variant	NM_002465.4(MYBPC1):c.3224G>A (p.Cys1075Tyr)	Arthrogryposis, distal, type 1B [RCV000723277]	uncertain significance	12	101678216	101678216	Human	1	name
28868201	CV869049	single nucleotide variant	NM_002465.4(MYBPC1):c.3013G>A (p.Gly1005Arg)	Arthrogryposis, distal, type 1B [RCV001112317]	uncertain significance	12	101677298	101677298	Human	1	name
8634457	CV89677	single nucleotide variant	NM_002465.3(MYBPC1):c.3176C>T (p.Pro1059Leu)	Malignant melanoma [RCV000069774]	not provided	12	101678168	101678168	Human		name
150510464	CV1211705	microsatellite	NM_002465.4(MYBPC1):c.2357-839_2357-838insCACA	not provided [RCV001597600]	benign	12	101666890	101666891	Human		name
243054403	CV2410423	indel	NM_002465.4(MYBPC1):c.377delinsGG (p.Asp126fs)	not provided [RCV003131623]	uncertain significance	12	101631658	101631658	Human		name
329350990	CV2477820	insertion	NM_002465.4(MYBPC1):c.1927+110_1927+111insTTTTT	not provided [RCV003223933]	likely benign	12	101659939	101659940	Human		name
11653512	CV322600	deletion	NM_002465.4(MYBPC1):c.51_56del (p.Pro18_Pro19del)	Distal arthrogryposis [RCV000311233]	uncertain significance	12	101614517	101614522	Human	2	name
243056208	CV2410420	indel	NM_002465.4(MYBPC1):c.831_832delinsCC (p.Ala278Pro)	not provided [RCV003132725]	uncertain significance	12	101642584	101642585	Human		name
329350991	CV2477821	insertion	NM_002465.4(MYBPC1):c.1927+115_1927+116insGCCTAGAGGACTTTTTTTTTGT	not provided [RCV003223934]	likely benign	12	101659945	101659946	Human		name

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