Bcap31 Variant Search Result - Rat Genome Database

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195 records found for search term Bcap31

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
408369266	CV3508567	single nucleotide variant	NM_001256447.2(BCAP31):c.*4C>G	BCAP31-related disorder [RCV004736780]	likely benign	X	153700933	153700933	Human		name , trait , alternate_id
150449789	CV1215156	single nucleotide variant	NM_001256447.2(BCAP31):c.-86T>G	not provided [RCV001611746]	benign	X	153724375	153724375	Human		name
152154329	CV1667881	single nucleotide variant	NM_001256447.2(BCAP31):c.*44C>T	not provided [RCV002221774]	likely benign	X	153700893	153700893	Human		name
21075205	CV798198	single nucleotide variant	NM_001256447.2(BCAP31):c.-27T>G	not provided [RCV000996042]	uncertain significance	X	153723271	153723271	Human		name
151729863	CV1416679	single nucleotide variant	NM_001256447.2(BCAP31):c.92+4T>C	not provided [RCV002004656]	conflicting interpretations of pathogenicity\|uncertain significance	X	153723149	153723149	Human		name
405146971	CV3067288	single nucleotide variant	NM_001256447.2(BCAP31):c.92+7C>T	not provided [RCV003726132]	likely benign	X	153723146	153723146	Human		name
150451140	CV1254195	single nucleotide variant	NM_001256447.2(BCAP31):c.92+44C>T	not provided [RCV001667834]	benign	X	153723109	153723109	Human		name
152104602	CV1633806	single nucleotide variant	NM_001256447.2(BCAP31):c.93-10T>G	not provided [RCV002195987]	likely benign	X	153720982	153720982	Human		name
152144947	CV1658238	single nucleotide variant	NM_001256447.2(BCAP31):c.602-4C>T	not provided [RCV002219893]	likely benign	X	153702111	153702111	Human		name
156436768	CV1940339	single nucleotide variant	NM_001256447.2(BCAP31):c.341+7G>T	not provided [RCV003106292]	likely benign	X	153715535	153715535	Human		name
155953680	CV2014165	single nucleotide variant	NM_001256447.2(BCAP31):c.92+10A>G	not provided [RCV002686155]	likely benign	X	153723143	153723143	Human		name
156190446	CV2016975	single nucleotide variant	NM_001256447.2(BCAP31):c.702+8C>T	not provided [RCV002711069]	likely benign	X	153701999	153701999	Human		name
156217702	CV2028740	single nucleotide variant	NM_001256447.2(BCAP31):c.601+3G>A	not provided [RCV002712016]	uncertain significance	X	153702932	153702932	Human		name
156206976	CV2074063	single nucleotide variant	NM_001256447.2(BCAP31):c.477+1G>C	not provided [RCV002829156]	likely pathogenic	X	153703958	153703958	Human		name
156373196	CV2185214	single nucleotide variant	NM_001256447.2(BCAP31):c.602-9C>G	not provided [RCV003049881]	likely benign	X	153702116	153702116	Human		name
243065003	CV2409462	deletion	NM_001256447.2(BCAP31):c.477+8del	Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome [RCV003143752]	uncertain significance	X	153703951	153703951	Human	1	name
405159097	CV3021301	single nucleotide variant	NM_001256447.2(BCAP31):c.477+6C>T	not provided [RCV003703834]	uncertain significance	X	153703953	153703953	Human		name
405012216	CV3128172	single nucleotide variant	NM_001256447.2(BCAP31):c.342-4G>A	not provided [RCV003829052]	likely benign	X	153704098	153704098	Human		name
597850763	CV3737269	single nucleotide variant	NM_001256447.2(BCAP31):c.342-5T>C	not provided [RCV005066235]	likely benign	X	153704099	153704099	Human		name
597837500	CV3758046	single nucleotide variant	NM_001256447.2(BCAP31):c.341+7G>C	not provided [RCV005085880]	likely benign	X	153715535	153715535	Human		name
12895047	CV411155	single nucleotide variant	NM_001256447.2(BCAP31):c.341+2T>G	Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome [RCV000509475]\|not provided [RCV000485079]	pathogenic\|not provided	X	153715540	153715540	Human	1	name
15132562	CV695899	single nucleotide variant	NM_001256447.2(BCAP31):c.601+9C>T	BCAP31-related disorder [RCV004549983]\|not provided [RCV000876169]	likely benign	X	153702926	153702926	Human	1	name , trait , alternate_id
8573586	CV79335	single nucleotide variant	NM_001256447.2(BCAP31):c.194-2A>G	Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome [RCV000059314]	pathogenic	X	153715691	153715691	Human	1	name
150409885	CV1192461	single nucleotide variant	NM_001256447.2(BCAP31):c.92+293C>T	not provided [RCV001565815]	likely benign	X	153722860	153722860	Human		name
150510598	CV1211786	deletion	NM_001256447.2(BCAP31):c.341+87del	not provided [RCV001597682]	benign	X	153715455	153715455	Human		name
150482374	CV1221043	single nucleotide variant	NM_001256447.2(BCAP31):c.477+32G>A	not provided [RCV001617128]	benign	X	153703927	153703927	Human		name
150441107	CV1267022	single nucleotide variant	NM_001256447.2(BCAP31):c.477+29G>C	not provided [RCV001690458]	benign	X	153703930	153703930	Human		name
150474965	CV1278965	single nucleotide variant	NM_001256447.2(BCAP31):c.478-84A>T	not provided [RCV001713773]	benign	X	153703142	153703142	Human		name
150521052	CV1290809	single nucleotide variant	NM_001256447.2(BCAP31):c.341+63A>G	not provided [RCV001732463]	likely benign	X	153715479	153715479	Human		name
152116482	CV1610995	single nucleotide variant	NM_001256447.2(BCAP31):c.702+14T>C	not provided [RCV002135158]	likely benign	X	153701993	153701993	Human		name
156410331	CV1932290	single nucleotide variant	NM_001256447.2(BCAP31):c.342-10A>C	not provided [RCV002607833]	likely benign	X	153704104	153704104	Human		name
156216608	CV1963344	single nucleotide variant	NM_001256447.2(BCAP31):c.601+16G>A	not provided [RCV002575355]	likely benign	X	153702919	153702919	Human		name
156218087	CV1963454	single nucleotide variant	NM_001256447.2(BCAP31):c.702+13G>A	not provided [RCV002575416]	benign	X	153701994	153701994	Human		name
156271698	CV1970973	single nucleotide variant	NM_001256447.2(BCAP31):c.477+16C>T	not provided [RCV002598113]	likely benign	X	153703943	153703943	Human		name
156324336	CV1972576	deletion	NM_001256447.2(BCAP31):c.194-18del	not provided [RCV002600433]	likely benign	X	153715707	153715707	Human		name
156416635	CV1976733	single nucleotide variant	NM_001256447.2(BCAP31):c.478-12C>T	not provided [RCV002589794]	likely benign	X	153703070	153703070	Human		name
156235096	CV1982389	single nucleotide variant	NM_001256447.2(BCAP31):c.702+12C>T	not provided [RCV002626939]	likely benign	X	153701995	153701995	Human		name
156341459	CV1998205	single nucleotide variant	NM_001256447.2(BCAP31):c.602-11A>G	not provided [RCV002650338]	likely benign	X	153702118	153702118	Human		name
156357617	CV2020186	single nucleotide variant	NM_001256447.2(BCAP31):c.194-14C>T	not provided [RCV002720642]	likely benign	X	153715703	153715703	Human		name
156041621	CV2089672	single nucleotide variant	NM_001256447.2(BCAP31):c.601+15C>T	not provided [RCV002867462]	likely benign	X	153702920	153702920	Human		name
156111899	CV2117332	single nucleotide variant	NM_001256447.2(BCAP31):c.602-16T>C	not provided [RCV002953150]	likely benign	X	153702123	153702123	Human		name
402474444	CV2858186	single nucleotide variant	NM_001256447.2(BCAP31):c.194-10T>A	not provided [RCV003543134]	likely benign	X	153715699	153715699	Human		name
405158317	CV2961012	single nucleotide variant	NM_001256447.2(BCAP31):c.601+10G>A	not provided [RCV003670494]	likely benign	X	153702925	153702925	Human		name
405027591	CV3015514	single nucleotide variant	NM_001256447.2(BCAP31):c.341+10G>T	not provided [RCV003695325]	likely benign	X	153715532	153715532	Human		name
405169258	CV3029201	single nucleotide variant	NM_001256447.2(BCAP31):c.477+20C>A	not provided [RCV003704552]	likely benign	X	153703939	153703939	Human		name
404984995	CV3121707	single nucleotide variant	NM_001256447.2(BCAP31):c.341+10G>A	not provided [RCV003826506]	likely benign	X	153715532	153715532	Human		name
402521883	CV3126893	duplication	NM_001256447.2(BCAP31):c.342-15dup	not provided [RCV003824811]	benign	X	153704108	153704109	Human		name
597956641	CV3817998	single nucleotide variant	NM_001256447.2(BCAP31):c.703-11T>C	not provided [RCV005162449]	uncertain significance	X	153700986	153700986	Human		name
597949155	CV3818496	single nucleotide variant	NM_001256447.2(BCAP31):c.341+12G>A	not provided [RCV005160757]	likely benign	X	153715530	153715530	Human		name
597973263	CV3820381	single nucleotide variant	NM_001256447.2(BCAP31):c.601+10G>C	not provided [RCV005167898]	likely benign	X	153702925	153702925	Human		name
150335106	CV1173550	single nucleotide variant	NM_001256447.2(BCAP31):c.342-131A>G	not provided [RCV001540406]	benign	X	153704225	153704225	Human		name
150337195	CV1173551	single nucleotide variant	NM_001256447.2(BCAP31):c.-45+252G>A	not provided [RCV001541483]	likely benign	X	153724082	153724082	Human		name
150417086	CV1199434	single nucleotide variant	NM_001256447.2(BCAP31):c.-44-454G>A	not provided [RCV001576151]	likely benign	X	153723742	153723742	Human		name
150466880	CV1207002	single nucleotide variant	NM_001256447.2(BCAP31):c.-45+326C>A	not provided [RCV001587794]	likely benign	X	153724008	153724008	Human		name
150446525	CV1215670	single nucleotide variant	NM_001256447.2(BCAP31):c.194-144A>G	not provided [RCV001611263]	benign	X	153715833	153715833	Human		name
150451164	CV1220824	single nucleotide variant	NM_001256447.2(BCAP31):c.-45+319G>T	not provided [RCV001611918]	benign	X	153724015	153724015	Human		name
150502653	CV1223272	single nucleotide variant	NM_001256447.2(BCAP31):c.477+249T>C	not provided [RCV001621206]	benign	X	153703710	153703710	Human		name
150515273	CV1227503	deletion	NM_001256447.2(BCAP31):c.194-315del	not provided [RCV001638776]	benign	X	153716004	153716004	Human		name
150480887	CV1239672	single nucleotide variant	NM_001256447.2(BCAP31):c.478-325G>A	not provided [RCV001652835]	benign	X	153703383	153703383	Human		name
150503117	CV1257717	deletion	NM_001256447.2(BCAP31):c.703-135del	not provided [RCV001677405]	benign	X	153701110	153701110	Human		name
150445112	CV1261145	single nucleotide variant	NM_001256447.2(BCAP31):c.-44-155A>C	not provided [RCV001679819]	benign	X	153723443	153723443	Human		name
155917033	CV2336257	single nucleotide variant	NM_001256447.2(BCAP31):c.-44-238C>T	BCAP31-related disorder [RCV004553845]\|Inborn genetic diseases [RCV002968839]	likely benign	X	153723526	153723526	Human	2	name , trait , alternate_id
401723898	CV2672198	single nucleotide variant	NM_001256447.2(BCAP31):c.-45+249G>C	not provided [RCV003239099]	likely benign	X	153724085	153724085	Human		name
401913692	CV2799599	single nucleotide variant	NM_001256447.2(BCAP31):c.-44-256G>T	BCAP31-related disorder [RCV004552608]	uncertain significance	X	153723544	153723544	Human		name , trait , alternate_id
401921684	CV2824281	single nucleotide variant	NM_001256447.2(BCAP31):c.-44-357C>T	not provided [RCV003432592]	likely benign	X	153723645	153723645	Human		name
401921685	CV2824282	single nucleotide variant	NM_001256447.2(BCAP31):c.-44-377G>A	BCAP31-related disorder [RCV004738741]\|not provided [RCV003432593]	likely benign	X	153723665	153723665	Human	1	name , trait , alternate_id
405259225	CV3194632	single nucleotide variant	NM_001256447.2(BCAP31):c.-44-322C>T	BCAP31-related disorder [RCV004548856]\|Inborn genetic diseases [RCV004968563]	likely benign	X	153723610	153723610	Human	2	name , trait , alternate_id
405289185	CV3205029	deletion	NM_001256447.2(BCAP31):c.-12_-10del	BCAP31-related disorder [RCV004552866]	likely benign	X	153723254	153723256	Human		name , trait , alternate_id
405654597	CV3228267	single nucleotide variant	NM_001256447.2(BCAP31):c.-44-346C>T	not specified [RCV003995002]	uncertain significance	X	153723634	153723634	Human		name
405706315	CV3301699	single nucleotide variant	NM_001256447.2(BCAP31):c.-44-276A>G	Inborn genetic diseases [RCV004426126]	uncertain significance	X	153723564	153723564	Human	1	name
12741940	CV361238	single nucleotide variant	NM_001256447.2(BCAP31):c.-44-270C>A	Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome [RCV000415452]	pathogenic\|no classifications from unflagged records	X	153723558	153723558	Human	1	name
598126994	CV3887990	single nucleotide variant	NM_001256447.2(BCAP31):c.-44-248C>T	not provided [RCV005242676]	likely benign	X	153723536	153723536	Human		name
598262992	CV3949115	single nucleotide variant	NM_001256447.2(BCAP31):c.-44-288G>T	Inborn genetic diseases [RCV005300912]	uncertain significance	X	153723576	153723576	Human	1	name
15168927	CV758354	single nucleotide variant	NM_001256447.2(BCAP31):c.9G>T (p.Leu3=)	not provided [RCV000927394]	likely benign	X	153723236	153723236	Human		name
152174986	CV1520598	single nucleotide variant	NM_001256447.2(BCAP31):c.36C>T (p.Leu12=)	not provided [RCV002184697]	likely benign	X	153723209	153723209	Human		name
152145854	CV1642217	single nucleotide variant	NM_001256447.2(BCAP31):c.81T>C (p.Ile27=)	BCAP31-related disorder [RCV004553721]\|not provided [RCV002101456]	likely benign	X	153723164	153723164	Human	1	name , trait , alternate_id
155909173	CV2131033	single nucleotide variant	NM_001256447.2(BCAP31):c.42G>A (p.Ala14=)	not provided [RCV002967917]	likely benign	X	153723203	153723203	Human		name
596945262	CV3547775	single nucleotide variant	NM_001256447.2(BCAP31):c.75C>T (p.Pro25=)	not provided [RCV004809106]	likely benign	X	153723170	153723170	Human		name
150489185	CV1250506	microsatellite	NM_001256447.2(BCAP31):c.478-276GCCAGGG[2]	not provided [RCV001674469]	benign	X	153703307	153703320	Human		name
150544689	CV1296906	single nucleotide variant	NM_001256447.2(BCAP31):c.17C>T (p.Thr6Ile)	not provided [RCV001774196]	uncertain significance	X	153723228	153723228	Human		name
152130132	CV1584008	single nucleotide variant	NM_001256447.2(BCAP31):c.261G>A (p.Gly87=)	not provided [RCV002199207]	likely benign	X	153715622	153715622	Human		name
156447492	CV1945449	single nucleotide variant	NM_001256447.2(BCAP31):c.165C>T (p.Leu55=)	not provided [RCV003119021]	benign	X	153720900	153720900	Human		name
156385181	CV1961178	single nucleotide variant	NM_001256447.2(BCAP31):c.198C>T (p.Ala66=)	not provided [RCV002583436]	likely benign	X	153715685	153715685	Human		name
156417290	CV1970308	single nucleotide variant	NM_001256447.2(BCAP31):c.258C>T (p.Pro86=)	not provided [RCV002590112]	likely benign	X	153715625	153715625	Human		name
156395806	CV1985124	single nucleotide variant	NM_001256447.2(BCAP31):c.204C>T (p.Arg68=)	not provided [RCV002635467]	likely benign	X	153715679	153715679	Human		name
156414210	CV1986540	single nucleotide variant	NM_001256447.2(BCAP31):c.171C>T (p.Val57=)	not provided [RCV002609100]	likely benign	X	153720894	153720894	Human		name
156073641	CV2029135	single nucleotide variant	NM_001256447.2(BCAP31):c.183G>A (p.Leu61=)	not provided [RCV002760399]	likely benign	X	153720882	153720882	Human		name
405238295	CV3167058	single nucleotide variant	NM_001256447.2(BCAP31):c.153C>T (p.Phe51=)	not provided [RCV003854313]	likely benign	X	153720912	153720912	Human		name
597976139	CV3829144	single nucleotide variant	NM_001256447.2(BCAP31):c.138C>T (p.Ser46=)	not provided [RCV005169593]	likely benign	X	153720927	153720927	Human		name
597885854	CV3842235	single nucleotide variant	NM_001256447.2(BCAP31):c.174C>T (p.Ile58=)	not provided [RCV005178870]	benign	X	153720891	153720891	Human		name
15119996	CV758351	single nucleotide variant	NM_001256447.2(BCAP31):c.192C>T (p.Ile64=)	not provided [RCV000918239]	benign	X	153720873	153720873	Human		name
15169092	CV758352	single nucleotide variant	NM_001256447.2(BCAP31):c.144C>G (p.Gly48=)	not provided [RCV000927428]	likely benign	X	153720921	153720921	Human		name
150532161	CV1294346	single nucleotide variant	NM_001256447.2(BCAP31):c.62T>C (p.Leu21Pro)	not provided [RCV001751838]	uncertain significance	X	153723183	153723183	Human		name
151839111	CV1415166	single nucleotide variant	NM_001256447.2(BCAP31):c.85C>T (p.Pro29Ser)	Inborn genetic diseases [RCV003365571]\|not provided [RCV001921317]	likely benign\|uncertain significance	X	153723160	153723160	Human	1	name
151774803	CV1424183	single nucleotide variant	NM_001256447.2(BCAP31):c.594T>C (p.Thr198=)	not provided [RCV002025702]	likely benign	X	153702942	153702942	Human		name
152129057	CV1599878	single nucleotide variant	NM_001256447.2(BCAP31):c.690C>T (p.His230=)	not provided [RCV002136697]	likely benign	X	153702019	153702019	Human		name
152062591	CV1629809	single nucleotide variant	NM_001256447.2(BCAP31):c.429T>C (p.Ala143=)	not provided [RCV002208875]	likely benign	X	153704007	153704007	Human		name
155684272	CV1776871	single nucleotide variant	NM_001256447.2(BCAP31):c.73C>T (p.Pro25Ser)	not provided [RCV002298397]	uncertain significance	X	153723172	153723172	Human		name
155699238	CV1778831	single nucleotide variant	NM_001256447.2(BCAP31):c.67T>C (p.Cys23Arg)	not provided [RCV002299849]	likely pathogenic\|uncertain significance	X	153723178	153723178	Human		name
156131465	CV1977062	single nucleotide variant	NM_001256447.2(BCAP31):c.669C>T (p.Tyr223=)	not provided [RCV002593510]	likely benign	X	153702040	153702040	Human		name
156077495	CV1979363	single nucleotide variant	NM_001256447.2(BCAP31):c.573A>G (p.Leu191=)	not provided [RCV002621434]	likely benign	X	153702963	153702963	Human		name
156140002	CV2044434	single nucleotide variant	NM_001256447.2(BCAP31):c.372G>A (p.Ser124=)	not provided [RCV002800914]	likely benign\|uncertain significance	X	153704064	153704064	Human		name
156009063	CV2046509	single nucleotide variant	NM_001256447.2(BCAP31):c.510C>T (p.Val170=)	not provided [RCV002756580]	likely benign	X	153703026	153703026	Human		name
155963913	CV2089293	single nucleotide variant	NM_001256447.2(BCAP31):c.615T>C (p.Ala205=)	not provided [RCV002881155]	likely benign	X	153702094	153702094	Human		name
155994330	CV2145800	single nucleotide variant	NM_001256447.2(BCAP31):c.78C>A (p.Phe26Leu)	not provided [RCV002996715]	uncertain significance	X	153723167	153723167	Human		name
156066299	CV2170792	single nucleotide variant	NM_001256447.2(BCAP31):c.41C>T (p.Ala14Val)	not provided [RCV003019900]	uncertain significance	X	153723204	153723204	Human		name
156050607	CV2186718	single nucleotide variant	NM_001256447.2(BCAP31):c.355C>T (p.Leu119=)	not provided [RCV003036896]	likely benign	X	153704081	153704081	Human		name
156268625	CV2189377	deletion	NM_001256447.2(BCAP31):c.295del (p.Ala99fs)	not provided [RCV003044373]	pathogenic	X	153715588	153715588	Human		name
243054141	CV2418449	single nucleotide variant	NM_001256447.2(BCAP31):c.73C>A (p.Pro25Thr)	not provided [RCV003154466]	uncertain significance	X	153723172	153723172	Human		name
401921681	CV2824279	single nucleotide variant	NM_001256447.2(BCAP31):c.714T>C (p.Asp238=)	not provided [RCV003432590]	likely benign	X	153700964	153700964	Human		name
401921682	CV2824280	single nucleotide variant	NM_001256447.2(BCAP31):c.41C>G (p.Ala14Gly)	not provided [RCV003432591]	uncertain significance	X	153723204	153723204	Human		name
405064588	CV2878968	single nucleotide variant	NM_001256447.2(BCAP31):c.366C>T (p.Leu122=)	not provided [RCV003548147]	uncertain significance	X	153704070	153704070	Human		name
405027826	CV2928764	single nucleotide variant	NM_001256447.2(BCAP31):c.28A>G (p.Thr10Ala)	not provided [RCV003578135]	uncertain significance	X	153723217	153723217	Human		name
405212720	CV2983980	single nucleotide variant	NM_001256447.2(BCAP31):c.345G>A (p.Leu115=)	not provided [RCV003708829]	likely benign	X	153704091	153704091	Human		name
405131963	CV3021897	single nucleotide variant	NM_001256447.2(BCAP31):c.354C>A (p.Arg118=)	not provided [RCV003701776]	likely benign	X	153704082	153704082	Human		name
405252627	CV3047396	single nucleotide variant	NM_001256447.2(BCAP31):c.309C>G (p.Leu103=)	not provided [RCV003722281]	likely benign	X	153715574	153715574	Human		name
405185908	CV3058621	single nucleotide variant	NM_001256447.2(BCAP31):c.89A>G (p.Lys30Arg)	not provided [RCV003729261]	uncertain significance	X	153723156	153723156	Human		name
597867943	CV3803279	single nucleotide variant	NM_001256447.2(BCAP31):c.447G>A (p.Lys149=)	not provided [RCV005147876]	likely benign	X	153703989	153703989	Human		name
597953900	CV3808955	single nucleotide variant	NM_001256447.2(BCAP31):c.312C>T (p.Tyr104=)	not provided [RCV005161873]	likely benign	X	153715571	153715571	Human		name
597973036	CV3820059	single nucleotide variant	NM_001256447.2(BCAP31):c.366C>A (p.Leu122=)	not provided [RCV005167773]	likely benign	X	153704070	153704070	Human		name
597932227	CV3862017	single nucleotide variant	NM_001256447.2(BCAP31):c.354C>T (p.Arg118=)	not provided [RCV005206881]	likely benign	X	153704082	153704082	Human		name
14396220	CV611935	single nucleotide variant	NM_001256447.2(BCAP31):c.91A>T (p.Arg31Ter)	not provided [RCV000760960]	pathogenic	X	153723154	153723154	Human		name
15109636	CV694816	single nucleotide variant	NM_001256447.2(BCAP31):c.384G>A (p.Thr128=)	BCAP31-related disorder [RCV004549964]\|not provided [RCV000871942]	likely benign	X	153704052	153704052	Human	1	name , trait , alternate_id
15114528	CV743205	single nucleotide variant	NM_001256447.2(BCAP31):c.579C>T (p.Asp193=)	not provided [RCV000894870]	likely benign	X	153702957	153702957	Human		name
8573588	CV79337	single nucleotide variant	NM_001256447.2(BCAP31):c.97C>T (p.Gln33Ter)	Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome [RCV000059316]	pathogenic	X	153720968	153720968	Human	1	name
150521049	CV1289947	single nucleotide variant	NM_001256447.2(BCAP31):c.230C>T (p.Thr77Met)	not provided [RCV001730324]	uncertain significance	X	153715653	153715653	Human		name
151836706	CV1466462	single nucleotide variant	NM_001256447.2(BCAP31):c.292C>T (p.Arg98Cys)	not provided [RCV001902373]	uncertain significance	X	153715591	153715591	Human		name
156106308	CV1953682	single nucleotide variant	NM_001256447.2(BCAP31):c.199G>A (p.Val67Met)	not provided [RCV002571031]	uncertain significance	X	153715684	153715684	Human		name
156234924	CV1976820	single nucleotide variant	NM_001256447.2(BCAP31):c.293G>A (p.Arg98His)	not provided [RCV002596942]	uncertain significance	X	153715590	153715590	Human		name
156383148	CV2005162	single nucleotide variant	NM_001256447.2(BCAP31):c.211C>T (p.Arg71Trp)	not provided [RCV002653798]	uncertain significance	X	153715672	153715672	Human		name
156117596	CV2055132	duplication	NM_001256447.2(BCAP31):c.720dup (p.Met241fs)	not provided [RCV002825171]	uncertain significance	X	153700957	153700958	Human		name
402487855	CV2941510	single nucleotide variant	NM_001256447.2(BCAP31):c.202C>T (p.Arg68Cys)	not provided [RCV003660256]	uncertain significance	X	153715681	153715681	Human		name
405246331	CV2965642	single nucleotide variant	NM_001256447.2(BCAP31):c.118C>A (p.Leu40Met)	not provided [RCV003685314]	uncertain significance	X	153720947	153720947	Human		name
405250151	CV2997279	single nucleotide variant	NM_001256447.2(BCAP31):c.227T>C (p.Val76Ala)	not provided [RCV003721543]	uncertain significance	X	153715656	153715656	Human		name
405240406	CV3060786	single nucleotide variant	NM_001256447.2(BCAP31):c.212G>A (p.Arg71Gln)	Inborn genetic diseases [RCV004374157]\|not provided [RCV003737144]	likely benign\|uncertain significance	X	153715671	153715671	Human	1	name
405706330	CV3301701	single nucleotide variant	NM_001256447.2(BCAP31):c.116G>A (p.Arg39Gln)	Inborn genetic diseases [RCV004426128]	likely benign	X	153720949	153720949	Human	1	name
405706337	CV3301702	single nucleotide variant	NM_001256447.2(BCAP31):c.205G>A (p.Glu69Lys)	Inborn genetic diseases [RCV004426129]	uncertain significance	X	153715678	153715678	Human	1	name
407459084	CV3496707	single nucleotide variant	NM_001256447.2(BCAP31):c.247C>T (p.Gln83Ter)	Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome [RCV004698417]	likely pathogenic	X	153715636	153715636	Human	1	name
408386724	CV3524197	single nucleotide variant	NM_001256447.2(BCAP31):c.155T>C (p.Phe52Ser)	not provided [RCV004768071]\|not specified [RCV005407344]	uncertain significance	X	153720910	153720910	Human		name
12741813	CV361084	single nucleotide variant	NM_001256447.2(BCAP31):c.119T>C (p.Leu40Pro)	Global developmental delay [RCV000415173]\|Inborn genetic diseases [RCV002521452]	uncertain significance	X	153720946	153720946	Human	4	name
597952059	CV3798478	single nucleotide variant	NM_001256447.2(BCAP31):c.218A>T (p.Tyr73Phe)	not provided [RCV005136259]	uncertain significance	X	153715665	153715665	Human		name
598262980	CV3949109	single nucleotide variant	NM_001256447.2(BCAP31):c.166A>G (p.Ile56Val)	Inborn genetic diseases [RCV005300908]	uncertain significance	X	153720899	153720899	Human	1	name
15100133	CV758353	single nucleotide variant	NM_001256447.2(BCAP31):c.115C>T (p.Arg39Trp)	not provided [RCV000914561]	likely benign	X	153720950	153720950	Human		name
126744137	CV1018932	single nucleotide variant	NM_001256447.2(BCAP31):c.492C>G (p.Asp164Glu)	Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome [RCV001330371]	uncertain significance	X	153703044	153703044	Human	1	name
150411261	CV1196334	single nucleotide variant	NM_001256447.2(BCAP31):c.361A>T (p.Thr121Ser)	not provided [RCV001573583]	likely benign	X	153704075	153704075	Human		name
150474374	CV1234440	insertion	NM_001256447.2(BCAP31):c.-45+321_-45+322insAC	not provided [RCV001651760]	benign	X	153724012	153724013	Human		name
150535133	CV1293679	single nucleotide variant	NM_001256447.2(BCAP31):c.352C>T (p.Arg118Cys)	not provided [RCV001757956]	uncertain significance	X	153704084	153704084	Human		name
150535136	CV1293683	single nucleotide variant	NM_001256447.2(BCAP31):c.452T>C (p.Met151Thr)	not provided [RCV001757960]	uncertain significance	X	153703984	153703984	Human		name
151663244	CV1331010	single nucleotide variant	NM_001256447.2(BCAP31):c.526A>T (p.Lys176Ter)	BCAP31-related disorder [RCV001825183]	not provided	X	153703010	153703010	Human		name , trait , alternate_id
151772268	CV1366546	single nucleotide variant	NM_001256447.2(BCAP31):c.313A>G (p.Ile105Val)	not provided [RCV001929639]	uncertain significance	X	153715570	153715570	Human		name
151830552	CV1391729	single nucleotide variant	NM_001256447.2(BCAP31):c.716G>A (p.Gly239Asp)	Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome [RCV003329175]\|not provided [RCV002050685]	uncertain significance	X	153700962	153700962	Human	1	name
151752886	CV1407215	single nucleotide variant	NM_001256447.2(BCAP31):c.391G>C (p.Ala131Pro)	not provided [RCV002023571]	uncertain significance	X	153704045	153704045	Human		name
151728283	CV1409990	single nucleotide variant	NM_001256447.2(BCAP31):c.548G>T (p.Ser183Ile)	not provided [RCV001910606]	uncertain significance	X	153702988	153702988	Human		name
151751369	CV1412117	single nucleotide variant	NM_001256447.2(BCAP31):c.437C>T (p.Ala146Val)	not provided [RCV001927550]	uncertain significance	X	153703999	153703999	Human		name
151774000	CV1424186	single nucleotide variant	NM_001256447.2(BCAP31):c.353G>A (p.Arg118His)	not provided [RCV002045516]	uncertain significance	X	153704083	153704083	Human		name
156202549	CV1916872	single nucleotide variant	NM_001256447.2(BCAP31):c.619A>G (p.Asn207Asp)	Inborn genetic diseases [RCV002595757]\|not provided [RCV002606252]	likely benign\|uncertain significance	X	153702090	153702090	Human	1	name
156416922	CV1919050	single nucleotide variant	NM_001256447.2(BCAP31):c.398A>G (p.Asn133Ser)	Inborn genetic diseases [RCV003250780]\|not provided [RCV002610430]	likely benign\|uncertain significance	X	153704038	153704038	Human	1	name
156436944	CV1936769	single nucleotide variant	NM_001256447.2(BCAP31):c.706G>A (p.Ala236Thr)	not provided [RCV003106470]	benign	X	153700972	153700972	Human		name
156437070	CV1936898	single nucleotide variant	NM_001256447.2(BCAP31):c.719C>T (p.Pro240Leu)	Inborn genetic diseases [RCV004604926]\|not provided [RCV003106600]	likely benign\|uncertain significance	X	153700959	153700959	Human	1	name
156331056	CV1954095	single nucleotide variant	NM_001256447.2(BCAP31):c.662A>T (p.Lys221Met)	not provided [RCV002579999]	uncertain significance	X	153702047	153702047	Human		name
156276378	CV1954711	single nucleotide variant	NM_001256447.2(BCAP31):c.493G>A (p.Gly165Arg)	Inborn genetic diseases [RCV003269185]\|not provided [RCV002577340]	uncertain significance	X	153703043	153703043	Human	1	name
156324104	CV1988774	single nucleotide variant	NM_001256447.2(BCAP31):c.676T>G (p.Leu226Val)	not provided [RCV002649441]	uncertain significance	X	153702033	153702033	Human		name
156374656	CV2003909	single nucleotide variant	NM_001256447.2(BCAP31):c.374A>G (p.Gln125Arg)	not provided [RCV002653194]	uncertain significance	X	153704062	153704062	Human		name
155909971	CV2027923	single nucleotide variant	NM_001256447.2(BCAP31):c.722T>C (p.Met241Thr)	not provided [RCV002726726]	uncertain significance	X	153700956	153700956	Human		name
156324166	CV2053971	single nucleotide variant	NM_001256447.2(BCAP31):c.472A>G (p.Lys158Glu)	not provided [RCV002810282]	uncertain significance	X	153703964	153703964	Human		name
156042747	CV2071695	single nucleotide variant	NM_001256447.2(BCAP31):c.540G>C (p.Glu180Asp)	not provided [RCV002846162]	uncertain significance	X	153702996	153702996	Human		name
156250203	CV2192757	single nucleotide variant	NM_001256447.2(BCAP31):c.451A>G (p.Met151Val)	not provided [RCV003059998]	uncertain significance	X	153703985	153703985	Human		name
11350651	CV237028	single nucleotide variant	NM_001256447.2(BCAP31):c.383C>T (p.Thr128Met)	BCAP31-related disorder [RCV004547567]\|not provided [RCV000224145]	benign\|likely benign\|conflicting interpretations of pathogenicity	X	153704053	153704053	Human	1	name , trait , alternate_id
243064903	CV2409463	single nucleotide variant	NM_001256447.2(BCAP31):c.709G>C (p.Val237Leu)	Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome [RCV003143753]	uncertain significance	X	153700969	153700969	Human	1	name
402492522	CV2877925	single nucleotide variant	NM_001256447.2(BCAP31):c.719C>G (p.Pro240Arg)	not provided [RCV003545085]	uncertain significance	X	153700959	153700959	Human		name
405117125	CV3020293	single nucleotide variant	NM_001256447.2(BCAP31):c.500A>G (p.Lys167Arg)	not provided [RCV003700358]	uncertain significance	X	153703036	153703036	Human		name
405236572	CV3038143	single nucleotide variant	NM_001256447.2(BCAP31):c.704C>T (p.Ala235Val)	not provided [RCV003712459]	uncertain significance	X	153700974	153700974	Human		name
405080517	CV3050484	single nucleotide variant	NM_001256447.2(BCAP31):c.617A>G (p.Glu206Gly)	not provided [RCV003717099]	uncertain significance	X	153702092	153702092	Human		name
405179958	CV3148839	single nucleotide variant	NM_001256447.2(BCAP31):c.637C>T (p.Arg213Trp)	not provided [RCV003858617]	uncertain significance	X	153702072	153702072	Human		name
405258691	CV3194112	single nucleotide variant	NM_001256447.2(BCAP31):c.703G>A (p.Ala235Thr)	BCAP31-related disorder [RCV004548761]	uncertain significance	X	153700975	153700975	Human		name , trait , alternate_id
405706352	CV3301704	single nucleotide variant	NM_001256447.2(BCAP31):c.733G>A (p.Glu245Lys)	Inborn genetic diseases [RCV004426131]\|not provided [RCV004719407]	uncertain significance	X	153700945	153700945	Human	1	name
407495241	CV3417606	single nucleotide variant	NM_001256447.2(BCAP31):c.580G>A (p.Glu194Lys)	Inborn genetic diseases [RCV004605779]	uncertain significance	X	153702956	153702956	Human	1	name
408380814	CV3523668	single nucleotide variant	NM_001256447.2(BCAP31):c.469C>T (p.Leu157Phe)	not provided [RCV004766066]	uncertain significance	X	153703967	153703967	Human		name
597626653	CV3643021	single nucleotide variant	NM_001256447.2(BCAP31):c.550C>G (p.Leu184Val)	Inborn genetic diseases [RCV004965181]	uncertain significance	X	153702986	153702986	Human	1	name
597884551	CV3741223	single nucleotide variant	NM_001256447.2(BCAP31):c.673C>T (p.Arg225Cys)	not provided [RCV005070130]	uncertain significance	X	153702036	153702036	Human		name
597868254	CV3787332	single nucleotide variant	NM_001256447.2(BCAP31):c.400G>T (p.Glu134Ter)	not provided [RCV005122217]	pathogenic	X	153704036	153704036	Human		name
597840236	CV3825284	single nucleotide variant	NM_001256447.2(BCAP31):c.499A>G (p.Lys167Glu)	not provided [RCV005171967]	uncertain significance	X	153703037	153703037	Human		name
597976332	CV3829365	single nucleotide variant	NM_001256447.2(BCAP31):c.443A>G (p.Lys148Arg)	not provided [RCV005169814]	uncertain significance	X	153703993	153703993	Human		name
597975416	CV3832385	single nucleotide variant	NM_001256447.2(BCAP31):c.670G>A (p.Asp224Asn)	not provided [RCV005169122]	uncertain significance	X	153702039	153702039	Human		name
13530276	CV512607	single nucleotide variant	NM_001256447.2(BCAP31):c.739T>C (p.Ter247Gln)	Inborn genetic diseases [RCV000622378]	likely pathogenic\|uncertain significance	X	153700939	153700939	Human	1	name
14349878	CV590805	single nucleotide variant	NM_001256447.2(BCAP31):c.517G>T (p.Ala173Ser)	not provided [RCV001855845]\|not specified [RCV000736067]	likely benign\|uncertain significance	X	153703019	153703019	Human		name
21073830	CV792141	single nucleotide variant	NM_001256447.2(BCAP31):c.415C>T (p.Gln139Ter)	Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome [RCV000990971]	pathogenic	X	153704021	153704021	Human	1	name
38597020	CV801954	single nucleotide variant	NM_001256447.2(BCAP31):c.713A>T (p.Asp238Val)	Inborn genetic diseases [RCV003363041]\|Microcephaly [RCV001252804]\|not provided [RCV003117684]	likely benign\|uncertain significance	X	153700965	153700965	Human	3	name
38597830	CV964572	single nucleotide variant	NM_001256447.2(BCAP31):c.317C>T (p.Ala106Val)	Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome [RCV001253190]	uncertain significance	X	153715566	153715566	Human	1	name
150552332	CV1301290	microsatellite	NM_001256447.2(BCAP31):c.150CTT[1] (p.Phe52del)	not provided [RCV001767700]	uncertain significance	X	153720910	153720912	Human		name
617149798	CV4017358	microsatellite	NM_001256447.2(BCAP31):c.218ATG[2] (p.Asp75del)	not provided [RCV005417015]	uncertain significance	X	153715657	153715659	Human		name
11632622	CV264948	microsatellite	NM_001256447.2(BCAP31):c.309_310del (p.Tyr104fs)	not provided [RCV000270990]	pathogenic	X	153715573	153715574	Human		name
13509384	CV481342	microsatellite	NM_001256447.2(BCAP31):c.365_366del (p.Leu122fs)	Inborn genetic diseases [RCV001266266]\|Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome [RCV000578429]	pathogenic	X	153704070	153704071	Human		name
21075204	CV798197	microsatellite	NM_001256447.2(BCAP31):c.733_736del (p.Glu245fs)	not provided [RCV000996041]	uncertain significance	X	153700942	153700945	Human		name
150435567	CV1221674	indel	NM_001256447.2(BCAP31):c.-45+319_-45+320delinsTTAC	not provided [RCV001609362]	benign	X	153724014	153724015	Human		name

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