Bms1 Variant Search Result - Rat Genome Database

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183 records found for search term Bms1

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
405256295	CV3203590	single nucleotide variant	NM_014753.4(BMS1):c.779+8A>G	BMS1-related disorder [RCV003939829]	likely benign	10	42791777	42791777	Human		name , trait , alternate_id
405295299	CV3211169	single nucleotide variant	NM_014753.4(BMS1):c.779+7T>A	BMS1-related disorder [RCV003937155]	likely benign	10	42791776	42791776	Human		name , trait , alternate_id
15102186	CV775662	single nucleotide variant	NM_014753.4(BMS1):c.902-4C>T	not provided [RCV000936943]	likely benign	10	42792953	42792953	Human		name
15145366	CV787581	single nucleotide variant	NM_014753.4(BMS1):c.779+9T>C	not provided [RCV000983650]	likely benign	10	42791778	42791778	Human		name
15113739	CV759803	single nucleotide variant	NM_014753.4(BMS1):c.3132+9A>G	BMS1-related disorder [RCV003970444]\|not provided [RCV000917151]	likely benign	10	42822193	42822193	Human	1	name , trait , alternate_id
15200097	CV759971	single nucleotide variant	NM_014753.4(BMS1):c.636+10G>T	not provided [RCV000912743]	likely benign	10	42790521	42790521	Human		name
405265662	CV3220763	single nucleotide variant	NM_014753.4(BMS1):c.3281-10C>T	BMS1-related disorder [RCV003968949]	likely benign	10	42823599	42823599	Human		name , trait , alternate_id
15143737	CV737473	single nucleotide variant	NM_014753.4(BMS1):c.63A>G (p.Lys21=)	not provided [RCV000899887]	likely benign	10	42784457	42784457	Human		name
597719267	CV3643103	single nucleotide variant	NM_014753.4(BMS1):c.177G>A (p.Arg59=)	not specified [RCV004887607]	likely benign	10	42785482	42785482	Human		name
15180070	CV737474	single nucleotide variant	NM_014753.4(BMS1):c.144G>A (p.Gln48=)	not provided [RCV000907264]	likely benign	10	42784538	42784538	Human		name
15128089	CV752090	single nucleotide variant	NM_014753.4(BMS1):c.114G>A (p.Arg38=)	not provided [RCV000919597]	likely benign	10	42784508	42784508	Human		name
156151807	CV2209307	single nucleotide variant	NM_014753.4(BMS1):c.60G>T (p.Lys20Asn)	not specified [RCV004091701]	uncertain significance	10	42784454	42784454	Human		name
405265244	CV3185544	single nucleotide variant	NM_014753.4(BMS1):c.771G>T (p.Leu257=)	not provided [RCV003886108]	likely benign	10	42791761	42791761	Human		name
405256809	CV3186088	single nucleotide variant	NM_014753.4(BMS1):c.867A>G (p.Ala289=)	BMS1-related disorder [RCV003909218]\|not provided [RCV003885164]	likely benign	10	42792580	42792580	Human	1	name , trait , alternate_id
405282688	CV3213051	deletion	NM_014753.4(BMS1):c.3457-14_3457-11del	BMS1-related disorder [RCV003957145]	likely benign	10	42830244	42830247	Human		name , trait , alternate_id
405763096	CV3291317	single nucleotide variant	NM_014753.4(BMS1):c.86T>G (p.Leu29Arg)	not specified [RCV004433968]	uncertain significance	10	42784480	42784480	Human		name
597719294	CV3643106	single nucleotide variant	NM_014753.4(BMS1):c.95G>C (p.Gly32Ala)	not specified [RCV004887610]	uncertain significance	10	42784489	42784489	Human		name
155915473	CV2200324	single nucleotide variant	NM_014753.4(BMS1):c.154C>T (p.Arg52Trp)	not specified [RCV004076657]	uncertain significance	10	42784548	42784548	Human		name
156067892	CV2317953	single nucleotide variant	NM_014753.4(BMS1):c.251T>C (p.Val84Ala)	not specified [RCV004177075]	uncertain significance	10	42785556	42785556	Human		name
156220257	CV2393702	single nucleotide variant	NM_014753.4(BMS1):c.199A>G (p.Lys67Glu)	not specified [RCV004231505]	uncertain significance	10	42785504	42785504	Human		name
405261512	CV3186118	single nucleotide variant	NM_014753.4(BMS1):c.1374C>T (p.Asn458=)	not provided [RCV003885194]	likely benign	10	42796618	42796618	Human		name
405291558	CV3205850	single nucleotide variant	NM_014753.4(BMS1):c.2940A>T (p.Ala980=)	BMS1-related disorder [RCV003963972]	likely benign	10	42820678	42820678	Human		name , trait , alternate_id
405287055	CV3210527	single nucleotide variant	NM_014753.4(BMS1):c.1749A>G (p.Thr583=)	BMS1-related disorder [RCV003924311]	benign	10	42796993	42796993	Human		name , trait , alternate_id
405261187	CV3216356	single nucleotide variant	NM_014753.4(BMS1):c.1515C>T (p.Asp505=)	BMS1-related disorder [RCV003944373]	likely benign	10	42796759	42796759	Human		name , trait , alternate_id
405288050	CV3218059	single nucleotide variant	NM_014753.4(BMS1):c.1197G>A (p.Lys399=)	BMS1-related disorder [RCV003982183]	benign	10	42793959	42793959	Human		name , trait , alternate_id
597719259	CV3643102	single nucleotide variant	NM_014753.4(BMS1):c.155G>A (p.Arg52Gln)	not specified [RCV004887606]	uncertain significance	10	42784549	42784549	Human		name
598190837	CV4008887	deletion	NM_014753.4(BMS1):c.883del (p.Ser295fs)	Aplasia cutis congenita [RCV005396388]	uncertain significance	10	42792593	42792593	Human	2	name
15178471	CV701339	single nucleotide variant	NM_014753.4(BMS1):c.2589C>T (p.Arg863=)	not provided [RCV000951287]	benign	10	42820244	42820244	Human		name
15166474	CV701340	single nucleotide variant	NM_014753.4(BMS1):c.2826C>T (p.Ile942=)	not provided [RCV000948843]	benign	10	42820564	42820564	Human		name
15180773	CV723942	single nucleotide variant	NM_014753.4(BMS1):c.112C>T (p.Arg38Trp)	not provided [RCV000885606]	benign	10	42784506	42784506	Human		name
15143093	CV737477	single nucleotide variant	NM_014753.4(BMS1):c.1320A>G (p.Gly440=)	not provided [RCV000899783]	benign	10	42796564	42796564	Human		name
15127662	CV737478	single nucleotide variant	NM_014753.4(BMS1):c.1500A>G (p.Ala500=)	BMS1-related disorder [RCV003922890]\|not provided [RCV000897148]	benign	10	42796744	42796744	Human	1	name , trait , alternate_id
15149539	CV737479	single nucleotide variant	NM_014753.4(BMS1):c.1674T>C (p.Ser558=)	not provided [RCV000900954]	benign	10	42796918	42796918	Human		name
15147894	CV752091	single nucleotide variant	NM_014753.4(BMS1):c.1554G>A (p.Ala518=)	not provided [RCV000922996]	likely benign	10	42796798	42796798	Human		name
15159452	CV752092	single nucleotide variant	NM_014753.4(BMS1):c.1749A>T (p.Thr583=)	not provided [RCV000925284]	likely benign	10	42796993	42796993	Human		name
15201684	CV752093	single nucleotide variant	NM_014753.4(BMS1):c.1983G>A (p.Thr661=)	not provided [RCV000913211]	benign	10	42797227	42797227	Human		name
15192475	CV767711	single nucleotide variant	NM_014753.4(BMS1):c.1011G>A (p.Ala337=)	not provided [RCV000933092]	likely benign	10	42793066	42793066	Human		name
15185955	CV767712	single nucleotide variant	NM_014753.4(BMS1):c.1080C>T (p.His360=)	not provided [RCV000931209]	likely benign	10	42793135	42793135	Human		name
15172119	CV767713	single nucleotide variant	NM_014753.4(BMS1):c.1605G>A (p.Lys535=)	not provided [RCV000928045]	likely benign	10	42796849	42796849	Human		name
15110160	CV783585	single nucleotide variant	NM_014753.4(BMS1):c.260T>C (p.Val87Ala)	BMS1-related disorder [RCV003906099]\|not provided [RCV000977380]	likely benign	10	42785565	42785565	Human	1	name , trait , alternate_id
156367064	CV2203457	single nucleotide variant	NM_014753.4(BMS1):c.631T>C (p.Tyr211His)	not specified [RCV004072670]	uncertain significance	10	42790506	42790506	Human		name
156317661	CV2251077	single nucleotide variant	NM_014753.4(BMS1):c.941C>A (p.Pro314Gln)	not specified [RCV004123623]	uncertain significance	10	42792996	42792996	Human		name
156306408	CV2252729	single nucleotide variant	NM_014753.4(BMS1):c.826T>C (p.Cys276Arg)	not specified [RCV004118582]	uncertain significance	10	42792539	42792539	Human		name
155967295	CV2261142	single nucleotide variant	NM_014753.4(BMS1):c.926A>G (p.Asp309Gly)	not specified [RCV004128040]	uncertain significance	10	42792981	42792981	Human		name
155995037	CV2286486	single nucleotide variant	NM_014753.4(BMS1):c.559G>A (p.Asp187Asn)	not specified [RCV004139991]	uncertain significance	10	42790434	42790434	Human		name
156197706	CV2306820	single nucleotide variant	NM_014753.4(BMS1):c.377G>A (p.Arg126His)	not specified [RCV004159387]	uncertain significance	10	42787177	42787177	Human		name
156341988	CV2368493	single nucleotide variant	NM_014753.4(BMS1):c.376C>T (p.Arg126Cys)	not specified [RCV004221294]	uncertain significance	10	42787176	42787176	Human		name
156092596	CV2381902	single nucleotide variant	NM_014753.4(BMS1):c.812G>A (p.Arg271Gln)	not specified [RCV004225843]	uncertain significance	10	42792525	42792525	Human		name
329379073	CV2443284	single nucleotide variant	NM_014753.4(BMS1):c.323G>A (p.Arg108Gln)	not specified [RCV004260086]	uncertain significance	10	42785628	42785628	Human		name
401769595	CV2689844	single nucleotide variant	NM_014753.4(BMS1):c.516A>C (p.Gln172His)	not specified [RCV004297744]	uncertain significance	10	42790391	42790391	Human		name
405295272	CV3211187	single nucleotide variant	NM_014753.4(BMS1):c.737C>T (p.Pro246Leu)	BMS1-related disorder [RCV003937171]	likely benign	10	42791727	42791727	Human		name , trait , alternate_id
405763037	CV3291307	single nucleotide variant	NM_014753.4(BMS1):c.356C>T (p.Thr119Met)	not specified [RCV004433958]	uncertain significance	10	42785661	42785661	Human		name
405763067	CV3291312	single nucleotide variant	NM_014753.4(BMS1):c.449T>C (p.Val150Ala)	not specified [RCV004433963]	uncertain significance	10	42790324	42790324	Human		name
405763072	CV3291313	single nucleotide variant	NM_014753.4(BMS1):c.815C>G (p.Thr272Arg)	not specified [RCV004433964]	uncertain significance	10	42792528	42792528	Human		name
405763078	CV3291314	single nucleotide variant	NM_014753.4(BMS1):c.817A>G (p.Asn273Asp)	not specified [RCV004433965]	uncertain significance	10	42792530	42792530	Human		name
405763084	CV3291315	single nucleotide variant	NM_014753.4(BMS1):c.824A>G (p.Lys275Arg)	not specified [RCV004433966]	uncertain significance	10	42792537	42792537	Human		name
405763090	CV3291316	single nucleotide variant	NM_014753.4(BMS1):c.851G>A (p.Gly284Asp)	not specified [RCV004433967]	uncertain significance	10	42792564	42792564	Human		name
407474228	CV3424013	single nucleotide variant	NM_014753.4(BMS1):c.833G>A (p.Arg278Gln)	not specified [RCV004600561]	uncertain significance	10	42792546	42792546	Human		name
407474271	CV3424023	single nucleotide variant	NM_014753.4(BMS1):c.442G>C (p.Asp148His)	not specified [RCV004600571]	uncertain significance	10	42787242	42787242	Human		name
597719161	CV3643089	single nucleotide variant	NM_014753.4(BMS1):c.764A>G (p.Tyr255Cys)	not specified [RCV004887593]	uncertain significance	10	42791754	42791754	Human		name
597719165	CV3643090	single nucleotide variant	NM_014753.4(BMS1):c.847T>C (p.Tyr283His)	not specified [RCV004887594]	uncertain significance	10	42792560	42792560	Human		name
597719206	CV3643095	single nucleotide variant	NM_014753.4(BMS1):c.952G>A (p.Ala318Thr)	not specified [RCV004887599]	uncertain significance	10	42793007	42793007	Human		name
597719237	CV3643099	single nucleotide variant	NM_014753.4(BMS1):c.593C>T (p.Thr198Ile)	not specified [RCV004887603]	uncertain significance	10	42790468	42790468	Human		name
597719284	CV3643105	single nucleotide variant	NM_014753.4(BMS1):c.986A>G (p.Asn329Ser)	not specified [RCV004887609]	uncertain significance	10	42793041	42793041	Human		name
598250347	CV3946183	single nucleotide variant	NM_014753.4(BMS1):c.701A>G (p.Asn234Ser)	not specified [RCV005298327]	uncertain significance	10	42791691	42791691	Human		name
598250354	CV3946184	single nucleotide variant	NM_014753.4(BMS1):c.868C>A (p.His290Asn)	not specified [RCV005298328]	uncertain significance	10	42792581	42792581	Human		name
15125929	CV712360	single nucleotide variant	NM_014753.4(BMS1):c.710G>A (p.Arg237His)	BMS1-related disorder [RCV003905861]\|not provided [RCV000963661]	benign	10	42791700	42791700	Human	1	name , trait , alternate_id
15130884	CV712361	single nucleotide variant	NM_014753.4(BMS1):c.848A>G (p.Tyr283Cys)	BMS1-related disorder [RCV003960759]\|not provided [RCV000964510]	likely benign	10	42792561	42792561	Human	1	name , trait , alternate_id
15105376	CV712365	single nucleotide variant	NM_014753.4(BMS1):c.3324G>A (p.Ala1108=)	BMS1-related disorder [RCV003935924]\|not provided [RCV000959872]	benign	10	42823652	42823652	Human	1	name , trait , alternate_id
15192732	CV723943	single nucleotide variant	NM_014753.4(BMS1):c.3546C>T (p.Thr1182=)	not provided [RCV000888744]	likely benign	10	42830350	42830350	Human		name
15171932	CV723944	single nucleotide variant	NM_014753.4(BMS1):c.3669G>A (p.Lys1223=)	BMS1-related disorder [RCV003920593]\|not provided [RCV000883745]	likely benign	10	42830916	42830916	Human	1	name , trait , alternate_id
15160228	CV723945	single nucleotide variant	NM_014753.4(BMS1):c.3834G>A (p.Glu1278=)	BMS1-related disorder [RCV003920532]\|not provided [RCV000881342]	likely benign	10	42831081	42831081	Human	1	name , trait , alternate_id
15167871	CV737475	single nucleotide variant	NM_014753.4(BMS1):c.316T>C (p.Phe106Leu)	not provided [RCV000904738]	likely benign	10	42785621	42785621	Human		name
15188659	CV737476	single nucleotide variant	NM_014753.4(BMS1):c.641C>T (p.Ala214Val)	BMS1-related disorder [RCV003932955]\|not provided [RCV000909431]	benign\|likely benign	10	42791631	42791631	Human	1	name , trait , alternate_id
15108348	CV767714	single nucleotide variant	NM_014753.4(BMS1):c.3762C>A (p.Leu1254=)	not provided [RCV000938137]	likely benign	10	42831009	42831009	Human		name
150464188	CV1265627	single nucleotide variant	NM_014753.4(BMS1):c.2225C>T (p.Pro742Leu)	Aplasia cutis congenita [RCV001682624]	uncertain significance	10	42798603	42798603	Human	2	name
9586961	CV165720	single nucleotide variant	NM_014753.4(BMS1):c.2789G>A (p.Arg930His)	Aplasia cutis congenita [RCV000144047]	pathogenic	10	42820527	42820527	Human	2	name
156324474	CV2198714	single nucleotide variant	NM_014753.4(BMS1):c.1815A>T (p.Glu605Asp)	not specified [RCV004075723]	uncertain significance	10	42797059	42797059	Human		name
155916913	CV2202091	single nucleotide variant	NM_014753.4(BMS1):c.1081G>A (p.Val361Ile)	not specified [RCV004078050]	uncertain significance	10	42793136	42793136	Human		name
156239891	CV2217400	single nucleotide variant	NM_014753.4(BMS1):c.1363G>A (p.Gly455Arg)	not specified [RCV004087832]	likely benign	10	42796607	42796607	Human		name
156193236	CV2223251	single nucleotide variant	NM_014753.4(BMS1):c.1624G>A (p.Ala542Thr)	not specified [RCV004105872]	uncertain significance	10	42796868	42796868	Human		name
156190698	CV2226930	single nucleotide variant	NM_014753.4(BMS1):c.2923C>T (p.His975Tyr)	not specified [RCV004103901]	uncertain significance	10	42820661	42820661	Human		name
155973970	CV2235607	single nucleotide variant	NM_014753.4(BMS1):c.2051A>G (p.Gln684Arg)	not specified [RCV004111762]	uncertain significance	10	42797485	42797485	Human		name
155944740	CV2237857	single nucleotide variant	NM_014753.4(BMS1):c.1178C>T (p.Thr393Met)	not specified [RCV004109091]	uncertain significance	10	42793940	42793940	Human		name
155901729	CV2274566	single nucleotide variant	NM_014753.4(BMS1):c.1046A>C (p.Lys349Thr)	not specified [RCV004138965]	uncertain significance	10	42793101	42793101	Human		name
155916489	CV2282103	single nucleotide variant	NM_014753.4(BMS1):c.1388A>G (p.Glu463Gly)	not specified [RCV004138847]	uncertain significance	10	42796632	42796632	Human		name
156116851	CV2283026	single nucleotide variant	NM_014753.4(BMS1):c.1006T>A (p.Tyr336Asn)	not specified [RCV004143647]	uncertain significance	10	42793061	42793061	Human		name
156180651	CV2288111	single nucleotide variant	NM_014753.4(BMS1):c.1850T>C (p.Leu617Pro)	not specified [RCV004149643]	uncertain significance	10	42797094	42797094	Human		name
156185334	CV2292310	single nucleotide variant	NM_014753.4(BMS1):c.2282G>A (p.Gly761Glu)	not specified [RCV004148339]	uncertain significance	10	42802171	42802171	Human		name
156196186	CV2306702	single nucleotide variant	NM_014753.4(BMS1):c.1886T>C (p.Leu629Pro)	not specified [RCV004159293]	uncertain significance	10	42797130	42797130	Human		name
155970871	CV2309230	single nucleotide variant	NM_014753.4(BMS1):c.1084T>C (p.Phe362Leu)	not specified [RCV004165400]	uncertain significance	10	42793139	42793139	Human		name
156348211	CV2312673	single nucleotide variant	NM_014753.4(BMS1):c.2279C>T (p.Thr760Ile)	not specified [RCV004169405]	uncertain significance	10	42802168	42802168	Human		name
156303548	CV2331926	single nucleotide variant	NM_014753.4(BMS1):c.2588G>A (p.Arg863His)	not specified [RCV004186578]	uncertain significance	10	42820243	42820243	Human		name
156344727	CV2346190	single nucleotide variant	NM_014753.4(BMS1):c.1876G>A (p.Gly626Ser)	not specified [RCV004201645]	uncertain significance	10	42797120	42797120	Human		name
156051020	CV2367670	single nucleotide variant	NM_014753.4(BMS1):c.1129A>C (p.Ile377Leu)	not specified [RCV004211589]	uncertain significance	10	42793891	42793891	Human		name
156115197	CV2397255	single nucleotide variant	NM_014753.4(BMS1):c.1402G>A (p.Glu468Lys)	not specified [RCV004238789]	uncertain significance	10	42796646	42796646	Human		name
329361606	CV2437689	single nucleotide variant	NM_014753.4(BMS1):c.1270A>G (p.Thr424Ala)	not specified [RCV004261002]	uncertain significance	10	42796514	42796514	Human		name
329390413	CV2450289	single nucleotide variant	NM_014753.4(BMS1):c.2714A>T (p.Tyr905Phe)	not specified [RCV004271384]	uncertain significance	10	42820369	42820369	Human		name
329394980	CV2457775	single nucleotide variant	NM_014753.4(BMS1):c.2702T>C (p.Phe901Ser)	not specified [RCV004269607]	uncertain significance	10	42820357	42820357	Human		name
329385817	CV2462393	single nucleotide variant	NM_014753.4(BMS1):c.1030G>C (p.Gly344Arg)	not specified [RCV004268155]	uncertain significance	10	42793085	42793085	Human		name
329393190	CV2466761	single nucleotide variant	NM_014753.4(BMS1):c.2611G>A (p.Asp871Asn)	not specified [RCV004280713]	uncertain significance	10	42820266	42820266	Human		name
401749679	CV2719364	single nucleotide variant	NM_014753.4(BMS1):c.1144A>T (p.Thr382Ser)	not specified [RCV004324993]	uncertain significance	10	42793906	42793906	Human		name
401868585	CV2767281	single nucleotide variant	NM_014753.4(BMS1):c.1124G>A (p.Ser375Asn)	not specified [RCV004349451]	uncertain significance	10	42793886	42793886	Human		name
401893812	CV2767423	single nucleotide variant	NM_014753.4(BMS1):c.2935G>A (p.Gly979Arg)	not specified [RCV004349578]	uncertain significance	10	42820673	42820673	Human		name
401860047	CV2768460	single nucleotide variant	NM_014753.4(BMS1):c.1172G>A (p.Arg391Gln)	not specified [RCV004344347]	uncertain significance	10	42793934	42793934	Human		name
401882692	CV2774817	single nucleotide variant	NM_014753.4(BMS1):c.1892C>T (p.Pro631Leu)	not specified [RCV004343908]	uncertain significance	10	42797136	42797136	Human		name
401882534	CV2778381	single nucleotide variant	NM_014753.4(BMS1):c.2050C>G (p.Gln684Glu)	not specified [RCV004344065]	uncertain significance	10	42797484	42797484	Human		name
401880992	CV2787774	single nucleotide variant	NM_014753.4(BMS1):c.2989C>A (p.Gln997Lys)	not specified [RCV004356679]	uncertain significance	10	42820972	42820972	Human		name
405283276	CV3191310	single nucleotide variant	NM_014753.4(BMS1):c.1645G>A (p.Ala549Thr)	BMS1-related disorder [RCV003921708]	benign	10	42796889	42796889	Human		name , trait , alternate_id
405283593	CV3191745	single nucleotide variant	NM_014753.4(BMS1):c.2341G>T (p.Gly781Cys)	BMS1-related disorder [RCV003921845]	likely benign	10	42816610	42816610	Human		name , trait , alternate_id
405275987	CV3199546	single nucleotide variant	NM_014753.4(BMS1):c.1255C>G (p.Gln419Glu)	BMS1-related disorder [RCV003916943]	benign	10	42796499	42796499	Human		name , trait , alternate_id
405278489	CV3221913	single nucleotide variant	NM_014753.4(BMS1):c.2590G>A (p.Ala864Thr)	BMS1-related disorder [RCV003976462]	benign	10	42820245	42820245	Human		name , trait , alternate_id
405762917	CV3291287	single nucleotide variant	NM_014753.4(BMS1):c.1031G>C (p.Gly344Ala)	not specified [RCV004433938]	uncertain significance	10	42793086	42793086	Human		name
405762924	CV3291288	single nucleotide variant	NM_014753.4(BMS1):c.1066C>T (p.Leu356Phe)	not specified [RCV004433939]	uncertain significance	10	42793121	42793121	Human		name
405762929	CV3291289	single nucleotide variant	NM_014753.4(BMS1):c.1157A>G (p.Lys386Arg)	not specified [RCV004433940]	uncertain significance	10	42793919	42793919	Human		name
405762941	CV3291291	single nucleotide variant	NM_014753.4(BMS1):c.1214A>G (p.Asp405Gly)	not specified [RCV004433942]	uncertain significance	10	42793976	42793976	Human		name
405762947	CV3291292	single nucleotide variant	NM_014753.4(BMS1):c.1271C>G (p.Thr424Ser)	not specified [RCV004433943]	uncertain significance	10	42796515	42796515	Human		name
405762952	CV3291293	single nucleotide variant	NM_014753.4(BMS1):c.1433T>C (p.Met478Thr)	not specified [RCV004433944]	uncertain significance	10	42796677	42796677	Human		name
405762958	CV3291294	single nucleotide variant	NM_014753.4(BMS1):c.1456C>T (p.Arg486Trp)	not specified [RCV004433945]	uncertain significance	10	42796700	42796700	Human		name
405762973	CV3291296	single nucleotide variant	NM_014753.4(BMS1):c.1544A>T (p.Glu515Val)	not specified [RCV004433947]	uncertain significance	10	42796788	42796788	Human		name
405762980	CV3291297	single nucleotide variant	NM_014753.4(BMS1):c.1600G>C (p.Glu534Gln)	not specified [RCV004433948]	uncertain significance	10	42796844	42796844	Human		name
405762987	CV3291298	single nucleotide variant	NM_014753.4(BMS1):c.1702C>G (p.Leu568Val)	not specified [RCV004433949]	uncertain significance	10	42796946	42796946	Human		name
405762993	CV3291299	single nucleotide variant	NM_014753.4(BMS1):c.2098G>A (p.Asp700Asn)	not specified [RCV004433950]	uncertain significance	10	42798476	42798476	Human		name
405762999	CV3291300	single nucleotide variant	NM_014753.4(BMS1):c.2644C>T (p.Pro882Ser)	not specified [RCV004433951]	uncertain significance	10	42820299	42820299	Human		name
405763006	CV3291301	single nucleotide variant	NM_014753.4(BMS1):c.2660G>A (p.Arg887His)	not specified [RCV004433952]	uncertain significance	10	42820315	42820315	Human		name
405763012	CV3291302	single nucleotide variant	NM_014753.4(BMS1):c.2755G>A (p.Val919Ile)	not specified [RCV004433953]	uncertain significance	10	42820410	42820410	Human		name
405763018	CV3291303	single nucleotide variant	NM_014753.4(BMS1):c.2793G>T (p.Trp931Cys)	not specified [RCV004433954]	uncertain significance	10	42820531	42820531	Human		name
407474213	CV3424009	single nucleotide variant	NM_014753.4(BMS1):c.1804G>A (p.Ala602Thr)	not specified [RCV004600557]	likely benign	10	42797048	42797048	Human		name
407474232	CV3424014	single nucleotide variant	NM_014753.4(BMS1):c.1877G>A (p.Gly626Asp)	not specified [RCV004600562]	uncertain significance	10	42797121	42797121	Human		name
407474241	CV3424016	single nucleotide variant	NM_014753.4(BMS1):c.1997A>G (p.Lys666Arg)	not specified [RCV004600564]	uncertain significance	10	42797431	42797431	Human		name
407474245	CV3424017	single nucleotide variant	NM_014753.4(BMS1):c.2054C>T (p.Ala685Val)	not specified [RCV004600565]	uncertain significance	10	42797488	42797488	Human		name
407474251	CV3424018	single nucleotide variant	NM_014753.4(BMS1):c.1282C>T (p.Arg428Cys)	not specified [RCV004600566]	uncertain significance	10	42796526	42796526	Human		name
407474259	CV3424020	single nucleotide variant	NM_014753.4(BMS1):c.2684G>T (p.Cys895Phe)	not specified [RCV004600568]	uncertain significance	10	42820339	42820339	Human		name
407474268	CV3424022	single nucleotide variant	NM_014753.4(BMS1):c.2684G>A (p.Cys895Tyr)	not specified [RCV004600570]	uncertain significance	10	42820339	42820339	Human		name
597719136	CV3643086	single nucleotide variant	NM_014753.4(BMS1):c.1982C>T (p.Thr661Met)	not specified [RCV004887590]	uncertain significance	10	42797226	42797226	Human		name
597719152	CV3643088	single nucleotide variant	NM_014753.4(BMS1):c.2608G>T (p.Asp870Tyr)	not specified [RCV004887592]	uncertain significance	10	42820263	42820263	Human		name
597719172	CV3643091	single nucleotide variant	NM_014753.4(BMS1):c.1483G>C (p.Glu495Gln)	not specified [RCV004887595]	uncertain significance	10	42796727	42796727	Human		name
597719191	CV3643093	single nucleotide variant	NM_014753.4(BMS1):c.1281G>A (p.Met427Ile)	not specified [RCV004887597]	uncertain significance	10	42796525	42796525	Human		name
597719198	CV3643094	single nucleotide variant	NM_014753.4(BMS1):c.1362C>A (p.Asp454Glu)	not specified [RCV004887598]	uncertain significance	10	42796606	42796606	Human		name
597719215	CV3643096	single nucleotide variant	NM_014753.4(BMS1):c.2446G>A (p.Asp816Asn)	not specified [RCV004887600]	likely benign	10	42817360	42817360	Human		name
597719221	CV3643097	single nucleotide variant	NM_014753.4(BMS1):c.1286G>A (p.Arg429Gln)	not specified [RCV004887601]	uncertain significance	10	42796530	42796530	Human		name
597719229	CV3643098	single nucleotide variant	NM_014753.4(BMS1):c.1547G>T (p.Gly516Val)	not specified [RCV004887602]	uncertain significance	10	42796791	42796791	Human		name
597719276	CV3643104	single nucleotide variant	NM_014753.4(BMS1):c.1283G>A (p.Arg428His)	not specified [RCV004887608]	uncertain significance	10	42796527	42796527	Human		name
597719310	CV3643108	single nucleotide variant	NM_014753.4(BMS1):c.2752A>G (p.Asn918Asp)	not specified [RCV004887612]	uncertain significance	10	42820407	42820407	Human		name
597719318	CV3643109	single nucleotide variant	NM_014753.4(BMS1):c.1436C>T (p.Ala479Val)	not specified [RCV004887613]	uncertain significance	10	42796680	42796680	Human		name
598243421	CV3894894	single nucleotide variant	NM_014753.4(BMS1):c.2194T>G (p.Leu732Val)	Aplasia cutis congenita [RCV005365535]	uncertain significance	10	42798572	42798572	Human	2	name
598162522	CV3946181	single nucleotide variant	NM_014753.4(BMS1):c.1732G>A (p.Asp578Asn)	not specified [RCV005307243]	uncertain significance	10	42796976	42796976	Human		name
598250362	CV3946185	single nucleotide variant	NM_014753.4(BMS1):c.2414T>C (p.Ile805Thr)	not specified [RCV005298329]	uncertain significance	10	42817328	42817328	Human		name
598250369	CV3946186	single nucleotide variant	NM_014753.4(BMS1):c.1354G>A (p.Glu452Lys)	not specified [RCV005298330]	uncertain significance	10	42796598	42796598	Human		name
598162532	CV3946189	single nucleotide variant	NM_014753.4(BMS1):c.2481T>G (p.Asp827Glu)	not specified [RCV005307245]	uncertain significance	10	42817395	42817395	Human		name
598162542	CV3946191	single nucleotide variant	NM_014753.4(BMS1):c.1969G>A (p.Asp657Asn)	not specified [RCV005307247]	uncertain significance	10	42797213	42797213	Human		name
598250388	CV3946192	single nucleotide variant	NM_014753.4(BMS1):c.2467A>G (p.Lys823Glu)	not specified [RCV005298333]	uncertain significance	10	42817381	42817381	Human		name
598162547	CV3946193	single nucleotide variant	NM_014753.4(BMS1):c.2418G>T (p.Glu806Asp)	not specified [RCV005307248]	uncertain significance	10	42817332	42817332	Human		name
15129774	CV712362	single nucleotide variant	NM_014753.4(BMS1):c.1654T>C (p.Ser552Pro)	BMS1-related disorder [RCV003935980]\|not provided [RCV000964315]	benign	10	42796898	42796898	Human	1	name , trait , alternate_id
15105370	CV712363	single nucleotide variant	NM_014753.4(BMS1):c.1759G>C (p.Val587Leu)	not provided [RCV000959871]	benign	10	42797003	42797003	Human		name
15122415	CV712364	single nucleotide variant	NM_014753.4(BMS1):c.2302G>A (p.Asp768Asn)	not provided [RCV000963070]	benign	10	42802191	42802191	Human		name
15161192	CV737480	single nucleotide variant	NM_014753.4(BMS1):c.1679G>A (p.Arg560His)	BMS1-related disorder [RCV003958175]\|not provided [RCV000903297]	benign	10	42796923	42796923	Human	1	name , trait , alternate_id
15147128	CV737481	single nucleotide variant	NM_014753.4(BMS1):c.1855A>G (p.Lys619Glu)	not provided [RCV000900452]	likely benign	10	42797099	42797099	Human		name
15171819	CV737482	single nucleotide variant	NM_014753.4(BMS1):c.2396A>G (p.Asn799Ser)	BMS1-related disorder [RCV003958221]\|not provided [RCV000905543]	likely benign	10	42816665	42816665	Human	1	name , trait , alternate_id
15191896	CV737483	single nucleotide variant	NM_014753.4(BMS1):c.2824A>G (p.Ile942Val)	not provided [RCV000910380]	benign	10	42820562	42820562	Human		name
156030613	CV2278732	single nucleotide variant	NM_014753.4(BMS1):c.3578G>A (p.Arg1193Lys)	not specified [RCV004134924]	uncertain significance	10	42830382	42830382	Human		name
156207815	CV2382419	single nucleotide variant	NM_014753.4(BMS1):c.3307C>T (p.Pro1103Ser)	not specified [RCV004230758]	uncertain significance	10	42823635	42823635	Human		name
401751689	CV2672543	single nucleotide variant	NM_014753.4(BMS1):c.3599G>A (p.Arg1200His)	not specified [RCV004287579]	uncertain significance	10	42830403	42830403	Human		name
405265333	CV3199195	single nucleotide variant	NM_014753.4(BMS1):c.3141T>G (p.Phe1047Leu)	BMS1-related disorder [RCV003897405]	benign	10	42823126	42823126	Human		name , trait , alternate_id
405763022	CV3291304	single nucleotide variant	NM_014753.4(BMS1):c.3185G>A (p.Arg1062Gln)	not specified [RCV004433955]	uncertain significance	10	42823170	42823170	Human		name
405763025	CV3291305	single nucleotide variant	NM_014753.4(BMS1):c.3203G>A (p.Arg1068Lys)	not specified [RCV004433956]	uncertain significance	10	42823188	42823188	Human		name
405763034	CV3291306	single nucleotide variant	NM_014753.4(BMS1):c.3248G>C (p.Arg1083Thr)	not specified [RCV004433957]	uncertain significance	10	42823233	42823233	Human		name
405763041	CV3291308	single nucleotide variant	NM_014753.4(BMS1):c.3587C>T (p.Pro1196Leu)	not specified [RCV004433959]	uncertain significance	10	42830391	42830391	Human		name
405763047	CV3291309	single nucleotide variant	NM_014753.4(BMS1):c.3711C>A (p.Phe1237Leu)	not specified [RCV004433960]	uncertain significance	10	42830958	42830958	Human		name
405763060	CV3291311	single nucleotide variant	NM_014753.4(BMS1):c.3788G>C (p.Gly1263Ala)	not specified [RCV004433962]	uncertain significance	10	42831035	42831035	Human		name
407474221	CV3424011	single nucleotide variant	NM_014753.4(BMS1):c.3652C>T (p.His1218Tyr)	not specified [RCV004600559]	uncertain significance	10	42830899	42830899	Human		name
407474225	CV3424012	single nucleotide variant	NM_014753.4(BMS1):c.3580C>T (p.Arg1194Trp)	not specified [RCV004600560]	uncertain significance	10	42830384	42830384	Human		name
407474237	CV3424015	single nucleotide variant	NM_014753.4(BMS1):c.3581G>A (p.Arg1194Gln)	not specified [RCV004600563]	uncertain significance	10	42830385	42830385	Human		name
407474254	CV3424019	single nucleotide variant	NM_014753.4(BMS1):c.3706C>T (p.His1236Tyr)	not specified [RCV004600567]	uncertain significance	10	42830953	42830953	Human		name
597719147	CV3643087	single nucleotide variant	NM_014753.4(BMS1):c.3118A>T (p.Thr1040Ser)	not specified [RCV004887591]	uncertain significance	10	42822170	42822170	Human		name
597719246	CV3643100	single nucleotide variant	NM_014753.4(BMS1):c.3412G>A (p.Ala1138Thr)	not specified [RCV004887604]	uncertain significance	10	42823740	42823740	Human		name
597719303	CV3643107	single nucleotide variant	NM_014753.4(BMS1):c.3178G>A (p.Val1060Met)	not specified [RCV004887611]	likely benign	10	42823163	42823163	Human		name
598162527	CV3946182	single nucleotide variant	NM_014753.4(BMS1):c.3227G>A (p.Arg1076Gln)	not specified [RCV005307244]	uncertain significance	10	42823212	42823212	Human		name
598162537	CV3946190	single nucleotide variant	NM_014753.4(BMS1):c.3468G>T (p.Arg1156Ser)	not specified [RCV005307246]	uncertain significance	10	42830272	42830272	Human		name
598250396	CV3946194	single nucleotide variant	NM_014753.4(BMS1):c.3518C>G (p.Ala1173Gly)	not specified [RCV005298334]	uncertain significance	10	42830322	42830322	Human		name
598162552	CV3946195	single nucleotide variant	NM_014753.4(BMS1):c.3653A>T (p.His1218Leu)	not specified [RCV005307249]	uncertain significance	10	42830900	42830900	Human		name
598162558	CV3946196	single nucleotide variant	NM_014753.4(BMS1):c.3611A>G (p.Glu1204Gly)	not specified [RCV005307250]	uncertain significance	10	42830415	42830415	Human		name
15114457	CV737484	single nucleotide variant	NM_014753.4(BMS1):c.3388C>T (p.Arg1130Trp)	BMS1-related disorder [RCV003958019]\|not provided [RCV000894858]	benign	10	42823716	42823716	Human	1	name , trait , alternate_id

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