Bmper Variant Search Result - Rat Genome Database

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377 records found for search term Bmper

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
11595081	CV302860	single nucleotide variant	NM_133468.5(BMPER):c.-362C>A	Diaphanospondylodysostosis [RCV000366412]	likely benign\|uncertain significance	7	33904923	33904923	Human	1	name
11596970	CV302862	single nucleotide variant	NM_133468.5(BMPER):c.-230G>A	Diaphanospondylodysostosis [RCV000388388]	benign\|likely benign	7	33905055	33905055	Human	1	name
11606032	CV306199	single nucleotide variant	NM_133468.5(BMPER):c.-263G>A	Diaphanospondylodysostosis [RCV000326780]	benign\|likely benign	7	33905022	33905022	Human	1	name
11648024	CV306201	single nucleotide variant	NM_133468.5(BMPER):c.-108G>A	Diaphanospondylodysostosis [RCV000279554]	uncertain significance	7	33905506	33905506	Human	1	name
11656068	CV310938	single nucleotide variant	NM_133468.5(BMPER):c.-192G>A	Diaphanospondylodysostosis [RCV000330184]	uncertain significance	7	33905093	33905093	Human	1	name
11599943	CV311186	single nucleotide variant	NM_133468.5(BMPER):c.-313G>C	Diaphanospondylodysostosis [RCV000269501]	benign\|likely benign	7	33904972	33904972	Human	1	name
11603071	CV311187	single nucleotide variant	NM_133468.5(BMPER):c.-211G>A	Diaphanospondylodysostosis [RCV000296299]	benign\|likely benign	7	33905074	33905074	Human	1	name
11662567	CV311188	single nucleotide variant	NM_133468.5(BMPER):c.-190C>T	Diaphanospondylodysostosis [RCV000387139]	uncertain significance	7	33905095	33905095	Human	1	name
11648298	CV311190	single nucleotide variant	NM_133468.5(BMPER):c.-160G>A	Diaphanospondylodysostosis [RCV000281078]	uncertain significance	7	33905125	33905125	Human	1	name
28874522	CV898028	single nucleotide variant	NM_133468.5(BMPER):c.-293T>C	Diaphanospondylodysostosis [RCV001165401]	uncertain significance	7	33904992	33904992	Human	1	name
28874525	CV898029	single nucleotide variant	NM_133468.5(BMPER):c.-201G>T	Diaphanospondylodysostosis [RCV001165402]	uncertain significance	7	33905084	33905084	Human	1	name
405262395	CV3200223	single nucleotide variant	NM_001365308.1(BMPER):c.-1G>C	BMPER-related disorder [RCV003967286]	likely benign	7	33905613	33905613	Human		name , trait , alternate_id
11660963	CV302866	single nucleotide variant	NM_133468.5(BMPER):c.-141+9T>A	Diaphanospondylodysostosis [RCV000371897]	uncertain significance	7	33905153	33905153	Human	1	name
11607003	CV306200	single nucleotide variant	NM_133468.5(BMPER):c.-141+4A>G	Diaphanospondylodysostosis [RCV000338207]	benign\|likely benign	7	33905148	33905148	Human	1	name
11604729	CV306230	single nucleotide variant	NM_001365308.1(BMPER):c.*11G>A	Diaphanospondylodysostosis [RCV000311989]	benign\|uncertain significance	7	34153284	34153284	Human	1	name
11609520	CV306232	single nucleotide variant	NM_001365308.1(BMPER):c.*52C>T	Diaphanospondylodysostosis [RCV000369070]	uncertain significance	7	34153325	34153325	Human	1	name
11607296	CV310939	single nucleotide variant	NM_001365308.1(BMPER):c.-25C>A	Diaphanospondylodysostosis [RCV000341542]	benign\|likely benign	7	33905589	33905589	Human	1	name
405293014	CV3207113	single nucleotide variant	NM_001365308.1(BMPER):c.*10C>T	BMPER-related disorder [RCV003931523]	likely benign	7	34153283	34153283	Human		name , trait , alternate_id
28870394	CV898043	single nucleotide variant	NM_001365308.1(BMPER):c.*53G>A	Diaphanospondylodysostosis [RCV001163506]	uncertain significance	7	34153326	34153326	Human	1	name
11593862	CV302902	single nucleotide variant	NM_001365308.1(BMPER):c.*278T>C	Diaphanospondylodysostosis [RCV000352951]	benign\|likely benign	7	34153551	34153551	Human	1	name
11596608	CV302907	single nucleotide variant	NM_001365308.1(BMPER):c.*677C>T	Diaphanospondylodysostosis [RCV000383894]	uncertain significance	7	34153950	34153950	Human	1	name
11586962	CV302908	single nucleotide variant	NM_001365308.1(BMPER):c.*678G>A	Diaphanospondylodysostosis [RCV000291886]	uncertain significance	7	34153951	34153951	Human	1	name
11650844	CV302915	single nucleotide variant	NM_001365308.1(BMPER):c.*767C>T	Diaphanospondylodysostosis [RCV000295339]	uncertain significance	7	34154040	34154040	Human	1	name
11598798	CV306235	single nucleotide variant	NM_001365308.1(BMPER):c.*384T>G	Diaphanospondylodysostosis [RCV000260410]	benign\|likely benign	7	34153657	34153657	Human	1	name
11605664	CV306236	single nucleotide variant	NM_001365308.1(BMPER):c.*617G>A	Diaphanospondylodysostosis [RCV000322329]	uncertain significance	7	34153890	34153890	Human	1	name
11610303	CV310970	single nucleotide variant	NM_001365308.1(BMPER):c.*564T>C	Diaphanospondylodysostosis [RCV000379651]	uncertain significance	7	34153837	34153837	Human	1	name
11605959	CV310972	single nucleotide variant	NM_001365308.1(BMPER):c.*678G>T	Diaphanospondylodysostosis [RCV000325709]	benign\|likely benign	7	34153951	34153951	Human	1	name
11605698	CV311199	single nucleotide variant	NM_001365308.1(BMPER):c.*522G>A	Diaphanospondylodysostosis [RCV000322646]	benign\|likely benign	7	34153795	34153795	Human	1	name
11599376	CV311200	single nucleotide variant	NM_001365308.1(BMPER):c.*609G>A	Diaphanospondylodysostosis [RCV000264935]	uncertain significance	7	34153882	34153882	Human	1	name
11610523	CV311214	single nucleotide variant	NM_001365308.1(BMPER):c.*704A>G	Diaphanospondylodysostosis [RCV000382688]	benign	7	34153977	34153977	Human	1	name
28870397	CV898044	single nucleotide variant	NM_001365308.1(BMPER):c.*111C>A	Diaphanospondylodysostosis [RCV001163507]	uncertain significance	7	34153384	34153384	Human	1	name
28870401	CV898045	single nucleotide variant	NM_001365308.1(BMPER):c.*129A>T	Diaphanospondylodysostosis [RCV001163508]	uncertain significance	7	34153402	34153402	Human	1	name
28870403	CV898046	single nucleotide variant	NM_001365308.1(BMPER):c.*134T>C	Diaphanospondylodysostosis [RCV001163509]	uncertain significance	7	34153407	34153407	Human	1	name
28870405	CV898047	single nucleotide variant	NM_001365308.1(BMPER):c.*244C>A	Diaphanospondylodysostosis [RCV001163510]	uncertain significance	7	34153517	34153517	Human	1	name
28871070	CV898048	single nucleotide variant	NM_001365308.1(BMPER):c.*267C>T	Diaphanospondylodysostosis [RCV001163800]	uncertain significance	7	34153540	34153540	Human	1	name
28871072	CV898049	single nucleotide variant	NM_001365308.1(BMPER):c.*490T>C	Diaphanospondylodysostosis [RCV001163801]	uncertain significance	7	34153763	34153763	Human	1	name
28871075	CV898050	single nucleotide variant	NM_001365308.1(BMPER):c.*516G>T	Diaphanospondylodysostosis [RCV001163802]	uncertain significance	7	34153789	34153789	Human	1	name
28906285	CV898051	single nucleotide variant	NM_001365308.1(BMPER):c.*658T>C	Diaphanospondylodysostosis [RCV001158890]	uncertain significance	7	34153931	34153931	Human	1	name
28906287	CV898052	single nucleotide variant	NM_001365308.1(BMPER):c.*699C>T	Diaphanospondylodysostosis [RCV001158891]	uncertain significance	7	34153972	34153972	Human	1	name
28906290	CV898053	single nucleotide variant	NM_001365308.1(BMPER):c.*726C>T	Diaphanospondylodysostosis [RCV001158892]	uncertain significance	7	34153999	34153999	Human	1	name
28908711	CV898054	single nucleotide variant	NM_001365308.1(BMPER):c.*887G>A	Diaphanospondylodysostosis [RCV001160232]	uncertain significance	7	34154160	34154160	Human	1	name
28908714	CV898055	single nucleotide variant	NM_001365308.1(BMPER):c.*975G>A	Diaphanospondylodysostosis [RCV001160233]	likely benign	7	34154248	34154248	Human	1	name
28908716	CV898056	single nucleotide variant	NM_001365308.1(BMPER):c.*980T>C	Diaphanospondylodysostosis [RCV001160234]	uncertain significance	7	34154253	34154253	Human	1	name
127295210	CV1117843	single nucleotide variant	NM_001365308.1(BMPER):c.133+8A>G	not provided [RCV001452438]	likely benign	7	33905754	33905754	Human		name
151865717	CV1477575	single nucleotide variant	NM_001365308.1(BMPER):c.787-3C>T	not provided [RCV001939135]	uncertain significance	7	34055160	34055160	Human		name
156136735	CV1902038	single nucleotide variant	NM_001365308.1(BMPER):c.928-3T>C	not provided [RCV003082042]	uncertain significance	7	34058056	34058056	Human		name
156094358	CV1960240	single nucleotide variant	NM_001365308.1(BMPER):c.494-9G>A	not provided [RCV002570339]	likely benign	7	33974693	33974693	Human		name
156142170	CV1973653	single nucleotide variant	NM_001365308.1(BMPER):c.927+3A>G	not provided [RCV002593867]	uncertain significance	7	34055306	34055306	Human		name
404977238	CV2849710	single nucleotide variant	NM_001365308.1(BMPER):c.927+6T>A	Diaphanospondylodysostosis [RCV003486028]	uncertain significance	7	34055309	34055309	Human	1	name
11588333	CV302868	single nucleotide variant	NM_001365308.1(BMPER):c.133+9G>C	Diaphanospondylodysostosis [RCV000302098]\|not provided [RCV000965748]	benign\|likely benign	7	33905755	33905755	Human	1	name
11664567	CV302917	single nucleotide variant	NM_001365308.1(BMPER):c.*1071A>G	Diaphanospondylodysostosis [RCV000406814]	uncertain significance	7	34154344	34154344	Human	1	name
11598474	CV302927	single nucleotide variant	NM_001365308.1(BMPER):c.*1262C>T	Diaphanospondylodysostosis [RCV000406200]	benign	7	34154535	34154535	Human	1	name
11655878	CV302932	single nucleotide variant	NM_001365308.1(BMPER):c.*1667G>C	Diaphanospondylodysostosis [RCV000328987]	uncertain significance	7	34154940	34154940	Human	1	name
11594758	CV302936	single nucleotide variant	NM_001365308.1(BMPER):c.*1703C>T	Diaphanospondylodysostosis [RCV000362640]	benign\|likely benign	7	34154976	34154976	Human	1	name
11595785	CV302937	single nucleotide variant	NM_001365308.1(BMPER):c.*2218C>T	Diaphanospondylodysostosis [RCV000374105]	benign	7	34155491	34155491	Human	1	name
11659582	CV306242	deletion	NM_001365308.1(BMPER):c.*1484del	Diaphanospondylodysostosis [RCV000359197]	uncertain significance	7	34154757	34154757	Human	1	name
11610995	CV306243	single nucleotide variant	NM_001365308.1(BMPER):c.*2067A>T	Diaphanospondylodysostosis [RCV000388872]	uncertain significance	7	34155340	34155340	Human	1	name
11656119	CV306244	single nucleotide variant	NM_001365308.1(BMPER):c.*2170A>G	Diaphanospondylodysostosis [RCV000331171]	uncertain significance	7	34155443	34155443	Human	1	name
11648480	CV306249	single nucleotide variant	NM_001365308.1(BMPER):c.*2277T>G	Diaphanospondylodysostosis [RCV000281860]	uncertain significance	7	34155550	34155550	Human	1	name
11603283	CV310974	single nucleotide variant	NM_001365308.1(BMPER):c.*1396A>G	Diaphanospondylodysostosis [RCV000298417]	uncertain significance	7	34154669	34154669	Human	1	name
11659673	CV310977	single nucleotide variant	NM_001365308.1(BMPER):c.*1411G>A	Diaphanospondylodysostosis [RCV000360173]	uncertain significance	7	34154684	34154684	Human	1	name
11611597	CV310980	single nucleotide variant	NM_001365308.1(BMPER):c.*1424A>G	Diaphanospondylodysostosis [RCV000397148]	uncertain significance	7	34154697	34154697	Human	1	name
11646334	CV310982	single nucleotide variant	NM_001365308.1(BMPER):c.*1878C>G	Diaphanospondylodysostosis [RCV000269833]	uncertain significance	7	34155151	34155151	Human	1	name
11656262	CV310984	duplication	NM_001365308.1(BMPER):c.*1929dup	Diaphanospondylodysostosis [RCV000331954]	uncertain significance	7	34155198	34155199	Human	1	name
11608239	CV311215	single nucleotide variant	NM_001365308.1(BMPER):c.*1067C>T	Diaphanospondylodysostosis [RCV000352507]	benign	7	34154340	34154340	Human	1	name
11602777	CV311216	single nucleotide variant	NM_001365308.1(BMPER):c.*1163C>T	Diaphanospondylodysostosis [RCV000293939]\|not provided [RCV004707175]	likely benign\|uncertain significance	7	34154436	34154436	Human	1	name
11606913	CV311236	single nucleotide variant	NM_001365308.1(BMPER):c.*1217A>G	Diaphanospondylodysostosis [RCV000337257]	benign	7	34154490	34154490	Human	3	name
11606913	CV311236	single nucleotide variant	NM_001365308.1(BMPER):c.*1217A>G	Diaphanospondylodysostosis [RCV000337257]	benign	7	34154490	34154491	Human	3	name
11600167	CV311241	single nucleotide variant	NM_001365308.1(BMPER):c.*1554A>C	Diaphanospondylodysostosis [RCV000271431]	uncertain significance	7	34154827	34154827	Human	1	name
11650355	CV311242	single nucleotide variant	NM_001365308.1(BMPER):c.*2100C>A	Diaphanospondylodysostosis [RCV000292586]	uncertain significance	7	34155373	34155373	Human	1	name
405211821	CV3173445	single nucleotide variant	NM_001365308.1(BMPER):c.494-8C>T	not provided [RCV003862194]	likely benign	7	33974694	33974694	Human		name
405278760	CV3212659	single nucleotide variant	NM_001365308.1(BMPER):c.133+8A>T	BMPER-related disorder [RCV003954690]	likely benign	7	33905754	33905754	Human		name , trait , alternate_id
597703361	CV3728696	single nucleotide variant	NM_001365308.1(BMPER):c.403-2A>C	Diaphanospondylodysostosis [RCV005047937]	likely pathogenic	7	33970327	33970327	Human	1	name
597864475	CV3742192	single nucleotide variant	NM_001365308.1(BMPER):c.786+7C>T	not provided [RCV005067808]	likely benign	7	34051977	34051977	Human		name
597853639	CV3781663	single nucleotide variant	NM_001365308.1(BMPER):c.493+9C>T	not provided [RCV005128351]	likely benign	7	33970428	33970428	Human		name
616938632	CV4015089	single nucleotide variant	NM_001365308.1(BMPER):c.219+1G>C	HP:0003549 [RCV005412106]	likely pathogenic	7	33906904	33906904	Human		name
28870646	CV898057	single nucleotide variant	NM_001365308.1(BMPER):c.*1403C>T	Diaphanospondylodysostosis [RCV001163606]	uncertain significance	7	34154676	34154676	Human	1	name
28870648	CV898058	single nucleotide variant	NM_001365308.1(BMPER):c.*1596A>G	Diaphanospondylodysostosis [RCV001163607]	uncertain significance	7	34154869	34154869	Human	1	name
28870651	CV898059	single nucleotide variant	NM_001365308.1(BMPER):c.*1605C>T	Diaphanospondylodysostosis [RCV001163608]	likely benign	7	34154878	34154878	Human	1	name
28871353	CV898060	single nucleotide variant	NM_001365308.1(BMPER):c.*1794G>A	Diaphanospondylodysostosis [RCV001163924]	uncertain significance	7	34155067	34155067	Human	1	name
28871355	CV898061	single nucleotide variant	NM_001365308.1(BMPER):c.*1807C>A	Diaphanospondylodysostosis [RCV001163925]	uncertain significance	7	34155080	34155080	Human	1	name
28906478	CV898062	single nucleotide variant	NM_001365308.1(BMPER):c.*2309G>A	Diaphanospondylodysostosis [RCV001158986]	uncertain significance	7	34155582	34155582	Human	1	name
28870158	CV900360	single nucleotide variant	NM_001365308.1(BMPER):c.493+5C>T	Diaphanospondylodysostosis [RCV001163410]\|not provided [RCV001455093]	likely benign\|uncertain significance	7	33970424	33970424	Human	1	name
8590773	CV125482	single nucleotide variant	NM_133468.4(BMPER):c.576+27209C>T	Lung cancer [RCV000106001]	uncertain significance	7	34001993	34001993	Human		name
8590774	CV125483	single nucleotide variant	NM_133468.4(BMPER):c.1877-3456G>T	Lung cancer [RCV000106002]	uncertain significance	7	34149636	34149636	Human		name
150503099	CV1257712	single nucleotide variant	NM_001365308.1(BMPER):c.787-88A>C	not provided [RCV001677400]	benign	7	34055075	34055075	Human		name
151867602	CV1338197	single nucleotide variant	NM_001365308.1(BMPER):c.1745+5G>T	not provided [RCV001884730]	uncertain significance	7	34086097	34086097	Human		name
152171721	CV1521257	single nucleotide variant	NM_001365308.1(BMPER):c.576+13G>A	not provided [RCV002143536]	likely benign	7	33974797	33974797	Human		name
152159445	CV1522642	single nucleotide variant	NM_001365308.1(BMPER):c.319+18C>T	not provided [RCV002140665]	benign	7	33937406	33937406	Human		name
152102691	CV1523940	single nucleotide variant	NM_001365308.1(BMPER):c.220-19C>T	not provided [RCV002133464]	likely benign	7	33937270	33937270	Human		name
152054080	CV1573482	single nucleotide variant	NM_001365308.1(BMPER):c.219+18G>C	not provided [RCV002207866]	benign	7	33906921	33906921	Human		name
152119665	CV1579177	single nucleotide variant	NM_001365308.1(BMPER):c.786+18G>T	not provided [RCV002081378]	benign	7	34051988	34051988	Human		name
152034945	CV1584729	single nucleotide variant	NM_001365308.1(BMPER):c.577-10C>T	not provided [RCV002125180]	likely benign	7	34046296	34046296	Human		name
152141953	CV1586411	single nucleotide variant	NM_001365308.1(BMPER):c.134-16C>T	not provided [RCV002178173]	likely benign	7	33906802	33906802	Human		name
152082884	CV1623638	single nucleotide variant	NM_001365308.1(BMPER):c.577-16T>C	not provided [RCV002149544]	likely benign	7	34046290	34046290	Human		name
152050530	CV1626379	single nucleotide variant	NM_001365308.1(BMPER):c.576+20T>A	not provided [RCV002189358]	likely benign	7	33974804	33974804	Human		name
152159668	CV1649887	single nucleotide variant	NM_001365308.1(BMPER):c.403-13T>A	not provided [RCV002159412]	likely benign	7	33970316	33970316	Human		name
156333013	CV1966650	single nucleotide variant	NM_001365308.1(BMPER):c.133+15G>A	not provided [RCV002600896]	likely benign	7	33905761	33905761	Human		name
156252985	CV1967290	single nucleotide variant	NM_001365308.1(BMPER):c.319+19G>A	not provided [RCV002597531]	likely benign	7	33937407	33937407	Human		name
156222401	CV1981385	single nucleotide variant	NM_001365308.1(BMPER):c.577-15T>C	not provided [RCV002626495]	likely benign	7	34046291	34046291	Human		name
156049207	CV2068280	single nucleotide variant	NM_001365308.1(BMPER):c.1745+9A>C	not provided [RCV002846375]	likely benign	7	34086101	34086101	Human		name
156349123	CV2146884	single nucleotide variant	NM_001365308.1(BMPER):c.493+16A>C	not provided [RCV003030736]	likely benign	7	33970435	33970435	Human		name
156357193	CV2188989	single nucleotide variant	NM_001365308.1(BMPER):c.402+10A>C	not provided [RCV003048768]	likely benign	7	33966571	33966571	Human		name
402503493	CV2879850	single nucleotide variant	NM_001365308.1(BMPER):c.320-10T>G	not provided [RCV003546146]	likely benign	7	33966469	33966469	Human		name
405211022	CV2970616	single nucleotide variant	NM_001365308.1(BMPER):c.677-14C>G	not provided [RCV003679332]	likely benign	7	34051847	34051847	Human		name
402497751	CV2988807	single nucleotide variant	NM_001365308.1(BMPER):c.927+15A>G	not provided [RCV003714354]	likely benign	7	34055318	34055318	Human		name
11603602	CV310968	microsatellite	NM_001365308.1(BMPER):c.*126TA[7]	Diaphanospondylodysostosis [RCV000301483]\|not provided [RCV001672694]	benign	7	34153398	34153399	Human		name
405102619	CV3119406	single nucleotide variant	NM_001365308.1(BMPER):c.494-11C>G	not provided [RCV003811667]	likely benign	7	33974691	33974691	Human		name
405003779	CV3120766	single nucleotide variant	NM_001365308.1(BMPER):c.577-20T>A	not provided [RCV003828369]	likely benign	7	34046286	34046286	Human		name
405111772	CV3137345	single nucleotide variant	NM_001365308.1(BMPER):c.494-16C>T	not provided [RCV003836308]	likely benign	7	33974686	33974686	Human		name
405076306	CV3140785	single nucleotide variant	NM_001365308.1(BMPER):c.493+12A>G	not provided [RCV003833748]	likely benign	7	33970431	33970431	Human		name
405246475	CV3162139	single nucleotide variant	NM_001365308.1(BMPER):c.927+18C>T	not provided [RCV003868658]	likely benign	7	34055321	34055321	Human		name
597902351	CV3741485	single nucleotide variant	NM_001365308.1(BMPER):c.403-14G>A	not provided [RCV005072456]	likely benign	7	33970315	33970315	Human		name
597876370	CV3747854	single nucleotide variant	NM_001365308.1(BMPER):c.134-14C>T	not provided [RCV005069345]	likely benign	7	33906804	33906804	Human		name
597843921	CV3752544	single nucleotide variant	NM_001365308.1(BMPER):c.220-18G>A	not provided [RCV005086950]	likely benign	7	33937271	33937271	Human		name
597843793	CV3753000	single nucleotide variant	NM_001365308.1(BMPER):c.319+17C>T	not provided [RCV005086729]	likely benign	7	33937405	33937405	Human		name
597841434	CV3783329	single nucleotide variant	NM_001365308.1(BMPER):c.576+19G>T	not provided [RCV005116015]	likely benign	7	33974803	33974803	Human		name
597907938	CV3830242	single nucleotide variant	NM_001365308.1(BMPER):c.320-18T>C	not provided [RCV005182812]	likely benign	7	33966461	33966461	Human		name
597930977	CV3862889	single nucleotide variant	NM_001365308.1(BMPER):c.133+11G>A	not provided [RCV005205377]	likely benign	7	33905757	33905757	Human		name
8568555	CV39701	single nucleotide variant	NM_001365308.1(BMPER):c.1078+5G>A	Diaphanospondylodysostosis [RCV000023723]	pathogenic	7	34062052	34062052	Human	1	name
13462512	CV438877	single nucleotide variant	NM_001365308.1(BMPER):c.134-17T>C	not provided [RCV000514283]	conflicting interpretations of pathogenicity\|uncertain significance	7	33906801	33906801	Human		name
28867439	CV900359	single nucleotide variant	NM_001365308.1(BMPER):c.403-13T>C	Diaphanospondylodysostosis [RCV001161886]\|not provided [RCV002071007]	benign\|uncertain significance	7	33970316	33970316	Human	1	name
150339695	CV1167412	single nucleotide variant	NM_001365308.1(BMPER):c.787-235C>G	not provided [RCV001534475]	benign	7	34054928	34054928	Human		name
150330837	CV1171727	single nucleotide variant	NM_001365308.1(BMPER):c.319+150A>G	not provided [RCV001538314]	benign	7	33937538	33937538	Human		name
150449667	CV1215139	single nucleotide variant	NM_001365308.1(BMPER):c.319+101C>T	not provided [RCV001611729]	benign	7	33937489	33937489	Human		name
150450025	CV1215189	single nucleotide variant	NM_001365308.1(BMPER):c.402+189G>A	not provided [RCV001611779]	benign	7	33966750	33966750	Human		name
150516856	CV1227295	duplication	NM_001365308.1(BMPER):c.1033-37dup	not provided [RCV001639395]	benign	7	34061950	34061951	Human		name
150491775	CV1251244	single nucleotide variant	NM_001365308.1(BMPER):c.577-286C>T	not provided [RCV001674912]	benign	7	34046020	34046020	Human		name
150507704	CV1257204	single nucleotide variant	NM_001365308.1(BMPER):c.133+222C>T	not provided [RCV001678503]	benign	7	33905968	33905968	Human		name
150486522	CV1262588	single nucleotide variant	NM_001365308.1(BMPER):c.402+222A>T	not provided [RCV001686985]	benign	7	33966783	33966783	Human		name
150484502	CV1263194	single nucleotide variant	NM_001365308.1(BMPER):c.1032+81G>A	not provided [RCV001686594]	benign	7	34058244	34058244	Human		name
150476689	CV1263682	single nucleotide variant	NM_001365308.1(BMPER):c.576+118G>A	not provided [RCV001685205]	benign	7	33974902	33974902	Human		name
150443800	CV1264644	single nucleotide variant	NM_001365308.1(BMPER):c.220-268C>T	not provided [RCV001679628]	benign	7	33937021	33937021	Human		name
152105898	CV1609557	single nucleotide variant	NM_001365308.1(BMPER):c.1745+19G>T	not provided [RCV002115929]	benign	7	34086111	34086111	Human		name
152150318	CV1625737	single nucleotide variant	NM_001365308.1(BMPER):c.1877-11C>G	not provided [RCV002139416]	likely benign	7	34153081	34153081	Human		name
152065685	CV1641290	single nucleotide variant	NM_001365308.1(BMPER):c.1745+10G>A	not provided [RCV002209303]	likely benign	7	34086102	34086102	Human		name
156344207	CV1981762	single nucleotide variant	NM_001365308.1(BMPER):c.1079-15C>T	not provided [RCV002631591]	likely benign	7	34078842	34078842	Human		name
405182498	CV3127477	single nucleotide variant	NM_001365308.1(BMPER):c.1877-15C>G	not provided [RCV003820165]	likely benign	7	34153077	34153077	Human		name
597835596	CV3739710	single nucleotide variant	NM_001365308.1(BMPER):c.1078+15T>C	not provided [RCV005063930]	likely benign	7	34062062	34062062	Human		name
597872420	CV3747168	single nucleotide variant	NM_001365308.1(BMPER):c.1032+19T>C	not provided [RCV005068852]	likely benign	7	34058182	34058182	Human		name
150448151	CV1216225	single nucleotide variant	NM_001365308.1(BMPER):c.1877-192A>T	not provided [RCV001611523]	benign	7	34152900	34152900	Human		name
150507670	CV1229147	single nucleotide variant	NM_001365308.1(BMPER):c.1745+220G>A	not provided [RCV001636018]	benign	7	34086312	34086312	Human		name
150487257	CV1262709	single nucleotide variant	NM_001365308.1(BMPER):c.1032+116T>G	not provided [RCV001687107]	benign	7	34058279	34058279	Human		name
150468180	CV1277696	single nucleotide variant	NM_001365308.1(BMPER):c.1876+162G>A	not provided [RCV001710991]	benign	7	34143522	34143522	Human		name
150437401	CV1286538	single nucleotide variant	NM_001365308.1(BMPER):c.1746-167C>T	not provided [RCV001724617]	benign	7	34143063	34143063	Human		name
152113680	CV1665445	microsatellite	NM_001365308.1(BMPER):c.402+17TC[3]	not provided [RCV002097187]	likely benign	7	33966578	33966579	Human		name
11644980	CV306233	deletion	NM_001365308.1(BMPER):c.123_128del	Diaphanospondylodysostosis [RCV000262724]	uncertain significance	7	34153393	34153398	Human	1	name
150330893	CV1169244	microsatellite	NM_001365308.1(BMPER):c.928-227AC[12]	not provided [RCV001536198]	benign	7	34057832	34057833	Human		name
150442886	CV1266305	microsatellite	NM_001365308.1(BMPER):c.928-227AC[14]	not provided [RCV001690741]	benign	7	34057831	34057832	Human		name
150490860	CV1280008	microsatellite	NM_001365308.1(BMPER):c.928-227AC[15]	not provided [RCV001716546]	benign	7	34057831	34057832	Human		name
11651961	CV311238	deletion	NM_001365308.1(BMPER):c.1482_1483del	Diaphanospondylodysostosis [RCV000301882]\|not provided [RCV004696024]	uncertain significance	7	34154740	34154741	Human	1	name
405091325	CV3044860	single nucleotide variant	NM_001365308.1(BMPER):c.18C>A (p.Gly6=)	BMPER-related disorder [RCV003929307]\|not provided [RCV003717840]	likely benign	7	33905631	33905631	Human	1	name , trait , alternate_id
152172454	CV1575840	single nucleotide variant	NM_001365308.1(BMPER):c.79C>T (p.Leu27=)	not provided [RCV002183844]	likely benign	7	33905692	33905692	Human		name
152068102	CV1588972	deletion	NM_001365308.1(BMPER):c.403-11_403-10del	BMPER-related disorder [RCV003933326]\|not provided [RCV002209619]	benign\|likely benign	7	33970317	33970318	Human	1	name , trait , alternate_id
156064117	CV2057614	single nucleotide variant	NM_001365308.1(BMPER):c.36G>A (p.Glu12=)	not provided [RCV002797196]	likely benign	7	33905649	33905649	Human		name
405138740	CV2903569	single nucleotide variant	NM_001365308.1(BMPER):c.60G>A (p.Gly20=)	not provided [RCV003560672]	likely benign	7	33905673	33905673	Human		name
405104276	CV3116684	single nucleotide variant	NM_001365308.1(BMPER):c.69C>T (p.Cys23=)	not provided [RCV003812208]	likely benign	7	33905682	33905682	Human		name
151837407	CV1445168	single nucleotide variant	NM_001365308.1(BMPER):c.25G>A (p.Ala9Thr)	not provided [RCV001994340]	uncertain significance	7	33905638	33905638	Human		name
151846649	CV1495264	single nucleotide variant	NM_001365308.1(BMPER):c.16G>C (p.Gly6Arg)	not provided [RCV001978370]	uncertain significance	7	33905629	33905629	Human		name
152081784	CV1526085	single nucleotide variant	NM_001365308.1(BMPER):c.246G>A (p.Glu82=)	not provided [RCV002170632]	benign	7	33937315	33937315	Human		name
152173378	CV1565387	single nucleotide variant	NM_001365308.1(BMPER):c.168C>T (p.Val56=)	not provided [RCV002144083]	benign	7	33906852	33906852	Human		name
156196486	CV2038283	single nucleotide variant	NM_001365308.1(BMPER):c.255C>T (p.Pro85=)	BMPER-related disorder [RCV003963345]\|not provided [RCV002766084]	likely benign	7	33937324	33937324	Human	1	name , trait , alternate_id
8632554	CV87762	single nucleotide variant	NM_133468.4(BMPER):c.880C>T (p.Pro294Ser)	Malignant melanoma [RCV000067854]	not provided	7	34055256	34055256	Human		name
150513677	CV1211362	duplication	NM_001365308.1(BMPER):c.1033-40_1033-37dup	not provided [RCV001598550]	benign	7	34061950	34061951	Human		name
151769969	CV1454438	single nucleotide variant	NM_001365308.1(BMPER):c.46C>A (p.Arg16Ser)	Inborn genetic diseases [RCV003355667]\|not provided [RCV001950062]	uncertain significance	7	33905659	33905659	Human	1	name
152126091	CV1532437	single nucleotide variant	NM_001365308.1(BMPER):c.603A>G (p.Glu201=)	not provided [RCV002118471]	likely benign	7	34046332	34046332	Human		name
152078022	CV1661146	single nucleotide variant	NM_001365308.1(BMPER):c.759C>T (p.Tyr253=)	not provided [RCV002130485]	likely benign	7	34051943	34051943	Human		name
156404850	CV1883566	single nucleotide variant	NM_001365308.1(BMPER):c.673T>C (p.Leu225=)	not provided [RCV003069843]	likely benign	7	34046402	34046402	Human		name
156199948	CV2034673	single nucleotide variant	NM_001365308.1(BMPER):c.513G>A (p.Val171=)	not provided [RCV002766197]	benign	7	33974721	33974721	Human		name
155914582	CV2268423	single nucleotide variant	NM_001365308.1(BMPER):c.89A>G (p.Asn30Ser)	Inborn genetic diseases [RCV002858751]	uncertain significance	7	33905702	33905702	Human	1	name
329396137	CV2463296	single nucleotide variant	NM_001365308.1(BMPER):c.47G>T (p.Arg16Leu)	Inborn genetic diseases [RCV003219421]	uncertain significance	7	33905660	33905660	Human	1	name
401897411	CV2786991	single nucleotide variant	NM_001365308.1(BMPER):c.49C>T (p.Arg17Cys)	Inborn genetic diseases [RCV003375032]	uncertain significance	7	33905662	33905662	Human	1	name
402507407	CV2924261	single nucleotide variant	NM_001365308.1(BMPER):c.561C>A (p.Thr187=)	not provided [RCV003574598]	likely benign	7	33974769	33974769	Human		name
405091938	CV2946995	single nucleotide variant	NM_001365308.1(BMPER):c.396G>A (p.Gln132=)	not provided [RCV003665343]	likely benign	7	33966555	33966555	Human		name
405119336	CV2993825	single nucleotide variant	NM_001365308.1(BMPER):c.831C>T (p.Gly277=)	not provided [RCV003723711]	likely benign	7	34055207	34055207	Human		name
11598355	CV302874	single nucleotide variant	NM_001365308.1(BMPER):c.372G>A (p.Pro124=)	Diaphanospondylodysostosis [RCV000404380]\|not provided [RCV002058666]	likely benign\|uncertain significance	7	33966531	33966531	Human	1	name
11594693	CV302881	single nucleotide variant	NM_001365308.1(BMPER):c.408C>T (p.Gly136=)	Diaphanospondylodysostosis [RCV000362137]\|not provided [RCV001712760]	benign	7	33970334	33970334	Human	1	name
11595430	CV302883	single nucleotide variant	NM_001365308.1(BMPER):c.774T>G (p.Ala258=)	Diaphanospondylodysostosis [RCV000370390]\|not provided [RCV002058667]	benign\|uncertain significance	7	34051958	34051958	Human	1	name
402486710	CV3033993	single nucleotide variant	NM_001365308.1(BMPER):c.333A>G (p.Glu111=)	not provided [RCV003713365]	likely benign	7	33966492	33966492	Human		name
405265858	CV3215704	single nucleotide variant	NM_001365308.1(BMPER):c.864G>A (p.Glu288=)	BMPER-related disorder [RCV003946875]	likely benign	7	34055240	34055240	Human		name , trait , alternate_id
596947577	CV3549136	single nucleotide variant	NM_001365308.1(BMPER):c.747C>T (p.Ser249=)	not provided [RCV004811460]	likely benign	7	34051931	34051931	Human		name
597880431	CV3811672	single nucleotide variant	NM_001365308.1(BMPER):c.789C>T (p.Asp263=)	not provided [RCV005155503]	likely benign	7	34055165	34055165	Human		name
597881591	CV3816065	single nucleotide variant	NM_001365308.1(BMPER):c.816C>T (p.Cys272=)	not provided [RCV005156646]	likely benign	7	34055192	34055192	Human		name
597900666	CV3823060	single nucleotide variant	NM_001365308.1(BMPER):c.966T>C (p.Cys322=)	not provided [RCV005175410]	likely benign	7	34058097	34058097	Human		name
597919220	CV3848240	single nucleotide variant	NM_001365308.1(BMPER):c.336A>G (p.Gly112=)	not provided [RCV005194120]	likely benign	7	33966495	33966495	Human		name
15169748	CV700040	single nucleotide variant	NM_001365308.1(BMPER):c.417A>T (p.Thr139=)	Diaphanospondylodysostosis [RCV001161887]\|not provided [RCV000949519]	benign\|likely benign	7	33970343	33970343	Human	1	name
8632555	CV87763	single nucleotide variant	NM_133468.4(BMPER):c.1042C>T (p.Leu348Phe)	Malignant melanoma [RCV000067855]	not provided	7	34062011	34062011	Human		name
28867435	CV898030	single nucleotide variant	NM_001365308.1(BMPER):c.390A>C (p.Leu130=)	Diaphanospondylodysostosis [RCV001161884]\|not provided [RCV002558542]	likely benign\|uncertain significance	7	33966549	33966549	Human	1	name
151767450	CV1341517	single nucleotide variant	NM_001365308.1(BMPER):c.107T>C (p.Met36Thr)	not provided [RCV001874111]	uncertain significance	7	33905720	33905720	Human		name
151780321	CV1363639	single nucleotide variant	NM_001365308.1(BMPER):c.116C>G (p.Ala39Gly)	Diaphanospondylodysostosis [RCV004720326]\|not provided [RCV001864903]	likely benign\|uncertain significance	7	33905729	33905729	Human	1	name
151822960	CV1415903	single nucleotide variant	NM_001365308.1(BMPER):c.229G>A (p.Val77Met)	Diaphanospondylodysostosis [RCV003146315]\|not provided [RCV001901067]	uncertain significance	7	33937298	33937298	Human	1	name
151745914	CV1450597	single nucleotide variant	NM_001365308.1(BMPER):c.106A>G (p.Met36Val)	Inborn genetic diseases [RCV002555603]\|not provided [RCV001893768]	uncertain significance	7	33905719	33905719	Human	1	name
152168278	CV1524904	single nucleotide variant	NM_001365308.1(BMPER):c.1464T>C (p.His488=)	not provided [RCV002182386]	likely benign	7	34085811	34085811	Human		name
152027350	CV1562767	single nucleotide variant	NM_001365308.1(BMPER):c.1731C>T (p.Tyr577=)	not provided [RCV002104863]	likely benign	7	34086078	34086078	Human		name
152096315	CV1583501	single nucleotide variant	NM_001365308.1(BMPER):c.1734C>T (p.Ala578=)	not provided [RCV002132679]	likely benign	7	34086081	34086081	Human		name
152118496	CV1594924	single nucleotide variant	NM_001365308.1(BMPER):c.1629T>C (p.Pro543=)	not provided [RCV002197727]	benign	7	34085976	34085976	Human		name
152051642	CV1597005	single nucleotide variant	NM_001365308.1(BMPER):c.1188C>T (p.Ser396=)	not provided [RCV002166952]	likely benign	7	34078966	34078966	Human		name
152172278	CV1599059	single nucleotide variant	NM_001365308.1(BMPER):c.1807T>C (p.Leu603=)	not provided [RCV002143724]	likely benign	7	34143291	34143291	Human		name
152162956	CV1606405	single nucleotide variant	NM_001365308.1(BMPER):c.1461G>A (p.Pro487=)	not provided [RCV002181249]	likely benign	7	34085808	34085808	Human		name
152130896	CV1631034	single nucleotide variant	NM_001365308.1(BMPER):c.1935G>A (p.Thr645=)	not provided [RCV002119073]	likely benign	7	34153150	34153150	Human		name
152085140	CV1646624	single nucleotide variant	NM_001365308.1(BMPER):c.1977C>T (p.Cys659=)	not provided [RCV002149824]	likely benign	7	34153192	34153192	Human		name
152053095	CV1651434	single nucleotide variant	NM_001365308.1(BMPER):c.1743C>T (p.Tyr581=)	not provided [RCV002145925]	likely benign	7	34086090	34086090	Human		name
156403818	CV1898019	single nucleotide variant	NM_001365308.1(BMPER):c.1095G>A (p.Thr365=)	not provided [RCV002585287]	likely benign	7	34078873	34078873	Human		name
156206511	CV1913220	single nucleotide variant	NM_001365308.1(BMPER):c.1719G>A (p.Ser573=)	not provided [RCV002595903]	likely benign	7	34086066	34086066	Human		name
156404803	CV1916735	single nucleotide variant	NM_001365308.1(BMPER):c.1905C>T (p.Tyr635=)	not provided [RCV002606184]	likely benign	7	34153120	34153120	Human		name
156374973	CV1917450	single nucleotide variant	NM_001365308.1(BMPER):c.1455T>C (p.Ala485=)	not provided [RCV002603503]	likely benign	7	34085802	34085802	Human		name
156211020	CV1929107	single nucleotide variant	NM_001365308.1(BMPER):c.1095G>C (p.Thr365=)	not provided [RCV002643996]	likely benign	7	34078873	34078873	Human		name
156435194	CV1940637	single nucleotide variant	NM_001365308.1(BMPER):c.1143C>T (p.Asn381=)	not provided [RCV003104746]	likely benign	7	34078921	34078921	Human		name
156376340	CV1960414	single nucleotide variant	NM_001365308.1(BMPER):c.1665G>A (p.Arg555=)	not provided [RCV002582832]	likely benign	7	34086012	34086012	Human		name
156416802	CV1970015	single nucleotide variant	NM_001365308.1(BMPER):c.1275G>A (p.Leu425=)	not provided [RCV002589883]	likely benign	7	34079053	34079053	Human		name
156257085	CV1977379	single nucleotide variant	NM_001365308.1(BMPER):c.1164C>T (p.Tyr388=)	not provided [RCV002597658]	likely benign	7	34078942	34078942	Human		name
156180518	CV1978822	single nucleotide variant	NM_001365308.1(BMPER):c.1695C>T (p.Ser565=)	not provided [RCV002595049]	likely benign	7	34086042	34086042	Human		name
156340021	CV1984789	single nucleotide variant	NM_001365308.1(BMPER):c.1929C>T (p.Ile643=)	not provided [RCV002631383]	likely benign	7	34153144	34153144	Human		name
156086489	CV1989419	single nucleotide variant	NM_001365308.1(BMPER):c.1329G>A (p.Ser443=)	not provided [RCV002639072]	likely benign	7	34079107	34079107	Human		name
156315698	CV2017974	single nucleotide variant	NM_001365308.1(BMPER):c.1125T>C (p.Phe375=)	not provided [RCV002671889]	likely benign	7	34078903	34078903	Human		name
155911475	CV2021655	single nucleotide variant	NM_001365308.1(BMPER):c.197C>T (p.Pro66Leu)	not provided [RCV002726838]	uncertain significance	7	33906881	33906881	Human		name
156017365	CV2035377	single nucleotide variant	NM_001365308.1(BMPER):c.1221C>T (p.Asn407=)	not provided [RCV002780476]	likely benign	7	34078999	34078999	Human		name
155968699	CV2082934	single nucleotide variant	NM_001365308.1(BMPER):c.1335C>T (p.Ile445=)	not provided [RCV002881381]	likely benign	7	34079113	34079113	Human		name
156013808	CV2121255	single nucleotide variant	NM_001365308.1(BMPER):c.1404A>G (p.Lys468=)	not provided [RCV002948423]	conflicting interpretations of pathogenicity\|uncertain significance	7	34079182	34079182	Human		name
155930717	CV2129137	single nucleotide variant	NM_001365308.1(BMPER):c.1344C>T (p.Pro448=)	not provided [RCV002970617]	likely benign	7	34079122	34079122	Human		name
156317975	CV2200219	single nucleotide variant	NM_001365308.1(BMPER):c.232A>G (p.Thr78Ala)	Inborn genetic diseases [RCV002648867]	uncertain significance	7	33937301	33937301	Human	1	name
156169005	CV2315425	single nucleotide variant	NM_001365308.1(BMPER):c.107T>G (p.Met36Arg)	Inborn genetic diseases [RCV002916447]	uncertain significance	7	33905720	33905720	Human	1	name
155930880	CV2361277	single nucleotide variant	NM_001365308.1(BMPER):c.256G>A (p.Val86Met)	Inborn genetic diseases [RCV002684150]	uncertain significance	7	33937325	33937325	Human	1	name
405090746	CV2859400	single nucleotide variant	NM_001365308.1(BMPER):c.1035C>T (p.Gly345=)	not provided [RCV003549883]	likely benign	7	34062004	34062004	Human		name
402467138	CV2910363	single nucleotide variant	NM_001365308.1(BMPER):c.1581G>A (p.Arg527=)	not provided [RCV003569607]	likely benign	7	34085928	34085928	Human		name
405004025	CV3016436	single nucleotide variant	NM_001365308.1(BMPER):c.1689C>G (p.Leu563=)	not provided [RCV003693437]	likely benign	7	34086036	34086036	Human		name
11592607	CV302872	single nucleotide variant	NM_001365308.1(BMPER):c.254C>T (p.Pro85Leu)	Diaphanospondylodysostosis [RCV000340538]\|not provided [RCV001861303]	uncertain significance	7	33937323	33937323	Human	1	name
11592500	CV302890	single nucleotide variant	NM_001365308.1(BMPER):c.1461G>T (p.Pro487=)	Diaphanospondylodysostosis [RCV000339558]\|not provided [RCV001636992]	benign	7	34085808	34085808	Human	1	name
11593337	CV302897	single nucleotide variant	NM_001365308.1(BMPER):c.1797C>T (p.Cys599=)	Diaphanospondylodysostosis [RCV000347780]\|not provided [RCV000882005]	benign\|likely benign\|uncertain significance	7	34143281	34143281	Human	1	name
11598493	CV302901	single nucleotide variant	NM_001365308.1(BMPER):c.1818C>A (p.Thr606=)	Diaphanospondylodysostosis [RCV000406429]\|not provided [RCV002058668]	benign\|likely benign\|uncertain significance	7	34143302	34143302	Human	1	name
405243224	CV3043963	single nucleotide variant	NM_001365308.1(BMPER):c.1443A>G (p.Val481=)	not provided [RCV003719684]	likely benign	7	34085790	34085790	Human		name
405176451	CV3049309	single nucleotide variant	NM_001365308.1(BMPER):c.1305C>T (p.His435=)	not provided [RCV003728311]	likely benign	7	34079083	34079083	Human		name
11609871	CV306202	single nucleotide variant	NM_001365308.1(BMPER):c.1086C>T (p.Gly362=)	Diaphanospondylodysostosis [RCV000374039]\|not provided [RCV000956474]	benign\|likely benign	7	34078864	34078864	Human	1	name
11605312	CV306219	single nucleotide variant	NM_001365308.1(BMPER):c.1248G>A (p.Ser416=)	Diaphanospondylodysostosis [RCV000317601]\|not provided [RCV002523593]	benign\|uncertain significance	7	34079026	34079026	Human	1	name
11610263	CV306221	single nucleotide variant	NM_001365308.1(BMPER):c.1323C>T (p.Asn441=)	Diaphanospondylodysostosis [RCV000379073]\|not provided [RCV003766067]	likely benign\|uncertain significance	7	34079101	34079101	Human	1	name
11608162	CV306226	single nucleotide variant	NM_001365308.1(BMPER):c.1935G>C (p.Thr645=)	Diaphanospondylodysostosis [RCV000351472]\|not provided [RCV001672693]	benign	7	34153150	34153150	Human	1	name
405047087	CV3071755	single nucleotide variant	NM_001365308.1(BMPER):c.1233G>C (p.Arg411=)	not provided [RCV003740333]	likely benign	7	34079011	34079011	Human		name
11664265	CV310948	single nucleotide variant	NM_001365308.1(BMPER):c.115G>T (p.Ala39Ser)	Diaphanospondylodysostosis [RCV000404026]	uncertain significance	7	33905728	33905728	Human	1	name
405039726	CV3141011	single nucleotide variant	NM_001365308.1(BMPER):c.1239C>T (p.Arg413=)	not provided [RCV003831304]	likely benign	7	34079017	34079017	Human		name
405233287	CV3145034	single nucleotide variant	NM_001365308.1(BMPER):c.1134G>C (p.Arg378=)	not provided [RCV003853291]	likely benign	7	34078912	34078912	Human		name
405062534	CV3148358	single nucleotide variant	NM_001365308.1(BMPER):c.1359C>T (p.His453=)	not provided [RCV003850314]	likely benign	7	34079137	34079137	Human		name
405228981	CV3153341	single nucleotide variant	NM_001365308.1(BMPER):c.1365C>T (p.His455=)	not provided [RCV003848405]	likely benign	7	34079143	34079143	Human		name
405762823	CV3291271	single nucleotide variant	NM_001365308.1(BMPER):c.195C>A (p.Asn65Lys)	Inborn genetic diseases [RCV004433922]	uncertain significance	7	33906879	33906879	Human	1	name
407474074	CV3423970	single nucleotide variant	NM_001365308.1(BMPER):c.142G>T (p.Ala48Ser)	Inborn genetic diseases [RCV004600522]	uncertain significance	7	33906826	33906826	Human	1	name
597965127	CV3751095	single nucleotide variant	NM_001365308.1(BMPER):c.1917T>C (p.Gly639=)	not provided [RCV005082657]	likely benign	7	34153132	34153132	Human		name
597943381	CV3757967	single nucleotide variant	NM_001365308.1(BMPER):c.1602C>T (p.Cys534=)	not provided [RCV005077966]	likely benign	7	34085949	34085949	Human		name
597877923	CV3804665	single nucleotide variant	NM_001365308.1(BMPER):c.1411T>C (p.Leu471=)	not provided [RCV005153100]	likely benign	7	34085758	34085758	Human		name
597900048	CV3832927	single nucleotide variant	NM_001365308.1(BMPER):c.1278C>T (p.Gly426=)	not provided [RCV005174840]	likely benign	7	34079056	34079056	Human		name
12896299	CV389799	single nucleotide variant	NM_001365308.1(BMPER):c.220A>G (p.Asn74Asp)	Diaphanospondylodysostosis [RCV001158674]\|not provided [RCV000962209]\|not specified [RCV000455168]	likely benign\|uncertain significance	7	33937289	33937289	Human	1	name
15181968	CV710978	single nucleotide variant	NM_001365308.1(BMPER):c.1974G>A (p.Pro658=)	Diaphanospondylodysostosis [RCV001160135]\|not provided [RCV000974520]	benign\|likely benign\|uncertain significance	7	34153189	34153189	Human	1	name
15185257	CV736115	single nucleotide variant	NM_001365308.1(BMPER):c.1920G>A (p.Pro640=)	BMPER-related disorder [RCV003912973]\|not provided [RCV000908477]	benign\|likely benign	7	34153135	34153135	Human	1	name , trait , alternate_id
28870859	CV898034	single nucleotide variant	NM_001365308.1(BMPER):c.1311C>T (p.Thr437=)	Diaphanospondylodysostosis [RCV001163697]	uncertain significance	7	34079089	34079089	Human	1	name
28908489	CV898039	single nucleotide variant	NM_001365308.1(BMPER):c.1902G>C (p.Val634=)	Diaphanospondylodysostosis [RCV001160132]\|not provided [RCV002070979]	likely benign\|uncertain significance	7	34153117	34153117	Human	1	name
151808614	CV1337249	single nucleotide variant	NM_001365308.1(BMPER):c.722G>A (p.Arg241Gln)	not provided [RCV002028751]	uncertain significance	7	34051906	34051906	Human		name
151800870	CV1369197	single nucleotide variant	NM_001365308.1(BMPER):c.904A>C (p.Lys302Gln)	not provided [RCV002028079]	uncertain significance	7	34055280	34055280	Human		name
151840278	CV1391407	single nucleotide variant	NM_001365308.1(BMPER):c.552C>G (p.Ser184Arg)	not provided [RCV001977604]	uncertain significance	7	33974760	33974760	Human		name
151883009	CV1411684	single nucleotide variant	NM_001365308.1(BMPER):c.911G>A (p.Gly304Asp)	not provided [RCV001962035]	uncertain significance	7	34055287	34055287	Human		name
151870663	CV1436887	single nucleotide variant	NM_001365308.1(BMPER):c.864G>T (p.Glu288Asp)	not provided [RCV002018894]	uncertain significance	7	34055240	34055240	Human		name
151746950	CV1443917	single nucleotide variant	NM_001365308.1(BMPER):c.932G>C (p.Gly311Ala)	not provided [RCV001893890]\|not specified [RCV003479362]	uncertain significance	7	34058063	34058063	Human		name
151728778	CV1482981	single nucleotide variant	NM_001365308.1(BMPER):c.860A>G (p.Glu287Gly)	Inborn genetic diseases [RCV004041161]\|not provided [RCV001892025]	uncertain significance	7	34055236	34055236	Human	1	name
151846758	CV1501843	single nucleotide variant	NM_001365308.1(BMPER):c.340A>G (p.Thr114Ala)	not provided [RCV002016019]	uncertain significance	7	33966499	33966499	Human		name
156376147	CV1930496	single nucleotide variant	NM_001365308.1(BMPER):c.490C>G (p.Pro164Ala)	not provided [RCV002633847]	uncertain significance	7	33970416	33970416	Human		name
156440655	CV1943715	single nucleotide variant	NM_001365308.1(BMPER):c.419A>G (p.Glu140Gly)	not provided [RCV003110691]	uncertain significance	7	33970345	33970345	Human		name
156408073	CV1957717	single nucleotide variant	NM_001365308.1(BMPER):c.995G>A (p.Arg332His)	Inborn genetic diseases [RCV004603203]\|not provided [RCV002586413]	uncertain significance	7	34058126	34058126	Human	1	name
156235368	CV1976840	single nucleotide variant	NM_001365308.1(BMPER):c.371C>T (p.Pro124Leu)	not provided [RCV002596959]	uncertain significance	7	33966530	33966530	Human		name
156318701	CV2071221	single nucleotide variant	NM_001365308.1(BMPER):c.842G>A (p.Gly281Asp)	not provided [RCV002834559]	uncertain significance	7	34055218	34055218	Human		name
156158056	CV2118392	single nucleotide variant	NM_001365308.1(BMPER):c.505G>A (p.Glu169Lys)	Inborn genetic diseases [RCV003170701]\|not provided [RCV002929139]	uncertain significance	7	33974713	33974713	Human	1	name
156121068	CV2128527	single nucleotide variant	NM_001365308.1(BMPER):c.322T>C (p.Cys108Arg)	not provided [RCV002953499]\|not specified [RCV003324056]	uncertain significance	7	33966481	33966481	Human		name
156046639	CV2144180	single nucleotide variant	NM_001365308.1(BMPER):c.674T>A (p.Leu225Ter)	not provided [RCV002999728]	pathogenic	7	34046403	34046403	Human		name
155973286	CV2154603	single nucleotide variant	NM_001365308.1(BMPER):c.815G>A (p.Cys272Tyr)	not provided [RCV003033533]	uncertain significance	7	34055191	34055191	Human		name
156227377	CV2164778	single nucleotide variant	NM_001365308.1(BMPER):c.541C>A (p.Pro181Thr)	not provided [RCV003042955]	uncertain significance	7	33974749	33974749	Human		name
156328486	CV2180745	single nucleotide variant	NM_001365308.1(BMPER):c.646C>T (p.Pro216Ser)	not provided [RCV003047071]	uncertain significance	7	34046375	34046375	Human		name
156053774	CV2269531	single nucleotide variant	NM_001365308.1(BMPER):c.437T>C (p.Val146Ala)	Inborn genetic diseases [RCV002822478]	uncertain significance	7	33970363	33970363	Human	1	name
156091359	CV2302650	single nucleotide variant	NM_001365308.1(BMPER):c.961A>G (p.Ile321Val)	Inborn genetic diseases [RCV002888039]	uncertain significance	7	34058092	34058092	Human	1	name
243064537	CV2411527	single nucleotide variant	NM_001365308.1(BMPER):c.721C>T (p.Arg241Ter)	Diaphanospondylodysostosis [RCV003143102]	likely pathogenic	7	34051905	34051905	Human	1	name
329394615	CV2461447	single nucleotide variant	NM_001365308.1(BMPER):c.685A>C (p.Lys229Gln)	Inborn genetic diseases [RCV003193773]	uncertain significance	7	34051869	34051869	Human	1	name
401776963	CV2721549	single nucleotide variant	NM_001365308.1(BMPER):c.415A>G (p.Thr139Ala)	Inborn genetic diseases [RCV003263402]	uncertain significance	7	33970341	33970341	Human	1	name
404977240	CV2849711	single nucleotide variant	NM_001365308.1(BMPER):c.832T>G (p.Cys278Gly)	Diaphanospondylodysostosis [RCV003486029]\|Inborn genetic diseases [RCV004963672]	uncertain significance	7	34055208	34055208	Human	2	name
402475742	CV2857053	single nucleotide variant	NM_001365308.1(BMPER):c.655C>T (p.Gln219Ter)	not provided [RCV003543341]	pathogenic	7	34046384	34046384	Human		name
11653267	CV302877	single nucleotide variant	NM_001365308.1(BMPER):c.406G>A (p.Gly136Ser)	Diaphanospondylodysostosis [RCV000309799]	uncertain significance	7	33970332	33970332	Human	1	name
11584401	CV302889	single nucleotide variant	NM_001365308.1(BMPER):c.857G>T (p.Cys286Phe)	Diaphanospondylodysostosis [RCV000273713]	uncertain significance	7	34055233	34055233	Human	1	name
11604822	CV310953	single nucleotide variant	NM_001365308.1(BMPER):c.580G>A (p.Gly194Ser)	Diaphanospondylodysostosis [RCV000313364]\|not provided [RCV001636991]	benign\|likely benign	7	34046309	34046309	Human	1	name
11599977	CV311194	single nucleotide variant	NM_001365308.1(BMPER):c.474G>A (p.Met158Ile)	Diaphanospondylodysostosis [RCV000269906]\|not provided [RCV000954106]	benign\|likely benign	7	33970400	33970400	Human	1	name
405762845	CV3291275	single nucleotide variant	NM_001365308.1(BMPER):c.362G>T (p.Trp121Leu)	Inborn genetic diseases [RCV004433926]	uncertain significance	7	33966521	33966521	Human	1	name
597636742	CV3646790	single nucleotide variant	NM_001365308.1(BMPER):c.454C>T (p.Pro152Ser)	Inborn genetic diseases [RCV004969976]	uncertain significance	7	33970380	33970380	Human	1	name
597636751	CV3646792	single nucleotide variant	NM_001365308.1(BMPER):c.329A>G (p.Tyr110Cys)	Inborn genetic diseases [RCV004969978]	uncertain significance	7	33966488	33966488	Human	1	name
597636755	CV3646793	single nucleotide variant	NM_001365308.1(BMPER):c.917A>G (p.Lys306Arg)	Inborn genetic diseases [RCV004969979]	uncertain significance	7	34055293	34055293	Human	1	name
597636757	CV3646794	single nucleotide variant	NM_001365308.1(BMPER):c.353C>T (p.Ser118Phe)	Inborn genetic diseases [RCV004969980]	uncertain significance	7	33966512	33966512	Human	1	name
597903270	CV3825892	single nucleotide variant	NM_001365308.1(BMPER):c.943T>C (p.Ser315Pro)	not provided [RCV005177766]	uncertain significance	7	34058074	34058074	Human		name
597903278	CV3825896	single nucleotide variant	NM_001365308.1(BMPER):c.710G>A (p.Ser237Asn)	not provided [RCV005177770]	uncertain significance	7	34051894	34051894	Human		name
598249403	CV3945919	single nucleotide variant	NM_001365308.1(BMPER):c.370C>T (p.Pro124Ser)	Inborn genetic diseases [RCV005298159]	uncertain significance	7	33966529	33966529	Human	1	name
598249417	CV3945921	single nucleotide variant	NM_001365308.1(BMPER):c.526G>A (p.Gly176Arg)	Inborn genetic diseases [RCV005298161]	uncertain significance	7	33974734	33974734	Human	1	name
8602311	CV39699	single nucleotide variant	NM_001365308.1(BMPER):c.925C>T (p.Gln309Ter)	Diaphanospondylodysostosis [RCV000023721]\|not provided [RCV003313030]	pathogenic	7	34055301	34055301	Human	1	name
13790965	CV550165	single nucleotide variant	NM_001365308.1(BMPER):c.410T>A (p.Val137Asp)	Diaphanospondylodysostosis [RCV000677141]	pathogenic\|likely pathogenic	7	33970336	33970336	Human	1	name
14693336	CV620262	single nucleotide variant	NM_001365308.1(BMPER):c.816C>A (p.Cys272Ter)	BMPER-related disorder [RCV004758051]\|not provided [RCV003768433]	pathogenic\|likely pathogenic\|uncertain significance	7	34055192	34055192	Human	1	name , trait , alternate_id
8632553	CV87761	single nucleotide variant	NM_001365308.1(BMPER):c.760G>A (p.Asp254Asn)	not provided [RCV002614188]	uncertain significance\|not provided	7	34051944	34051944	Human		name
28867437	CV898031	single nucleotide variant	NM_001365308.1(BMPER):c.391C>T (p.Arg131Cys)	Diaphanospondylodysostosis [RCV001161885]\|Inborn genetic diseases [RCV005306295]\|not provided [RCV002558543]	uncertain significance	7	33966550	33966550	Human	2	name
28870160	CV898032	single nucleotide variant	NM_001365308.1(BMPER):c.664C>T (p.Pro222Ser)	Diaphanospondylodysostosis [RCV001163411]\|not provided [RCV002067986]	likely benign\|uncertain significance	7	34046393	34046393	Human	1	name
28870163	CV898033	single nucleotide variant	NM_001365308.1(BMPER):c.758A>G (p.Tyr253Cys)	Diaphanospondylodysostosis [RCV001163412]	uncertain significance	7	34051942	34051942	Human	1	name
40904067	CV976301	single nucleotide variant	NM_001365308.1(BMPER):c.416C>G (p.Thr139Arg)	not provided [RCV001269911]	likely pathogenic	7	33970342	33970342	Human		name
40904071	CV976303	single nucleotide variant	NM_001365308.1(BMPER):c.942G>A (p.Trp314Ter)	not provided [RCV001269912]	pathogenic	7	34058073	34058073	Human		name
151758163	CV1340491	single nucleotide variant	NM_001365308.1(BMPER):c.1259C>A (p.Ser420Ter)	not provided [RCV001913671]	pathogenic	7	34079037	34079037	Human		name
151801540	CV1354213	single nucleotide variant	NM_001365308.1(BMPER):c.1792T>C (p.Tyr598His)	not provided [RCV001867170]\|not specified [RCV003323937]	uncertain significance	7	34143276	34143276	Human		name
151822207	CV1355182	single nucleotide variant	NM_001365308.1(BMPER):c.1798G>A (p.Glu600Lys)	not provided [RCV001934254]	uncertain significance	7	34143282	34143282	Human		name
151760512	CV1358003	single nucleotide variant	NM_001365308.1(BMPER):c.1592A>G (p.Asn531Ser)	not provided [RCV001928454]	uncertain significance	7	34085939	34085939	Human		name
151784818	CV1374589	single nucleotide variant	NM_001365308.1(BMPER):c.1774C>T (p.Pro592Ser)	not provided [RCV001875709]	uncertain significance	7	34143258	34143258	Human		name
151829696	CV1384289	single nucleotide variant	NM_001365308.1(BMPER):c.1673G>A (p.Arg558Gln)	Inborn genetic diseases [RCV003247211]\|not provided [RCV001955558]	uncertain significance	7	34086020	34086020	Human	1	name
151818555	CV1390591	single nucleotide variant	NM_001365308.1(BMPER):c.1371C>G (p.Asp457Glu)	not provided [RCV001954527]	uncertain significance	7	34079149	34079149	Human		name
151779161	CV1392523	single nucleotide variant	NM_001365308.1(BMPER):c.1757C>T (p.Thr586Ile)	not provided [RCV001897077]	uncertain significance	7	34143241	34143241	Human		name
151870594	CV1417138	single nucleotide variant	NM_001365308.1(BMPER):c.1289T>G (p.Val430Gly)	not provided [RCV001998281]	uncertain significance	7	34079067	34079067	Human		name
151774405	CV1427946	single nucleotide variant	NM_001365308.1(BMPER):c.1513C>T (p.Arg505Cys)	not provided [RCV001915292]	uncertain significance	7	34085860	34085860	Human		name
151777289	CV1454092	single nucleotide variant	NM_001365308.1(BMPER):c.1438T>C (p.Phe480Leu)	Inborn genetic diseases [RCV003382704]\|not provided [RCV001896910]	uncertain significance	7	34085785	34085785	Human	1	name
151713311	CV1464065	single nucleotide variant	NM_001365308.1(BMPER):c.1129G>C (p.Gly377Arg)	Inborn genetic diseases [RCV004041822]\|not provided [RCV001964728]	uncertain significance	7	34078907	34078907	Human	1	name
151790805	CV1509157	single nucleotide variant	NM_001365308.1(BMPER):c.1306C>T (p.Leu436Phe)	Inborn genetic diseases [RCV002545823]\|not provided [RCV001876495]	uncertain significance	7	34079084	34079084	Human	1	name
151847086	CV1514867	single nucleotide variant	NM_001365308.1(BMPER):c.1054G>A (p.Gly352Arg)	not provided [RCV001978428]	uncertain significance	7	34062023	34062023	Human		name
152052340	CV1659044	single nucleotide variant	NM_001365308.1(BMPER):c.1732G>A (p.Ala578Thr)	not provided [RCV002189569]	likely benign	7	34086079	34086079	Human		name
152123855	CV1660414	single nucleotide variant	NM_001365308.1(BMPER):c.1451T>C (p.Met484Thr)	not provided [RCV002154606]	likely benign	7	34085798	34085798	Human		name
152978612	CV1671805	single nucleotide variant	NM_001365308.1(BMPER):c.1124T>C (p.Phe375Ser)	Diaphanospondylodysostosis [RCV002227904]\|Inborn genetic diseases [RCV004612158]	uncertain significance	7	34078902	34078902	Human	2	name
155265153	CV1704627	single nucleotide variant	NM_001365308.1(BMPER):c.1202T>C (p.Phe401Ser)	Inborn genetic diseases [RCV003101638]\|not provided [RCV002284843]	uncertain significance	7	34078980	34078980	Human	1	name
155679944	CV1776601	single nucleotide variant	NM_001365308.1(BMPER):c.1366A>G (p.Ile456Val)	not provided [RCV002298163]	uncertain significance	7	34079144	34079144	Human		name
156368483	CV1904940	single nucleotide variant	NM_001365308.1(BMPER):c.1421C>A (p.Ser474Tyr)	not provided [RCV002582244]	uncertain significance	7	34085768	34085768	Human		name
156192443	CV1916022	single nucleotide variant	NM_001365308.1(BMPER):c.1900G>C (p.Val634Leu)	Inborn genetic diseases [RCV002595421]\|not provided [RCV002588559]	uncertain significance	7	34153115	34153115	Human	1	name
156369227	CV1919980	single nucleotide variant	NM_001365308.1(BMPER):c.1744C>T (p.Arg582Trp)	Diaphanospondylodysostosis [RCV003485817]\|not provided [RCV002603045]	uncertain significance	7	34086091	34086091	Human	1	name
156140951	CV1921843	single nucleotide variant	NM_001365308.1(BMPER):c.1973C>T (p.Pro658Leu)	Inborn genetic diseases [RCV004070481]\|not provided [RCV002623659]	uncertain significance	7	34153188	34153188	Human	1	name
156445962	CV1951042	single nucleotide variant	NM_001365308.1(BMPER):c.1961C>T (p.Pro654Leu)	not provided [RCV003116925]	uncertain significance	7	34153176	34153176	Human		name
156242904	CV1973289	single nucleotide variant	NM_001365308.1(BMPER):c.1822G>A (p.Ala608Thr)	not provided [RCV002597206]	uncertain significance	7	34143306	34143306	Human		name
156119374	CV2004072	single nucleotide variant	NM_001365308.1(BMPER):c.1229G>A (p.Arg410His)	not provided [RCV002662794]	uncertain significance	7	34079007	34079007	Human		name
156011010	CV2016590	single nucleotide variant	NM_001365308.1(BMPER):c.1621C>T (p.Pro541Ser)	not provided [RCV002734895]	uncertain significance	7	34085968	34085968	Human		name
156017018	CV2120613	single nucleotide variant	NM_001365308.1(BMPER):c.2027G>A (p.Cys676Tyr)	not provided [RCV002975957]	uncertain significance	7	34153242	34153242	Human		name
156033718	CV2122948	single nucleotide variant	NM_001365308.1(BMPER):c.1686G>T (p.Lys562Asn)	Inborn genetic diseases [RCV004068280]\|not provided [RCV002949341]	uncertain significance	7	34086033	34086033	Human	1	name
155965148	CV2142490	single nucleotide variant	NM_001365308.1(BMPER):c.1232G>A (p.Arg411Gln)	not provided [RCV002995347]	uncertain significance	7	34079010	34079010	Human		name
156187171	CV2292447	single nucleotide variant	NM_001365308.1(BMPER):c.1819C>T (p.Arg607Trp)	Inborn genetic diseases [RCV002874021]	uncertain significance	7	34143303	34143303	Human	1	name
156069250	CV2292726	single nucleotide variant	NM_001365308.1(BMPER):c.1294C>G (p.Leu432Val)	Inborn genetic diseases [RCV002886791]	uncertain significance	7	34079072	34079072	Human	1	name
156193188	CV2350486	single nucleotide variant	NM_001365308.1(BMPER):c.1351G>A (p.Ala451Thr)	Inborn genetic diseases [RCV002984738]	uncertain significance	7	34079129	34079129	Human	1	name
401745172	CV2681207	single nucleotide variant	NM_001365308.1(BMPER):c.1435A>G (p.Ser479Gly)	Inborn genetic diseases [RCV003252313]	uncertain significance	7	34085782	34085782	Human	1	name
401876005	CV2777620	single nucleotide variant	NM_001365308.1(BMPER):c.1049G>C (p.Arg350Thr)	Inborn genetic diseases [RCV003347898]	uncertain significance	7	34062018	34062018	Human	1	name
404978010	CV2851970	single nucleotide variant	NM_001365308.1(BMPER):c.1166T>G (p.Val389Gly)	Diaphanospondylodysostosis [RCV003486401]	uncertain significance	7	34078944	34078944	Human	1	name
405008737	CV3010294	single nucleotide variant	NM_001365308.1(BMPER):c.1919C>T (p.Pro640Leu)	not provided [RCV003693676]	uncertain significance	7	34153134	34153134	Human		name
11598796	CV306210	single nucleotide variant	NM_001365308.1(BMPER):c.1207G>A (p.Val403Met)	Diaphanospondylodysostosis [RCV000260010]\|not provided [RCV002519508]	uncertain significance	7	34078985	34078985	Human	1	name
11602364	CV306224	single nucleotide variant	NM_001365308.1(BMPER):c.1724T>C (p.Val575Ala)	Diaphanospondylodysostosis [RCV000290436]\|not provided [RCV002523594]	uncertain significance	7	34086071	34086071	Human	1	name
11604320	CV306225	single nucleotide variant	NM_001365308.1(BMPER):c.1927A>T (p.Ile643Phe)	Diaphanospondylodysostosis [RCV000308375]\|not provided [RCV002524530]	uncertain significance	7	34153142	34153142	Human	1	name
11656113	CV310956	single nucleotide variant	NM_001365308.1(BMPER):c.1003C>A (p.Gln335Lys)	Diaphanospondylodysostosis [RCV000331131]\|not provided [RCV001861304]	uncertain significance	7	34058134	34058134	Human	1	name
11602015	CV311195	single nucleotide variant	NM_001365308.1(BMPER):c.1460C>T (p.Pro487Leu)	Diaphanospondylodysostosis [RCV000287043]\|not provided [RCV001861305]	uncertain significance	7	34085807	34085807	Human	1	name
11610136	CV311197	single nucleotide variant	NM_001365308.1(BMPER):c.1663C>T (p.Arg555Trp)	BMPER-related disorder [RCV003912542]\|Diaphanospondylodysostosis [RCV000377778]\|not provided [RCV000892440]	benign\|likely benign\|uncertain significance	7	34086010	34086010	Human	3	name , trait , alternate_id
11610136	CV311197	single nucleotide variant	NM_001365308.1(BMPER):c.1663C>T (p.Arg555Trp)	BMPER-related disorder [RCV003912542]\|Diaphanospondylodysostosis [RCV000377778]\|not provided [RCV000892440]	benign\|likely benign\|uncertain significance	7	34086010	34086011	Human	3	name , trait , alternate_id
11611104	CV311198	single nucleotide variant	NM_001365308.1(BMPER):c.1978G>A (p.Val660Ile)	Diaphanospondylodysostosis [RCV000390626]\|Inborn genetic diseases [RCV002523595]\|not provided [RCV001861306]	likely benign\|uncertain significance	7	34153193	34153193	Human	2	name
405762812	CV3291269	single nucleotide variant	NM_001365308.1(BMPER):c.1603A>G (p.Asn535Asp)	Inborn genetic diseases [RCV004433920]	uncertain significance	7	34085950	34085950	Human	1	name
405762817	CV3291270	single nucleotide variant	NM_001365308.1(BMPER):c.1880C>T (p.Thr627Ile)	Inborn genetic diseases [RCV004433921]	uncertain significance	7	34153095	34153095	Human	1	name
405762827	CV3291272	single nucleotide variant	NM_001365308.1(BMPER):c.1966A>G (p.Asn656Asp)	Inborn genetic diseases [RCV004433923]	uncertain significance	7	34153181	34153181	Human	1	name
405762833	CV3291273	single nucleotide variant	NM_001365308.1(BMPER):c.1979T>C (p.Val660Ala)	Inborn genetic diseases [RCV004433924]	uncertain significance	7	34153194	34153194	Human	1	name
405762839	CV3291274	single nucleotide variant	NM_001365308.1(BMPER):c.2017A>G (p.Lys673Glu)	Inborn genetic diseases [RCV004433925]	uncertain significance	7	34153232	34153232	Human	1	name
407474077	CV3423971	single nucleotide variant	NM_001365308.1(BMPER):c.1226C>T (p.Ala409Val)	Inborn genetic diseases [RCV004600523]	uncertain significance	7	34079004	34079004	Human	1	name
407474080	CV3423972	single nucleotide variant	NM_001365308.1(BMPER):c.1033G>A (p.Gly345Ser)	Inborn genetic diseases [RCV004600524]	uncertain significance	7	34062002	34062002	Human	1	name
597636747	CV3646791	single nucleotide variant	NM_001365308.1(BMPER):c.1745G>A (p.Arg582Gln)	Inborn genetic diseases [RCV004969977]	uncertain significance	7	34086092	34086092	Human	1	name
597636761	CV3646795	single nucleotide variant	NM_001365308.1(BMPER):c.2020G>A (p.Gly674Arg)	Inborn genetic diseases [RCV004969981]	uncertain significance	7	34153235	34153235	Human	1	name
597636763	CV3646796	single nucleotide variant	NM_001365308.1(BMPER):c.1328C>T (p.Ser443Leu)	Inborn genetic diseases [RCV004969982]	uncertain significance	7	34079106	34079106	Human	1	name
597636767	CV3646798	single nucleotide variant	NM_001365308.1(BMPER):c.1046A>G (p.Asn349Ser)	Inborn genetic diseases [RCV004969983]	uncertain significance	7	34062015	34062015	Human	1	name
12842485	CV369441	single nucleotide variant	NM_001365308.1(BMPER):c.1087G>A (p.Val363Ile)	Diaphanospondylodysostosis [RCV001163696]\|not provided [RCV000434501]	benign\|uncertain significance	7	34078865	34078865	Human	1	name
597703782	CV3728697	single nucleotide variant	NM_001365308.1(BMPER):c.1075G>T (p.Glu359Ter)	Diaphanospondylodysostosis [RCV005033777]	likely pathogenic	7	34062044	34062044	Human	1	name
598249395	CV3945916	single nucleotide variant	NM_001365308.1(BMPER):c.1895G>C (p.Gly632Ala)	Inborn genetic diseases [RCV005298157]	uncertain significance	7	34153110	34153110	Human	1	name
598249400	CV3945917	single nucleotide variant	NM_001365308.1(BMPER):c.2041C>G (p.Leu681Val)	Inborn genetic diseases [RCV005298158]	uncertain significance	7	34153256	34153256	Human	1	name
598249410	CV3945920	single nucleotide variant	NM_001365308.1(BMPER):c.1652A>T (p.Lys551Met)	Inborn genetic diseases [RCV005298160]	uncertain significance	7	34085999	34085999	Human	1	name
8602312	CV39702	single nucleotide variant	NM_001365308.1(BMPER):c.1109C>T (p.Pro370Leu)	Diaphanospondylodysostosis [RCV000023724]	pathogenic	7	34078887	34078887	Human	1	name
8602313	CV39703	single nucleotide variant	NM_001365308.1(BMPER):c.1638T>A (p.Cys546Ter)	Diaphanospondylodysostosis [RCV000023725]	pathogenic	7	34085985	34085985	Human	1	name
13827584	CV578458	single nucleotide variant	NM_001365308.1(BMPER):c.1115A>G (p.Tyr372Cys)	Diaphanospondylodysostosis [RCV000714709]	uncertain significance	7	34078893	34078893	Human	1	name
28870861	CV898035	single nucleotide variant	NM_001365308.1(BMPER):c.1457C>T (p.Ala486Val)	Diaphanospondylodysostosis [RCV001163698]\|not provided [RCV002558574]	uncertain significance	7	34085804	34085804	Human	1	name
28906100	CV898036	single nucleotide variant	NM_001365308.1(BMPER):c.1471G>A (p.Gly491Ser)	Diaphanospondylodysostosis [RCV001158780]	uncertain significance	7	34085818	34085818	Human	1	name
28906102	CV898037	single nucleotide variant	NM_001365308.1(BMPER):c.1481G>C (p.Cys494Ser)	Diaphanospondylodysostosis [RCV001158781]	uncertain significance	7	34085828	34085828	Human	1	name
28906105	CV898038	single nucleotide variant	NM_001365308.1(BMPER):c.1514G>A (p.Arg505His)	Diaphanospondylodysostosis [RCV001158782]\|Inborn genetic diseases [RCV004032837]\|not provided [RCV002032470]	uncertain significance	7	34085861	34085861	Human	2	name
28908492	CV898040	single nucleotide variant	NM_001365308.1(BMPER):c.1906G>A (p.Asp636Asn)	Diaphanospondylodysostosis [RCV001160133]\|not provided [RCV001859037]	uncertain significance	7	34153121	34153121	Human	1	name
28908495	CV898041	single nucleotide variant	NM_001365308.1(BMPER):c.1963T>C (p.Cys655Arg)	Diaphanospondylodysostosis [RCV001160134]	uncertain significance	7	34153178	34153178	Human	1	name
28870392	CV898042	single nucleotide variant	NM_001365308.1(BMPER):c.2054G>A (p.Arg685Gln)	Diaphanospondylodysostosis [RCV001163505]\|not provided [RCV002559568]	uncertain significance	7	34153269	34153269	Human	1	name
40890094	CV975221	single nucleotide variant	NM_001365308.1(BMPER):c.1577G>A (p.Trp526Ter)	not provided [RCV001268683]	pathogenic	7	34085924	34085924	Human		name
598126144	CV3881792	duplication	NM_001365308.1(BMPER):c.531_535dup (p.Phe179fs)	Diaphanospondylodysostosis [RCV005233343]	likely pathogenic	7	33974738	33974739	Human	1	name
405872322	CV3398374	deletion	NM_001365308.1(BMPER):c.1648_1649del (p.Val550fs)	not provided [RCV004575375]	pathogenic	7	34085995	34085996	Human		name
40903792	CV976302	microsatellite	NM_001365308.1(BMPER):c.501_502del (p.Val167_Phe168insTer)	not provided [RCV001269595]	pathogenic	7	33974704	33974705	Human		name
8568554	CV39700	indel	NM_001365308.1(BMPER):c.26_35delinsAGACCAGAGCGGCG (p.Ala9fs)	Diaphanospondylodysostosis [RCV000023722]	pathogenic	7	33905639	33905648	Human		name

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