Mycbp Variant Search Result - Rat Genome Database

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695 records found for search term Mycbp

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
597645576	CV3554776	single nucleotide variant	NM_012333.5(MYCBP):c.26C>T (p.Ser9Leu)	not specified [RCV004826149]	uncertain significance	1	38873080	38873080	Human		name
401738388	CV2711847	single nucleotide variant	NM_012333.5(MYCBP):c.196C>T (p.Arg66Cys)	not specified [RCV004309480]	uncertain significance	1	38866951	38866951	Human		name
401764288	CV2725514	single nucleotide variant	NM_012333.5(MYCBP):c.286C>T (p.Pro96Ser)	not specified [RCV004320134]	uncertain significance	1	38864696	38864696	Human		name
598188417	CV3983151	single nucleotide variant	NM_012333.5(MYCBP):c.170C>T (p.Pro57Leu)	not specified [RCV005373714]	uncertain significance	1	38866977	38866977	Human		name
329394272	CV2460688	single nucleotide variant	NM_032133.6(MYCBPAP):c.-93C>T	not specified [RCV004271035]	uncertain significance	17	50508582	50508582	Human		name
405755134	CV3312987	single nucleotide variant	NM_032133.6(MYCBPAP):c.-18A>G	not specified [RCV004454382]	uncertain significance	17	50508657	50508657	Human		name
405697678	CV3313156	single nucleotide variant	NM_032133.6(MYCBPAP):c.-65C>T	not specified [RCV004446532]	uncertain significance	17	50508610	50508610	Human		name
408380745	CV3523645	single nucleotide variant	NM_015057.5(MYCBP2):c.594+1G>C	not provided [RCV004766043]	uncertain significance	13	77288160	77288160	Human		name
155715478	CV1780397	single nucleotide variant	NM_015057.5(MYCBP2):c.7660-2A>G	not provided [RCV002306001]	uncertain significance	13	77126544	77126544	Human		name
329951910	CV2668489	single nucleotide variant	NM_015057.5(MYCBP2):c.2630-2A>C	not provided [RCV003230142]	uncertain significance	13	77233265	77233265	Human		name
401901935	CV2813941	single nucleotide variant	NM_015057.5(MYCBP2):c.9955-6C>T	not provided [RCV003393351]	likely benign	13	77095608	77095608	Human		name
401901937	CV2813943	single nucleotide variant	NM_015057.5(MYCBP2):c.8018-5T>C	not provided [RCV003393353]	likely benign	13	77121500	77121500	Human		name
405259826	CV3186437	microsatellite	NM_015057.5(MYCBP2):c.-27GCG[4]	not provided [RCV003884196]	likely benign	13	77326779	77326790	Human		name
405292604	CV3192525	deletion	NM_015057.5(MYCBP2):c.2940-6del	MYCBP2-related disorder [RCV003929779]	benign	13	77217963	77217963	Human		name , trait , alternate_id
405293511	CV3192692	single nucleotide variant	NM_015057.5(MYCBP2):c.2940-8T>G	MYCBP2-related disorder [RCV003931899]	benign	13	77217965	77217965	Human		name , trait , alternate_id
405292333	CV3199987	single nucleotide variant	NM_015057.5(MYCBP2):c.2940-7A>T	MYCBP2-related disorder [RCV003964459]	likely benign	13	77217964	77217964	Human		name , trait , alternate_id
405262304	CV3200080	single nucleotide variant	NM_015057.5(MYCBP2):c.945+10A>G	MYCBP2-related disorder [RCV003967254]	likely benign	13	77273462	77273462	Human		name , trait , alternate_id
405293983	CV3203316	microsatellite	NM_015057.5(MYCBP2):c.-27GCG[9]	MYCBP2-related disorder [RCV003933873]	likely benign	13	77326778	77326779	Human		name , trait , alternate_id
405275339	CV3204784	duplication	NM_015057.5(MYCBP2):c.5795-3dup	MYCBP2-related disorder [RCV003952161]	likely benign	13	77169716	77169717	Human		name , trait , alternate_id
405283704	CV3213350	single nucleotide variant	NM_015057.5(MYCBP2):c.9955-5G>T	MYCBP2-related disorder [RCV003921940]	likely benign	13	77095607	77095607	Human		name , trait , alternate_id
405293797	CV3214492	single nucleotide variant	NM_015057.5(MYCBP2):c.4942-4G>A	MYCBP2-related disorder [RCV003932172]	likely benign	13	77180322	77180322	Human		name , trait , alternate_id
405266997	CV3218388	single nucleotide variant	NM_015057.5(MYCBP2):c.4942-5C>T	MYCBP2-related disorder [RCV003947251]	likely benign	13	77180323	77180323	Human		name , trait , alternate_id
405267074	CV3218539	single nucleotide variant	NM_015057.5(MYCBP2):c.2381+9C>T	MYCBP2-related disorder [RCV003947275]	likely benign	13	77251142	77251142	Human		name , trait , alternate_id
405286091	CV3218704	microsatellite	NM_015057.5(MYCBP2):c.-27GCG[5]	MYCBP2-related disorder [RCV003959428]	likely benign	13	77326779	77326787	Human		name , trait , alternate_id
405271003	CV3218827	single nucleotide variant	NM_015057.5(MYCBP2):c.6459+7A>C	MYCBP2-related disorder [RCV003971585]	benign	13	77165266	77165266	Human		name , trait , alternate_id
408377430	CV3501579	single nucleotide variant	NM_015057.5(MYCBP2):c.7188-2A>G	not provided [RCV004727637]	likely pathogenic	13	77144562	77144562	Human		name
408368748	CV3502649	single nucleotide variant	NM_015057.5(MYCBP2):c.4942-2A>C	not provided [RCV004723770]	likely pathogenic	13	77180320	77180320	Human		name
597648574	CV3551735	single nucleotide variant	NM_015057.5(MYCBP2):c.9784+3A>G	not provided [RCV004820448]	uncertain significance	13	77097367	77097367	Human		name
15191961	CV744784	single nucleotide variant	NM_015057.5(MYCBP2):c.1189-4G>T	not provided [RCV000910399]	benign	13	77270067	77270067	Human		name
15164694	CV778034	deletion	NM_015057.5(MYCBP2):c.5341-3del	not provided [RCV000948408]	benign	13	77176631	77176631	Human		name
15164697	CV778171	deletion	NM_015057.5(MYCBP2):c.2940-8del	not provided [RCV000948409]	benign	13	77217965	77217965	Human		name
15110652	CV779611	single nucleotide variant	NM_015057.5(MYCBP2):c.2940-7A>G	MYCBP2-related disorder [RCV003916037]\|not provided [RCV000960946]	benign	13	77217964	77217964	Human		name , trait , alternate_id
15135264	CV779829	single nucleotide variant	NM_015057.5(MYCBP2):c.6115-8G>A	not provided [RCV000965259]	benign	13	77166562	77166562	Human		name
38460077	CV920327	single nucleotide variant	NM_015057.5(MYCBP2):c.5895+2T>G	See cases [RCV001196342]	uncertain significance	13	77169612	77169612	Human		name
150512723	CV1228821	deletion	NM_015057.5(MYCBP2):c.1260+56del	not provided [RCV001637662]	benign	13	77269936	77269936	Human		name
405255675	CV3185637	microsatellite	NM_015057.5(MYCBP2):c.-27GCG[10]	MYCBP2-related disorder [RCV003939272]\|not provided [RCV003886201]	benign\|likely benign	13	77326778	77326779	Human		name , trait , alternate_id
405286636	CV3192219	single nucleotide variant	NM_015057.5(MYCBP2):c.10367+4T>C	MYCBP2-related disorder [RCV003924122]	benign	13	77093161	77093161	Human		name , trait , alternate_id
405275238	CV3204663	single nucleotide variant	NM_015057.5(MYCBP2):c.10368-7T>C	MYCBP2-related disorder [RCV003952063]	likely benign	13	77090270	77090270	Human		name , trait , alternate_id
405290983	CV3208544	single nucleotide variant	NM_015057.5(MYCBP2):c.4444+10A>T	MYCBP2-related disorder [RCV003927279]	likely benign	13	77185861	77185861	Human		name , trait , alternate_id
15201088	CV730924	single nucleotide variant	NM_015057.5(MYCBP2):c.13647+4T>A	MYCBP2-related disorder [RCV003920758]\|not provided [RCV000891095]	likely benign	13	77055554	77055554	Human		name , trait , alternate_id
150508542	CV1284308	deletion	NM_015057.5(MYCBP2):c.11824-17del	not provided [RCV001720416]	benign	13	77070728	77070728	Human		name
15117983	CV779688	single nucleotide variant	NM_015057.5(MYCBP2):c.11037-10G>A	MYCBP2-related disorder [RCV003935955]\|not provided [RCV000962295]	benign	13	77082003	77082003	Human		name , trait , alternate_id
329350759	CV2421800	deletion	NM_015057.5(MYCBP2):c.748+2_748+3del	not provided [RCV003159504]	uncertain significance	13	77278755	77278756	Human		name
405275269	CV3200071	deletion	NM_015057.5(MYCBP2):c.2940-9_2940-8del	MYCBP2-related disorder [RCV003974060]	benign	13	77217965	77217966	Human		name , trait , alternate_id
405286834	CV3205447	microsatellite	NM_015057.5(MYCBP2):c.1647+8_1647+10del	MYCBP2-related disorder [RCV003959617]	likely benign	13	77262043	77262045	Human		name , trait , alternate_id
329848550	CV2523294	indel	NM_015057.5(MYCBP2):c.2017_2017+12delinsC	not provided [RCV003225308]	uncertain significance	13	77260416	77260428	Human		name
616939403	CV4015738	single nucleotide variant	MYCBP2, THR3588ALA	not provided [RCV005413249]	uncertain significance				Human		name
329953712	CV2670439	single nucleotide variant	NM_015057.5(MYCBP2):c.8005C>T (p.Arg2669Ter)	MYCBP2-related disorder [RCV003234743]	uncertain significance	13	77125348	77125348	Human		name , trait , alternate_id
401934024	CV2802410	single nucleotide variant	NM_015057.5(MYCBP2):c.9679A>G (p.Met3227Val)	MYCBP2-related disorder [RCV003410802]	uncertain significance	13	77097475	77097475	Human		name , trait , alternate_id
401909361	CV2803788	single nucleotide variant	NM_015057.5(MYCBP2):c.4222A>C (p.Lys1408Gln)	MYCBP2-related disorder [RCV003397750]	uncertain significance	13	77188980	77188980	Human		name , trait , alternate_id
401931848	CV2803955	microsatellite	NM_015057.5(MYCBP2):c.3818GAG[1] (p.Gly1274del)	MYCBP2-related disorder [RCV003391501]	uncertain significance	13	77205276	77205278	Human		name , trait , alternate_id
401901933	CV2813939	single nucleotide variant	NM_015057.5(MYCBP2):c.11091C>T (p.Asn3697=)	MYCBP2-related disorder [RCV003954136]\|not provided [RCV003393349]	likely benign	13	77081939	77081939	Human		name , trait , alternate_id
401901936	CV2813942	single nucleotide variant	NM_015057.5(MYCBP2):c.8691G>A (p.Thr2897=)	MYCBP2-related disorder [RCV003954137]\|not provided [RCV003393352]	likely benign	13	77098463	77098463	Human		name , trait , alternate_id
401901939	CV2813945	single nucleotide variant	NM_015057.5(MYCBP2):c.5065G>A (p.Val1689Ile)	MYCBP2-related disorder [RCV003929049]\|not provided [RCV003393355]	likely benign	13	77180195	77180195	Human		name , trait , alternate_id
405286569	CV3192185	single nucleotide variant	NM_015057.5(MYCBP2):c.7953T>C (p.Asp2651=)	MYCBP2-related disorder [RCV003924095]	likely benign	13	77125400	77125400	Human		name , trait , alternate_id
405286455	CV3192842	single nucleotide variant	NM_015057.5(MYCBP2):c.12909C>T (p.Phe4303=)	MYCBP2-related disorder [RCV003981565]	likely benign	13	77061296	77061296	Human		name , trait , alternate_id
405292692	CV3192971	single nucleotide variant	NM_015057.5(MYCBP2):c.7263A>G (p.Gly2421=)	MYCBP2-related disorder [RCV003964655]	likely benign	13	77144485	77144485	Human		name , trait , alternate_id
405275953	CV3193175	single nucleotide variant	NM_015057.5(MYCBP2):c.14013G>A (p.Val4671=)	MYCBP2-related disorder [RCV003974341]	benign	13	77045402	77045402	Human		name , trait , alternate_id
405276664	CV3193442	single nucleotide variant	NM_015057.5(MYCBP2):c.1953T>G (p.Ser651=)	MYCBP2-related disorder [RCV003974610]	benign	13	77260492	77260492	Human		name , trait , alternate_id
405259058	CV3194485	single nucleotide variant	NM_015057.5(MYCBP2):c.12877C>T (p.Arg4293Ter)	MYCBP2-related disorder [RCV003893882]	uncertain significance	13	77061688	77061688	Human		name , trait , alternate_id
405275549	CV3196337	single nucleotide variant	NM_015057.5(MYCBP2):c.12379A>G (p.Thr4127Ala)	MYCBP2-related disorder [RCV003974187]	likely benign	13	77067657	77067657	Human		name , trait , alternate_id
405290667	CV3197090	single nucleotide variant	NM_015057.5(MYCBP2):c.6472T>C (p.Leu2158=)	MYCBP2-related disorder [RCV003984652]	benign	13	77164529	77164529	Human		name , trait , alternate_id
405290907	CV3197219	single nucleotide variant	NM_015057.5(MYCBP2):c.4141C>T (p.Gln1381Ter)	MYCBP2-related disorder [RCV003984782]	uncertain significance	13	77190265	77190265	Human		name , trait , alternate_id
405267169	CV3202145	single nucleotide variant	NM_015057.5(MYCBP2):c.6897A>T (p.Val2299=)	MYCBP2-related disorder [RCV003911617]	likely benign	13	77156076	77156076	Human		name , trait , alternate_id
405265213	CV3202242	single nucleotide variant	NM_015057.5(MYCBP2):c.8877T>C (p.Ser2959=)	MYCBP2-related disorder [RCV003897292]	likely benign	13	77098277	77098277	Human		name , trait , alternate_id
405284973	CV3202271	single nucleotide variant	NM_015057.5(MYCBP2):c.2781A>C (p.Thr927=)	MYCBP2-related disorder [RCV003909545]	likely benign	13	77225511	77225511	Human		name , trait , alternate_id
405289613	CV3205223	single nucleotide variant	NM_015057.5(MYCBP2):c.11739C>G (p.Leu3913=)	MYCBP2-related disorder [RCV003961808]	likely benign	13	77076835	77076835	Human		name , trait , alternate_id
405287418	CV3205684	single nucleotide variant	NM_015057.5(MYCBP2):c.10461A>G (p.Gln3487=)	MYCBP2-related disorder [RCV003959807]	likely benign	13	77090170	77090170	Human		name , trait , alternate_id
405285650	CV3206520	single nucleotide variant	NM_015057.5(MYCBP2):c.13011A>G (p.Ala4337=)	MYCBP2-related disorder [RCV003981228]	likely benign	13	77061194	77061194	Human		name , trait , alternate_id
405293397	CV3207395	single nucleotide variant	NM_015057.5(MYCBP2):c.9393A>G (p.Glu3131=)	MYCBP2-related disorder [RCV003931776]	likely benign	13	77097761	77097761	Human		name , trait , alternate_id
405290288	CV3207453	single nucleotide variant	NM_015057.5(MYCBP2):c.2412T>C (p.Gly804=)	MYCBP2-related disorder [RCV003927036]	likely benign	13	77243921	77243921	Human		name , trait , alternate_id
405287837	CV3208194	single nucleotide variant	NM_015057.5(MYCBP2):c.6342A>G (p.Gly2114=)	MYCBP2-related disorder [RCV003924581]	likely benign	13	77165390	77165390	Human		name , trait , alternate_id
405256216	CV3208712	single nucleotide variant	NM_015057.5(MYCBP2):c.3882T>C (p.Thr1294=)	MYCBP2-related disorder [RCV003939767]	benign	13	77194206	77194206	Human		name , trait , alternate_id
405274681	CV3209013	single nucleotide variant	NM_015057.5(MYCBP2):c.1542C>T (p.Phe514=)	MYCBP2-related disorder [RCV003951777]	likely benign	13	77263679	77263679	Human		name , trait , alternate_id
405285608	CV3209623	single nucleotide variant	NM_015057.5(MYCBP2):c.6227A>G (p.Asn2076Ser)	MYCBP2-related disorder [RCV003959206]	likely benign	13	77166442	77166442	Human		name , trait , alternate_id
405261224	CV3209626	single nucleotide variant	NM_015057.5(MYCBP2):c.5604C>T (p.Asn1868=)	MYCBP2-related disorder [RCV003944453]	likely benign	13	77174358	77174358	Human		name , trait , alternate_id
405288886	CV3209954	single nucleotide variant	NM_015057.5(MYCBP2):c.1295G>C (p.Ser432Thr)	MYCBP2-related disorder [RCV003961444]	likely benign	13	77267903	77267903	Human		name , trait , alternate_id
405261519	CV3210006	single nucleotide variant	NM_015057.5(MYCBP2):c.8736T>G (p.Pro2912=)	MYCBP2-related disorder [RCV003944526]	likely benign	13	77098418	77098418	Human		name , trait , alternate_id
405272995	CV3210250	single nucleotide variant	NM_015057.5(MYCBP2):c.8522G>A (p.Arg2841His)	MYCBP2-related disorder [RCV003914483]\|not provided [RCV004573426]	benign\|likely benign	13	77098632	77098632	Human		name , trait , alternate_id
405255738	CV3210785	single nucleotide variant	NM_015057.5(MYCBP2):c.4492A>G (p.Ile1498Val)	MYCBP2-related disorder [RCV003939298]	benign	13	77185330	77185330	Human		name , trait , alternate_id
405266229	CV3215894	single nucleotide variant	NM_015057.5(MYCBP2):c.8853C>T (p.Cys2951=)	MYCBP2-related disorder [RCV003947030]	likely benign	13	77098301	77098301	Human		name , trait , alternate_id
405262072	CV3216599	single nucleotide variant	NM_015057.5(MYCBP2):c.8184A>C (p.Thr2728=)	MYCBP2-related disorder [RCV003944665]	benign	13	77098970	77098970	Human		name , trait , alternate_id
405292168	CV3217164	single nucleotide variant	NM_015057.5(MYCBP2):c.63A>T (p.Gly21=)	MYCBP2-related disorder [RCV003964364]	benign	13	77326713	77326713	Human		name , trait , alternate_id
405282993	CV3218446	single nucleotide variant	NM_015057.5(MYCBP2):c.11136C>A (p.Gly3712=)	MYCBP2-related disorder [RCV003957245]	likely benign	13	77081894	77081894	Human		name , trait , alternate_id
405289863	CV3219115	single nucleotide variant	NM_015057.5(MYCBP2):c.11584C>T (p.Leu3862=)	MYCBP2-related disorder [RCV003962054]	likely benign	13	77077288	77077288	Human		name , trait , alternate_id
405272662	CV3220286	single nucleotide variant	NM_015057.5(MYCBP2):c.10554G>A (p.Pro3518=)	MYCBP2-related disorder [RCV003972218]	benign	13	77089003	77089003	Human		name , trait , alternate_id
408382768	CV3503572	single nucleotide variant	NM_015057.5(MYCBP2):c.2553T>G (p.Ile851Met)	MYCBP2-related disorder [RCV004730066]	uncertain significance	13	77243135	77243135	Human		name , trait , alternate_id
408376231	CV3505584	single nucleotide variant	NM_015057.5(MYCBP2):c.12065C>T (p.Ala4022Val)	MYCBP2-related disorder [RCV004726581]	uncertain significance	13	77068671	77068671	Human		name , trait , alternate_id
408382924	CV3506162	single nucleotide variant	NM_015057.5(MYCBP2):c.11118G>T (p.Leu3706Phe)	MYCBP2-related disorder [RCV004730248]	uncertain significance	13	77081912	77081912	Human		name , trait , alternate_id
408370169	CV3508049	single nucleotide variant	NM_015057.5(MYCBP2):c.5958G>C (p.Gln1986His)	MYCBP2-related disorder [RCV004739069]	uncertain significance	13	77168584	77168584	Human		name , trait , alternate_id
408370335	CV3508961	single nucleotide variant	NM_015057.5(MYCBP2):c.12856G>A (p.Asp4286Asn)	Inborn genetic diseases [RCV004953715]\|MYCBP2-related disorder [RCV004739173]	uncertain significance	13	77061709	77061709	Human	1	name , trait , alternate_id
408370390	CV3509915	single nucleotide variant	NM_015057.5(MYCBP2):c.10836G>A (p.Glu3612=)	MYCBP2-related disorder [RCV004739742]	likely benign	13	77087523	77087523	Human		name , trait , alternate_id
408371009	CV3514484	single nucleotide variant	NM_015057.5(MYCBP2):c.6515C>T (p.Ala2172Val)	MYCBP2-related disorder [RCV004740175]	uncertain significance	13	77164486	77164486	Human		name , trait , alternate_id
15193828	CV702734	single nucleotide variant	NM_015057.5(MYCBP2):c.13755G>A (p.Gln4585=)	MYCBP2-related disorder [RCV003978283]\|not provided [RCV000955481]	benign	13	77051811	77051811	Human		name , trait , alternate_id
15117978	CV713975	single nucleotide variant	NM_015057.5(MYCBP2):c.11718G>A (p.Thr3906=)	MYCBP2-related disorder [RCV003916072]\|not provided [RCV000962294]	benign	13	77077154	77077154	Human		name , trait , alternate_id
15167438	CV713976	single nucleotide variant	NM_015057.5(MYCBP2):c.8363T>C (p.Leu2788Ser)	MYCBP2-related disorder [RCV003960835]\|not provided [RCV000971400]	benign\|likely benign	13	77098791	77098791	Human		name , trait , alternate_id
15108715	CV713977	single nucleotide variant	NM_015057.5(MYCBP2):c.5755G>T (p.Ala1919Ser)	MYCBP2-related disorder [RCV003978359]\|not provided [RCV000960544]	benign	13	77171531	77171531	Human		name , trait , alternate_id
15117989	CV713978	single nucleotide variant	NM_015057.5(MYCBP2):c.5748C>G (p.Val1916=)	MYCBP2-related disorder [RCV003916073]\|not provided [RCV000962296]	benign	13	77171538	77171538	Human		name , trait , alternate_id
15127198	CV739080	single nucleotide variant	NM_015057.5(MYCBP2):c.10692A>C (p.Leu3564=)	MYCBP2-related disorder [RCV003950488]\|not provided [RCV000897065]	likely benign	13	77088865	77088865	Human		name , trait , alternate_id
15117095	CV739082	single nucleotide variant	NM_015057.5(MYCBP2):c.6147A>C (p.Thr2049=)	MYCBP2-related disorder [RCV003968181]\|not provided [RCV000895318]	benign\|likely benign	13	77166522	77166522	Human		name , trait , alternate_id
15122475	CV739086	single nucleotide variant	NM_015057.5(MYCBP2):c.2T>G (p.Met1Arg)	MYCBP2-related disorder [RCV003922873]\|not provided [RCV000896246]	likely benign	13	77326774	77326774	Human		name , trait , alternate_id
401901942	CV2813948	single nucleotide variant	NM_015057.5(MYCBP2):c.45G>A (p.Ser15=)	not provided [RCV003393358]	likely benign	13	77326731	77326731	Human		name
405026105	CV2850516	single nucleotide variant	NM_015057.5(MYCBP2):c.3G>C (p.Met1Ile)	MYCBP2-associated disorder [RCV003494008]\|not provided [RCV003488074]	uncertain significance	13	77326773	77326773	Human	1	name , trait
156147078	CV2212809	single nucleotide variant	NM_032133.6(MYCBPAP):c.8C>T (p.Ser3Phe)	not specified [RCV004091492]	uncertain significance	17	50508682	50508682	Human		name
155908433	CV2354635	single nucleotide variant	NM_015057.5(MYCBP2):c.76G>T (p.Ala26Ser)	Inborn genetic diseases [RCV002990866]	uncertain significance	13	77326700	77326700	Human	1	name
401901941	CV2813947	single nucleotide variant	NM_015057.5(MYCBP2):c.831T>G (p.Leu277=)	not provided [RCV003393357]	likely benign	13	77273586	77273586	Human		name
15133048	CV753895	single nucleotide variant	NM_015057.5(MYCBP2):c.780C>G (p.Thr260=)	not provided [RCV000920448]	likely benign	13	77273637	77273637	Human		name
156230258	CV2235037	single nucleotide variant	NM_015057.5(MYCBP2):c.119C>G (p.Pro40Arg)	Inborn genetic diseases [RCV002767605]	uncertain significance	13	77326657	77326657	Human	1	name
156108929	CV2355438	single nucleotide variant	NM_015057.5(MYCBP2):c.257A>G (p.Asn86Ser)	Inborn genetic diseases [RCV002980467]	likely benign	13	77326519	77326519	Human	1	name
329387068	CV2452830	single nucleotide variant	NM_015057.5(MYCBP2):c.100C>G (p.Pro34Ala)	Inborn genetic diseases [RCV003215073]	uncertain significance	13	77326676	77326676	Human	1	name
329953118	CV2669829	single nucleotide variant	NM_015057.5(MYCBP2):c.179C>T (p.Ser60Phe)	not provided [RCV003234453]	uncertain significance	13	77326597	77326597	Human		name
401860354	CV2749613	single nucleotide variant	NM_015057.5(MYCBP2):c.160G>C (p.Gly54Arg)	not provided [RCV003332741]	uncertain significance	13	77326616	77326616	Human		name
405752713	CV3316145	single nucleotide variant	NM_015057.5(MYCBP2):c.2382G>T (p.Gly794=)	Inborn genetic diseases [RCV004454030]	likely benign	13	77243951	77243951	Human	1	name
405752916	CV3316175	single nucleotide variant	NM_015057.5(MYCBP2):c.270G>T (p.Gln90His)	Inborn genetic diseases [RCV004454060]	uncertain significance	13	77326506	77326506	Human	1	name
405752991	CV3316186	single nucleotide variant	NM_015057.5(MYCBP2):c.286G>A (p.Gly96Arg)	Inborn genetic diseases [RCV004454071]	uncertain significance	13	77326490	77326490	Human	1	name
405753022	CV3316191	single nucleotide variant	NM_015057.5(MYCBP2):c.295G>A (p.Ala99Thr)	Inborn genetic diseases [RCV004454076]	uncertain significance	13	77326481	77326481	Human	1	name
407504123	CV3454254	single nucleotide variant	NM_032133.6(MYCBPAP):c.86G>A (p.Arg29Gln)	not specified [RCV004645700]	uncertain significance	17	50516579	50516579	Human		name
408386234	CV3522430	single nucleotide variant	NM_015057.5(MYCBP2):c.254T>A (p.Leu85His)	not provided [RCV004767790]	uncertain significance	13	77326522	77326522	Human		name
597709878	CV3554805	single nucleotide variant	NM_015057.5(MYCBP2):c.223G>T (p.Asp75Tyr)	Inborn genetic diseases [RCV004958902]	uncertain significance	13	77326553	77326553	Human	1	name
597645750	CV3554855	single nucleotide variant	NM_032133.6(MYCBPAP):c.44C>T (p.Thr15Ile)	not specified [RCV004826174]	uncertain significance	17	50508718	50508718	Human		name
598264058	CV3983179	single nucleotide variant	NM_015057.5(MYCBP2):c.124C>T (p.Pro42Ser)	Inborn genetic diseases [RCV005387667]	uncertain significance	13	77326652	77326652	Human	1	name
598188553	CV3983185	single nucleotide variant	NM_015057.5(MYCBP2):c.175G>T (p.Asp59Tyr)	Inborn genetic diseases [RCV005373738]	uncertain significance	13	77326601	77326601	Human	1	name
598188591	CV3983196	single nucleotide variant	NM_032133.6(MYCBPAP):c.64G>A (p.Glu22Lys)	not specified [RCV005373745]	uncertain significance	17	50508738	50508738	Human		name
155800683	CV1863784	single nucleotide variant	NM_015057.5(MYCBP2):c.347A>G (p.Lys116Arg)	not provided [RCV002474207]	uncertain significance	13	77296630	77296630	Human		name
156075101	CV2230111	single nucleotide variant	NM_015057.5(MYCBP2):c.391G>C (p.Glu131Gln)	Inborn genetic diseases [RCV002737588]	uncertain significance	13	77288364	77288364	Human	1	name
156151849	CV2265860	single nucleotide variant	NM_015057.5(MYCBP2):c.599T>C (p.Ile200Thr)	Inborn genetic diseases [RCV002826828]	uncertain significance	13	77278907	77278907	Human	1	name
156275888	CV2316491	single nucleotide variant	NM_015057.5(MYCBP2):c.592A>G (p.Lys198Glu)	Inborn genetic diseases [RCV002934633]	uncertain significance	13	77288163	77288163	Human	1	name
329370240	CV2461644	single nucleotide variant	NM_015057.5(MYCBP2):c.644G>A (p.Arg215Gln)	Inborn genetic diseases [RCV003209328]	uncertain significance	13	77278862	77278862	Human	1	name
329952367	CV2671717	single nucleotide variant	NM_015057.5(MYCBP2):c.679C>T (p.Gln227Ter)	not provided [RCV003237113]	uncertain significance	13	77278827	77278827	Human		name
401720122	CV2675781	single nucleotide variant	NM_015057.5(MYCBP2):c.946G>T (p.Val316Leu)	Inborn genetic diseases [RCV003243919]	uncertain significance	13	77270538	77270538	Human	1	name
401755738	CV2731068	single nucleotide variant	NM_032133.6(MYCBPAP):c.137C>T (p.Pro46Leu)	not specified [RCV004332645]	uncertain significance	17	50516630	50516630	Human		name
401796277	CV2740483	single nucleotide variant	NM_015057.5(MYCBP2):c.7401G>A (p.Lys2467=)	not provided [RCV003321153]	likely pathogenic	13	77140846	77140846	Human		name
401876617	CV2757181	single nucleotide variant	NM_015057.5(MYCBP2):c.952A>G (p.Thr318Ala)	Inborn genetic diseases [RCV003363265]	uncertain significance	13	77270532	77270532	Human	1	name
405697548	CV3313133	single nucleotide variant	NM_032133.6(MYCBPAP):c.176T>C (p.Leu59Ser)	not specified [RCV004446509]	uncertain significance	17	50516669	50516669	Human		name
405697561	CV3313135	single nucleotide variant	NM_032133.6(MYCBPAP):c.230A>G (p.Lys77Arg)	not specified [RCV004446511]	uncertain significance	17	50517318	50517318	Human		name
405697583	CV3313139	single nucleotide variant	NM_032133.6(MYCBPAP):c.241C>T (p.Arg81Cys)	not specified [RCV004446515]	uncertain significance	17	50517329	50517329	Human		name
408391636	CV3523290	single nucleotide variant	NM_015057.5(MYCBP2):c.433C>A (p.Pro145Thr)	not provided [RCV004770663]	uncertain significance	13	77288322	77288322	Human		name
408386583	CV3524086	single nucleotide variant	NM_015057.5(MYCBP2):c.656C>T (p.Pro219Leu)	not provided [RCV004767960]	uncertain significance	13	77278850	77278850	Human		name
408381792	CV3526601	single nucleotide variant	NM_015057.5(MYCBP2):c.973A>G (p.Arg325Gly)	not provided [RCV004771914]	uncertain significance	13	77270511	77270511	Human		name
408381812	CV3526608	single nucleotide variant	NM_015057.5(MYCBP2):c.693C>G (p.Asn231Lys)	not provided [RCV004771921]	uncertain significance	13	77278813	77278813	Human		name
596922609	CV3530009	single nucleotide variant	NM_015057.5(MYCBP2):c.532A>G (p.Ser178Gly)	not provided [RCV004776608]	uncertain significance	13	77288223	77288223	Human		name
596921459	CV3535105	single nucleotide variant	NM_015057.5(MYCBP2):c.832T>G (p.Ser278Ala)	not provided [RCV004784664]	uncertain significance	13	77273585	77273585	Human		name
597701418	CV3554779	single nucleotide variant	NM_015057.5(MYCBP2):c.965C>T (p.Ser322Leu)	Inborn genetic diseases [RCV004956699]	uncertain significance	13	77270519	77270519	Human	1	name
597709936	CV3554815	single nucleotide variant	NM_015057.5(MYCBP2):c.394A>G (p.Asn132Asp)	Inborn genetic diseases [RCV004958911]	uncertain significance	13	77288361	77288361	Human	1	name
597710001	CV3554827	single nucleotide variant	NM_015057.5(MYCBP2):c.988G>A (p.Val330Ile)	Inborn genetic diseases [RCV004958922]	uncertain significance	13	77270496	77270496	Human	1	name
597645636	CV3554839	single nucleotide variant	NM_032133.6(MYCBPAP):c.257A>T (p.Lys86Ile)	not specified [RCV004826158]	uncertain significance	17	50517345	50517345	Human		name
597645743	CV3554854	single nucleotide variant	NM_032133.6(MYCBPAP):c.164A>G (p.Asp55Gly)	not specified [RCV004826173]	uncertain significance	17	50516657	50516657	Human		name
597645757	CV3554856	single nucleotide variant	NM_032133.6(MYCBPAP):c.240A>C (p.Lys80Asn)	not specified [RCV004826175]	uncertain significance	17	50517328	50517328	Human		name
14396806	CV612975	single nucleotide variant	NM_015057.5(MYCBP2):c.7989C>T (p.Gly2663=)	not provided [RCV000761858]	uncertain significance	13	77125364	77125364	Human		name
15180269	CV725523	single nucleotide variant	NM_015057.5(MYCBP2):c.4827G>A (p.Ala1609=)	not provided [RCV000885486]	benign	13	77181815	77181815	Human		name
15178960	CV739081	single nucleotide variant	NM_015057.5(MYCBP2):c.9486T>C (p.His3162=)	not provided [RCV000906996]	likely benign	13	77097668	77097668	Human		name
15192898	CV739085	single nucleotide variant	NM_015057.5(MYCBP2):c.901G>T (p.Ala301Ser)	not provided [RCV000910679]	benign	13	77273516	77273516	Human		name
15155635	CV753890	single nucleotide variant	NM_015057.5(MYCBP2):c.8025T>C (p.Ala2675=)	not provided [RCV000924504]	likely benign	13	77121488	77121488	Human		name
15164949	CV753891	single nucleotide variant	NM_015057.5(MYCBP2):c.7035C>T (p.Asp2345=)	not provided [RCV000926506]	likely benign	13	77150830	77150830	Human		name
15165706	CV753892	single nucleotide variant	NM_015057.5(MYCBP2):c.6579T>C (p.Leu2193=)	not provided [RCV000926692]	likely benign	13	77161924	77161924	Human		name
15200945	CV753893	single nucleotide variant	NM_015057.5(MYCBP2):c.4566T>C (p.Asn1522=)	not provided [RCV000912994]	likely benign	13	77185256	77185256	Human		name
15194292	CV769631	single nucleotide variant	NM_015057.5(MYCBP2):c.6486A>G (p.Leu2162=)	not provided [RCV000933602]	likely benign	13	77164515	77164515	Human		name
8627470	CV82614	single nucleotide variant	NM_015057.4(MYCBP2):c.9150T>C (p.Ala3050=)	Malignant melanoma [RCV000062694]	not provided	13	77098004	77098004	Human		name
8627472	CV82616	single nucleotide variant	NM_015057.4(MYCBP2):c.8163A>G (p.Thr2721=)	Malignant melanoma [RCV000062696]	not provided	13	77098991	77098991	Human		name
8628020	CV83164	single nucleotide variant	NM_032133.4(MYCBPAP):c.2085C>T (p.Ile695=)	Malignant melanoma [RCV000063244]	not provided	17	50526054	50526054	Human		name
8628021	CV83165	single nucleotide variant	NM_032133.4(MYCBPAP):c.2202G>A (p.Val734=)	Malignant melanoma [RCV000063245]	not provided	17	50526171	50526171	Human		name
150534735	CV1311551	single nucleotide variant	NM_015057.5(MYCBP2):c.1835G>A (p.Gly612Glu)	Global developmental delay [RCV001779397]	uncertain significance	13	77261188	77261188	Human	2	name
155645014	CV1710530	duplication	NM_015057.5(MYCBP2):c.6717dup (p.Leu2240fs)	not provided [RCV002293826]	uncertain significance	13	77157989	77157990	Human		name
155645065	CV1710554	single nucleotide variant	NM_015057.5(MYCBP2):c.2341A>G (p.Ser781Gly)	not provided [RCV002293850]	uncertain significance	13	77251191	77251191	Human		name
156080624	CV2195359	single nucleotide variant	NM_032133.6(MYCBPAP):c.755G>A (p.Arg252Gln)	not specified [RCV004080276]	likely benign	17	50519076	50519076	Human		name
156245266	CV2218959	single nucleotide variant	NM_032133.6(MYCBPAP):c.820A>G (p.Met274Val)	not specified [RCV004087141]	uncertain significance	17	50519691	50519691	Human		name
155977209	CV2231827	single nucleotide variant	NM_032133.6(MYCBPAP):c.865A>C (p.Met289Leu)	not specified [RCV004098630]	likely benign	17	50519736	50519736	Human		name
155920617	CV2240389	single nucleotide variant	NM_015057.5(MYCBP2):c.2537T>C (p.Val846Ala)	Inborn genetic diseases [RCV002772951]	uncertain significance	13	77243151	77243151	Human	1	name
156164700	CV2243375	single nucleotide variant	NM_015057.5(MYCBP2):c.2179T>A (p.Phe727Ile)	Inborn genetic diseases [RCV002787710]	uncertain significance	13	77251353	77251353	Human	1	name
156140377	CV2247051	single nucleotide variant	NM_015057.5(MYCBP2):c.1195A>G (p.Ile399Val)	Inborn genetic diseases [RCV002763492]	uncertain significance	13	77270057	77270057	Human	1	name
156268576	CV2275632	single nucleotide variant	NM_032133.6(MYCBPAP):c.587A>G (p.His196Arg)	not specified [RCV004137259]	uncertain significance	17	50518659	50518659	Human		name
156133176	CV2284562	single nucleotide variant	NM_032133.6(MYCBPAP):c.694G>A (p.Gly232Arg)	not specified [RCV004140734]	uncertain significance	17	50519015	50519015	Human		name
156210139	CV2309633	single nucleotide variant	NM_015057.5(MYCBP2):c.2689C>G (p.Leu897Val)	Inborn genetic diseases [RCV002875403]	uncertain significance	13	77233204	77233204	Human	1	name
156037698	CV2313564	single nucleotide variant	NM_015057.5(MYCBP2):c.2903A>T (p.Gln968Leu)	Inborn genetic diseases [RCV002910398]	uncertain significance	13	77224487	77224487	Human	1	name
156294740	CV2321437	single nucleotide variant	NM_015057.5(MYCBP2):c.2894G>A (p.Gly965Asp)	Inborn genetic diseases [RCV002935876]	uncertain significance	13	77224496	77224496	Human	1	name
156279259	CV2325224	single nucleotide variant	NM_015057.5(MYCBP2):c.2506A>T (p.Ile836Leu)	Inborn genetic diseases [RCV002921606]	uncertain significance	13	77243827	77243827	Human	1	name
156047830	CV2336399	single nucleotide variant	NM_032133.6(MYCBPAP):c.758G>A (p.Arg253His)	not specified [RCV004194618]	likely benign	17	50519079	50519079	Human		name
156079614	CV2341265	single nucleotide variant	NM_015057.5(MYCBP2):c.1213C>T (p.Arg405Cys)	Inborn genetic diseases [RCV002951719]	uncertain significance	13	77270039	77270039	Human	1	name
156171751	CV2355018	single nucleotide variant	NM_032133.6(MYCBPAP):c.860G>A (p.Gly287Asp)	not specified [RCV004198417]	uncertain significance	17	50519731	50519731	Human		name
156196978	CV2357519	single nucleotide variant	NM_032133.6(MYCBPAP):c.947G>A (p.Arg316His)	not specified [RCV004202797]	uncertain significance	17	50521140	50521140	Human		name
156209328	CV2370096	single nucleotide variant	NM_015057.5(MYCBP2):c.1812C>A (p.Phe604Leu)	Inborn genetic diseases [RCV003006687]	uncertain significance	13	77261211	77261211	Human	1	name
156072784	CV2376859	single nucleotide variant	NM_015057.5(MYCBP2):c.2539C>T (p.Pro847Ser)	Inborn genetic diseases [RCV002694061]	uncertain significance	13	77243149	77243149	Human	1	name
155991214	CV2384171	single nucleotide variant	NM_032133.6(MYCBPAP):c.370G>A (p.Gly124Ser)	not specified [RCV004227569]	uncertain significance	17	50517600	50517600	Human		name
155962337	CV2388211	single nucleotide variant	NM_032133.6(MYCBPAP):c.661A>G (p.Lys221Glu)	not specified [RCV004234670]	uncertain significance	17	50518982	50518982	Human		name
329356063	CV2430561	single nucleotide variant	NM_015057.5(MYCBP2):c.2308A>G (p.Thr770Ala)	Inborn genetic diseases [RCV003178024]	uncertain significance	13	77251224	77251224	Human	1	name
329390426	CV2440232	single nucleotide variant	NM_032133.6(MYCBPAP):c.946C>T (p.Arg316Cys)	not specified [RCV004260676]	uncertain significance	17	50521139	50521139	Human		name
329398355	CV2465041	single nucleotide variant	NM_015057.5(MYCBP2):c.1430A>C (p.Asp477Ala)	Inborn genetic diseases [RCV003220457]	uncertain significance	13	77263930	77263930	Human	1	name
401724525	CV2672277	single nucleotide variant	NM_015057.5(MYCBP2):c.2630G>C (p.Gly877Ala)	not provided [RCV003239178]	uncertain significance	13	77233263	77233263	Human		name
401724925	CV2672336	single nucleotide variant	NM_015057.5(MYCBP2):c.1974A>C (p.Glu658Asp)	not provided [RCV003239237]	uncertain significance	13	77260471	77260471	Human		name
401730254	CV2680066	single nucleotide variant	NM_015057.5(MYCBP2):c.2711T>C (p.Leu904Pro)	Inborn genetic diseases [RCV003248154]	uncertain significance	13	77233182	77233182	Human	1	name
401783368	CV2723498	single nucleotide variant	NM_015057.5(MYCBP2):c.1573A>G (p.Thr525Ala)	Inborn genetic diseases [RCV003309507]	uncertain significance	13	77262127	77262127	Human	1	name
401774563	CV2728198	single nucleotide variant	NM_032133.6(MYCBPAP):c.857G>A (p.Arg286His)	not specified [RCV004324239]	uncertain significance	17	50519728	50519728	Human		name
401767581	CV2729770	single nucleotide variant	NM_015057.5(MYCBP2):c.2587C>T (p.Arg863Trp)	Inborn genetic diseases [RCV003302260]	uncertain significance	13	77243101	77243101	Human	1	name
401724151	CV2737997	single nucleotide variant	NM_015057.5(MYCBP2):c.2143C>T (p.Arg715Ter)	See cases [RCV003328106]	pathogenic	13	77257704	77257704	Human		name
401740561	CV2738733	single nucleotide variant	NM_015057.5(MYCBP2):c.1896A>G (p.Ile632Met)	not provided [RCV003318127]	uncertain significance	13	77260549	77260549	Human		name
401799033	CV2741609	single nucleotide variant	NM_015057.5(MYCBP2):c.2392T>G (p.Cys798Gly)	not provided [RCV003323017]	uncertain significance	13	77243941	77243941	Human		name
401799139	CV2741716	single nucleotide variant	NM_015057.5(MYCBP2):c.1000A>G (p.Lys334Glu)	not provided [RCV003323124]	uncertain significance	13	77270484	77270484	Human		name
401859191	CV2771465	single nucleotide variant	NM_032133.6(MYCBPAP):c.538A>G (p.Lys180Glu)	not specified [RCV004348511]	uncertain significance	17	50518610	50518610	Human		name
401880932	CV2787723	single nucleotide variant	NM_032133.6(MYCBPAP):c.821T>C (p.Met274Thr)	not specified [RCV004356640]	uncertain significance	17	50519692	50519692	Human		name
401901931	CV2813937	single nucleotide variant	NM_015057.5(MYCBP2):c.13206C>T (p.Asn4402=)	not provided [RCV003393347]	likely benign	13	77058341	77058341	Human		name
401901934	CV2813940	single nucleotide variant	NM_015057.5(MYCBP2):c.10498A>C (p.Arg3500=)	not provided [RCV003393350]	likely benign	13	77090133	77090133	Human		name
404980474	CV2850514	single nucleotide variant	NM_015057.5(MYCBP2):c.2279A>G (p.Lys760Arg)	not provided [RCV003488072]	uncertain significance	13	77251253	77251253	Human		name
404980486	CV2850518	single nucleotide variant	NM_015057.5(MYCBP2):c.2264C>T (p.Pro755Leu)	not provided [RCV003488076]	uncertain significance	13	77251268	77251268	Human		name
405697641	CV3313150	single nucleotide variant	NM_032133.6(MYCBPAP):c.319C>T (p.Arg107Cys)	not specified [RCV004446526]	uncertain significance	17	50517407	50517407	Human		name
405697743	CV3313167	single nucleotide variant	NM_032133.6(MYCBPAP):c.626G>A (p.Arg209Gln)	not specified [RCV004446543]	uncertain significance	17	50518698	50518698	Human		name
405697797	CV3313176	single nucleotide variant	NM_032133.6(MYCBPAP):c.716A>G (p.Gln239Arg)	not specified [RCV004446552]	uncertain significance	17	50519037	50519037	Human		name
405697918	CV3313195	single nucleotide variant	NM_032133.6(MYCBPAP):c.867G>A (p.Met289Ile)	not specified [RCV004446571]	uncertain significance	17	50519738	50519738	Human		name
405752950	CV3316180	single nucleotide variant	NM_015057.5(MYCBP2):c.2822G>A (p.Arg941Gln)	Inborn genetic diseases [RCV004454065]	uncertain significance	13	77225470	77225470	Human	1	name
407514691	CV3454223	single nucleotide variant	NM_015057.5(MYCBP2):c.2744G>A (p.Ser915Asn)	Inborn genetic diseases [RCV004649611]	uncertain significance	13	77225548	77225548	Human	1	name
407514706	CV3454238	single nucleotide variant	NM_015057.5(MYCBP2):c.1516T>A (p.Leu506Ile)	Inborn genetic diseases [RCV004649618]	uncertain significance	13	77263705	77263705	Human	1	name
407504111	CV3454241	single nucleotide variant	NM_015057.5(MYCBP2):c.1366A>C (p.Thr456Pro)	Inborn genetic diseases [RCV004645695]	uncertain significance	13	77263994	77263994	Human	1	name
407514715	CV3454245	single nucleotide variant	NM_015057.5(MYCBP2):c.2644G>C (p.Ala882Pro)	Inborn genetic diseases [RCV004649622]	uncertain significance	13	77233249	77233249	Human	1	name
407514718	CV3454246	single nucleotide variant	NM_015057.5(MYCBP2):c.2689C>A (p.Leu897Ile)	Inborn genetic diseases [RCV004649623]	uncertain significance	13	77233204	77233204	Human	1	name
407504116	CV3454247	single nucleotide variant	NM_015057.5(MYCBP2):c.2695T>C (p.Ser899Pro)	Inborn genetic diseases [RCV004645697]	uncertain significance	13	77233198	77233198	Human	1	name
407514761	CV3454251	single nucleotide variant	NM_015057.5(MYCBP2):c.2508A>G (p.Ile836Met)	Inborn genetic diseases [RCV004649625]	uncertain significance	13	77243825	77243825	Human	1	name
407504130	CV3454257	single nucleotide variant	NM_032133.6(MYCBPAP):c.461A>G (p.Asn154Ser)	not specified [RCV004645702]	uncertain significance	17	50517691	50517691	Human		name
408373341	CV3502233	single nucleotide variant	NM_015057.5(MYCBP2):c.2803C>T (p.Arg935Ter)	not provided [RCV004725820]	pathogenic	13	77225489	77225489	Human		name
408373809	CV3502352	single nucleotide variant	NM_015057.5(MYCBP2):c.2501A>C (p.Glu834Ala)	not provided [RCV004725939]	uncertain significance	13	77243832	77243832	Human		name
408392606	CV3519514	single nucleotide variant	NM_015057.5(MYCBP2):c.1583A>G (p.Asp528Gly)	not provided [RCV004763810]	uncertain significance	13	77262117	77262117	Human		name
408393656	CV3519864	single nucleotide variant	NM_015057.5(MYCBP2):c.2887A>G (p.Thr963Ala)	not provided [RCV004764160]	uncertain significance	13	77224503	77224503	Human		name
408390039	CV3524891	single nucleotide variant	NM_015057.5(MYCBP2):c.2734A>G (p.Lys912Glu)	not provided [RCV004769786]	uncertain significance	13	77233159	77233159	Human		name
408390240	CV3524994	single nucleotide variant	NM_015057.5(MYCBP2):c.1745T>C (p.Ile582Thr)	not provided [RCV004769889]	uncertain significance	13	77261278	77261278	Human		name
408393301	CV3528425	single nucleotide variant	NM_015057.5(MYCBP2):c.2174A>G (p.Lys725Arg)	not provided [RCV004776193]	uncertain significance	13	77257673	77257673	Human		name
408389159	CV3529246	single nucleotide variant	NM_015057.5(MYCBP2):c.1335A>C (p.Gln445His)	not provided [RCV004774068]	uncertain significance	13	77267863	77267863	Human		name
596923378	CV3530362	single nucleotide variant	NM_015057.5(MYCBP2):c.1885C>G (p.Pro629Ala)	not provided [RCV004776961]	uncertain significance	13	77260560	77260560	Human		name
596921136	CV3534753	single nucleotide variant	NM_015057.5(MYCBP2):c.1957A>G (p.Ile653Val)	not provided [RCV004784310]	uncertain significance	13	77260488	77260488	Human		name
596922794	CV3537403	single nucleotide variant	NM_015057.5(MYCBP2):c.2407T>G (p.Ser803Ala)	not provided [RCV004787373]	uncertain significance	13	77243926	77243926	Human		name
597651756	CV3552035	single nucleotide variant	NM_015057.5(MYCBP2):c.1522G>T (p.Ala508Ser)	not provided [RCV004820748]	uncertain significance	13	77263699	77263699	Human		name
597701426	CV3554780	single nucleotide variant	NM_015057.5(MYCBP2):c.1703C>T (p.Ala568Val)	Inborn genetic diseases [RCV004956700]	uncertain significance	13	77261320	77261320	Human	1	name
597701437	CV3554782	single nucleotide variant	NM_015057.5(MYCBP2):c.2258T>C (p.Met753Thr)	Inborn genetic diseases [RCV004956702]	uncertain significance	13	77251274	77251274	Human	1	name
597709913	CV3554812	single nucleotide variant	NM_015057.5(MYCBP2):c.1768G>C (p.Asp590His)	Inborn genetic diseases [RCV004958908]	uncertain significance	13	77261255	77261255	Human	1	name
597709969	CV3554821	single nucleotide variant	NM_015057.5(MYCBP2):c.1627A>T (p.Met543Leu)	Inborn genetic diseases [RCV004958916]	uncertain significance	13	77262073	77262073	Human	1	name
597710020	CV3554832	single nucleotide variant	NM_015057.5(MYCBP2):c.1571G>A (p.Ser524Asn)	Inborn genetic diseases [RCV004958925]	uncertain significance	13	77262129	77262129	Human	1	name
597645644	CV3554840	single nucleotide variant	NM_032133.6(MYCBPAP):c.335A>T (p.Asp112Val)	not specified [RCV004826159]	uncertain significance	17	50517423	50517423	Human		name
597645692	CV3554847	single nucleotide variant	NM_032133.6(MYCBPAP):c.724C>T (p.Arg242Trp)	not specified [RCV004826166]	uncertain significance	17	50519045	50519045	Human		name
597645705	CV3554849	single nucleotide variant	NM_032133.6(MYCBPAP):c.611G>A (p.Arg204His)	not specified [RCV004826168]	uncertain significance	17	50518683	50518683	Human		name
597916947	CV3779452	single nucleotide variant	NM_015057.5(MYCBP2):c.1240T>C (p.Ser414Pro)	not provided [RCV005129593]	uncertain significance	13	77270012	77270012	Human		name
597935359	CV3863588	single nucleotide variant	NM_015057.5(MYCBP2):c.2176G>A (p.Gly726Arg)	not provided [RCV005207401]	uncertain significance	13	77257671	77257671	Human		name
598175724	CV3891028	single nucleotide variant	NM_015057.5(MYCBP2):c.2812T>G (p.Cys938Gly)	not provided [RCV005251881]	uncertain significance	13	77225480	77225480	Human		name
598159752	CV3897152	single nucleotide variant	NM_015057.5(MYCBP2):c.1307T>G (p.Ile436Arg)	not provided [RCV005368126]	uncertain significance	13	77267891	77267891	Human		name
598188434	CV3983153	single nucleotide variant	NM_015057.5(MYCBP2):c.1471C>T (p.Pro491Ser)	Inborn genetic diseases [RCV005373716]	uncertain significance	13	77263750	77263750	Human	1	name
598188439	CV3983154	single nucleotide variant	NM_015057.5(MYCBP2):c.2885A>G (p.Tyr962Cys)	Inborn genetic diseases [RCV005373717]	uncertain significance	13	77224505	77224505	Human	1	name
598188474	CV3983163	single nucleotide variant	NM_015057.5(MYCBP2):c.2687G>A (p.Arg896Lys)	Inborn genetic diseases [RCV005373723]	uncertain significance	13	77233206	77233206	Human	1	name
598188498	CV3983170	single nucleotide variant	NM_015057.5(MYCBP2):c.1405A>G (p.Ile469Val)	Inborn genetic diseases [RCV005373728]	uncertain significance	13	77263955	77263955	Human	1	name
598188525	CV3983178	single nucleotide variant	NM_015057.5(MYCBP2):c.1937A>G (p.Asn646Ser)	Inborn genetic diseases [RCV005373733]	uncertain significance	13	77260508	77260508	Human	1	name
598188529	CV3983180	single nucleotide variant	NM_015057.5(MYCBP2):c.2972G>A (p.Gly991Asp)	Inborn genetic diseases [RCV005373734]	uncertain significance	13	77217925	77217925	Human	1	name
598188537	CV3983181	single nucleotide variant	NM_015057.5(MYCBP2):c.2005T>A (p.Ser669Thr)	Inborn genetic diseases [RCV005373735]	uncertain significance	13	77260440	77260440	Human	1	name
598188584	CV3983194	single nucleotide variant	NM_032133.6(MYCBPAP):c.985C>T (p.Arg329Cys)	not specified [RCV005373744]	uncertain significance	17	50521178	50521178	Human		name
598188618	CV3983200	single nucleotide variant	NM_032133.6(MYCBPAP):c.805T>C (p.Tyr269His)	not specified [RCV005373749]	uncertain significance	17	50519676	50519676	Human		name
598273353	CV3983202	single nucleotide variant	NM_032133.6(MYCBPAP):c.545C>T (p.Pro182Leu)	not specified [RCV005389653]	uncertain significance	17	50518617	50518617	Human		name
616935956	CV4015897	single nucleotide variant	NM_015057.5(MYCBP2):c.2852A>G (p.His951Arg)	not provided [RCV005414761]	uncertain significance	13	77225440	77225440	Human		name
616936336	CV4016423	single nucleotide variant	NM_015057.5(MYCBP2):c.1612C>T (p.Arg538Ter)	not provided [RCV005415289]	likely pathogenic	13	77262088	77262088	Human		name
617153716	CV4016792	single nucleotide variant	NM_015057.5(MYCBP2):c.1363C>T (p.His455Tyr)	not provided [RCV005415889]	uncertain significance	13	77263997	77263997	Human		name
15161306	CV739084	single nucleotide variant	NM_015057.5(MYCBP2):c.2338G>T (p.Ala780Ser)	not provided [RCV000903321]	benign	13	77251194	77251194	Human		name
15105454	CV753889	single nucleotide variant	NM_015057.5(MYCBP2):c.10191A>G (p.Thr3397=)	not provided [RCV000915550]	benign	13	77095366	77095366	Human		name
15105459	CV753894	single nucleotide variant	NM_015057.5(MYCBP2):c.2055G>C (p.Gln685His)	not provided [RCV000915551]	likely benign	13	77257792	77257792	Human		name
155644742	CV1710371	single nucleotide variant	NM_015057.5(MYCBP2):c.5201G>A (p.Gly1734Asp)	not provided [RCV002293667]	uncertain significance	13	77177887	77177887	Human		name
155645044	CV1710544	single nucleotide variant	NM_015057.5(MYCBP2):c.9175C>G (p.Pro3059Ala)	not provided [RCV002293840]	uncertain significance	13	77097979	77097979	Human		name
155645095	CV1710575	single nucleotide variant	NM_015057.5(MYCBP2):c.5752C>T (p.Arg1918Ter)	not provided [RCV002293871]	uncertain significance	13	77171534	77171534	Human		name
155645115	CV1710595	single nucleotide variant	NM_015057.5(MYCBP2):c.5357A>G (p.Asp1786Gly)	not provided [RCV002293891]	uncertain significance	13	77176612	77176612	Human		name
155645174	CV1710654	deletion	NM_015057.5(MYCBP2):c.11540del (p.Asp3847fs)	not provided [RCV002293950]	uncertain significance	13	77077332	77077332	Human		name
9687007	CV171540	single nucleotide variant	NM_015057.5(MYCBP2):c.7770G>A (p.Met2590Ile)	Prostate cancer [RCV000149226]	uncertain significance	13	77126432	77126432	Human	2	name
155944338	CV1935522	single nucleotide variant	NM_015057.5(MYCBP2):c.4225A>G (p.Arg1409Gly)	not provided [RCV002511269]	uncertain significance	13	77188977	77188977	Human		name
156266430	CV2198742	single nucleotide variant	NM_015057.5(MYCBP2):c.9904C>T (p.Arg3302Cys)	Inborn genetic diseases [RCV002669274]	uncertain significance	13	77096362	77096362	Human	1	name
156319815	CV2200600	single nucleotide variant	NM_032133.6(MYCBPAP):c.2051G>A (p.Ser684Asn)	not specified [RCV004078940]	uncertain significance	17	50526149	50526149	Human		name
156177598	CV2201527	single nucleotide variant	NM_032133.6(MYCBPAP):c.1940G>A (p.Arg647His)	not specified [RCV004080018]	likely benign	17	50526038	50526038	Human		name
156110737	CV2207714	single nucleotide variant	NM_015057.5(MYCBP2):c.6983C>T (p.Pro2328Leu)	Inborn genetic diseases [RCV002707183]	uncertain significance	13	77150882	77150882	Human	1	name
155915979	CV2239619	single nucleotide variant	NM_015057.5(MYCBP2):c.7726A>G (p.Met2576Val)	Inborn genetic diseases [RCV002772298]	uncertain significance	13	77126476	77126476	Human	1	name
155987906	CV2251169	single nucleotide variant	NM_032133.6(MYCBPAP):c.2800G>A (p.Glu934Lys)	not specified [RCV004115401]	uncertain significance	17	50531402	50531402	Human		name
156070840	CV2251371	single nucleotide variant	NM_032133.6(MYCBPAP):c.2683C>A (p.Pro895Thr)	not specified [RCV004115575]	uncertain significance	17	50529147	50529147	Human		name
156142119	CV2257229	single nucleotide variant	NM_015057.5(MYCBP2):c.5525A>G (p.Asn1842Ser)	Inborn genetic diseases [RCV002826262]	uncertain significance	13	77174437	77174437	Human	1	name
156359599	CV2257819	single nucleotide variant	NM_015057.5(MYCBP2):c.5539A>G (p.Met1847Val)	Inborn genetic diseases [RCV002812614]	uncertain significance	13	77174423	77174423	Human	1	name
156101008	CV2260301	single nucleotide variant	NM_015057.5(MYCBP2):c.6424G>A (p.Ala2142Thr)	Inborn genetic diseases [RCV002799125]	uncertain significance	13	77165308	77165308	Human	1	name
156017757	CV2262954	single nucleotide variant	NM_015057.5(MYCBP2):c.9917A>C (p.Lys3306Thr)	Inborn genetic diseases [RCV002844340]	uncertain significance	13	77096349	77096349	Human	1	name
156018472	CV2263205	single nucleotide variant	NM_032133.6(MYCBPAP):c.1397A>G (p.Gln466Arg)	not specified [RCV004131434]	uncertain significance	17	50523078	50523078	Human		name
156021517	CV2264466	single nucleotide variant	NM_032133.6(MYCBPAP):c.1372C>T (p.Arg458Trp)	not specified [RCV004138361]	uncertain significance	17	50523053	50523053	Human		name
156365310	CV2272091	single nucleotide variant	NM_032133.6(MYCBPAP):c.1100C>T (p.Thr367Ile)	not specified [RCV004124880]	uncertain significance	17	50521383	50521383	Human		name
156161034	CV2272559	single nucleotide variant	NM_015057.5(MYCBP2):c.8495C>G (p.Ser2832Cys)	Inborn genetic diseases [RCV002827381]	uncertain significance	13	77098659	77098659	Human	1	name
155906950	CV2279576	single nucleotide variant	NM_032133.6(MYCBPAP):c.1186A>G (p.Ile396Val)	not specified [RCV004142079]	likely benign	17	50522010	50522010	Human		name
156172901	CV2286999	single nucleotide variant	NM_015057.5(MYCBP2):c.9421A>G (p.Thr3141Ala)	Inborn genetic diseases [RCV002873204]	uncertain significance	13	77097733	77097733	Human	1	name
156147681	CV2289522	single nucleotide variant	NM_015057.5(MYCBP2):c.9956T>C (p.Val3319Ala)	Inborn genetic diseases [RCV002850699]	uncertain significance	13	77095601	77095601	Human	1	name
156271684	CV2290378	single nucleotide variant	NM_015057.5(MYCBP2):c.6449G>C (p.Gly2150Ala)	Inborn genetic diseases [RCV002856057]	uncertain significance	13	77165283	77165283	Human	1	name
156285979	CV2292039	single nucleotide variant	NM_015057.5(MYCBP2):c.7277A>C (p.His2426Pro)	Inborn genetic diseases [RCV002896819]	uncertain significance	13	77144471	77144471	Human	1	name
156184289	CV2294864	single nucleotide variant	NM_015057.5(MYCBP2):c.7688T>C (p.Phe2563Ser)	Inborn genetic diseases [RCV002892157]	uncertain significance	13	77126514	77126514	Human	1	name
155930362	CV2299879	single nucleotide variant	NM_032133.6(MYCBPAP):c.1603G>A (p.Asp535Asn)	not specified [RCV004149019]	uncertain significance	17	50523752	50523752	Human		name
156192155	CV2301867	single nucleotide variant	NM_032133.6(MYCBPAP):c.2114A>G (p.Glu705Gly)	not specified [RCV004156658]	uncertain significance	17	50526212	50526212	Human		name
155908089	CV2302353	single nucleotide variant	NM_032133.6(MYCBPAP):c.1852A>C (p.Lys618Gln)	not specified [RCV004161107]	uncertain significance	17	50525950	50525950	Human		name
156187988	CV2302827	single nucleotide variant	NM_015057.5(MYCBP2):c.9520A>G (p.Thr3174Ala)	Inborn genetic diseases [RCV002892364]	uncertain significance	13	77097634	77097634	Human	1	name
155912445	CV2308845	single nucleotide variant	NM_015057.5(MYCBP2):c.9662G>A (p.Gly3221Asp)	Inborn genetic diseases [RCV002902817]	uncertain significance	13	77097492	77097492	Human	1	name
156096114	CV2310155	single nucleotide variant	NM_015057.5(MYCBP2):c.6068T>C (p.Ile2023Thr)	Inborn genetic diseases [RCV002888333]	uncertain significance	13	77168474	77168474	Human	1	name
156307176	CV2312214	single nucleotide variant	NM_015057.5(MYCBP2):c.9928G>A (p.Glu3310Lys)	Inborn genetic diseases [RCV002898488]	uncertain significance	13	77096338	77096338	Human	1	name
156053899	CV2326467	single nucleotide variant	NM_015057.5(MYCBP2):c.7859G>A (p.Gly2620Glu)	Inborn genetic diseases [RCV002950264]	uncertain significance	13	77126343	77126343	Human	1	name
156051039	CV2328928	single nucleotide variant	NM_015057.5(MYCBP2):c.6335T>C (p.Leu2112Ser)	Inborn genetic diseases [RCV002950107]	uncertain significance	13	77166334	77166334	Human	1	name
156327881	CV2332166	single nucleotide variant	NM_032133.6(MYCBPAP):c.1097A>G (p.Tyr366Cys)	not specified [RCV004189202]	uncertain significance	17	50521380	50521380	Human		name
156035045	CV2338854	single nucleotide variant	NM_015057.5(MYCBP2):c.8545A>G (p.Asn2849Asp)	Inborn genetic diseases [RCV002976800]	uncertain significance	13	77098609	77098609	Human	1	name
156332559	CV2339801	single nucleotide variant	NM_015057.5(MYCBP2):c.3967G>A (p.Val1323Ile)	Inborn genetic diseases [RCV002964348]	uncertain significance	13	77191782	77191782	Human	1	name
156344441	CV2346061	single nucleotide variant	NM_015057.5(MYCBP2):c.9448A>G (p.Met3150Val)	Inborn genetic diseases [RCV002965704]	uncertain significance	13	77097706	77097706	Human	1	name
156243061	CV2347050	single nucleotide variant	NM_032133.6(MYCBPAP):c.2233G>A (p.Ala745Thr)	not specified [RCV004204534]	uncertain significance	17	50527350	50527350	Human		name
156002538	CV2347694	single nucleotide variant	NM_015057.5(MYCBP2):c.9196G>A (p.Ala3066Thr)	Inborn genetic diseases [RCV002997109]	uncertain significance	13	77097958	77097958	Human	1	name
156227589	CV2352841	single nucleotide variant	NM_032133.6(MYCBPAP):c.1750G>A (p.Glu584Lys)	not specified [RCV004198846]	likely benign	17	50524991	50524991	Human		name
156067145	CV2356618	single nucleotide variant	NM_015057.5(MYCBP2):c.5827A>G (p.Ser1943Gly)	Inborn genetic diseases [RCV003000527]	uncertain significance	13	77169682	77169682	Human	1	name
156013703	CV2359148	single nucleotide variant	NM_015057.5(MYCBP2):c.8467A>G (p.Lys2823Glu)	Inborn genetic diseases [RCV002998065]	uncertain significance	13	77098687	77098687	Human	1	name
156162734	CV2368280	single nucleotide variant	NM_032133.6(MYCBPAP):c.1549C>G (p.Leu517Val)	not specified [RCV004219065]	uncertain significance	17	50523698	50523698	Human		name
156385037	CV2371676	single nucleotide variant	NM_032133.6(MYCBPAP):c.2422C>T (p.Pro808Ser)	not specified [RCV004216914]	uncertain significance	17	50528709	50528709	Human		name
156346138	CV2373028	single nucleotide variant	NM_015057.5(MYCBP2):c.8644C>T (p.Arg2882Cys)	Inborn genetic diseases [RCV002675041]	uncertain significance	13	77098510	77098510	Human	1	name
156165145	CV2376324	single nucleotide variant	NM_032133.6(MYCBPAP):c.2221C>G (p.Leu741Val)	not specified [RCV004222584]	uncertain significance	17	50527338	50527338	Human		name
156347967	CV2383017	single nucleotide variant	NM_015057.5(MYCBP2):c.4415T>G (p.Val1472Gly)	Inborn genetic diseases [RCV002675269]	uncertain significance	13	77185900	77185900	Human	1	name
156053241	CV2385497	single nucleotide variant	NM_032133.6(MYCBPAP):c.2634G>C (p.Leu878Phe)	not specified [RCV004233142]	uncertain significance	17	50529098	50529098	Human		name
156105712	CV2387034	single nucleotide variant	NM_015057.5(MYCBP2):c.8240G>A (p.Arg2747His)	Inborn genetic diseases [RCV002739382]	likely benign	13	77098914	77098914	Human	1	name
155956314	CV2387263	single nucleotide variant	NM_015057.5(MYCBP2):c.9593G>A (p.Cys3198Tyr)	Inborn genetic diseases [RCV002753555]	uncertain significance	13	77097561	77097561	Human	1	name
156112351	CV2387906	single nucleotide variant	NM_015057.5(MYCBP2):c.3088G>A (p.Val1030Met)	Inborn genetic diseases [RCV002739798]	uncertain significance	13	77212130	77212130	Human	1	name
156202755	CV2392601	single nucleotide variant	NM_015057.5(MYCBP2):c.3980C>T (p.Ala1327Val)	Inborn genetic diseases [RCV002789881]	uncertain significance	13	77191769	77191769	Human	1	name
156146965	CV2394380	single nucleotide variant	NM_032133.6(MYCBPAP):c.2657T>C (p.Ile886Thr)	not specified [RCV004240758]	likely benign	17	50529121	50529121	Human		name
156150181	CV2394632	single nucleotide variant	NM_032133.6(MYCBPAP):c.1712C>T (p.Pro571Leu)	not specified [RCV004240972]	uncertain significance	17	50524953	50524953	Human		name
329350213	CV2421611	single nucleotide variant	NM_015057.5(MYCBP2):c.6530A>G (p.Asp2177Gly)	not provided [RCV003159313]	uncertain significance	13	77164471	77164471	Human		name
329373805	CV2434594	single nucleotide variant	NM_015057.5(MYCBP2):c.5114C>T (p.Ala1705Val)	Inborn genetic diseases [RCV003173218]	uncertain significance	13	77180146	77180146	Human	1	name
329361718	CV2437852	single nucleotide variant	NM_015057.5(MYCBP2):c.8249G>A (p.Arg2750Gln)	Inborn genetic diseases [RCV003180571]	uncertain significance	13	77098905	77098905	Human	1	name
329360891	CV2439862	single nucleotide variant	NM_015057.5(MYCBP2):c.6968A>G (p.Asp2323Gly)	Inborn genetic diseases [RCV003180148]	uncertain significance	13	77150897	77150897	Human	1	name
329379674	CV2443510	single nucleotide variant	NM_015057.5(MYCBP2):c.8572G>C (p.Val2858Leu)	Inborn genetic diseases [RCV003175188]	uncertain significance	13	77098582	77098582	Human	1	name
329362608	CV2444769	single nucleotide variant	NM_015057.5(MYCBP2):c.7775A>G (p.Lys2592Arg)	Inborn genetic diseases [RCV003180936]	uncertain significance	13	77126427	77126427	Human	1	name
329391929	CV2445151	single nucleotide variant	NM_032133.6(MYCBPAP):c.2545G>T (p.Gly849Trp)	not specified [RCV004263792]	uncertain significance	17	50528832	50528832	Human		name
329389705	CV2445321	single nucleotide variant	NM_015057.5(MYCBP2):c.9608A>G (p.Lys3203Arg)	Inborn genetic diseases [RCV003191251]	uncertain significance	13	77097546	77097546	Human	1	name
329391832	CV2448811	single nucleotide variant	NM_015057.5(MYCBP2):c.6280A>G (p.Ile2094Val)	Inborn genetic diseases [RCV003192270]	uncertain significance	13	77166389	77166389	Human	1	name
329393871	CV2449916	single nucleotide variant	NM_015057.5(MYCBP2):c.7648G>A (p.Val2550Ile)	Inborn genetic diseases [RCV003193389]	uncertain significance	13	77139207	77139207	Human	1	name
329390294	CV2453874	single nucleotide variant	NM_015057.5(MYCBP2):c.3980C>G (p.Ala1327Gly)	Inborn genetic diseases [RCV003191546]	uncertain significance	13	77191769	77191769	Human	1	name
329379490	CV2456263	single nucleotide variant	NM_015057.5(MYCBP2):c.7894T>C (p.Ser2632Pro)	Inborn genetic diseases [RCV003212473]	uncertain significance	13	77125459	77125459	Human	1	name
329394270	CV2460687	single nucleotide variant	NM_015057.5(MYCBP2):c.9263G>A (p.Arg3088Lys)	Inborn genetic diseases [RCV003193616]	uncertain significance	13	77097891	77097891	Human	1	name
329389331	CV2467276	single nucleotide variant	NM_015057.5(MYCBP2):c.8822T>C (p.Leu2941Ser)	Inborn genetic diseases [RCV003216226]	uncertain significance	13	77098332	77098332	Human	1	name
329381660	CV2471276	single nucleotide variant	NM_015057.5(MYCBP2):c.6548G>A (p.Gly2183Asp)	Inborn genetic diseases [RCV003213124]	uncertain significance	13	77161955	77161955	Human	1	name
329363569	CV2471786	single nucleotide variant	NM_015057.5(MYCBP2):c.9569G>A (p.Cys3190Tyr)	Inborn genetic diseases [RCV003206449]	uncertain significance	13	77097585	77097585	Human	1	name
329399006	CV2471843	single nucleotide variant	NM_015057.5(MYCBP2):c.8452C>T (p.Arg2818Trp)	Inborn genetic diseases [RCV003220728]	uncertain significance	13	77098702	77098702	Human	1	name
329350262	CV2477310	single nucleotide variant	NM_015057.5(MYCBP2):c.3793G>C (p.Gly1265Arg)	not provided [RCV003221635]	uncertain significance	13	77205306	77205306	Human		name
329848630	CV2523376	single nucleotide variant	NM_015057.5(MYCBP2):c.6458A>T (p.Glu2153Val)	not provided [RCV003225390]	uncertain significance	13	77165274	77165274	Human		name
329847436	CV2524272	single nucleotide variant	NM_015057.5(MYCBP2):c.3862G>C (p.Asp1288His)	not provided [RCV003227164]	uncertain significance	13	77194226	77194226	Human		name
329848195	CV2667814	single nucleotide variant	NM_015057.5(MYCBP2):c.6041G>A (p.Cys2014Tyr)	not provided [RCV003229381]	uncertain significance	13	77168501	77168501	Human		name
329953952	CV2669294	single nucleotide variant	NM_015057.5(MYCBP2):c.6925A>T (p.Lys2309Ter)	Inborn genetic diseases [RCV005382617]\|not provided [RCV003231801]	uncertain significance	13	77150940	77150940	Human	1	name
329953990	CV2669332	single nucleotide variant	NM_015057.5(MYCBP2):c.6552T>G (p.Asn2184Lys)	not provided [RCV003231839]	uncertain significance	13	77161951	77161951	Human		name
401741596	CV2680443	single nucleotide variant	NM_015057.5(MYCBP2):c.8164T>C (p.Ser2722Pro)	Inborn genetic diseases [RCV003251492]	uncertain significance	13	77098990	77098990	Human	1	name
401736340	CV2682996	single nucleotide variant	NM_015057.5(MYCBP2):c.4793C>G (p.Thr1598Arg)	Inborn genetic diseases [RCV003239572]	uncertain significance	13	77181849	77181849	Human	1	name
401739345	CV2684063	single nucleotide variant	NM_032133.6(MYCBPAP):c.2689G>A (p.Val897Ile)	not specified [RCV004295660]	uncertain significance	17	50529153	50529153	Human		name
401745250	CV2698499	single nucleotide variant	NM_015057.5(MYCBP2):c.5761A>G (p.Lys1921Glu)	Inborn genetic diseases [RCV003275464]	uncertain significance	13	77171525	77171525	Human	1	name
401776344	CV2707208	single nucleotide variant	NM_032133.6(MYCBPAP):c.1043G>T (p.Gly348Val)	not specified [RCV004315566]	uncertain significance	17	50521326	50521326	Human		name
401718464	CV2708313	single nucleotide variant	NM_032133.6(MYCBPAP):c.2174T>C (p.Val725Ala)	not specified [RCV004311647]	uncertain significance	17	50527291	50527291	Human		name
401765680	CV2717808	single nucleotide variant	NM_015057.5(MYCBP2):c.5566G>A (p.Val1856Met)	Inborn genetic diseases [RCV003282333]	uncertain significance	13	77174396	77174396	Human	1	name
401763050	CV2720176	single nucleotide variant	NM_015057.5(MYCBP2):c.4765G>A (p.Ala1589Thr)	Inborn genetic diseases [RCV003300423]	uncertain significance	13	77181877	77181877	Human	1	name
401763053	CV2720177	single nucleotide variant	NM_032133.6(MYCBPAP):c.1008G>C (p.Met336Ile)	not specified [RCV004323730]	uncertain significance	17	50521201	50521201	Human		name
401772890	CV2720401	single nucleotide variant	NM_015057.5(MYCBP2):c.8242A>G (p.Met2748Val)	Inborn genetic diseases [RCV003304808]	uncertain significance	13	77098912	77098912	Human	1	name
401779924	CV2725774	single nucleotide variant	NM_032133.6(MYCBPAP):c.1942T>G (p.Phe648Val)	not specified [RCV004322463]	uncertain significance	17	50526040	50526040	Human		name
401741943	CV2726111	single nucleotide variant	NM_015057.5(MYCBP2):c.4500A>C (p.Lys1500Asn)	Inborn genetic diseases [RCV003292715]	uncertain significance	13	77185322	77185322	Human	1	name
401761976	CV2726986	single nucleotide variant	NM_015057.5(MYCBP2):c.9672T>G (p.Phe3224Leu)	Inborn genetic diseases [RCV003300041]	uncertain significance	13	77097482	77097482	Human	1	name
401729537	CV2733143	single nucleotide variant	NM_015057.5(MYCBP2):c.9424T>C (p.Phe3142Leu)	Inborn genetic diseases [RCV003288961]	uncertain significance	13	77097730	77097730	Human	1	name
401828011	CV2744383	single nucleotide variant	NM_015057.5(MYCBP2):c.3255C>G (p.His1085Gln)	not provided [RCV003327780]	uncertain significance	13	77211963	77211963	Human		name
401828254	CV2744613	single nucleotide variant	NM_015057.5(MYCBP2):c.6565G>A (p.Asp2189Asn)	not provided [RCV003328011]	uncertain significance	13	77161938	77161938	Human		name
401829202	CV2747279	single nucleotide variant	NM_015057.5(MYCBP2):c.9929A>G (p.Glu3310Gly)	not provided [RCV003328744]	uncertain significance	13	77096337	77096337	Human		name
401830592	CV2748239	single nucleotide variant	NM_015057.5(MYCBP2):c.3802G>C (p.Gly1268Arg)	not provided [RCV003329847]	uncertain significance	13	77205297	77205297	Human		name
401830890	CV2748514	single nucleotide variant	NM_015057.5(MYCBP2):c.5125G>C (p.Gly1709Arg)	Autism spectrum disorder due to AUTS2 deficiency [RCV003330163]	uncertain significance	13	77180135	77180135	Human	1	name
401871027	CV2749490	single nucleotide variant	NM_015057.5(MYCBP2):c.9364T>C (p.Ser3122Pro)	not provided [RCV003332618]	uncertain significance	13	77097790	77097790	Human		name
401871561	CV2749559	single nucleotide variant	NM_015057.5(MYCBP2):c.4549A>G (p.Met1517Val)	not provided [RCV003332687]	uncertain significance	13	77185273	77185273	Human		name
401871877	CV2749600	single nucleotide variant	NM_015057.5(MYCBP2):c.8209A>C (p.Lys2737Gln)	not provided [RCV003332728]	uncertain significance	13	77098945	77098945	Human		name
401855991	CV2754198	single nucleotide variant	NM_015057.5(MYCBP2):c.5362A>G (p.Thr1788Ala)	Inborn genetic diseases [RCV003340149]	uncertain significance	13	77176607	77176607	Human	1	name
401865501	CV2755540	single nucleotide variant	NM_015057.5(MYCBP2):c.6839G>A (p.Arg2280His)	Inborn genetic diseases [RCV003344652]	uncertain significance	13	77156134	77156134	Human	1	name
401860804	CV2758637	single nucleotide variant	NM_032133.6(MYCBPAP):c.2674C>T (p.Pro892Ser)	not specified [RCV004337711]	uncertain significance	17	50529138	50529138	Human		name
401884456	CV2761743	single nucleotide variant	NM_015057.5(MYCBP2):c.8453G>A (p.Arg2818Gln)	Inborn genetic diseases [RCV003366192]	uncertain significance	13	77098701	77098701	Human	1	name
401863074	CV2765886	single nucleotide variant	NM_015057.5(MYCBP2):c.4439T>G (p.Val1480Gly)	Inborn genetic diseases [RCV003378299]	uncertain significance	13	77185876	77185876	Human	1	name
401870343	CV2765887	single nucleotide variant	NM_015057.5(MYCBP2):c.9950A>G (p.Glu3317Gly)	Inborn genetic diseases [RCV003361178]	uncertain significance	13	77096316	77096316	Human	1	name
401865093	CV2768666	single nucleotide variant	NM_032133.6(MYCBPAP):c.1237G>A (p.Gly413Ser)	not specified [RCV004344514]	uncertain significance	17	50522061	50522061	Human		name
401891482	CV2769183	single nucleotide variant	NM_015057.5(MYCBP2):c.9307G>T (p.Ala3103Ser)	Inborn genetic diseases [RCV003369340]	uncertain significance	13	77097847	77097847	Human	1	name
401886360	CV2771194	single nucleotide variant	NM_015057.5(MYCBP2):c.9032A>T (p.Asp3011Val)	Inborn genetic diseases [RCV003351955]	uncertain significance	13	77098122	77098122	Human	1	name
401887334	CV2773379	single nucleotide variant	NM_032133.6(MYCBPAP):c.2682C>A (p.Asp894Glu)	not specified [RCV004354028]	uncertain significance	17	50529146	50529146	Human		name
401882057	CV2774682	single nucleotide variant	NM_015057.5(MYCBP2):c.9032A>G (p.Asp3011Gly)	Inborn genetic diseases [RCV003350258]	uncertain significance	13	77098122	77098122	Human	1	name
401860797	CV2776195	single nucleotide variant	NM_015057.5(MYCBP2):c.4688G>T (p.Cys1563Phe)	Inborn genetic diseases [RCV003357544]	uncertain significance	13	77185134	77185134	Human	1	name
401861396	CV2779707	single nucleotide variant	NM_015057.5(MYCBP2):c.6944A>G (p.Gln2315Arg)	Inborn genetic diseases [RCV003357804]	uncertain significance	13	77150921	77150921	Human	1	name
401874713	CV2781174	single nucleotide variant	NM_032133.6(MYCBPAP):c.2021G>C (p.Arg674Thr)	not specified [RCV004352222]	uncertain significance	17	50526119	50526119	Human		name
401876109	CV2789297	single nucleotide variant	NM_015057.5(MYCBP2):c.5237C>G (p.Ala1746Gly)	Inborn genetic diseases [RCV003383297]	uncertain significance	13	77177851	77177851	Human	1	name
401901938	CV2813944	single nucleotide variant	NM_015057.5(MYCBP2):c.6067A>G (p.Ile2023Val)	not provided [RCV003393354]	uncertain significance	13	77168475	77168475	Human		name
401901940	CV2813946	single nucleotide variant	NM_015057.5(MYCBP2):c.3630G>C (p.Met1210Ile)	not provided [RCV003393356]	uncertain significance	13	77205558	77205558	Human		name
401916975	CV2829595	single nucleotide variant	NM_015057.5(MYCBP2):c.5282T>C (p.Phe1761Ser)	not provided [RCV003443639]	uncertain significance	13	77177806	77177806	Human		name
401917026	CV2829623	single nucleotide variant	NM_015057.5(MYCBP2):c.9432G>A (p.Met3144Ile)	not provided [RCV003443667]	uncertain significance	13	77097722	77097722	Human		name
401912750	CV2829974	single nucleotide variant	NM_015057.5(MYCBP2):c.7448G>A (p.Ser2483Asn)	not provided [RCV003441188]	uncertain significance	13	77140117	77140117	Human		name
404980478	CV2850515	single nucleotide variant	NM_015057.5(MYCBP2):c.6680A>G (p.Asn2227Ser)	not provided [RCV003488073]	uncertain significance	13	77158027	77158027	Human		name
404980482	CV2850517	single nucleotide variant	NM_015057.5(MYCBP2):c.7303G>A (p.Asp2435Asn)	not provided [RCV003488075]	uncertain significance	13	77144445	77144445	Human		name
404980491	CV2850519	single nucleotide variant	NM_015057.5(MYCBP2):c.6260A>T (p.His2087Leu)	not provided [RCV003488077]	uncertain significance	13	77166409	77166409	Human		name
405696878	CV3312996	single nucleotide variant	NM_032133.6(MYCBPAP):c.1037T>C (p.Ile346Thr)	not specified [RCV004446372]	uncertain significance	17	50521320	50521320	Human		name
405696929	CV3313004	single nucleotide variant	NM_032133.6(MYCBPAP):c.1081G>A (p.Val361Ile)	not specified [RCV004446380]	uncertain significance	17	50521364	50521364	Human		name
405697022	CV3313020	single nucleotide variant	NM_032133.6(MYCBPAP):c.1276G>C (p.Ala426Pro)	not specified [RCV004446396]	uncertain significance	17	50522957	50522957	Human		name
405697106	CV3313034	single nucleotide variant	NM_032133.6(MYCBPAP):c.1578T>G (p.Asn526Lys)	not specified [RCV004446410]	uncertain significance	17	50523727	50523727	Human		name
405697164	CV3313042	single nucleotide variant	NM_032133.6(MYCBPAP):c.1603G>T (p.Asp535Tyr)	not specified [RCV004446418]	uncertain significance	17	50523752	50523752	Human		name
405697200	CV3313048	single nucleotide variant	NM_032133.6(MYCBPAP):c.1615G>A (p.Asp539Asn)	not specified [RCV004446424]	uncertain significance	17	50523764	50523764	Human		name
405697226	CV3313053	single nucleotide variant	NM_032133.6(MYCBPAP):c.1693C>G (p.Leu565Val)	not specified [RCV004446429]	uncertain significance	17	50524934	50524934	Human		name
405697252	CV3313057	single nucleotide variant	NM_032133.6(MYCBPAP):c.1718G>A (p.Arg573His)	not specified [RCV004446433]	uncertain significance	17	50524959	50524959	Human		name
405697324	CV3313069	single nucleotide variant	NM_032133.6(MYCBPAP):c.1882G>A (p.Glu628Lys)	not specified [RCV004446445]	uncertain significance	17	50525980	50525980	Human		name
405697352	CV3313074	single nucleotide variant	NM_032133.6(MYCBPAP):c.1891A>G (p.Ser631Gly)	not specified [RCV004446450]	uncertain significance	17	50525989	50525989	Human		name
405698068	CV3313098	single nucleotide variant	NM_032133.6(MYCBPAP):c.2285A>C (p.Gln762Pro)	not specified [RCV004446474]	uncertain significance	17	50527402	50527402	Human		name
405698063	CV3313099	single nucleotide variant	NM_032133.6(MYCBPAP):c.2419C>A (p.Pro807Thr)	not specified [RCV004446475]	uncertain significance	17	50528706	50528706	Human		name
405697485	CV3313122	single nucleotide variant	NM_032133.6(MYCBPAP):c.2678T>C (p.Ile893Thr)	not specified [RCV004446498]	uncertain significance	17	50529142	50529142	Human		name
405753065	CV3316197	single nucleotide variant	NM_015057.5(MYCBP2):c.3485C>T (p.Ala1162Val)	Inborn genetic diseases [RCV004454082]	uncertain significance	13	77206757	77206757	Human	1	name
405753105	CV3316203	single nucleotide variant	NM_015057.5(MYCBP2):c.3580C>A (p.His1194Asn)	Inborn genetic diseases [RCV004454088]	uncertain significance	13	77206662	77206662	Human	1	name
405753132	CV3316207	single nucleotide variant	NM_015057.5(MYCBP2):c.3763C>T (p.Arg1255Cys)	Inborn genetic diseases [RCV004454092]	uncertain significance	13	77205336	77205336	Human	1	name
405753247	CV3316225	single nucleotide variant	NM_015057.5(MYCBP2):c.4238G>T (p.Arg1413Ile)	Inborn genetic diseases [RCV004454110]	uncertain significance	13	77188964	77188964	Human	1	name
405753268	CV3316228	single nucleotide variant	NM_015057.5(MYCBP2):c.4388G>T (p.Gly1463Val)	Inborn genetic diseases [RCV004454113]	uncertain significance	13	77185927	77185927	Human	1	name
405753306	CV3316234	single nucleotide variant	NM_015057.5(MYCBP2):c.4394G>A (p.Cys1465Tyr)	Inborn genetic diseases [RCV004454119]	uncertain significance	13	77185921	77185921	Human	1	name
405753390	CV3316247	single nucleotide variant	NM_015057.5(MYCBP2):c.4672G>A (p.Ala1558Thr)	Inborn genetic diseases [RCV004454132]	uncertain significance	13	77185150	77185150	Human	1	name
405753428	CV3316252	single nucleotide variant	NM_015057.5(MYCBP2):c.4742A>G (p.Lys1581Arg)	Inborn genetic diseases [RCV004454137]	uncertain significance	13	77181900	77181900	Human	1	name
405753516	CV3316264	single nucleotide variant	NM_015057.5(MYCBP2):c.4867G>A (p.Val1623Ile)	Inborn genetic diseases [RCV004454149]	uncertain significance	13	77181775	77181775	Human	1	name
405753560	CV3316270	single nucleotide variant	NM_015057.5(MYCBP2):c.5008G>A (p.Val1670Met)	Inborn genetic diseases [RCV004454155]	uncertain significance	13	77180252	77180252	Human	1	name
405753640	CV3316282	single nucleotide variant	NM_015057.5(MYCBP2):c.5410A>G (p.Thr1804Ala)	Inborn genetic diseases [RCV004454167]	uncertain significance	13	77176559	77176559	Human	1	name
405753722	CV3316295	single nucleotide variant	NM_015057.5(MYCBP2):c.5618C>A (p.Thr1873Asn)	Inborn genetic diseases [RCV004454180]	uncertain significance	13	77174344	77174344	Human	1	name
405753802	CV3316306	single nucleotide variant	NM_015057.5(MYCBP2):c.5936C>T (p.Pro1979Leu)	Inborn genetic diseases [RCV004454191]	uncertain significance	13	77168606	77168606	Human	1	name
405753958	CV3316328	single nucleotide variant	NM_015057.5(MYCBP2):c.6974C>G (p.Ala2325Gly)	Inborn genetic diseases [RCV004454213]	uncertain significance	13	77150891	77150891	Human	1	name
405753979	CV3316331	single nucleotide variant	NM_015057.5(MYCBP2):c.7003C>A (p.Pro2335Thr)	Inborn genetic diseases [RCV004454216]	uncertain significance	13	77150862	77150862	Human	1	name
405753994	CV3316333	single nucleotide variant	NM_015057.5(MYCBP2):c.7084C>T (p.Pro2362Ser)	Inborn genetic diseases [RCV004454218]	uncertain significance	13	77150781	77150781	Human	1	name
405754022	CV3316337	single nucleotide variant	NM_015057.5(MYCBP2):c.7117A>G (p.Ile2373Val)	Inborn genetic diseases [RCV004454222]	uncertain significance	13	77150748	77150748	Human	1	name
405754059	CV3316342	single nucleotide variant	NM_015057.5(MYCBP2):c.7241A>G (p.Asn2414Ser)	Inborn genetic diseases [RCV004454227]	uncertain significance	13	77144507	77144507	Human	1	name
405754112	CV3316350	single nucleotide variant	NM_015057.5(MYCBP2):c.7457C>T (p.Ser2486Phe)	Inborn genetic diseases [RCV004454235]	uncertain significance	13	77140108	77140108	Human	1	name
405754287	CV3316376	single nucleotide variant	NM_015057.5(MYCBP2):c.8006G>A (p.Arg2669Gln)	Inborn genetic diseases [RCV004454261]	uncertain significance	13	77125347	77125347	Human	1	name
405754299	CV3316378	single nucleotide variant	NM_015057.5(MYCBP2):c.8147G>A (p.Arg2716Gln)	Inborn genetic diseases [RCV004454263]	uncertain significance	13	77099007	77099007	Human	1	name
405754363	CV3316387	single nucleotide variant	NM_015057.5(MYCBP2):c.8248C>T (p.Arg2750Trp)	Inborn genetic diseases [RCV004454272]	uncertain significance	13	77098906	77098906	Human	1	name
405754472	CV3316402	single nucleotide variant	NM_015057.5(MYCBP2):c.8500C>T (p.Pro2834Ser)	Inborn genetic diseases [RCV004454287]	uncertain significance	13	77098654	77098654	Human	1	name
405754579	CV3316417	single nucleotide variant	NM_015057.5(MYCBP2):c.8815A>G (p.Ser2939Gly)	Inborn genetic diseases [RCV004454302]	uncertain significance	13	77098339	77098339	Human	1	name
405754628	CV3316424	single nucleotide variant	NM_015057.5(MYCBP2):c.8980A>G (p.Asn2994Asp)	Inborn genetic diseases [RCV004454309]	uncertain significance	13	77098174	77098174	Human	1	name
405754791	CV3316448	single nucleotide variant	NM_015057.5(MYCBP2):c.9443A>G (p.Asn3148Ser)	Inborn genetic diseases [RCV004454333]	uncertain significance	13	77097711	77097711	Human	1	name
405754924	CV3316468	single nucleotide variant	NM_015057.5(MYCBP2):c.9577C>T (p.Leu3193Phe)	Inborn genetic diseases [RCV004454353]	uncertain significance	13	77097577	77097577	Human	1	name
405754997	CV3316478	single nucleotide variant	NM_015057.5(MYCBP2):c.9871A>G (p.Ile3291Val)	Inborn genetic diseases [RCV004454363]	uncertain significance	13	77096395	77096395	Human	1	name
407427426	CV3411891	single nucleotide variant	NM_015057.5(MYCBP2):c.9896T>G (p.Val3299Gly)	not provided [RCV004592062]	pathogenic	13	77096370	77096370	Human		name
407514688	CV3454221	single nucleotide variant	NM_015057.5(MYCBP2):c.4930A>G (p.Lys1644Glu)	Inborn genetic diseases [RCV004649610]	uncertain significance	13	77181712	77181712	Human	1	name
407504090	CV3454224	single nucleotide variant	NM_015057.5(MYCBP2):c.5858T>C (p.Ile1953Thr)	Inborn genetic diseases [RCV004645686]	uncertain significance	13	77169651	77169651	Human	1	name
407514692	CV3454225	single nucleotide variant	NM_015057.5(MYCBP2):c.4705A>C (p.Asn1569His)	Inborn genetic diseases [RCV004649612]	uncertain significance	13	77185117	77185117	Human	1	name
407504095	CV3454227	single nucleotide variant	NM_015057.5(MYCBP2):c.5887A>G (p.Ile1963Val)	Inborn genetic diseases [RCV004645688]	uncertain significance	13	77169622	77169622	Human	1	name
407504097	CV3454228	single nucleotide variant	NM_015057.5(MYCBP2):c.4975C>T (p.Arg1659Cys)	Inborn genetic diseases [RCV004645689]	uncertain significance	13	77180285	77180285	Human	1	name
407504100	CV3454229	single nucleotide variant	NM_015057.5(MYCBP2):c.9341G>A (p.Ser3114Asn)	Inborn genetic diseases [RCV004645690]	uncertain significance	13	77097813	77097813	Human	1	name
407514695	CV3454230	single nucleotide variant	NM_015057.5(MYCBP2):c.5157C>G (p.His1719Gln)	Inborn genetic diseases [RCV004649613]	uncertain significance	13	77177931	77177931	Human	1	name
407514697	CV3454231	single nucleotide variant	NM_015057.5(MYCBP2):c.6056A>G (p.His2019Arg)	Inborn genetic diseases [RCV004649614]	uncertain significance	13	77168486	77168486	Human	1	name
407514702	CV3454236	single nucleotide variant	NM_015057.5(MYCBP2):c.9329C>G (p.Ser3110Cys)	Inborn genetic diseases [RCV004649616]	uncertain significance	13	77097825	77097825	Human	1	name
407514708	CV3454240	single nucleotide variant	NM_015057.5(MYCBP2):c.9193C>T (p.His3065Tyr)	Inborn genetic diseases [RCV004649619]	uncertain significance	13	77097961	77097961	Human	1	name
407504113	CV3454243	single nucleotide variant	NM_015057.5(MYCBP2):c.6686C>T (p.Pro2229Leu)	Inborn genetic diseases [RCV004645696]	uncertain significance	13	77158021	77158021	Human	1	name
407504119	CV3454248	single nucleotide variant	NM_015057.5(MYCBP2):c.6800C>T (p.Pro2267Leu)	Inborn genetic diseases [RCV004645698]	uncertain significance	13	77156173	77156173	Human	1	name
407504121	CV3454250	single nucleotide variant	NM_015057.5(MYCBP2):c.9358G>A (p.Val3120Ile)	Inborn genetic diseases [RCV004645699]	uncertain significance	13	77097796	77097796	Human	1	name
407514770	CV3454258	single nucleotide variant	NM_032133.6(MYCBPAP):c.2468A>G (p.Glu823Gly)	not specified [RCV004649629]	uncertain significance	17	50528755	50528755	Human		name
407514774	CV3454259	single nucleotide variant	NM_032133.6(MYCBPAP):c.1702G>C (p.Val568Leu)	not specified [RCV004649630]	uncertain significance	17	50524943	50524943	Human		name
407504134	CV3454260	single nucleotide variant	NM_032133.6(MYCBPAP):c.2317G>A (p.Asp773Asn)	not specified [RCV004645703]	uncertain significance	17	50528180	50528180	Human		name
407514776	CV3454261	single nucleotide variant	NM_032133.6(MYCBPAP):c.2392G>T (p.Val798Leu)	not specified [RCV004649631]	uncertain significance	17	50528255	50528255	Human		name
408387091	CV3518690	single nucleotide variant	NM_015057.5(MYCBP2):c.8216G>T (p.Ser2739Ile)	not provided [RCV004761009]	uncertain significance	13	77098938	77098938	Human		name
408387164	CV3518727	single nucleotide variant	NM_015057.5(MYCBP2):c.8375A>G (p.His2792Arg)	not provided [RCV004761046]	uncertain significance	13	77098779	77098779	Human		name
408392842	CV3519589	single nucleotide variant	NM_015057.5(MYCBP2):c.6502G>A (p.Val2168Ile)	not provided [RCV004763885]	uncertain significance	13	77164499	77164499	Human		name
408393771	CV3519920	single nucleotide variant	NM_015057.5(MYCBP2):c.9334A>C (p.Met3112Leu)	not provided [RCV004764216]	uncertain significance	13	77097820	77097820	Human		name
408383823	CV3519996	single nucleotide variant	NM_015057.5(MYCBP2):c.7205T>C (p.Leu2402Pro)	not provided [RCV004759817]	uncertain significance	13	77144543	77144543	Human		name
408385261	CV3520092	single nucleotide variant	NM_015057.5(MYCBP2):c.6037G>A (p.Ala2013Thr)	not provided [RCV004759913]	uncertain significance	13	77168505	77168505	Human		name
408385399	CV3520177	single nucleotide variant	NM_015057.5(MYCBP2):c.9250A>G (p.Lys3084Glu)	not provided [RCV004759998]	uncertain significance	13	77097904	77097904	Human		name
408385527	CV3520217	single nucleotide variant	NM_015057.5(MYCBP2):c.7918G>C (p.Asp2640His)	not provided [RCV004760038]	uncertain significance	13	77125435	77125435	Human		name
408388584	CV3520822	single nucleotide variant	NM_015057.5(MYCBP2):c.9533C>A (p.Ala3178Asp)	not provided [RCV004761655]	uncertain significance	13	77097621	77097621	Human		name
408391088	CV3521194	single nucleotide variant	NM_015057.5(MYCBP2):c.5332G>C (p.Val1778Leu)	not provided [RCV004763016]	uncertain significance	13	77177756	77177756	Human		name
408388518	CV3522685	single nucleotide variant	NM_015057.5(MYCBP2):c.9952A>G (p.Lys3318Glu)	not provided [RCV004769066]	uncertain significance	13	77096314	77096314	Human		name
408389070	CV3522888	single nucleotide variant	NM_015057.5(MYCBP2):c.8333A>C (p.Lys2778Thr)	not provided [RCV004769269]	uncertain significance	13	77098821	77098821	Human		name
408391584	CV3523266	single nucleotide variant	NM_015057.5(MYCBP2):c.9167A>G (p.Lys3056Arg)	not provided [RCV004770639]	uncertain significance	13	77097987	77097987	Human		name
408387046	CV3524364	single nucleotide variant	NM_015057.5(MYCBP2):c.4594T>G (p.Leu1532Val)	not provided [RCV004768238]	uncertain significance	13	77185228	77185228	Human		name
408387104	CV3524395	single nucleotide variant	NM_015057.5(MYCBP2):c.4796C>T (p.Ser1599Phe)	not provided [RCV004768269]	uncertain significance	13	77181846	77181846	Human		name
408389532	CV3524602	single nucleotide variant	NM_015057.5(MYCBP2):c.5207G>A (p.Ser1736Asn)	not provided [RCV004769497]	uncertain significance	13	77177881	77177881	Human		name
408392621	CV3525302	single nucleotide variant	NM_015057.5(MYCBP2):c.5416G>A (p.Asp1806Asn)	not provided [RCV004771188]	uncertain significance	13	77176553	77176553	Human		name
408390932	CV3527805	single nucleotide variant	NM_015057.5(MYCBP2):c.4202G>A (p.Ser1401Asn)	not provided [RCV004775074]	uncertain significance	13	77189000	77189000	Human		name
408392883	CV3528235	single nucleotide variant	NM_015057.5(MYCBP2):c.4559T>C (p.Leu1520Ser)	not provided [RCV004776003]	uncertain significance	13	77185263	77185263	Human		name
408386140	CV3528806	single nucleotide variant	NM_015057.5(MYCBP2):c.8491A>G (p.Arg2831Gly)	not provided [RCV004772639]	uncertain significance	13	77098663	77098663	Human		name
596923213	CV3530299	single nucleotide variant	NM_015057.5(MYCBP2):c.5677T>G (p.Ser1893Ala)	not provided [RCV004776898]	uncertain significance	13	77171609	77171609	Human		name
596925791	CV3530582	single nucleotide variant	NM_015057.5(MYCBP2):c.5689A>G (p.Ser1897Gly)	not provided [RCV004778167]	uncertain significance	13	77171597	77171597	Human		name
596930097	CV3531355	single nucleotide variant	NM_015057.5(MYCBP2):c.4364A>G (p.Asp1455Gly)	not provided [RCV004779929]	uncertain significance	13	77185951	77185951	Human		name
596921558	CV3535180	single nucleotide variant	NM_015057.5(MYCBP2):c.3116C>G (p.Pro1039Arg)	not provided [RCV004784739]	uncertain significance	13	77212102	77212102	Human		name
596921564	CV3535186	single nucleotide variant	NM_015057.5(MYCBP2):c.5605G>A (p.Gly1869Ser)	not provided [RCV004784745]	uncertain significance	13	77174357	77174357	Human		name
596921668	CV3535290	single nucleotide variant	NM_015057.5(MYCBP2):c.9145A>G (p.Met3049Val)	not provided [RCV004784849]	uncertain significance	13	77098009	77098009	Human		name
596922375	CV3537150	single nucleotide variant	NM_015057.5(MYCBP2):c.3223C>T (p.Leu1075Phe)	not provided [RCV004786146]	uncertain significance	13	77211995	77211995	Human		name
596943591	CV3542776	single nucleotide variant	NM_015057.5(MYCBP2):c.7816T>A (p.Cys2606Ser)	not provided [RCV004798360]	uncertain significance	13	77126386	77126386	Human		name
596943502	CV3542964	single nucleotide variant	NM_015057.5(MYCBP2):c.3932C>G (p.Ala1311Gly)	not provided [RCV004798549]	uncertain significance	13	77194156	77194156	Human		name
596938516	CV3549592	single nucleotide variant	NM_015057.5(MYCBP2):c.4064A>C (p.Asp1355Ala)	not provided [RCV004812632]	uncertain significance	13	77191685	77191685	Human		name
596938795	CV3549820	single nucleotide variant	NM_015057.5(MYCBP2):c.3957T>G (p.Phe1319Leu)	not provided [RCV004812861]	uncertain significance	13	77191792	77191792	Human		name
596946278	CV3550543	single nucleotide variant	NM_015057.5(MYCBP2):c.5491G>A (p.Val1831Met)	not provided [RCV004819081]	uncertain significance	13	77174471	77174471	Human		name
596940297	CV3550872	single nucleotide variant	NM_015057.5(MYCBP2):c.5054C>T (p.Ser1685Phe)	not provided [RCV004814772]	uncertain significance	13	77180206	77180206	Human		name
597648462	CV3551723	single nucleotide variant	NM_015057.5(MYCBP2):c.4169A>T (p.Asp1390Val)	not provided [RCV004820436]	uncertain significance	13	77189033	77189033	Human		name
597631948	CV3552750	single nucleotide variant	NM_015057.5(MYCBP2):c.9466C>T (p.Leu3156Phe)	not provided [RCV004823578]	uncertain significance	13	77097688	77097688	Human		name
597701969	CV3554781	single nucleotide variant	NM_015057.5(MYCBP2):c.8483C>T (p.Pro2828Leu)	Inborn genetic diseases [RCV004956701]	uncertain significance	13	77098671	77098671	Human	1	name
597701443	CV3554783	single nucleotide variant	NM_015057.5(MYCBP2):c.7177A>G (p.Thr2393Ala)	Inborn genetic diseases [RCV004956703]	uncertain significance	13	77146172	77146172	Human	1	name
597701453	CV3554785	single nucleotide variant	NM_015057.5(MYCBP2):c.3292C>T (p.Pro1098Ser)	Inborn genetic diseases [RCV004956705]	uncertain significance	13	77211291	77211291	Human	1	name
597701461	CV3554786	single nucleotide variant	NM_015057.5(MYCBP2):c.9242A>G (p.Lys3081Arg)	Inborn genetic diseases [RCV004956706]	uncertain significance	13	77097912	77097912	Human	1	name
597701467	CV3554787	single nucleotide variant	NM_015057.5(MYCBP2):c.5365C>T (p.His1789Tyr)	Inborn genetic diseases [RCV004956707]	uncertain significance	13	77176604	77176604	Human	1	name
597701475	CV3554788	single nucleotide variant	NM_015057.5(MYCBP2):c.7072G>A (p.Val2358Ile)	Inborn genetic diseases [RCV004956708]	uncertain significance	13	77150793	77150793	Human	1	name
597701483	CV3554790	single nucleotide variant	NM_015057.5(MYCBP2):c.8569C>T (p.Pro2857Ser)	Inborn genetic diseases [RCV004956709]	uncertain significance	13	77098585	77098585	Human	1	name
597701490	CV3554791	single nucleotide variant	NM_015057.5(MYCBP2):c.8099G>A (p.Cys2700Tyr)	Inborn genetic diseases [RCV004956710]	uncertain significance	13	77121414	77121414	Human	1	name
597701510	CV3554794	single nucleotide variant	NM_015057.5(MYCBP2):c.4725C>G (p.Ile1575Met)	Inborn genetic diseases [RCV004956713]	uncertain significance	13	77181917	77181917	Human	1	name
597701513	CV3554795	single nucleotide variant	NM_015057.5(MYCBP2):c.3424C>T (p.Pro1142Ser)	Inborn genetic diseases [RCV004956714]	uncertain significance	13	77206818	77206818	Human	1	name
597701520	CV3554796	single nucleotide variant	NM_015057.5(MYCBP2):c.8713C>T (p.Pro2905Ser)	Inborn genetic diseases [RCV004956715]	uncertain significance	13	77098441	77098441	Human	1	name
597701529	CV3554797	single nucleotide variant	NM_015057.5(MYCBP2):c.4820C>T (p.Pro1607Leu)	Inborn genetic diseases [RCV004956716]	uncertain significance	13	77181822	77181822	Human	1	name
597701537	CV3554799	single nucleotide variant	NM_015057.5(MYCBP2):c.3253C>T (p.His1085Tyr)	Inborn genetic diseases [RCV004956717]	uncertain significance	13	77211965	77211965	Human	1	name
597701544	CV3554800	single nucleotide variant	NM_015057.5(MYCBP2):c.8308C>T (p.Leu2770Phe)	Inborn genetic diseases [RCV004956718]	uncertain significance	13	77098846	77098846	Human	1	name
597701552	CV3554801	single nucleotide variant	NM_015057.5(MYCBP2):c.3749C>G (p.Ser1250Ter)	Inborn genetic diseases [RCV004956719]	uncertain significance	13	77205350	77205350	Human	1	name
597709869	CV3554803	single nucleotide variant	NM_015057.5(MYCBP2):c.3256A>G (p.Ile1086Val)	Inborn genetic diseases [RCV004958900]	uncertain significance	13	77211962	77211962	Human	1	name
597709885	CV3554806	single nucleotide variant	NM_015057.5(MYCBP2):c.5833T>C (p.Phe1945Leu)	Inborn genetic diseases [RCV004958903]	uncertain significance	13	77169676	77169676	Human	1	name
597709891	CV3554807	single nucleotide variant	NM_015057.5(MYCBP2):c.7564A>G (p.Ile2522Val)	Inborn genetic diseases [RCV004958904]	uncertain significance	13	77139291	77139291	Human	1	name
597709895	CV3554808	single nucleotide variant	NM_015057.5(MYCBP2):c.7654G>C (p.Val2552Leu)	Inborn genetic diseases [RCV004958905]	uncertain significance	13	77139201	77139201	Human	1	name
597709901	CV3554810	single nucleotide variant	NM_015057.5(MYCBP2):c.3508A>G (p.Ser1170Gly)	Inborn genetic diseases [RCV004958906]	uncertain significance	13	77206734	77206734	Human	1	name
597709907	CV3554811	single nucleotide variant	NM_015057.5(MYCBP2):c.3380G>A (p.Gly1127Asp)	Inborn genetic diseases [RCV004958907]	uncertain significance	13	77211203	77211203	Human	1	name
597709941	CV3554816	single nucleotide variant	NM_015057.5(MYCBP2):c.8278G>A (p.Gly2760Ser)	Inborn genetic diseases [RCV004958912]	uncertain significance	13	77098876	77098876	Human	1	name
597709948	CV3554817	single nucleotide variant	NM_015057.5(MYCBP2):c.4502C>T (p.Thr1501Ile)	Inborn genetic diseases [RCV004958913]	uncertain significance	13	77185320	77185320	Human	1	name
597709964	CV3554820	single nucleotide variant	NM_015057.5(MYCBP2):c.3193A>G (p.Ile1065Val)	Inborn genetic diseases [RCV004958915]	uncertain significance	13	77212025	77212025	Human	1	name
597709981	CV3554823	single nucleotide variant	NM_015057.5(MYCBP2):c.4591C>T (p.Pro1531Ser)	Inborn genetic diseases [RCV004958918]	uncertain significance	13	77185231	77185231	Human	1	name
597709992	CV3554825	single nucleotide variant	NM_015057.5(MYCBP2):c.4228T>C (p.Ser1410Pro)	Inborn genetic diseases [RCV004958920]	uncertain significance	13	77188974	77188974	Human	1	name
597709996	CV3554826	single nucleotide variant	NM_015057.5(MYCBP2):c.6823A>G (p.Asn2275Asp)	Inborn genetic diseases [RCV004958921]	uncertain significance	13	77156150	77156150	Human	1	name
597710013	CV3554829	single nucleotide variant	NM_015057.5(MYCBP2):c.7488A>T (p.Lys2496Asn)	Inborn genetic diseases [RCV004958924]	uncertain significance	13	77140077	77140077	Human	1	name
597710028	CV3554833	single nucleotide variant	NM_015057.5(MYCBP2):c.5969C>T (p.Pro1990Leu)	Inborn genetic diseases [RCV004958926]	uncertain significance	13	77168573	77168573	Human	1	name
597710036	CV3554834	single nucleotide variant	NM_015057.5(MYCBP2):c.7369G>T (p.Val2457Phe)	Inborn genetic diseases [RCV004958927]	uncertain significance	13	77140878	77140878	Human	1	name
597710054	CV3554837	single nucleotide variant	NM_015057.5(MYCBP2):c.7255G>A (p.Ala2419Thr)	Inborn genetic diseases [RCV004958930]	uncertain significance	13	77144493	77144493	Human	1	name
597645628	CV3554838	single nucleotide variant	NM_032133.6(MYCBPAP):c.2744C>T (p.Thr915Ile)	not specified [RCV004826157]	uncertain significance	17	50531346	50531346	Human		name
597645660	CV3554842	single nucleotide variant	NM_032133.6(MYCBPAP):c.1177T>C (p.Ser393Pro)	not specified [RCV004826161]	likely benign	17	50522001	50522001	Human		name
597645667	CV3554843	single nucleotide variant	NM_032133.6(MYCBPAP):c.2494A>C (p.Lys832Gln)	not specified [RCV004826162]	uncertain significance	17	50528781	50528781	Human		name
597645674	CV3554844	single nucleotide variant	NM_032133.6(MYCBPAP):c.2067C>G (p.Ile689Met)	not specified [RCV004826163]	uncertain significance	17	50526165	50526165	Human		name
597645680	CV3554845	single nucleotide variant	NM_032133.6(MYCBPAP):c.2206G>T (p.Asp736Tyr)	not specified [RCV004826164]	uncertain significance	17	50527323	50527323	Human		name
597645686	CV3554846	single nucleotide variant	NM_032133.6(MYCBPAP):c.1348G>A (p.Val450Met)	not specified [RCV004826165]	uncertain significance	17	50523029	50523029	Human		name
597645699	CV3554848	single nucleotide variant	NM_032133.6(MYCBPAP):c.2813G>A (p.Arg938His)	not specified [RCV004826167]	uncertain significance	17	50531415	50531415	Human		name
597645712	CV3554850	single nucleotide variant	NM_032133.6(MYCBPAP):c.1649C>T (p.Ala550Val)	not specified [RCV004826169]	uncertain significance	17	50524890	50524890	Human		name
597646127	CV3554852	single nucleotide variant	NM_032133.6(MYCBPAP):c.1585G>A (p.Ala529Thr)	not specified [RCV004826171]	uncertain significance	17	50523734	50523734	Human		name
597646135	CV3554853	single nucleotide variant	NM_032133.6(MYCBPAP):c.1564A>G (p.Ile522Val)	not specified [RCV004826172]	likely benign	17	50523713	50523713	Human		name
597645764	CV3554857	single nucleotide variant	NM_032133.6(MYCBPAP):c.2504G>A (p.Gly835Glu)	not specified [RCV004826176]	uncertain significance	17	50528791	50528791	Human		name
597645772	CV3554858	single nucleotide variant	NM_032133.6(MYCBPAP):c.1717C>T (p.Arg573Cys)	not specified [RCV004826177]	uncertain significance	17	50524958	50524958	Human		name
597657133	CV3731646	single nucleotide variant	NM_015057.5(MYCBP2):c.8146C>T (p.Arg2716Ter)	not provided [RCV005001827]	likely pathogenic	13	77099008	77099008	Human		name
597664807	CV3732561	single nucleotide variant	NM_015057.5(MYCBP2):c.6736T>A (p.Cys2246Ser)	not provided [RCV005004030]	uncertain significance	13	77157971	77157971	Human		name
597712891	CV3732986	single nucleotide variant	NM_015057.5(MYCBP2):c.5652G>T (p.Arg1884Ser)	MYCBP2-related developmental delay with corpus callosum defects [RCV005052175]	uncertain significance	13	77171634	77171634	Human		name , trait
597719157	CV3733484	single nucleotide variant	NM_015057.5(MYCBP2):c.6754G>A (p.Gly2252Ser)	not provided [RCV005052674]	uncertain significance	13	77157953	77157953	Human		name
597833375	CV3734968	single nucleotide variant	NM_015057.5(MYCBP2):c.6521T>C (p.Met2174Thr)	not provided [RCV005054701]	uncertain significance	13	77164480	77164480	Human		name
597973098	CV3790934	single nucleotide variant	NM_015057.5(MYCBP2):c.4438G>C (p.Val1480Leu)	not provided [RCV005143149]	uncertain significance	13	77185877	77185877	Human		name
597863213	CV3813996	single nucleotide variant	NM_015057.5(MYCBP2):c.6224A>C (p.Gln2075Pro)	not provided [RCV005147065]	uncertain significance	13	77166445	77166445	Human		name
597879496	CV3826259	single nucleotide variant	NM_015057.5(MYCBP2):c.9047T>C (p.Leu3016Ser)	not provided [RCV005177955]	uncertain significance	13	77098107	77098107	Human		name
597885010	CV3834955	single nucleotide variant	NM_015057.5(MYCBP2):c.8279G>A (p.Gly2760Asp)	not provided [RCV005178679]	uncertain significance	13	77098875	77098875	Human		name
597845927	CV3880534	single nucleotide variant	NM_015057.5(MYCBP2):c.7823A>G (p.Asn2608Ser)	not provided [RCV005227422]	uncertain significance	13	77126379	77126379	Human		name
597846550	CV3880659	single nucleotide variant	NM_015057.5(MYCBP2):c.5539A>T (p.Met1847Leu)	not provided [RCV005227547]	uncertain significance	13	77174423	77174423	Human		name
598126890	CV3882349	single nucleotide variant	NM_015057.5(MYCBP2):c.6829G>A (p.Asp2277Asn)	not provided [RCV005233900]	uncertain significance	13	77156144	77156144	Human		name
598264039	CV3983159	single nucleotide variant	NM_015057.5(MYCBP2):c.6748T>A (p.Ser2250Thr)	Inborn genetic diseases [RCV005387659]	uncertain significance	13	77157959	77157959	Human	1	name
598264040	CV3983160	single nucleotide variant	NM_015057.5(MYCBP2):c.7922A>G (p.Gln2641Arg)	Inborn genetic diseases [RCV005387660]	uncertain significance	13	77125431	77125431	Human	1	name
598188466	CV3983162	single nucleotide variant	NM_015057.5(MYCBP2):c.6212T>A (p.Val2071Asp)	Inborn genetic diseases [RCV005373722]	uncertain significance	13	77166457	77166457	Human	1	name
598188478	CV3983164	single nucleotide variant	NM_015057.5(MYCBP2):c.3087T>A (p.Asp1029Glu)	Inborn genetic diseases [RCV005373724]	uncertain significance	13	77212131	77212131	Human	1	name
598188483	CV3983165	single nucleotide variant	NM_015057.5(MYCBP2):c.8222C>T (p.Ser2741Leu)	Inborn genetic diseases [RCV005373725]	uncertain significance	13	77098932	77098932	Human	1	name
598188492	CV3983169	single nucleotide variant	NM_015057.5(MYCBP2):c.9904C>A (p.Arg3302Ser)	Inborn genetic diseases [RCV005373727]	uncertain significance	13	77096362	77096362	Human	1	name
598188510	CV3983175	single nucleotide variant	NM_015057.5(MYCBP2):c.8960A>C (p.Lys2987Thr)	Inborn genetic diseases [RCV005373730]	uncertain significance	13	77098194	77098194	Human	1	name
598273341	CV3983183	single nucleotide variant	NM_015057.5(MYCBP2):c.3406G>A (p.Val1136Ile)	Inborn genetic diseases [RCV005389648]	uncertain significance	13	77211177	77211177	Human	1	name
598273344	CV3983188	single nucleotide variant	NM_015057.5(MYCBP2):c.3085G>A (p.Asp1029Asn)	Inborn genetic diseases [RCV005389649]	uncertain significance	13	77212133	77212133	Human	1	name
598188569	CV3983189	single nucleotide variant	NM_015057.5(MYCBP2):c.4391C>G (p.Thr1464Ser)	Inborn genetic diseases [RCV005373741]	uncertain significance	13	77185924	77185924	Human	1	name
598188578	CV3983192	single nucleotide variant	NM_015057.5(MYCBP2):c.8441G>T (p.Gly2814Val)	Inborn genetic diseases [RCV005373743]	uncertain significance	13	77098713	77098713	Human	1	name
598188598	CV3983197	single nucleotide variant	NM_032133.6(MYCBPAP):c.1666G>A (p.Val556Ile)	not specified [RCV005373746]	likely benign	17	50524907	50524907	Human		name
598188604	CV3983198	single nucleotide variant	NM_032133.6(MYCBPAP):c.2686C>A (p.Leu896Met)	not specified [RCV005373747]	uncertain significance	17	50529150	50529150	Human		name
598188612	CV3983199	single nucleotide variant	NM_032133.6(MYCBPAP):c.1888G>A (p.Val630Ile)	not specified [RCV005373748]	uncertain significance	17	50525986	50525986	Human		name
598188626	CV3983201	single nucleotide variant	NM_032133.6(MYCBPAP):c.1708A>G (p.Thr570Ala)	not specified [RCV005373750]	uncertain significance	17	50524949	50524949	Human		name
598273356	CV3983203	single nucleotide variant	NM_032133.6(MYCBPAP):c.1546A>C (p.Thr516Pro)	not specified [RCV005389654]	uncertain significance	17	50523695	50523695	Human		name
616939939	CV4014343	single nucleotide variant	NM_015057.5(MYCBP2):c.8786A>T (p.His2929Leu)	not provided [RCV005413837]	uncertain significance	13	77098368	77098368	Human		name
617150163	CV4017162	single nucleotide variant	NM_015057.5(MYCBP2):c.3698T>G (p.Val1233Gly)	not provided [RCV005416819]	uncertain significance	13	77205490	77205490	Human		name
617150517	CV4017643	single nucleotide variant	NM_015057.5(MYCBP2):c.5708A>G (p.Asp1903Gly)	not provided [RCV005417301]	uncertain significance	13	77171578	77171578	Human		name
617150621	CV4017686	single nucleotide variant	NM_015057.5(MYCBP2):c.5884G>A (p.Ala1962Thr)	not provided [RCV005417344]	uncertain significance	13	77169625	77169625	Human		name
617150278	CV4019191	single nucleotide variant	NM_015057.5(MYCBP2):c.9353A>G (p.Asn3118Ser)	not provided [RCV005423599]	uncertain significance	13	77097801	77097801	Human		name
617154248	CV4022661	single nucleotide variant	NM_015057.5(MYCBP2):c.8501C>T (p.Pro2834Leu)	not provided [RCV005430019]	uncertain significance	13	77098653	77098653	Human		name
15174209	CV679120	single nucleotide variant	NM_015057.5(MYCBP2):c.3498G>C (p.Gln1166His)	Esophageal atresia [RCV000984753]	uncertain significance	13	77206744	77206744	Human	1	name
15151971	CV739083	single nucleotide variant	NM_015057.5(MYCBP2):c.3455C>T (p.Ala1152Val)	not provided [RCV000901469]	benign	13	77206787	77206787	Human		name
8627471	CV82615	single nucleotide variant	NM_015057.4(MYCBP2):c.9004G>A (p.Glu3002Lys)	Malignant melanoma [RCV000062695]	not provided	13	77098150	77098150	Human		name
155802998	CV1857887	single nucleotide variant	NM_015057.5(MYCBP2):c.10142G>T (p.Gly3381Val)	not provided [RCV002461737]	uncertain significance	13	77095415	77095415	Human		name
155803649	CV1858213	single nucleotide variant	NM_015057.5(MYCBP2):c.13369C>T (p.Arg4457Ter)	not provided [RCV002462522]	uncertain significance	13	77057054	77057054	Human		name
155803890	CV1858457	single nucleotide variant	NM_015057.5(MYCBP2):c.12452C>T (p.Ser4151Phe)	not provided [RCV002462767]	uncertain significance	13	77067584	77067584	Human		name
155798000	CV1860572	single nucleotide variant	NM_015057.5(MYCBP2):c.11042G>A (p.Trp3681Ter)	not provided [RCV002467214]	uncertain significance	13	77081988	77081988	Human		name
155915012	CV2203923	single nucleotide variant	NM_015057.5(MYCBP2):c.10006C>T (p.Pro3336Ser)	Inborn genetic diseases [RCV002682003]	uncertain significance	13	77095551	77095551	Human	1	name
156336633	CV2228572	single nucleotide variant	NM_015057.5(MYCBP2):c.13690C>T (p.Arg4564Trp)	Inborn genetic diseases [RCV002718629]	uncertain significance	13	77051876	77051876	Human	1	name
156137933	CV2236546	single nucleotide variant	NM_015057.5(MYCBP2):c.10873C>A (p.Gln3625Lys)	Inborn genetic diseases [RCV002763345]	uncertain significance	13	77087486	77087486	Human	1	name
156301321	CV2248958	single nucleotide variant	NM_015057.5(MYCBP2):c.11662G>A (p.Val3888Met)	Inborn genetic diseases [RCV002808130]	uncertain significance	13	77077210	77077210	Human	1	name
155992083	CV2253423	single nucleotide variant	NM_015057.5(MYCBP2):c.12272T>C (p.Ile4091Thr)	Inborn genetic diseases [RCV002793765]	uncertain significance	13	77067764	77067764	Human	1	name
155999699	CV2296228	single nucleotide variant	NM_015057.5(MYCBP2):c.11381A>G (p.Tyr3794Cys)	Inborn genetic diseases [RCV002883158]	uncertain significance	13	77081464	77081464	Human	1	name
156278751	CV2325122	single nucleotide variant	NM_015057.5(MYCBP2):c.10549C>T (p.His3517Tyr)	Inborn genetic diseases [RCV002921577]	uncertain significance	13	77089008	77089008	Human	1	name
156217412	CV2348137	single nucleotide variant	NM_015057.5(MYCBP2):c.13501G>A (p.Val4501Ile)	Inborn genetic diseases [RCV002985903]	uncertain significance	13	77055704	77055704	Human	1	name
156169661	CV2373919	single nucleotide variant	NM_015057.5(MYCBP2):c.10662A>C (p.Glu3554Asp)	Inborn genetic diseases [RCV002698745]	uncertain significance	13	77088895	77088895	Human	1	name
155969233	CV2391552	single nucleotide variant	NM_015057.5(MYCBP2):c.12883A>G (p.Thr4295Ala)	Inborn genetic diseases [RCV002754733]	uncertain significance	13	77061682	77061682	Human	1	name
156448881	CV2402301	single nucleotide variant	NM_015057.5(MYCBP2):c.12307C>G (p.Leu4103Val)	not provided [RCV003120460]	uncertain significance	13	77067729	77067729	Human		name
329358271	CV2425175	single nucleotide variant	NM_015057.5(MYCBP2):c.13670G>A (p.Arg4557His)	Inborn genetic diseases [RCV003178896]	uncertain significance	13	77051896	77051896	Human	1	name
329402467	CV2454288	single nucleotide variant	NM_015057.5(MYCBP2):c.13247G>A (p.Ser4416Asn)	Inborn genetic diseases [RCV003199353]	likely benign	13	77058300	77058300	Human	1	name
329395496	CV2458419	single nucleotide variant	NM_015057.5(MYCBP2):c.12778A>G (p.Met4260Val)	Inborn genetic diseases [RCV003194425]	uncertain significance	13	77061787	77061787	Human	1	name
329360578	CV2458855	single nucleotide variant	NM_015057.5(MYCBP2):c.11366G>C (p.Gly3789Ala)	Inborn genetic diseases [RCV003205078]	uncertain significance	13	77081479	77081479	Human	1	name
329846426	CV2534036	single nucleotide variant	NM_015057.5(MYCBP2):c.10923T>G (p.Ile3641Met)	not provided [RCV003228242]	uncertain significance	13	77083145	77083145	Human		name
329953686	CV2668527	single nucleotide variant	NM_015057.5(MYCBP2):c.12875A>G (p.His4292Arg)	not provided [RCV003230180]	uncertain significance	13	77061690	77061690	Human		name
329952293	CV2671640	single nucleotide variant	NM_015057.5(MYCBP2):c.12776C>G (p.Pro4259Arg)	not provided [RCV003237036]	uncertain significance	13	77061789	77061789	Human		name
401726906	CV2674595	single nucleotide variant	NM_015057.5(MYCBP2):c.10592C>G (p.Ser3531Cys)	Inborn genetic diseases [RCV003269790]	uncertain significance	13	77088965	77088965	Human	1	name
401746482	CV2678849	single nucleotide variant	NM_015057.5(MYCBP2):c.11099A>G (p.His3700Arg)	Inborn genetic diseases [RCV003252579]	uncertain significance	13	77081931	77081931	Human	1	name
401758545	CV2700582	single nucleotide variant	NM_015057.5(MYCBP2):c.12313A>G (p.Ile4105Val)	Inborn genetic diseases [RCV003256471]	uncertain significance	13	77067723	77067723	Human	1	name
401779856	CV2725741	single nucleotide variant	NM_015057.5(MYCBP2):c.10477G>T (p.Ala3493Ser)	Inborn genetic diseases [RCV003287714]	uncertain significance	13	77090154	77090154	Human	1	name
401830245	CV2747971	single nucleotide variant	NM_015057.5(MYCBP2):c.11007C>A (p.Ser3669Arg)	not provided [RCV003329578]	uncertain significance	13	77083061	77083061	Human		name
401871365	CV2749535	single nucleotide variant	NM_015057.5(MYCBP2):c.11210T>C (p.Met3737Thr)	not provided [RCV003332663]	uncertain significance	13	77081635	77081635	Human		name
401898075	CV2780940	single nucleotide variant	NM_015057.5(MYCBP2):c.13501G>T (p.Val4501Phe)	Inborn genetic diseases [RCV003376250]	uncertain significance	13	77055704	77055704	Human	1	name
401882483	CV2793510	single nucleotide variant	NM_015057.5(MYCBP2):c.10162G>C (p.Val3388Leu)	Inborn genetic diseases [RCV003385733]	uncertain significance	13	77095395	77095395	Human	1	name
401901932	CV2813938	single nucleotide variant	NM_015057.5(MYCBP2):c.12596T>A (p.Ile4199Asn)	not provided [RCV003393348]	uncertain significance	13	77064691	77064691	Human		name
401916894	CV2829556	single nucleotide variant	NM_015057.5(MYCBP2):c.13060G>A (p.Glu4354Lys)	not provided [RCV003443600]	uncertain significance	13	77059603	77059603	Human		name
401917099	CV2829662	single nucleotide variant	NM_015057.5(MYCBP2):c.11506A>G (p.Ile3836Val)	not provided [RCV003443706]	uncertain significance	13	77077366	77077366	Human		name
401912885	CV2830060	single nucleotide variant	NM_015057.5(MYCBP2):c.12125A>T (p.Asp4042Val)	not provided [RCV003441274]	uncertain significance	13	77068611	77068611	Human		name
401913298	CV2830309	single nucleotide variant	NM_015057.5(MYCBP2):c.13627G>A (p.Val4543Met)	not provided [RCV003441524]	uncertain significance	13	77055578	77055578	Human		name
405752118	CV3316058	single nucleotide variant	NM_015057.5(MYCBP2):c.12467G>A (p.Arg4156Gln)	Inborn genetic diseases [RCV004453943]	uncertain significance	13	77066077	77066077	Human	1	name
405752146	CV3316062	single nucleotide variant	NM_015057.5(MYCBP2):c.12536T>C (p.Ile4179Thr)	Inborn genetic diseases [RCV004453947]	uncertain significance	13	77066008	77066008	Human	1	name
405752430	CV3316103	single nucleotide variant	NM_015057.5(MYCBP2):c.13907C>G (p.Pro4636Arg)	Inborn genetic diseases [RCV004453988]	uncertain significance	13	77051011	77051011	Human	1	name
405737286	CV3319826	single nucleotide variant	NM_015057.5(MYCBP2):c.10522A>G (p.Thr3508Ala)	Inborn genetic diseases [RCV004451837]	uncertain significance	13	77090109	77090109	Human	1	name
405737356	CV3319836	single nucleotide variant	NM_015057.5(MYCBP2):c.10552C>A (p.Pro3518Thr)	Inborn genetic diseases [RCV004451847]	uncertain significance	13	77089005	77089005	Human	1	name
405737499	CV3319857	single nucleotide variant	NM_015057.5(MYCBP2):c.10709G>A (p.Arg3570Gln)	Inborn genetic diseases [RCV004451868]	uncertain significance	13	77088848	77088848	Human	1	name
405737563	CV3319866	single nucleotide variant	NM_015057.5(MYCBP2):c.10748A>G (p.Asn3583Ser)	Inborn genetic diseases [RCV004451877]	uncertain significance	13	77087611	77087611	Human	1	name
405737642	CV3319878	single nucleotide variant	NM_015057.5(MYCBP2):c.11437A>T (p.Thr3813Ser)	Inborn genetic diseases [RCV004451889]	uncertain significance	13	77078871	77078871	Human	1	name
405737654	CV3319880	single nucleotide variant	NM_015057.5(MYCBP2):c.11507T>C (p.Ile3836Thr)	Inborn genetic diseases [RCV004451891]	uncertain significance	13	77077365	77077365	Human	1	name
405737703	CV3319886	single nucleotide variant	NM_015057.5(MYCBP2):c.11551A>G (p.Ile3851Val)	Inborn genetic diseases [RCV004451897]	uncertain significance	13	77077321	77077321	Human	1	name
405737737	CV3319891	single nucleotide variant	NM_015057.5(MYCBP2):c.11656G>A (p.Ala3886Thr)	Inborn genetic diseases [RCV004451902]	uncertain significance	13	77077216	77077216	Human	1	name
405751806	CV3319901	single nucleotide variant	NM_015057.5(MYCBP2):c.11953C>T (p.Arg3985Cys)	Inborn genetic diseases [RCV004453896]	uncertain significance	13	77068783	77068783	Human	1	name
405751980	CV3319928	single nucleotide variant	NM_015057.5(MYCBP2):c.12361C>G (p.Leu4121Val)	Inborn genetic diseases [RCV004453923]	uncertain significance	13	77067675	77067675	Human	1	name
405752022	CV3319934	single nucleotide variant	NM_015057.5(MYCBP2):c.12425C>T (p.Thr4142Ile)	Inborn genetic diseases [RCV004453929]	uncertain significance	13	77067611	77067611	Human	1	name
405752069	CV3319941	single nucleotide variant	NM_015057.5(MYCBP2):c.12437C>T (p.Pro4146Leu)	Inborn genetic diseases [RCV004453936]	uncertain significance	13	77067599	77067599	Human	1	name
407504092	CV3454226	single nucleotide variant	NM_015057.5(MYCBP2):c.11503C>T (p.His3835Tyr)	Inborn genetic diseases [RCV004645687]	uncertain significance	13	77077369	77077369	Human	1	name
407504105	CV3454234	single nucleotide variant	NM_015057.5(MYCBP2):c.13711A>G (p.Arg4571Gly)	Inborn genetic diseases [RCV004645692]	uncertain significance	13	77051855	77051855	Human	1	name
407504106	CV3454235	single nucleotide variant	NM_015057.5(MYCBP2):c.10964G>A (p.Arg3655His)	Inborn genetic diseases [RCV004645693]	uncertain significance	13	77083104	77083104	Human	1	name
407504109	CV3454239	single nucleotide variant	NM_015057.5(MYCBP2):c.13234G>A (p.Gly4412Ser)	Inborn genetic diseases [RCV004645694]	uncertain significance	13	77058313	77058313	Human	1	name
407514710	CV3454242	single nucleotide variant	NM_015057.5(MYCBP2):c.10201C>T (p.His3401Tyr)	Inborn genetic diseases [RCV004649620]	uncertain significance	13	77093331	77093331	Human	1	name
407514759	CV3454249	single nucleotide variant	NM_015057.5(MYCBP2):c.12436C>T (p.Pro4146Ser)	Inborn genetic diseases [RCV004649624]	uncertain significance	13	77067600	77067600	Human	1	name
407514763	CV3454252	single nucleotide variant	NM_015057.5(MYCBP2):c.11233A>G (p.Ile3745Val)	Inborn genetic diseases [RCV004649626]	uncertain significance	13	77081612	77081612	Human	1	name
407514765	CV3454253	single nucleotide variant	NM_015057.5(MYCBP2):c.13175C>A (p.Pro4392His)	Inborn genetic diseases [RCV004649627]	uncertain significance	13	77058372	77058372	Human	1	name
408365445	CV3499919	single nucleotide variant	NM_015057.5(MYCBP2):c.11855T>C (p.Met3952Thr)	not provided [RCV004721961]	likely pathogenic	13	77070680	77070680	Human		name
408365465	CV3499939	single nucleotide variant	NM_015057.5(MYCBP2):c.13669C>T (p.Arg4557Cys)	not provided [RCV004721981]	pathogenic	13	77051897	77051897	Human		name
408387191	CV3518741	single nucleotide variant	NM_015057.5(MYCBP2):c.12134C>T (p.Ser4045Leu)	not provided [RCV004761060]	uncertain significance	13	77068602	77068602	Human		name
408385490	CV3520199	single nucleotide variant	NM_015057.5(MYCBP2):c.11861G>A (p.Gly3954Glu)	not provided [RCV004760020]	uncertain significance	13	77070674	77070674	Human		name
408387846	CV3520511	single nucleotide variant	NM_015057.5(MYCBP2):c.11408G>A (p.Arg3803Gln)	not provided [RCV004761343]	uncertain significance	13	77081437	77081437	Human		name
408390736	CV3520990	single nucleotide variant	NM_015057.5(MYCBP2):c.11368A>G (p.Ile3790Val)	not provided [RCV004762812]	uncertain significance	13	77081477	77081477	Human		name
408388830	CV3522792	single nucleotide variant	NM_015057.5(MYCBP2):c.10012A>C (p.Met3338Leu)	not provided [RCV004769173]	uncertain significance	13	77095545	77095545	Human		name
408392097	CV3525070	single nucleotide variant	NM_015057.5(MYCBP2):c.12520A>G (p.Ile4174Val)	not provided [RCV004770956]	uncertain significance	13	77066024	77066024	Human		name
408381731	CV3526582	single nucleotide variant	NM_015057.5(MYCBP2):c.13597G>T (p.Gly4533Cys)	not provided [RCV004771895]	uncertain significance	13	77055608	77055608	Human		name
408381976	CV3526662	single nucleotide variant	NM_015057.5(MYCBP2):c.11896C>G (p.Gln3966Glu)	not provided [RCV004771975]	uncertain significance	13	77070639	77070639	Human		name
408387930	CV3527274	single nucleotide variant	NM_015057.5(MYCBP2):c.12463C>T (p.Arg4155Ter)	not provided [RCV004773576]	pathogenic	13	77066081	77066081	Human		name
408393430	CV3528468	single nucleotide variant	NM_015057.5(MYCBP2):c.10336C>T (p.Pro3446Ser)	not provided [RCV004776236]	uncertain significance	13	77093196	77093196	Human		name
408385462	CV3528518	single nucleotide variant	NM_015057.5(MYCBP2):c.11449G>T (p.Gly3817Cys)	not provided [RCV004772350]	uncertain significance	13	77078859	77078859	Human		name
408385526	CV3528551	single nucleotide variant	NM_015057.5(MYCBP2):c.11371A>G (p.Asn3791Asp)	not provided [RCV004772383]	uncertain significance	13	77081474	77081474	Human		name
408386237	CV3528835	single nucleotide variant	NM_015057.5(MYCBP2):c.12329T>C (p.Leu4110Pro)	not provided [RCV004772668]	uncertain significance	13	77067707	77067707	Human		name
596926535	CV3530831	single nucleotide variant	NM_015057.5(MYCBP2):c.10496C>G (p.Pro3499Arg)	not provided [RCV004778416]	uncertain significance	13	77090135	77090135	Human		name
596924575	CV3532313	single nucleotide variant	NM_015057.5(MYCBP2):c.11498C>G (p.Ser3833Cys)	not provided [RCV004777424]	uncertain significance	13	77077374	77077374	Human		name
596928589	CV3540467	single nucleotide variant	NM_015057.5(MYCBP2):c.11288G>A (p.Gly3763Asp)	not provided [RCV004794794]	uncertain significance	13	77081557	77081557	Human		name
597649995	CV3551853	single nucleotide variant	NM_015057.5(MYCBP2):c.12649G>C (p.Val4217Leu)	not provided [RCV004820566]	uncertain significance	13	77064638	77064638	Human		name
597701411	CV3554777	single nucleotide variant	NM_015057.5(MYCBP2):c.12618G>C (p.Leu4206Phe)	Inborn genetic diseases [RCV004956698]	uncertain significance	13	77064669	77064669	Human	1	name
597701449	CV3554784	single nucleotide variant	NM_015057.5(MYCBP2):c.10610G>A (p.Arg3537Gln)	Inborn genetic diseases [RCV004956704]	uncertain significance	13	77088947	77088947	Human	1	name
597701495	CV3554792	single nucleotide variant	NM_015057.5(MYCBP2):c.11434A>G (p.Met3812Val)	Inborn genetic diseases [RCV004956711]	uncertain significance	13	77078874	77078874	Human	1	name
597701503	CV3554793	single nucleotide variant	NM_015057.5(MYCBP2):c.13504A>G (p.Arg4502Gly)	Inborn genetic diseases [RCV004956712]	uncertain significance	13	77055701	77055701	Human	1	name
597709863	CV3554802	single nucleotide variant	NM_015057.5(MYCBP2):c.12310G>C (p.Gly4104Arg)	Inborn genetic diseases [RCV004958899]	uncertain significance	13	77067726	77067726	Human	1	name
597709873	CV3554804	single nucleotide variant	NM_015057.5(MYCBP2):c.11932C>T (p.Arg3978Cys)	Inborn genetic diseases [RCV004958901]	uncertain significance	13	77068804	77068804	Human	1	name
597709923	CV3554813	single nucleotide variant	NM_015057.5(MYCBP2):c.13310C>T (p.Ser4437Leu)	Inborn genetic diseases [RCV004958909]	uncertain significance	13	77058237	77058237	Human	1	name
597709929	CV3554814	single nucleotide variant	NM_015057.5(MYCBP2):c.10043C>T (p.Ala3348Val)	Inborn genetic diseases [RCV004958910]	uncertain significance	13	77095514	77095514	Human	1	name
597709957	CV3554818	single nucleotide variant	NM_015057.5(MYCBP2):c.10733A>C (p.Asn3578Thr)	Inborn genetic diseases [RCV004958914]	uncertain significance	13	77087626	77087626	Human	1	name
597709976	CV3554822	single nucleotide variant	NM_015057.5(MYCBP2):c.13069C>T (p.Arg4357Cys)	Inborn genetic diseases [RCV004958917]	uncertain significance	13	77059594	77059594	Human	1	name
597709987	CV3554824	single nucleotide variant	NM_015057.5(MYCBP2):c.10398T>A (p.Asp3466Glu)	Inborn genetic diseases [RCV004958919]	uncertain significance	13	77090233	77090233	Human	1	name
597710006	CV3554828	single nucleotide variant	NM_015057.5(MYCBP2):c.11455G>A (p.Ala3819Thr)	Inborn genetic diseases [RCV004958923]	uncertain significance	13	77078853	77078853	Human	1	name
597710044	CV3554835	single nucleotide variant	NM_015057.5(MYCBP2):c.10528G>A (p.Val3510Ile)	Inborn genetic diseases [RCV004958928]	uncertain significance	13	77089029	77089029	Human	1	name
597710047	CV3554836	single nucleotide variant	NM_015057.5(MYCBP2):c.10522A>T (p.Thr3508Ser)	Inborn genetic diseases [RCV004958929]	uncertain significance	13	77090109	77090109	Human	1	name
597656138	CV3731546	single nucleotide variant	NM_015057.5(MYCBP2):c.10444T>C (p.Ser3482Pro)	not provided [RCV005001727]	uncertain significance	13	77090187	77090187	Human		name
597657471	CV3731681	single nucleotide variant	NM_015057.5(MYCBP2):c.12211C>T (p.Pro4071Ser)	not provided [RCV005001862]	uncertain significance	13	77067825	77067825	Human		name
597665002	CV3732580	single nucleotide variant	NM_015057.5(MYCBP2):c.11383G>A (p.Val3795Met)	not provided [RCV005004049]	uncertain significance	13	77081462	77081462	Human		name
597716826	CV3733296	single nucleotide variant	NM_015057.5(MYCBP2):c.13889T>C (p.Ile4630Thr)	not provided [RCV005052486]	uncertain significance	13	77051029	77051029	Human		name
597834342	CV3735836	single nucleotide variant	NM_015057.5(MYCBP2):c.12259G>A (p.Asp4087Asn)	not provided [RCV005063699]	uncertain significance	13	77067777	77067777	Human		name
597935045	CV3863599	single nucleotide variant	NM_015057.5(MYCBP2):c.12100G>T (p.Ala4034Ser)	not provided [RCV005207412]	uncertain significance	13	77068636	77068636	Human		name
597935634	CV3863766	single nucleotide variant	NM_015057.5(MYCBP2):c.11588G>A (p.Arg3863Lys)	not provided [RCV005207579]	uncertain significance	13	77077284	77077284	Human		name
597844940	CV3880334	single nucleotide variant	NM_015057.5(MYCBP2):c.10936G>A (p.Ala3646Thr)	not provided [RCV005227222]	uncertain significance	13	77083132	77083132	Human		name
598126185	CV3886122	single nucleotide variant	NM_015057.5(MYCBP2):c.11308G>A (p.Glu3770Lys)	not provided [RCV005241925]	uncertain significance	13	77081537	77081537	Human		name
598234666	CV3893590	single nucleotide variant	NM_015057.5(MYCBP2):c.13360T>G (p.Cys4454Gly)	not provided [RCV005256323]	uncertain significance	13	77057063	77057063	Human		name
598159864	CV3897174	single nucleotide variant	NM_015057.5(MYCBP2):c.13483A>G (p.Lys4495Glu)	not provided [RCV005368148]	uncertain significance	13	77055722	77055722	Human		name
598188444	CV3983155	single nucleotide variant	NM_015057.5(MYCBP2):c.13250C>T (p.Ala4417Val)	Inborn genetic diseases [RCV005373718]	uncertain significance	13	77058297	77058297	Human	1	name
598188451	CV3983156	single nucleotide variant	NM_015057.5(MYCBP2):c.13345A>C (p.Ile4449Leu)	Inborn genetic diseases [RCV005373719]	uncertain significance	13	77057078	77057078	Human	1	name
598188454	CV3983157	single nucleotide variant	NM_015057.5(MYCBP2):c.10238A>G (p.Asn3413Ser)	Inborn genetic diseases [RCV005373720]	uncertain significance	13	77093294	77093294	Human	1	name
598188459	CV3983158	single nucleotide variant	NM_015057.5(MYCBP2):c.13049C>T (p.Thr4350Met)	Inborn genetic diseases [RCV005373721]	uncertain significance	13	77059614	77059614	Human	1	name
598264045	CV3983166	single nucleotide variant	NM_015057.5(MYCBP2):c.12442A>G (p.Ile4148Val)	Inborn genetic diseases [RCV005387662]	uncertain significance	13	77067594	77067594	Human	1	name
598188487	CV3983167	single nucleotide variant	NM_015057.5(MYCBP2):c.10012A>G (p.Met3338Val)	Inborn genetic diseases [RCV005373726]	uncertain significance	13	77095545	77095545	Human	1	name
598264048	CV3983168	single nucleotide variant	NM_015057.5(MYCBP2):c.12234A>G (p.Ile4078Met)	Inborn genetic diseases [RCV005387663]	uncertain significance	13	77067802	77067802	Human	1	name
598188504	CV3983174	single nucleotide variant	NM_015057.5(MYCBP2):c.10856G>A (p.Ser3619Asn)	Inborn genetic diseases [RCV005373729]	likely benign	13	77087503	77087503	Human	1	name
598188515	CV3983176	single nucleotide variant	NM_015057.5(MYCBP2):c.10209T>G (p.His3403Gln)	Inborn genetic diseases [RCV005373731]	uncertain significance	13	77093323	77093323	Human	1	name
598188521	CV3983177	single nucleotide variant	NM_015057.5(MYCBP2):c.13700A>G (p.Asp4567Gly)	Inborn genetic diseases [RCV005373732]	uncertain significance	13	77051866	77051866	Human	1	name
598188542	CV3983182	single nucleotide variant	NM_015057.5(MYCBP2):c.11350A>T (p.Ile3784Phe)	Inborn genetic diseases [RCV005373736]	uncertain significance	13	77081495	77081495	Human	1	name
598188559	CV3983186	single nucleotide variant	NM_015057.5(MYCBP2):c.11818T>C (p.Tyr3940His)	Inborn genetic diseases [RCV005373739]	uncertain significance	13	77076756	77076756	Human	1	name
598188564	CV3983187	single nucleotide variant	NM_015057.5(MYCBP2):c.10468A>C (p.Ile3490Leu)	Inborn genetic diseases [RCV005373740]	uncertain significance	13	77090163	77090163	Human	1	name
598273345	CV3983190	single nucleotide variant	NM_015057.5(MYCBP2):c.10934C>G (p.Ala3645Gly)	Inborn genetic diseases [RCV005389650]	uncertain significance	13	77083134	77083134	Human	1	name
598188572	CV3983191	single nucleotide variant	NM_015057.5(MYCBP2):c.13583A>G (p.Tyr4528Cys)	Inborn genetic diseases [RCV005373742]	uncertain significance	13	77055622	77055622	Human	1	name
598273348	CV3983193	single nucleotide variant	NM_015057.5(MYCBP2):c.10262A>G (p.Tyr3421Cys)	Inborn genetic diseases [RCV005389651]	uncertain significance	13	77093270	77093270	Human	1	name
616938443	CV4012932	single nucleotide variant	NM_015057.5(MYCBP2):c.12513C>G (p.Ile4171Met)	not provided [RCV005410397]	uncertain significance	13	77066031	77066031	Human		name
616939055	CV4015382	single nucleotide variant	NM_015057.5(MYCBP2):c.13528G>T (p.Glu4510Ter)	not provided [RCV005412893]	pathogenic	13	77055677	77055677	Human		name
617150511	CV4017640	single nucleotide variant	NM_015057.5(MYCBP2):c.10610G>T (p.Arg3537Leu)	not provided [RCV005417298]	uncertain significance	13	77088947	77088947	Human		name
617150551	CV4018942	single nucleotide variant	NM_015057.5(MYCBP2):c.13318C>G (p.Pro4440Ala)	not provided [RCV005423350]	uncertain significance	13	77058229	77058229	Human		name
617154135	CV4022298	single nucleotide variant	NM_015057.5(MYCBP2):c.10160C>A (p.Pro3387His)	not provided [RCV005429654]	uncertain significance	13	77095397	77095397	Human		name
617154315	CV4022710	single nucleotide variant	NM_015057.5(MYCBP2):c.11069A>G (p.His3690Arg)	not provided [RCV005430068]	uncertain significance	13	77081961	77081961	Human		name
8689376	CV97464	single nucleotide variant	NM_015057.5(MYCBP2):c.13840A>G (p.Thr4614Ala)	not provided [RCV000122543]	uncertain significance	13	77051078	77051078	Human		name
401723684	CV2737868	microsatellite	NM_015057.5(MYCBP2):c.147GGGGCT[2] (p.50GL[2])	not provided [RCV003315040]	uncertain significance	13	77326612	77326617	Human		name
329847983	CV2667602	microsatellite	NM_015057.5(MYCBP2):c.5853TAT[1] (p.Ile1953del)	not provided [RCV003229169]	uncertain significance	13	77169651	77169653	Human		name
401916299	CV2831031	microsatellite	NM_015057.5(MYCBP2):c.6558AGA[2] (p.Glu2188del)	not provided [RCV003443300]	uncertain significance	13	77161937	77161939	Human		name
408381824	CV3526612	microsatellite	NM_015057.5(MYCBP2):c.3949ATG[1] (p.Met1318del)	not provided [RCV004771925]	uncertain significance	13	77191795	77191797	Human		name
329848177	CV2667796	duplication	NM_015057.5(MYCBP2):c.3476_3479dup (p.Ala1162fs)	not provided [RCV003229363]	uncertain significance	13	77206762	77206763	Human		name
407504101	CV3454232	microsatellite	NM_015057.5(MYCBP2):c.9635_9641dup (p.Ala3215fs)	Inborn genetic diseases [RCV004645691]	uncertain significance	13	77097512	77097513	Human		name
597714525	CV3733118	deletion	NM_015057.5(MYCBP2):c.1370_1372del (p.Glu457del)	MYCBP2-related developmental delay with corpus callosum defects [RCV005052307]	uncertain significance	13	77263988	77263990	Human		name , trait
598122311	CV3889793	deletion	NM_015057.5(MYCBP2):c.3983_3984del (p.Gly1328fs)	MYCBP2-associated neurodevelopmental disorder [RCV005247896]	pathogenic	13	77191765	77191766	Human		name , trait
13610576	CV513886	deletion	NM_015057.5(MYCBP2):c.5906_5910del (p.Glu1969fs)	not provided [RCV000626489]	uncertain significance	13	77168632	77168636	Human		name
616936182	CV4016230	insertion	NM_015057.5(MYCBP2):c.8867_8868insG (p.Phe2957fs)	not provided [RCV005415096]	likely pathogenic	13	77098286	77098287	Human		name
329953680	CV2668525	deletion	NM_015057.5(MYCBP2):c.13827_13828del (p.Phe4609fs)	not provided [RCV003230178]	uncertain significance	13	77051090	77051091	Human		name
407514704	CV3454237	deletion	NM_015057.5(MYCBP2):c.2047del (p.Phe682_Val683insTer)	Inborn genetic diseases [RCV004649617]	uncertain significance	13	77257800	77257800	Human	1	name
616937781	CV4013010	deletion	NM_015057.5(MYCBP2):c.5361_5369del (p.Thr1788_Ser1790del)	not provided [RCV005410476]	uncertain significance	13	77176600	77176608	Human		name
616935794	CV4015975	deletion	NM_015057.5(MYCBP2):c.10830_10838del (p.Glu3610_Glu3612del)	not provided [RCV005414839]	uncertain significance	13	77087521	77087529	Human		name

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