Cep57 Variant Search Result - Rat Genome Database

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650 records found for search term Cep57

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
151866674	CV1446465	single nucleotide variant	NM_014679.5(CEP57):c.45+5G>A	Mosaic variegated aneuploidy syndrome 2 [RCV001980799]	uncertain significance	11	95790748	95790748	Human	1	name
152030562	CV1660622	single nucleotide variant	NM_014679.5(CEP57):c.46-9A>T	Mosaic variegated aneuploidy syndrome 2 [RCV002105951]	likely benign	11	95799223	95799223	Human	1	name
156043107	CV1887269	single nucleotide variant	NM_014679.5(CEP57):c.46-2A>T	Mosaic variegated aneuploidy syndrome 2 [RCV003078596]	likely pathogenic	11	95799230	95799230	Human	1	name
597975147	CV3798766	single nucleotide variant	NM_014679.5(CEP57):c.45+4A>G	Mosaic variegated aneuploidy syndrome 2 [RCV005144355]	uncertain significance	11	95790747	95790747	Human	1	name
15184195	CV778008	single nucleotide variant	NM_014679.5(CEP57):c.46-8T>A	Mosaic variegated aneuploidy syndrome 2 [RCV001422428]	likely benign	11	95799224	95799224	Human	1	name
15108327	CV787729	single nucleotide variant	NM_014679.5(CEP57):c.46-9A>C	Mosaic variegated aneuploidy syndrome 2 [RCV001464532]	likely benign	11	95799223	95799223	Human	1	name
126914865	CV1047609	single nucleotide variant	NM_014679.5(CEP57):c.202+6C>T	Mosaic variegated aneuploidy syndrome 2 [RCV001370620]	uncertain significance	11	95799394	95799394	Human	1	name
127272124	CV1100721	single nucleotide variant	NM_014679.5(CEP57):c.46-10T>C	Mosaic variegated aneuploidy syndrome 2 [RCV001442052]	likely benign	11	95799222	95799222	Human	1	name
127304374	CV1122175	single nucleotide variant	NM_014679.5(CEP57):c.700-4C>T	Mosaic variegated aneuploidy syndrome 2 [RCV001462208]	likely benign	11	95821867	95821867	Human	1	name
151746278	CV1374791	single nucleotide variant	NM_014679.5(CEP57):c.621+9A>G	Mosaic variegated aneuploidy syndrome 2 [RCV001947627]	uncertain significance	11	95817912	95817912	Human	1	name
151808624	CV1407175	single nucleotide variant	NM_014679.5(CEP57):c.504+5G>A	Mosaic variegated aneuploidy syndrome 2 [RCV002048642]	uncertain significance	11	95813594	95813594	Human	1	name
151784517	CV1474626	single nucleotide variant	NM_014679.5(CEP57):c.45+16C>T	Mosaic variegated aneuploidy syndrome 2 [RCV001930760]	likely benign\|uncertain significance	11	95790759	95790759	Human	1	name
152078569	CV1602144	single nucleotide variant	NM_014679.5(CEP57):c.886-7C>A	Mosaic variegated aneuploidy syndrome 2 [RCV002149008]	likely benign	11	95827779	95827779	Human	1	name
152157319	CV1615900	duplication	NM_014679.5(CEP57):c.622-9dup	Mosaic variegated aneuploidy syndrome 2 [RCV002159009]	benign	11	95818813	95818814	Human	1	name
152142308	CV1636382	single nucleotide variant	NM_014679.5(CEP57):c.46-11T>C	Mosaic variegated aneuploidy syndrome 2 [RCV002120541]	likely benign	11	95799221	95799221	Human	1	name
156328375	CV1881068	single nucleotide variant	NM_014679.5(CEP57):c.621+8C>T	Mosaic variegated aneuploidy syndrome 2 [RCV003063545]	uncertain significance	11	95817911	95817911	Human	1	name
156076266	CV1886341	single nucleotide variant	NM_014679.5(CEP57):c.382+6T>C	Mosaic variegated aneuploidy syndrome 2 [RCV003079715]	uncertain significance	11	95813117	95813117	Human	1	name
156418483	CV1922219	duplication	NM_014679.5(CEP57):c.46-10dup	Mosaic variegated aneuploidy syndrome 2 [RCV002611679]	likely benign	11	95799219	95799220	Human	1	name
156219391	CV2084637	single nucleotide variant	NM_014679.5(CEP57):c.504+6T>G	Mosaic variegated aneuploidy syndrome 2 [RCV002853151]	uncertain significance	11	95813595	95813595	Human	1	name
156185396	CV2086522	single nucleotide variant	NM_014679.5(CEP57):c.886-7C>T	Mosaic variegated aneuploidy syndrome 2 [RCV002851966]	likely benign	11	95827779	95827779	Human	1	name
156148693	CV2131097	single nucleotide variant	NM_014679.5(CEP57):c.45+17G>C	Mosaic variegated aneuploidy syndrome 2 [RCV002982573]	likely benign	11	95790760	95790760	Human	1	name
155933318	CV2142360	single nucleotide variant	NM_014679.5(CEP57):c.504+3A>G	Mosaic variegated aneuploidy syndrome 2 [RCV002993540]	uncertain significance	11	95813592	95813592	Human	1	name
11346566	CV241216	single nucleotide variant	NM_014679.5(CEP57):c.807+3G>A	Mosaic variegated aneuploidy syndrome 2 [RCV000228983]\|not provided [RCV004706680]	benign	11	95821981	95821981	Human	1	name
405197151	CV2990153	single nucleotide variant	NM_014679.5(CEP57):c.622-2A>G	Mosaic variegated aneuploidy syndrome 2 [RCV003641647]	likely pathogenic	11	95818825	95818825	Human	1	name
405188561	CV3018117	single nucleotide variant	NM_014679.5(CEP57):c.504+4A>G	Mosaic variegated aneuploidy syndrome 2 [RCV003640531]	uncertain significance	11	95813593	95813593	Human	1	name
405190826	CV3043495	single nucleotide variant	NM_014679.5(CEP57):c.699+1G>T	Mosaic variegated aneuploidy syndrome 2 [RCV003640818]	likely pathogenic	11	95818905	95818905	Human	1	name
405199378	CV3046125	deletion	NM_014679.5(CEP57):c.382+9del	Mosaic variegated aneuploidy syndrome 2 [RCV003641968]	likely benign	11	95813120	95813120	Human	1	name
405199674	CV3059988	single nucleotide variant	NM_014679.5(CEP57):c.699+7T>C	Mosaic variegated aneuploidy syndrome 2 [RCV003642006]	likely benign	11	95818911	95818911	Human	1	name
405226554	CV3169440	single nucleotide variant	NM_014679.5(CEP57):c.45+17G>A	Mosaic variegated aneuploidy syndrome 2 [RCV003864464]	likely benign	11	95790760	95790760	Human	1	name
597920434	CV3781252	single nucleotide variant	NM_014679.5(CEP57):c.505-6T>C	Mosaic variegated aneuploidy syndrome 2 [RCV005130134]	uncertain significance	11	95817781	95817781	Human	1	name
597973500	CV3820515	single nucleotide variant	NM_014679.5(CEP57):c.808-9T>C	Mosaic variegated aneuploidy syndrome 2 [RCV005168032]	likely benign	11	95822490	95822490	Human	1	name
597934528	CV3845090	single nucleotide variant	NM_014679.5(CEP57):c.202+5T>C	Mosaic variegated aneuploidy syndrome 2 [RCV005186403]	uncertain significance	11	95799393	95799393	Human	1	name
12881944	CV398398	single nucleotide variant	NM_014679.5(CEP57):c.807+8G>A	CEP57-related disorder [RCV003942541]\|Mosaic variegated aneuploidy syndrome 2 [RCV000458740]\|not provided [RCV004584721]	benign\|likely benign	11	95821986	95821986	Human	1	name , trait , alternate_id
15124987	CV685295	single nucleotide variant	NM_014679.5(CEP57):c.808-6A>G	Mosaic variegated aneuploidy syndrome 2 [RCV000862508]	likely benign	11	95822493	95822493	Human	1	name
15098392	CV690015	single nucleotide variant	NM_014679.5(CEP57):c.621+7G>T	Mosaic variegated aneuploidy syndrome 2 [RCV001479465]	likely benign	11	95817910	95817910	Human	1	name
26918038	CV851468	single nucleotide variant	NM_014679.5(CEP57):c.382+4T>C	Mosaic variegated aneuploidy syndrome 2 [RCV001057492]	uncertain significance	11	95813115	95813115	Human	1	name
39456636	CV965927	single nucleotide variant	NM_014679.5(CEP57):c.382+2T>C	Mosaic variegated aneuploidy syndrome 2 [RCV001255701]	pathogenic	11	95813113	95813113	Human	1	name
151777192	CV1450170	single nucleotide variant	NM_014679.5(CEP57):c.1127+3G>A	Mosaic variegated aneuploidy syndrome 2 [RCV001864629]	uncertain significance	11	95828030	95828030	Human	1	name
151814205	CV1492197	single nucleotide variant	NM_014679.5(CEP57):c.885+19G>A	Mosaic variegated aneuploidy syndrome 2 [RCV002029268]	likely benign\|uncertain significance	11	95822595	95822595	Human	1	name
152159701	CV1522694	single nucleotide variant	NM_014679.5(CEP57):c.504+19A>C	Mosaic variegated aneuploidy syndrome 2 [RCV002140705]	likely benign	11	95813608	95813608	Human	1	name
152075498	CV1528147	single nucleotide variant	NM_014679.5(CEP57):c.1128-4A>G	Mosaic variegated aneuploidy syndrome 2 [RCV002112044]	likely benign	11	95829183	95829183	Human	1	name
152044059	CV1584157	single nucleotide variant	NM_014679.5(CEP57):c.885+18C>T	Mosaic variegated aneuploidy syndrome 2 [RCV002071386]	likely benign	11	95822594	95822594	Human	1	name
152094758	CV1599362	single nucleotide variant	NM_014679.5(CEP57):c.383-11A>T	Mosaic variegated aneuploidy syndrome 2 [RCV002094686]	likely benign	11	95813457	95813457	Human	1	name
152105930	CV1609565	single nucleotide variant	NM_014679.5(CEP57):c.382+20T>G	Mosaic variegated aneuploidy syndrome 2 [RCV002115933]	benign	11	95813131	95813131	Human	1	name
152116338	CV1645658	single nucleotide variant	NM_014679.5(CEP57):c.1128-4A>C	Mosaic variegated aneuploidy syndrome 2 [RCV002174977]	likely benign	11	95829183	95829183	Human	1	name
155956322	CV1876789	single nucleotide variant	NM_014679.5(CEP57):c.203-15G>A	Mosaic variegated aneuploidy syndrome 2 [RCV003074433]	likely benign	11	95812917	95812917	Human	1	name
156294348	CV1884084	single nucleotide variant	NM_014679.5(CEP57):c.622-12T>C	Mosaic variegated aneuploidy syndrome 2 [RCV003087625]	likely benign	11	95818815	95818815	Human	1	name
156216462	CV1910642	single nucleotide variant	NM_014679.5(CEP57):c.202+16G>A	Mosaic variegated aneuploidy syndrome 2 [RCV002596283]	likely benign	11	95799404	95799404	Human	1	name
155935996	CV1916971	single nucleotide variant	NM_014679.5(CEP57):c.621+13G>A	Mosaic variegated aneuploidy syndrome 2 [RCV002615310]	uncertain significance	11	95817916	95817916	Human	1	name
155937470	CV2125812	single nucleotide variant	NM_014679.5(CEP57):c.383-15A>G	Mosaic variegated aneuploidy syndrome 2 [RCV002971052]	likely benign	11	95813453	95813453	Human	1	name
156336993	CV2190044	single nucleotide variant	NM_014679.5(CEP57):c.807+16C>A	Mosaic variegated aneuploidy syndrome 2 [RCV003064022]	likely benign	11	95821994	95821994	Human	1	name
405028846	CV2882078	single nucleotide variant	NM_014679.5(CEP57):c.382+14G>T	Mosaic variegated aneuploidy syndrome 2 [RCV003529245]	likely benign	11	95813125	95813125	Human	1	name
405187623	CV3005982	single nucleotide variant	NM_014679.5(CEP57):c.202+17A>C	Mosaic variegated aneuploidy syndrome 2 [RCV003640420]	likely benign	11	95799405	95799405	Human	1	name
405198790	CV3054441	single nucleotide variant	NM_014679.5(CEP57):c.700-19A>C	Mosaic variegated aneuploidy syndrome 2 [RCV003641889]	likely benign	11	95821852	95821852	Human	1	name
405202393	CV3074615	single nucleotide variant	NM_014679.5(CEP57):c.1127+5G>A	Mosaic variegated aneuploidy syndrome 2 [RCV003642341]	uncertain significance	11	95828032	95828032	Human	1	name
405014013	CV3138848	single nucleotide variant	NM_014679.5(CEP57):c.383-10T>C	Mosaic variegated aneuploidy syndrome 2 [RCV003829185]	likely benign	11	95813458	95813458	Human	1	name
405289788	CV3218863	single nucleotide variant	NM_014679.5(CEP57):c.1273-9T>G	CEP57-related disorder [RCV003962008]	likely benign	11	95831017	95831017	Human		name , trait , alternate_id
597851707	CV3747039	single nucleotide variant	NM_014679.5(CEP57):c.505-19A>G	Mosaic variegated aneuploidy syndrome 2 [RCV005060667]	likely benign	11	95817768	95817768	Human	1	name
597964278	CV3792194	single nucleotide variant	NM_014679.5(CEP57):c.622-10T>A	Mosaic variegated aneuploidy syndrome 2 [RCV005139752]	likely benign	11	95818817	95818817	Human	1	name
597954395	CV3795774	single nucleotide variant	NM_014679.5(CEP57):c.885+13A>G	Mosaic variegated aneuploidy syndrome 2 [RCV005136784]	likely benign	11	95822589	95822589	Human	1	name
597970179	CV3801884	single nucleotide variant	NM_014679.5(CEP57):c.382+19T>G	Mosaic variegated aneuploidy syndrome 2 [RCV005141676]	likely benign	11	95813130	95813130	Human	1	name
597912776	CV3817326	single nucleotide variant	NM_014679.5(CEP57):c.383-14T>C	Mosaic variegated aneuploidy syndrome 2 [RCV005154528]	likely benign	11	95813454	95813454	Human	1	name
597904160	CV3856220	single nucleotide variant	NM_014679.5(CEP57):c.383-13G>A	Mosaic variegated aneuploidy syndrome 2 [RCV005202448]	likely benign	11	95813455	95813455	Human	1	name
597923555	CV3862993	single nucleotide variant	NM_014679.5(CEP57):c.505-11T>C	Mosaic variegated aneuploidy syndrome 2 [RCV005205481]	likely benign	11	95817776	95817776	Human	1	name
14719196	CV652248	single nucleotide variant	NM_014679.5(CEP57):c.1272+4A>C	Mosaic variegated aneuploidy syndrome 2 [RCV000812499]	uncertain significance	11	95829335	95829335	Human	1	name
26899274	CV852648	single nucleotide variant	NM_014679.5(CEP57):c.1273-7G>A	Mosaic variegated aneuploidy syndrome 2 [RCV001034951]	uncertain significance	11	95831019	95831019	Human	1	name
127333444	CV1122180	single nucleotide variant	NM_014679.5(CEP57):c.1272+10T>C	Mosaic variegated aneuploidy syndrome 2 [RCV001472947]	likely benign	11	95829341	95829341	Human	1	name
152027804	CV1521048	single nucleotide variant	NM_014679.5(CEP57):c.1128-10T>C	Mosaic variegated aneuploidy syndrome 2 [RCV002085251]	likely benign	11	95829177	95829177	Human	1	name
152086501	CV1589789	single nucleotide variant	NM_014679.5(CEP57):c.1273-14G>A	Mosaic variegated aneuploidy syndrome 2 [RCV002193703]	likely benign	11	95831012	95831012	Human	1	name
152138617	CV1645278	single nucleotide variant	NM_014679.5(CEP57):c.1272+12T>G	Mosaic variegated aneuploidy syndrome 2 [RCV002137886]	likely benign	11	95829343	95829343	Human	1	name
156355156	CV1894757	single nucleotide variant	NM_014679.5(CEP57):c.1272+13T>G	Mosaic variegated aneuploidy syndrome 2 [RCV003091289]	likely benign	11	95829344	95829344	Human	1	name
156366702	CV1906522	single nucleotide variant	NM_014679.5(CEP57):c.1128-19A>G	Mosaic variegated aneuploidy syndrome 2 [RCV003092111]	likely benign	11	95829168	95829168	Human	1	name
156224837	CV2121753	single nucleotide variant	NM_014679.5(CEP57):c.1128-17T>A	Mosaic variegated aneuploidy syndrome 2 [RCV002958285]	likely benign	11	95829170	95829170	Human	1	name
401905666	CV2813691	single nucleotide variant	NM_014679.5(CEP57):c.46-3673T>C	not provided [RCV003396026]	likely benign	11	95795559	95795559	Human		name
597870704	CV3749949	deletion	NM_014679.5(CEP57):c.1128-18del	Mosaic variegated aneuploidy syndrome 2 [RCV005068630]	likely benign	11	95829169	95829169	Human	1	name
597940025	CV3818770	single nucleotide variant	NM_014679.5(CEP57):c.1128-18C>T	Mosaic variegated aneuploidy syndrome 2 [RCV005158776]	likely benign	11	95829169	95829169	Human	1	name
597832082	CV3830901	microsatellite	NM_014679.5(CEP57):c.504+5_504+8del	Mosaic variegated aneuploidy syndrome 2 [RCV005170299]	uncertain significance	11	95813588	95813591	Human		name
598241904	CV3947901	single nucleotide variant	NM_014679.5(CEP57):c.9G>A (p.Ala3=)	Inborn genetic diseases [RCV005321629]	likely benign	11	95790707	95790707	Human	1	name
13817261	CV566223	deletion	NM_014679.5(CEP57):c.505-9_505-6del	Mosaic variegated aneuploidy syndrome 2 [RCV000692901]	uncertain significance	11	95817776	95817779	Human	1	name
152164354	CV1557581	single nucleotide variant	NM_014679.5(CEP57):c.15T>G (p.Ser5=)	Inborn genetic diseases [RCV005308722]\|Mosaic variegated aneuploidy syndrome 2 [RCV002141504]	likely benign	11	95790713	95790713	Human	2	name
156408879	CV1879921	single nucleotide variant	NM_014679.5(CEP57):c.21T>C (p.Ser7=)	Mosaic variegated aneuploidy syndrome 2 [RCV003071443]	likely benign	11	95790719	95790719	Human	1	name
156272150	CV1957231	single nucleotide variant	NM_014679.5(CEP57):c.18C>G (p.Val6=)	Inborn genetic diseases [RCV005321169]\|Mosaic variegated aneuploidy syndrome 2 [RCV002577195]	likely benign	11	95790716	95790716	Human	2	name
405139776	CV3125570	microsatellite	NM_014679.5(CEP57):c.808-11_808-7del	Mosaic variegated aneuploidy syndrome 2 [RCV003816677]	uncertain significance	11	95822482	95822486	Human		name
598241939	CV3947924	single nucleotide variant	NM_014679.5(CEP57):c.27T>C (p.Ala9=)	Inborn genetic diseases [RCV005321637]	likely benign	11	95790725	95790725	Human	1	name
127246864	CV1100722	single nucleotide variant	NM_014679.5(CEP57):c.90G>C (p.Arg30=)	Inborn genetic diseases [RCV005308452]\|Mosaic variegated aneuploidy syndrome 2 [RCV001435532]	likely benign	11	95799276	95799276	Human	2	name
127297700	CV1122172	single nucleotide variant	NM_014679.5(CEP57):c.75T>C (p.Asn25=)	Mosaic variegated aneuploidy syndrome 2 [RCV001460309]	likely benign	11	95799261	95799261	Human	1	name
127319556	CV1143054	single nucleotide variant	NM_014679.5(CEP57):c.48C>T (p.Asn16=)	Inborn genetic diseases [RCV005308484]\|Mosaic variegated aneuploidy syndrome 2 [RCV001504064]	likely benign	11	95799234	95799234	Human	2	name
151742022	CV1386777	single nucleotide variant	NM_014679.5(CEP57):c.3G>A (p.Met1Ile)	Mosaic variegated aneuploidy syndrome 2 [RCV001893359]	uncertain significance	11	95790701	95790701	Human	1	name
151779339	CV1496840	single nucleotide variant	NM_014679.5(CEP57):c.8C>T (p.Ala3Val)	Mosaic variegated aneuploidy syndrome 2 [RCV001930283]	uncertain significance	11	95790706	95790706	Human	1	name
152139953	CV1551146	single nucleotide variant	NM_014679.5(CEP57):c.63A>G (p.Pro21=)	Mosaic variegated aneuploidy syndrome 2 [RCV002177924]	likely benign	11	95799249	95799249	Human	1	name
156407019	CV1878567	single nucleotide variant	NM_014679.5(CEP57):c.42G>A (p.Leu14=)	Mosaic variegated aneuploidy syndrome 2 [RCV003070694]	likely benign	11	95790740	95790740	Human	1	name
156172936	CV1881390	single nucleotide variant	NM_014679.5(CEP57):c.33T>G (p.Gly11=)	Mosaic variegated aneuploidy syndrome 2 [RCV003083292]	likely benign	11	95790731	95790731	Human	1	name
156084242	CV2170461	single nucleotide variant	NM_014679.5(CEP57):c.57T>A (p.Ala19=)	Mosaic variegated aneuploidy syndrome 2 [RCV003037991]	likely benign	11	95799243	95799243	Human	1	name
11348014	CV241215	single nucleotide variant	NM_014679.5(CEP57):c.4G>A (p.Ala2Thr)	Mosaic variegated aneuploidy syndrome 2 [RCV000234087]	uncertain significance	11	95790702	95790702	Human	1	name
597877720	CV3763169	single nucleotide variant	NM_014679.5(CEP57):c.90G>T (p.Arg30=)	Mosaic variegated aneuploidy syndrome 2 [RCV005108764]	likely benign	11	95799276	95799276	Human	1	name
15132416	CV685296	deletion	NM_014679.5(CEP57):c.1272+7_1272+8del	Mosaic variegated aneuploidy syndrome 2 [RCV000863797]	benign	11	95829338	95829339	Human	1	name
15190669	CV702046	single nucleotide variant	NM_014679.5(CEP57):c.51C>T (p.Ser17=)	Inborn genetic diseases [RCV004973203]\|Mosaic variegated aneuploidy syndrome 2 [RCV001421128]	likely benign	11	95799237	95799237	Human	2	name
15192617	CV738371	single nucleotide variant	NM_014679.5(CEP57):c.36T>A (p.Ser12=)	Inborn genetic diseases [RCV005306203]\|Mosaic variegated aneuploidy syndrome 2 [RCV002065797]	likely benign	11	95790734	95790734	Human	2	name
15107741	CV779587	microsatellite	NM_014679.5(CEP57):c.382+10_382+12del	Mosaic variegated aneuploidy syndrome 2 [RCV002547274]	likely benign	11	95813118	95813120	Human		name
26908415	CV839174	single nucleotide variant	NM_014679.5(CEP57):c.88C>A (p.Arg30=)	Inborn genetic diseases [RCV005306227]\|Mosaic variegated aneuploidy syndrome 2 [RCV001038307]	likely benign\|uncertain significance	11	95799274	95799274	Human	2	name
127232949	CV1100723	single nucleotide variant	NM_014679.5(CEP57):c.111A>G (p.Val37=)	Mosaic variegated aneuploidy syndrome 2 [RCV001421519]	likely benign	11	95799297	95799297	Human	1	name
127270053	CV1100724	single nucleotide variant	NM_014679.5(CEP57):c.138T>G (p.Leu46=)	Mosaic variegated aneuploidy syndrome 2 [RCV001441301]	likely benign	11	95799324	95799324	Human	1	name
151842603	CV1379714	single nucleotide variant	NM_014679.5(CEP57):c.11C>G (p.Ala4Gly)	Mosaic variegated aneuploidy syndrome 2 [RCV001936299]	uncertain significance	11	95790709	95790709	Human	1	name
151847226	CV1483954	single nucleotide variant	NM_014679.5(CEP57):c.123G>A (p.Ser41=)	Inborn genetic diseases [RCV005308579]\|Mosaic variegated aneuploidy syndrome 2 [RCV001903597]	likely benign\|uncertain significance	11	95799309	95799309	Human	2	name
152035181	CV1582954	single nucleotide variant	NM_014679.5(CEP57):c.150A>C (p.Leu50=)	Inborn genetic diseases [RCV005308703]\|Mosaic variegated aneuploidy syndrome 2 [RCV002106868]	likely benign	11	95799336	95799336	Human	2	name
152091834	CV1616423	single nucleotide variant	NM_014679.5(CEP57):c.144T>C (p.Ser48=)	Inborn genetic diseases [RCV005308727]\|Mosaic variegated aneuploidy syndrome 2 [RCV002114180]	likely benign	11	95799330	95799330	Human	2	name
155902685	CV1975759	single nucleotide variant	NM_014679.5(CEP57):c.247T>C (p.Leu83=)	Mosaic variegated aneuploidy syndrome 2 [RCV002613484]	likely benign	11	95812976	95812976	Human	1	name
156166451	CV2091866	single nucleotide variant	NM_014679.5(CEP57):c.148C>T (p.Leu50=)	Mosaic variegated aneuploidy syndrome 2 [RCV002891188]	likely benign	11	95799334	95799334	Human	1	name
156163041	CV2135572	single nucleotide variant	NM_014679.5(CEP57):c.249G>A (p.Leu83=)	Mosaic variegated aneuploidy syndrome 2 [RCV002983076]	likely benign	11	95812978	95812978	Human	1	name
155911405	CV2153243	single nucleotide variant	NM_014679.5(CEP57):c.132T>C (p.Pro44=)	Mosaic variegated aneuploidy syndrome 2 [RCV003012283]	likely benign	11	95799318	95799318	Human	1	name
405030549	CV2883297	single nucleotide variant	NM_014679.5(CEP57):c.20C>T (p.Ser7Phe)	Mosaic variegated aneuploidy syndrome 2 [RCV003529389]	uncertain significance	11	95790718	95790718	Human	1	name
405199626	CV3059892	single nucleotide variant	NM_014679.5(CEP57):c.195C>T (p.Asn65=)	Mosaic variegated aneuploidy syndrome 2 [RCV003642000]	uncertain significance	11	95799381	95799381	Human	1	name
597656274	CV3652942	single nucleotide variant	NM_014679.5(CEP57):c.279T>C (p.Ser93=)	Inborn genetic diseases [RCV004976492]	likely benign	11	95813008	95813008	Human	1	name
597656331	CV3652958	single nucleotide variant	NM_014679.5(CEP57):c.10G>C (p.Ala4Pro)	Inborn genetic diseases [RCV004976502]	uncertain significance	11	95790708	95790708	Human	1	name
597886392	CV3835014	single nucleotide variant	NM_014679.5(CEP57):c.147T>C (p.Asp49=)	Mosaic variegated aneuploidy syndrome 2 [RCV005178738]	likely benign	11	95799333	95799333	Human	1	name
597873326	CV3859246	single nucleotide variant	NM_014679.5(CEP57):c.108T>C (p.Tyr36=)	Mosaic variegated aneuploidy syndrome 2 [RCV005197835]	likely benign	11	95799294	95799294	Human	1	name
598241867	CV3947878	single nucleotide variant	NM_014679.5(CEP57):c.114A>G (p.Val38=)	Inborn genetic diseases [RCV005321620]	likely benign	11	95799300	95799300	Human	1	name
598209481	CV3947879	single nucleotide variant	NM_014679.5(CEP57):c.273A>G (p.Glu91=)	Inborn genetic diseases [RCV005315700]	likely benign	11	95813002	95813002	Human	1	name
598209495	CV3947884	single nucleotide variant	NM_014679.5(CEP57):c.252A>G (p.Glu84=)	Inborn genetic diseases [RCV005315704]	likely benign	11	95812981	95812981	Human	1	name
598241877	CV3947886	single nucleotide variant	NM_014679.5(CEP57):c.216T>C (p.Ala72=)	Inborn genetic diseases [RCV005321622]	likely benign	11	95812945	95812945	Human	1	name
598209501	CV3947889	single nucleotide variant	NM_014679.5(CEP57):c.168G>A (p.Lys56=)	Inborn genetic diseases [RCV005315706]	likely benign	11	95799354	95799354	Human	1	name
598209518	CV3947895	single nucleotide variant	NM_014679.5(CEP57):c.162A>G (p.Pro54=)	Inborn genetic diseases [RCV005315709]	likely benign	11	95799348	95799348	Human	1	name
598209537	CV3947900	single nucleotide variant	NM_014679.5(CEP57):c.153A>G (p.Arg51=)	Inborn genetic diseases [RCV005315713]	likely benign	11	95799339	95799339	Human	1	name
598209598	CV3947915	single nucleotide variant	NM_014679.5(CEP57):c.26C>G (p.Ala9Gly)	Inborn genetic diseases [RCV005315724]	uncertain significance	11	95790724	95790724	Human	1	name
598209628	CV3947925	single nucleotide variant	NM_014679.5(CEP57):c.11C>T (p.Ala4Val)	Inborn genetic diseases [RCV005315729]	uncertain significance	11	95790709	95790709	Human	1	name
598241953	CV3947933	single nucleotide variant	NM_014679.5(CEP57):c.138T>A (p.Leu46=)	Inborn genetic diseases [RCV005321640]	likely benign	11	95799324	95799324	Human	1	name
598209680	CV3947938	single nucleotide variant	NM_014679.5(CEP57):c.129G>A (p.Lys43=)	Inborn genetic diseases [RCV005315739]	likely benign	11	95799315	95799315	Human	1	name
598209744	CV3947949	single nucleotide variant	NM_014679.5(CEP57):c.20C>G (p.Ser7Cys)	Inborn genetic diseases [RCV005315750]	uncertain significance	11	95790718	95790718	Human	1	name
598209802	CV3947961	single nucleotide variant	NM_014679.5(CEP57):c.156C>T (p.Arg52=)	Inborn genetic diseases [RCV005315761]	likely benign	11	95799342	95799342	Human	1	name
13622112	CV527096	single nucleotide variant	NM_014679.5(CEP57):c.23C>T (p.Ala8Val)	Mosaic variegated aneuploidy syndrome 2 [RCV000649349]	uncertain significance	11	95790721	95790721	Human	1	name
13622109	CV527100	single nucleotide variant	NM_014679.5(CEP57):c.26C>T (p.Ala9Val)	Inborn genetic diseases [RCV005318473]\|Mosaic variegated aneuploidy syndrome 2 [RCV000649346]	uncertain significance	11	95790724	95790724	Human	2	name
14719291	CV640525	single nucleotide variant	NM_014679.5(CEP57):c.25G>A (p.Ala9Thr)	Inborn genetic diseases [RCV004027554]\|Mosaic variegated aneuploidy syndrome 2 [RCV000796113]	likely benign\|uncertain significance	11	95790723	95790723	Human	2	name
15106567	CV784243	single nucleotide variant	NM_014679.5(CEP57):c.174A>G (p.Thr58=)	Inborn genetic diseases [RCV005306218]\|Mosaic variegated aneuploidy syndrome 2 [RCV001456500]	likely benign	11	95799360	95799360	Human	2	name
126921534	CV1047608	single nucleotide variant	NM_014679.5(CEP57):c.32G>T (p.Gly11Val)	Inborn genetic diseases [RCV005308420]\|Mosaic variegated aneuploidy syndrome 2 [RCV001363605]	uncertain significance	11	95790730	95790730	Human	2	name
127253580	CV1079000	single nucleotide variant	NM_014679.5(CEP57):c.303A>G (p.Thr101=)	Mosaic variegated aneuploidy syndrome 2 [RCV001418337]	likely benign	11	95813032	95813032	Human	1	name
127281334	CV1079001	single nucleotide variant	NM_014679.5(CEP57):c.645A>G (p.Ala215=)	Mosaic variegated aneuploidy syndrome 2 [RCV001410390]	likely benign	11	95818850	95818850	Human	1	name
127239132	CV1079002	single nucleotide variant	NM_014679.5(CEP57):c.657A>G (p.Glu219=)	Inborn genetic diseases [RCV005308439]\|Mosaic variegated aneuploidy syndrome 2 [RCV001392630]	likely benign	11	95818862	95818862	Human	2	name
127276541	CV1100725	single nucleotide variant	NM_014679.5(CEP57):c.552C>T (p.Ser184=)	Inborn genetic diseases [RCV004968168]\|Mosaic variegated aneuploidy syndrome 2 [RCV001432875]	likely benign	11	95817834	95817834	Human	2	name
127242337	CV1100726	single nucleotide variant	NM_014679.5(CEP57):c.565T>C (p.Leu189=)	Inborn genetic diseases [RCV005308448]\|Mosaic variegated aneuploidy syndrome 2 [RCV001423714]	likely benign	11	95817847	95817847	Human	2	name
127235539	CV1100727	single nucleotide variant	NM_014679.5(CEP57):c.732C>A (p.Ile244=)	Inborn genetic diseases [RCV004980477]\|Mosaic variegated aneuploidy syndrome 2 [RCV001433129]	likely benign	11	95821903	95821903	Human	2	name
127314648	CV1122173	single nucleotide variant	NM_014679.5(CEP57):c.516A>G (p.Glu172=)	Mosaic variegated aneuploidy syndrome 2 [RCV001457765]	likely benign	11	95817798	95817798	Human	1	name
127290996	CV1122174	single nucleotide variant	NM_014679.5(CEP57):c.561A>G (p.Glu187=)	Inborn genetic diseases [RCV005308470]\|Mosaic variegated aneuploidy syndrome 2 [RCV001475931]	likely benign	11	95817843	95817843	Human	2	name
127311790	CV1122176	single nucleotide variant	NM_014679.5(CEP57):c.711T>A (p.Gly237=)	Mosaic variegated aneuploidy syndrome 2 [RCV001457001]	likely benign	11	95821882	95821882	Human	1	name
127318385	CV1122177	single nucleotide variant	NM_014679.5(CEP57):c.753G>C (p.Pro251=)	Inborn genetic diseases [RCV004980528]\|Mosaic variegated aneuploidy syndrome 2 [RCV001466169]	likely benign	11	95821924	95821924	Human	2	name
127313237	CV1143055	single nucleotide variant	NM_014679.5(CEP57):c.909G>A (p.Val303=)	Mosaic variegated aneuploidy syndrome 2 [RCV001481921]	likely benign	11	95827809	95827809	Human	1	name
151758622	CV1349865	single nucleotide variant	NM_014679.5(CEP57):c.486A>G (p.Thr162=)	Mosaic variegated aneuploidy syndrome 2 [RCV001987004]	likely benign\|uncertain significance	11	95813571	95813571	Human	1	name
151800645	CV1442187	single nucleotide variant	NM_014679.5(CEP57):c.29C>T (p.Ser10Phe)	Mosaic variegated aneuploidy syndrome 2 [RCV002011535]	uncertain significance	11	95790727	95790727	Human	1	name
151739188	CV1490363	single nucleotide variant	NM_014679.5(CEP57):c.98C>T (p.Ser33Leu)	Inborn genetic diseases [RCV004975966]\|Mosaic variegated aneuploidy syndrome 2 [RCV001985071]	uncertain significance	11	95799284	95799284	Human	2	name
151837329	CV1501145	single nucleotide variant	NM_014679.5(CEP57):c.37C>T (p.His13Tyr)	Mosaic variegated aneuploidy syndrome 2 [RCV001977283]	uncertain significance	11	95790735	95790735	Human	1	name
152124611	CV1553913	single nucleotide variant	NM_014679.5(CEP57):c.417A>G (p.Lys139=)	Inborn genetic diseases [RCV004973309]\|Mosaic variegated aneuploidy syndrome 2 [RCV002098637]	likely benign	11	95813502	95813502	Human	2	name
152109032	CV1556402	single nucleotide variant	NM_014679.5(CEP57):c.918T>C (p.Asn306=)	Inborn genetic diseases [RCV005308720]\|Mosaic variegated aneuploidy syndrome 2 [RCV002096589]	likely benign	11	95827818	95827818	Human	2	name
152154416	CV1560777	single nucleotide variant	NM_014679.5(CEP57):c.427T>C (p.Leu143=)	Inborn genetic diseases [RCV004973304]\|Mosaic variegated aneuploidy syndrome 2 [RCV002102725]	likely benign	11	95813512	95813512	Human	2	name
152077435	CV1560789	deletion	NM_014679.5(CEP57):c.1127+11_1127+14del	Mosaic variegated aneuploidy syndrome 2 [RCV002112296]	likely benign	11	95828035	95828038	Human	1	name
152160680	CV1601727	single nucleotide variant	NM_014679.5(CEP57):c.633A>G (p.Gln211=)	Inborn genetic diseases [RCV004973321]\|Mosaic variegated aneuploidy syndrome 2 [RCV002180877]	likely benign	11	95818838	95818838	Human	2	name
152057202	CV1618854	single nucleotide variant	NM_014679.5(CEP57):c.723T>C (p.Asn241=)	Mosaic variegated aneuploidy syndrome 2 [RCV002127924]	likely benign	11	95821894	95821894	Human	1	name
152084412	CV1663010	single nucleotide variant	NM_014679.5(CEP57):c.555A>G (p.Gln185=)	Mosaic variegated aneuploidy syndrome 2 [RCV002170973]	likely benign	11	95817837	95817837	Human	1	name
155678898	CV1779312	single nucleotide variant	NM_014679.5(CEP57):c.48C>A (p.Asn16Lys)	Inborn genetic diseases [RCV004973424]\|Mosaic variegated aneuploidy syndrome 2 [RCV002298054]	uncertain significance	11	95799234	95799234	Human	2	name
156393284	CV1876105	single nucleotide variant	NM_014679.5(CEP57):c.35C>T (p.Ser12Phe)	Mosaic variegated aneuploidy syndrome 2 [RCV003068272]	uncertain significance	11	95790733	95790733	Human	1	name
10045082	CV188831	single nucleotide variant	NM_014679.5(CEP57):c.89G>C (p.Arg30Pro)	Mosaic variegated aneuploidy syndrome 2 [RCV001331874]\|not provided [RCV000171200]	likely pathogenic\|uncertain significance	11	95799275	95799275	Human	1	name
156166477	CV1929999	single nucleotide variant	NM_014679.5(CEP57):c.86T>G (p.Val29Gly)	Inborn genetic diseases [RCV005310935]\|Mosaic variegated aneuploidy syndrome 2 [RCV002624568]	uncertain significance	11	95799272	95799272	Human	2	name
156434867	CV1940233	single nucleotide variant	NM_014679.5(CEP57):c.56C>G (p.Ala19Gly)	Mosaic variegated aneuploidy syndrome 2 [RCV003104648]	uncertain significance	11	95799242	95799242	Human	1	name
156120385	CV2052286	single nucleotide variant	NM_014679.5(CEP57):c.772A>C (p.Arg258=)	Mosaic variegated aneuploidy syndrome 2 [RCV002825275]	likely benign	11	95821943	95821943	Human	1	name
156166215	CV2091838	single nucleotide variant	NM_014679.5(CEP57):c.654T>C (p.His218=)	Inborn genetic diseases [RCV005308850]\|Mosaic variegated aneuploidy syndrome 2 [RCV002891180]\|not provided [RCV003395530]	likely benign	11	95818859	95818859	Human	2	name
156083175	CV2098788	single nucleotide variant	NM_014679.5(CEP57):c.44C>T (p.Ser15Leu)	Inborn genetic diseases [RCV004966146]\|Mosaic variegated aneuploidy syndrome 2 [RCV002912770]	uncertain significance	11	95790742	95790742	Human	2	name
156000540	CV2106728	single nucleotide variant	NM_014679.5(CEP57):c.438A>G (p.Gln146=)	Mosaic variegated aneuploidy syndrome 2 [RCV002947764]	likely benign	11	95813523	95813523	Human	1	name
156105963	CV2120899	single nucleotide variant	NM_014679.5(CEP57):c.915C>T (p.Ala305=)	Mosaic variegated aneuploidy syndrome 2 [RCV002952914]	likely benign	11	95827815	95827815	Human	1	name
155996347	CV2122602	single nucleotide variant	NM_014679.5(CEP57):c.69G>T (p.Arg23Ser)	Mosaic variegated aneuploidy syndrome 2 [RCV002974971]	uncertain significance	11	95799255	95799255	Human	1	name
401781183	CV2681918	single nucleotide variant	NM_014679.5(CEP57):c.74A>T (p.Asn25Ile)	Inborn genetic diseases [RCV003265146]	uncertain significance	11	95799260	95799260	Human	1	name
401905667	CV2813692	single nucleotide variant	NM_014679.5(CEP57):c.729T>C (p.Leu243=)	Mosaic variegated aneuploidy syndrome 2 [RCV003528472]\|not provided [RCV003396027]	likely benign	11	95821900	95821900	Human	1	name
405028073	CV2880782	deletion	NM_014679.5(CEP57):c.1128-16_1128-14del	Mosaic variegated aneuploidy syndrome 2 [RCV003529154]	likely benign	11	95829169	95829171	Human	1	name
405029542	CV2882335	deletion	NM_014679.5(CEP57):c.1272+12_1272+13del	Mosaic variegated aneuploidy syndrome 2 [RCV003529304]	likely benign	11	95829341	95829342	Human	1	name
405028475	CV2891580	single nucleotide variant	NM_014679.5(CEP57):c.61C>T (p.Pro21Ser)	Mosaic variegated aneuploidy syndrome 2 [RCV003529190]	uncertain significance	11	95799247	95799247	Human	1	name
405017007	CV2925760	single nucleotide variant	NM_014679.5(CEP57):c.81C>A (p.Ser27Arg)	Inborn genetic diseases [RCV004369453]\|Mosaic variegated aneuploidy syndrome 2 [RCV003527838]	uncertain significance	11	95799267	95799267	Human	2	name
405198331	CV3000556	single nucleotide variant	NM_014679.5(CEP57):c.666G>A (p.Gln222=)	Mosaic variegated aneuploidy syndrome 2 [RCV003641822]	likely benign	11	95818871	95818871	Human	1	name
405188578	CV3018191	single nucleotide variant	NM_014679.5(CEP57):c.798A>T (p.Pro266=)	Mosaic variegated aneuploidy syndrome 2 [RCV003640533]	likely benign	11	95821969	95821969	Human	1	name
405200609	CV3069040	single nucleotide variant	NM_014679.5(CEP57):c.915C>G (p.Ala305=)	Inborn genetic diseases [RCV005323564]\|Mosaic variegated aneuploidy syndrome 2 [RCV003642119]	likely benign	11	95827815	95827815	Human	2	name
405266500	CV3186648	single nucleotide variant	NM_014679.5(CEP57):c.511C>T (p.Leu171=)	not provided [RCV003886729]	likely benign	11	95817793	95817793	Human		name
407469284	CV3428986	single nucleotide variant	NM_014679.5(CEP57):c.71C>G (p.Ser24Cys)	Inborn genetic diseases [RCV004614984]	uncertain significance	11	95799257	95799257	Human	1	name
408380161	CV3501074	single nucleotide variant	NM_014679.5(CEP57):c.939A>G (p.Leu313=)	not provided [RCV004722724]	likely benign	11	95827839	95827839	Human		name
597656290	CV3652948	single nucleotide variant	NM_014679.5(CEP57):c.906C>T (p.Ala302=)	Inborn genetic diseases [RCV004976495]\|Mosaic variegated aneuploidy syndrome 2 [RCV005110104]	likely benign	11	95827806	95827806	Human	2	name
597631758	CV3652966	single nucleotide variant	NM_014679.5(CEP57):c.687T>C (p.Ala229=)	Inborn genetic diseases [RCV004967796]	likely benign	11	95818892	95818892	Human	1	name
597656384	CV3652973	single nucleotide variant	NM_014679.5(CEP57):c.651C>A (p.Leu217=)	Inborn genetic diseases [RCV004976511]	likely benign	11	95818856	95818856	Human	1	name
597656408	CV3652979	single nucleotide variant	NM_014679.5(CEP57):c.961T>C (p.Leu321=)	Inborn genetic diseases [RCV004976515]	likely benign	11	95827861	95827861	Human	1	name
597631767	CV3652982	single nucleotide variant	NM_014679.5(CEP57):c.837A>G (p.Gln279=)	Inborn genetic diseases [RCV004967799]\|Mosaic variegated aneuploidy syndrome 2 [RCV005110106]	likely benign	11	95822528	95822528	Human	2	name
597631770	CV3652985	single nucleotide variant	NM_014679.5(CEP57):c.92A>G (p.His31Arg)	Inborn genetic diseases [RCV004967800]	uncertain significance	11	95799278	95799278	Human	1	name
597939269	CV3836400	single nucleotide variant	NM_014679.5(CEP57):c.523C>A (p.Arg175=)	Mosaic variegated aneuploidy syndrome 2 [RCV005187421]	likely benign	11	95817805	95817805	Human	1	name
597953412	CV3843977	single nucleotide variant	NM_014679.5(CEP57):c.600C>T (p.Thr200=)	Mosaic variegated aneuploidy syndrome 2 [RCV005190839]	likely benign	11	95817882	95817882	Human	1	name
597893073	CV3856828	single nucleotide variant	NM_014679.5(CEP57):c.699G>A (p.Glu233=)	Mosaic variegated aneuploidy syndrome 2 [RCV005200893]	uncertain significance	11	95818904	95818904	Human	1	name
598241861	CV3947874	single nucleotide variant	NM_014679.5(CEP57):c.792A>G (p.Ser264=)	Inborn genetic diseases [RCV005321619]	likely benign	11	95821963	95821963	Human	1	name
598241872	CV3947882	single nucleotide variant	NM_014679.5(CEP57):c.52T>A (p.Phe18Ile)	Inborn genetic diseases [RCV005321621]	uncertain significance	11	95799238	95799238	Human	1	name
598209492	CV3947883	single nucleotide variant	NM_014679.5(CEP57):c.888C>T (p.Ser296=)	Inborn genetic diseases [RCV005315703]	likely benign	11	95827788	95827788	Human	1	name
598209499	CV3947885	single nucleotide variant	NM_014679.5(CEP57):c.312T>C (p.Tyr104=)	Inborn genetic diseases [RCV005315705]	likely benign	11	95813041	95813041	Human	1	name
598241888	CV3947890	single nucleotide variant	NM_014679.5(CEP57):c.42G>C (p.Leu14Phe)	Inborn genetic diseases [RCV005321625]	likely benign	11	95790740	95790740	Human	1	name
598209531	CV3947899	single nucleotide variant	NM_014679.5(CEP57):c.28T>G (p.Ser10Ala)	Inborn genetic diseases [RCV005315712]	uncertain significance	11	95790726	95790726	Human	1	name
598209632	CV3947926	single nucleotide variant	NM_014679.5(CEP57):c.396G>A (p.Gln132=)	Inborn genetic diseases [RCV005315730]	likely benign	11	95813481	95813481	Human	1	name
598209660	CV3947934	single nucleotide variant	NM_014679.5(CEP57):c.717A>G (p.Glu239=)	Inborn genetic diseases [RCV005315735]	likely benign	11	95821888	95821888	Human	1	name
598209797	CV3947959	single nucleotide variant	NM_014679.5(CEP57):c.465G>A (p.Lys155=)	Inborn genetic diseases [RCV005315760]	likely benign	11	95813550	95813550	Human	1	name
12881031	CV398393	single nucleotide variant	NM_014679.5(CEP57):c.753G>A (p.Pro251=)	Mosaic variegated aneuploidy syndrome 2 [RCV000457115]\|not provided [RCV004708919]	benign	11	95821924	95821924	Human	1	name
12886018	CV398481	single nucleotide variant	NM_014679.5(CEP57):c.798A>G (p.Pro266=)	CEP57-related disorder [RCV004730948]\|Mosaic variegated aneuploidy syndrome 2 [RCV000466460]\|not provided [RCV004707303]	benign	11	95821969	95821969	Human	1	name , trait , alternate_id
12888991	CV398928	single nucleotide variant	NM_014679.5(CEP57):c.451C>A (p.Arg151=)	Inborn genetic diseases [RCV004975551]\|Mosaic variegated aneuploidy syndrome 2 [RCV000471978]	likely benign	11	95813536	95813536	Human	2	name
13487692	CV462352	single nucleotide variant	NM_014679.5(CEP57):c.510C>G (p.Ser170=)	Inborn genetic diseases [RCV004975664]\|Mosaic variegated aneuploidy syndrome 2 [RCV000554426]	likely benign	11	95817792	95817792	Human	2	name
13622103	CV526528	single nucleotide variant	NM_014679.5(CEP57):c.65C>T (p.Ser22Leu)	Inborn genetic diseases [RCV004972808]\|Mosaic variegated aneuploidy syndrome 2 [RCV000649340]	likely benign\|uncertain significance	11	95799251	95799251	Human	2	name
13622108	CV526529	single nucleotide variant	NM_014679.5(CEP57):c.95C>T (p.Ser32Phe)	Inborn genetic diseases [RCV002530531]\|Mosaic variegated aneuploidy syndrome 2 [RCV000649345]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	11	95799281	95799281	Human	2	name
13622113	CV526806	single nucleotide variant	NM_014679.5(CEP57):c.89G>A (p.Arg30Gln)	Mosaic variegated aneuploidy syndrome 2 [RCV000649350]	uncertain significance	11	95799275	95799275	Human	1	name
13815882	CV564940	single nucleotide variant	NM_014679.5(CEP57):c.50G>C (p.Ser17Thr)	Mosaic variegated aneuploidy syndrome 2 [RCV000705995]	uncertain significance	11	95799236	95799236	Human	1	name
13815885	CV571048	single nucleotide variant	NM_014679.5(CEP57):c.88C>T (p.Arg30Trp)	Inborn genetic diseases [RCV005306127]\|Mosaic variegated aneuploidy syndrome 2 [RCV000691915]	uncertain significance	11	95799274	95799274	Human	2	name
15143999	CV687832	single nucleotide variant	NM_014679.5(CEP57):c.426A>G (p.Leu142=)	Inborn genetic diseases [RCV004962881]\|Mosaic variegated aneuploidy syndrome 2 [RCV000865834]	likely benign	11	95813511	95813511	Human	2	name
15145817	CV687833	single nucleotide variant	NM_014679.5(CEP57):c.501A>G (p.Lys167=)	Inborn genetic diseases [RCV004962883]\|Mosaic variegated aneuploidy syndrome 2 [RCV000866156]\|not provided [RCV003392645]	likely benign	11	95813586	95813586	Human	2	name
15142966	CV687834	single nucleotide variant	NM_014679.5(CEP57):c.540A>G (p.Thr180=)	Inborn genetic diseases [RCV004973060]\|Mosaic variegated aneuploidy syndrome 2 [RCV001480814]	likely benign	11	95817822	95817822	Human	2	name
15135108	CV687835	single nucleotide variant	NM_014679.5(CEP57):c.669A>G (p.Glu223=)	Inborn genetic diseases [RCV005306183]\|Mosaic variegated aneuploidy syndrome 2 [RCV000864251]	likely benign	11	95818874	95818874	Human	2	name
15111305	CV693120	single nucleotide variant	NM_014679.5(CEP57):c.471C>T (p.Ala157=)	Inborn genetic diseases [RCV004973110]\|Mosaic variegated aneuploidy syndrome 2 [RCV000872288]	likely benign	11	95813556	95813556	Human	2	name
26906210	CV839173	single nucleotide variant	NM_014679.5(CEP57):c.39C>G (p.His13Gln)	Inborn genetic diseases [RCV004973254]\|Mosaic variegated aneuploidy syndrome 2 [RCV001037335]	likely benign\|uncertain significance	11	95790737	95790737	Human	2	name
38459819	CV935866	single nucleotide variant	NM_014679.5(CEP57):c.846T>C (p.Tyr282=)	Mosaic variegated aneuploidy syndrome 2 [RCV001211713]	uncertain significance	11	95822537	95822537	Human	1	name
38480928	CV947739	single nucleotide variant	NM_014679.5(CEP57):c.504A>G (p.Gln168=)	Mosaic variegated aneuploidy syndrome 2 [RCV001234904]	uncertain significance	11	95813589	95813589	Human	1	name
38466883	CV956719	single nucleotide variant	NM_014679.5(CEP57):c.31G>C (p.Gly11Arg)	Inborn genetic diseases [RCV004978210]\|Mosaic variegated aneuploidy syndrome 2 [RCV001247749]	uncertain significance	11	95790729	95790729	Human	2	name
126919392	CV1047610	single nucleotide variant	NM_014679.5(CEP57):c.205A>G (p.Ile69Val)	Inborn genetic diseases [RCV005306434]\|Mosaic variegated aneuploidy syndrome 2 [RCV001362265]	uncertain significance	11	95812934	95812934	Human	2	name
127279316	CV1079003	single nucleotide variant	NM_014679.5(CEP57):c.1233A>G (p.Lys411=)	Inborn genetic diseases [RCV005318794]\|Mosaic variegated aneuploidy syndrome 2 [RCV001409019]	likely benign	11	95829292	95829292	Human	2	name
127250250	CV1079004	single nucleotide variant	NM_014679.5(CEP57):c.1329T>G (p.Thr443=)	Mosaic variegated aneuploidy syndrome 2 [RCV001399839]	likely benign	11	95831082	95831082	Human	1	name
127267334	CV1079005	single nucleotide variant	NM_014679.5(CEP57):c.1377C>T (p.Thr459=)	Inborn genetic diseases [RCV004980437]\|Mosaic variegated aneuploidy syndrome 2 [RCV001404064]\|not provided [RCV003389871]	likely benign	11	95831130	95831130	Human	2	name
127280333	CV1100728	single nucleotide variant	NM_014679.5(CEP57):c.1404G>C (p.Leu468=)	Mosaic variegated aneuploidy syndrome 2 [RCV001446384]	likely benign	11	95831157	95831157	Human	1	name
127330242	CV1122178	single nucleotide variant	NM_014679.5(CEP57):c.1137G>A (p.Gln379=)	Mosaic variegated aneuploidy syndrome 2 [RCV001470761]	likely benign	11	95829196	95829196	Human	1	name
127304617	CV1122179	single nucleotide variant	NM_014679.5(CEP57):c.1164G>A (p.Ser388=)	Inborn genetic diseases [RCV004980512]\|Mosaic variegated aneuploidy syndrome 2 [RCV001455010]	likely benign	11	95829223	95829223	Human	2	name
127330946	CV1143056	single nucleotide variant	NM_014679.5(CEP57):c.1134C>T (p.His378=)	Mosaic variegated aneuploidy syndrome 2 [RCV001488504]	likely benign	11	95829193	95829193	Human	1	name
127334034	CV1143057	single nucleotide variant	NM_014679.5(CEP57):c.1170C>T (p.Thr390=)	Mosaic variegated aneuploidy syndrome 2 [RCV001490564]	likely benign	11	95829229	95829229	Human	1	name
151664385	CV1332538	single nucleotide variant	NM_014679.5(CEP57):c.154C>T (p.Arg52Cys)	Mosaic variegated aneuploidy syndrome 2 [RCV001829265]	uncertain significance	11	95799340	95799340	Human	1	name
151861909	CV1353383	single nucleotide variant	NM_014679.5(CEP57):c.242G>A (p.Arg81Gln)	Mosaic variegated aneuploidy syndrome 2 [RCV001924103]	uncertain significance	11	95812971	95812971	Human	1	name
151817927	CV1390461	single nucleotide variant	NM_014679.5(CEP57):c.185C>T (p.Pro62Leu)	Mosaic variegated aneuploidy syndrome 2 [RCV001954463]	uncertain significance	11	95799371	95799371	Human	1	name
151715965	CV1470492	single nucleotide variant	NM_014679.5(CEP57):c.131C>T (p.Pro44Leu)	Inborn genetic diseases [RCV004975829]\|Mosaic variegated aneuploidy syndrome 2 [RCV001908966]	uncertain significance	11	95799317	95799317	Human	2	name
151891856	CV1503148	single nucleotide variant	NM_014679.5(CEP57):c.155G>A (p.Arg52His)	Inborn genetic diseases [RCV005308592]\|Mosaic variegated aneuploidy syndrome 2 [RCV001943524]	uncertain significance	11	95799341	95799341	Human	2	name
151868983	CV1514658	single nucleotide variant	NM_014679.5(CEP57):c.152G>A (p.Arg51Gln)	Inborn genetic diseases [RCV004044537]\|Mosaic variegated aneuploidy syndrome 2 [RCV001998083]	uncertain significance	11	95799338	95799338	Human	2	name
152072374	CV1552311	single nucleotide variant	NM_014679.5(CEP57):c.1078T>C (p.Leu360=)	Mosaic variegated aneuploidy syndrome 2 [RCV002148257]	likely benign	11	95827978	95827978	Human	1	name
152138833	CV1570981	single nucleotide variant	NM_014679.5(CEP57):c.1209A>C (p.Ala403=)	Mosaic variegated aneuploidy syndrome 2 [RCV002120074]	likely benign	11	95829268	95829268	Human	1	name
152035790	CV1590483	single nucleotide variant	NM_014679.5(CEP57):c.1374G>A (p.Gly458=)	Mosaic variegated aneuploidy syndrome 2 [RCV002205552]	likely benign	11	95831127	95831127	Human	1	name
152086344	CV1608347	single nucleotide variant	NM_014679.5(CEP57):c.1392T>C (p.Asp464=)	Mosaic variegated aneuploidy syndrome 2 [RCV002212092]	likely benign	11	95831145	95831145	Human	1	name
152107580	CV1624068	single nucleotide variant	NM_014679.5(CEP57):c.1344A>G (p.Arg448=)	Mosaic variegated aneuploidy syndrome 2 [RCV002134056]	likely benign	11	95831097	95831097	Human	1	name
152134470	CV1645965	single nucleotide variant	NM_014679.5(CEP57):c.1099T>C (p.Leu367=)	Inborn genetic diseases [RCV005308711]\|Mosaic variegated aneuploidy syndrome 2 [RCV002177239]	likely benign	11	95827999	95827999	Human	2	name
156045892	CV1868707	single nucleotide variant	NM_014679.5(CEP57):c.1128T>C (p.Phe376=)	Mosaic variegated aneuploidy syndrome 2 [RCV003052824]	uncertain significance	11	95829187	95829187	Human	1	name
156410795	CV1882763	single nucleotide variant	NM_014679.5(CEP57):c.274G>A (p.Glu92Lys)	Mosaic variegated aneuploidy syndrome 2 [RCV003072212]	uncertain significance	11	95813003	95813003	Human	1	name
156194611	CV1889454	single nucleotide variant	NM_014679.5(CEP57):c.191G>A (p.Ser64Asn)	Inborn genetic diseases [RCV003072549]\|Mosaic variegated aneuploidy syndrome 2 [RCV003083989]	uncertain significance	11	95799377	95799377	Human	2	name
156223794	CV1899993	microsatellite	NM_014679.5(CEP57):c.20_21del (p.Ser7fs)	Mosaic variegated aneuploidy syndrome 2 [RCV003085098]	pathogenic	11	95790715	95790716	Human		name
156076162	CV1912410	single nucleotide variant	NM_014679.5(CEP57):c.1011T>G (p.Ser337=)	Inborn genetic diseases [RCV005310918]\|Mosaic variegated aneuploidy syndrome 2 [RCV002591425]	likely benign	11	95827911	95827911	Human	2	name
156301816	CV1955612	single nucleotide variant	NM_014679.5(CEP57):c.1347C>T (p.Asn449=)	Mosaic variegated aneuploidy syndrome 2 [RCV002578259]	likely benign	11	95831100	95831100	Human	1	name
156225404	CV2009443	single nucleotide variant	NM_014679.5(CEP57):c.1335T>C (p.Asp445=)	Mosaic variegated aneuploidy syndrome 2 [RCV002701164]	likely benign	11	95831088	95831088	Human	1	name
156278128	CV2053698	single nucleotide variant	NM_014679.5(CEP57):c.1323A>G (p.Lys441=)	Mosaic variegated aneuploidy syndrome 2 [RCV002806897]	likely benign	11	95831076	95831076	Human	1	name
155957625	CV2087095	single nucleotide variant	NM_014679.5(CEP57):c.256G>C (p.Glu86Gln)	Inborn genetic diseases [RCV005308845]\|Mosaic variegated aneuploidy syndrome 2 [RCV002862694]	uncertain significance	11	95812985	95812985	Human	2	name
156085427	CV2095075	single nucleotide variant	NM_014679.5(CEP57):c.163A>G (p.Ser55Gly)	Mosaic variegated aneuploidy syndrome 2 [RCV002912846]	uncertain significance	11	95799349	95799349	Human	1	name
156139287	CV2116538	single nucleotide variant	NM_014679.5(CEP57):c.1201T>C (p.Leu401=)	Inborn genetic diseases [RCV005308860]\|Mosaic variegated aneuploidy syndrome 2 [RCV002914846]	likely benign	11	95829260	95829260	Human	2	name
156004678	CV2126498	single nucleotide variant	NM_014679.5(CEP57):c.297A>T (p.Arg99Ser)	Inborn genetic diseases [RCV004973785]\|Mosaic variegated aneuploidy syndrome 2 [RCV002975346]	uncertain significance	11	95813026	95813026	Human	2	name
156292144	CV2166174	single nucleotide variant	NM_014679.5(CEP57):c.1206G>A (p.Glu402=)	Inborn genetic diseases [RCV005323291]\|Mosaic variegated aneuploidy syndrome 2 [RCV003045185]	likely benign	11	95829265	95829265	Human	2	name
156251700	CV2174653	single nucleotide variant	NM_014679.5(CEP57):c.215C>T (p.Ala72Val)	Mosaic variegated aneuploidy syndrome 2 [RCV003043812]	uncertain significance	11	95812944	95812944	Human	1	name
243055063	CV2407263	single nucleotide variant	NM_014679.5(CEP57):c.142A>T (p.Ser48Cys)	Inborn genetic diseases [RCV005310960]\|Mosaic variegated aneuploidy syndrome 2 [RCV003144813]	uncertain significance	11	95799328	95799328	Human	2	name
11347516	CV241217	single nucleotide variant	NM_014679.5(CEP57):c.1036T>C (p.Leu346=)	Inborn genetic diseases [RCV004975351]\|Mosaic variegated aneuploidy syndrome 2 [RCV000232418]\|not provided [RCV003389767]	benign\|likely benign	11	95827936	95827936	Human	2	name
405028377	CV2881331	single nucleotide variant	NM_014679.5(CEP57):c.1179G>T (p.Leu393=)	Inborn genetic diseases [RCV004963704]\|Mosaic variegated aneuploidy syndrome 2 [RCV003529181]	likely benign	11	95829238	95829238	Human	2	name
405028705	CV2881564	single nucleotide variant	NM_014679.5(CEP57):c.148C>A (p.Leu50Ile)	Mosaic variegated aneuploidy syndrome 2 [RCV003529209]	uncertain significance	11	95799334	95799334	Human	1	name
405195722	CV2965350	single nucleotide variant	NM_014679.5(CEP57):c.274G>C (p.Glu92Gln)	Mosaic variegated aneuploidy syndrome 2 [RCV003641442]	uncertain significance	11	95813003	95813003	Human	1	name
405196538	CV2981481	single nucleotide variant	NM_014679.5(CEP57):c.207A>G (p.Ile69Met)	Inborn genetic diseases [RCV005311030]\|Mosaic variegated aneuploidy syndrome 2 [RCV003641559]	uncertain significance	11	95812936	95812936	Human	2	name
405196449	CV2987957	single nucleotide variant	NM_014679.5(CEP57):c.1491T>C (p.Cys497=)	Mosaic variegated aneuploidy syndrome 2 [RCV003641545]	likely benign	11	95831244	95831244	Human	1	name
405199212	CV3048548	single nucleotide variant	NM_014679.5(CEP57):c.1455A>G (p.Gln485=)	Inborn genetic diseases [RCV005311047]\|Mosaic variegated aneuploidy syndrome 2 [RCV003641949]	likely benign	11	95831208	95831208	Human	2	name
405199160	CV3055328	single nucleotide variant	NM_014679.5(CEP57):c.152G>T (p.Arg51Leu)	Mosaic variegated aneuploidy syndrome 2 [RCV003641942]	uncertain significance	11	95799338	95799338	Human	1	name
404993893	CV3132526	single nucleotide variant	NM_014679.5(CEP57):c.1236C>G (p.Ala412=)	Inborn genetic diseases [RCV005311079]\|Mosaic variegated aneuploidy syndrome 2 [RCV003827465]	likely benign	11	95829295	95829295	Human	2	name
597656285	CV3652947	single nucleotide variant	NM_014679.5(CEP57):c.1098T>C (p.Thr366=)	Inborn genetic diseases [RCV004976494]	likely benign	11	95827998	95827998	Human	1	name
597656304	CV3652952	single nucleotide variant	NM_014679.5(CEP57):c.272A>G (p.Glu91Gly)	Inborn genetic diseases [RCV004976498]	uncertain significance	11	95813001	95813001	Human	1	name
597656341	CV3652961	single nucleotide variant	NM_014679.5(CEP57):c.1170C>G (p.Thr390=)	Inborn genetic diseases [RCV004976504]	likely benign	11	95829229	95829229	Human	1	name
597656346	CV3652962	single nucleotide variant	NM_014679.5(CEP57):c.1395T>C (p.Phe465=)	Inborn genetic diseases [RCV004976505]	likely benign	11	95831148	95831148	Human	1	name
597656392	CV3652975	single nucleotide variant	NM_014679.5(CEP57):c.229C>G (p.Gln77Glu)	Inborn genetic diseases [RCV004976512]	uncertain significance	11	95812958	95812958	Human	1	name
597631765	CV3652980	single nucleotide variant	NM_014679.5(CEP57):c.1177C>T (p.Leu393=)	Inborn genetic diseases [RCV004967798]	likely benign	11	95829236	95829236	Human	1	name
597669751	CV3707044	single nucleotide variant	NM_014679.5(CEP57):c.142A>G (p.Ser48Gly)	Mosaic variegated aneuploidy syndrome 2 [RCV005004752]	uncertain significance	11	95799328	95799328	Human	1	name
597904395	CV3793278	single nucleotide variant	NM_014679.5(CEP57):c.203C>T (p.Ala68Val)	Mosaic variegated aneuploidy syndrome 2 [RCV005153246]	uncertain significance	11	95812932	95812932	Human	1	name
597953812	CV3815941	single nucleotide variant	NM_014679.5(CEP57):c.181T>C (p.Tyr61His)	Mosaic variegated aneuploidy syndrome 2 [RCV005161693]	uncertain significance	11	95799367	95799367	Human	1	name
597869408	CV3835170	single nucleotide variant	NM_014679.5(CEP57):c.1441T>C (p.Leu481=)	Mosaic variegated aneuploidy syndrome 2 [RCV005176346]	likely benign	11	95831194	95831194	Human	1	name
597904979	CV3846243	single nucleotide variant	NM_014679.5(CEP57):c.1437G>A (p.Gln479=)	Mosaic variegated aneuploidy syndrome 2 [RCV005181866]	likely benign	11	95831190	95831190	Human	1	name
598209464	CV3947871	single nucleotide variant	NM_014679.5(CEP57):c.1470A>G (p.Ser490=)	Inborn genetic diseases [RCV005315695]	likely benign	11	95831223	95831223	Human	1	name
598209552	CV3947904	single nucleotide variant	NM_014679.5(CEP57):c.1189T>C (p.Leu397=)	Inborn genetic diseases [RCV005315716]	likely benign	11	95829248	95829248	Human	1	name
598241912	CV3947907	single nucleotide variant	NM_014679.5(CEP57):c.116A>G (p.Tyr39Cys)	Inborn genetic diseases [RCV005321631]	uncertain significance	11	95799302	95799302	Human	1	name
598209564	CV3947909	single nucleotide variant	NM_014679.5(CEP57):c.1083A>G (p.Ser361=)	Inborn genetic diseases [RCV005315718]	likely benign	11	95827983	95827983	Human	1	name
598209569	CV3947910	single nucleotide variant	NM_014679.5(CEP57):c.1288T>C (p.Leu430=)	Inborn genetic diseases [RCV005315719]	likely benign	11	95831041	95831041	Human	1	name
598209603	CV3947917	single nucleotide variant	NM_014679.5(CEP57):c.1197T>C (p.Cys399=)	Inborn genetic diseases [RCV005315725]	likely benign	11	95829256	95829256	Human	1	name
598209613	CV3947920	single nucleotide variant	NM_014679.5(CEP57):c.241C>G (p.Arg81Gly)	Inborn genetic diseases [RCV005315727]	uncertain significance	11	95812970	95812970	Human	1	name
598241933	CV3947922	single nucleotide variant	NM_014679.5(CEP57):c.1176A>G (p.Glu392=)	Inborn genetic diseases [RCV005321636]	likely benign	11	95829235	95829235	Human	1	name
598209647	CV3947931	single nucleotide variant	NM_014679.5(CEP57):c.127A>G (p.Lys43Glu)	Inborn genetic diseases [RCV005315733]	uncertain significance	11	95799313	95799313	Human	1	name
598209691	CV3947940	single nucleotide variant	NM_014679.5(CEP57):c.1425A>G (p.Arg475=)	Inborn genetic diseases [RCV005315741]	likely benign	11	95831178	95831178	Human	1	name
598209708	CV3947943	single nucleotide variant	NM_014679.5(CEP57):c.1080G>A (p.Leu360=)	Inborn genetic diseases [RCV005315744]	likely benign	11	95827980	95827980	Human	1	name
598209713	CV3947944	single nucleotide variant	NM_014679.5(CEP57):c.1194G>A (p.Glu398=)	Inborn genetic diseases [RCV005315745]	likely benign	11	95829253	95829253	Human	1	name
598209723	CV3947946	single nucleotide variant	NM_014679.5(CEP57):c.293C>T (p.Ser98Phe)	Inborn genetic diseases [RCV005315747]	uncertain significance	11	95813022	95813022	Human	1	name
598209749	CV3947950	single nucleotide variant	NM_014679.5(CEP57):c.226C>A (p.Leu76Ile)	Inborn genetic diseases [RCV005315751]	uncertain significance	11	95812955	95812955	Human	1	name
598209755	CV3947951	single nucleotide variant	NM_014679.5(CEP57):c.1422G>A (p.Arg474=)	Inborn genetic diseases [RCV005315752]	likely benign	11	95831175	95831175	Human	1	name
598209771	CV3947954	single nucleotide variant	NM_014679.5(CEP57):c.286A>G (p.Thr96Ala)	Inborn genetic diseases [RCV005315755]	uncertain significance	11	95813015	95813015	Human	1	name
598209776	CV3947955	single nucleotide variant	NM_014679.5(CEP57):c.295A>G (p.Arg99Gly)	Inborn genetic diseases [RCV005315756]	uncertain significance	11	95813024	95813024	Human	1	name
598209791	CV3947958	single nucleotide variant	NM_014679.5(CEP57):c.1116G>T (p.Gly372=)	Inborn genetic diseases [RCV005315759]	likely benign	11	95828016	95828016	Human	1	name
598241962	CV3947964	single nucleotide variant	NM_014679.5(CEP57):c.283A>G (p.Lys95Glu)	Inborn genetic diseases [RCV005321642]	uncertain significance	11	95813012	95813012	Human	1	name
8568516	CV39649	single nucleotide variant	NM_014679.5(CEP57):c.241C>T (p.Arg81Ter)	Mosaic variegated aneuploidy syndrome 2 [RCV000023670]	pathogenic	11	95812970	95812970	Human	1	name
13212914	CV425300	deletion	NM_014679.5(CEP57):c.724del (p.Arg242fs)	Mosaic variegated aneuploidy syndrome [RCV000498788]	pathogenic	11	95821895	95821895	Human	1	name
13476006	CV461730	single nucleotide variant	NM_014679.5(CEP57):c.1008A>G (p.Val336=)	Mosaic variegated aneuploidy syndrome 2 [RCV000548978]	likely benign	11	95827908	95827908	Human	1	name
13622114	CV527102	single nucleotide variant	NM_014679.5(CEP57):c.1065T>C (p.Gly355=)	Mosaic variegated aneuploidy syndrome 2 [RCV000649351]	likely benign	11	95827965	95827965	Human	1	name
13801312	CV567575	single nucleotide variant	NM_014679.5(CEP57):c.1273C>T (p.Leu425=)	Mosaic variegated aneuploidy syndrome 2 [RCV000697740]	uncertain significance	11	95831026	95831026	Human	1	name
14716830	CV640526	single nucleotide variant	NM_014679.5(CEP57):c.122C>T (p.Ser41Leu)	Mosaic variegated aneuploidy syndrome 2 [RCV000795242]	uncertain significance	11	95799308	95799308	Human	1	name
15156088	CV687837	single nucleotide variant	NM_014679.5(CEP57):c.1020T>C (p.Gly340=)	Mosaic variegated aneuploidy syndrome 2 [RCV000868163]	likely benign	11	95827920	95827920	Human	1	name
15143728	CV687838	single nucleotide variant	NM_014679.5(CEP57):c.1062C>T (p.Asn354=)	Inborn genetic diseases [RCV004973061]\|Mosaic variegated aneuploidy syndrome 2 [RCV000865785]	likely benign	11	95827962	95827962	Human	2	name
15152784	CV687839	single nucleotide variant	NM_014679.5(CEP57):c.1074G>A (p.Glu358=)	not provided [RCV000867509]	likely benign	11	95827974	95827974	Human		name
15135240	CV784244	single nucleotide variant	NM_014679.5(CEP57):c.1104G>A (p.Gln368=)	Mosaic variegated aneuploidy syndrome 2 [RCV001434616]	likely benign	11	95828004	95828004	Human	1	name
26922971	CV839175	single nucleotide variant	NM_014679.5(CEP57):c.145G>A (p.Asp49Asn)	Inborn genetic diseases [RCV003160515]\|Mosaic variegated aneuploidy syndrome 2 [RCV001063077]	uncertain significance	11	95799331	95799331	Human	2	name
26889835	CV839176	single nucleotide variant	NM_014679.5(CEP57):c.170C>G (p.Pro57Arg)	Inborn genetic diseases [RCV004973282]\|Mosaic variegated aneuploidy syndrome 2 [RCV001045778]	uncertain significance	11	95799356	95799356	Human	2	name
26892908	CV839177	single nucleotide variant	NM_014679.5(CEP57):c.226C>G (p.Leu76Val)	Inborn genetic diseases [RCV004977989]\|Mosaic variegated aneuploidy syndrome 2 [RCV001068875]	uncertain significance	11	95812955	95812955	Human	2	name
26920882	CV839178	single nucleotide variant	NM_014679.5(CEP57):c.244C>T (p.Arg82Cys)	Mosaic variegated aneuploidy syndrome 2 [RCV001060429]\|not provided [RCV003227907]	uncertain significance	11	95812973	95812973	Human	1	name
26905741	CV839179	single nucleotide variant	NM_014679.5(CEP57):c.258G>C (p.Glu86Asp)	Mosaic variegated aneuploidy syndrome 2 [RCV001051455]	uncertain significance	11	95812987	95812987	Human	1	name
38490504	CV926418	single nucleotide variant	NM_014679.5(CEP57):c.100T>C (p.Ser34Pro)	Inborn genetic diseases [RCV004609674]\|Mosaic variegated aneuploidy syndrome 2 [RCV001222185]	uncertain significance	11	95799286	95799286	Human	2	name
38483498	CV926419	single nucleotide variant	NM_014679.5(CEP57):c.245G>A (p.Arg82His)	Inborn genetic diseases [RCV005306325]\|Mosaic variegated aneuploidy syndrome 2 [RCV001218977]	uncertain significance	11	95812974	95812974	Human	2	name
38481689	CV947735	single nucleotide variant	NM_014679.5(CEP57):c.292T>C (p.Ser98Pro)	Inborn genetic diseases [RCV004978173]\|Mosaic variegated aneuploidy syndrome 2 [RCV001235154]	uncertain significance	11	95813021	95813021	Human	2	name
42722892	CV985288	single nucleotide variant	NM_014679.5(CEP57):c.233A>G (p.Asp78Gly)	Inborn genetic diseases [RCV002538417]\|Mosaic variegated aneuploidy syndrome 2 [RCV001292895]	uncertain significance	11	95812962	95812962	Human	2	name
126754850	CV994848	single nucleotide variant	NM_014679.5(CEP57):c.217C>T (p.Leu73Phe)	Mosaic variegated aneuploidy syndrome 2 [RCV001307725]	uncertain significance	11	95812946	95812946	Human	1	name
126760121	CV994849	single nucleotide variant	NM_014679.5(CEP57):c.263T>C (p.Ile88Thr)	Mosaic variegated aneuploidy syndrome 2 [RCV001299701]	uncertain significance	11	95812992	95812992	Human	1	name
126754424	CV1010059	single nucleotide variant	NM_014679.5(CEP57):c.599C>A (p.Thr200Asn)	Inborn genetic diseases [RCV004978307]\|Mosaic variegated aneuploidy syndrome 2 [RCV001316702]	uncertain significance	11	95817881	95817881	Human	2	name
126746844	CV1010060	single nucleotide variant	NM_014679.5(CEP57):c.752C>T (p.Pro251Leu)	Inborn genetic diseases [RCV005306409]\|Mosaic variegated aneuploidy syndrome 2 [RCV001326070]	uncertain significance	11	95821923	95821923	Human	2	name
126918594	CV1047611	single nucleotide variant	NM_014679.5(CEP57):c.337C>G (p.Gln113Glu)	Inborn genetic diseases [RCV005306433]\|Mosaic variegated aneuploidy syndrome 2 [RCV001361813]	uncertain significance	11	95813066	95813066	Human	2	name
126909312	CV1047612	single nucleotide variant	NM_014679.5(CEP57):c.601A>G (p.Thr201Ala)	Mosaic variegated aneuploidy syndrome 2 [RCV001368376]	uncertain significance	11	95817883	95817883	Human	1	name
126924753	CV1047613	single nucleotide variant	NM_014679.5(CEP57):c.676C>T (p.Arg226Cys)	Inborn genetic diseases [RCV004968136]\|Mosaic variegated aneuploidy syndrome 2 [RCV001367395]	uncertain significance	11	95818881	95818881	Human	2	name
126917890	CV1047614	single nucleotide variant	NM_014679.5(CEP57):c.704A>G (p.Gln235Arg)	Mosaic variegated aneuploidy syndrome 2 [RCV001361421]	uncertain significance	11	95821875	95821875	Human	1	name
126910132	CV1047615	single nucleotide variant	NM_014679.5(CEP57):c.742A>G (p.Lys248Glu)	Inborn genetic diseases [RCV004968140]\|Mosaic variegated aneuploidy syndrome 2 [RCV001368788]	uncertain significance	11	95821913	95821913	Human	2	name
151780286	CV1341738	single nucleotide variant	NM_014679.5(CEP57):c.974G>A (p.Arg325Gln)	Inborn genetic diseases [RCV005308550]\|Mosaic variegated aneuploidy syndrome 2 [RCV001897173]	uncertain significance	11	95827874	95827874	Human	2	name
151859648	CV1344021	single nucleotide variant	NM_014679.5(CEP57):c.515A>G (p.Glu172Gly)	Mosaic variegated aneuploidy syndrome 2 [RCV002034207]	uncertain significance	11	95817797	95817797	Human	1	name
151811695	CV1359497	single nucleotide variant	NM_014679.5(CEP57):c.544G>A (p.Val182Ile)	Inborn genetic diseases [RCV005308662]\|Mosaic variegated aneuploidy syndrome 2 [RCV001991891]	uncertain significance	11	95817826	95817826	Human	2	name
151857746	CV1377465	single nucleotide variant	NM_014679.5(CEP57):c.472G>A (p.Glu158Lys)	Mosaic variegated aneuploidy syndrome 2 [RCV001938158]	uncertain significance	11	95813557	95813557	Human	1	name
151841787	CV1379533	single nucleotide variant	NM_014679.5(CEP57):c.858G>T (p.Leu286Phe)	Inborn genetic diseases [RCV005320989]\|Mosaic variegated aneuploidy syndrome 2 [RCV001936210]	uncertain significance	11	95822549	95822549	Human	2	name
151842758	CV1379738	single nucleotide variant	NM_014679.5(CEP57):c.880G>A (p.Gly294Arg)	Mosaic variegated aneuploidy syndrome 2 [RCV001936316]	uncertain significance	11	95822571	95822571	Human	1	name
151820294	CV1387014	single nucleotide variant	NM_014679.5(CEP57):c.566T>C (p.Leu189Ser)	Mosaic variegated aneuploidy syndrome 2 [RCV001954689]	uncertain significance	11	95817848	95817848	Human	1	name
151879684	CV1388300	single nucleotide variant	NM_014679.5(CEP57):c.818G>T (p.Arg273Met)	Inborn genetic diseases [RCV005321017]\|Mosaic variegated aneuploidy syndrome 2 [RCV001982352]	uncertain significance	11	95822509	95822509	Human	2	name
151858605	CV1399945	single nucleotide variant	NM_014679.5(CEP57):c.523C>T (p.Arg175Ter)	Mosaic variegated aneuploidy syndrome 2 [RCV001923710]	pathogenic	11	95817805	95817805	Human	1	name
151890639	CV1405266	single nucleotide variant	NM_014679.5(CEP57):c.358A>G (p.Asn120Asp)	Inborn genetic diseases [RCV004970376]\|Mosaic variegated aneuploidy syndrome 2 [RCV001888464]	uncertain significance	11	95813087	95813087	Human	2	name
151852501	CV1409312	single nucleotide variant	NM_014679.5(CEP57):c.923A>G (p.Gln308Arg)	Mosaic variegated aneuploidy syndrome 2 [RCV001937546]	uncertain significance	11	95827823	95827823	Human	1	name
151764719	CV1418620	single nucleotide variant	NM_014679.5(CEP57):c.968A>G (p.Asn323Ser)	Inborn genetic diseases [RCV005308598]\|Mosaic variegated aneuploidy syndrome 2 [RCV001928925]	uncertain significance	11	95827868	95827868	Human	2	name
151720875	CV1420925	single nucleotide variant	NM_014679.5(CEP57):c.452G>A (p.Arg151Gln)	Mosaic variegated aneuploidy syndrome 2 [RCV002040059]	uncertain significance	11	95813537	95813537	Human	1	name
151745538	CV1428169	single nucleotide variant	NM_014679.5(CEP57):c.684A>C (p.Gln228His)	Mosaic variegated aneuploidy syndrome 2 [RCV001926916]	uncertain significance	11	95818889	95818889	Human	1	name
151746128	CV1428260	single nucleotide variant	NM_014679.5(CEP57):c.347A>G (p.Glu116Gly)	Mosaic variegated aneuploidy syndrome 2 [RCV001926981]	uncertain significance	11	95813076	95813076	Human	1	name
151746906	CV1428387	single nucleotide variant	NM_014679.5(CEP57):c.378T>A (p.Asn126Lys)	Mosaic variegated aneuploidy syndrome 2 [RCV001927075]	uncertain significance	11	95813107	95813107	Human	1	name
151772104	CV1431407	single nucleotide variant	NM_014679.5(CEP57):c.461T>C (p.Ile154Thr)	Inborn genetic diseases [RCV005308572]\|Mosaic variegated aneuploidy syndrome 2 [RCV001915081]	uncertain significance	11	95813546	95813546	Human	2	name
151828310	CV1435713	single nucleotide variant	NM_014679.5(CEP57):c.628A>G (p.Met210Val)	Inborn genetic diseases [RCV005321006]\|Mosaic variegated aneuploidy syndrome 2 [RCV001955427]	uncertain significance	11	95818833	95818833	Human	2	name
151802717	CV1443878	single nucleotide variant	NM_014679.5(CEP57):c.821A>G (p.Asn274Ser)	Inborn genetic diseases [RCV004975816]\|Mosaic variegated aneuploidy syndrome 2 [RCV001917859]	uncertain significance	11	95822512	95822512	Human	2	name
151753252	CV1471034	single nucleotide variant	NM_014679.5(CEP57):c.628A>T (p.Met210Leu)	Inborn genetic diseases [RCV004975916]\|Mosaic variegated aneuploidy syndrome 2 [RCV001948363]	uncertain significance	11	95818833	95818833	Human	2	name
151784307	CV1474583	single nucleotide variant	NM_014679.5(CEP57):c.767C>T (p.Ala256Val)	Mosaic variegated aneuploidy syndrome 2 [RCV001930740]	uncertain significance	11	95821938	95821938	Human	1	name
151723278	CV1500239	single nucleotide variant	NM_014679.5(CEP57):c.502C>A (p.Gln168Lys)	Inborn genetic diseases [RCV005320957]\|Mosaic variegated aneuploidy syndrome 2 [RCV001910030]	uncertain significance	11	95813587	95813587	Human	2	name
155749489	CV1778220	single nucleotide variant	NM_014679.5(CEP57):c.652C>T (p.His218Tyr)	Mosaic variegated aneuploidy syndrome 2 [RCV002304705]	uncertain significance	11	95818857	95818857	Human	1	name
156185919	CV1885759	single nucleotide variant	NM_014679.5(CEP57):c.698A>T (p.Glu233Val)	Mosaic variegated aneuploidy syndrome 2 [RCV003083712]	uncertain significance	11	95818903	95818903	Human	1	name
156404329	CV1886652	single nucleotide variant	NM_014679.5(CEP57):c.763A>T (p.Asn255Tyr)	Mosaic variegated aneuploidy syndrome 2 [RCV003069683]	uncertain significance	11	95821934	95821934	Human	1	name
156308261	CV1895077	single nucleotide variant	NM_014679.5(CEP57):c.341A>T (p.Glu114Val)	Mosaic variegated aneuploidy syndrome 2 [RCV003088291]	uncertain significance	11	95813070	95813070	Human	1	name
156378874	CV1927345	deletion	NM_014679.5(CEP57):c.1325del (p.Lys442fs)	Mosaic variegated aneuploidy syndrome 2 [RCV002634100]	uncertain significance	11	95831074	95831074	Human	1	name
156058045	CV1928885	single nucleotide variant	NM_014679.5(CEP57):c.755G>T (p.Cys252Phe)	Mosaic variegated aneuploidy syndrome 2 [RCV002620847]	uncertain significance	11	95821926	95821926	Human	1	name
156161398	CV1933226	single nucleotide variant	NM_014679.5(CEP57):c.526C>G (p.Gln176Glu)	Mosaic variegated aneuploidy syndrome 2 [RCV002624383]	uncertain significance	11	95817808	95817808	Human	1	name
156449868	CV1938444	single nucleotide variant	NM_014679.5(CEP57):c.952A>G (p.Ser318Gly)	Inborn genetic diseases [RCV005310952]\|Mosaic variegated aneuploidy syndrome 2 [RCV003121998]	uncertain significance	11	95827852	95827852	Human	2	name
155963305	CV2089239	single nucleotide variant	NM_014679.5(CEP57):c.974G>C (p.Arg325Pro)	Inborn genetic diseases [RCV002881127]\|Mosaic variegated aneuploidy syndrome 2 [RCV002894308]	uncertain significance	11	95827874	95827874	Human	2	name
156124736	CV2112276	single nucleotide variant	NM_014679.5(CEP57):c.832G>A (p.Ala278Thr)	Mosaic variegated aneuploidy syndrome 2 [RCV002927961]	uncertain significance	11	95822523	95822523	Human	1	name
155951395	CV2123525	single nucleotide variant	NM_014679.5(CEP57):c.983A>G (p.Asn328Ser)	Inborn genetic diseases [RCV005308873]\|Mosaic variegated aneuploidy syndrome 2 [RCV002971887]	likely benign\|uncertain significance	11	95827883	95827883	Human	2	name
156356997	CV2126137	single nucleotide variant	NM_014679.5(CEP57):c.413A>G (p.Asn138Ser)	Inborn genetic diseases [RCV004973780]\|Mosaic variegated aneuploidy syndrome 2 [RCV002966731]	uncertain significance	11	95813498	95813498	Human	2	name
156101215	CV2132294	single nucleotide variant	NM_014679.5(CEP57):c.862G>A (p.Asp288Asn)	Mosaic variegated aneuploidy syndrome 2 [RCV003002220]	uncertain significance	11	95822553	95822553	Human	1	name
155956266	CV2144043	single nucleotide variant	NM_014679.5(CEP57):c.391T>A (p.Ser131Thr)	Inborn genetic diseases [RCV004978459]\|Mosaic variegated aneuploidy syndrome 2 [RCV002994912]	uncertain significance	11	95813476	95813476	Human	2	name
156020847	CV2148021	single nucleotide variant	NM_014679.5(CEP57):c.911T>C (p.Val304Ala)	Inborn genetic diseases [RCV005308887]\|Mosaic variegated aneuploidy syndrome 2 [RCV003018221]	uncertain significance	11	95827811	95827811	Human	2	name
155915962	CV2149883	single nucleotide variant	NM_014679.5(CEP57):c.707C>A (p.Thr236Asn)	Inborn genetic diseases [RCV003028108]\|Mosaic variegated aneuploidy syndrome 2 [RCV003012596]	uncertain significance	11	95821878	95821878	Human	2	name
156238767	CV2154624	single nucleotide variant	NM_014679.5(CEP57):c.905C>A (p.Ala302Asp)	Mosaic variegated aneuploidy syndrome 2 [RCV003025926]	uncertain significance	11	95827805	95827805	Human	1	name
156303987	CV2187843	single nucleotide variant	NM_014679.5(CEP57):c.545T>A (p.Val182Asp)	Mosaic variegated aneuploidy syndrome 2 [RCV003062096]	uncertain significance	11	95817827	95817827	Human	1	name
156277434	CV2188432	single nucleotide variant	NM_014679.5(CEP57):c.908T>C (p.Val303Ala)	Inborn genetic diseases [RCV005308904]\|Mosaic variegated aneuploidy syndrome 2 [RCV003044663]	uncertain significance	11	95827808	95827808	Human	2	name
156019201	CV2366897	single nucleotide variant	NM_014679.5(CEP57):c.731T>C (p.Ile244Thr)	Inborn genetic diseases [RCV002998547]	likely benign	11	95821902	95821902	Human	1	name
405021734	CV2854811	single nucleotide variant	NM_014679.5(CEP57):c.998C>T (p.Ala333Val)	Mosaic variegated aneuploidy syndrome 2 [RCV003528560]	uncertain significance	11	95827898	95827898	Human	1	name
405025352	CV2867461	single nucleotide variant	NM_014679.5(CEP57):c.568G>A (p.Asp190Asn)	Mosaic variegated aneuploidy syndrome 2 [RCV003528933]	uncertain significance	11	95817850	95817850	Human	1	name
405025712	CV2868013	single nucleotide variant	NM_014679.5(CEP57):c.341A>G (p.Glu114Gly)	Inborn genetic diseases [RCV005310995]\|Mosaic variegated aneuploidy syndrome 2 [RCV003528965]	uncertain significance	11	95813070	95813070	Human	2	name
405027654	CV2877103	single nucleotide variant	NM_014679.5(CEP57):c.421A>C (p.Asn141His)	Mosaic variegated aneuploidy syndrome 2 [RCV003529122]	uncertain significance	11	95813506	95813506	Human	1	name
405034182	CV2897763	single nucleotide variant	NM_014679.5(CEP57):c.812G>C (p.Ser271Thr)	Mosaic variegated aneuploidy syndrome 2 [RCV003529689]	uncertain significance	11	95822503	95822503	Human	1	name
405035293	CV2903162	duplication	NM_014679.5(CEP57):c.1430dup (p.Asn477fs)	Mosaic variegated aneuploidy syndrome 2 [RCV003529607]	uncertain significance	11	95831177	95831178	Human	1	name
405034953	CV2919172	single nucleotide variant	NM_014679.5(CEP57):c.781A>G (p.Lys261Glu)	Mosaic variegated aneuploidy syndrome 2 [RCV003529755]	uncertain significance	11	95821952	95821952	Human	1	name
405017121	CV2928508	single nucleotide variant	NM_014679.5(CEP57):c.487T>C (p.Ser163Pro)	Mosaic variegated aneuploidy syndrome 2 [RCV003527849]	uncertain significance	11	95813572	95813572	Human	1	name
405195920	CV2975976	single nucleotide variant	NM_014679.5(CEP57):c.402A>C (p.Leu134Phe)	Mosaic variegated aneuploidy syndrome 2 [RCV003641469]	uncertain significance	11	95813487	95813487	Human	1	name
405189382	CV3019945	single nucleotide variant	NM_014679.5(CEP57):c.718A>G (p.Thr240Ala)	Inborn genetic diseases [RCV005311039]\|Mosaic variegated aneuploidy syndrome 2 [RCV003640626]	uncertain significance	11	95821889	95821889	Human	2	name
405189550	CV3027293	single nucleotide variant	NM_014679.5(CEP57):c.505G>A (p.Val169Ile)	Mosaic variegated aneuploidy syndrome 2 [RCV003640646]	uncertain significance	11	95817787	95817787	Human	1	name
405189392	CV3029920	single nucleotide variant	NM_014679.5(CEP57):c.499A>G (p.Lys167Glu)	Mosaic variegated aneuploidy syndrome 2 [RCV003640627]	uncertain significance	11	95813584	95813584	Human	1	name
405199167	CV3055346	single nucleotide variant	NM_014679.5(CEP57):c.784A>C (p.Lys262Gln)	Inborn genetic diseases [RCV004980968]\|Mosaic variegated aneuploidy syndrome 2 [RCV003641943]	uncertain significance	11	95821955	95821955	Human	2	name
405199519	CV3056569	single nucleotide variant	NM_014679.5(CEP57):c.305T>C (p.Ile102Thr)	Inborn genetic diseases [RCV005311050]\|Mosaic variegated aneuploidy syndrome 2 [RCV003641985]	uncertain significance	11	95813034	95813034	Human	2	name
405199540	CV3056629	single nucleotide variant	NM_014679.5(CEP57):c.866T>C (p.Met289Thr)	Mosaic variegated aneuploidy syndrome 2 [RCV003641988]	uncertain significance	11	95822557	95822557	Human	1	name
405200833	CV3066086	single nucleotide variant	NM_014679.5(CEP57):c.381A>C (p.Gln127His)	Mosaic variegated aneuploidy syndrome 2 [RCV003642169]	uncertain significance	11	95813110	95813110	Human	1	name
405201536	CV3079272	single nucleotide variant	NM_014679.5(CEP57):c.605T>A (p.Met202Lys)	Mosaic variegated aneuploidy syndrome 2 [RCV003642255]	uncertain significance	11	95817887	95817887	Human	1	name
405202111	CV3080161	single nucleotide variant	NM_014679.5(CEP57):c.599C>T (p.Thr200Ile)	Mosaic variegated aneuploidy syndrome 2 [RCV003642326]	uncertain significance	11	95817881	95817881	Human	1	name
405232444	CV3157582	single nucleotide variant	NM_014679.5(CEP57):c.424C>A (p.Leu142Ile)	Mosaic variegated aneuploidy syndrome 2 [RCV003865532]	uncertain significance	11	95813509	95813509	Human	1	name
402464265	CV3176997	single nucleotide variant	NM_014679.5(CEP57):c.422A>T (p.Asn141Ile)	Mosaic variegated aneuploidy syndrome 2 [RCV003872628]	uncertain significance	11	95813507	95813507	Human	1	name
405777442	CV3296960	single nucleotide variant	NM_014679.5(CEP57):c.462A>G (p.Ile154Met)	Inborn genetic diseases [RCV004436353]	uncertain significance	11	95813547	95813547	Human	1	name
405777448	CV3296961	single nucleotide variant	NM_014679.5(CEP57):c.496G>C (p.Glu166Gln)	Inborn genetic diseases [RCV004436354]	uncertain significance	11	95813581	95813581	Human	1	name
597656296	CV3652949	single nucleotide variant	NM_014679.5(CEP57):c.805A>G (p.Lys269Glu)	Inborn genetic diseases [RCV004976496]\|Mosaic variegated aneuploidy syndrome 2 [RCV005061667]	uncertain significance	11	95821976	95821976	Human	2	name
597656301	CV3652950	single nucleotide variant	NM_014679.5(CEP57):c.907G>A (p.Val303Met)	Inborn genetic diseases [RCV004976497]\|Mosaic variegated aneuploidy syndrome 2 [RCV005110105]	uncertain significance	11	95827807	95827807	Human	2	name
597656312	CV3652953	single nucleotide variant	NM_014679.5(CEP57):c.721A>G (p.Asn241Asp)	Inborn genetic diseases [RCV004976499]	uncertain significance	11	95821892	95821892	Human	1	name
597656317	CV3652956	single nucleotide variant	NM_014679.5(CEP57):c.448A>G (p.Met150Val)	Inborn genetic diseases [RCV004976500]	uncertain significance	11	95813533	95813533	Human	1	name
597656335	CV3652960	single nucleotide variant	NM_014679.5(CEP57):c.527A>G (p.Gln176Arg)	Inborn genetic diseases [RCV004976503]	uncertain significance	11	95817809	95817809	Human	1	name
597656352	CV3652965	single nucleotide variant	NM_014679.5(CEP57):c.431A>G (p.Glu144Gly)	Inborn genetic diseases [RCV004976506]	uncertain significance	11	95813516	95813516	Human	1	name
597631761	CV3652967	single nucleotide variant	NM_014679.5(CEP57):c.940A>T (p.Met314Leu)	Inborn genetic diseases [RCV004967797]	uncertain significance	11	95827840	95827840	Human	1	name
597656357	CV3652969	single nucleotide variant	NM_014679.5(CEP57):c.635A>T (p.Glu212Val)	Inborn genetic diseases [RCV004976507]	uncertain significance	11	95818840	95818840	Human	1	name
597656370	CV3652971	single nucleotide variant	NM_014679.5(CEP57):c.979A>T (p.Ile327Phe)	Inborn genetic diseases [RCV004976509]	uncertain significance	11	95827879	95827879	Human	1	name
597656398	CV3652976	single nucleotide variant	NM_014679.5(CEP57):c.974G>T (p.Arg325Leu)	Inborn genetic diseases [RCV004976513]	uncertain significance	11	95827874	95827874	Human	1	name
597669759	CV3707045	single nucleotide variant	NM_014679.5(CEP57):c.973C>T (p.Arg325Ter)	Mosaic variegated aneuploidy syndrome 2 [RCV005004753]	pathogenic	11	95827873	95827873	Human	1	name
597830835	CV3743566	single nucleotide variant	NM_014679.5(CEP57):c.557T>C (p.Leu186Pro)	Inborn genetic diseases [RCV005311167]\|Mosaic variegated aneuploidy syndrome 2 [RCV005062383]	uncertain significance	11	95817839	95817839	Human	2	name
597858841	CV3748311	single nucleotide variant	NM_014679.5(CEP57):c.365A>T (p.Glu122Val)	Mosaic variegated aneuploidy syndrome 2 [RCV005067133]	uncertain significance	11	95813094	95813094	Human	1	name
597961149	CV3753179	single nucleotide variant	NM_014679.5(CEP57):c.727C>G (p.Leu243Val)	Inborn genetic diseases [RCV005323714]\|Mosaic variegated aneuploidy syndrome 2 [RCV005081679]	uncertain significance	11	95821898	95821898	Human	2	name
597894864	CV3773370	single nucleotide variant	NM_014679.5(CEP57):c.766G>C (p.Ala256Pro)	Mosaic variegated aneuploidy syndrome 2 [RCV005111277]	uncertain significance	11	95821937	95821937	Human	1	name
597963533	CV3791980	single nucleotide variant	NM_014679.5(CEP57):c.721A>C (p.Asn241His)	Mosaic variegated aneuploidy syndrome 2 [RCV005139536]	uncertain significance	11	95821892	95821892	Human	1	name
597960340	CV3798030	single nucleotide variant	NM_014679.5(CEP57):c.968A>T (p.Asn323Ile)	Mosaic variegated aneuploidy syndrome 2 [RCV005138504]	uncertain significance	11	95827868	95827868	Human	1	name
597869650	CV3803509	single nucleotide variant	NM_014679.5(CEP57):c.376A>G (p.Asn126Asp)	Mosaic variegated aneuploidy syndrome 2 [RCV005148107]	uncertain significance	11	95813105	95813105	Human	1	name
597915662	CV3814570	single nucleotide variant	NM_014679.5(CEP57):c.869C>T (p.Pro290Leu)	Mosaic variegated aneuploidy syndrome 2 [RCV005154885]	uncertain significance	11	95822560	95822560	Human	1	name
597859207	CV3817122	single nucleotide variant	NM_014679.5(CEP57):c.901C>T (p.His301Tyr)	Mosaic variegated aneuploidy syndrome 2 [RCV005146503]	uncertain significance	11	95827801	95827801	Human	1	name
597870442	CV3835523	single nucleotide variant	NM_014679.5(CEP57):c.378T>G (p.Asn126Lys)	Mosaic variegated aneuploidy syndrome 2 [RCV005176515]	uncertain significance	11	95813107	95813107	Human	1	name
597887680	CV3839024	single nucleotide variant	NM_014679.5(CEP57):c.790T>A (p.Ser264Thr)	Mosaic variegated aneuploidy syndrome 2 [RCV005179109]	uncertain significance	11	95821961	95821961	Human	1	name
597915877	CV3845668	single nucleotide variant	NM_014679.5(CEP57):c.372G>T (p.Lys124Asn)	Inborn genetic diseases [RCV005311207]\|Mosaic variegated aneuploidy syndrome 2 [RCV005183463]	uncertain significance	11	95813101	95813101	Human	2	name
597938944	CV3852939	single nucleotide variant	NM_014679.5(CEP57):c.589A>G (p.Asn197Asp)	Inborn genetic diseases [RCV005311218]\|Mosaic variegated aneuploidy syndrome 2 [RCV005187340]	uncertain significance	11	95817871	95817871	Human	2	name
597907369	CV3853563	single nucleotide variant	NM_014679.5(CEP57):c.957A>C (p.Lys319Asn)	Mosaic variegated aneuploidy syndrome 2 [RCV005203042]	uncertain significance	11	95827857	95827857	Human	1	name
598209456	CV3947869	single nucleotide variant	NM_014679.5(CEP57):c.415A>G (p.Lys139Glu)	Inborn genetic diseases [RCV005315693]	uncertain significance	11	95813500	95813500	Human	1	name
598209489	CV3947881	single nucleotide variant	NM_014679.5(CEP57):c.748A>T (p.Thr250Ser)	Inborn genetic diseases [RCV005315702]	uncertain significance	11	95821919	95821919	Human	1	name
598241885	CV3947888	single nucleotide variant	NM_014679.5(CEP57):c.874G>A (p.Val292Ile)	Inborn genetic diseases [RCV005321624]	uncertain significance	11	95822565	95822565	Human	1	name
598241891	CV3947893	single nucleotide variant	NM_014679.5(CEP57):c.556C>T (p.Leu186Phe)	Inborn genetic diseases [RCV005321626]	uncertain significance	11	95817838	95817838	Human	1	name
598209524	CV3947896	single nucleotide variant	NM_014679.5(CEP57):c.556C>G (p.Leu186Val)	Inborn genetic diseases [RCV005315710]	uncertain significance	11	95817838	95817838	Human	1	name
598241898	CV3947897	single nucleotide variant	NM_014679.5(CEP57):c.793A>G (p.Lys265Glu)	Inborn genetic diseases [RCV005321628]	uncertain significance	11	95821964	95821964	Human	1	name
598209527	CV3947898	single nucleotide variant	NM_014679.5(CEP57):c.473A>G (p.Glu158Gly)	Inborn genetic diseases [RCV005315711]	uncertain significance	11	95813558	95813558	Human	1	name
598209540	CV3947902	single nucleotide variant	NM_014679.5(CEP57):c.665A>T (p.Gln222Leu)	Inborn genetic diseases [RCV005315714]	uncertain significance	11	95818870	95818870	Human	1	name
598209545	CV3947903	single nucleotide variant	NM_014679.5(CEP57):c.355A>C (p.Lys119Gln)	Inborn genetic diseases [RCV005315715]	uncertain significance	11	95813084	95813084	Human	1	name
598241917	CV3947908	single nucleotide variant	NM_014679.5(CEP57):c.344G>A (p.Arg115Lys)	Inborn genetic diseases [RCV005321632]	uncertain significance	11	95813073	95813073	Human	1	name
598209588	CV3947913	single nucleotide variant	NM_014679.5(CEP57):c.493T>G (p.Leu165Val)	Inborn genetic diseases [RCV005315722]	uncertain significance	11	95813578	95813578	Human	1	name
598209592	CV3947914	single nucleotide variant	NM_014679.5(CEP57):c.641A>C (p.Glu214Ala)	Inborn genetic diseases [RCV005315723]	uncertain significance	11	95818846	95818846	Human	1	name
598241930	CV3947921	single nucleotide variant	NM_014679.5(CEP57):c.903T>A (p.His301Gln)	Inborn genetic diseases [RCV005321635]	uncertain significance	11	95827803	95827803	Human	1	name
598209643	CV3947929	single nucleotide variant	NM_014679.5(CEP57):c.556C>A (p.Leu186Ile)	Inborn genetic diseases [RCV005315732]	uncertain significance	11	95817838	95817838	Human	1	name
598209654	CV3947932	single nucleotide variant	NM_014679.5(CEP57):c.419G>A (p.Cys140Tyr)	Inborn genetic diseases [RCV005315734]	uncertain significance	11	95813504	95813504	Human	1	name
598209665	CV3947935	single nucleotide variant	NM_014679.5(CEP57):c.844T>G (p.Tyr282Asp)	Inborn genetic diseases [RCV005315736]	uncertain significance	11	95822535	95822535	Human	1	name
598209675	CV3947937	single nucleotide variant	NM_014679.5(CEP57):c.889A>T (p.Thr297Ser)	Inborn genetic diseases [RCV005315738]	uncertain significance	11	95827789	95827789	Human	1	name
598209704	CV3947942	single nucleotide variant	NM_014679.5(CEP57):c.388A>G (p.Thr130Ala)	Inborn genetic diseases [RCV005315743]	uncertain significance	11	95813473	95813473	Human	1	name
598209719	CV3947945	single nucleotide variant	NM_014679.5(CEP57):c.561A>T (p.Glu187Asp)	Inborn genetic diseases [RCV005315746]	uncertain significance	11	95817843	95817843	Human	1	name
598209731	CV3947947	single nucleotide variant	NM_014679.5(CEP57):c.986G>C (p.Ser329Thr)	Inborn genetic diseases [RCV005315748]	uncertain significance	11	95827886	95827886	Human	1	name
598209759	CV3947952	single nucleotide variant	NM_014679.5(CEP57):c.457A>G (p.Met153Val)	Inborn genetic diseases [RCV005315753]	uncertain significance	11	95813542	95813542	Human	1	name
598209781	CV3947956	single nucleotide variant	NM_014679.5(CEP57):c.554A>C (p.Gln185Pro)	Inborn genetic diseases [RCV005315757]	uncertain significance	11	95817836	95817836	Human	1	name
598209786	CV3947957	single nucleotide variant	NM_014679.5(CEP57):c.682C>A (p.Gln228Lys)	Inborn genetic diseases [RCV005315758]	uncertain significance	11	95818887	95818887	Human	1	name
598209815	CV3947963	single nucleotide variant	NM_014679.5(CEP57):c.516A>C (p.Glu172Asp)	Inborn genetic diseases [RCV005315763]	uncertain significance	11	95817798	95817798	Human	1	name
12883319	CV398390	single nucleotide variant	NM_014679.5(CEP57):c.572T>A (p.Leu191His)	Inborn genetic diseases [RCV004965474]\|Mosaic variegated aneuploidy syndrome 2 [RCV000461384]\|not provided [RCV003237867]	uncertain significance	11	95817854	95817854	Human	2	name
12888433	CV398786	single nucleotide variant	NM_014679.5(CEP57):c.333G>C (p.Gln111His)	Mosaic variegated aneuploidy syndrome 2 [RCV000470895]\|not provided [RCV003222001]\|not specified [RCV001355036]	benign\|likely benign	11	95813062	95813062	Human	1	name
12886950	CV398929	single nucleotide variant	NM_014679.5(CEP57):c.520G>C (p.Glu174Gln)	Mosaic variegated aneuploidy syndrome 2 [RCV000468184]	uncertain significance	11	95817802	95817802	Human	1	name
12884004	CV398932	single nucleotide variant	NM_014679.5(CEP57):c.979A>G (p.Ile327Val)	Mosaic variegated aneuploidy syndrome 2 [RCV000462676]\|not provided [RCV004708918]	benign	11	95827879	95827879	Human	1	name
13502389	CV461722	single nucleotide variant	NM_014679.5(CEP57):c.422A>G (p.Asn141Ser)	Inborn genetic diseases [RCV003258870]\|Mosaic variegated aneuploidy syndrome 2 [RCV000541957]	uncertain significance	11	95813507	95813507	Human	2	name
13489519	CV461724	single nucleotide variant	NM_014679.5(CEP57):c.917A>G (p.Asn306Ser)	Inborn genetic diseases [RCV005306076]\|Mosaic variegated aneuploidy syndrome 2 [RCV000555389]	uncertain significance	11	95827817	95827817	Human	2	name
13504241	CV462036	single nucleotide variant	NM_014679.5(CEP57):c.677G>A (p.Arg226His)	CEP57-related disorder [RCV003935493]\|Inborn genetic diseases [RCV004975665]\|Mosaic variegated aneuploidy syndrome 2 [RCV000525894]	benign\|likely benign\|conflicting interpretations of pathogenicity	11	95818882	95818882	Human	2	name , trait , alternate_id
13486748	CV462037	single nucleotide variant	NM_014679.5(CEP57):c.925C>T (p.Leu309Phe)	Mosaic variegated aneuploidy syndrome 2 [RCV000531423]	likely benign	11	95827825	95827825	Human	1	name
13497118	CV462355	single nucleotide variant	NM_014679.5(CEP57):c.751C>T (p.Pro251Ser)	Inborn genetic diseases [RCV004975666]\|Mosaic variegated aneuploidy syndrome 2 [RCV000538321]	likely benign\|uncertain significance	11	95821922	95821922	Human	2	name
13622107	CV526539	single nucleotide variant	NM_014679.5(CEP57):c.373C>T (p.His125Tyr)	Inborn genetic diseases [RCV004972810]\|Mosaic variegated aneuploidy syndrome 2 [RCV000649344]	uncertain significance	11	95813102	95813102	Human	2	name
13622110	CV526546	single nucleotide variant	NM_014679.5(CEP57):c.448A>T (p.Met150Leu)	Mosaic variegated aneuploidy syndrome 2 [RCV000649347]	uncertain significance	11	95813533	95813533	Human	1	name
13622105	CV526550	single nucleotide variant	NM_014679.5(CEP57):c.787A>C (p.Lys263Gln)	Mosaic variegated aneuploidy syndrome 2 [RCV000649342]	uncertain significance	11	95821958	95821958	Human	1	name
13622102	CV526585	single nucleotide variant	NM_014679.5(CEP57):c.503A>T (p.Gln168Leu)	Mosaic variegated aneuploidy syndrome 2 [RCV000649339]	uncertain significance	11	95813588	95813588	Human	1	name
13622111	CV526808	single nucleotide variant	NM_014679.5(CEP57):c.926T>G (p.Leu309Arg)	Inborn genetic diseases [RCV004972811]\|Mosaic variegated aneuploidy syndrome 2 [RCV000649348]	uncertain significance	11	95827826	95827826	Human	2	name
13810700	CV571050	single nucleotide variant	NM_014679.5(CEP57):c.949C>T (p.His317Tyr)	Mosaic variegated aneuploidy syndrome 2 [RCV000702698]	uncertain significance	11	95827849	95827849	Human	1	name
14711434	CV640527	single nucleotide variant	NM_014679.5(CEP57):c.366A>C (p.Glu122Asp)	Inborn genetic diseases [RCV004972948]\|Mosaic variegated aneuploidy syndrome 2 [RCV000793450]	uncertain significance	11	95813095	95813095	Human	2	name
14722425	CV640528	single nucleotide variant	NM_014679.5(CEP57):c.451C>T (p.Arg151Ter)	Mosaic variegated aneuploidy syndrome 2 [RCV000797548]	pathogenic	11	95813536	95813536	Human	1	name
14743581	CV640529	single nucleotide variant	NM_014679.5(CEP57):c.458T>C (p.Met153Thr)	Inborn genetic diseases [RCV004962866]\|Mosaic variegated aneuploidy syndrome 2 [RCV000823529]	uncertain significance	11	95813543	95813543	Human	2	name
14712240	CV640530	single nucleotide variant	NM_014679.5(CEP57):c.670A>G (p.Arg224Gly)	Inborn genetic diseases [RCV004972949]\|Mosaic variegated aneuploidy syndrome 2 [RCV000793736]	uncertain significance	11	95818875	95818875	Human	2	name
14741570	CV640531	single nucleotide variant	NM_014679.5(CEP57):c.701T>G (p.Leu234Trp)	Inborn genetic diseases [RCV005306161]\|Mosaic variegated aneuploidy syndrome 2 [RCV000805836]	uncertain significance	11	95821872	95821872	Human	2	name
15128566	CV684269	single nucleotide variant	NM_014679.5(CEP57):c.764A>G (p.Asn255Ser)	CEP57-related disorder [RCV003955597]\|Inborn genetic diseases [RCV004973043]\|Mosaic variegated aneuploidy syndrome 2 [RCV000863097]	likely benign\|conflicting interpretations of pathogenicity	11	95821935	95821935	Human	2	name , trait , alternate_id
15153229	CV687836	single nucleotide variant	NM_014679.5(CEP57):c.985A>G (p.Ser329Gly)	Mosaic variegated aneuploidy syndrome 2 [RCV000867602]	likely benign	11	95827885	95827885	Human	1	name
26890175	CV839180	single nucleotide variant	NM_014679.5(CEP57):c.335T>A (p.Ile112Lys)	Mosaic variegated aneuploidy syndrome 2 [RCV001067749]	uncertain significance	11	95813064	95813064	Human	1	name
26891476	CV839181	single nucleotide variant	NM_014679.5(CEP57):c.723T>G (p.Asn241Lys)	Inborn genetic diseases [RCV005306270]\|Mosaic variegated aneuploidy syndrome 2 [RCV001068270]\|not provided [RCV001760045]	uncertain significance	11	95821894	95821894	Human	2	name
26893460	CV839182	single nucleotide variant	NM_014679.5(CEP57):c.746C>T (p.Ala249Val)	Mosaic variegated aneuploidy syndrome 2 [RCV001069045]	uncertain significance	11	95821917	95821917	Human	1	name
26915300	CV839183	single nucleotide variant	NM_014679.5(CEP57):c.833C>T (p.Ala278Val)	Inborn genetic diseases [RCV005306230]\|Mosaic variegated aneuploidy syndrome 2 [RCV001041245]	uncertain significance	11	95822524	95822524	Human	2	name
26897548	CV839184	single nucleotide variant	NM_014679.5(CEP57):c.918T>A (p.Asn306Lys)	Mosaic variegated aneuploidy syndrome 2 [RCV001070356]	uncertain significance	11	95827818	95827818	Human	1	name
38488303	CV926420	single nucleotide variant	NM_014679.5(CEP57):c.478G>A (p.Glu160Lys)	Inborn genetic diseases [RCV004978132]\|Mosaic variegated aneuploidy syndrome 2 [RCV001221155]	uncertain significance	11	95813563	95813563	Human	2	name
38474940	CV926421	single nucleotide variant	NM_014679.5(CEP57):c.542A>G (p.His181Arg)	Inborn genetic diseases [RCV004978118]\|Mosaic variegated aneuploidy syndrome 2 [RCV001214958]	uncertain significance	11	95817824	95817824	Human	2	name
38477530	CV926422	single nucleotide variant	NM_014679.5(CEP57):c.552C>A (p.Ser184Arg)	Inborn genetic diseases [RCV005306320]\|Mosaic variegated aneuploidy syndrome 2 [RCV001216182]	uncertain significance	11	95817834	95817834	Human	2	name
38478604	CV926423	single nucleotide variant	NM_014679.5(CEP57):c.559G>A (p.Glu187Lys)	Inborn genetic diseases [RCV004963220]\|Mosaic variegated aneuploidy syndrome 2 [RCV001216680]	uncertain significance	11	95817841	95817841	Human	2	name
38492239	CV926424	single nucleotide variant	NM_014679.5(CEP57):c.575T>C (p.Leu192Pro)	Inborn genetic diseases [RCV003294070]\|Mosaic variegated aneuploidy syndrome 2 [RCV001223441]	uncertain significance	11	95817857	95817857	Human	2	name
38479571	CV935862	single nucleotide variant	NM_014679.5(CEP57):c.304A>G (p.Ile102Val)	Inborn genetic diseases [RCV004033663]\|Mosaic variegated aneuploidy syndrome 2 [RCV001206033]	uncertain significance	11	95813033	95813033	Human	2	name
38476598	CV935863	single nucleotide variant	NM_014679.5(CEP57):c.581A>G (p.Gln194Arg)	Mosaic variegated aneuploidy syndrome 2 [RCV001204759]	uncertain significance	11	95817863	95817863	Human	1	name
38478253	CV935864	single nucleotide variant	NM_014679.5(CEP57):c.778A>T (p.Lys260Ter)	Mosaic variegated aneuploidy syndrome 2 [RCV001205462]	pathogenic	11	95821949	95821949	Human	1	name
38472338	CV935865	single nucleotide variant	NM_014679.5(CEP57):c.841C>T (p.His281Tyr)	Mosaic variegated aneuploidy syndrome 2 [RCV001214046]	uncertain significance	11	95822532	95822532	Human	1	name
38487677	CV935867	single nucleotide variant	NM_014679.5(CEP57):c.896C>G (p.Pro299Arg)	Inborn genetic diseases [RCV004033773]\|Mosaic variegated aneuploidy syndrome 2 [RCV001209416]	uncertain significance	11	95827796	95827796	Human	2	name
38484806	CV935874	duplication	NM_014679.5(CEP57):c.1286dup (p.Leu430fs)	Mosaic variegated aneuploidy syndrome 2 [RCV001208203]	uncertain significance	11	95831037	95831038	Human	1	name
38497618	CV947736	single nucleotide variant	NM_014679.5(CEP57):c.365A>C (p.Glu122Ala)	Inborn genetic diseases [RCV005318667]\|Mosaic variegated aneuploidy syndrome 2 [RCV001227202]	uncertain significance	11	95813094	95813094	Human	2	name
38483981	CV947737	single nucleotide variant	NM_014679.5(CEP57):c.410A>C (p.Glu137Ala)	Inborn genetic diseases [RCV002567904]\|Mosaic variegated aneuploidy syndrome 2 [RCV001236157]	uncertain significance	11	95813495	95813495	Human	2	name
38498066	CV947738	single nucleotide variant	NM_014679.5(CEP57):c.440T>C (p.Leu147Ser)	Inborn genetic diseases [RCV003163769]\|Mosaic variegated aneuploidy syndrome 2 [RCV001227376]	uncertain significance	11	95813525	95813525	Human	2	name
38475148	CV947740	single nucleotide variant	NM_014679.5(CEP57):c.524G>A (p.Arg175Gln)	Inborn genetic diseases [RCV004609687]\|Mosaic variegated aneuploidy syndrome 2 [RCV001232498]	uncertain significance	11	95817806	95817806	Human	2	name
38496301	CV947741	single nucleotide variant	NM_014679.5(CEP57):c.626A>C (p.Lys209Thr)	Mosaic variegated aneuploidy syndrome 2 [RCV001226300]	uncertain significance	11	95818831	95818831	Human	1	name
38460828	CV947742	single nucleotide variant	NM_014679.5(CEP57):c.680T>C (p.Met227Thr)	Mosaic variegated aneuploidy syndrome 2 [RCV001229421]	uncertain significance	11	95818885	95818885	Human	1	name
38469681	CV947743	single nucleotide variant	NM_014679.5(CEP57):c.824A>G (p.Tyr275Cys)	Inborn genetic diseases [RCV005318673]\|Mosaic variegated aneuploidy syndrome 2 [RCV001230813]	uncertain significance	11	95822515	95822515	Human	2	name
126733990	CV986028	single nucleotide variant	NM_014679.5(CEP57):c.896C>A (p.Pro299His)	Inborn genetic diseases [RCV004978243]\|Mosaic variegated aneuploidy syndrome 2 [RCV001294116]	uncertain significance	11	95827796	95827796	Human	2	name
126744518	CV994850	single nucleotide variant	NM_014679.5(CEP57):c.444A>C (p.Glu148Asp)	Inborn genetic diseases [RCV004978251]\|Mosaic variegated aneuploidy syndrome 2 [RCV001296714]	uncertain significance	11	95813529	95813529	Human	2	name
126767505	CV994851	single nucleotide variant	NM_014679.5(CEP57):c.550A>G (p.Ser184Gly)	Mosaic variegated aneuploidy syndrome 2 [RCV001302308]	uncertain significance	11	95817832	95817832	Human	1	name
126773624	CV1010061	single nucleotide variant	NM_014679.5(CEP57):c.1084G>A (p.Glu362Lys)	Inborn genetic diseases [RCV005318744]\|Mosaic variegated aneuploidy syndrome 2 [RCV001324438]	uncertain significance	11	95827984	95827984	Human	2	name
126726269	CV1017543	single nucleotide variant	NM_014679.5(CEP57):c.1015C>T (p.Arg339Ter)	Mosaic variegated aneuploidy syndrome 2 [RCV001331873]	pathogenic	11	95827915	95827915	Human	1	name
126725448	CV1030599	single nucleotide variant	NM_014679.5(CEP57):c.1306G>C (p.Glu436Gln)	Inborn genetic diseases [RCV004978387]\|Mosaic variegated aneuploidy syndrome 2 [RCV001348156]	uncertain significance	11	95831059	95831059	Human	2	name
126751810	CV1030600	single nucleotide variant	NM_014679.5(CEP57):c.1466A>G (p.Asn489Ser)	Mosaic variegated aneuploidy syndrome 2 [RCV001338313]	uncertain significance	11	95831219	95831219	Human	1	name
126919794	CV1047616	single nucleotide variant	NM_014679.5(CEP57):c.1163C>T (p.Ser388Leu)	Inborn genetic diseases [RCV004980371]\|Mosaic variegated aneuploidy syndrome 2 [RCV001362499]	uncertain significance	11	95829222	95829222	Human	2	name
151891036	CV1344536	single nucleotide variant	NM_014679.5(CEP57):c.1231A>G (p.Lys411Glu)	Mosaic variegated aneuploidy syndrome 2 [RCV001943219]	uncertain significance	11	95829290	95829290	Human	1	name
151768850	CV1367563	single nucleotide variant	NM_014679.5(CEP57):c.1029T>A (p.Ser343Arg)	Inborn genetic diseases [RCV004039625]\|Mosaic variegated aneuploidy syndrome 2 [RCV001863881]	uncertain significance	11	95827929	95827929	Human	2	name
151804702	CV1371859	single nucleotide variant	NM_014679.5(CEP57):c.1174G>A (p.Glu392Lys)	Inborn genetic diseases [RCV005308622]\|Mosaic variegated aneuploidy syndrome 2 [RCV001953248]	uncertain significance	11	95829233	95829233	Human	2	name
151805159	CV1371933	single nucleotide variant	NM_014679.5(CEP57):c.1256G>A (p.Arg419Gln)	Inborn genetic diseases [RCV004975953]\|Mosaic variegated aneuploidy syndrome 2 [RCV001953291]	uncertain significance	11	95829315	95829315	Human	2	name
151876685	CV1372932	single nucleotide variant	NM_014679.5(CEP57):c.1415A>G (p.Glu472Gly)	Inborn genetic diseases [RCV005308666]\|Mosaic variegated aneuploidy syndrome 2 [RCV002019625]	uncertain significance	11	95831168	95831168	Human	2	name
151741519	CV1386673	single nucleotide variant	NM_014679.5(CEP57):c.1354A>C (p.Ser452Arg)	Inborn genetic diseases [RCV005308560]\|Mosaic variegated aneuploidy syndrome 2 [RCV001893311]	uncertain significance	11	95831107	95831107	Human	2	name
151854131	CV1390769	single nucleotide variant	NM_014679.5(CEP57):c.1334A>G (p.Asp445Gly)	Inborn genetic diseases [RCV004975969]\|Mosaic variegated aneuploidy syndrome 2 [RCV001958382]	uncertain significance	11	95831087	95831087	Human	2	name
151834723	CV1394257	single nucleotide variant	NM_014679.5(CEP57):c.1212A>C (p.Leu404Phe)	Mosaic variegated aneuploidy syndrome 2 [RCV002051082]	uncertain significance	11	95829271	95829271	Human	1	name
151772082	CV1402602	single nucleotide variant	NM_014679.5(CEP57):c.1364G>A (p.Gly455Glu)	Inborn genetic diseases [RCV004975794]\|Mosaic variegated aneuploidy syndrome 2 [RCV001896437]	uncertain significance	11	95831117	95831117	Human	2	name
151835032	CV1420079	single nucleotide variant	NM_014679.5(CEP57):c.1000A>G (p.Lys334Glu)	Mosaic variegated aneuploidy syndrome 2 [RCV001977044]	uncertain significance	11	95827900	95827900	Human	1	name
151723886	CV1436941	single nucleotide variant	NM_014679.5(CEP57):c.1009T>C (p.Ser337Pro)	Inborn genetic diseases [RCV004976142]\|Mosaic variegated aneuploidy syndrome 2 [RCV002004028]	uncertain significance	11	95827909	95827909	Human	2	name
151880625	CV1437038	single nucleotide variant	NM_014679.5(CEP57):c.1488G>C (p.Leu496Phe)	Inborn genetic diseases [RCV004976143]\|Mosaic variegated aneuploidy syndrome 2 [RCV001999515]	uncertain significance	11	95831241	95831241	Human	2	name
151729663	CV1440945	single nucleotide variant	NM_014679.5(CEP57):c.1187A>G (p.Lys396Arg)	Mosaic variegated aneuploidy syndrome 2 [RCV001945909]	uncertain significance	11	95829246	95829246	Human	1	name
151862831	CV1449035	single nucleotide variant	NM_014679.5(CEP57):c.1208C>T (p.Ala403Val)	Mosaic variegated aneuploidy syndrome 2 [RCV001959443]	uncertain significance	11	95829267	95829267	Human	1	name
151802906	CV1462447	single nucleotide variant	NM_014679.5(CEP57):c.1339G>A (p.Glu447Lys)	Inborn genetic diseases [RCV004045467]\|Mosaic variegated aneuploidy syndrome 2 [RCV002028265]	uncertain significance	11	95831092	95831092	Human	2	name
151800407	CV1494171	single nucleotide variant	NM_014679.5(CEP57):c.1171G>A (p.Val391Ile)	Mosaic variegated aneuploidy syndrome 2 [RCV001952870]	uncertain significance	11	95829230	95829230	Human	1	name
151855395	CV1504775	single nucleotide variant	NM_014679.5(CEP57):c.1282C>G (p.Gln428Glu)	Inborn genetic diseases [RCV005308649]\|Mosaic variegated aneuploidy syndrome 2 [RCV002033705]	uncertain significance	11	95831035	95831035	Human	2	name
155945378	CV1911258	single nucleotide variant	NM_014679.5(CEP57):c.1267G>A (p.Ala423Thr)	Inborn genetic diseases [RCV005310929]\|Mosaic variegated aneuploidy syndrome 2 [RCV002615899]	uncertain significance	11	95829326	95829326	Human	2	name
156279000	CV1912053	single nucleotide variant	NM_014679.5(CEP57):c.1165C>G (p.Pro389Ala)	Mosaic variegated aneuploidy syndrome 2 [RCV002628362]	uncertain significance	11	95829224	95829224	Human	1	name
156040200	CV1929531	single nucleotide variant	NM_014679.5(CEP57):c.1358G>A (p.Arg453His)	Inborn genetic diseases [RCV004963509]\|Mosaic variegated aneuploidy syndrome 2 [RCV002637543]	uncertain significance	11	95831111	95831111	Human	2	name
156225579	CV2006000	single nucleotide variant	NM_014679.5(CEP57):c.1396A>G (p.Met466Val)	Mosaic variegated aneuploidy syndrome 2 [RCV002667388]	uncertain significance	11	95831149	95831149	Human	1	name
155986808	CV2030509	single nucleotide variant	NM_014679.5(CEP57):c.1003C>G (p.Gln335Glu)	Mosaic variegated aneuploidy syndrome 2 [RCV002755574]	uncertain significance	11	95827903	95827903	Human	1	name
156122701	CV2052397	single nucleotide variant	NM_014679.5(CEP57):c.1363G>A (p.Gly455Arg)	Mosaic variegated aneuploidy syndrome 2 [RCV002825364]	uncertain significance	11	95831116	95831116	Human	1	name
156229888	CV2111911	single nucleotide variant	NM_014679.5(CEP57):c.1068T>G (p.Ile356Met)	Mosaic variegated aneuploidy syndrome 2 [RCV002918895]	uncertain significance	11	95827968	95827968	Human	1	name
155967273	CV2131201	single nucleotide variant	NM_014679.5(CEP57):c.1331T>C (p.Leu444Pro)	Inborn genetic diseases [RCV004978427]\|Mosaic variegated aneuploidy syndrome 2 [RCV002972677]	uncertain significance	11	95831084	95831084	Human	2	name
156085479	CV2138483	single nucleotide variant	NM_014679.5(CEP57):c.1406G>A (p.Arg469Lys)	Inborn genetic diseases [RCV003170785]\|Mosaic variegated aneuploidy syndrome 2 [RCV002979410]	uncertain significance	11	95831159	95831159	Human	2	name
156150843	CV2197803	single nucleotide variant	NM_014679.5(CEP57):c.1033A>C (p.Lys345Gln)	Inborn genetic diseases [RCV002641851]	uncertain significance	11	95827933	95827933	Human	1	name
156023601	CV2233507	single nucleotide variant	NM_014679.5(CEP57):c.1488G>T (p.Leu496Phe)	Inborn genetic diseases [RCV002757518]	uncertain significance	11	95831241	95831241	Human	1	name
156295662	CV2239763	single nucleotide variant	NM_014679.5(CEP57):c.1147A>G (p.Lys383Glu)	Inborn genetic diseases [RCV002807672]\|Mosaic variegated aneuploidy syndrome 2 [RCV003528433]	uncertain significance	11	95829206	95829206	Human	2	name
156013461	CV2300436	single nucleotide variant	NM_014679.5(CEP57):c.1234G>A (p.Ala412Thr)	Inborn genetic diseases [RCV002884324]\|Mosaic variegated aneuploidy syndrome 2 [RCV003641058]	uncertain significance	11	95829293	95829293	Human	2	name
329392845	CV2468995	single nucleotide variant	NM_014679.5(CEP57):c.1211T>C (p.Leu404Ser)	Inborn genetic diseases [RCV003217980]	uncertain significance	11	95829270	95829270	Human	1	name
405028238	CV2887878	single nucleotide variant	NM_014679.5(CEP57):c.1387A>G (p.Lys463Glu)	Inborn genetic diseases [RCV005310998]\|Mosaic variegated aneuploidy syndrome 2 [RCV003529169]	uncertain significance	11	95831140	95831140	Human	2	name
405187735	CV3009562	single nucleotide variant	NM_014679.5(CEP57):c.1459A>G (p.Ile487Val)	Mosaic variegated aneuploidy syndrome 2 [RCV003640433]	uncertain significance	11	95831212	95831212	Human	1	name
405188685	CV3021796	single nucleotide variant	NM_014679.5(CEP57):c.1255C>T (p.Arg419Ter)	Mosaic variegated aneuploidy syndrome 2 [RCV003640546]	uncertain significance	11	95829314	95829314	Human	1	name
405201658	CV3073884	single nucleotide variant	NM_014679.5(CEP57):c.1263C>A (p.Tyr421Ter)	Mosaic variegated aneuploidy syndrome 2 [RCV003642270]	uncertain significance	11	95829322	95829322	Human	1	name
405181999	CV3159575	single nucleotide variant	NM_014679.5(CEP57):c.1463A>G (p.Gln488Arg)	Mosaic variegated aneuploidy syndrome 2 [RCV003858826]	uncertain significance	11	95831216	95831216	Human	1	name
405233279	CV3168004	single nucleotide variant	NM_014679.5(CEP57):c.1296G>C (p.Lys432Asn)	Mosaic variegated aneuploidy syndrome 2 [RCV003865672]	uncertain significance	11	95831049	95831049	Human	1	name
402472859	CV3172057	single nucleotide variant	NM_014679.5(CEP57):c.1301A>C (p.Lys434Thr)	Mosaic variegated aneuploidy syndrome 2 [RCV003874660]	uncertain significance	11	95831054	95831054	Human	1	name
405777434	CV3296959	single nucleotide variant	NM_014679.5(CEP57):c.1326G>C (p.Lys442Asn)	Inborn genetic diseases [RCV004436352]	uncertain significance	11	95831079	95831079	Human	1	name
407469282	CV3428985	single nucleotide variant	NM_014679.5(CEP57):c.1490G>A (p.Cys497Tyr)	Inborn genetic diseases [RCV004614983]	uncertain significance	11	95831243	95831243	Human	1	name
597631749	CV3652943	single nucleotide variant	NM_014679.5(CEP57):c.1357C>A (p.Arg453Ser)	Inborn genetic diseases [RCV004967793]	uncertain significance	11	95831110	95831110	Human	1	name
597656279	CV3652945	single nucleotide variant	NM_014679.5(CEP57):c.1361C>G (p.Ser454Cys)	Inborn genetic diseases [RCV004976493]	uncertain significance	11	95831114	95831114	Human	1	name
597631753	CV3652955	single nucleotide variant	NM_014679.5(CEP57):c.1217G>A (p.Gly406Glu)	Inborn genetic diseases [RCV004967794]	uncertain significance	11	95829276	95829276	Human	1	name
597656323	CV3652957	single nucleotide variant	NM_014679.5(CEP57):c.1398G>C (p.Met466Ile)	Inborn genetic diseases [RCV004976501]	uncertain significance	11	95831151	95831151	Human	1	name
597631756	CV3652963	single nucleotide variant	NM_014679.5(CEP57):c.1432C>A (p.Leu478Ile)	Inborn genetic diseases [RCV004967795]	uncertain significance	11	95831185	95831185	Human	1	name
597656364	CV3652970	single nucleotide variant	NM_014679.5(CEP57):c.1051C>T (p.Pro351Ser)	Inborn genetic diseases [RCV004976508]	likely benign	11	95827951	95827951	Human	1	name
597656376	CV3652972	single nucleotide variant	NM_014679.5(CEP57):c.1163C>G (p.Ser388Trp)	Inborn genetic diseases [RCV004976510]	uncertain significance	11	95829222	95829222	Human	1	name
597656403	CV3652978	single nucleotide variant	NM_014679.5(CEP57):c.1006G>A (p.Val336Ile)	Inborn genetic diseases [RCV004976514]	uncertain significance	11	95827906	95827906	Human	1	name
597656413	CV3652981	single nucleotide variant	NM_014679.5(CEP57):c.1076A>T (p.Glu359Val)	Inborn genetic diseases [RCV004976516]	uncertain significance	11	95827976	95827976	Human	1	name
597656420	CV3652984	single nucleotide variant	NM_014679.5(CEP57):c.1055C>T (p.Ser352Phe)	Inborn genetic diseases [RCV004976518]	uncertain significance	11	95827955	95827955	Human	1	name
597669767	CV3707046	single nucleotide variant	NM_014679.5(CEP57):c.1016G>A (p.Arg339Gln)	Mosaic variegated aneuploidy syndrome 2 [RCV005004754]	uncertain significance	11	95827916	95827916	Human	1	name
597684526	CV3707047	single nucleotide variant	NM_014679.5(CEP57):c.1048C>G (p.Pro350Ala)	Mosaic variegated aneuploidy syndrome 2 [RCV005006746]	uncertain significance	11	95827948	95827948	Human	1	name
597669775	CV3707049	single nucleotide variant	NM_014679.5(CEP57):c.1352G>A (p.Ser451Asn)	Mosaic variegated aneuploidy syndrome 2 [RCV005004755]	uncertain significance	11	95831105	95831105	Human	1	name
597943100	CV3757910	single nucleotide variant	NM_014679.5(CEP57):c.1490G>T (p.Cys497Phe)	Inborn genetic diseases [RCV005323719]\|Mosaic variegated aneuploidy syndrome 2 [RCV005077909]	uncertain significance	11	95831243	95831243	Human	2	name
597953037	CV3776337	single nucleotide variant	NM_014679.5(CEP57):c.1391A>C (p.Asp464Ala)	Mosaic variegated aneuploidy syndrome 2 [RCV005121465]	uncertain significance	11	95831144	95831144	Human	1	name
597971592	CV3802616	single nucleotide variant	NM_014679.5(CEP57):c.1061A>G (p.Asn354Ser)	Inborn genetic diseases [RCV005311185]\|Mosaic variegated aneuploidy syndrome 2 [RCV005142214]	likely benign\|uncertain significance	11	95827961	95827961	Human	2	name
597876855	CV3813283	single nucleotide variant	NM_014679.5(CEP57):c.1108G>A (p.Glu370Lys)	Mosaic variegated aneuploidy syndrome 2 [RCV005149219]	uncertain significance	11	95828008	95828008	Human	1	name
597868008	CV3838784	single nucleotide variant	NM_014679.5(CEP57):c.1193A>T (p.Glu398Val)	Mosaic variegated aneuploidy syndrome 2 [RCV005176080]	uncertain significance	11	95829252	95829252	Human	1	name
597891885	CV3840202	single nucleotide variant	NM_014679.5(CEP57):c.1154T>C (p.Ile385Thr)	Mosaic variegated aneuploidy syndrome 2 [RCV005179901]	uncertain significance	11	95829213	95829213	Human	1	name
598241858	CV3947872	single nucleotide variant	NM_014679.5(CEP57):c.1093C>G (p.Gln365Glu)	Inborn genetic diseases [RCV005321618]	uncertain significance	11	95827993	95827993	Human	1	name
598209468	CV3947873	single nucleotide variant	NM_014679.5(CEP57):c.1064G>C (p.Gly355Ala)	Inborn genetic diseases [RCV005315696]	uncertain significance	11	95827964	95827964	Human	1	name
598209470	CV3947875	single nucleotide variant	NM_014679.5(CEP57):c.1261T>C (p.Tyr421His)	Inborn genetic diseases [RCV005315697]	uncertain significance	11	95829320	95829320	Human	1	name
598209478	CV3947877	single nucleotide variant	NM_014679.5(CEP57):c.1343G>A (p.Arg448Lys)	Inborn genetic diseases [RCV005315699]	uncertain significance	11	95831096	95831096	Human	1	name
598209512	CV3947892	single nucleotide variant	NM_014679.5(CEP57):c.1396A>T (p.Met466Leu)	Inborn genetic diseases [RCV005315708]	uncertain significance	11	95831149	95831149	Human	1	name
598241894	CV3947894	single nucleotide variant	NM_014679.5(CEP57):c.1330C>G (p.Leu444Val)	Inborn genetic diseases [RCV005321627]	uncertain significance	11	95831083	95831083	Human	1	name
598241907	CV3947906	single nucleotide variant	NM_014679.5(CEP57):c.1080G>C (p.Leu360Phe)	Inborn genetic diseases [RCV005321630]	uncertain significance	11	95827980	95827980	Human	1	name
598209582	CV3947912	single nucleotide variant	NM_014679.5(CEP57):c.1290A>T (p.Leu430Phe)	Inborn genetic diseases [RCV005315721]	uncertain significance	11	95831043	95831043	Human	1	name
598209608	CV3947918	single nucleotide variant	NM_014679.5(CEP57):c.1222A>G (p.Met408Val)	Inborn genetic diseases [RCV005315726]	uncertain significance	11	95829281	95829281	Human	1	name
598241925	CV3947919	single nucleotide variant	NM_014679.5(CEP57):c.1105G>A (p.Asp369Asn)	Inborn genetic diseases [RCV005321634]	uncertain significance	11	95828005	95828005	Human	1	name
598209637	CV3947927	single nucleotide variant	NM_014679.5(CEP57):c.1147A>C (p.Lys383Gln)	Inborn genetic diseases [RCV005315731]	uncertain significance	11	95829206	95829206	Human	1	name
598241944	CV3947928	single nucleotide variant	NM_014679.5(CEP57):c.1149A>C (p.Lys383Asn)	Inborn genetic diseases [RCV005321638]	uncertain significance	11	95829208	95829208	Human	1	name
598241949	CV3947930	single nucleotide variant	NM_014679.5(CEP57):c.1450A>G (p.Met484Val)	Inborn genetic diseases [RCV005321639]	uncertain significance	11	95831203	95831203	Human	1	name
598209669	CV3947936	single nucleotide variant	NM_014679.5(CEP57):c.1094A>G (p.Gln365Arg)	Inborn genetic diseases [RCV005315737]	uncertain significance	11	95827994	95827994	Human	1	name
598209687	CV3947939	single nucleotide variant	NM_014679.5(CEP57):c.1348A>G (p.Ser450Gly)	Inborn genetic diseases [RCV005315740]	uncertain significance	11	95831101	95831101	Human	1	name
598241958	CV3947960	single nucleotide variant	NM_014679.5(CEP57):c.1085A>G (p.Glu362Gly)	Inborn genetic diseases [RCV005321641]	uncertain significance	11	95827985	95827985	Human	1	name
12890835	CV398483	single nucleotide variant	NM_014679.5(CEP57):c.1214T>C (p.Val405Ala)	Inborn genetic diseases [RCV004975523]\|Mosaic variegated aneuploidy syndrome 2 [RCV000475407]	uncertain significance	11	95829273	95829273	Human	2	name
13622104	CV526587	single nucleotide variant	NM_014679.5(CEP57):c.1058C>T (p.Ser353Phe)	Mosaic variegated aneuploidy syndrome 2 [RCV000649341]	uncertain significance	11	95827958	95827958	Human	1	name
13622106	CV527108	single nucleotide variant	NM_014679.5(CEP57):c.1292A>C (p.Glu431Ala)	Inborn genetic diseases [RCV004972809]\|Mosaic variegated aneuploidy syndrome 2 [RCV000649343]	uncertain significance	11	95831045	95831045	Human	2	name
13817991	CV564947	single nucleotide variant	NM_014679.5(CEP57):c.1057T>A (p.Ser353Thr)	Inborn genetic diseases [RCV005318498]\|Mosaic variegated aneuploidy syndrome 2 [RCV000707386]	uncertain significance	11	95827957	95827957	Human	2	name
13805166	CV564949	single nucleotide variant	NM_014679.5(CEP57):c.1160A>C (p.Glu387Ala)	Inborn genetic diseases [RCV004972880]\|Mosaic variegated aneuploidy syndrome 2 [RCV000699935]	uncertain significance	11	95829219	95829219	Human	2	name
13821653	CV566234	single nucleotide variant	NM_014679.5(CEP57):c.1117C>T (p.Gln373Ter)	Mosaic variegated aneuploidy syndrome 2 [RCV000696209]	pathogenic\|uncertain significance	11	95828017	95828017	Human	1	name
13812802	CV566236	single nucleotide variant	NM_014679.5(CEP57):c.1450A>C (p.Met484Leu)	Inborn genetic diseases [RCV004972894]\|Mosaic variegated aneuploidy syndrome 2 [RCV000703940]	uncertain significance	11	95831203	95831203	Human	2	name
14732598	CV640532	single nucleotide variant	NM_014679.5(CEP57):c.1165C>T (p.Pro389Ser)	Inborn genetic diseases [RCV004973009]\|Mosaic variegated aneuploidy syndrome 2 [RCV000818353]	uncertain significance	11	95829224	95829224	Human	2	name
14741458	CV640533	single nucleotide variant	NM_014679.5(CEP57):c.1403T>A (p.Leu468Gln)	Mosaic variegated aneuploidy syndrome 2 [RCV000822246]	uncertain significance	11	95831156	95831156	Human	1	name
21072066	CV791184	single nucleotide variant	NM_014679.5(CEP57):c.1342A>G (p.Arg448Gly)	Mosaic variegated aneuploidy syndrome 2 [RCV000988625]\|not provided [RCV004709015]	benign	11	95831095	95831095	Human	5	name
26902041	CV839185	single nucleotide variant	NM_014679.5(CEP57):c.1031A>G (p.Lys344Arg)	Inborn genetic diseases [RCV005306275]\|Mosaic variegated aneuploidy syndrome 2 [RCV001071761]	uncertain significance	11	95827931	95827931	Human	2	name
26897419	CV839186	single nucleotide variant	NM_014679.5(CEP57):c.1046C>T (p.Thr349Ile)	Inborn genetic diseases [RCV004973289]\|Mosaic variegated aneuploidy syndrome 2 [RCV001048531]	uncertain significance	11	95827946	95827946	Human	2	name
26904929	CV839189	single nucleotide variant	NM_014679.5(CEP57):c.1294A>G (p.Lys432Glu)	Inborn genetic diseases [RCV005306244]\|Mosaic variegated aneuploidy syndrome 2 [RCV001051083]	uncertain significance	11	95831047	95831047	Human	2	name
38479139	CV926425	single nucleotide variant	NM_014679.5(CEP57):c.1172T>C (p.Val391Ala)	Inborn genetic diseases [RCV004978124]\|Mosaic variegated aneuploidy syndrome 2 [RCV001216936]	uncertain significance	11	95829231	95829231	Human	2	name
38479106	CV926426	single nucleotide variant	NM_014679.5(CEP57):c.1196G>A (p.Cys399Tyr)	Inborn genetic diseases [RCV005306321]\|Mosaic variegated aneuploidy syndrome 2 [RCV001216919]	uncertain significance	11	95829255	95829255	Human	2	name
38472039	CV935868	single nucleotide variant	NM_014679.5(CEP57):c.1021G>A (p.Gly341Ser)	Mosaic variegated aneuploidy syndrome 2 [RCV001203012]	uncertain significance	11	95827921	95827921	Human	1	name
38472655	CV935869	single nucleotide variant	NM_014679.5(CEP57):c.1063G>A (p.Gly355Ser)	Inborn genetic diseases [RCV004033566]\|Mosaic variegated aneuploidy syndrome 2 [RCV001203249]	likely benign\|uncertain significance	11	95827963	95827963	Human	2	name
38463548	CV935870	single nucleotide variant	NM_014679.5(CEP57):c.1075G>A (p.Glu359Lys)	Inborn genetic diseases [RCV005306302]\|Mosaic variegated aneuploidy syndrome 2 [RCV001201435]	uncertain significance	11	95827975	95827975	Human	2	name
38459677	CV935871	single nucleotide variant	NM_014679.5(CEP57):c.1099T>A (p.Leu367Ile)	Inborn genetic diseases [RCV004978111]\|Mosaic variegated aneuploidy syndrome 2 [RCV001211684]	uncertain significance	11	95827999	95827999	Human	2	name
38467619	CV935872	single nucleotide variant	NM_014679.5(CEP57):c.1122G>T (p.Met374Ile)	Mosaic variegated aneuploidy syndrome 2 [RCV001212986]	uncertain significance	11	95828022	95828022	Human	1	name
38484416	CV935873	single nucleotide variant	NM_014679.5(CEP57):c.1247C>G (p.Thr416Ser)	Mosaic variegated aneuploidy syndrome 2 [RCV001208038]	uncertain significance	11	95829306	95829306	Human	1	name
38473869	CV947744	single nucleotide variant	NM_014679.5(CEP57):c.1045A>C (p.Thr349Pro)	Mosaic variegated aneuploidy syndrome 2 [RCV001231981]	uncertain significance	11	95827945	95827945	Human	1	name
38481386	CV947745	single nucleotide variant	NM_014679.5(CEP57):c.1246A>G (p.Thr416Ala)	Inborn genetic diseases [RCV005306350]\|Mosaic variegated aneuploidy syndrome 2 [RCV001235094]	uncertain significance	11	95829305	95829305	Human	2	name
38495445	CV947746	single nucleotide variant	NM_014679.5(CEP57):c.1433T>A (p.Leu478His)	Inborn genetic diseases [RCV005306335]\|Mosaic variegated aneuploidy syndrome 2 [RCV001225723]	uncertain significance	11	95831186	95831186	Human	2	name
38489760	CV947747	single nucleotide variant	NM_014679.5(CEP57):c.1496A>G (p.Asp499Gly)	Inborn genetic diseases [RCV005306357]\|Mosaic variegated aneuploidy syndrome 2 [RCV001238551]	uncertain significance	11	95831249	95831249	Human	2	name
38470174	CV956720	single nucleotide variant	NM_014679.5(CEP57):c.1063G>T (p.Gly355Cys)	Inborn genetic diseases [RCV004978212]\|Mosaic variegated aneuploidy syndrome 2 [RCV001248341]	uncertain significance	11	95827963	95827963	Human	2	name
38464003	CV956721	single nucleotide variant	NM_014679.5(CEP57):c.1123A>C (p.Ser375Arg)	Inborn genetic diseases [RCV003166558]\|Mosaic variegated aneuploidy syndrome 2 [RCV001247328]	uncertain significance	11	95828023	95828023	Human	2	name
42722788	CV985289	single nucleotide variant	NM_014679.5(CEP57):c.1357C>G (p.Arg453Gly)	Mosaic variegated aneuploidy syndrome 2 [RCV001292716]	uncertain significance	11	95831110	95831110	Human	1	name
126755959	CV994852	single nucleotide variant	NM_014679.5(CEP57):c.1028G>C (p.Ser343Thr)	Mosaic variegated aneuploidy syndrome 2 [RCV001307987]	uncertain significance	11	95827928	95827928	Human	1	name
126726942	CV994853	single nucleotide variant	NM_014679.5(CEP57):c.1051C>A (p.Pro351Thr)	Inborn genetic diseases [RCV004978277]\|Mosaic variegated aneuploidy syndrome 2 [RCV001303037]	uncertain significance	11	95827951	95827951	Human	2	name
126758437	CV994854	single nucleotide variant	NM_014679.5(CEP57):c.1207G>A (p.Ala403Thr)	Mosaic variegated aneuploidy syndrome 2 [RCV001308719]	uncertain significance	11	95829266	95829266	Human	1	name
126741755	CV994855	single nucleotide variant	NM_014679.5(CEP57):c.1220G>A (p.Arg407Lys)	Mosaic variegated aneuploidy syndrome 2 [RCV001305457]	uncertain significance	11	95829279	95829279	Human	1	name
126755433	CV994856	single nucleotide variant	NM_014679.5(CEP57):c.1453C>A (p.Gln485Lys)	Mosaic variegated aneuploidy syndrome 2 [RCV001307858]	uncertain significance	11	95831206	95831206	Human	1	name
126766636	CV994857	single nucleotide variant	NM_014679.5(CEP57):c.1484G>A (p.Ser495Asn)	Inborn genetic diseases [RCV003284153]\|Mosaic variegated aneuploidy syndrome 2 [RCV001301964]	likely benign\|uncertain significance	11	95831237	95831237	Human	2	name
8568514	CV39647	microsatellite	NM_014679.5(CEP57):c.520_521del (p.Glu174fs)	Mosaic variegated aneuploidy syndrome 2 [RCV000023668]	pathogenic	11	95817799	95817800	Human		name
8568515	CV39648	duplication	NM_014679.5(CEP57):c.915_925dup (p.Leu309fs)	Mosaic variegated aneuploidy syndrome 1 [RCV000656492]\|Mosaic variegated aneuploidy syndrome 2 [RCV000023669]\|not provided [RCV005234795]	pathogenic	11	95827811	95827812	Human	2	name
597684539	CV3707048	microsatellite	NM_014679.5(CEP57):c.1300AAG[1] (p.Lys435del)	Mosaic variegated aneuploidy syndrome 2 [RCV005006747]	uncertain significance	11	95831051	95831053	Human		name
13812487	CV566226	deletion	NM_014679.5(CEP57):c.836_838del (p.Gln279del)	Mosaic variegated aneuploidy syndrome 2 [RCV000703728]\|not provided [RCV003227838]	uncertain significance	11	95822525	95822527	Human	1	name
151869530	CV1413676	microsatellite	NM_014679.5(CEP57):c.1421_1430del (p.Arg474fs)	Mosaic variegated aneuploidy syndrome 2 [RCV002018757]	uncertain significance	11	95831164	95831173	Human		name
407501982	CV3495642	microsatellite	NM_014679.5(CEP57):c.1388_1391del (p.Lys463fs)	not provided [RCV004697482]	likely pathogenic	11	95831137	95831140	Human		name
28889435	CV859921	deletion	NM_014679.5(CEP57):c.1420_1421del (p.Arg474fs)	not provided [RCV001092186]	uncertain significance	11	95831173	95831174	Human		name
26893154	CV839188	deletion	NM_014679.5(CEP57):c.1281_1295del (p.425LEKQK[1])	Mosaic variegated aneuploidy syndrome 2 [RCV001047227]	uncertain significance	11	95831029	95831043	Human	1	name
14704444	CV626211	deletion	NM_014679.5(CEP57):c.1402del (p.Lys467_Leu468insTer)	Mosaic variegated aneuploidy syndrome 2 [RCV000791171]	likely pathogenic	11	95831155	95831155	Human	1	name
26922349	CV839187	indel	NM_014679.5(CEP57):c.1075_1076delinsTT (p.Glu359Leu)	Mosaic variegated aneuploidy syndrome 2 [RCV001061908]	uncertain significance	11	95827975	95827976	Human		name
156122681	CV2052396	deletion	NM_014679.5(CEP57):c.1357_1362del (p.Arg453_Ser454del)	Mosaic variegated aneuploidy syndrome 2 [RCV002825363]	uncertain significance	11	95831110	95831115	Human	1	name
156118853	CV2150745	deletion	NM_014679.5(CEP57):c.1342_1362del (p.Arg448_Ser454del)	Mosaic variegated aneuploidy syndrome 2 [RCV003021715]	uncertain significance	11	95831095	95831115	Human	1	name
13472570	CV462356	deletion	NM_014679.5(CEP57):c.1297_1305del (p.Gln433_Lys435del)	Mosaic variegated aneuploidy syndrome 2 [RCV000524965]	uncertain significance	11	95831045	95831053	Human	1	name
405190050	CV3035154	microsatellite	NM_014679.5(CEP57):c.312_313del (p.Tyr104_Lys105delinsTer)	Mosaic variegated aneuploidy syndrome 2 [RCV003640709]	pathogenic	11	95813038	95813039	Human		name
156161303	CV2096889	microsatellite	NM_014679.5(CEP57):c.45+11_45+12insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAAGCAG	Mosaic variegated aneuploidy syndrome 2 [RCV002872670]	uncertain significance	11	95790745	95790746	Human		name
156187099	CV2346688	single nucleotide variant	NM_001271852.3(CEP57L1):c.16A>G (p.Met6Val)	not specified [RCV004199708]	uncertain significance	6	109145237	109145237	Human		name
401894674	CV2785163	single nucleotide variant	NM_001271852.3(CEP57L1):c.18G>A (p.Met6Ile)	not specified [RCV004355160]	uncertain significance	6	109145239	109145239	Human		name
156067661	CV2356704	single nucleotide variant	NM_001271852.3(CEP57L1):c.56G>A (p.Arg19Lys)	not specified [RCV004202058]	uncertain significance	6	109145277	109145277	Human		name
155929364	CV2356782	single nucleotide variant	NM_001271852.3(CEP57L1):c.34A>G (p.Ser12Gly)	not specified [RCV004202125]	uncertain significance	6	109145255	109145255	Human		name
407469291	CV3428988	single nucleotide variant	NM_001271852.3(CEP57L1):c.29T>C (p.Val10Ala)	not specified [RCV004614986]	uncertain significance	6	109145250	109145250	Human		name
15165603	CV710105	single nucleotide variant	NM_001271852.3(CEP57L1):c.28G>T (p.Val10Leu)	not provided [RCV000970986]	benign	6	109145249	109145249	Human		name
15184474	CV710106	single nucleotide variant	NM_001271852.3(CEP57L1):c.393G>A (p.Lys131=)	not provided [RCV000975121]	benign	6	109150170	109150170	Human		name
156328500	CV2213624	single nucleotide variant	NM_001271852.3(CEP57L1):c.164T>G (p.Leu55Arg)	not specified [RCV004089708]	uncertain significance	6	109146761	109146761	Human		name
156142356	CV2257307	single nucleotide variant	NM_001271852.3(CEP57L1):c.203G>A (p.Arg68His)	not specified [RCV004125411]	likely benign	6	109146800	109146800	Human		name
329397673	CV2456471	single nucleotide variant	NM_001271852.3(CEP57L1):c.202C>T (p.Arg68Cys)	not specified [RCV004275620]	uncertain significance	6	109146799	109146799	Human		name
401891074	CV2768996	single nucleotide variant	NM_001271852.3(CEP57L1):c.197T>A (p.Ile66Asn)	not specified [RCV004348870]	uncertain significance	6	109146794	109146794	Human		name
405777468	CV3296964	single nucleotide variant	NM_001271852.3(CEP57L1):c.161C>G (p.Ala54Gly)	not specified [RCV004436357]	uncertain significance	6	109146758	109146758	Human		name
407469296	CV3428989	single nucleotide variant	NM_001271852.3(CEP57L1):c.166A>G (p.Ile56Val)	not specified [RCV004614987]	uncertain significance	6	109146763	109146763	Human		name
597789235	CV3652988	single nucleotide variant	NM_001271852.3(CEP57L1):c.112A>G (p.Asn38Asp)	not specified [RCV004901713]	uncertain significance	6	109145333	109145333	Human		name
15200388	CV721638	deletion	NM_001271852.3(CEP57L1):c.810del (p.Phe270fs)	not provided [RCV000890898]	likely benign	6	109159087	109159087	Human		name
156379714	CV2211547	single nucleotide variant	NM_001271852.3(CEP57L1):c.828G>T (p.Arg276Ser)	not specified [RCV004084453]	uncertain significance	6	109159274	109159274	Human		name
156198388	CV2312914	single nucleotide variant	NM_001271852.3(CEP57L1):c.717C>A (p.His239Gln)	not specified [RCV004159427]	uncertain significance	6	109155850	109155850	Human		name
156389862	CV2380888	single nucleotide variant	NM_001271852.3(CEP57L1):c.868G>T (p.Val290Leu)	not specified [RCV004218435]	uncertain significance	6	109159314	109159314	Human		name
156060246	CV2391861	single nucleotide variant	NM_001271852.3(CEP57L1):c.810T>A (p.Phe270Leu)	not specified [RCV004235734]	uncertain significance	6	109159090	109159090	Human		name
401748956	CV2702440	single nucleotide variant	NM_001271852.3(CEP57L1):c.976C>T (p.Leu326Phe)	not specified [RCV004316953]	uncertain significance	6	109159422	109159422	Human		name
401773635	CV2705460	single nucleotide variant	NM_001271852.3(CEP57L1):c.652T>C (p.Ser218Pro)	not specified [RCV004316551]	uncertain significance	6	109155302	109155302	Human		name
401874476	CV2759230	single nucleotide variant	NM_001271852.3(CEP57L1):c.931C>T (p.Pro311Ser)	not specified [RCV004335830]	likely benign	6	109159377	109159377	Human		name
401856777	CV2764958	single nucleotide variant	NM_001271852.3(CEP57L1):c.463G>A (p.Ala155Thr)	not specified [RCV004335040]	uncertain significance	6	109153833	109153833	Human		name
405777480	CV3296966	single nucleotide variant	NM_001271852.3(CEP57L1):c.644A>G (p.Asp215Gly)	not specified [RCV004436359]	uncertain significance	6	109155294	109155294	Human		name
405777487	CV3296967	single nucleotide variant	NM_001271852.3(CEP57L1):c.836G>A (p.Arg279His)	not specified [RCV004436360]	uncertain significance	6	109159282	109159282	Human		name
405777493	CV3296968	single nucleotide variant	NM_001271852.3(CEP57L1):c.896C>T (p.Pro299Leu)	not specified [RCV004436361]	uncertain significance	6	109159342	109159342	Human		name
405777499	CV3296969	single nucleotide variant	NM_001271852.3(CEP57L1):c.929C>T (p.Pro310Leu)	not specified [RCV004436362]	uncertain significance	6	109159375	109159375	Human		name
407469288	CV3428987	single nucleotide variant	NM_001271852.3(CEP57L1):c.349A>G (p.Ile117Val)	not specified [RCV004614985]	uncertain significance	6	109150126	109150126	Human		name
597789619	CV3652986	single nucleotide variant	NM_001271852.3(CEP57L1):c.434G>A (p.Arg145Gln)	not specified [RCV004901711]	uncertain significance	6	109150211	109150211	Human		name
597789238	CV3652989	single nucleotide variant	NM_001271852.3(CEP57L1):c.476G>C (p.Arg159Thr)	not specified [RCV004901714]	uncertain significance	6	109153846	109153846	Human		name
598209819	CV3947965	single nucleotide variant	NM_001271852.3(CEP57L1):c.427G>A (p.Val143Ile)	not specified [RCV005315764]	uncertain significance	6	109150204	109150204	Human		name
598209827	CV3947967	single nucleotide variant	NM_001271852.3(CEP57L1):c.767G>A (p.Arg256Gln)	not specified [RCV005315765]	uncertain significance	6	109159047	109159047	Human		name
598241972	CV3947968	single nucleotide variant	NM_001271852.3(CEP57L1):c.867C>A (p.Asn289Lys)	not specified [RCV005321644]	uncertain significance	6	109159313	109159313	Human		name
598241978	CV3947969	single nucleotide variant	NM_001271852.3(CEP57L1):c.670C>T (p.Leu224Phe)	not specified [RCV005321645]	uncertain significance	6	109155803	109155803	Human		name
598209836	CV3947970	single nucleotide variant	NM_001271852.3(CEP57L1):c.424A>G (p.Asn142Asp)	not specified [RCV005315766]	uncertain significance	6	109150201	109150201	Human		name
156079573	CV2198394	single nucleotide variant	NM_001271852.3(CEP57L1):c.1361A>T (p.Asp454Val)	not specified [RCV004081930]	uncertain significance	6	109162948	109162948	Human		name
156237653	CV2285823	single nucleotide variant	NM_001271852.3(CEP57L1):c.1187A>G (p.Gln396Arg)	not specified [RCV004143771]	uncertain significance	6	109162774	109162774	Human		name
156268599	CV2305774	single nucleotide variant	NM_001271852.3(CEP57L1):c.1251G>C (p.Lys417Asn)	not specified [RCV004167581]	uncertain significance	6	109162838	109162838	Human		name
401861541	CV2779847	single nucleotide variant	NM_001271852.3(CEP57L1):c.1096T>C (p.Cys366Arg)	not specified [RCV004353467]	uncertain significance	6	109160651	109160651	Human		name
405777455	CV3296962	single nucleotide variant	NM_001271852.3(CEP57L1):c.1089A>C (p.Glu363Asp)	not specified [RCV004436355]	uncertain significance	6	109160644	109160644	Human		name
405777461	CV3296963	single nucleotide variant	NM_001271852.3(CEP57L1):c.1116A>T (p.Glu372Asp)	not specified [RCV004436356]	uncertain significance	6	109160671	109160671	Human		name
597789230	CV3652987	single nucleotide variant	NM_001271852.3(CEP57L1):c.1292A>T (p.Asn431Ile)	not specified [RCV004901712]	uncertain significance	6	109162879	109162879	Human		name

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