Zmym2 Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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292 records found for search term Zmym2

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
405292514	CV3192736	single nucleotide variant	NM_197968.4(ZMYM2):c.-7C>T	ZMYM2-related disorder [RCV003964591]	likely benign	13	19993066	19993066	Human		name , trait , alternate_id
150451223	CV1254212	single nucleotide variant	NM_197968.4(ZMYM2):c.2494-1G>A	Congenital anomaly of kidney and urinary tract [RCV001849539]\|Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities [RCV001667847]	pathogenic\|likely pathogenic	13	20058574	20058574	Human	2	name
150541106	CV1296288	single nucleotide variant	NM_197968.4(ZMYM2):c.1735+1G>A	not provided [RCV001767298]	uncertain significance	13	20026763	20026763	Human		name
150536722	CV1301077	single nucleotide variant	NM_197968.4(ZMYM2):c.1299+1G>T	not provided [RCV001763560]	uncertain significance	13	20005240	20005240	Human		name
151882693	CV1443271	single nucleotide variant	NM_197968.4(ZMYM2):c.3038-1G>A	not provided [RCV002037190]	likely pathogenic	13	20064450	20064450	Human		name
155267336	CV1696627	single nucleotide variant	NM_197968.4(ZMYM2):c.3569-5T>C	not provided [RCV002281485]	uncertain significance	13	20082776	20082776	Human		name
401738548	CV2738299	single nucleotide variant	NM_197968.4(ZMYM2):c.3820+3A>G	not specified [RCV003317687]	uncertain significance	13	20083035	20083035	Human		name
401830153	CV2744150	single nucleotide variant	NM_197968.4(ZMYM2):c.2494-2A>G	Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities [RCV003327347]	pathogenic	13	20058573	20058573	Human	1	name
408384733	CV3503432	single nucleotide variant	NM_197968.4(ZMYM2):c.3820+2T>C	ZMYM2-related disorder [RCV004732063]	uncertain significance	13	20083034	20083034	Human		name , trait , alternate_id
408365547	CV3507440	single nucleotide variant	NM_197968.4(ZMYM2):c.3454-4A>C	ZMYM2-related disorder [RCV004755073]	likely benign	13	20082012	20082012	Human		name , trait , alternate_id
597632791	CV3552903	single nucleotide variant	NM_197968.4(ZMYM2):c.2912-6T>C	not provided [RCV004823733]	uncertain significance	13	20062840	20062840	Human		name
598123156	CV3884975	single nucleotide variant	NM_197968.4(ZMYM2):c.1969-8G>C	not specified [RCV005238584]	uncertain significance	13	20034246	20034246	Human		name
598216417	CV3891418	single nucleotide variant	NM_197968.4(ZMYM2):c.2459-2A>G	Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities [RCV005252260]	likely pathogenic	13	20052275	20052275	Human	1	name
616932978	CV4010423	single nucleotide variant	NM_197968.4(ZMYM2):c.1851+1G>A	Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities [RCV005406193]	likely pathogenic	13	20027319	20027319	Human	1	name
616939263	CV4015593	single nucleotide variant	NM_197968.4(ZMYM2):c.1968+5G>A	not provided [RCV005413105]	uncertain significance	13	20031440	20031440	Human		name
616938771	CV4015826	single nucleotide variant	NM_197968.4(ZMYM2):c.3568+1G>A	Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities [RCV005414378]	likely pathogenic	13	20082131	20082131	Human	1	name
616938772	CV4015827	single nucleotide variant	NM_197968.4(ZMYM2):c.3454-1G>A	Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities [RCV005414379]	likely pathogenic	13	20082015	20082015	Human	1	name
616938773	CV4015828	single nucleotide variant	NM_197968.4(ZMYM2):c.2292+2C>T	Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities [RCV005414380]	likely pathogenic	13	20036911	20036911	Human	1	name
150511237	CV1229398	single nucleotide variant	NM_197968.4(ZMYM2):c.2119+16A>G	not provided [RCV001637327]	benign	13	20034420	20034420	Human		name
150490465	CV1239122	single nucleotide variant	NM_197968.4(ZMYM2):c.3820+16T>G	not provided [RCV001654690]	benign	13	20083048	20083048	Human		name
150482345	CV1244262	deletion	NM_003453.4(ZMYM2):c.3133_3136del	not provided [RCV001653109]	likely pathogenic	13	20066849	20066852	Human		name
150411891	CV1198469	deletion	NM_197968.4(ZMYM2):c.3301+3_3301+6del	not provided [RCV001574173]	uncertain significance	13	20067020	20067023	Human		name
408391901	CV3523491	duplication	NM_197968.4(ZMYM2):c.2911+2_2911+3dup	not provided [RCV004770865]	uncertain significance	13	20061224	20061225	Human		name
155265514	CV1695667	microsatellite	NM_197968.4(ZMYM2):c.3569-11_3569-8del	not provided [RCV002280398]	likely pathogenic	13	20082767	20082770	Human		name
408366198	CV3515897	single nucleotide variant	NM_197968.4(ZMYM2):c.17T>C (p.Val6Ala)	ZMYM2-related disorder [RCV004755621]	uncertain significance	13	19993089	19993089	Human		name , trait , alternate_id
597658065	CV3731748	single nucleotide variant	NM_197968.4(ZMYM2):c.25T>A (p.Leu9Ile)	not provided [RCV005001929]	uncertain significance	13	19993097	19993097	Human		name
15176255	CV702617	single nucleotide variant	NM_197968.4(ZMYM2):c.276A>G (p.Leu92=)	ZMYM2-related disorder [RCV003960615]\|not provided [RCV000950783]	benign\|likely benign	13	19993348	19993348	Human	1	name , trait , alternate_id
329394379	CV2469840	single nucleotide variant	NM_197968.4(ZMYM2):c.41A>C (p.Gln14Pro)	Inborn genetic diseases [RCV003218763]	uncertain significance	13	19993113	19993113	Human	1	name
401933932	CV2802425	single nucleotide variant	NM_197968.4(ZMYM2):c.46C>A (p.Pro16Thr)	ZMYM2-related disorder [RCV003410813]	uncertain significance	13	19993118	19993118	Human		name , trait , alternate_id
405286000	CV3191998	single nucleotide variant	NM_197968.4(ZMYM2):c.369G>A (p.Glu123=)	ZMYM2-related disorder [RCV003923931]	likely benign	13	19993441	19993441	Human		name , trait , alternate_id
407425092	CV3411102	single nucleotide variant	NM_197968.4(ZMYM2):c.40C>G (p.Gln14Glu)	not provided [RCV004588792]	uncertain significance	13	19993112	19993112	Human		name
597625930	CV3634318	single nucleotide variant	NM_197968.4(ZMYM2):c.65C>T (p.Thr22Met)	Inborn genetic diseases [RCV004964855]	uncertain significance	13	19993137	19993137	Human	1	name
597625942	CV3634324	single nucleotide variant	NM_197968.4(ZMYM2):c.73G>A (p.Ala25Thr)	Inborn genetic diseases [RCV004964860]	uncertain significance	13	19993145	19993145	Human	1	name
597934997	CV3863585	single nucleotide variant	NM_197968.4(ZMYM2):c.91G>T (p.Val31Leu)	not provided [RCV005207398]	uncertain significance	13	19993163	19993163	Human		name
150507847	CV1244668	single nucleotide variant	NM_197968.4(ZMYM2):c.2040T>C (p.Tyr680=)	not provided [RCV001658917]	benign	13	20034325	20034325	Human		name
155797261	CV1860291	deletion	NM_197968.4(ZMYM2):c.978del (p.Val327fs)	Congenital anomaly of kidney and urinary tract [RCV002466933]	pathogenic	13	20002980	20002980	Human	1	name
156199273	CV2365292	single nucleotide variant	NM_197968.4(ZMYM2):c.140A>G (p.Asn47Ser)	Inborn genetic diseases [RCV002985102]	uncertain significance	13	19993212	19993212	Human	1	name
156267464	CV2389319	single nucleotide variant	NM_197968.4(ZMYM2):c.155C>T (p.Ser52Leu)	Inborn genetic diseases [RCV002769830]	uncertain significance	13	19993227	19993227	Human	1	name
329395033	CV2473008	single nucleotide variant	NM_197968.4(ZMYM2):c.273A>T (p.Glu91Asp)	not provided [RCV003218991]	uncertain significance	13	19993345	19993345	Human		name
401730122	CV2683960	single nucleotide variant	NM_197968.4(ZMYM2):c.115G>A (p.Ala39Thr)	Inborn genetic diseases [RCV003248088]	uncertain significance	13	19993187	19993187	Human	1	name
401865577	CV2749277	single nucleotide variant	NM_197968.4(ZMYM2):c.289T>G (p.Ser97Ala)	not specified [RCV003330475]	uncertain significance	13	19993361	19993361	Human		name
401896406	CV2781275	single nucleotide variant	NM_197968.4(ZMYM2):c.244A>G (p.Ile82Val)	Inborn genetic diseases [RCV003374014]	uncertain significance	13	19993316	19993316	Human	1	name
405262383	CV3200185	single nucleotide variant	NM_197968.4(ZMYM2):c.2082A>G (p.Val694=)	ZMYM2-related disorder [RCV003967280]	likely benign	13	20034367	20034367	Human		name , trait , alternate_id
405288991	CV3204908	single nucleotide variant	NM_197968.4(ZMYM2):c.2997A>G (p.Pro999=)	ZMYM2-related disorder [RCV003961554]\|not provided [RCV005242523]	likely benign	13	20062931	20062931	Human	1	name , trait , alternate_id
405285327	CV3212310	single nucleotide variant	NM_197968.4(ZMYM2):c.2811A>G (p.Leu937=)	ZMYM2-related disorder [RCV003958930]	likely benign	13	20061124	20061124	Human		name , trait , alternate_id
405292790	CV3217321	single nucleotide variant	NM_197968.4(ZMYM2):c.2910C>T (p.Asn970=)	ZMYM2-related disorder [RCV003964711]	likely benign	13	20061223	20061223	Human		name , trait , alternate_id
405293178	CV3221253	single nucleotide variant	NM_197968.4(ZMYM2):c.1212T>G (p.Ser404=)	ZMYM2-related disorder [RCV003966785]	likely benign	13	20005152	20005152	Human		name , trait , alternate_id
405290239	CV3221280	single nucleotide variant	NM_197968.4(ZMYM2):c.2484C>T (p.Thr828=)	ZMYM2-related disorder [RCV003962195]	likely benign	13	20052302	20052302	Human		name , trait , alternate_id
407460154	CV3490449	single nucleotide variant	NM_197968.4(ZMYM2):c.232G>A (p.Asp78Asn)	Inborn genetic diseases [RCV004687322]	uncertain significance	13	19993304	19993304	Human	1	name
408383415	CV3526801	single nucleotide variant	NM_197968.4(ZMYM2):c.263A>G (p.Lys88Arg)	not provided [RCV004772114]	uncertain significance	13	19993335	19993335	Human		name
616939376	CV4015707	duplication	NM_197968.4(ZMYM2):c.944dup (p.Gln316fs)	Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities [RCV005413219]	pathogenic	13	20002942	20002943	Human	1	name
15139180	CV713861	single nucleotide variant	NM_197968.4(ZMYM2):c.1233C>T (p.Asp411=)	not provided [RCV000965921]	benign	13	20005173	20005173	Human		name
15135241	CV713862	single nucleotide variant	NM_197968.4(ZMYM2):c.1593A>G (p.Gly531=)	not provided [RCV000965255]	benign	13	20026620	20026620	Human		name
15197686	CV725414	single nucleotide variant	NM_197968.4(ZMYM2):c.1173G>A (p.Val391=)	ZMYM2-related disorder [RCV004754608]\|not provided [RCV000890133]	benign	13	20005113	20005113	Human	1	name , trait , alternate_id
150451212	CV1254209	deletion	NM_197968.4(ZMYM2):c.1607del (p.Cys536fs)	Congenital anomaly of kidney and urinary tract [RCV001849536]\|Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities [RCV001667844]	pathogenic\|likely pathogenic	13	20026634	20026634	Human	2	name
150542400	CV1302596	duplication	NM_197968.4(ZMYM2):c.2035dup (p.Thr679fs)	not provided [RCV001761286]	uncertain significance	13	20034319	20034320	Human		name
151733337	CV1336539	single nucleotide variant	NM_197968.4(ZMYM2):c.622C>T (p.Arg208Ter)	Congenital anomaly of kidney and urinary tract [RCV001849768]	likely pathogenic	13	19993694	19993694	Human	1	name
151816853	CV1456784	deletion	NM_197968.4(ZMYM2):c.1095del (p.His365fs)	not provided [RCV001900498]	pathogenic	13	20003097	20003097	Human		name
153346762	CV1691109	duplication	NM_197968.4(ZMYM2):c.2833dup (p.Ala945fs)	Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities [RCV002272590]	pathogenic	13	20061145	20061146	Human	1	name
153346955	CV1694297	duplication	NM_197968.4(ZMYM2):c.1397dup (p.Cys466fs)	Neurodevelopmental disorder [RCV002277713]	likely pathogenic	13	20006470	20006471	Human	1	name
155642868	CV1706444	duplication	NM_197968.4(ZMYM2):c.1856dup (p.Ser620fs)	Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities [RCV002287300]	pathogenic	13	20031322	20031323	Human	1	name
155644930	CV1708871	single nucleotide variant	NM_197968.4(ZMYM2):c.3972T>G (p.Val1324=)	not provided [RCV002291468]	uncertain significance	13	20085852	20085852	Human		name
155795385	CV1861268	single nucleotide variant	NM_197968.4(ZMYM2):c.332G>A (p.Gly111Glu)	not provided [RCV002469550]	uncertain significance	13	19993404	19993404	Human		name
156126374	CV2234339	single nucleotide variant	NM_197968.4(ZMYM2):c.728C>T (p.Thr243Ile)	Inborn genetic diseases [RCV002762639]	uncertain significance	13	19993800	19993800	Human	1	name
156213275	CV2257358	single nucleotide variant	NM_197968.4(ZMYM2):c.638T>C (p.Met213Thr)	Inborn genetic diseases [RCV002804221]	uncertain significance	13	19993710	19993710	Human	1	name
156031496	CV2274934	single nucleotide variant	NM_197968.4(ZMYM2):c.953C>T (p.Ser318Phe)	Inborn genetic diseases [RCV002845416]	uncertain significance	13	20002955	20002955	Human	1	name
155998477	CV2296087	duplication	NM_197968.4(ZMYM2):c.2727dup (p.Val910fs)	Inborn genetic diseases [RCV002883055]	pathogenic	13	20059549	20059550	Human	1	name
156044799	CV2340131	single nucleotide variant	NM_197968.4(ZMYM2):c.569T>G (p.Leu190Ter)	Inborn genetic diseases [RCV002977445]	pathogenic	13	19993641	19993641	Human	1	name
155903531	CV2386534	single nucleotide variant	NM_197968.4(ZMYM2):c.391C>T (p.Gln131Ter)	Inborn genetic diseases [RCV002749088]	pathogenic	13	19993463	19993463	Human	1	name
156197000	CV2400693	deletion	NM_197968.4(ZMYM2):c.1615del (p.Cys539fs)	Inborn genetic diseases [RCV002789527]	pathogenic	13	20026641	20026641	Human	1	name
329357788	CV2453787	single nucleotide variant	NM_197968.4(ZMYM2):c.910T>A (p.Leu304Ile)	Inborn genetic diseases [RCV003203839]	uncertain significance	13	20002912	20002912	Human	1	name
329384516	CV2472864	single nucleotide variant	NM_197968.4(ZMYM2):c.371A>T (p.Asp124Val)	not provided [RCV003214166]	uncertain significance	13	19993443	19993443	Human		name
401730850	CV2686748	single nucleotide variant	NM_197968.4(ZMYM2):c.695T>A (p.Leu232Gln)	Inborn genetic diseases [RCV003289687]	uncertain significance	13	19993767	19993767	Human	1	name
401906244	CV2799889	single nucleotide variant	NM_197968.4(ZMYM2):c.799G>T (p.Ala267Ser)	ZMYM2-related disorder [RCV003421189]	uncertain significance	13	19993871	19993871	Human		name , trait , alternate_id
401933418	CV2801942	single nucleotide variant	NM_197968.4(ZMYM2):c.628A>G (p.Met210Val)	ZMYM2-related disorder [RCV003392921]	uncertain significance	13	19993700	19993700	Human		name , trait , alternate_id
401924699	CV2805080	single nucleotide variant	NM_197968.4(ZMYM2):c.950C>T (p.Pro317Leu)	not specified [RCV003404899]	uncertain significance	13	20002952	20002952	Human		name
405276444	CV3198535	single nucleotide variant	NM_197968.4(ZMYM2):c.3219G>A (p.Thr1073=)	ZMYM2-related disorder [RCV003903865]	likely benign	13	20066937	20066937	Human		name , trait , alternate_id
405295468	CV3204766	single nucleotide variant	NM_197968.4(ZMYM2):c.421C>T (p.Arg141Ter)	ZMYM2-related disorder [RCV003937367]\|not provided [RCV004780691]	pathogenic\|uncertain significance	13	19993493	19993493	Human	1	name , trait , alternate_id
405274689	CV3209018	single nucleotide variant	NM_197968.4(ZMYM2):c.4110T>C (p.Tyr1370=)	ZMYM2-related disorder [RCV003951781]	likely benign	13	20085990	20085990	Human		name , trait , alternate_id
405682877	CV3357347	single nucleotide variant	NM_197968.4(ZMYM2):c.437C>G (p.Thr146Ser)	Inborn genetic diseases [RCV004489073]	uncertain significance	13	19993509	19993509	Human	1	name
405854162	CV3392873	single nucleotide variant	NM_197968.4(ZMYM2):c.919G>A (p.Val307Met)	not specified [RCV004527030]	uncertain significance	13	20002921	20002921	Human		name
408385105	CV3505562	duplication	NM_197968.4(ZMYM2):c.1977dup (p.His660fs)	ZMYM2-related disorder [RCV004732352]	pathogenic	13	20034261	20034262	Human		name , trait , alternate_id
408385459	CV3528517	single nucleotide variant	NM_197968.4(ZMYM2):c.764G>A (p.Gly255Glu)	not provided [RCV004772349]	uncertain significance	13	19993836	19993836	Human		name
596926350	CV3530774	single nucleotide variant	NM_197968.4(ZMYM2):c.467C>T (p.Ser156Phe)	not provided [RCV004778359]	uncertain significance	13	19993539	19993539	Human		name
596931349	CV3531685	single nucleotide variant	NM_197968.4(ZMYM2):c.370G>A (p.Asp124Asn)	not provided [RCV004781247]	uncertain significance	13	19993442	19993442	Human		name
596938850	CV3549859	single nucleotide variant	NM_197968.4(ZMYM2):c.377A>G (p.Glu126Gly)	not provided [RCV004812900]	uncertain significance	13	19993449	19993449	Human		name
596940133	CV3550801	single nucleotide variant	NM_197968.4(ZMYM2):c.716T>G (p.Val239Gly)	not provided [RCV004814701]	uncertain significance	13	19993788	19993788	Human		name
597625933	CV3634319	single nucleotide variant	NM_197968.4(ZMYM2):c.596A>G (p.Asp199Gly)	Inborn genetic diseases [RCV004964856]	uncertain significance	13	19993668	19993668	Human	1	name
598127440	CV3882667	deletion	NM_197968.4(ZMYM2):c.2720del (p.Pro907fs)	Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities [RCV005234197]	likely pathogenic	13	20059542	20059542	Human	1	name
598233646	CV3893736	single nucleotide variant	NM_197968.4(ZMYM2):c.487A>G (p.Ser163Gly)	Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities [RCV005256470]	uncertain significance	13	19993559	19993559	Human	1	name
598269300	CV3934201	single nucleotide variant	NM_197968.4(ZMYM2):c.449C>T (p.Thr150Ile)	Inborn genetic diseases [RCV005302538]	uncertain significance	13	19993521	19993521	Human	1	name
598269310	CV3934203	single nucleotide variant	NM_197968.4(ZMYM2):c.710T>C (p.Phe237Ser)	Inborn genetic diseases [RCV005302540]	uncertain significance	13	19993782	19993782	Human	1	name
598269317	CV3934204	single nucleotide variant	NM_197968.4(ZMYM2):c.619G>C (p.Gly207Arg)	Inborn genetic diseases [RCV005302541]	uncertain significance	13	19993691	19993691	Human	1	name
598269329	CV3934207	duplication	NM_197968.4(ZMYM2):c.1008dup (p.Pro337fs)	Inborn genetic diseases [RCV005302544]	pathogenic	13	20003004	20003005	Human	1	name
15166953	CV713863	single nucleotide variant	NM_197968.4(ZMYM2):c.3768C>T (p.Asn1256=)	ZMYM2-related disorder [RCV003972918]\|not provided [RCV000971298]	benign\|likely benign	13	20082980	20082980	Human	1	name , trait , alternate_id
15165662	CV725413	single nucleotide variant	NM_197968.4(ZMYM2):c.454G>C (p.Asp152His)	Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities [RCV002501394]\|not provided [RCV000882462]	benign\|likely benign	13	19993526	19993526	Human	1	name
150451206	CV1254208	single nucleotide variant	NM_197968.4(ZMYM2):c.1618C>T (p.Arg540Ter)	Congenital anomaly of kidney and urinary tract [RCV001849535]\|Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities [RCV001667843]\|not provided [RCV004720933]	pathogenic\|likely pathogenic	13	20026645	20026645	Human	2	name
150551188	CV1292552	single nucleotide variant	NM_197968.4(ZMYM2):c.1654A>G (p.Ile552Val)	not provided [RCV001754159]	uncertain significance	13	20026681	20026681	Human		name
150531238	CV1299350	single nucleotide variant	NM_197968.4(ZMYM2):c.1981C>T (p.Gln661Ter)	not provided [RCV001757043]	pathogenic\|uncertain significance	13	20034266	20034266	Human		name
150552213	CV1302294	duplication	NM_197968.4(ZMYM2):c.3119dup (p.Ser1041fs)	not provided [RCV001767558]	pathogenic\|uncertain significance	13	20064531	20064532	Human		name
150547395	CV1316004	single nucleotide variant	NM_197968.4(ZMYM2):c.2338C>T (p.Arg780Ter)	Congenital anomaly of kidney and urinary tract [RCV001849572]\|Inborn genetic diseases [RCV002541230]\|Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities [RCV001785280]\|not provided [RCV003107852]	pathogenic\|likely pathogenic	13	20051478	20051478	Human	3	name
151348107	CV1322373	single nucleotide variant	NM_197968.4(ZMYM2):c.2351G>A (p.Arg784His)	not provided [RCV001804178]	uncertain significance	13	20051491	20051491	Human		name
151349496	CV1325419	deletion	NM_197968.4(ZMYM2):c.3532del (p.Ile1178fs)	Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities [RCV001814705]	pathogenic	13	20082091	20082091	Human	1	name
151733342	CV1336540	single nucleotide variant	NM_197968.4(ZMYM2):c.1192C>T (p.Gln398Ter)	Congenital anomaly of kidney and urinary tract [RCV001849769]	likely pathogenic	13	20005132	20005132	Human	1	name
151733349	CV1336541	duplication	NM_197968.4(ZMYM2):c.1367dup (p.Tyr456Ter)	Congenital anomaly of kidney and urinary tract [RCV001849770]	likely pathogenic	13	20006440	20006441	Human	1	name
151733359	CV1336543	single nucleotide variant	NM_197968.4(ZMYM2):c.2165T>A (p.Leu722Ter)	Congenital anomaly of kidney and urinary tract [RCV001849772]	likely pathogenic	13	20036782	20036782	Human	1	name
151733363	CV1336544	duplication	NM_197968.4(ZMYM2):c.3176dup (p.Asp1059fs)	Congenital anomaly of kidney and urinary tract [RCV001849773]	likely pathogenic	13	20066893	20066894	Human	1	name
151822636	CV1456442	single nucleotide variant	NM_197968.4(ZMYM2):c.2461C>G (p.Gln821Glu)	not provided [RCV002030037]	uncertain significance	13	20052279	20052279	Human		name
151887630	CV1464507	single nucleotide variant	NM_197968.4(ZMYM2):c.1648C>T (p.Gln550Ter)	not provided [RCV001963021]	pathogenic	13	20026675	20026675	Human		name
151783650	CV1474270	single nucleotide variant	NM_197968.4(ZMYM2):c.2911A>C (p.Ser971Arg)	not provided [RCV001875599]	uncertain significance	13	20061224	20061224	Human		name
153348500	CV1692537	duplication	NM_197968.4(ZMYM2):c.2331dup (p.Lys778Ter)	Neurodevelopmental delay [RCV002274391]	likely pathogenic	13	20051469	20051470	Human	1	name
153348908	CV1692954	single nucleotide variant	NM_197968.4(ZMYM2):c.1262A>G (p.Asn421Ser)	not provided [RCV002274810]	uncertain significance	13	20005202	20005202	Human		name
153349191	CV1694042	single nucleotide variant	NM_197968.4(ZMYM2):c.2252G>A (p.Ser751Asn)	Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities [RCV002275583]	uncertain significance	13	20036869	20036869	Human	1	name
155265603	CV1695749	duplication	NM_197968.4(ZMYM2):c.3314dup (p.Leu1106fs)	not provided [RCV002280481]	pathogenic	13	20067248	20067249	Human		name
155643200	CV1707725	single nucleotide variant	NM_197968.4(ZMYM2):c.2700C>G (p.Tyr900Ter)	Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities [RCV002289186]	pathogenic	13	20059523	20059523	Human	1	name
155741467	CV1760564	single nucleotide variant	NM_197968.4(ZMYM2):c.1598T>C (p.Leu533Pro)	not provided [RCV002302624]	uncertain significance	13	20026625	20026625	Human		name
155719984	CV1781223	single nucleotide variant	NM_197968.4(ZMYM2):c.2073T>G (p.His691Gln)	not provided [RCV002306299]	uncertain significance	13	20034358	20034358	Human		name
155797181	CV1859251	single nucleotide variant	NM_197968.4(ZMYM2):c.2518A>G (p.Thr840Ala)	not provided [RCV002464879]	uncertain significance	13	20058599	20058599	Human		name
155797839	CV1860517	deletion	NM_197968.4(ZMYM2):c.3131del (p.Lys1044fs)	not provided [RCV002467159]	likely pathogenic	13	20064537	20064537	Human		name
155794877	CV1861101	single nucleotide variant	NM_197968.4(ZMYM2):c.1309G>T (p.Glu437Ter)	Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities [RCV002468814]	likely pathogenic	13	20006383	20006383	Human	1	name
155794878	CV1861102	single nucleotide variant	NM_197968.4(ZMYM2):c.1398C>A (p.Cys466Ter)	Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities [RCV002468815]	likely pathogenic	13	20006472	20006472	Human	1	name
155795614	CV1861404	single nucleotide variant	NM_197968.4(ZMYM2):c.1009C>A (p.Pro337Thr)	Inborn genetic diseases [RCV005301152]\|not provided [RCV002469686]	uncertain significance	13	20003011	20003011	Human	1	name
156398445	CV2200801	single nucleotide variant	NM_197968.4(ZMYM2):c.1129A>T (p.Lys377Ter)	Inborn genetic diseases [RCV002655564]	pathogenic	13	20003131	20003131	Human	1	name
155926131	CV2230564	single nucleotide variant	NM_197968.4(ZMYM2):c.2905A>G (p.Ile969Val)	Inborn genetic diseases [RCV002728117]	uncertain significance	13	20061218	20061218	Human	1	name
156086248	CV2249390	single nucleotide variant	NM_197968.4(ZMYM2):c.2867T>A (p.Met956Lys)	Inborn genetic diseases [RCV002798236]	uncertain significance	13	20061180	20061180	Human	1	name
156314195	CV2257121	single nucleotide variant	NM_197968.4(ZMYM2):c.1304G>T (p.Arg435Leu)	Inborn genetic diseases [RCV002809328]	uncertain significance	13	20006378	20006378	Human	1	name
156247312	CV2263855	single nucleotide variant	NM_197968.4(ZMYM2):c.2203A>G (p.Lys735Glu)	Inborn genetic diseases [RCV002830901]	uncertain significance	13	20036820	20036820	Human	1	name
156094550	CV2310019	single nucleotide variant	NM_197968.4(ZMYM2):c.1426A>G (p.Ser476Gly)	Inborn genetic diseases [RCV002888234]	uncertain significance	13	20006500	20006500	Human	1	name
156005866	CV2401137	single nucleotide variant	NM_197968.4(ZMYM2):c.2932A>G (p.Ile978Val)	Inborn genetic diseases [RCV002779793]	uncertain significance	13	20062866	20062866	Human	1	name
156434765	CV2403104	single nucleotide variant	NM_197968.4(ZMYM2):c.2479C>T (p.Arg827Ter)	not provided [RCV003127060]	likely pathogenic	13	20052297	20052297	Human		name
156435430	CV2403562	single nucleotide variant	NM_197968.4(ZMYM2):c.1943C>G (p.Ser648Ter)	Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities [RCV003128024]	likely pathogenic	13	20031410	20031410	Human	1	name
243051967	CV2405273	single nucleotide variant	NM_197968.4(ZMYM2):c.2003C>G (p.Ser668Ter)	Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities [RCV003225873]	likely pathogenic	13	20034288	20034288	Human	1	name
329366042	CV2438032	single nucleotide variant	NM_197968.4(ZMYM2):c.1642A>G (p.Met548Val)	Inborn genetic diseases [RCV003207533]	uncertain significance	13	20026669	20026669	Human	1	name
329394705	CV2472918	single nucleotide variant	NM_197968.4(ZMYM2):c.1274G>A (p.Cys425Tyr)	not provided [RCV003218901]	uncertain significance	13	20005214	20005214	Human		name
329847667	CV2524415	single nucleotide variant	NM_197968.4(ZMYM2):c.1871C>T (p.Ser624Phe)	not provided [RCV003227307]	uncertain significance	13	20031338	20031338	Human		name
329954405	CV2669089	single nucleotide variant	NM_197968.4(ZMYM2):c.1798C>T (p.Pro600Ser)	See cases [RCV003232922]	uncertain significance	13	20027265	20027265	Human		name
329953838	CV2669175	single nucleotide variant	NM_197968.4(ZMYM2):c.1718A>C (p.Lys573Thr)	not provided [RCV003231679]	uncertain significance	13	20026745	20026745	Human		name
329954713	CV2670642	single nucleotide variant	NM_197968.4(ZMYM2):c.1208C>T (p.Thr403Ile)	not provided [RCV003235910]	uncertain significance	13	20005148	20005148	Human		name
329955139	CV2671080	single nucleotide variant	NM_197968.4(ZMYM2):c.1039C>T (p.Arg347Ter)	Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities [RCV003236351]\|not provided [RCV004721168]	pathogenic\|likely pathogenic	13	20003041	20003041	Human	1	name
329952560	CV2671833	single nucleotide variant	NM_197968.4(ZMYM2):c.2189G>T (p.Cys730Phe)	not provided [RCV003237230]	uncertain significance	13	20036806	20036806	Human		name
401757606	CV2675411	single nucleotide variant	NM_197968.4(ZMYM2):c.1171G>A (p.Val391Met)	Inborn genetic diseases [RCV003279435]	uncertain significance	13	20005111	20005111	Human	1	name
401783416	CV2723550	single nucleotide variant	NM_197968.4(ZMYM2):c.2459A>C (p.Asp820Ala)	Inborn genetic diseases [RCV003309556]	uncertain significance	13	20052277	20052277	Human	1	name
401736762	CV2725220	single nucleotide variant	NM_197968.4(ZMYM2):c.1726A>G (p.Lys576Glu)	Inborn genetic diseases [RCV003273255]	uncertain significance	13	20026753	20026753	Human	1	name
401725039	CV2735813	single nucleotide variant	NM_197968.4(ZMYM2):c.1730C>G (p.Ser577Ter)	not provided [RCV003312256]	pathogenic	13	20026757	20026757	Human		name
401796256	CV2740462	single nucleotide variant	NM_197968.4(ZMYM2):c.1831A>G (p.Ser611Gly)	not provided [RCV003321132]	uncertain significance	13	20027298	20027298	Human		name
401796450	CV2740636	single nucleotide variant	NM_197968.4(ZMYM2):c.1088T>C (p.Phe363Ser)	not provided [RCV003321306]	uncertain significance	13	20003090	20003090	Human		name
401796545	CV2740710	single nucleotide variant	NM_197968.4(ZMYM2):c.2779A>C (p.Ser927Arg)	not provided [RCV003321380]	uncertain significance	13	20061092	20061092	Human		name
401828900	CV2743167	single nucleotide variant	NM_197968.4(ZMYM2):c.1818C>G (p.Asn606Lys)	not provided [RCV003325876]	uncertain significance	13	20027285	20027285	Human		name
401876989	CV2767787	single nucleotide variant	NM_197968.4(ZMYM2):c.1328T>C (p.Met443Thr)	Inborn genetic diseases [RCV003348263]	uncertain significance	13	20006402	20006402	Human	1	name
401895569	CV2777954	single nucleotide variant	NM_197968.4(ZMYM2):c.2490G>A (p.Met830Ile)	Inborn genetic diseases [RCV003373169]	uncertain significance	13	20052308	20052308	Human	1	name
401869784	CV2782479	single nucleotide variant	NM_197968.4(ZMYM2):c.2602C>G (p.Gln868Glu)	Inborn genetic diseases [RCV003381029]	uncertain significance	13	20058683	20058683	Human	1	name
401866418	CV2782836	single nucleotide variant	NM_197968.4(ZMYM2):c.1057C>T (p.Leu353Phe)	Inborn genetic diseases [RCV003379654]	uncertain significance	13	20003059	20003059	Human	1	name
401915971	CV2795352	single nucleotide variant	NM_197968.4(ZMYM2):c.1013T>G (p.Leu338Ter)	Neurodevelopmental disorder [RCV003389187]	pathogenic	13	20003015	20003015	Human	1	name
401901684	CV2798001	single nucleotide variant	NM_197968.4(ZMYM2):c.1928A>G (p.Lys643Arg)	ZMYM2-related disorder [RCV003393117]	uncertain significance	13	20031395	20031395	Human		name , trait , alternate_id
401913470	CV2801609	single nucleotide variant	NM_197968.4(ZMYM2):c.1898G>A (p.Ser633Asn)	ZMYM2-related disorder [RCV003400076]	uncertain significance	13	20031365	20031365	Human		name , trait , alternate_id
401933584	CV2802093	single nucleotide variant	NM_197968.4(ZMYM2):c.2720C>T (p.Pro907Leu)	ZMYM2-related disorder [RCV003410458]	uncertain significance	13	20059543	20059543	Human		name , trait , alternate_id
401910067	CV2813752	single nucleotide variant	NM_197968.4(ZMYM2):c.1557G>A (p.Met519Ile)	not provided [RCV003398325]	likely benign	13	20019591	20019591	Human		name
401916810	CV2829500	single nucleotide variant	NM_197968.4(ZMYM2):c.1633T>C (p.Phe545Leu)	not provided [RCV003443544]	uncertain significance	13	20026660	20026660	Human		name
401913090	CV2830192	single nucleotide variant	NM_197968.4(ZMYM2):c.1516G>T (p.Gly506Cys)	not provided [RCV003441407]	uncertain significance	13	20019550	20019550	Human		name
401913566	CV2830458	single nucleotide variant	NM_197968.4(ZMYM2):c.1303C>G (p.Arg435Gly)	not provided [RCV003441673]	uncertain significance	13	20006377	20006377	Human		name
401914646	CV2830781	single nucleotide variant	NM_197968.4(ZMYM2):c.1837G>T (p.Val613Leu)	not provided [RCV003442519]	uncertain significance	13	20027304	20027304	Human		name
405257384	CV3194275	single nucleotide variant	NM_197968.4(ZMYM2):c.1111A>T (p.Lys371Ter)	ZMYM2-related disorder [RCV003892233]	likely pathogenic	13	20003113	20003113	Human		name , trait , alternate_id
405682836	CV3357336	single nucleotide variant	NM_197968.4(ZMYM2):c.1211C>G (p.Ser404Cys)	Inborn genetic diseases [RCV004489062]	uncertain significance	13	20005151	20005151	Human	1	name
405682841	CV3357337	single nucleotide variant	NM_197968.4(ZMYM2):c.1898G>T (p.Ser633Ile)	Inborn genetic diseases [RCV004489063]	uncertain significance	13	20031365	20031365	Human	1	name
405682843	CV3357338	single nucleotide variant	NM_197968.4(ZMYM2):c.1990A>G (p.Ser664Gly)	Inborn genetic diseases [RCV004489064]	uncertain significance	13	20034275	20034275	Human	1	name
405682846	CV3357339	single nucleotide variant	NM_197968.4(ZMYM2):c.2186A>G (p.Tyr729Cys)	Inborn genetic diseases [RCV004489065]	uncertain significance	13	20036803	20036803	Human	1	name
405682851	CV3357340	single nucleotide variant	NM_197968.4(ZMYM2):c.2321A>G (p.Gln774Arg)	Inborn genetic diseases [RCV004489066]	uncertain significance	13	20051461	20051461	Human	1	name
405682855	CV3357341	single nucleotide variant	NM_197968.4(ZMYM2):c.2465G>T (p.Gly822Val)	Inborn genetic diseases [RCV004489067]	uncertain significance	13	20052283	20052283	Human	1	name
405682859	CV3357342	single nucleotide variant	NM_197968.4(ZMYM2):c.2513C>T (p.Ser838Phe)	Inborn genetic diseases [RCV004489068]	uncertain significance	13	20058594	20058594	Human	1	name
405682862	CV3357343	single nucleotide variant	NM_197968.4(ZMYM2):c.2587T>C (p.Cys863Arg)	Inborn genetic diseases [RCV004489069]	uncertain significance	13	20058668	20058668	Human	1	name
405682865	CV3357344	single nucleotide variant	NM_197968.4(ZMYM2):c.2861C>T (p.Thr954Met)	Inborn genetic diseases [RCV004489070]	uncertain significance	13	20061174	20061174	Human	1	name
405682868	CV3357345	single nucleotide variant	NM_197968.4(ZMYM2):c.2936T>C (p.Ile979Thr)	Inborn genetic diseases [RCV004489071]	uncertain significance	13	20062870	20062870	Human	1	name
407427231	CV3410546	deletion	NM_197968.4(ZMYM2):c.3749del (p.Asn1250fs)	Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities [RCV004586193]	pathogenic	13	20082954	20082954	Human	1	name
407460158	CV3490451	single nucleotide variant	NM_197968.4(ZMYM2):c.1552C>T (p.His518Tyr)	Inborn genetic diseases [RCV004687324]	uncertain significance	13	20019586	20019586	Human	1	name
407460161	CV3490452	single nucleotide variant	NM_197968.4(ZMYM2):c.1246A>G (p.Thr416Ala)	Inborn genetic diseases [RCV004687325]	uncertain significance	13	20005186	20005186	Human	1	name
408377311	CV3500683	single nucleotide variant	NM_197968.4(ZMYM2):c.1892C>T (p.Ala631Val)	Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities [RCV004727191]	uncertain significance	13	20031359	20031359	Human	1	name
408370006	CV3502969	single nucleotide variant	NM_197968.4(ZMYM2):c.2609A>T (p.Lys870Ile)	not provided [RCV004724090]	uncertain significance	13	20058690	20058690	Human		name
408386731	CV3518514	single nucleotide variant	NM_197968.4(ZMYM2):c.1835G>T (p.Cys612Phe)	not provided [RCV004760832]	uncertain significance	13	20027302	20027302	Human		name
408388580	CV3520821	single nucleotide variant	NM_197968.4(ZMYM2):c.2549T>C (p.Val850Ala)	not provided [RCV004761654]	uncertain significance	13	20058630	20058630	Human		name
408394602	CV3521520	single nucleotide variant	NM_197968.4(ZMYM2):c.2819A>G (p.Lys940Arg)	Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities [RCV004764317]	pathogenic\|uncertain significance	13	20061132	20061132	Human	1	name
408389013	CV3522858	single nucleotide variant	NM_197968.4(ZMYM2):c.1863G>T (p.Met621Ile)	not provided [RCV004769239]	uncertain significance	13	20031330	20031330	Human		name
408390676	CV3527675	single nucleotide variant	NM_197968.4(ZMYM2):c.1753C>G (p.His585Asp)	not provided [RCV004774943]	uncertain significance	13	20027220	20027220	Human		name
408392411	CV3528004	single nucleotide variant	NM_197968.4(ZMYM2):c.1823G>T (p.Cys608Phe)	not provided [RCV004775772]	uncertain significance	13	20027290	20027290	Human		name
596925566	CV3530514	single nucleotide variant	NM_197968.4(ZMYM2):c.1786C>A (p.Gln596Lys)	not provided [RCV004778099]	uncertain significance	13	20027253	20027253	Human		name
596921194	CV3534781	single nucleotide variant	NM_197968.4(ZMYM2):c.1618C>G (p.Arg540Gly)	not provided [RCV004784338]	uncertain significance	13	20026645	20026645	Human		name
596922641	CV3537324	single nucleotide variant	NM_197968.4(ZMYM2):c.1418A>G (p.Tyr473Cys)	not provided [RCV004787294]	uncertain significance	13	20006492	20006492	Human		name
596924997	CV3541768	single nucleotide variant	NM_197968.4(ZMYM2):c.1368T>G (p.Tyr456Ter)	Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities [RCV004795479]	pathogenic	13	20006442	20006442	Human	1	name
596947531	CV3549089	single nucleotide variant	NM_197968.4(ZMYM2):c.2349G>A (p.Trp783Ter)	not provided [RCV004811413]	likely pathogenic	13	20051489	20051489	Human		name
597625925	CV3634315	single nucleotide variant	NM_197968.4(ZMYM2):c.2456A>G (p.Tyr819Cys)	Inborn genetic diseases [RCV004964852]	uncertain significance	13	20051596	20051596	Human	1	name
597625927	CV3634316	single nucleotide variant	NM_197968.4(ZMYM2):c.2903A>G (p.Asn968Ser)	Inborn genetic diseases [RCV004964853]	uncertain significance	13	20061216	20061216	Human	1	name
597625928	CV3634317	single nucleotide variant	NM_197968.4(ZMYM2):c.1072A>G (p.Thr358Ala)	Inborn genetic diseases [RCV004964854]	uncertain significance	13	20003074	20003074	Human	1	name
597625939	CV3634323	single nucleotide variant	NM_197968.4(ZMYM2):c.1876A>G (p.Asn626Asp)	Inborn genetic diseases [RCV004964859]	uncertain significance	13	20031343	20031343	Human	1	name
597719409	CV3733507	single nucleotide variant	NM_197968.4(ZMYM2):c.2815A>G (p.Ser939Gly)	not provided [RCV005052697]	uncertain significance	13	20061128	20061128	Human		name
598121804	CV3882938	single nucleotide variant	NM_197968.4(ZMYM2):c.1672A>G (p.Met558Val)	Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities [RCV005234471]\|not specified [RCV005236849]	uncertain significance	13	20026699	20026699	Human	1	name
598125205	CV3883866	deletion	NM_197968.4(ZMYM2):c.4034del (p.Ser1345fs)	not provided [RCV005236221]	uncertain significance	13	20085914	20085914	Human		name
598128814	CV3886612	single nucleotide variant	NM_197968.4(ZMYM2):c.2930A>C (p.Asp977Ala)	not provided [RCV005244272]	likely benign	13	20062864	20062864	Human		name
598158901	CV3896989	single nucleotide variant	NM_197968.4(ZMYM2):c.1078C>T (p.Leu360Phe)	not provided [RCV005367963]	uncertain significance	13	20003080	20003080	Human		name
598269305	CV3934202	single nucleotide variant	NM_197968.4(ZMYM2):c.1877A>G (p.Asn626Ser)	Inborn genetic diseases [RCV005302539]	uncertain significance	13	20031344	20031344	Human	1	name
598269323	CV3934205	single nucleotide variant	NM_197968.4(ZMYM2):c.2093G>A (p.Gly698Asp)	Inborn genetic diseases [RCV005302542]	uncertain significance	13	20034378	20034378	Human	1	name
598269333	CV3934208	single nucleotide variant	NM_197968.4(ZMYM2):c.2969A>G (p.Glu990Gly)	Inborn genetic diseases [RCV005302545]	uncertain significance	13	20062903	20062903	Human	1	name
598269338	CV3934209	single nucleotide variant	NM_197968.4(ZMYM2):c.1304G>A (p.Arg435His)	Inborn genetic diseases [RCV005302546]	uncertain significance	13	20006378	20006378	Human	1	name
617148344	CV4017145	single nucleotide variant	NM_197968.4(ZMYM2):c.2289C>G (p.Tyr763Ter)	ZMYM2-related neurodevelopmental disorder with multiple anomalies [RCV005416310]	not provided	13	20036906	20036906	Human		name , trait
617151500	CV4018033	single nucleotide variant	NM_197968.4(ZMYM2):c.1912A>G (p.Lys638Glu)	not specified [RCV005417823]	uncertain significance	13	20031379	20031379	Human		name
617150691	CV4018840	single nucleotide variant	NM_197968.4(ZMYM2):c.2782G>C (p.Glu928Gln)	not provided [RCV005423248]	uncertain significance	13	20061095	20061095	Human		name
14978991	CV677964	single nucleotide variant	NM_197968.4(ZMYM2):c.1193A>G (p.Gln398Arg)	not provided [RCV000851182]	uncertain significance	13	20005133	20005133	Human		name
15102984	CV702618	single nucleotide variant	NM_197968.4(ZMYM2):c.2857A>G (p.Met953Val)	ZMYM2-related disorder [RCV003915998]\|not provided [RCV000959387]	benign	13	20061170	20061170	Human	1	name , trait , alternate_id
15196943	CV753745	single nucleotide variant	NM_197968.4(ZMYM2):c.2946C>A (p.Asp982Glu)	ZMYM2-related disorder [RCV003950748]\|not provided [RCV000911839]	likely benign	13	20062880	20062880	Human	1	name , trait , alternate_id
40815904	CV970544	single nucleotide variant	NM_197968.4(ZMYM2):c.1765C>T (p.Arg589Ter)	Inborn genetic diseases [RCV004967934]\|Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities [RCV002291294]\|not provided [RCV001262012]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	13	20027232	20027232	Human	2	name
150530960	CV1310494	single nucleotide variant	NM_197968.4(ZMYM2):c.3472C>T (p.Arg1158Ter)	Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities [RCV001775422]\|not provided [RCV002286848]	pathogenic\|likely pathogenic	13	20082034	20082034	Human	1	name
151733368	CV1336545	single nucleotide variant	NM_197968.4(ZMYM2):c.3246G>A (p.Trp1082Ter)	Congenital anomaly of kidney and urinary tract [RCV001849774]	likely pathogenic	13	20066964	20066964	Human	1	name
152155604	CV1668387	single nucleotide variant	NM_197968.4(ZMYM2):c.3929A>C (p.Tyr1310Ser)	Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities [RCV002222288]	uncertain significance	13	20083764	20083764	Human	1	name
152980463	CV1675974	single nucleotide variant	NM_197968.4(ZMYM2):c.3411T>G (p.Tyr1137Ter)	Seizure [RCV002244563]	likely pathogenic	13	20067348	20067348	Human	2	name
153000328	CV1682979	single nucleotide variant	NM_197968.4(ZMYM2):c.3355A>C (p.Asn1119His)	See cases [RCV002252989]	uncertain significance	13	20067292	20067292	Human		name
153000331	CV1682980	single nucleotide variant	NM_197968.4(ZMYM2):c.3451G>C (p.Glu1151Gln)	See cases [RCV002252990]	uncertain significance	13	20067388	20067388	Human		name
153302004	CV1689404	single nucleotide variant	NM_197968.4(ZMYM2):c.3515A>G (p.Glu1172Gly)	not provided [RCV002267354]	uncertain significance	13	20082077	20082077	Human		name
153346954	CV1694296	single nucleotide variant	NM_197968.4(ZMYM2):c.3388C>T (p.Arg1130Ter)	Neurodevelopmental disorder [RCV002277712]\|not provided [RCV003443020]	likely pathogenic	13	20067325	20067325	Human	1	name
155643647	CV1708001	duplication	NM_197968.4(ZMYM2):c.275_278dup (p.Gln93fs)	Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities [RCV002289462]	uncertain significance	13	19993346	19993347	Human	1	name
155797561	CV1860396	single nucleotide variant	NM_197968.4(ZMYM2):c.3751C>A (p.Pro1251Thr)	Inborn genetic diseases [RCV005301151]\|not provided [RCV002467038]	uncertain significance	13	20082963	20082963	Human	1	name
156035875	CV2208261	single nucleotide variant	NM_197968.4(ZMYM2):c.3407A>C (p.Asn1136Thr)	Inborn genetic diseases [RCV002691912]	uncertain significance	13	20067344	20067344	Human	1	name
155946979	CV2234752	single nucleotide variant	NM_197968.4(ZMYM2):c.3455A>G (p.Tyr1152Cys)	Inborn genetic diseases [RCV002752611]	uncertain significance	13	20082017	20082017	Human	1	name
155979324	CV2247234	single nucleotide variant	NM_197968.4(ZMYM2):c.3404A>G (p.Glu1135Gly)	Inborn genetic diseases [RCV002777563]	uncertain significance	13	20067341	20067341	Human	1	name
156311176	CV2260137	single nucleotide variant	NM_197968.4(ZMYM2):c.3200G>T (p.Ser1067Ile)	Inborn genetic diseases [RCV002809016]	uncertain significance	13	20066918	20066918	Human	1	name
155998102	CV2260939	single nucleotide variant	NM_197968.4(ZMYM2):c.4072G>A (p.Val1358Ile)	Inborn genetic diseases [RCV002794270]	uncertain significance	13	20085952	20085952	Human	1	name
156153884	CV2328582	single nucleotide variant	NM_197968.4(ZMYM2):c.4084A>G (p.Lys1362Glu)	Inborn genetic diseases [RCV002954821]	uncertain significance	13	20085964	20085964	Human	1	name
156154611	CV2328668	single nucleotide variant	NM_197968.4(ZMYM2):c.3224G>T (p.Gly1075Val)	Inborn genetic diseases [RCV002954867]	uncertain significance	13	20066942	20066942	Human	1	name
156064458	CV2352984	single nucleotide variant	NM_197968.4(ZMYM2):c.3387C>G (p.Ile1129Met)	Inborn genetic diseases [RCV002978552]	uncertain significance	13	20067324	20067324	Human	1	name
156138116	CV2374193	single nucleotide variant	NM_197968.4(ZMYM2):c.3620T>C (p.Leu1207Pro)	Inborn genetic diseases [RCV002708896]	uncertain significance	13	20082832	20082832	Human	1	name
243052336	CV2416138	single nucleotide variant	NM_197968.4(ZMYM2):c.3671C>G (p.Thr1224Ser)	not provided [RCV003149198]	uncertain significance	13	20082883	20082883	Human		name
401733627	CV2736877	single nucleotide variant	NM_197968.4(ZMYM2):c.3299C>T (p.Ser1100Phe)	not provided [RCV003313639]	uncertain significance	13	20067017	20067017	Human		name
401740292	CV2738699	single nucleotide variant	NM_197968.4(ZMYM2):c.3895C>T (p.Pro1299Ser)	not provided [RCV003318093]	uncertain significance	13	20083730	20083730	Human		name
401860337	CV2794386	single nucleotide variant	NM_197968.4(ZMYM2):c.3538C>T (p.Arg1180Ter)	Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities [RCV003387554]	pathogenic\|likely pathogenic	13	20082100	20082100	Human	1	name
401924167	CV2801065	single nucleotide variant	NM_197968.4(ZMYM2):c.4082T>G (p.Val1361Gly)	ZMYM2-related disorder [RCV003404654]	uncertain significance	13	20085962	20085962	Human		name , trait , alternate_id
404999475	CV2851495	single nucleotide variant	NM_197968.4(ZMYM2):c.3019G>A (p.Glu1007Lys)	Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities [RCV003493210]	uncertain significance	13	20062953	20062953	Human	1	name
405260934	CV3185981	single nucleotide variant	NM_197968.4(ZMYM2):c.3316T>G (p.Leu1106Val)	not provided [RCV003885057]	likely benign	13	20067253	20067253	Human		name
405288632	CV3193739	single nucleotide variant	NM_197968.4(ZMYM2):c.3259C>T (p.Gln1087Ter)	ZMYM2-related disorder [RCV003982745]	likely pathogenic	13	20066977	20066977	Human		name , trait , alternate_id
405682874	CV3357346	single nucleotide variant	NM_197968.4(ZMYM2):c.3667A>T (p.Asn1223Tyr)	Inborn genetic diseases [RCV004489072]	uncertain significance	13	20082879	20082879	Human	1	name
405854510	CV3393099	single nucleotide variant	NM_197968.4(ZMYM2):c.4118A>G (p.Asp1373Gly)	not specified [RCV004527256]	uncertain significance	13	20085998	20085998	Human		name
407460157	CV3490450	single nucleotide variant	NM_197968.4(ZMYM2):c.3119G>A (p.Arg1040Gln)	Inborn genetic diseases [RCV004687323]	uncertain significance	13	20064532	20064532	Human	1	name
407460164	CV3490453	single nucleotide variant	NM_197968.4(ZMYM2):c.3766A>C (p.Asn1256His)	Inborn genetic diseases [RCV004687326]	uncertain significance	13	20082978	20082978	Human	1	name
408372974	CV3502169	single nucleotide variant	NM_197968.4(ZMYM2):c.3905G>A (p.Cys1302Tyr)	not provided [RCV004725756]	uncertain significance	13	20083740	20083740	Human		name
408384908	CV3506364	single nucleotide variant	NM_197968.4(ZMYM2):c.3786C>G (p.Tyr1262Ter)	ZMYM2-related disorder [RCV004732166]	uncertain significance	13	20082998	20082998	Human		name , trait , alternate_id
408387095	CV3518692	single nucleotide variant	NM_197968.4(ZMYM2):c.3082G>A (p.Val1028Ile)	not provided [RCV004761011]	uncertain significance	13	20064495	20064495	Human		name
408387794	CV3520487	single nucleotide variant	NM_197968.4(ZMYM2):c.4013C>T (p.Pro1338Leu)	not provided [RCV004761319]	uncertain significance	13	20085893	20085893	Human		name
408387276	CV3524480	single nucleotide variant	NM_197968.4(ZMYM2):c.3583C>T (p.Arg1195Ter)	Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities [RCV005254949]\|not provided [RCV004768354]	pathogenic\|likely pathogenic	13	20082795	20082795	Human	1	name
408388139	CV3527378	duplication	NM_197968.4(ZMYM2):c.3666dup (p.Asn1223Ter)	not provided [RCV004773681]	uncertain significance	13	20082875	20082876	Human		name
408390336	CV3527514	single nucleotide variant	NM_197968.4(ZMYM2):c.3815A>G (p.Asn1272Ser)	not provided [RCV004774781]	uncertain significance	13	20083027	20083027	Human		name
408392569	CV3528179	single nucleotide variant	NM_197968.4(ZMYM2):c.3722G>T (p.Gly1241Val)	not provided [RCV004775947]	uncertain significance	13	20082934	20082934	Human		name
596924754	CV3532404	single nucleotide variant	NM_197968.4(ZMYM2):c.3971T>C (p.Val1324Ala)	not provided [RCV004777515]	uncertain significance	13	20085851	20085851	Human		name
596940025	CV3550774	single nucleotide variant	NM_197968.4(ZMYM2):c.3079C>T (p.Pro1027Ser)	not provided [RCV004814674]	uncertain significance	13	20064492	20064492	Human		name
597625934	CV3634321	single nucleotide variant	NM_197968.4(ZMYM2):c.3371A>G (p.His1124Arg)	Inborn genetic diseases [RCV004964857]	uncertain significance	13	20067308	20067308	Human	1	name
597625937	CV3634322	single nucleotide variant	NM_197968.4(ZMYM2):c.3878T>C (p.Ile1293Thr)	Inborn genetic diseases [RCV004964858]	uncertain significance	13	20083713	20083713	Human	1	name
597625944	CV3634325	single nucleotide variant	NM_197968.4(ZMYM2):c.3182C>G (p.Ser1061Cys)	Inborn genetic diseases [RCV004964861]	uncertain significance	13	20066900	20066900	Human	1	name
597625946	CV3634326	single nucleotide variant	NM_197968.4(ZMYM2):c.3953T>A (p.Leu1318His)	Inborn genetic diseases [RCV004964862]	uncertain significance	13	20085833	20085833	Human	1	name
597675969	CV3703678	single nucleotide variant	NM_197968.4(ZMYM2):c.3605G>A (p.Trp1202Ter)	Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities [RCV005005589]	likely pathogenic	13	20082817	20082817	Human	1	name
597717833	CV3733372	single nucleotide variant	NM_197968.4(ZMYM2):c.3478G>T (p.Asp1160Tyr)	not provided [RCV005052562]	uncertain significance	13	20082040	20082040	Human		name
597854364	CV3762380	single nucleotide variant	NM_197968.4(ZMYM2):c.3970G>A (p.Val1324Ile)	not specified [RCV005088296]	uncertain significance	13	20085850	20085850	Human		name
597854359	CV3762381	single nucleotide variant	NM_197968.4(ZMYM2):c.3129A>T (p.Lys1043Asn)	not specified [RCV005088297]	uncertain significance	13	20064542	20064542	Human		name
597832021	CV3864038	indel	NM_197968.4(ZMYM2):c.2912-5_2912-1delinsGAA	Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities [RCV005208454]	likely pathogenic	13	20062841	20062845	Human		name
598123128	CV3890211	single nucleotide variant	NM_197968.4(ZMYM2):c.3353T>C (p.Leu1118Pro)	not provided [RCV005250730]	uncertain significance	13	20067290	20067290	Human		name
598123828	CV3890449	single nucleotide variant	NM_197968.4(ZMYM2):c.3466A>G (p.Ser1156Gly)	not provided [RCV005250968]	uncertain significance	13	20082028	20082028	Human		name
598199789	CV3892587	single nucleotide variant	NM_197968.4(ZMYM2):c.3806G>T (p.Gly1269Val)	not provided [RCV005254420]	uncertain significance	13	20083018	20083018	Human		name
598233737	CV3893652	single nucleotide variant	NM_197968.4(ZMYM2):c.3985C>A (p.Pro1329Thr)	not provided [RCV005256385]	uncertain significance	13	20085865	20085865	Human		name
598269327	CV3934206	single nucleotide variant	NM_197968.4(ZMYM2):c.4106A>G (p.Asn1369Ser)	Inborn genetic diseases [RCV005302543]	uncertain significance	13	20085986	20085986	Human	1	name
616935275	CV4009426	single nucleotide variant	NM_197968.4(ZMYM2):c.3542G>A (p.Ser1181Asn)	not provided [RCV005402598]	uncertain significance	13	20082104	20082104	Human		name
616938008	CV4013847	single nucleotide variant	NM_197968.4(ZMYM2):c.3184G>A (p.Asp1062Asn)	Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities [RCV005413339]	uncertain significance	13	20066902	20066902	Human	1	name
617149986	CV4017237	single nucleotide variant	NM_197968.4(ZMYM2):c.3040G>C (p.Ala1014Pro)	not provided [RCV005416894]	uncertain significance	13	20064453	20064453	Human		name
14396824	CV612970	single nucleotide variant	NM_197968.4(ZMYM2):c.3395C>T (p.Pro1132Leu)	not provided [RCV000761849]	uncertain significance	13	20067332	20067332	Human		name
155803538	CV1858100	duplication	NM_197968.4(ZMYM2):c.640_641dup (p.Thr215fs)	not provided [RCV002462409]	pathogenic	13	19993711	19993712	Human		name
598123992	CV3883312	deletion	NM_197968.4(ZMYM2):c.339_342del (p.Ser114fs)	Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities [RCV005233186]	pathogenic	13	19993409	19993412	Human	1	name
616937687	CV4014859	microsatellite	NM_197968.4(ZMYM2):c.2056GAG[1] (p.Glu687del)	not provided [RCV005411875]	uncertain significance	13	20034341	20034343	Human		name
150451219	CV1254211	deletion	NM_197968.4(ZMYM2):c.2434_2437del (p.Lys812fs)	Congenital anomaly of kidney and urinary tract [RCV001849538]\|Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities [RCV001667846]	pathogenic\|likely pathogenic	13	20051572	20051575	Human	2	name
150549761	CV1299860	microsatellite	NM_197968.4(ZMYM2):c.3591AGA[1] (p.Glu1198del)	not provided [RCV001765329]	uncertain significance	13	20082801	20082803	Human		name
151716889	CV1334787	deletion	NM_197968.4(ZMYM2):c.2528_2529del (p.Lys843fs)	Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities [RCV001843743]\|ZMYM2-related disorder [RCV003892882]\|not provided [RCV004820212]	pathogenic\|likely pathogenic	13	20058608	20058609	Human	1	name , trait , alternate_id
151733353	CV1336542	deletion	NM_197968.4(ZMYM2):c.1623_1627del (p.Cys543fs)	Congenital anomaly of kidney and urinary tract [RCV001849771]	likely pathogenic	13	20026650	20026654	Human	1	name
153346957	CV1694298	duplication	NM_197968.4(ZMYM2):c.1020_1024dup (p.Gln342fs)	Neurodevelopmental disorder [RCV002277714]	likely pathogenic	13	20003021	20003022	Human	1	name
155922395	CV2218875	deletion	NM_197968.4(ZMYM2):c.1026_1027del (p.Gln342fs)	Inborn genetic diseases [RCV002727627]	pathogenic	13	20003027	20003028	Human	1	name
243052914	CV2416238	deletion	NM_197968.4(ZMYM2):c.2054_2055del (p.Gln685fs)	not provided [RCV003149299]	pathogenic	13	20034339	20034340	Human		name
405724831	CV3235019	microsatellite	NM_197968.4(ZMYM2):c.1120_1121del (p.Val374fs)	Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities [RCV004018044]	pathogenic	13	20003119	20003120	Human		name
408389706	CV3519002	microsatellite	NM_197968.4(ZMYM2):c.2895_2896del (p.Glu965fs)	not provided [RCV004762311]	likely pathogenic	13	20061205	20061206	Human		name
616940229	CV4014739	deletion	NM_197968.4(ZMYM2):c.2098_2099del (p.Lys700fs)	not provided [RCV005414233]	pathogenic	13	20034383	20034384	Human		name
150451227	CV1254213	duplication	NM_197968.4(ZMYM2):c.3130_3131dup (p.Gly1045fs)	Congenital anomaly of kidney and urinary tract [RCV001849540]\|Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities [RCV001667848]	pathogenic\|likely pathogenic	13	20064536	20064537	Human	2	name
153002548	CV1679720	insertion	NM_197968.4(ZMYM2):c.1008_1009insG (p.Pro337fs)	Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities [RCV002251109]	likely pathogenic	13	20003010	20003011	Human	1	name
153304536	CV1687124	deletion	NM_197968.4(ZMYM2):c.3515_3516del (p.Glu1172fs)	not provided [RCV002262412]	likely pathogenic	13	20082076	20082077	Human		name
155938708	CV2146472	microsatellite	NM_197968.4(ZMYM2):c.3336_3337del (p.Thr1114fs)	not provided [RCV003014121]	pathogenic	13	20067268	20067269	Human		name
405291172	CV3222135	duplication	NM_197968.4(ZMYM2):c.3510_3511dup (p.Phe1171fs)	Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities [RCV003984954]	uncertain significance	13	20082071	20082072	Human	1	name
407480541	CV3415303	microsatellite	NM_197968.4(ZMYM2):c.3340_3341del (p.Thr1114fs)	Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities [RCV004596012]	likely pathogenic	13	20067274	20067275	Human		name
408389549	CV3529451	deletion	NM_197968.4(ZMYM2):c.4030_4037del (p.Thr1344fs)	not provided [RCV004774273]	uncertain significance	13	20085908	20085915	Human		name
408385786	CV3520350	insertion	NM_197968.4(ZMYM2):c.4007_4008insG (p.Asp1336fs)	not provided [RCV004760171]	uncertain significance	13	20085887	20085888	Human		name
596947152	CV3548702	insertion	NM_197968.4(ZMYM2):c.2329_2330insGC (p.Leu777fs)	not provided [RCV004811026]	likely pathogenic	13	20051468	20051469	Human		name
155644861	CV1708837	deletion	NM_197968.4(ZMYM2):c.337del (p.Ser112_Val113insTer)	Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities [RCV002291434]	likely pathogenic	13	19993409	19993409	Human	1	name
150451215	CV1254210	duplication	NM_197968.4(ZMYM2):c.766_767dup (p.Val256_Gly257insTer)	Congenital anomaly of kidney and urinary tract [RCV001849537]\|Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities [RCV001667845]	pathogenic\|likely pathogenic	13	19993837	19993838	Human	2	name
153002550	CV1679891	deletion	NM_197968.4(ZMYM2):c.3286_3287del (p.Leu1095_Asp1096insTer)	Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities [RCV002251281]	likely pathogenic	13	20067003	20067004	Human	1	name

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