Emx2 Variant Search Result - Rat Genome Database

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49 records found for search term Emx2

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
155641363	CV1709682	deletion	NM_004098.4(EMX2):c.592-8del	not provided [RCV002292782]	uncertain significance	10	117548057	117548057	Human		name
8561093	CV24559	single nucleotide variant	NM_004098.4(EMX2):c.407-1G>A	Schizencephaly [RCV000010128]	pathogenic	10	117545631	117545631	Human	2	name
8561094	CV24560	single nucleotide variant	NM_004098.4(EMX2):c.407-4G>T	Schizencephaly [RCV000010129]	pathogenic	10	117545628	117545628	Human	2	name
13809419	CV577145	single nucleotide variant	NM_004098.4(EMX2):c.591+6T>C	not provided [RCV000711611]	benign\|likely benign	10	117545822	117545822	Human		name
405260241	CV3190292	single nucleotide variant	NM_004098.4(EMX2):c.42G>A (p.Ser14=)	EMX2-related disorder [RCV003894690]	likely benign	10	117543309	117543309	Human		name , trait , alternate_id
13517196	CV490834	single nucleotide variant	NM_004098.4(EMX2):c.81C>G (p.Ser27=)	not provided [RCV000596373]	uncertain significance	10	117543348	117543348	Human		name
10049443	CV190435	single nucleotide variant	NM_004098.4(EMX2):c.105A>T (p.Ala35=)	not provided [RCV000950754]\|not specified [RCV000173327]	benign\|likely benign	10	117543372	117543372	Human		name
156119523	CV2228940	single nucleotide variant	NM_004098.4(EMX2):c.14C>G (p.Ala5Gly)	Inborn genetic diseases [RCV002762208]	uncertain significance	10	117543281	117543281	Human	1	name
405265038	CV3185454	single nucleotide variant	NM_004098.4(EMX2):c.252A>C (p.Pro84=)	not provided [RCV003886018]	likely benign	10	117543519	117543519	Human		name
597667843	CV3667885	single nucleotide variant	NM_004098.4(EMX2):c.13G>C (p.Ala5Pro)	Inborn genetic diseases [RCV004979770]	uncertain significance	10	117543280	117543280	Human	1	name
616933185	CV4012577	single nucleotide variant	NM_004098.4(EMX2):c.22C>A (p.Arg8Ser)	Congenital hypogonadotropic hypogonadism [RCV005406711]	uncertain significance	10	117543289	117543289	Human	1	name
401751744	CV2727126	single nucleotide variant	NM_004098.4(EMX2):c.621A>C (p.Thr207=)	Inborn genetic diseases [RCV003295603]	likely benign	10	117548094	117548094	Human	1	name
405755965	CV3245050	single nucleotide variant	NM_004098.4(EMX2):c.594A>G (p.Val198=)	Inborn genetic diseases [RCV004382682]	likely benign	10	117548067	117548067	Human	1	name
13517175	CV493425	single nucleotide variant	NM_004098.4(EMX2):c.348G>T (p.Pro116=)	not provided [RCV000596347]	uncertain significance	10	117543615	117543615	Human		name
15107717	CV751980	single nucleotide variant	NM_004098.4(EMX2):c.360C>T (p.Tyr120=)	not provided [RCV000916010]	likely benign	10	117543627	117543627	Human		name
21074099	CV793362	single nucleotide variant	NM_004098.4(EMX2):c.466C>A (p.Arg156=)	not provided [RCV000991959]\|not specified [RCV004997557]	benign	10	117545691	117545691	Human		name
151663643	CV1334109	single nucleotide variant	NM_004098.4(EMX2):c.260C>T (p.Pro87Leu)	Schizencephaly [RCV001839283]	uncertain significance	10	117543527	117543527	Human	2	name
153301223	CV1689071	single nucleotide variant	NM_004098.4(EMX2):c.231C>G (p.His77Gln)	Schizencephaly [RCV002266799]	uncertain significance	10	117543498	117543498	Human	2	name
156034893	CV2252925	single nucleotide variant	NM_004098.4(EMX2):c.121T>G (p.Ser41Ala)	Inborn genetic diseases [RCV002821324]	likely benign	10	117543388	117543388	Human	1	name
401759379	CV2701523	single nucleotide variant	NM_004098.4(EMX2):c.238A>G (p.Asn80Asp)	Inborn genetic diseases [RCV003256854]	uncertain significance	10	117543505	117543505	Human	1	name
405755953	CV3245048	single nucleotide variant	NM_004098.4(EMX2):c.101C>T (p.Ala34Val)	Inborn genetic diseases [RCV004382680]	uncertain significance	10	117543368	117543368	Human	1	name
597667854	CV3667888	single nucleotide variant	NM_004098.4(EMX2):c.157T>A (p.Ser53Thr)	Inborn genetic diseases [RCV004979772]	uncertain significance	10	117543424	117543424	Human	1	name
597667858	CV3667889	single nucleotide variant	NM_004098.4(EMX2):c.211T>G (p.Phe71Val)	Inborn genetic diseases [RCV004979773]	uncertain significance	10	117543478	117543478	Human	1	name
616933189	CV4012574	single nucleotide variant	NM_004098.4(EMX2):c.173C>A (p.Ala58Asp)	Congenital hypogonadotropic hypogonadism [RCV005406708]	uncertain significance	10	117543440	117543440	Human	1	name
616933186	CV4012576	single nucleotide variant	NM_004098.4(EMX2):c.115G>T (p.Ala39Ser)	Congenital hypogonadotropic hypogonadism [RCV005406710]	likely benign	10	117543382	117543382	Human	1	name
41407082	CV980706	single nucleotide variant	NM_004098.4(EMX2):c.112T>C (p.Tyr38His)	Schizencephaly [RCV004799577]	uncertain significance	10	117543379	117543379	Human	2	name
156331295	CV2220506	single nucleotide variant	NM_004098.4(EMX2):c.668A>T (p.Gln223Leu)	Inborn genetic diseases [RCV002718023]	uncertain significance	10	117548141	117548141	Human	1	name
156402040	CV2367881	single nucleotide variant	NM_004098.4(EMX2):c.428G>A (p.Ser143Asn)	Inborn genetic diseases [RCV002657247]	uncertain significance	10	117545653	117545653	Human	1	name
156007275	CV2401296	single nucleotide variant	NM_004098.4(EMX2):c.725G>A (p.Ser242Asn)	Inborn genetic diseases [RCV002779912]	likely benign	10	117548198	117548198	Human	1	name
8561095	CV24561	single nucleotide variant	NM_004098.4(EMX2):c.407G>T (p.Gly136Val)	Schizencephaly [RCV000010130]	pathogenic	10	117545632	117545632	Human	2	name
329396285	CV2462484	single nucleotide variant	NM_004098.4(EMX2):c.515C>A (p.Ala172Asp)	Inborn genetic diseases [RCV003194889]	uncertain significance	10	117545740	117545740	Human	1	name
401876089	CV2789290	single nucleotide variant	NM_004098.4(EMX2):c.656C>T (p.Ser219Leu)	Inborn genetic diseases [RCV003383290]	uncertain significance	10	117548129	117548129	Human	1	name
405755958	CV3245049	single nucleotide variant	NM_004098.4(EMX2):c.311C>T (p.Ser104Leu)	Inborn genetic diseases [RCV004382681]	uncertain significance	10	117543578	117543578	Human	1	name
597667848	CV3667886	single nucleotide variant	NM_004098.4(EMX2):c.308A>T (p.His103Leu)	Inborn genetic diseases [RCV004979771]	uncertain significance	10	117543575	117543575	Human	1	name
597667864	CV3667890	single nucleotide variant	NM_004098.4(EMX2):c.407G>A (p.Gly136Glu)	Inborn genetic diseases [RCV004979774]	uncertain significance	10	117545632	117545632	Human	1	name
616937405	CV4012572	single nucleotide variant	NM_004098.4(EMX2):c.595A>C (p.Lys199Gln)	Congenital hypogonadotropic hypogonadism [RCV005406706]	likely pathogenic	10	117548068	117548068	Human	1	name
616933191	CV4012573	single nucleotide variant	NM_004098.4(EMX2):c.332C>A (p.Ser111Ter)	Congenital hypogonadotropic hypogonadism [RCV005406707]	pathogenic	10	117543599	117543599	Human	1	name
616933188	CV4012575	single nucleotide variant	NM_004098.4(EMX2):c.569G>A (p.Ser190Asn)	Congenital hypogonadotropic hypogonadism [RCV005406709]	uncertain significance	10	117545794	117545794	Human	1	name
616933183	CV4012578	single nucleotide variant	NM_004098.4(EMX2):c.524A>C (p.Lys175Thr)	Congenital hypogonadotropic hypogonadism [RCV005406712]	likely benign	10	117545749	117545749	Human	1	name
13483733	CV441363	single nucleotide variant	NM_004098.4(EMX2):c.575G>C (p.Ser192Thr)	not provided [RCV004691825]\|not specified [RCV000518249]	uncertain significance	10	117545800	117545800	Human		name
13833676	CV584913	single nucleotide variant	NM_004098.4(EMX2):c.653G>A (p.Gly218Asp)	Congenital hypogonadotropic hypogonadism [RCV005407922]\|EMX2-related disorder [RCV004757274]\|not provided [RCV000729006]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	10	117548126	117548126	Human	2	name , trait , alternate_id
155641362	CV1709681	microsatellite	NM_004098.4(EMX2):c.161CCG[5] (p.Ala59del)	not provided [RCV002292781]	likely benign	10	117543427	117543429	Human		name
11636474	CV274643	microsatellite	NM_004098.4(EMX2):c.161CCG[7] (p.Ala59dup)	Inborn genetic diseases [RCV002518134]\|not provided [RCV000269529]	likely benign\|uncertain significance	10	117543426	117543427	Human		name
8561092	CV24558	insertion	NM_004098.4(EMX2):c.575_576insA (p.Ser192fs)	Schizencephaly [RCV000010127]	pathogenic	10	117545800	117545801	Human	2	name
10049442	CV190434	microsatellite	NM_004098.4(EMX2):c.161CCG[4] (p.Ala58_Ala59del)	EMX2-related disorder [RCV003917597]\|Schizencephaly [RCV005396519]\|not specified [RCV000173326]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	10	117543427	117543432	Human		name , trait , alternate_id
13517945	CV490858	microsatellite	NM_004098.4(EMX2):c.161CCG[8] (p.Ala58_Ala59dup)	Schizencephaly [RCV004799219]\|not provided [RCV000596975]	uncertain significance	10	117543426	117543427	Human		name
8651663	CV128238	single nucleotide variant	NR_002791.2(EMX2OS):n.575-8067T>C	Lung cancer [RCV000108725]	uncertain significance	10	117500176	117500176	Human		name
8651665	CV128240	single nucleotide variant	NR_002791.2(EMX2OS):n.574+5371A>G	Lung cancer [RCV000108727]	uncertain significance	10	117538935	117538935	Human		name
8651664	CV128239	single nucleotide variant	NR_002791.2(EMX2OS):n.574+15772C>A	Lung cancer [RCV000108726]	uncertain significance	10	117528534	117528534	Human		name

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