Nsmce2 Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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93 records found for search term Nsmce2

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
151864505	CV1443010	single nucleotide variant	NM_173685.4(NSMCE2):c.265-9C>A	not provided [RCV002034887]	likely benign	8	125182094	125182094	Human		name
151717338	CV1513236	single nucleotide variant	NM_173685.4(NSMCE2):c.519+6G>A	not provided [RCV001890530]	uncertain significance	8	125357325	125357325	Human		name
152159428	CV1544400	duplication	NM_173685.4(NSMCE2):c.158-8dup	not provided [RCV002122927]	benign	8	125151154	125151155	Human		name
156230036	CV1955954	single nucleotide variant	NM_173685.4(NSMCE2):c.519+5C>T	not provided [RCV002575836]	uncertain significance	8	125357324	125357324	Human		name
156089389	CV2008904	single nucleotide variant	NM_173685.4(NSMCE2):c.519+4C>T	not provided [RCV002706257]	uncertain significance	8	125357323	125357323	Human		name
405247686	CV3159020	single nucleotide variant	NM_173685.4(NSMCE2):c.418+9A>G	not provided [RCV003869165]	likely benign	8	125182265	125182265	Human		name
405691340	CV3227461	single nucleotide variant	NM_173685.4(NSMCE2):c.265-1G>A	Seckel syndrome 10 [RCV003991805]	likely pathogenic	8	125182102	125182102	Human	1	name
126738558	CV1020433	single nucleotide variant	NM_173685.4(NSMCE2):c.419-18C>T	Seckel syndrome 10 [RCV001335548]\|not provided [RCV002070202]	likely benign\|uncertain significance	8	125357201	125357201	Human	1	name
152109002	CV1520148	single nucleotide variant	NM_173685.4(NSMCE2):c.158-17A>G	not provided [RCV002134239]	benign	8	125151154	125151154	Human		name
153305330	CV1687667	single nucleotide variant	NM_173685.4(NSMCE2):c.418+27C>T	NSMCE2-related disorder [RCV003916432]\|not provided [RCV002263488]	benign\|likely benign	8	125182283	125182283	Human	1	name , trait , alternate_id
156379104	CV1953809	single nucleotide variant	NM_173685.4(NSMCE2):c.626+11G>A	not provided [RCV002583041]	likely benign	8	125357829	125357829	Human		name
156351721	CV1985664	single nucleotide variant	NM_173685.4(NSMCE2):c.265-11G>A	not provided [RCV002632024]	likely benign	8	125182092	125182092	Human		name
156289938	CV1998142	single nucleotide variant	NM_173685.4(NSMCE2):c.519+16A>G	not provided [RCV002647153]	likely benign	8	125357335	125357335	Human		name
156149217	CV2037548	single nucleotide variant	NM_173685.4(NSMCE2):c.626+14G>T	not provided [RCV002786794]	likely benign	8	125357832	125357832	Human		name
156285704	CV2050165	single nucleotide variant	NM_173685.4(NSMCE2):c.418+20T>A	not provided [RCV002807146]	likely benign	8	125182276	125182276	Human		name
155948778	CV2127320	single nucleotide variant	NM_173685.4(NSMCE2):c.265-14G>A	not provided [RCV002971739]	likely benign	8	125182089	125182089	Human		name
402470123	CV2931350	single nucleotide variant	NM_173685.4(NSMCE2):c.419-15T>G	not provided [RCV003570288]	likely benign	8	125357204	125357204	Human		name
405176254	CV2951924	single nucleotide variant	NM_173685.4(NSMCE2):c.520-18A>G	not provided [RCV003675855]	likely benign	8	125357694	125357694	Human		name
402490834	CV2980931	single nucleotide variant	NM_173685.4(NSMCE2):c.519+16A>T	not provided [RCV003713757]	likely benign	8	125357335	125357335	Human		name
405133749	CV3018364	single nucleotide variant	NM_173685.4(NSMCE2):c.158-14T>G	not provided [RCV003701923]	likely benign	8	125151157	125151157	Human		name
405074533	CV3140681	single nucleotide variant	NM_173685.4(NSMCE2):c.158-20G>A	not provided [RCV003833644]	likely benign	8	125151151	125151151	Human		name
405209654	CV3145883	single nucleotide variant	NM_173685.4(NSMCE2):c.519+14C>T	not provided [RCV003845613]	likely benign	8	125357333	125357333	Human		name
597852740	CV3743430	single nucleotide variant	NM_173685.4(NSMCE2):c.158-12T>A	not provided [RCV005060780]	likely benign	8	125151159	125151159	Human		name
597876369	CV3766601	single nucleotide variant	NM_173685.4(NSMCE2):c.158-12T>C	not provided [RCV005108541]	likely benign	8	125151159	125151159	Human		name
597891153	CV3805079	single nucleotide variant	NM_173685.4(NSMCE2):c.418+10C>T	not provided [RCV005151341]	likely benign	8	125182266	125182266	Human		name
8649951	CV126525	single nucleotide variant	NM_173685.2(NSMCE2):c.419-26284A>T	Lung cancer [RCV000107012]	uncertain significance	8	125330935	125330935	Human		name
597895981	CV3773516	single nucleotide variant	NM_173685.4(NSMCE2):c.24T>C (p.Asn8=)	not provided [RCV005111423]	likely benign	8	125102354	125102354	Human		name
152118361	CV1659020	deletion	NM_173685.4(NSMCE2):c.265-19_265-16del	not provided [RCV002175236]	likely benign	8	125182084	125182087	Human		name
156417561	CV1967031	single nucleotide variant	NM_173685.4(NSMCE2):c.63G>A (p.Glu21=)	not provided [RCV002590255]	likely benign	8	125102393	125102393	Human		name
156393770	CV2181653	single nucleotide variant	NM_173685.4(NSMCE2):c.84A>G (p.Lys28=)	not provided [RCV003051617]	likely benign	8	125102414	125102414	Human		name
405137173	CV2963098	single nucleotide variant	NM_173685.4(NSMCE2):c.36T>C (p.Thr12=)	not provided [RCV003668823]	likely benign	8	125102366	125102366	Human		name
597830466	CV3743021	single nucleotide variant	NM_173685.4(NSMCE2):c.51C>T (p.Phe17=)	not provided [RCV005062029]	likely benign	8	125102381	125102381	Human		name
597847965	CV3762048	single nucleotide variant	NM_173685.4(NSMCE2):c.93A>G (p.Gln31=)	not provided [RCV005087466]	likely benign	8	125102423	125102423	Human		name
597885839	CV3842233	single nucleotide variant	NM_173685.4(NSMCE2):c.69T>C (p.Ala23=)	not provided [RCV005178868]	likely benign	8	125102399	125102399	Human		name
156343321	CV1981666	single nucleotide variant	NM_173685.4(NSMCE2):c.240G>A (p.Lys80=)	not provided [RCV002631542]	likely benign	8	125151253	125151253	Human		name
402473666	CV2857879	single nucleotide variant	NM_173685.4(NSMCE2):c.20C>G (p.Ser7Ter)	not provided [RCV003542998]	pathogenic	8	125102350	125102350	Human		name
597707659	CV3577065	single nucleotide variant	NM_173685.4(NSMCE2):c.10C>T (p.Arg4Cys)	not specified [RCV004840476]	uncertain significance	8	125102340	125102340	Human		name
151848489	CV1433630	single nucleotide variant	NM_173685.4(NSMCE2):c.588C>T (p.Arg196=)	not provided [RCV001978610]	likely benign\|uncertain significance	8	125357780	125357780	Human		name
151774872	CV1455750	single nucleotide variant	NM_173685.4(NSMCE2):c.47C>T (p.Ser16Phe)	not provided [RCV002045593]	uncertain significance	8	125102377	125102377	Human		name
152111696	CV1552584	single nucleotide variant	NM_173685.4(NSMCE2):c.738C>T (p.Ser246=)	not provided [RCV002134567]	likely benign	8	125366879	125366879	Human		name
152103307	CV1560653	single nucleotide variant	NM_173685.4(NSMCE2):c.576C>T (p.Asp192=)	NSMCE2-related disorder [RCV003970965]\|not provided [RCV002152071]	benign\|likely benign	8	125357768	125357768	Human	1	name , trait , alternate_id
152124118	CV1563023	single nucleotide variant	NM_173685.4(NSMCE2):c.579C>A (p.Ala193=)	not provided [RCV002118219]	likely benign	8	125357771	125357771	Human		name
156443877	CV1941152	single nucleotide variant	NM_173685.4(NSMCE2):c.38G>A (p.Gly13Asp)	not provided [RCV003114788]	uncertain significance	8	125102368	125102368	Human		name
156085461	CV1987581	single nucleotide variant	NM_173685.4(NSMCE2):c.393A>G (p.Gln131=)	not provided [RCV002621681]	likely benign	8	125182231	125182231	Human		name
156349374	CV2005520	single nucleotide variant	NM_173685.4(NSMCE2):c.654G>A (p.Thr218=)	not provided [RCV002650767]	likely benign	8	125366795	125366795	Human		name
156205485	CV2011199	single nucleotide variant	NM_173685.4(NSMCE2):c.34A>G (p.Thr12Ala)	not provided [RCV002700428]	uncertain significance	8	125102364	125102364	Human		name
401930740	CV2828501	single nucleotide variant	NM_173685.4(NSMCE2):c.447C>T (p.Asp149=)	not provided [RCV003440634]	likely benign	8	125357247	125357247	Human		name
405125350	CV2958320	single nucleotide variant	NM_173685.4(NSMCE2):c.384G>A (p.Gln128=)	not provided [RCV003667868]	likely benign	8	125182222	125182222	Human		name
405225744	CV3142413	single nucleotide variant	NM_173685.4(NSMCE2):c.690A>G (p.Ala230=)	not provided [RCV003847952]	likely benign	8	125366831	125366831	Human		name
405228918	CV3153416	single nucleotide variant	NM_173685.4(NSMCE2):c.567T>C (p.Tyr189=)	not provided [RCV003848480]	likely benign	8	125357759	125357759	Human		name
405285462	CV3212539	single nucleotide variant	NM_173685.4(NSMCE2):c.735T>C (p.His245=)	NSMCE2-related disorder [RCV003959118]\|not provided [RCV005102923]	likely benign	8	125366876	125366876	Human	1	name , trait , alternate_id
15188041	CV722842	single nucleotide variant	NM_173685.4(NSMCE2):c.483C>T (p.Thr161=)	NSMCE2-related disorder [RCV003975593]\|not provided [RCV000887420]	benign\|likely benign	8	125357283	125357283	Human	1	name , trait , alternate_id
151797906	CV1336962	single nucleotide variant	NM_173685.4(NSMCE2):c.291A>G (p.Ile97Met)	not provided [RCV002047711]	uncertain significance	8	125182129	125182129	Human		name
151888220	CV1434518	single nucleotide variant	NM_173685.4(NSMCE2):c.118A>G (p.Thr40Ala)	not provided [RCV001887916]	uncertain significance	8	125102448	125102448	Human		name
155699776	CV1778926	single nucleotide variant	NM_173685.4(NSMCE2):c.277C>T (p.Arg93Cys)	not provided [RCV002299891]	uncertain significance	8	125182115	125182115	Human		name
156408443	CV1870044	single nucleotide variant	NM_173685.4(NSMCE2):c.170G>A (p.Ser57Asn)	not provided [RCV003071269]	uncertain significance	8	125151183	125151183	Human		name
156042683	CV1977902	single nucleotide variant	NM_173685.4(NSMCE2):c.214G>A (p.Asp72Asn)	not provided [RCV002590386]	uncertain significance	8	125151227	125151227	Human		name
156209038	CV1986985	single nucleotide variant	NM_173685.4(NSMCE2):c.218G>A (p.Arg73Gln)	not provided [RCV002626011]	uncertain significance	8	125151231	125151231	Human		name
156228402	CV2115561	single nucleotide variant	NM_173685.4(NSMCE2):c.217C>T (p.Arg73Trp)	not provided [RCV002918839]	likely benign	8	125151230	125151230	Human		name
156035290	CV2123186	single nucleotide variant	NM_173685.4(NSMCE2):c.114G>C (p.Met38Ile)	not provided [RCV002949403]	uncertain significance	8	125102444	125102444	Human		name
156295534	CV2321512	single nucleotide variant	NM_173685.4(NSMCE2):c.145G>A (p.Val49Met)	not specified [RCV004177481]	uncertain significance	8	125102475	125102475	Human		name
401782513	CV2719854	single nucleotide variant	NM_173685.4(NSMCE2):c.216T>A (p.Asp72Glu)	not specified [RCV004329268]	uncertain significance	8	125151229	125151229	Human		name
401862867	CV2779051	single nucleotide variant	NM_173685.4(NSMCE2):c.181A>G (p.Met61Val)	not specified [RCV004348694]	uncertain significance	8	125151194	125151194	Human		name
407517092	CV3462073	single nucleotide variant	NM_173685.4(NSMCE2):c.125C>T (p.Ser42Phe)	not specified [RCV004650518]	uncertain significance	8	125102455	125102455	Human		name
407517097	CV3462075	single nucleotide variant	NM_173685.4(NSMCE2):c.241G>A (p.Ala81Thr)	not specified [RCV004650520]	uncertain significance	8	125151254	125151254	Human		name
407477029	CV3462076	single nucleotide variant	NM_173685.4(NSMCE2):c.214G>T (p.Asp72Tyr)	not specified [RCV004638749]	uncertain significance	8	125151227	125151227	Human		name
12742008	CV359193	deletion	NM_173685.4(NSMCE2):c.346del (p.Ser116fs)	Seckel syndrome 10 [RCV000412505]\|not provided [RCV002523902]	pathogenic	8	125182183	125182183	Human	1	name
598264944	CV3994759	single nucleotide variant	NM_173685.4(NSMCE2):c.196G>C (p.Val66Leu)	not specified [RCV005387858]	uncertain significance	8	125151209	125151209	Human		name
151808052	CV1337189	single nucleotide variant	NM_173685.4(NSMCE2):c.587G>T (p.Arg196Leu)	not provided [RCV002028704]	uncertain significance	8	125357779	125357779	Human		name
151822703	CV1351298	single nucleotide variant	NM_173685.4(NSMCE2):c.577G>A (p.Ala193Thr)	Seckel syndrome 10 [RCV003492713]\|not provided [RCV001992938]	uncertain significance	8	125357769	125357769	Human	1	name
151885798	CV1367013	single nucleotide variant	NM_173685.4(NSMCE2):c.611G>A (p.Arg204Gln)	not provided [RCV002000556]	uncertain significance	8	125357803	125357803	Human		name
151838265	CV1383162	single nucleotide variant	NM_173685.4(NSMCE2):c.653C>T (p.Thr218Met)	not provided [RCV001921223]\|not specified [RCV004043520]	uncertain significance	8	125366794	125366794	Human		name
151822887	CV1415877	single nucleotide variant	NM_173685.4(NSMCE2):c.609G>T (p.Lys203Asn)	not provided [RCV001901061]\|not specified [RCV004041540]	uncertain significance	8	125357801	125357801	Human		name
151833784	CV1439457	single nucleotide variant	NM_173685.4(NSMCE2):c.554G>A (p.Cys185Tyr)	not provided [RCV001976912]	uncertain significance	8	125357746	125357746	Human		name
152035205	CV1552872	single nucleotide variant	NM_173685.4(NSMCE2):c.658A>G (p.Ile220Val)	not provided [RCV002187378]	likely benign	8	125366799	125366799	Human		name
156397127	CV1980676	single nucleotide variant	NM_173685.4(NSMCE2):c.622G>A (p.Ala208Thr)	not provided [RCV002605232]	uncertain significance	8	125357814	125357814	Human		name
156307211	CV2123187	single nucleotide variant	NM_173685.4(NSMCE2):c.610C>T (p.Arg204Trp)	not provided [RCV002962423]\|not specified [RCV004837859]	uncertain significance	8	125357802	125357802	Human		name
156021771	CV2148193	single nucleotide variant	NM_173685.4(NSMCE2):c.379G>T (p.Val127Leu)	not provided [RCV003018265]	uncertain significance	8	125182217	125182217	Human		name
155983751	CV2240772	single nucleotide variant	NM_173685.4(NSMCE2):c.497A>C (p.Asn166Thr)	not specified [RCV004119381]	uncertain significance	8	125357297	125357297	Human		name
156190467	CV2339585	single nucleotide variant	NM_173685.4(NSMCE2):c.730C>A (p.Arg244Ser)	not specified [RCV004194250]	uncertain significance	8	125366871	125366871	Human		name
405127263	CV3013782	single nucleotide variant	NM_173685.4(NSMCE2):c.574G>A (p.Asp192Asn)	not provided [RCV003701334]	uncertain significance	8	125357766	125357766	Human		name
405710626	CV3359448	single nucleotide variant	NM_173685.4(NSMCE2):c.511A>G (p.Ile171Val)	not specified [RCV004493796]	uncertain significance	8	125357311	125357311	Human		name
407517100	CV3462077	single nucleotide variant	NM_173685.4(NSMCE2):c.653C>G (p.Thr218Arg)	not specified [RCV004650521]	uncertain significance	8	125366794	125366794	Human		name
597707669	CV3577066	single nucleotide variant	NM_173685.4(NSMCE2):c.677T>C (p.Ile226Thr)	not specified [RCV004840477]	uncertain significance	8	125366818	125366818	Human		name
597643250	CV3577067	single nucleotide variant	NM_173685.4(NSMCE2):c.577G>T (p.Ala193Ser)	not specified [RCV004832577]	uncertain significance	8	125357769	125357769	Human		name
597909754	CV3749565	single nucleotide variant	NM_173685.4(NSMCE2):c.730C>T (p.Arg244Cys)	not provided [RCV005073413]	uncertain significance	8	125366871	125366871	Human		name
14722602	CV636583	single nucleotide variant	NM_173685.4(NSMCE2):c.394C>T (p.Gln132Ter)	not provided [RCV000813994]	pathogenic\|likely pathogenic	8	125182232	125182232	Human		name
15197161	CV722841	single nucleotide variant	NM_173685.4(NSMCE2):c.377T>G (p.Phe126Cys)	NSMCE2-related disorder [RCV003968109]\|not provided [RCV000889978]	benign	8	125182215	125182215	Human	1	name , trait , alternate_id
28912264	CV861144	single nucleotide variant	NM_173685.4(NSMCE2):c.465T>G (p.Asp155Glu)	Global developmental delay [RCV001093634]	uncertain significance	8	125357265	125357265	Human	2	name
156028139	CV2156209	deletion	NM_173685.4(NSMCE2):c.47_49del (p.Ser16del)	not provided [RCV003018555]	uncertain significance	8	125102375	125102377	Human		name
405157943	CV2961064	deletion	NM_173685.4(NSMCE2):c.466_470del (p.Glu156fs)	not provided [RCV003670523]	pathogenic	8	125357266	125357270	Human		name
12742021	CV359194	duplication	NM_173685.4(NSMCE2):c.697_700dup (p.Ala234fs)	Seckel syndrome 10 [RCV000412587]	pathogenic	8	125366837	125366838	Human	1	name
597708988	CV3732868	microsatellite	NM_173685.4(NSMCE2):c.303ATT[1] (p.Leu103del)	Seckel syndrome 10 [RCV005051226]	uncertain significance	8	125182141	125182143	Human		name

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