Tmem165 Variant Search Result - Rat Genome Database

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182 records found for search term Tmem165

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
11658029	CV293685	single nucleotide variant	NM_018475.4(TMEM165):c.-253C>T	Congenital disorder of glycosylation [RCV000346134]	uncertain significance	4	55395937	55395937	Human	1	name
11584976	CV293686	single nucleotide variant	NM_018475.5(TMEM165):c.*236A>G	TMEM165-congenital disorder of glycosylation [RCV000277934]	uncertain significance	4	55425688	55425688	Human	1	name , trait , alternate_id
11591861	CV293694	single nucleotide variant	NM_018475.5(TMEM165):c.*397G>A	Congenital disorder of glycosylation [RCV000333075]\|not provided [RCV004695806]	uncertain significance	4	55425849	55425849	Human	1	name
11584472	CV293697	single nucleotide variant	NM_018475.5(TMEM165):c.*494T>C	Congenital disorder of glycosylation [RCV000274211]	likely benign	4	55425946	55425946	Human	1	name
11591458	CV295101	single nucleotide variant	NM_018475.5(TMEM165):c.*505T>A	TMEM165-congenital disorder of glycosylation [RCV000329361]	benign\|uncertain significance	4	55425957	55425957	Human	1	name , trait , alternate_id
11662204	CV298728	duplication	NM_018475.5(TMEM165):c.*568dup	Congenital disorder of glycosylation [RCV000383951]	uncertain significance	4	55426010	55426011	Human	1	name
11663724	CV298755	single nucleotide variant	NM_018475.4(TMEM165):c.-252C>A	Congenital disorder of glycosylation [RCV000398840]	uncertain significance	4	55395938	55395938	Human	1	name
11596873	CV298767	single nucleotide variant	NM_018475.5(TMEM165):c.*482A>T	Congenital disorder of glycosylation [RCV000387530]\|not provided [RCV004710995]	likely benign	4	55425934	55425934	Human	1	name
28902190	CV891877	single nucleotide variant	NM_018475.5(TMEM165):c.-147T>C	TMEM165-congenital disorder of glycosylation [RCV001157023]\|not provided [RCV001725213]	benign	4	55396043	55396043	Human	1	name , trait , alternate_id
28898516	CV891883	single nucleotide variant	NM_018475.5(TMEM165):c.*121T>A	TMEM165-congenital disorder of glycosylation [RCV001155460]	uncertain significance	4	55425573	55425573	Human	1	name , trait , alternate_id
150422077	CV891884	single nucleotide variant	NM_018475.5(TMEM165):c.*132A>C	not provided [RCV001552323]	likely benign	4	55425584	55425584	Human		name
150478016	CV891885	single nucleotide variant	NM_018475.5(TMEM165):c.*153T>C	not provided [RCV001589871]	likely benign	4	55425605	55425605	Human		name
28902480	CV891887	single nucleotide variant	NM_018475.5(TMEM165):c.*436T>C	TMEM165-congenital disorder of glycosylation [RCV001157136]	uncertain significance	4	55425888	55425888	Human	1	name , trait , alternate_id
28888192	CV891888	single nucleotide variant	NM_018475.5(TMEM165):c.*627A>C	TMEM165-congenital disorder of glycosylation [RCV001151687]	uncertain significance	4	55426079	55426079	Human	1	name , trait , alternate_id
28888195	CV891889	single nucleotide variant	NM_018475.5(TMEM165):c.*643A>G	TMEM165-congenital disorder of glycosylation [RCV001151688]	uncertain significance	4	55426095	55426095	Human	1	name , trait , alternate_id
126765782	CV1005404	single nucleotide variant	NM_018475.5(TMEM165):c.207+3G>A	TMEM165-congenital disorder of glycosylation [RCV001320180]	uncertain significance	4	55396399	55396399	Human	1	name , trait , alternate_id
151766198	CV1348568	single nucleotide variant	NM_018475.5(TMEM165):c.898+3A>G	TMEM165-congenital disorder of glycosylation [RCV001895884]	uncertain significance	4	55424646	55424646	Human	1	name , trait , alternate_id
151821022	CV1425569	single nucleotide variant	NM_018475.5(TMEM165):c.899-6T>G	TMEM165-congenital disorder of glycosylation [RCV001954760]	uncertain significance	4	55425370	55425370	Human	1	name , trait , alternate_id
152123352	CV1546196	deletion	NM_018475.5(TMEM165):c.208-5del	TMEM165-congenital disorder of glycosylation [RCV002118128]	benign	4	55411600	55411600	Human	1	name , trait , alternate_id
152157395	CV1630539	duplication	NM_018475.5(TMEM165):c.208-5dup	TMEM165-congenital disorder of glycosylation [RCV002122607]	benign	4	55411599	55411600	Human	1	name , trait , alternate_id
156316268	CV2104141	single nucleotide variant	NM_018475.5(TMEM165):c.609+7C>T	TMEM165-congenital disorder of glycosylation [RCV002937466]	likely benign	4	55417254	55417254	Human	1	name , trait , alternate_id
156185790	CV2178650	single nucleotide variant	NM_018475.5(TMEM165):c.433+7G>A	TMEM165-congenital disorder of glycosylation [RCV003057672]	likely benign	4	55411846	55411846	Human	1	name , trait , alternate_id
402511448	CV2953673	single nucleotide variant	NM_018475.5(TMEM165):c.898+8T>A	TMEM165-congenital disorder of glycosylation [RCV003646078]	likely benign	4	55424651	55424651	Human	1	name , trait , alternate_id
11593952	CV298727	deletion	NM_018475.5(TMEM165):c.2_3del	Congenital disorder of glycosylation [RCV000353993]\|TMEM165-congenital disorder of glycosylation [RCV000987449]\|TMEM165-related disorder [RCV003983028]\|not provided [RCV001672644]	benign	4	55425454	55425455	Human	2	name , trait , alternate_id
404993408	CV3132307	single nucleotide variant	NM_018475.5(TMEM165):c.899-9C>G	TMEM165-congenital disorder of glycosylation [RCV003827245]	likely benign	4	55425367	55425367	Human	1	name , trait , alternate_id
405283529	CV3202695	single nucleotide variant	NM_018475.5(TMEM165):c.433+9G>A	TMEM165-related disorder [RCV003921802]	likely benign	4	55411848	55411848	Human		name , trait , alternate_id
597871398	CV3835675	single nucleotide variant	NM_018475.5(TMEM165):c.208-9T>G	TMEM165-congenital disorder of glycosylation [RCV005176666]	likely benign	4	55411605	55411605	Human	1	name , trait , alternate_id
15192797	CV774972	single nucleotide variant	NM_018475.5(TMEM165):c.208-9T>C	not provided [RCV000933183]	likely benign	4	55411605	55411605	Human		name
150469503	CV1243168	single nucleotide variant	NM_018475.5(TMEM165):c.899-64C>T	not provided [RCV001650687]	benign	4	55425312	55425312	Human		name
152083391	CV1526353	single nucleotide variant	NM_018475.5(TMEM165):c.793-13C>T	TMEM165-congenital disorder of glycosylation [RCV002170840]	likely benign	4	55424525	55424525	Human	1	name , trait , alternate_id
152124114	CV1527621	single nucleotide variant	NM_018475.5(TMEM165):c.434-11A>G	TMEM165-congenital disorder of glycosylation [RCV002081972]	likely benign	4	55417061	55417061	Human	1	name , trait , alternate_id
152161158	CV1555290	single nucleotide variant	NM_018475.5(TMEM165):c.793-12G>A	TMEM165-congenital disorder of glycosylation [RCV002103821]	likely benign	4	55424526	55424526	Human	1	name , trait , alternate_id
156001890	CV1872945	single nucleotide variant	NM_018475.5(TMEM165):c.207+16T>C	TMEM165-congenital disorder of glycosylation [RCV003076629]	likely benign	4	55396412	55396412	Human	1	name , trait , alternate_id
156436023	CV1937291	single nucleotide variant	NM_018475.5(TMEM165):c.208-15A>T	TMEM165-congenital disorder of glycosylation [RCV003105153]	likely benign	4	55411599	55411599	Human	1	name , trait , alternate_id
156122648	CV2039942	single nucleotide variant	NM_018475.5(TMEM165):c.208-16G>A	TMEM165-congenital disorder of glycosylation [RCV002785852]	likely benign	4	55411598	55411598	Human	1	name , trait , alternate_id
156300452	CV2075884	single nucleotide variant	NM_018475.5(TMEM165):c.899-14T>C	TMEM165-congenital disorder of glycosylation [RCV002857144]	likely benign	4	55425362	55425362	Human	1	name , trait , alternate_id
156230503	CV2093785	single nucleotide variant	NM_018475.5(TMEM165):c.898+19A>C	TMEM165-congenital disorder of glycosylation [RCV002894534]	likely benign	4	55424662	55424662	Human	1	name , trait , alternate_id
11587923	CV295097	single nucleotide variant	NM_018475.5(TMEM165):c.899-15T>C	Congenital disorder of glycosylation [RCV000298646]\|TMEM165-congenital disorder of glycosylation [RCV001513867]\|not provided [RCV004717524]\|not specified [RCV000430766]	benign	4	55425361	55425361	Human	2	name , trait , alternate_id
11588358	CV298722	single nucleotide variant	NM_018475.5(TMEM165):c.433+15C>A	TMEM165-congenital disorder of glycosylation [RCV000302259]\|not specified [RCV000431053]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	4	55411854	55411854	Human	1	name , trait , alternate_id
402514139	CV2990602	duplication	NM_018475.5(TMEM165):c.793-16dup	TMEM165-congenital disorder of glycosylation [RCV003646418]	likely benign	4	55424521	55424522	Human	1	name , trait , alternate_id
405151880	CV3142110	single nucleotide variant	NM_018475.5(TMEM165):c.898+16T>C	TMEM165-congenital disorder of glycosylation [RCV003840032]	likely benign	4	55424659	55424659	Human	1	name , trait , alternate_id
405062549	CV3148370	single nucleotide variant	NM_018475.5(TMEM165):c.433+17C>T	TMEM165-congenital disorder of glycosylation [RCV003850326]	likely benign	4	55411856	55411856	Human	1	name , trait , alternate_id
12847868	CV369144	single nucleotide variant	NM_018475.5(TMEM165):c.899-17T>A	TMEM165-congenital disorder of glycosylation [RCV002058912]\|not specified [RCV000444252]	likely benign	4	55425359	55425359	Human	1	name , trait , alternate_id
12834578	CV369147	single nucleotide variant	NM_018475.5(TMEM165):c.899-11C>G	TMEM165-congenital disorder of glycosylation [RCV005055970]\|not specified [RCV000420189]	likely benign	4	55425365	55425365	Human	1	name , trait , alternate_id
597973237	CV3790870	single nucleotide variant	NM_018475.5(TMEM165):c.792+11T>A	TMEM165-congenital disorder of glycosylation [RCV005143085]	likely benign	4	55417996	55417996	Human	1	name , trait , alternate_id
14740173	CV660313	single nucleotide variant	NM_018475.5(TMEM165):c.433+20T>G	not provided [RCV000840227]	likely benign	4	55411859	55411859	Human		name
150515417	CV1217485	single nucleotide variant	NM_018475.5(TMEM165):c.793-147C>T	not provided [RCV001608391]	benign	4	55424391	55424391	Human		name
150483090	CV1223532	single nucleotide variant	NM_018475.5(TMEM165):c.793-209C>T	not provided [RCV001617246]	benign	4	55424329	55424329	Human		name
150430715	CV1231017	single nucleotide variant	NM_018475.5(TMEM165):c.793-268T>C	not provided [RCV001641566]	benign	4	55424270	55424270	Human		name
150438644	CV1238051	single nucleotide variant	NM_018475.5(TMEM165):c.793-132T>C	not provided [RCV001644549]	benign	4	55424406	55424406	Human		name
150433975	CV1243836	single nucleotide variant	NM_018475.5(TMEM165):c.792+479C>T	not provided [RCV001665042]	benign	4	55418464	55418464	Human		name
150486008	CV1274084	single nucleotide variant	NM_018475.5(TMEM165):c.207+178C>G	not provided [RCV001698851]	benign	4	55396574	55396574	Human		name
150505689	CV1286254	single nucleotide variant	NM_018475.5(TMEM165):c.898+314A>G	not provided [RCV001719680]	benign	4	55424957	55424957	Human		name
150548259	CV1316181	single nucleotide variant	NM_018475.5(TMEM165):c.207+131G>A	not provided [RCV001785982]	likely benign	4	55396527	55396527	Human		name
150548710	CV1316482	single nucleotide variant	NM_018475.5(TMEM165):c.208-148G>A	not provided [RCV001786284]	likely benign	4	55411466	55411466	Human		name
153002383	CV1685502	single nucleotide variant	NM_018475.5(TMEM165):c.208-230C>T	not provided [RCV002259489]	likely benign	4	55411384	55411384	Human		name
8569103	CV44195	single nucleotide variant	NM_018475.5(TMEM165):c.792+182G>A	TMEM165-congenital disorder of glycosylation [RCV000029179]	pathogenic	4	55418167	55418167	Human	1	name , trait , alternate_id
12901327	CV406445	microsatellite	NM_018475.5(TMEM165):c.899-14TC[3]	TMEM165-congenital disorder of glycosylation [RCV002063761]\|not provided [RCV001704625]	likely benign	4	55425362	55425363	Human		name , trait , alternate_id
10049525	CV190559	single nucleotide variant	NM_018475.5(TMEM165):c.18A>G (p.Pro6=)	Congenital disorder of glycosylation [RCV000306007]\|TMEM165-congenital disorder of glycosylation [RCV001513866]\|not provided [RCV004715749]\|not specified [RCV000173465]	benign	4	55396207	55396207	Human	2	name , trait , alternate_id
12843839	CV368024	single nucleotide variant	NM_018475.5(TMEM165):c.27C>G (p.Gly9=)	not specified [RCV000436949]	likely benign	4	55396216	55396216	Human		name
13533157	CV500542	single nucleotide variant	NM_018475.5(TMEM165):c.15T>C (p.Ala5=)	TMEM165-congenital disorder of glycosylation [RCV002064149]\|TMEM165-related disorder [RCV003962789]\|not specified [RCV000607007]	likely benign	4	55396204	55396204	Human	1	name , trait , alternate_id
152064995	CV1535917	single nucleotide variant	NM_018475.5(TMEM165):c.96G>T (p.Arg32=)	TMEM165-congenital disorder of glycosylation [RCV002168519]\|TMEM165-related disorder [RCV003903446]\|not provided [RCV003438957]	benign\|likely benign	4	55396285	55396285	Human	1	name , trait , alternate_id
152150492	CV1663055	single nucleotide variant	NM_018475.5(TMEM165):c.63G>C (p.Leu21=)	TMEM165-congenital disorder of glycosylation [RCV002158114]	likely benign	4	55396252	55396252	Human	1	name , trait , alternate_id
156300557	CV1929580	single nucleotide variant	NM_018475.5(TMEM165):c.30C>G (p.Arg10=)	TMEM165-congenital disorder of glycosylation [RCV002647617]	likely benign	4	55396219	55396219	Human	1	name , trait , alternate_id
156058399	CV1999818	single nucleotide variant	NM_018475.5(TMEM165):c.8C>T (p.Ala3Val)	TMEM165-congenital disorder of glycosylation [RCV002659603]	uncertain significance	4	55396197	55396197	Human	1	name , trait , alternate_id
597957746	CV3755153	deletion	NM_018475.5(TMEM165):c.899-16_899-14del	TMEM165-congenital disorder of glycosylation [RCV005080823]	likely benign	4	55425356	55425358	Human	1	name , trait , alternate_id
597975759	CV3828683	single nucleotide variant	NM_018475.5(TMEM165):c.81C>T (p.Ala27=)	TMEM165-congenital disorder of glycosylation [RCV005169312]	likely benign	4	55396270	55396270	Human	1	name , trait , alternate_id
597901777	CV3845491	single nucleotide variant	NM_018475.5(TMEM165):c.46C>T (p.Leu16=)	TMEM165-congenital disorder of glycosylation [RCV005181301]	likely benign	4	55396235	55396235	Human	1	name , trait , alternate_id
14743570	CV655604	single nucleotide variant	NM_018475.5(TMEM165):c.54G>A (p.Leu18=)	TMEM165-congenital disorder of glycosylation [RCV002067551]\|not provided [RCV000842148]	likely benign	4	55396243	55396243	Human	1	name , trait , alternate_id
156085374	CV2095070	single nucleotide variant	NM_018475.5(TMEM165):c.138G>A (p.Pro46=)	TMEM165-congenital disorder of glycosylation [RCV002912844]	likely benign	4	55396327	55396327	Human	1	name , trait , alternate_id
156029327	CV2125376	single nucleotide variant	NM_018475.5(TMEM165):c.123C>T (p.His41=)	TMEM165-congenital disorder of glycosylation [RCV002949156]	likely benign	4	55396312	55396312	Human	1	name , trait , alternate_id
12837604	CV367643	single nucleotide variant	NM_018475.5(TMEM165):c.294C>T (p.Val98=)	TMEM165-congenital disorder of glycosylation [RCV000871493]\|not provided [RCV001720039]	likely benign\|conflicting interpretations of pathogenicity	4	55411700	55411700	Human	1	name , trait , alternate_id
597850274	CV3761773	single nucleotide variant	NM_018475.5(TMEM165):c.189C>G (p.Pro63=)	TMEM165-congenital disorder of glycosylation [RCV005087869]	likely benign	4	55396378	55396378	Human	1	name , trait , alternate_id
597972548	CV3790376	single nucleotide variant	NM_018475.5(TMEM165):c.156G>A (p.Gln52=)	TMEM165-congenital disorder of glycosylation [RCV005142799]	likely benign	4	55396345	55396345	Human	1	name , trait , alternate_id
597931301	CV3827083	single nucleotide variant	NM_018475.5(TMEM165):c.189C>T (p.Pro63=)	TMEM165-congenital disorder of glycosylation [RCV005157096]	likely benign	4	55396378	55396378	Human	1	name , trait , alternate_id
597946975	CV3841783	single nucleotide variant	NM_018475.5(TMEM165):c.183G>A (p.Gln61=)	TMEM165-congenital disorder of glycosylation [RCV005189217]	likely benign	4	55396372	55396372	Human	1	name , trait , alternate_id
597863457	CV3860714	single nucleotide variant	NM_018475.5(TMEM165):c.288A>T (p.Ala96=)	TMEM165-congenital disorder of glycosylation [RCV005196242]	likely benign	4	55411694	55411694	Human	1	name , trait , alternate_id
13529001	CV500824	single nucleotide variant	NM_018475.5(TMEM165):c.199C>A (p.Arg67=)	not specified [RCV000605607]	likely benign	4	55396388	55396388	Human		name
15151449	CV734663	single nucleotide variant	NM_018475.5(TMEM165):c.204C>G (p.Val68=)	TMEM165-congenital disorder of glycosylation [RCV001405072]	likely benign	4	55396393	55396393	Human	1	name , trait , alternate_id
126736112	CV1019990	single nucleotide variant	NM_018475.5(TMEM165):c.40C>T (p.Pro14Ser)	TMEM165-congenital disorder of glycosylation [RCV001335006]\|not specified [RCV004679083]	uncertain significance	4	55396229	55396229	Human	1	name , trait , alternate_id
150417000	CV1179848	microsatellite	NM_018475.5(TMEM165):c.433+148_433+162del	not provided [RCV001549922]	likely benign	4	55411971	55411985	Human		name
151820422	CV1416164	single nucleotide variant	NM_018475.5(TMEM165):c.41C>T (p.Pro14Leu)	TMEM165-congenital disorder of glycosylation [RCV001919515]	uncertain significance	4	55396230	55396230	Human	1	name , trait , alternate_id
151776428	CV1463858	single nucleotide variant	NM_018475.5(TMEM165):c.97G>A (p.Ala33Thr)	TMEM165-congenital disorder of glycosylation [RCV001896835]	uncertain significance	4	55396286	55396286	Human	1	name , trait , alternate_id
152048217	CV1519878	single nucleotide variant	NM_018475.5(TMEM165):c.507T>A (p.Ile169=)	TMEM165-congenital disorder of glycosylation [RCV002145334]	likely benign	4	55417145	55417145	Human	1	name , trait , alternate_id
152076870	CV1607081	single nucleotide variant	NM_018475.5(TMEM165):c.816T>G (p.Gly272=)	TMEM165-congenital disorder of glycosylation [RCV002130339]	likely benign	4	55424561	55424561	Human	1	name , trait , alternate_id
155683966	CV1776847	single nucleotide variant	NM_018475.5(TMEM165):c.82C>G (p.Pro28Ala)	TMEM165-congenital disorder of glycosylation [RCV002298379]	uncertain significance	4	55396271	55396271	Human	1	name , trait , alternate_id
156407362	CV1871760	single nucleotide variant	NM_018475.5(TMEM165):c.778T>C (p.Leu260=)	TMEM165-congenital disorder of glycosylation [RCV003070834]	likely benign	4	55417971	55417971	Human	1	name , trait , alternate_id
156378894	CV1876766	single nucleotide variant	NM_018475.5(TMEM165):c.723T>C (p.Leu241=)	TMEM165-congenital disorder of glycosylation [RCV003066989]	likely benign	4	55417916	55417916	Human	1	name , trait , alternate_id
156287201	CV1900718	single nucleotide variant	NM_018475.5(TMEM165):c.384C>T (p.Thr128=)	TMEM165-congenital disorder of glycosylation [RCV002598602]	likely benign	4	55411790	55411790	Human	1	name , trait , alternate_id
156177440	CV1953222	single nucleotide variant	NM_018475.5(TMEM165):c.35C>G (p.Ser12Trp)	TMEM165-congenital disorder of glycosylation [RCV002574007]	uncertain significance	4	55396224	55396224	Human	1	name , trait , alternate_id
156338390	CV1984631	single nucleotide variant	NM_018475.5(TMEM165):c.43C>T (p.Arg15Trp)	TMEM165-congenital disorder of glycosylation [RCV002631303]	uncertain significance	4	55396232	55396232	Human	1	name , trait , alternate_id
156206353	CV2074034	single nucleotide variant	NM_018475.5(TMEM165):c.495A>G (p.Val165=)	TMEM165-congenital disorder of glycosylation [RCV002829132]	likely benign	4	55417133	55417133	Human	1	name , trait , alternate_id
156100671	CV2132269	single nucleotide variant	NM_018475.5(TMEM165):c.462C>A (p.Ile154=)	TMEM165-congenital disorder of glycosylation [RCV003002200]	likely benign	4	55417100	55417100	Human	1	name , trait , alternate_id
156337167	CV2178256	single nucleotide variant	NM_018475.5(TMEM165):c.427T>C (p.Leu143=)	TMEM165-congenital disorder of glycosylation [RCV003047539]	likely benign	4	55411833	55411833	Human	1	name , trait , alternate_id
156075710	CV2291437	single nucleotide variant	NM_018475.5(TMEM165):c.74T>C (p.Leu25Pro)	not specified [RCV004155766]	uncertain significance	4	55396263	55396263	Human		name
405073547	CV2857042	single nucleotide variant	NM_018475.5(TMEM165):c.639G>A (p.Pro213=)	TMEM165-congenital disorder of glycosylation [RCV003533875]	likely benign	4	55417832	55417832	Human	1	name , trait , alternate_id
405073472	CV2863742	single nucleotide variant	NM_018475.5(TMEM165):c.849G>A (p.Leu283=)	TMEM165-congenital disorder of glycosylation [RCV003533870]	likely benign	4	55424594	55424594	Human	1	name , trait , alternate_id
402515307	CV3011604	single nucleotide variant	NM_018475.5(TMEM165):c.777A>G (p.Val259=)	TMEM165-congenital disorder of glycosylation [RCV003646544]	likely benign	4	55417970	55417970	Human	1	name , trait , alternate_id
402521019	CV3064206	single nucleotide variant	NM_018475.5(TMEM165):c.831C>T (p.His277=)	TMEM165-congenital disorder of glycosylation [RCV003647011]	likely benign	4	55424576	55424576	Human	1	name , trait , alternate_id
405289632	CV3220972	single nucleotide variant	NM_018475.5(TMEM165):c.489A>C (p.Ser163=)	TMEM165-related disorder [RCV003961870]	likely benign	4	55417127	55417127	Human		name , trait , alternate_id
12835172	CV369139	single nucleotide variant	NM_018475.5(TMEM165):c.603T>C (p.Asp201=)	TMEM165-congenital disorder of glycosylation [RCV002063467]\|not specified [RCV000421231]	likely benign	4	55417241	55417241	Human	1	name , trait , alternate_id
597837525	CV3758050	insertion	NM_018475.5(TMEM165):c.899-16_899-15insCT	TMEM165-congenital disorder of glycosylation [RCV005085884]	likely benign	4	55425359	55425360	Human	1	name , trait , alternate_id
597936443	CV3764845	single nucleotide variant	NM_018475.5(TMEM165):c.936A>G (p.Ala312=)	TMEM165-congenital disorder of glycosylation [RCV005117544]	likely benign	4	55425413	55425413	Human	1	name , trait , alternate_id
597954508	CV3795797	single nucleotide variant	NM_018475.5(TMEM165):c.810C>T (p.Ala270=)	TMEM165-congenital disorder of glycosylation [RCV005136807]	likely benign	4	55424555	55424555	Human	1	name , trait , alternate_id
597847310	CV3828015	single nucleotide variant	NM_018475.5(TMEM165):c.837G>A (p.Leu279=)	TMEM165-congenital disorder of glycosylation [RCV005173090]	likely benign	4	55424582	55424582	Human	1	name , trait , alternate_id
597917760	CV3842139	single nucleotide variant	NM_018475.5(TMEM165):c.925T>C (p.Leu309=)	TMEM165-congenital disorder of glycosylation [RCV005183814]	likely benign	4	55425402	55425402	Human	1	name , trait , alternate_id
597888865	CV3859569	single nucleotide variant	NM_018475.5(TMEM165):c.918C>T (p.Ile306=)	TMEM165-congenital disorder of glycosylation [RCV005200225]	likely benign	4	55425395	55425395	Human	1	name , trait , alternate_id
598213267	CV3917455	single nucleotide variant	NM_018475.5(TMEM165):c.49C>T (p.Leu17Phe)	not specified [RCV005292284]	uncertain significance	4	55396238	55396238	Human		name
15108725	CV691595	single nucleotide variant	NM_018475.5(TMEM165):c.921T>G (p.Val307=)	TMEM165-congenital disorder of glycosylation [RCV000871749]\|TMEM165-related disorder [RCV003975433]	benign\|likely benign	4	55425398	55425398	Human	1	name , trait , alternate_id
15120197	CV748986	single nucleotide variant	NM_018475.5(TMEM165):c.930G>A (p.Ala310=)	TMEM165-congenital disorder of glycosylation [RCV002540935]	likely benign	4	55425407	55425407	Human	1	name , trait , alternate_id
15197620	CV764559	single nucleotide variant	NM_018475.5(TMEM165):c.660A>C (p.Thr220=)	TMEM165-congenital disorder of glycosylation [RCV001478200]	likely benign	4	55417853	55417853	Human	1	name , trait , alternate_id
38598625	CV891878	single nucleotide variant	NM_018475.5(TMEM165):c.52C>A (p.Leu18Met)	TMEM165-congenital disorder of glycosylation [RCV001253902]\|not provided [RCV004719118]\|not specified [RCV004035337]	uncertain significance	4	55396241	55396241	Human	1	name , trait , alternate_id
38598626	CV891879	single nucleotide variant	NM_018475.5(TMEM165):c.92T>C (p.Val31Ala)	TMEM165-congenital disorder of glycosylation [RCV001253903]	uncertain significance	4	55396281	55396281	Human	1	name , trait , alternate_id
28896335	CV891881	single nucleotide variant	NM_018475.5(TMEM165):c.351A>G (p.Ala117=)	TMEM165-congenital disorder of glycosylation [RCV001154622]	conflicting interpretations of pathogenicity\|uncertain significance	4	55411757	55411757	Human	1	name , trait , alternate_id
126914447	CV1042885	single nucleotide variant	NM_018475.5(TMEM165):c.164C>A (p.Pro55Gln)	TMEM165-congenital disorder of glycosylation [RCV001370476]	uncertain significance	4	55396353	55396353	Human	1	name , trait , alternate_id
151774396	CV1427943	single nucleotide variant	NM_018475.5(TMEM165):c.226G>C (p.Ala76Pro)	TMEM165-congenital disorder of glycosylation [RCV001915291]	uncertain significance	4	55411632	55411632	Human	1	name , trait , alternate_id
151834358	CV1429025	single nucleotide variant	NM_018475.5(TMEM165):c.191A>G (p.Glu64Gly)	TMEM165-congenital disorder of glycosylation [RCV001994029]	uncertain significance	4	55396380	55396380	Human	1	name , trait , alternate_id
155726408	CV1773674	single nucleotide variant	NM_018475.5(TMEM165):c.143C>T (p.Ala48Val)	TMEM165-congenital disorder of glycosylation [RCV002301464]	uncertain significance	4	55396332	55396332	Human	1	name , trait , alternate_id
156327610	CV1880970	single nucleotide variant	NM_018475.5(TMEM165):c.295G>A (p.Ala99Thr)	TMEM165-congenital disorder of glycosylation [RCV003063497]	uncertain significance	4	55411701	55411701	Human	1	name , trait , alternate_id
156416644	CV1976739	single nucleotide variant	NM_018475.5(TMEM165):c.163C>G (p.Pro55Ala)	TMEM165-congenital disorder of glycosylation [RCV002589798]	uncertain significance	4	55396352	55396352	Human	1	name , trait , alternate_id
156259029	CV2000334	single nucleotide variant	NM_018475.5(TMEM165):c.124C>T (p.Arg42Trp)	TMEM165-congenital disorder of glycosylation [RCV002627702]	uncertain significance	4	55396313	55396313	Human	1	name , trait , alternate_id
156111401	CV2034994	single nucleotide variant	NM_018475.5(TMEM165):c.242A>G (p.Asn81Ser)	TMEM165-congenital disorder of glycosylation [RCV002761709]	uncertain significance	4	55411648	55411648	Human	1	name , trait , alternate_id
156236545	CV2239027	single nucleotide variant	NM_018475.5(TMEM165):c.133G>C (p.Glu45Gln)	not specified [RCV004109906]	uncertain significance	4	55396322	55396322	Human		name
243062991	CV2414110	single nucleotide variant	NM_018475.5(TMEM165):c.196G>T (p.Ala66Ser)	TMEM165-congenital disorder of glycosylation [RCV003141029]	uncertain significance	4	55396385	55396385	Human	1	name , trait , alternate_id
329359921	CV2462377	single nucleotide variant	NM_018475.5(TMEM165):c.166C>G (p.Gln56Glu)	not specified [RCV004268142]	uncertain significance	4	55396355	55396355	Human		name
405055912	CV2895024	single nucleotide variant	NM_018475.5(TMEM165):c.185G>T (p.Gly62Val)	TMEM165-congenital disorder of glycosylation [RCV003531571]	uncertain significance	4	55396374	55396374	Human	1	name , trait , alternate_id
402511376	CV2960385	single nucleotide variant	NM_018475.5(TMEM165):c.218C>T (p.Thr73Ile)	TMEM165-congenital disorder of glycosylation [RCV003646085]	uncertain significance	4	55411624	55411624	Human	1	name , trait , alternate_id
407453389	CV3486433	single nucleotide variant	NM_018475.5(TMEM165):c.256G>A (p.Ala86Thr)	not specified [RCV004684527]	uncertain significance	4	55411662	55411662	Human		name
597892393	CV3809785	single nucleotide variant	NM_018475.5(TMEM165):c.170C>T (p.Pro57Leu)	TMEM165-congenital disorder of glycosylation [RCV005151506]	uncertain significance	4	55396359	55396359	Human	1	name , trait , alternate_id
597839978	CV3825234	single nucleotide variant	NM_018475.5(TMEM165):c.232G>A (p.Val78Ile)	TMEM165-congenital disorder of glycosylation [RCV005171917]	uncertain significance	4	55411638	55411638	Human	1	name , trait , alternate_id
598213276	CV3917457	single nucleotide variant	NM_018475.5(TMEM165):c.209A>G (p.Lys70Arg)	not specified [RCV005292286]	uncertain significance	4	55411615	55411615	Human		name
13832991	CV584218	single nucleotide variant	NM_018475.5(TMEM165):c.151C>T (p.Gln51Ter)	not provided [RCV000728115]	likely pathogenic	4	55396340	55396340	Human		name
38598627	CV891880	single nucleotide variant	NM_018475.5(TMEM165):c.199C>T (p.Arg67Trp)	TMEM165-congenital disorder of glycosylation [RCV001253904]	uncertain significance	4	55396388	55396388	Human	1	name , trait , alternate_id
126919704	CV1042886	single nucleotide variant	NM_018475.5(TMEM165):c.952A>G (p.Ile318Val)	TMEM165-congenital disorder of glycosylation [RCV001373387]	uncertain significance	4	55425429	55425429	Human	1	name , trait , alternate_id
151794884	CV1393105	single nucleotide variant	NM_018475.5(TMEM165):c.811G>A (p.Val271Met)	TMEM165-congenital disorder of glycosylation [RCV001952390]	uncertain significance	4	55424556	55424556	Human	1	name , trait , alternate_id
151789649	CV1394269	single nucleotide variant	NM_018475.5(TMEM165):c.824T>C (p.Val275Ala)	TMEM165-congenital disorder of glycosylation [RCV002046977]\|not specified [RCV004038844]	uncertain significance	4	55424569	55424569	Human	1	name , trait , alternate_id
151774194	CV1424262	single nucleotide variant	NM_018475.5(TMEM165):c.731C>T (p.Thr244Ile)	TMEM165-congenital disorder of glycosylation [RCV002045534]\|not specified [RCV004046095]	uncertain significance	4	55417924	55417924	Human	1	name , trait , alternate_id
151821091	CV1443216	single nucleotide variant	NM_018475.5(TMEM165):c.690G>C (p.Leu230Phe)	TMEM165-congenital disorder of glycosylation [RCV002049808]	uncertain significance	4	55417883	55417883	Human	1	name , trait , alternate_id
151817320	CV1456963	single nucleotide variant	NM_018475.5(TMEM165):c.833G>A (p.Cys278Tyr)	TMEM165-congenital disorder of glycosylation [RCV001900538]	uncertain significance	4	55424578	55424578	Human	1	name , trait , alternate_id
151878220	CV1493669	single nucleotide variant	NM_018475.5(TMEM165):c.653C>T (p.Thr218Met)	TMEM165-congenital disorder of glycosylation [RCV001982175]\|not provided [RCV004694002]	uncertain significance	4	55417846	55417846	Human	1	name , trait , alternate_id
151876107	CV1508037	single nucleotide variant	NM_018475.5(TMEM165):c.652A>G (p.Thr218Ala)	TMEM165-congenital disorder of glycosylation [RCV001961061]	uncertain significance	4	55417845	55417845	Human	1	name , trait , alternate_id
156029300	CV1903228	single nucleotide variant	NM_018475.5(TMEM165):c.929C>T (p.Ala310Val)	TMEM165-congenital disorder of glycosylation [RCV003100576]	uncertain significance	4	55425406	55425406	Human	1	name , trait , alternate_id
156400525	CV1907854	single nucleotide variant	NM_018475.5(TMEM165):c.527G>A (p.Arg176Gln)	TMEM165-congenital disorder of glycosylation [RCV002584826]	uncertain significance	4	55417165	55417165	Human	1	name , trait , alternate_id
156436121	CV1937340	single nucleotide variant	NM_018475.5(TMEM165):c.772A>G (p.Ile258Val)	TMEM165-congenital disorder of glycosylation [RCV003105204]	uncertain significance	4	55417965	55417965	Human	1	name , trait , alternate_id
156322816	CV1976283	single nucleotide variant	NM_018475.5(TMEM165):c.712G>A (p.Val238Ile)	TMEM165-congenital disorder of glycosylation [RCV002600342]	uncertain significance	4	55417905	55417905	Human	1	name , trait , alternate_id
156237218	CV1999640	single nucleotide variant	NM_018475.5(TMEM165):c.612T>G (p.Phe204Leu)	TMEM165-congenital disorder of glycosylation [RCV002667800]	uncertain significance	4	55417805	55417805	Human	1	name , trait , alternate_id
156328619	CV2116269	single nucleotide variant	NM_018475.5(TMEM165):c.724A>T (p.Thr242Ser)	TMEM165-congenital disorder of glycosylation [RCV002938235]	uncertain significance	4	55417917	55417917	Human	1	name , trait , alternate_id
156317688	CV2140459	single nucleotide variant	NM_018475.5(TMEM165):c.400A>G (p.Met134Val)	TMEM165-congenital disorder of glycosylation [RCV003011491]	uncertain significance	4	55411806	55411806	Human	1	name , trait , alternate_id
156348036	CV2191402	single nucleotide variant	NM_018475.5(TMEM165):c.464C>G (p.Pro155Arg)	TMEM165-congenital disorder of glycosylation [RCV003048123]	uncertain significance	4	55417102	55417102	Human	1	name , trait , alternate_id
156093783	CV2213204	single nucleotide variant	NM_018475.5(TMEM165):c.469G>T (p.Val157Phe)	not specified [RCV004085430]	uncertain significance	4	55417107	55417107	Human		name
156126185	CV2237751	single nucleotide variant	NM_018475.5(TMEM165):c.661A>G (p.Ser221Gly)	not specified [RCV004100530]	uncertain significance	4	55417854	55417854	Human		name
156179741	CV2288038	single nucleotide variant	NM_018475.5(TMEM165):c.700T>C (p.Ser234Pro)	not specified [RCV004147795]	uncertain significance	4	55417893	55417893	Human		name
401770945	CV2700774	single nucleotide variant	NM_018475.5(TMEM165):c.734T>C (p.Phe245Ser)	not specified [RCV004307059]	uncertain significance	4	55417927	55417927	Human		name
401758015	CV2708078	single nucleotide variant	NM_018475.5(TMEM165):c.712G>C (p.Val238Leu)	not specified [RCV004309320]	uncertain significance	4	55417905	55417905	Human		name
405064683	CV2929561	single nucleotide variant	NM_018475.5(TMEM165):c.747G>A (p.Trp249Ter)	TMEM165-congenital disorder of glycosylation [RCV003532482]	pathogenic	4	55417940	55417940	Human	1	name , trait , alternate_id
11594217	CV295081	single nucleotide variant	NM_018475.5(TMEM165):c.506T>C (p.Ile169Thr)	TMEM165-congenital disorder of glycosylation [RCV000357045]	uncertain significance	4	55417144	55417144	Human	1	name , trait , alternate_id
11582764	CV298726	single nucleotide variant	NM_018475.5(TMEM165):c.602A>G (p.Asp201Gly)	TMEM165-congenital disorder of glycosylation [RCV000262152]\|not provided [RCV004695805]	uncertain significance	4	55417240	55417240	Human	1	name , trait , alternate_id
402522530	CV3070923	single nucleotide variant	NM_018475.5(TMEM165):c.402G>A (p.Met134Ile)	TMEM165-congenital disorder of glycosylation [RCV003647139]	uncertain significance	4	55411808	55411808	Human	1	name , trait , alternate_id
405243370	CV3164806	single nucleotide variant	NM_018475.5(TMEM165):c.781G>A (p.Ala261Thr)	TMEM165-congenital disorder of glycosylation [RCV003867887]	uncertain significance	4	55417974	55417974	Human	1	name , trait , alternate_id
405794627	CV3336057	single nucleotide variant	NM_018475.5(TMEM165):c.581A>C (p.Gln194Pro)	not specified [RCV004475302]	uncertain significance	4	55417219	55417219	Human		name
405794631	CV3336058	single nucleotide variant	NM_018475.5(TMEM165):c.904A>C (p.Ile302Leu)	not specified [RCV004475303]	uncertain significance	4	55425381	55425381	Human		name
405794635	CV3336059	single nucleotide variant	NM_018475.5(TMEM165):c.917T>C (p.Ile306Thr)	not specified [RCV004475304]	uncertain significance	4	55425394	55425394	Human		name
597753091	CV3616939	single nucleotide variant	NM_018475.5(TMEM165):c.914G>C (p.Gly305Ala)	not specified [RCV004867300]	uncertain significance	4	55425391	55425391	Human		name
597753096	CV3616940	single nucleotide variant	NM_018475.5(TMEM165):c.531A>C (p.Glu177Asp)	not specified [RCV004867301]	uncertain significance	4	55417169	55417169	Human		name
597753101	CV3616941	single nucleotide variant	NM_018475.5(TMEM165):c.545G>A (p.Ser182Asn)	not specified [RCV004867302]	uncertain significance	4	55417183	55417183	Human		name
598213262	CV3917454	single nucleotide variant	NM_018475.5(TMEM165):c.604G>A (p.Glu202Lys)	not specified [RCV005292283]	uncertain significance	4	55417242	55417242	Human		name
598213272	CV3917456	single nucleotide variant	NM_018475.5(TMEM165):c.385G>A (p.Val129Met)	not specified [RCV005292285]	uncertain significance	4	55411791	55411791	Human		name
598213281	CV3917458	single nucleotide variant	NM_018475.5(TMEM165):c.920T>G (p.Val307Gly)	not specified [RCV005292287]	uncertain significance	4	55425397	55425397	Human		name
8569104	CV44196	single nucleotide variant	NM_018475.5(TMEM165):c.377G>A (p.Arg126His)	TMEM165-congenital disorder of glycosylation [RCV000029180]	pathogenic	4	55411783	55411783	Human	1	name , trait , alternate_id
8569105	CV44197	single nucleotide variant	NM_018475.5(TMEM165):c.376C>T (p.Arg126Cys)	TMEM165-congenital disorder of glycosylation [RCV000029181]\|not provided [RCV002251428]	pathogenic\|likely pathogenic\|uncertain significance	4	55411782	55411782	Human	1	name , trait , alternate_id
8569106	CV44198	single nucleotide variant	NM_018475.5(TMEM165):c.910G>A (p.Gly304Arg)	TMEM165-congenital disorder of glycosylation [RCV000029182]	pathogenic	4	55425387	55425387	Human	1	name , trait , alternate_id
13473163	CV453965	single nucleotide variant	NM_018475.5(TMEM165):c.892A>G (p.Arg298Gly)	TMEM165-congenital disorder of glycosylation [RCV000525251]	uncertain significance	4	55424637	55424637	Human	1	name , trait , alternate_id
13832992	CV584219	single nucleotide variant	NM_018475.5(TMEM165):c.725C>A (p.Thr242Lys)	not provided [RCV000728116]	uncertain significance	4	55417918	55417918	Human		name
15174144	CV679058	single nucleotide variant	NM_018475.5(TMEM165):c.782C>A (p.Ala261Glu)	Aganglionic megacolon [RCV000984698]	uncertain significance	4	55417975	55417975	Human	2	name
28898513	CV891882	single nucleotide variant	NM_018475.5(TMEM165):c.617G>A (p.Arg206Gln)	TMEM165-congenital disorder of glycosylation [RCV001155459]	uncertain significance	4	55417810	55417810	Human	1	name , trait , alternate_id
38496413	CV953826	single nucleotide variant	NM_018475.5(TMEM165):c.811G>T (p.Val271Leu)	TMEM165-congenital disorder of glycosylation [RCV001242544]	uncertain significance	4	55424556	55424556	Human	1	name , trait , alternate_id
151834511	CV1446841	insertion	NM_018475.5(TMEM165):c.792+4_792+5insTATTTGA	TMEM165-congenital disorder of glycosylation [RCV002031139]	uncertain significance	4	55417986	55417987	Human	1	name , trait , alternate_id
150472683	CV1235099	insertion	NM_018475.5(TMEM165):c.898+131_898+132insATAA	not provided [RCV001651468]	benign	4	55424773	55424774	Human		name
156225164	CV2121768	indel	NM_018475.5(TMEM165):c.17_18delinsGG (p.Pro6Arg)	TMEM165-congenital disorder of glycosylation [RCV002958297]	uncertain significance	4	55396206	55396207	Human		name , trait , alternate_id
156110326	CV2092848	deletion	NM_018475.5(TMEM165):c.733_738del (p.Phe245_Leu246del)	TMEM165-congenital disorder of glycosylation [RCV002913749]	uncertain significance	4	55417925	55417930	Human	1	name , trait , alternate_id
151892703	CV1493936	duplication	NC_000004.11:g.(?_55124936)_(57798318_?)dup	TMEM165-congenital disorder of glycosylation [RCV003120758]\|not provided [RCV001944395]	uncertain significance\|no classifications from unflagged records				Human	1	trait , alternate_id
156448358	CV1946384	deletion	NC_000004.11:g.(?_55124936)_(57368027_?)del	TMEM165-congenital disorder of glycosylation [RCV003119917]\|not provided [RCV003119918]	pathogenic\|uncertain significance\|no classifications from unflagged records				Human	1	trait , alternate_id

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