Tmco1 Variant Search Result - Rat Genome Database

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69 records found for search term Tmco1

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
150510184	CV1286719	single nucleotide variant	NM_019026.6(TMCO1):c.-90G>A	not provided [RCV001720954]	benign	1	165768841	165768841	Human		name
150545168	CV1315456	deletion	NM_019026.6(TMCO1):c.-33del	Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 [RCV001783873]	likely pathogenic	1	165768784	165768784	Human	1	name
156269953	CV2102883	single nucleotide variant	NM_019026.6(TMCO1):c.-76C>G	not provided [RCV002895890]	uncertain significance	1	165768827	165768827	Human		name
156039526	CV2121363	single nucleotide variant	NM_019026.6(TMCO1):c.-50G>A	not provided [RCV002923857]	uncertain significance	1	165768801	165768801	Human		name
405212359	CV3063205	single nucleotide variant	NM_019026.6(TMCO1):c.-69C>T	not provided [RCV003732188]	uncertain significance	1	165768820	165768820	Human		name
596947234	CV3548784	single nucleotide variant	NM_019026.6(TMCO1):c.-34C>G	not provided [RCV004811108]	likely benign	1	165768785	165768785	Human		name
15201740	CV745811	single nucleotide variant	NM_019026.6(TMCO1):c.-66T>C	not provided [RCV000913229]	benign\|likely benign	1	165768817	165768817	Human		name
151792732	CV1422963	single nucleotide variant	NM_019026.6(TMCO1):c.-117A>G	not provided [RCV001916972]	uncertain significance	1	165768868	165768868	Human		name
156129040	CV2036472	single nucleotide variant	NM_019026.6(TMCO1):c.70+5G>C	not provided [RCV002786096]	uncertain significance	1	165768677	165768677	Human		name
405113979	CV3115376	single nucleotide variant	NM_019026.6(TMCO1):c.70+7G>A	not provided [RCV003814058]	likely benign	1	165768675	165768675	Human		name
127302904	CV1130577	single nucleotide variant	NM_019026.6(TMCO1):c.324-7C>T	not provided [RCV001499216]	likely benign	1	165743318	165743318	Human		name
156269131	CV1915184	single nucleotide variant	NM_019026.6(TMCO1):c.256-7A>G	not provided [RCV002628029]	likely benign	1	165752176	165752176	Human		name
10450098	CV215660	single nucleotide variant	NM_019026.6(TMCO1):c.323+3G>C	Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 [RCV000203247]	pathogenic	1	165752099	165752099	Human	1	name
597884278	CV3745456	single nucleotide variant	NM_019026.6(TMCO1):c.70+15T>C	not provided [RCV005070292]	likely benign	1	165768667	165768667	Human		name
597952181	CV3847569	single nucleotide variant	NM_019026.6(TMCO1):c.468+9T>C	not provided [RCV005190551]	likely benign	1	165743158	165743158	Human		name
15155579	CV777049	deletion	NM_019026.6(TMCO1):c.324-8del	not provided [RCV000946519]\|not specified [RCV001702862]	benign	1	165743319	165743319	Human		name
15170467	CV777052	duplication	NM_019026.6(TMCO1):c.324-8dup	not provided [RCV000949655]	benign	1	165743318	165743319	Human		name
150423110	CV1182804	single nucleotide variant	NM_019026.6(TMCO1):c.323+36A>G	not provided [RCV001554888]	likely benign	1	165752066	165752066	Human		name
150428325	CV1186072	single nucleotide variant	NM_019026.6(TMCO1):c.256-12G>A	Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 [RCV002501906]\|not provided [RCV001562117]	benign\|likely benign	1	165752181	165752181	Human	1	name
150512827	CV1213035	single nucleotide variant	NM_019026.6(TMCO1):c.71-198G>C	not provided [RCV001598268]	benign	1	165768467	165768467	Human		name
150455154	CV1220419	single nucleotide variant	NM_019026.6(TMCO1):c.256-83T>A	not provided [RCV001612512]	benign	1	165752252	165752252	Human		name
150496314	CV1272856	deletion	NM_019026.6(TMCO1):c.256-35del	not provided [RCV001688779]	benign	1	165752204	165752204	Human		name
150486034	CV1274105	deletion	NM_019026.6(TMCO1):c.256-83del	not provided [RCV001698856]	benign	1	165752252	165752252	Human		name
597846471	CV3753033	single nucleotide variant	NM_019026.6(TMCO1):c.208+20A>G	not provided [RCV005087258]	likely benign	1	165759505	165759505	Human		name
150422612	CV1179137	single nucleotide variant	NM_019026.6(TMCO1):c.468+129T>C	not provided [RCV001552879]	likely benign	1	165743038	165743038	Human		name
150406466	CV1192734	duplication	NM_019026.6(TMCO1):c.256-103dup	not provided [RCV001572029]	likely benign	1	165752252	165752253	Human		name
150432307	CV1200602	single nucleotide variant	NM_019026.6(TMCO1):c.208+286A>G	not provided [RCV001581325]	likely benign	1	165759239	165759239	Human		name
150434038	CV1204248	single nucleotide variant	NM_019026.6(TMCO1):c.256-187G>T	not provided [RCV001581997]	likely benign	1	165752356	165752356	Human		name
150489571	CV1208465	deletion	NM_019026.6(TMCO1):c.255+261del	not provided [RCV001592326]	likely benign	1	165753967	165753967	Human		name
150498625	CV1224168	single nucleotide variant	NM_019026.6(TMCO1):c.209-215A>G	not provided [RCV001620281]	benign	1	165754489	165754489	Human		name
150434236	CV1243900	single nucleotide variant	NM_019026.6(TMCO1):c.148+136T>C	not provided [RCV001665107]	likely benign	1	165768056	165768056	Human		name
150474522	CV1263373	single nucleotide variant	NM_019026.6(TMCO1):c.209-259T>C	not provided [RCV001684896]	benign	1	165754533	165754533	Human		name
150441070	CV1267017	duplication	NM_019026.6(TMCO1):c.469-153dup	not provided [RCV001690453]	benign	1	165728260	165728261	Human		name
150449540	CV1273647	single nucleotide variant	NM_019026.6(TMCO1):c.323+116A>G	not provided [RCV001691747]	benign	1	165751986	165751986	Human		name
598204533	CV3896675	duplication	NM_019026.6(TMCO1):c.-54_-35dup	Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 [RCV005356878]	likely pathogenic	1	165768785	165768786	Human	1	name
150470662	CV1248041	duplication	NM_019026.6(TMCO1):c.256-43_256-42dup	not provided [RCV001671077]	benign	1	165752203	165752204	Human		name
597962542	CV3791457	single nucleotide variant	NM_019026.6(TMCO1):c.247C>T (p.Leu83=)	not provided [RCV005139211]	likely benign	1	165754236	165754236	Human		name
8568791	CV40057	microsatellite	NM_001256165.1(TMCO1):c.-252_-251GA[1]	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome [RCV000024096]	pathogenic	1	165768764	165768765	Human		name , alternate_id
13831520	CV582018	duplication	NM_019026.6(TMCO1):c.26dup (p.Leu10fs)	not provided [RCV000722200]	uncertain significance	1	165768725	165768726	Human		name
126732526	CV1019217	deletion	NM_019026.6(TMCO1):c.110del (p.Lys37fs)	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome [RCV001334042]	pathogenic	1	165768230	165768230	Human		name , alternate_id
150505364	CV1222873	single nucleotide variant	NM_019026.6(TMCO1):c.486C>T (p.Leu162=)	Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 [RCV001838710]\|not provided [RCV001621807]	benign	1	165728104	165728104	Human	1	name
151235912	CV1319340	duplication	NM_019026.6(TMCO1):c.256-145_256-144dup	not provided [RCV001797285]	likely benign	1	165752312	165752313	Human		name
151352276	CV1322362	duplication	NM_019026.6(TMCO1):c.147dup (p.Leu50fs)	not provided [RCV001806986]	likely pathogenic	1	165768192	165768193	Human		name
153302747	CV1689240	single nucleotide variant	NM_019026.6(TMCO1):c.70G>C (p.Gly24Arg)	Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 [RCV002267201]	pathogenic	1	165768682	165768682	Human	1	name
155644573	CV1710294	single nucleotide variant	NM_019026.6(TMCO1):c.70G>A (p.Gly24Ser)	Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 [RCV002293406]	likely pathogenic	1	165768682	165768682	Human	1	name
155920130	CV2254996	single nucleotide variant	NM_019026.6(TMCO1):c.52A>C (p.Thr18Pro)	Inborn genetic diseases [RCV002772884]	uncertain significance	1	165768700	165768700	Human	1	name
405199928	CV3041164	single nucleotide variant	NM_019026.6(TMCO1):c.417A>G (p.Thr139=)	not provided [RCV003707344]	likely benign	1	165743218	165743218	Human		name
404987050	CV3135511	single nucleotide variant	NM_019026.6(TMCO1):c.507C>T (p.Ala169=)	not provided [RCV003826806]	likely benign	1	165728083	165728083	Human		name
596945390	CV3547887	single nucleotide variant	NM_019026.6(TMCO1):c.333T>C (p.Gly111=)	not provided [RCV004809218]	likely benign	1	165743302	165743302	Human		name
597628367	CV3620284	single nucleotide variant	NM_019026.6(TMCO1):c.47T>A (p.Val16Glu)	Inborn genetic diseases [RCV004966815]	uncertain significance	1	165768705	165768705	Human	1	name
28877625	CV861559	single nucleotide variant	NM_019026.6(TMCO1):c.44C>T (p.Ser15Phe)	Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 [RCV001095669]	uncertain significance	1	165768708	165768708	Human	1	name
155998841	CV2045424	single nucleotide variant	NM_019026.6(TMCO1):c.260G>C (p.Arg87Pro)	not provided [RCV002756098]	uncertain significance	1	165752165	165752165	Human		name
11559816	CV259635	single nucleotide variant	NM_019026.6(TMCO1):c.187C>T (p.Arg63Ter)	Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 [RCV000851185]\|not provided [RCV000255045]	pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	1	165759546	165759546	Human	1	name
8573644	CV94316	single nucleotide variant	NM_019026.6(TMCO1):c.259C>T (p.Arg87Ter)	Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 [RCV000074398]	pathogenic	1	165752166	165752166	Human	1	name
153002419	CV1685538	single nucleotide variant	NM_019026.6(TMCO1):c.383T>C (p.Leu128Pro)	not provided [RCV002259525]	uncertain significance	1	165743252	165743252	Human		name
10042534	CV187105	deletion	NM_019026.6(TMCO1):c.87_90del (p.Val30fs)	Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 [RCV000169680]	pathogenic	1	165768250	165768253	Human	1	name
156168990	CV1956165	single nucleotide variant	NM_019026.6(TMCO1):c.458C>T (p.Ser153Leu)	Inborn genetic diseases [RCV005288760]\|not provided [RCV002573754]	uncertain significance	1	165743177	165743177	Human	1	name
156072872	CV2263679	single nucleotide variant	NM_019026.6(TMCO1):c.367T>C (p.Ser123Pro)	Inborn genetic diseases [RCV002823550]	uncertain significance	1	165743268	165743268	Human	1	name
156173285	CV2284061	single nucleotide variant	NM_019026.6(TMCO1):c.340G>T (p.Val114Leu)	Inborn genetic diseases [RCV002873225]	uncertain significance	1	165743295	165743295	Human	1	name
156245992	CV2310493	single nucleotide variant	NM_019026.6(TMCO1):c.337G>C (p.Val113Leu)	Inborn genetic diseases [RCV002919622]	uncertain significance	1	165743298	165743298	Human	1	name
405785189	CV3343199	single nucleotide variant	NM_019026.6(TMCO1):c.533T>C (p.Leu178Pro)	Inborn genetic diseases [RCV004472685]	uncertain significance	1	165728057	165728057	Human	1	name
597929897	CV3745782	single nucleotide variant	NM_019026.6(TMCO1):c.376C>T (p.Gln126Ter)	not provided [RCV005075767]	pathogenic	1	165743259	165743259	Human		name
598211357	CV3920935	single nucleotide variant	NM_019026.6(TMCO1):c.413C>T (p.Thr138Ile)	Inborn genetic diseases [RCV005291996]	uncertain significance	1	165743222	165743222	Human	1	name
13530216	CV511188	single nucleotide variant	NM_019026.6(TMCO1):c.391C>T (p.Arg131Ter)	Inborn genetic diseases [RCV000622321]	pathogenic	1	165743244	165743244	Human	1	name
13532949	CV511189	single nucleotide variant	NM_019026.6(TMCO1):c.372C>A (p.Tyr124Ter)	Inborn genetic diseases [RCV000624718]	pathogenic	1	165743263	165743263	Human	1	name
13832639	CV590035	single nucleotide variant	NM_019026.6(TMCO1):c.463C>T (p.Arg155Ter)	Cerebro-facio-thoracic dysplasia [RCV003389727]\|Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 [RCV001030791]\|not provided [RCV004794447]	pathogenic\|likely pathogenic	1	165743172	165743172	Human	1	name
13831478	CV590034	deletion	NM_019026.6(TMCO1):c.493_494del (p.Ala165fs)	not provided [RCV005251180]	likely pathogenic	1	165728096	165728097	Human		name
150553580	CV1303589	deletion	NM_019026.6(TMCO1):c.106_111del (p.Tyr36_Lys37del)	not provided [RCV001769279]	uncertain significance	1	165768229	165768234	Human		name
12894073	CV404973	microsatellite	NM_019026.6(TMCO1):c.139_140del (p.Gln46_Ser47insTer)	Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 [RCV000677638]\|Inborn genetic diseases [RCV001266610]\|TMCO1-related disorder [RCV003419799]\|not provided [RCV000481400]	pathogenic\|likely pathogenic	1	165768200	165768201	Human		name , trait , alternate_id

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