Mn1 Variant Search Result - Rat Genome Database

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386 records found for search term Mn1

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
151864477	CV1336854	translocation	MN1-ETV6 fusion	Acute myeloid leukemia [RCV002034880]	pathogenic				Human		name
150337019	CV1173468	deletion	NM_002430.3(MN1):c.-732del	not provided [RCV001541353]	benign	22	27801275	27801275	Human		name
150473604	CV1252434	duplication	NM_002430.3(MN1):c.*133dup	not provided [RCV001671636]	benign	22	27750781	27750782	Human		name
150493206	CV1257507	duplication	NM_002430.3(MN1):c.*134dup	not provided [RCV001675180]	benign	22	27750780	27750781	Human		name
150449739	CV1260861	deletion	NM_002430.3(MN1):c.*133del	not provided [RCV001680530]	benign	22	27750782	27750782	Human		name
150490769	CV1267668	single nucleotide variant	NM_002430.3(MN1):c.*133T>C	not provided [RCV001687692]	benign	22	27750782	27750782	Human		name
150512963	CV1213058	duplication	NM_002430.3(MN1):c.-795_-775dup	not provided [RCV001598291]	benign	22	27801317	27801318	Human		name
598160023	CV3897205	single nucleotide variant	NM_002430.3(MN1):c.25C>T (p.Pro9Ser)	CEBALID syndrome [RCV005415695]\|not provided [RCV005368179]	uncertain significance	22	27800519	27800519	Human	1	name , alternate_id
598200697	CV3986134	single nucleotide variant	NM_002430.3(MN1):c.16C>A (p.Gln6Lys)	Inborn genetic diseases [RCV005375897]	uncertain significance	22	27800528	27800528	Human	1	name
40816205	CV969196	single nucleotide variant	NM_002430.3(MN1):c.25C>G (p.Pro9Ala)	not specified [RCV001260360]	uncertain significance	22	27800519	27800519	Human		name
152059189	CV1670901	single nucleotide variant	NM_002430.3(MN1):c.56G>C (p.Gly19Ala)	CEBALID syndrome [RCV002226420]\|MN1-related disorder [RCV004753541]	uncertain significance\|not provided	22	27800488	27800488	Human	1	name , trait , alternate_id
156054941	CV2393140	single nucleotide variant	NM_002430.3(MN1):c.32T>G (p.Val11Gly)	Inborn genetic diseases [RCV002705179]	likely benign	22	27800512	27800512	Human	1	name
243054367	CV2418573	single nucleotide variant	NM_002430.3(MN1):c.35A>G (p.Asn12Ser)	not provided [RCV003154561]	uncertain significance	22	27800509	27800509	Human		name
329952180	CV2668891	single nucleotide variant	NM_002430.3(MN1):c.36C>A (p.Asn12Lys)	not specified [RCV003230975]	uncertain significance	22	27800508	27800508	Human		name
401741126	CV2680335	single nucleotide variant	NM_002430.3(MN1):c.31G>A (p.Val11Ile)	Inborn genetic diseases [RCV003251384]	likely benign	22	27800513	27800513	Human	1	name
401751145	CV2696238	single nucleotide variant	NM_002430.3(MN1):c.76A>G (p.Thr26Ala)	Inborn genetic diseases [RCV003253893]	likely benign	22	27800468	27800468	Human	1	name
401912331	CV2822094	single nucleotide variant	NM_002430.3(MN1):c.714G>A (p.Glu238=)	not provided [RCV003427194]	likely benign	22	27799830	27799830	Human		name
401912332	CV2822095	single nucleotide variant	NM_002430.3(MN1):c.510G>A (p.Pro170=)	not provided [RCV003427195]	likely benign	22	27800034	27800034	Human		name
401912334	CV2822096	single nucleotide variant	NM_002430.3(MN1):c.397C>T (p.Leu133=)	not provided [RCV003427196]	likely benign	22	27800147	27800147	Human		name
401912336	CV2822098	single nucleotide variant	NM_002430.3(MN1):c.56G>A (p.Gly19Asp)	MN1-related disorder [RCV003929120]\|not provided [RCV003427198]	benign\|likely benign	22	27800488	27800488	Human	1	name , trait , alternate_id
405282978	CV3218370	single nucleotide variant	NM_002430.3(MN1):c.552C>T (p.His184=)	MN1-related disorder [RCV003957182]	likely benign	22	27799992	27799992	Human		name , trait , alternate_id
616940025	CV4014249	single nucleotide variant	NM_002430.3(MN1):c.687C>T (p.Asp229=)	not provided [RCV005413742]	likely benign	22	27799857	27799857	Human		name
617153653	CV4016727	single nucleotide variant	NM_002430.3(MN1):c.40A>T (p.Arg14Trp)	not provided [RCV005415824]	uncertain significance	22	27800504	27800504	Human		name
15193170	CV729116	single nucleotide variant	NM_002430.3(MN1):c.306G>C (p.Pro102=)	not provided [RCV000888874]	benign	22	27800238	27800238	Human		name
15167101	CV742836	single nucleotide variant	NM_002430.3(MN1):c.450C>T (p.Ala150=)	not provided [RCV000904582]	likely benign	22	27800094	27800094	Human		name
151352063	CV1322266	single nucleotide variant	NM_002430.3(MN1):c.193A>G (p.Met65Val)	not provided [RCV001806889]	uncertain significance	22	27800351	27800351	Human		name
152978347	CV1671538	single nucleotide variant	NM_002430.3(MN1):c.2211G>A (p.Thr737=)	CEBALID syndrome [RCV002227643]	uncertain significance	22	27798333	27798333	Human	1	name , alternate_id
155267700	CV1705100	single nucleotide variant	NM_002430.3(MN1):c.1599A>G (p.Gln533=)	not provided [RCV002285705]	likely benign	22	27798945	27798945	Human		name
156165934	CV1866883	single nucleotide variant	NM_002430.3(MN1):c.151G>A (p.Ala51Thr)	not provided [RCV002508435]	uncertain significance	22	27800393	27800393	Human		name
156115314	CV2208989	single nucleotide variant	NM_002430.3(MN1):c.292C>T (p.His98Tyr)	Inborn genetic diseases [RCV002707474]	uncertain significance	22	27800252	27800252	Human	1	name
156102355	CV2313562	single nucleotide variant	NM_002430.3(MN1):c.106G>T (p.Ala36Ser)	Inborn genetic diseases [RCV002888711]	uncertain significance	22	27800438	27800438	Human	1	name
156250791	CV2359171	single nucleotide variant	NM_002430.3(MN1):c.155T>C (p.Met52Thr)	Inborn genetic diseases [RCV002987956]	uncertain significance	22	27800389	27800389	Human	1	name
401758724	CV2700724	single nucleotide variant	NM_002430.3(MN1):c.180C>G (p.Ile60Met)	Inborn genetic diseases [RCV003256564]	uncertain significance	22	27800364	27800364	Human	1	name
401726327	CV2736109	single nucleotide variant	NM_002430.3(MN1):c.1059G>A (p.Pro353=)	not provided [RCV003312555]	benign\|likely benign	22	27799485	27799485	Human		name
401912314	CV2822081	single nucleotide variant	NM_002430.3(MN1):c.2817C>T (p.Gly939=)	not provided [RCV003427181]	likely benign	22	27797727	27797727	Human		name
401912316	CV2822083	single nucleotide variant	NM_002430.3(MN1):c.2175T>G (p.Ala725=)	not provided [RCV003427183]	likely benign	22	27798369	27798369	Human		name
401912317	CV2822084	single nucleotide variant	NM_002430.3(MN1):c.1626A>G (p.Gln542=)	not provided [RCV003427184]	likely benign	22	27798918	27798918	Human		name
401912320	CV2822086	single nucleotide variant	NM_002430.3(MN1):c.1620A>G (p.Gln540=)	not provided [RCV003427186]	benign\|likely benign	22	27798924	27798924	Human		name
401912321	CV2822087	single nucleotide variant	NM_002430.3(MN1):c.1611G>A (p.Gln537=)	not provided [RCV003427187]	likely benign	22	27798933	27798933	Human		name
401912323	CV2822088	single nucleotide variant	NM_002430.3(MN1):c.1605G>A (p.Gln535=)	not provided [RCV003427188]	likely benign	22	27798939	27798939	Human		name
401912324	CV2822089	single nucleotide variant	NM_002430.3(MN1):c.1602G>A (p.Gln534=)	not provided [RCV003427189]	likely benign	22	27798942	27798942	Human		name
401912327	CV2822091	single nucleotide variant	NM_002430.3(MN1):c.1596G>A (p.Gln532=)	not provided [RCV003427191]	likely benign	22	27798948	27798948	Human		name
401912335	CV2822097	single nucleotide variant	NM_002430.3(MN1):c.242G>C (p.Gly81Ala)	not provided [RCV003427197]	likely benign	22	27800302	27800302	Human		name
405264205	CV3185158	single nucleotide variant	NM_002430.3(MN1):c.1632A>G (p.Gln544=)	not provided [RCV003885722]	likely benign	22	27798912	27798912	Human		name
405256772	CV3185888	single nucleotide variant	NM_002430.3(MN1):c.2256C>T (p.Gly752=)	MN1-related disorder [RCV003931365]\|not provided [RCV003884964]	likely benign	22	27798288	27798288	Human	1	name , trait , alternate_id
405292275	CV3192291	single nucleotide variant	NM_002430.3(MN1):c.284A>G (p.Gln95Arg)	MN1-related disorder [RCV003929575]	likely benign	22	27800260	27800260	Human		name , trait , alternate_id
405267150	CV3202139	single nucleotide variant	NM_002430.3(MN1):c.1563C>T (p.Ser521=)	MN1-related disorder [RCV003911612]	benign	22	27798981	27798981	Human		name , trait , alternate_id
405287456	CV3205695	single nucleotide variant	NM_002430.3(MN1):c.1944C>A (p.Gly648=)	MN1-related disorder [RCV003959815]	likely benign	22	27798600	27798600	Human		name , trait , alternate_id
405294472	CV3211407	single nucleotide variant	NM_002430.3(MN1):c.1782G>A (p.Pro594=)	MN1-related disorder [RCV003934370]	likely benign	22	27798762	27798762	Human		name , trait , alternate_id
405282713	CV3213004	single nucleotide variant	NM_002430.3(MN1):c.1983C>G (p.Pro661=)	MN1-related disorder [RCV003957106]\|not provided [RCV004721793]	likely benign	22	27798561	27798561	Human	1	name , trait , alternate_id
405294219	CV3214664	single nucleotide variant	NM_002430.3(MN1):c.2004G>A (p.Pro668=)	MN1-related disorder [RCV003934104]	likely benign	22	27798540	27798540	Human		name , trait , alternate_id
405267798	CV3219494	single nucleotide variant	NM_002430.3(MN1):c.193A>C (p.Met65Leu)	MN1-related disorder [RCV003969711]	likely benign	22	27800351	27800351	Human		name , trait , alternate_id
405703340	CV3224488	deletion	NM_002430.3(MN1):c.704del (p.Tyr235fs)	CEBALID syndrome [RCV003989876]	uncertain significance	22	27799840	27799840	Human	1	name , alternate_id
405787877	CV3339987	single nucleotide variant	NM_002430.3(MN1):c.284A>T (p.Gln95Leu)	Inborn genetic diseases [RCV004473223]	uncertain significance	22	27800260	27800260	Human	1	name
405754553	CV3346351	single nucleotide variant	NM_002430.3(MN1):c.136G>C (p.Gly46Arg)	Inborn genetic diseases [RCV004467642]	uncertain significance	22	27800408	27800408	Human	1	name
407495340	CV3453689	single nucleotide variant	NM_002430.3(MN1):c.130C>G (p.Pro44Ala)	Inborn genetic diseases [RCV004643204]	uncertain significance	22	27800414	27800414	Human	1	name
408380199	CV3511319	single nucleotide variant	NM_002430.3(MN1):c.1059G>T (p.Pro353=)	MN1-related disorder [RCV004753979]	likely benign	22	27799485	27799485	Human		name , trait , alternate_id
408388438	CV3520795	single nucleotide variant	NM_002430.3(MN1):c.136G>A (p.Gly46Ser)	not provided [RCV004761628]	uncertain significance	22	27800408	27800408	Human		name
596945135	CV3543742	single nucleotide variant	NM_002430.3(MN1):c.136G>T (p.Gly46Cys)	not provided [RCV004801864]	uncertain significance	22	27800408	27800408	Human		name
597700602	CV3554162	single nucleotide variant	NM_002430.3(MN1):c.203A>G (p.Tyr68Cys)	Inborn genetic diseases [RCV004956566]	uncertain significance	22	27800341	27800341	Human	1	name
597700637	CV3554171	single nucleotide variant	NM_002430.3(MN1):c.122C>A (p.Thr41Asn)	Inborn genetic diseases [RCV004956572]	uncertain significance	22	27800422	27800422	Human	1	name
598128886	CV3886686	single nucleotide variant	NM_002430.3(MN1):c.1578G>A (p.Gln526=)	not provided [RCV005244346]	likely benign	22	27798966	27798966	Human		name
598129910	CV3887334	single nucleotide variant	NM_002430.3(MN1):c.1638G>A (p.Gln546=)	not provided [RCV005245395]	likely benign	22	27798906	27798906	Human		name
598200704	CV3986138	single nucleotide variant	NM_002430.3(MN1):c.175C>T (p.Pro59Ser)	Inborn genetic diseases [RCV005375898]	uncertain significance	22	27800369	27800369	Human	1	name
617151602	CV4021767	single nucleotide variant	NM_002430.3(MN1):c.2769C>T (p.Thr923=)	not provided [RCV005426728]	likely benign	22	27797775	27797775	Human		name
14695583	CV623011	deletion	NM_002430.3(MN1):c.785del (p.Gly262fs)	Chordoma [RCV000786030]	likely pathogenic	22	27799759	27799759	Human	1	name
15203045	CV705859	single nucleotide variant	NM_002430.3(MN1):c.1785G>A (p.Val595=)	MN1-related disorder [RCV003978318]\|not provided [RCV000958186]	benign	22	27798759	27798759	Human	1	name , trait , alternate_id
15185861	CV705861	single nucleotide variant	NM_002430.3(MN1):c.1200G>A (p.Leu400=)	not provided [RCV000953109]	benign	22	27799344	27799344	Human		name
40816194	CV969195	single nucleotide variant	NM_002430.3(MN1):c.113C>A (p.Ala38Asp)	not specified [RCV001260327]	uncertain significance	22	27800431	27800431	Human		name
126912178	CV1038809	single nucleotide variant	NM_002430.3(MN1):c.439C>A (p.Pro147Thr)	not provided [RCV001356222]	uncertain significance	22	27800105	27800105	Human		name
150471611	CV1259150	single nucleotide variant	NM_002430.3(MN1):c.3435G>A (p.Pro1145=)	not provided [RCV001684395]	benign	22	27797109	27797109	Human		name
150551308	CV1292636	single nucleotide variant	NM_002430.3(MN1):c.757G>C (p.Glu253Gln)	not provided [RCV001754243]	uncertain significance	22	27799787	27799787	Human		name
153000104	CV1682865	single nucleotide variant	NM_002430.3(MN1):c.307G>A (p.Gly103Arg)	See cases [RCV002252875]	uncertain significance	22	27800237	27800237	Human		name
153348765	CV1692809	single nucleotide variant	NM_002430.3(MN1):c.620C>G (p.Pro207Arg)	not provided [RCV002274665]	uncertain significance	22	27799924	27799924	Human		name
155265446	CV1695583	single nucleotide variant	NM_002430.3(MN1):c.569G>A (p.Cys190Tyr)	not provided [RCV002280315]	uncertain significance	22	27799975	27799975	Human		name
155644622	CV1710309	single nucleotide variant	NM_002430.3(MN1):c.481G>A (p.Gly161Arg)	not provided [RCV002293605]	uncertain significance	22	27800063	27800063	Human		name
156261892	CV2314792	single nucleotide variant	NM_002430.3(MN1):c.304C>G (p.Pro102Ala)	Inborn genetic diseases [RCV002920554]	uncertain significance	22	27800240	27800240	Human	1	name
156189246	CV2395639	single nucleotide variant	NM_002430.3(MN1):c.359G>T (p.Gly120Val)	Inborn genetic diseases [RCV002789069]	uncertain significance	22	27800185	27800185	Human	1	name
329952649	CV2669999	single nucleotide variant	NM_002430.3(MN1):c.956G>A (p.Gly319Glu)	not provided [RCV003233212]	uncertain significance	22	27799588	27799588	Human		name
401724215	CV2672231	single nucleotide variant	NM_002430.3(MN1):c.308G>C (p.Gly103Ala)	not provided [RCV003239132]	uncertain significance	22	27800236	27800236	Human		name
401736621	CV2689389	single nucleotide variant	NM_002430.3(MN1):c.788G>A (p.Arg263His)	Inborn genetic diseases [RCV003291358]	uncertain significance	22	27799756	27799756	Human	1	name
401737437	CV2699817	single nucleotide variant	NM_002430.3(MN1):c.608T>C (p.Phe203Ser)	Inborn genetic diseases [RCV003291559]	uncertain significance	22	27799936	27799936	Human	1	name
401720985	CV2737384	single nucleotide variant	NM_002430.3(MN1):c.487G>T (p.Glu163Ter)	CEBALID syndrome [RCV003314323]	likely pathogenic	22	27800057	27800057	Human	1	name , alternate_id
401797727	CV2740969	deletion	NM_002430.3(MN1):c.2063del (p.Gly688fs)	not provided [RCV003322133]	likely pathogenic	22	27798481	27798481	Human		name
401895669	CV2775010	single nucleotide variant	NM_002430.3(MN1):c.968T>C (p.Met323Thr)	Inborn genetic diseases [RCV003373294]\|MN1-related disorder [RCV003420677]	uncertain significance	22	27799576	27799576	Human	2	name , trait , alternate_id
401891010	CV2778595	single nucleotide variant	NM_002430.3(MN1):c.820T>C (p.Ser274Pro)	Inborn genetic diseases [RCV003354715]	uncertain significance	22	27799724	27799724	Human	1	name
401931251	CV2800711	single nucleotide variant	NM_002430.3(MN1):c.773A>T (p.His258Leu)	MN1-related disorder [RCV003391281]	uncertain significance	22	27799771	27799771	Human		name , trait , alternate_id
401918740	CV2800935	single nucleotide variant	NM_002430.3(MN1):c.929A>G (p.His310Arg)	MN1-related disorder [RCV003402133]	uncertain significance	22	27799615	27799615	Human		name , trait , alternate_id
401912307	CV2822076	single nucleotide variant	NM_002430.3(MN1):c.3457C>T (p.Leu1153=)	not provided [RCV003427176]	likely benign	22	27797087	27797087	Human		name
401912308	CV2822077	single nucleotide variant	NM_002430.3(MN1):c.3357C>T (p.Gly1119=)	MN1-related disorder [RCV003954174]\|not provided [RCV003427177]	likely benign	22	27797187	27797187	Human	1	name , trait , alternate_id
401912309	CV2822078	single nucleotide variant	NM_002430.3(MN1):c.3303C>T (p.Pro1101=)	not provided [RCV003427178]	likely benign	22	27797241	27797241	Human		name
401912311	CV2822079	single nucleotide variant	NM_002430.3(MN1):c.3300G>T (p.Pro1100=)	not provided [RCV003427179]	likely benign	22	27797244	27797244	Human		name
401912312	CV2822080	single nucleotide variant	NM_002430.3(MN1):c.3084G>A (p.Leu1028=)	MN1-related disorder [RCV003919173]\|not provided [RCV003427180]	benign\|likely benign	22	27797460	27797460	Human	1	name , trait , alternate_id
401912329	CV2822093	single nucleotide variant	NM_002430.3(MN1):c.817G>T (p.Ala273Ser)	MN1-related disorder [RCV003919174]\|not provided [RCV003427193]	benign\|likely benign	22	27799727	27799727	Human	1	name , trait , alternate_id
401914417	CV2830688	single nucleotide variant	NM_002430.3(MN1):c.931G>A (p.Gly311Ser)	not provided [RCV003442426]	uncertain significance	22	27799613	27799613	Human		name
405292758	CV3192610	single nucleotide variant	NM_002430.3(MN1):c.3399G>A (p.Glu1133=)	MN1-related disorder [RCV003929858]	likely benign	22	27797145	27797145	Human		name , trait , alternate_id
405258864	CV3215129	single nucleotide variant	NM_002430.3(MN1):c.3849C>T (p.Val1283=)	MN1-related disorder [RCV003942184]	likely benign	22	27751029	27751029	Human		name , trait , alternate_id
405795533	CV3336510	single nucleotide variant	NM_002430.3(MN1):c.328C>T (p.His110Tyr)	Inborn genetic diseases [RCV004475563]	uncertain significance	22	27800216	27800216	Human	1	name
405796215	CV3336723	single nucleotide variant	NM_002430.3(MN1):c.347G>T (p.Gly116Val)	Inborn genetic diseases [RCV004475776]	uncertain significance	22	27800197	27800197	Human	1	name
405759275	CV3343772	single nucleotide variant	NM_002430.3(MN1):c.496G>T (p.Gly166Cys)	Inborn genetic diseases [RCV004468328]	likely benign	22	27800048	27800048	Human	1	name
405774742	CV3343873	single nucleotide variant	NM_002430.3(MN1):c.788G>T (p.Arg263Leu)	Inborn genetic diseases [RCV004470909]	uncertain significance	22	27799756	27799756	Human	1	name
405775045	CV3343924	single nucleotide variant	NM_002430.3(MN1):c.846G>C (p.Met282Ile)	Inborn genetic diseases [RCV004470960]	uncertain significance	22	27799698	27799698	Human	1	name
405775260	CV3343959	single nucleotide variant	NM_002430.3(MN1):c.868G>T (p.Ala290Ser)	Inborn genetic diseases [RCV004470995]	uncertain significance	22	27799676	27799676	Human	1	name
405775444	CV3343989	single nucleotide variant	NM_002430.3(MN1):c.873G>C (p.Gln291His)	Inborn genetic diseases [RCV004471025]	uncertain significance	22	27799671	27799671	Human	1	name
405756493	CV3346806	single nucleotide variant	NM_002430.3(MN1):c.358G>T (p.Gly120Cys)	Inborn genetic diseases [RCV004467906]	uncertain significance	22	27800186	27800186	Human	1	name
405757397	CV3346937	single nucleotide variant	NM_002430.3(MN1):c.370G>A (p.Gly124Arg)	Inborn genetic diseases [RCV004468037]	uncertain significance	22	27800174	27800174	Human	1	name
405758507	CV3347099	single nucleotide variant	NM_002430.3(MN1):c.388G>C (p.Gly130Arg)	Inborn genetic diseases [RCV004468199]	uncertain significance	22	27800156	27800156	Human	1	name
405871752	CV3398052	single nucleotide variant	NM_002430.3(MN1):c.3873C>T (p.Asp1291=)	not provided [RCV004575052]	likely benign	22	27751005	27751005	Human		name
407495348	CV3453693	single nucleotide variant	NM_002430.3(MN1):c.631G>T (p.Gly211Cys)	Inborn genetic diseases [RCV004643206]	uncertain significance	22	27799913	27799913	Human	1	name
408386766	CV3518532	single nucleotide variant	NM_002430.3(MN1):c.712G>A (p.Glu238Lys)	not provided [RCV004760850]	uncertain significance	22	27799832	27799832	Human		name
408390487	CV3519382	single nucleotide variant	NM_002430.3(MN1):c.760G>A (p.Gly254Arg)	not provided [RCV004762691]	uncertain significance	22	27799784	27799784	Human		name
596925769	CV3530572	single nucleotide variant	NM_002430.3(MN1):c.926A>T (p.Gln309Leu)	not provided [RCV004778157]	uncertain significance	22	27799618	27799618	Human		name
596942696	CV3544119	single nucleotide variant	NM_002430.3(MN1):c.3120C>T (p.Asn1040=)	not specified [RCV004800110]	likely benign	22	27797424	27797424	Human		name
596938600	CV3549652	single nucleotide variant	NM_002430.3(MN1):c.967A>G (p.Met323Val)	not provided [RCV004812692]	uncertain significance	22	27799577	27799577	Human		name
597631878	CV3552734	single nucleotide variant	NM_002430.3(MN1):c.560C>A (p.Pro187Gln)	not provided [RCV004823562]	uncertain significance	22	27799984	27799984	Human		name
597700608	CV3554163	single nucleotide variant	NM_002430.3(MN1):c.682G>A (p.Val228Ile)	Inborn genetic diseases [RCV004956567]	uncertain significance	22	27799862	27799862	Human	1	name
597683498	CV3554167	single nucleotide variant	NM_002430.3(MN1):c.598G>T (p.Ala200Ser)	Inborn genetic diseases [RCV004952276]	uncertain significance	22	27799946	27799946	Human	1	name
597683502	CV3554169	single nucleotide variant	NM_002430.3(MN1):c.922C>T (p.Gln308Ter)	Inborn genetic diseases [RCV004952277]	pathogenic	22	27799622	27799622	Human	1	name
597657935	CV3731733	single nucleotide variant	NM_002430.3(MN1):c.640T>A (p.Ser214Thr)	not provided [RCV005001914]	uncertain significance	22	27799904	27799904	Human		name
597719965	CV3733553	single nucleotide variant	NM_002430.3(MN1):c.604T>G (p.Ser202Ala)	not provided [RCV005052743]	uncertain significance	22	27799940	27799940	Human		name
598225369	CV3894241	single nucleotide variant	NM_002430.3(MN1):c.3786C>T (p.His1262=)	not provided [RCV005257484]	likely benign	22	27751092	27751092	Human		name
598200670	CV3986125	single nucleotide variant	NM_002430.3(MN1):c.889C>T (p.Pro297Ser)	Inborn genetic diseases [RCV005375891]	uncertain significance	22	27799655	27799655	Human	1	name
598200694	CV3986133	single nucleotide variant	NM_002430.3(MN1):c.388G>A (p.Gly130Arg)	Inborn genetic diseases [RCV005375896]	uncertain significance	22	27800156	27800156	Human	1	name
598167608	CV3986135	single nucleotide variant	NM_002430.3(MN1):c.550C>G (p.His184Asp)	Inborn genetic diseases [RCV005369553]	uncertain significance	22	27799994	27799994	Human	1	name
598167614	CV3986137	single nucleotide variant	NM_002430.3(MN1):c.991G>A (p.Val331Met)	Inborn genetic diseases [RCV005369555]	uncertain significance	22	27799553	27799553	Human	1	name
40816086	CV967139	duplication	NM_002430.3(MN1):c.1091dup (p.Pro365fs)	not provided [RCV001258029]	likely pathogenic	22	27799452	27799453	Human		name
126726710	CV1018808	single nucleotide variant	NM_002430.3(MN1):c.1915C>A (p.Pro639Thr)	CEBALID syndrome [RCV001332130]	uncertain significance	22	27798629	27798629	Human	1	name , alternate_id
150418133	CV1181970	single nucleotide variant	NM_002430.3(MN1):c.1146G>T (p.Gln382His)	not provided [RCV001550468]	likely benign	22	27799398	27799398	Human	4	name
150418133	CV1181970	single nucleotide variant	NM_002430.3(MN1):c.1146G>T (p.Gln382His)	not provided [RCV001550468]	likely benign	22	27799398	27799399	Human	4	name
150529198	CV1288751	single nucleotide variant	NM_002430.3(MN1):c.2590G>A (p.Glu864Lys)	not provided [RCV001727219]	uncertain significance	22	27797954	27797954	Human		name
150531387	CV1301884	deletion	NM_002430.3(MN1):c.3768del (p.Asn1257fs)	not provided [RCV001757101]	uncertain significance	22	27796776	27796776	Human		name
150550128	CV1302314	deletion	NM_002430.3(MN1):c.3374del (p.Gly1125fs)	not provided [RCV001752766]	uncertain significance	22	27797170	27797170	Human		name
152102449	CV1667261	single nucleotide variant	NM_002430.3(MN1):c.2006C>G (p.Pro669Arg)	Familial meningioma [RCV005397336]\|not provided [RCV002214247]	uncertain significance	22	27798538	27798538	Human	1	name , alternate_id
153002397	CV1685516	single nucleotide variant	NM_002430.3(MN1):c.2591A>G (p.Glu864Gly)	not provided [RCV002259503]	uncertain significance	22	27797953	27797953	Human		name
153301210	CV1689058	single nucleotide variant	NM_002430.3(MN1):c.2612C>T (p.Ala871Val)	CEBALID syndrome [RCV002266786]	uncertain significance	22	27797932	27797932	Human	1	name , alternate_id
153346304	CV1691635	single nucleotide variant	NM_002430.3(MN1):c.2783C>T (p.Ser928Leu)	CEBALID syndrome [RCV002273118]	uncertain significance	22	27797761	27797761	Human	1	name , alternate_id
155641709	CV1707108	single nucleotide variant	NM_002430.3(MN1):c.1921G>T (p.Asp641Tyr)	not provided [RCV002288038]	uncertain significance	22	27798623	27798623	Human		name
155641921	CV1707180	single nucleotide variant	NM_002430.3(MN1):c.2474T>A (p.Leu825Gln)	not provided [RCV002288110]	uncertain significance	22	27798070	27798070	Human		name
155643014	CV1707646	single nucleotide variant	NM_002430.3(MN1):c.2464C>T (p.Gln822Ter)	CEBALID syndrome [RCV002289107]	pathogenic	22	27798080	27798080	Human	1	name , alternate_id
155944996	CV1935564	single nucleotide variant	NM_002430.3(MN1):c.1661C>T (p.Ala554Val)	not provided [RCV002511312]	uncertain significance	22	27798883	27798883	Human		name
156140472	CV2212183	single nucleotide variant	NM_002430.3(MN1):c.2446A>G (p.Lys816Glu)	Inborn genetic diseases [RCV002697018]	uncertain significance	22	27798098	27798098	Human	1	name
156401038	CV2213759	single nucleotide variant	NM_002430.3(MN1):c.2345G>T (p.Gly782Val)	Inborn genetic diseases [RCV002656785]\|MN1-related disorder [RCV004753647]	uncertain significance	22	27798199	27798199	Human	2	name , trait , alternate_id
156039880	CV2219420	single nucleotide variant	NM_002430.3(MN1):c.2335G>A (p.Gly779Ser)	Inborn genetic diseases [RCV002692185]	uncertain significance	22	27798209	27798209	Human	1	name
156127964	CV2223865	single nucleotide variant	NM_002430.3(MN1):c.1117T>C (p.Ser373Pro)	Inborn genetic diseases [RCV002708274]	uncertain significance	22	27799427	27799427	Human	1	name
156288429	CV2229768	single nucleotide variant	NM_002430.3(MN1):c.1855G>A (p.Glu619Lys)	Inborn genetic diseases [RCV002747586]	uncertain significance	22	27798689	27798689	Human	1	name
156233874	CV2245297	single nucleotide variant	NM_002430.3(MN1):c.1570C>G (p.Gln524Glu)	Inborn genetic diseases [RCV002767831]	uncertain significance	22	27798974	27798974	Human	1	name
156199011	CV2255954	deletion	NM_002430.3(MN1):c.3709del (p.Asp1237fs)	Inborn genetic diseases [RCV002803334]	uncertain significance	22	27796835	27796835	Human	1	name
156170181	CV2273487	single nucleotide variant	NM_002430.3(MN1):c.1082C>A (p.Pro361Gln)	Inborn genetic diseases [RCV002827909]	likely benign	22	27799462	27799462	Human	1	name
156191592	CV2289360	single nucleotide variant	NM_002430.3(MN1):c.1813C>T (p.Arg605Cys)	Inborn genetic diseases [RCV002874274]	uncertain significance	22	27798731	27798731	Human	1	name
156243178	CV2306728	single nucleotide variant	NM_002430.3(MN1):c.1231A>C (p.Ile411Leu)	Inborn genetic diseases [RCV002919453]	uncertain significance	22	27799313	27799313	Human	1	name
156385576	CV2364511	single nucleotide variant	NM_002430.3(MN1):c.1837G>A (p.Gly613Arg)	Inborn genetic diseases [RCV002679678]	uncertain significance	22	27798707	27798707	Human	1	name
155917112	CV2366831	single nucleotide variant	NM_002430.3(MN1):c.1346C>G (p.Pro449Arg)	Inborn genetic diseases [RCV003012752]\|MN1-related disorder [RCV003946401]	likely benign	22	27799198	27799198	Human	2	name , trait , alternate_id
156388532	CV2380500	single nucleotide variant	NM_002430.3(MN1):c.1450A>G (p.Asn484Asp)	Inborn genetic diseases [RCV002680341]	uncertain significance	22	27799094	27799094	Human	1	name
156209971	CV2382701	single nucleotide variant	NM_002430.3(MN1):c.2054G>A (p.Arg685Lys)	Inborn genetic diseases [RCV002744006]	likely benign	22	27798490	27798490	Human	1	name
243054340	CV2410333	single nucleotide variant	NM_002430.3(MN1):c.2058G>T (p.Met686Ile)	not provided [RCV003131596]	uncertain significance	22	27798486	27798486	Human		name
243054342	CV2410334	single nucleotide variant	NM_002430.3(MN1):c.2306C>T (p.Ala769Val)	not provided [RCV003131597]	uncertain significance	22	27798238	27798238	Human		name
243056344	CV2410336	single nucleotide variant	NM_002430.3(MN1):c.1837G>C (p.Gly613Arg)	not provided [RCV003132669]	uncertain significance	22	27798707	27798707	Human		name
243052641	CV2416193	single nucleotide variant	NM_002430.3(MN1):c.1138C>T (p.Arg380Trp)	not provided [RCV003149254]	uncertain significance	22	27799406	27799406	Human		name
243049347	CV2416786	deletion	NM_002430.3(MN1):c.3822del (p.Gly1275fs)	CEBALID syndrome [RCV003150914]	likely pathogenic	22	27751056	27751056	Human	1	name , alternate_id
243049870	CV2417095	deletion	NM_002430.3(MN1):c.3794del (p.Pro1265fs)	CEBALID syndrome [RCV003151965]	pathogenic	22	27751084	27751084	Human	1	name , alternate_id
329350211	CV2421610	single nucleotide variant	NM_002430.3(MN1):c.2263T>A (p.Ser755Thr)	not provided [RCV003159312]	uncertain significance	22	27798281	27798281	Human		name
329382950	CV2424606	single nucleotide variant	NM_002430.3(MN1):c.1777G>A (p.Gly593Ser)	Inborn genetic diseases [RCV003188612]	uncertain significance	22	27798767	27798767	Human	1	name
329400257	CV2437513	single nucleotide variant	NM_002430.3(MN1):c.2048C>T (p.Pro683Leu)	Inborn genetic diseases [RCV003197244]\|not provided [RCV003427705]	uncertain significance	22	27798496	27798496	Human	1	name
329352104	CV2452030	single nucleotide variant	NM_002430.3(MN1):c.2737G>A (p.Gly913Arg)	Inborn genetic diseases [RCV003200271]	uncertain significance	22	27797807	27797807	Human	1	name
329396878	CV2459090	single nucleotide variant	NM_002430.3(MN1):c.2528A>G (p.Asn843Ser)	Inborn genetic diseases [RCV003195186]	uncertain significance	22	27798016	27798016	Human	1	name
329350411	CV2477345	single nucleotide variant	NM_002430.3(MN1):c.2743G>C (p.Gly915Arg)	MN1-related disorder [RCV003395726]\|not provided [RCV003221670]	uncertain significance	22	27797801	27797801	Human	1	name , trait , alternate_id
329847392	CV2524227	single nucleotide variant	NM_002430.3(MN1):c.2111G>T (p.Gly704Val)	not provided [RCV003227119]	uncertain significance	22	27798433	27798433	Human		name
329846422	CV2534032	single nucleotide variant	NM_002430.3(MN1):c.2521G>T (p.Ala841Ser)	not provided [RCV003228238]	uncertain significance	22	27798023	27798023	Human		name
329847105	CV2534277	single nucleotide variant	NM_002430.3(MN1):c.1444C>G (p.Leu482Val)	not provided [RCV003228486]	uncertain significance	22	27799100	27799100	Human		name
329847611	CV2543905	single nucleotide variant	NM_002430.3(MN1):c.2803G>A (p.Val935Ile)	See cases [RCV003228867]	uncertain significance	22	27797741	27797741	Human		name
401725083	CV2672361	single nucleotide variant	NM_002430.3(MN1):c.2108G>T (p.Gly703Val)	not provided [RCV003239262]	uncertain significance	22	27798436	27798436	Human		name
401739340	CV2673269	single nucleotide variant	NM_002430.3(MN1):c.1823G>T (p.Gly608Val)	Inborn genetic diseases [RCV003250931]	uncertain significance	22	27798721	27798721	Human	1	name
401718377	CV2708247	single nucleotide variant	NM_002430.3(MN1):c.1557C>G (p.His519Gln)	Inborn genetic diseases [RCV003266477]	uncertain significance	22	27798987	27798987	Human	1	name
401759115	CV2712419	single nucleotide variant	NM_002430.3(MN1):c.1616A>C (p.Gln539Pro)	Inborn genetic diseases [RCV003299093]	likely benign	22	27798928	27798928	Human	1	name
401763388	CV2720302	single nucleotide variant	NM_002430.3(MN1):c.2752C>A (p.Leu918Ile)	Inborn genetic diseases [RCV003300546]	uncertain significance	22	27797792	27797792	Human	1	name
401781825	CV2722292	single nucleotide variant	NM_002430.3(MN1):c.2150C>T (p.Ala717Val)	Inborn genetic diseases [RCV003308720]	uncertain significance	22	27798394	27798394	Human	1	name
401720857	CV2737334	single nucleotide variant	NM_002430.3(MN1):c.1363A>T (p.Lys455Ter)	CEBALID syndrome [RCV003314273]	likely pathogenic	22	27799181	27799181	Human	1	name , alternate_id
401742086	CV2738894	single nucleotide variant	NM_002430.3(MN1):c.2983C>A (p.Arg995Ser)	not provided [RCV003318288]	uncertain significance	22	27797561	27797561	Human		name
401875681	CV2750001	single nucleotide variant	NM_002430.3(MN1):c.2146G>A (p.Gly716Arg)	CEBALID syndrome [RCV003333415]	uncertain significance	22	27798398	27798398	Human	1	name , alternate_id
401879194	CV2787924	single nucleotide variant	NM_002430.3(MN1):c.1185C>G (p.Asp395Glu)	Inborn genetic diseases [RCV003384579]	uncertain significance	22	27799359	27799359	Human	1	name
401896640	CV2791856	single nucleotide variant	NM_002430.3(MN1):c.2369A>G (p.Asp790Gly)	Inborn genetic diseases [RCV003374276]	uncertain significance	22	27798175	27798175	Human	1	name
401931781	CV2803783	single nucleotide variant	NM_002430.3(MN1):c.2276G>A (p.Ser759Asn)	Inborn genetic diseases [RCV004961281]\|MN1-related disorder [RCV003408389]	uncertain significance	22	27798268	27798268	Human	2	name , trait , alternate_id
401932654	CV2804321	single nucleotide variant	NM_002430.3(MN1):c.1853T>G (p.Phe618Cys)	MN1-related disorder [RCV003408741]	uncertain significance	22	27798691	27798691	Human		name , trait , alternate_id
401912315	CV2822082	single nucleotide variant	NM_002430.3(MN1):c.2570A>G (p.Lys857Arg)	not provided [RCV003427182]	uncertain significance	22	27797974	27797974	Human		name
401912328	CV2822092	single nucleotide variant	NM_002430.3(MN1):c.1424G>A (p.Gly475Asp)	not provided [RCV003427192]	uncertain significance	22	27799120	27799120	Human		name
401917653	CV2829947	single nucleotide variant	NM_002430.3(MN1):c.2668C>G (p.Pro890Ala)	not provided [RCV003443991]	uncertain significance	22	27797876	27797876	Human		name
401912777	CV2829994	single nucleotide variant	NM_002430.3(MN1):c.2813G>A (p.Gly938Asp)	not provided [RCV003441208]	uncertain significance	22	27797731	27797731	Human		name
401913283	CV2830301	single nucleotide variant	NM_002430.3(MN1):c.2255G>T (p.Gly752Val)	not provided [RCV003441516]	uncertain significance	22	27798289	27798289	Human		name
401916374	CV2831059	single nucleotide variant	NM_002430.3(MN1):c.2285G>A (p.Gly762Asp)	not provided [RCV003443328]	uncertain significance	22	27798259	27798259	Human		name
401916547	CV2831163	single nucleotide variant	NM_002430.3(MN1):c.1768G>C (p.Val590Leu)	not provided [RCV003443432]	uncertain significance	22	27798776	27798776	Human		name
405262646	CV3185002	single nucleotide variant	NM_002430.3(MN1):c.1783G>A (p.Val595Met)	not provided [RCV003885566]	likely benign	22	27798761	27798761	Human		name
405272803	CV3210148	single nucleotide variant	NM_002430.3(MN1):c.2015C>T (p.Ser672Leu)	MN1-related disorder [RCV003914394]\|not provided [RCV004810594]	likely benign	22	27798529	27798529	Human	1	name , trait , alternate_id
405266050	CV3215816	single nucleotide variant	NM_002430.3(MN1):c.2003C>T (p.Pro668Leu)	Inborn genetic diseases [RCV004953659]\|MN1-related disorder [RCV003946964]	likely benign	22	27798541	27798541	Human	2	name , trait , alternate_id
405753636	CV3336257	single nucleotide variant	NM_002430.3(MN1):c.1082C>T (p.Pro361Leu)	Inborn genetic diseases [RCV004467484]	uncertain significance	22	27799462	27799462	Human	1	name
405787414	CV3339896	single nucleotide variant	NM_002430.3(MN1):c.2540C>A (p.Thr847Asn)	Inborn genetic diseases [RCV004473132]	uncertain significance	22	27798004	27798004	Human	1	name
405787510	CV3339915	single nucleotide variant	NM_002430.3(MN1):c.2725C>T (p.Pro909Ser)	Inborn genetic diseases [RCV004473151]	uncertain significance	22	27797819	27797819	Human	1	name
405788066	CV3340027	single nucleotide variant	NM_002430.3(MN1):c.2882A>G (p.Lys961Arg)	Inborn genetic diseases [RCV004473263]	uncertain significance	22	27797662	27797662	Human	1	name
405773744	CV3343515	single nucleotide variant	NM_002430.3(MN1):c.2053A>G (p.Arg685Gly)	Inborn genetic diseases [RCV004470742]	uncertain significance	22	27798491	27798491	Human	1	name
405774109	CV3343577	single nucleotide variant	NM_002430.3(MN1):c.2116C>A (p.Leu706Met)	Familial meningioma [RCV005392801]\|Inborn genetic diseases [RCV004470804]	uncertain significance	22	27798428	27798428	Human	2	name , alternate_id
405786489	CV3343652	single nucleotide variant	NM_002430.3(MN1):c.2278G>C (p.Gly760Arg)	Inborn genetic diseases [RCV004472946]	uncertain significance	22	27798266	27798266	Human	1	name
405754357	CV3346322	single nucleotide variant	NM_002430.3(MN1):c.1357G>A (p.Val453Met)	Inborn genetic diseases [RCV004467613]	likely benign	22	27799187	27799187	Human	1	name
405755013	CV3346394	single nucleotide variant	NM_002430.3(MN1):c.1423G>C (p.Gly475Arg)	Inborn genetic diseases [RCV004467685]	uncertain significance	22	27799121	27799121	Human	1	name
405772286	CV3346727	single nucleotide variant	NM_002430.3(MN1):c.1627C>T (p.Gln543Ter)	Inborn genetic diseases [RCV004470498]	pathogenic	22	27798917	27798917	Human	1	name
407427064	CV3409273	single nucleotide variant	NM_002430.3(MN1):c.2287G>A (p.Val763Met)	CEBALID syndrome [RCV004585205]	uncertain significance	22	27798257	27798257	Human	1	name , alternate_id
407425254	CV3411186	single nucleotide variant	NM_002430.3(MN1):c.2239C>G (p.Pro747Ala)	not provided [RCV004588877]	uncertain significance	22	27798305	27798305	Human		name
407458160	CV3416298	single nucleotide variant	NM_002430.3(MN1):c.2876T>C (p.Phe959Ser)	not provided [RCV004599176]	uncertain significance	22	27797668	27797668	Human		name
407495334	CV3453687	single nucleotide variant	NM_002430.3(MN1):c.1900G>C (p.Gly634Arg)	Inborn genetic diseases [RCV004643202]	uncertain significance	22	27798644	27798644	Human	1	name
407495338	CV3453688	single nucleotide variant	NM_002430.3(MN1):c.1034C>G (p.Pro345Arg)	Inborn genetic diseases [RCV004643203]	uncertain significance	22	27799510	27799510	Human	1	name
407495345	CV3453691	single nucleotide variant	NM_002430.3(MN1):c.2867G>T (p.Gly956Val)	Inborn genetic diseases [RCV004643205]	uncertain significance	22	27797677	27797677	Human	1	name
407495354	CV3453695	single nucleotide variant	NM_002430.3(MN1):c.2838A>T (p.Arg946Ser)	Inborn genetic diseases [RCV004643208]	uncertain significance	22	27797706	27797706	Human	1	name
407504720	CV3495954	single nucleotide variant	NM_002430.3(MN1):c.2440A>T (p.Ser814Cys)	not provided [RCV004697794]	uncertain significance	22	27798104	27798104	Human		name
408381481	CV3501937	single nucleotide variant	NM_002430.3(MN1):c.2447A>G (p.Lys816Arg)	not provided [RCV004729465]	uncertain significance	22	27798097	27798097	Human		name
408368986	CV3502714	single nucleotide variant	NM_002430.3(MN1):c.2093C>T (p.Pro698Leu)	not provided [RCV004723835]	uncertain significance	22	27798451	27798451	Human		name
408383881	CV3505985	single nucleotide variant	NM_002430.3(MN1):c.1079A>C (p.Gln360Pro)	MN1-related disorder [RCV004731361]	uncertain significance	22	27799465	27799465	Human		name , trait , alternate_id
408379129	CV3515448	single nucleotide variant	NM_002430.3(MN1):c.2566G>A (p.Gly856Ser)	MN1-related disorder [RCV004752555]	uncertain significance	22	27797978	27797978	Human		name , trait , alternate_id
408389814	CV3519058	single nucleotide variant	NM_002430.3(MN1):c.1348T>A (p.Tyr450Asn)	not provided [RCV004762367]	uncertain significance	22	27799196	27799196	Human		name
408390271	CV3519286	single nucleotide variant	NM_002430.3(MN1):c.2364G>T (p.Gln788His)	not provided [RCV004762595]	uncertain significance	22	27798180	27798180	Human		name
408386295	CV3522448	single nucleotide variant	NM_002430.3(MN1):c.2044G>A (p.Glu682Lys)	not provided [RCV004767808]	uncertain significance	22	27798500	27798500	Human		name
408389460	CV3523062	single nucleotide variant	NM_002430.3(MN1):c.2662C>T (p.Pro888Ser)	not provided [RCV004769443]	uncertain significance	22	27797882	27797882	Human		name
408386978	CV3524326	single nucleotide variant	NM_002430.3(MN1):c.2539A>G (p.Thr847Ala)	not provided [RCV004768200]	uncertain significance	22	27798005	27798005	Human		name
408389901	CV3524818	single nucleotide variant	NM_002430.3(MN1):c.2218C>G (p.Leu740Val)	not provided [RCV004769713]	uncertain significance	22	27798326	27798326	Human		name
408393123	CV3525468	single nucleotide variant	NM_002430.3(MN1):c.2338G>T (p.Gly780Cys)	not provided [RCV004771354]	uncertain significance	22	27798206	27798206	Human		name
408382577	CV3526748	single nucleotide variant	NM_002430.3(MN1):c.2560C>T (p.Pro854Ser)	not provided [RCV004772061]	uncertain significance	22	27797984	27797984	Human		name
408385933	CV3528750	single nucleotide variant	NM_002430.3(MN1):c.2347G>A (p.Gly783Ser)	not provided [RCV004772583]	uncertain significance	22	27798197	27798197	Human		name
596921569	CV3535191	single nucleotide variant	NM_002430.3(MN1):c.2696G>C (p.Ser899Thr)	not provided [RCV004784750]	uncertain significance	22	27797848	27797848	Human		name
596922653	CV3537330	single nucleotide variant	NM_002430.3(MN1):c.2735A>G (p.Gln912Arg)	not provided [RCV004787300]	uncertain significance	22	27797809	27797809	Human		name
596922987	CV3537499	single nucleotide variant	NM_002430.3(MN1):c.2857G>C (p.Val953Leu)	not provided [RCV004787469]	uncertain significance	22	27797687	27797687	Human		name
596947150	CV3548699	single nucleotide variant	NM_002430.3(MN1):c.2935C>A (p.Gln979Lys)	not provided [RCV004811023]	uncertain significance	22	27797609	27797609	Human		name
596938647	CV3549699	single nucleotide variant	NM_002430.3(MN1):c.1259A>C (p.His420Pro)	not provided [RCV004812739]	uncertain significance	22	27799285	27799285	Human		name
596940003	CV3550752	single nucleotide variant	NM_002430.3(MN1):c.2833C>T (p.Arg945Cys)	not provided [RCV004814652]	uncertain significance	22	27797711	27797711	Human		name
597683466	CV3554155	single nucleotide variant	NM_002430.3(MN1):c.1645C>A (p.Gln549Lys)	Inborn genetic diseases [RCV004952271]	uncertain significance	22	27798899	27798899	Human	1	name
597700589	CV3554157	single nucleotide variant	NM_002430.3(MN1):c.1787G>C (p.Gly596Ala)	Inborn genetic diseases [RCV004956564]	uncertain significance	22	27798757	27798757	Human	1	name
597683472	CV3554158	single nucleotide variant	NM_002430.3(MN1):c.1853T>A (p.Phe618Tyr)	Inborn genetic diseases [RCV004952272]	uncertain significance	22	27798691	27798691	Human	1	name
597683481	CV3554159	single nucleotide variant	NM_002430.3(MN1):c.2296C>T (p.Pro766Ser)	Inborn genetic diseases [RCV004952273]	uncertain significance	22	27798248	27798248	Human	1	name
597700615	CV3554164	single nucleotide variant	NM_002430.3(MN1):c.1510G>A (p.Asp504Asn)	Inborn genetic diseases [RCV004956568]	uncertain significance	22	27799034	27799034	Human	1	name
597683490	CV3554165	single nucleotide variant	NM_002430.3(MN1):c.1042C>T (p.Pro348Ser)	Inborn genetic diseases [RCV004952275]	uncertain significance	22	27799502	27799502	Human	1	name
597700627	CV3554168	single nucleotide variant	NM_002430.3(MN1):c.1099C>T (p.Leu367Phe)	Inborn genetic diseases [RCV004956570]	uncertain significance	22	27799445	27799445	Human	1	name
597700632	CV3554170	single nucleotide variant	NM_002430.3(MN1):c.2058G>A (p.Met686Ile)	Inborn genetic diseases [RCV004956571]	uncertain significance	22	27798486	27798486	Human	1	name
597683520	CV3554173	single nucleotide variant	NM_002430.3(MN1):c.2801C>T (p.Pro934Leu)	Inborn genetic diseases [RCV004952279]	uncertain significance	22	27797743	27797743	Human	1	name
597683527	CV3554174	single nucleotide variant	NM_002430.3(MN1):c.2534A>G (p.Asn845Ser)	Inborn genetic diseases [RCV004952280]	uncertain significance	22	27798010	27798010	Human	1	name
597683536	CV3554175	single nucleotide variant	NM_002430.3(MN1):c.2935C>G (p.Gln979Glu)	Inborn genetic diseases [RCV004952281]	uncertain significance	22	27797609	27797609	Human	1	name
597700645	CV3554176	single nucleotide variant	NM_002430.3(MN1):c.2498A>G (p.Gln833Arg)	Inborn genetic diseases [RCV004956573]	uncertain significance	22	27798046	27798046	Human	1	name
597654891	CV3731434	single nucleotide variant	NM_002430.3(MN1):c.1352T>A (p.Met451Lys)	not provided [RCV005001615]	uncertain significance	22	27799192	27799192	Human		name
597657497	CV3731684	single nucleotide variant	NM_002430.3(MN1):c.1007C>G (p.Pro336Arg)	not provided [RCV005001865]	uncertain significance	22	27799537	27799537	Human		name
597834038	CV3735162	single nucleotide variant	NM_002430.3(MN1):c.1906C>T (p.His636Tyr)	not provided [RCV005054895]	uncertain significance	22	27798638	27798638	Human		name
598126983	CV3882403	single nucleotide variant	NM_002430.3(MN1):c.1249C>T (p.Arg417Trp)	not provided [RCV005233954]	uncertain significance	22	27799295	27799295	Human		name
598174627	CV3890909	single nucleotide variant	NM_002430.3(MN1):c.2771T>C (p.Leu924Pro)	not provided [RCV005251762]	uncertain significance	22	27797773	27797773	Human		name
598198103	CV3892494	single nucleotide variant	NM_002430.3(MN1):c.1870C>G (p.His624Asp)	not provided [RCV005254327]	uncertain significance	22	27798674	27798674	Human		name
598227025	CV3894451	single nucleotide variant	NM_002430.3(MN1):c.2584C>G (p.Gln862Glu)	not provided [RCV005257694]	uncertain significance	22	27797960	27797960	Human		name
598222297	CV3894555	single nucleotide variant	NM_002430.3(MN1):c.1162A>G (p.Thr388Ala)	Inborn genetic diseases [RCV005379870]\|not provided [RCV005257799]	uncertain significance	22	27799382	27799382	Human	1	name
598160217	CV3897237	single nucleotide variant	NM_002430.3(MN1):c.1256T>C (p.Met419Thr)	not provided [RCV005368211]	uncertain significance	22	27799288	27799288	Human		name
598167590	CV3986124	single nucleotide variant	NM_002430.3(MN1):c.1559A>G (p.Gln520Arg)	Inborn genetic diseases [RCV005369549]	uncertain significance	22	27798985	27798985	Human	1	name
598200675	CV3986126	single nucleotide variant	NM_002430.3(MN1):c.2989G>C (p.Ala997Pro)	Inborn genetic diseases [RCV005375892]	uncertain significance	22	27797555	27797555	Human	1	name
598167596	CV3986127	single nucleotide variant	NM_002430.3(MN1):c.2201A>C (p.Asp734Ala)	Inborn genetic diseases [RCV005369550]	uncertain significance	22	27798343	27798343	Human	1	name
598200680	CV3986128	single nucleotide variant	NM_002430.3(MN1):c.2210C>A (p.Thr737Lys)	Inborn genetic diseases [RCV005375893]	uncertain significance	22	27798334	27798334	Human	1	name
598200683	CV3986129	single nucleotide variant	NM_002430.3(MN1):c.2660C>T (p.Ala887Val)	Inborn genetic diseases [RCV005375894]	likely benign	22	27797884	27797884	Human	1	name
598167600	CV3986131	single nucleotide variant	NM_002430.3(MN1):c.2687C>G (p.Thr896Ser)	Inborn genetic diseases [RCV005369551]	uncertain significance	22	27797857	27797857	Human	1	name
598167604	CV3986132	single nucleotide variant	NM_002430.3(MN1):c.1781C>T (p.Pro594Leu)	Inborn genetic diseases [RCV005369552]	uncertain significance	22	27798763	27798763	Human	1	name
598167612	CV3986136	single nucleotide variant	NM_002430.3(MN1):c.1261C>T (p.Pro421Ser)	Inborn genetic diseases [RCV005369554]	uncertain significance	22	27799283	27799283	Human	1	name
598200709	CV3986139	single nucleotide variant	NM_002430.3(MN1):c.1153G>C (p.Glu385Gln)	Inborn genetic diseases [RCV005375899]	uncertain significance	22	27799391	27799391	Human	1	name
598167619	CV3986140	single nucleotide variant	NM_002430.3(MN1):c.2180A>G (p.Glu727Gly)	Inborn genetic diseases [RCV005369556]	uncertain significance	22	27798364	27798364	Human	1	name
598200713	CV3986141	single nucleotide variant	NM_002430.3(MN1):c.1187G>A (p.Gly396Glu)	Inborn genetic diseases [RCV005375900]	uncertain significance	22	27799357	27799357	Human	1	name
616935366	CV4009488	single nucleotide variant	NM_002430.3(MN1):c.2489C>A (p.Thr830Asn)	not provided [RCV005402660]	uncertain significance	22	27798055	27798055	Human		name
616935370	CV4009490	single nucleotide variant	NM_002430.3(MN1):c.1043C>G (p.Pro348Arg)	not provided [RCV005402662]	uncertain significance	22	27799501	27799501	Human		name
616938102	CV4013378	single nucleotide variant	NM_002430.3(MN1):c.2468G>A (p.Ser823Asn)	not provided [RCV005410845]	uncertain significance	22	27798076	27798076	Human		name
617150683	CV4018848	single nucleotide variant	NM_002430.3(MN1):c.1248C>G (p.Asn416Lys)	not provided [RCV005423256]	uncertain significance	22	27799296	27799296	Human		name
25317229	CV805119	deletion	NM_002430.3(MN1):c.3839del (p.Cys1280fs)	Atrial septal defect [RCV001007913]\|MN1 C-terminal truncation (MCTT) syndrome [RCV001258022]	likely pathogenic\|uncertain significance	22	27751039	27751039	Human	4	name , trait
39457017	CV966339	single nucleotide variant	NM_002430.3(MN1):c.1415C>A (p.Ser472Ter)	CEBALID syndrome [RCV001256177]\|not provided [RCV001257919]	pathogenic\|likely pathogenic	22	27799129	27799129	Human	1	name , alternate_id
40889637	CV972697	single nucleotide variant	NM_002430.3(MN1):c.2986G>C (p.Gly996Arg)	Neurodevelopmental abnormality [RCV001264707]	likely benign	22	27797558	27797558	Human	2	name
40886442	CV972733	deletion	NM_002430.3(MN1):c.3900del (p.Trp1301fs)	CEBALID syndrome [RCV001264754]	pathogenic	22	27750978	27750978	Human	1	name , alternate_id
150440002	CV1015147	single nucleotide variant	NM_002430.3(MN1):c.3555C>A (p.Cys1185Ter)	CEBALID syndrome [RCV001645004]	pathogenic	22	27796989	27796989	Human	1	name , alternate_id
150529197	CV1288750	single nucleotide variant	NM_002430.3(MN1):c.3371C>T (p.Pro1124Leu)	Inborn genetic diseases [RCV002543889]\|not provided [RCV001727218]	uncertain significance	22	27797173	27797173	Human	1	name
150549730	CV1299623	single nucleotide variant	NM_002430.3(MN1):c.3104A>T (p.Asp1035Val)	not provided [RCV001752549]	uncertain significance	22	27797440	27797440	Human		name
151348487	CV1324053	single nucleotide variant	NM_002430.3(MN1):c.3680G>A (p.Trp1227Ter)	CEBALID syndrome [RCV001807966]	likely pathogenic	22	27796864	27796864	Human	1	name , alternate_id
152102445	CV1667260	single nucleotide variant	NM_002430.3(MN1):c.3238G>C (p.Gly1080Arg)	Inborn genetic diseases [RCV003089125]\|not provided [RCV002214246]	likely benign\|uncertain significance	22	27797306	27797306	Human	1	name
153346427	CV1691708	single nucleotide variant	NM_002430.3(MN1):c.3953C>A (p.Ala1318Asp)	CEBALID syndrome [RCV002273191]	likely pathogenic	22	27750925	27750925	Human	1	name , alternate_id
153348589	CV1692627	single nucleotide variant	NM_002430.3(MN1):c.3744G>A (p.Trp1248Ter)	CEBALID syndrome [RCV002274482]	pathogenic\|likely pathogenic	22	27796800	27796800	Human	1	name , alternate_id
155803819	CV1858385	single nucleotide variant	NM_002430.3(MN1):c.3674C>T (p.Ala1225Val)	not provided [RCV002462695]	uncertain significance	22	27796870	27796870	Human		name
155795655	CV1861428	single nucleotide variant	NM_002430.3(MN1):c.3292G>A (p.Ala1098Thr)	not provided [RCV002469710]	uncertain significance	22	27797252	27797252	Human		name
155798579	CV1862073	single nucleotide variant	NM_002430.3(MN1):c.3665A>T (p.Glu1222Val)	CEBALID syndrome [RCV002471476]	uncertain significance	22	27796879	27796879	Human	1	name , alternate_id
156115029	CV2208963	single nucleotide variant	NM_002430.3(MN1):c.3898A>G (p.Thr1300Ala)	Inborn genetic diseases [RCV002707456]	uncertain significance	22	27750980	27750980	Human	1	name
156223693	CV2209269	single nucleotide variant	NM_002430.3(MN1):c.3683A>G (p.Tyr1228Cys)	Inborn genetic diseases [RCV002712293]	uncertain significance	22	27796861	27796861	Human	1	name
156383962	CV2220252	single nucleotide variant	NM_002430.3(MN1):c.3557C>G (p.Ala1186Gly)	Inborn genetic diseases [RCV002723115]	uncertain significance	22	27796987	27796987	Human	1	name
155940545	CV2222183	single nucleotide variant	NM_002430.3(MN1):c.3295C>G (p.Pro1099Ala)	Inborn genetic diseases [RCV002751870]	uncertain significance	22	27797249	27797249	Human	1	name
155983703	CV2240767	single nucleotide variant	NM_002430.3(MN1):c.3534G>T (p.Lys1178Asn)	Inborn genetic diseases [RCV002777948]	uncertain significance	22	27797010	27797010	Human	1	name
156356512	CV2257428	single nucleotide variant	NM_002430.3(MN1):c.3283G>A (p.Gly1095Arg)	Inborn genetic diseases [RCV002812172]	uncertain significance	22	27797261	27797261	Human	1	name
156178372	CV2287926	single nucleotide variant	NM_002430.3(MN1):c.3113C>T (p.Ser1038Leu)	Inborn genetic diseases [RCV002873516]	uncertain significance	22	27797431	27797431	Human	1	name
155944779	CV2291829	single nucleotide variant	NM_002430.3(MN1):c.3305C>T (p.Ala1102Val)	Inborn genetic diseases [RCV002880078]	uncertain significance	22	27797239	27797239	Human	1	name
156063850	CV2321109	single nucleotide variant	NM_002430.3(MN1):c.3716C>G (p.Ala1239Gly)	Inborn genetic diseases [RCV002925215]	uncertain significance	22	27796828	27796828	Human	1	name
156383861	CV2361707	single nucleotide variant	NM_002430.3(MN1):c.3426C>G (p.Ser1142Arg)	Inborn genetic diseases [RCV002679278]	uncertain significance	22	27797118	27797118	Human	1	name
155916445	CV2366667	single nucleotide variant	NM_002430.3(MN1):c.3892G>A (p.Val1298Met)	Inborn genetic diseases [RCV003012659]	uncertain significance	22	27750986	27750986	Human	1	name
156019763	CV2367004	single nucleotide variant	NM_002430.3(MN1):c.3919G>A (p.Asp1307Asn)	Inborn genetic diseases [RCV002998593]	likely benign	22	27750959	27750959	Human	1	name
243051697	CV2404063	single nucleotide variant	NM_002430.3(MN1):c.3383G>A (p.Gly1128Asp)	not provided [RCV003129097]	uncertain significance	22	27797161	27797161	Human		name
329367584	CV2456934	single nucleotide variant	NM_002430.3(MN1):c.3739C>T (p.Pro1247Ser)	Inborn genetic diseases [RCV003208365]	uncertain significance	22	27796805	27796805	Human	1	name
329384423	CV2472850	single nucleotide variant	NM_002430.3(MN1):c.3274G>T (p.Gly1092Trp)	not provided [RCV003214152]	uncertain significance	22	27797270	27797270	Human		name
401726053	CV2699053	single nucleotide variant	NM_002430.3(MN1):c.3332C>G (p.Ser1111Cys)	Inborn genetic diseases [RCV003246182]	uncertain significance	22	27797212	27797212	Human	1	name
401742945	CV2715357	single nucleotide variant	NM_002430.3(MN1):c.3544A>G (p.Lys1182Glu)	Inborn genetic diseases [RCV003292956]	likely benign	22	27797000	27797000	Human	1	name
401830506	CV2748208	single nucleotide variant	NM_002430.3(MN1):c.3020C>T (p.Ser1007Leu)	not provided [RCV003329815]	uncertain significance	22	27797524	27797524	Human		name
401923145	CV2796647	single nucleotide variant	NM_002430.3(MN1):c.3064C>T (p.Pro1022Ser)	MN1-related disorder [RCV003404266]	uncertain significance	22	27797480	27797480	Human		name , trait , alternate_id
401912305	CV2822075	single nucleotide variant	NM_002430.3(MN1):c.3550G>C (p.Glu1184Gln)	not provided [RCV003427175]	benign\|likely benign	22	27796994	27796994	Human		name
404980220	CV2850472	single nucleotide variant	NM_002430.3(MN1):c.3077G>A (p.Gly1026Glu)	not provided [RCV003488035]	uncertain significance	22	27797467	27797467	Human		name
405216266	CV2981691	single nucleotide variant	NM_002430.3(MN1):c.3634A>C (p.Ser1212Arg)	MN1-related disorder [RCV004731557]\|not provided [RCV003709272]	uncertain significance	22	27796910	27796910	Human	1	name , trait , alternate_id
405281393	CV3224088	single nucleotide variant	NM_002430.3(MN1):c.3048G>C (p.Leu1016Phe)	not specified [RCV003988470]	uncertain significance	22	27797496	27797496	Human		name
405795242	CV3336417	single nucleotide variant	NM_002430.3(MN1):c.3251T>G (p.Leu1084Arg)	Inborn genetic diseases [RCV004475470]	uncertain significance	22	27797293	27797293	Human	1	name
405795338	CV3336448	single nucleotide variant	NM_002430.3(MN1):c.3254C>T (p.Pro1085Leu)	Inborn genetic diseases [RCV004475501]	uncertain significance	22	27797290	27797290	Human	1	name
405788642	CV3340148	single nucleotide variant	NM_002430.3(MN1):c.3141C>A (p.Asp1047Glu)	Inborn genetic diseases [RCV004473384]	uncertain significance	22	27797403	27797403	Human	1	name
405795013	CV3340180	single nucleotide variant	NM_002430.3(MN1):c.3160G>A (p.Ala1054Thr)	Inborn genetic diseases [RCV004475399]	uncertain significance	22	27797384	27797384	Human	1	name
405757695	CV3346981	single nucleotide variant	NM_002430.3(MN1):c.3739C>G (p.Pro1247Ala)	Inborn genetic diseases [RCV004468081]	uncertain significance	22	27796805	27796805	Human	1	name
405758009	CV3347049	single nucleotide variant	NM_002430.3(MN1):c.3865G>A (p.Val1289Met)	Inborn genetic diseases [RCV004468149]	uncertain significance	22	27751013	27751013	Human	1	name
407518867	CV3453690	single nucleotide variant	NM_002430.3(MN1):c.3815C>T (p.Ser1272Phe)	Inborn genetic diseases [RCV004629022]	uncertain significance	22	27751063	27751063	Human	1	name
407518869	CV3453692	single nucleotide variant	NM_002430.3(MN1):c.3382G>A (p.Gly1128Ser)	Inborn genetic diseases [RCV004629023]	uncertain significance	22	27797162	27797162	Human	1	name
407495350	CV3453694	single nucleotide variant	NM_002430.3(MN1):c.3881C>A (p.Ala1294Asp)	Inborn genetic diseases [RCV004643207]	uncertain significance	22	27750997	27750997	Human	1	name
407518871	CV3453697	single nucleotide variant	NM_002430.3(MN1):c.3074T>C (p.Ile1025Thr)	Inborn genetic diseases [RCV004629024]	uncertain significance	22	27797470	27797470	Human	1	name
407504710	CV3495953	single nucleotide variant	NM_002430.3(MN1):c.3068A>G (p.Asp1023Gly)	not provided [RCV004697793]	uncertain significance	22	27797476	27797476	Human		name
408369932	CV3502899	single nucleotide variant	NM_002430.3(MN1):c.3943T>C (p.Phe1315Leu)	not provided [RCV004724020]	uncertain significance	22	27750935	27750935	Human		name
408370123	CV3502996	single nucleotide variant	NM_002430.3(MN1):c.3480C>G (p.Ile1160Met)	not provided [RCV004724117]	uncertain significance	22	27797064	27797064	Human		name
408379244	CV3516585	single nucleotide variant	NM_002430.3(MN1):c.3588C>G (p.Asp1196Glu)	MN1-related disorder [RCV004752609]	likely benign	22	27796956	27796956	Human		name , trait , alternate_id
408389733	CV3519014	single nucleotide variant	NM_002430.3(MN1):c.3647T>G (p.Leu1216Arg)	not provided [RCV004762323]	uncertain significance	22	27796897	27796897	Human		name
408393701	CV3519878	single nucleotide variant	NM_002430.3(MN1):c.3559G>A (p.Val1187Ile)	not provided [RCV004764174]	uncertain significance	22	27796985	27796985	Human		name
408391223	CV3523113	single nucleotide variant	NM_002430.3(MN1):c.3014T>C (p.Leu1005Pro)	not provided [RCV004770485]	uncertain significance	22	27797530	27797530	Human		name
408391869	CV3523477	single nucleotide variant	NM_002430.3(MN1):c.3767C>G (p.Pro1256Arg)	not provided [RCV004770851]	uncertain significance	22	27796777	27796777	Human		name
408387213	CV3524450	single nucleotide variant	NM_002430.3(MN1):c.3313C>G (p.Leu1105Val)	not provided [RCV004768324]	uncertain significance	22	27797231	27797231	Human		name
408389725	CV3524756	single nucleotide variant	NM_002430.3(MN1):c.3611C>G (p.Ser1204Cys)	not provided [RCV004769651]	uncertain significance	22	27796933	27796933	Human		name
408393351	CV3528442	single nucleotide variant	NM_002430.3(MN1):c.3724G>A (p.Asp1242Asn)	not provided [RCV004776210]	uncertain significance	22	27796820	27796820	Human		name
596930885	CV3529752	single nucleotide variant	NM_002430.3(MN1):c.3185G>A (p.Ser1062Asn)	not provided [RCV004780802]	uncertain significance	22	27797359	27797359	Human		name
596928929	CV3540626	single nucleotide variant	NM_002430.3(MN1):c.3949G>A (p.Ala1317Thr)	not provided [RCV004794954]	uncertain significance	22	27750929	27750929	Human		name
596943730	CV3543014	single nucleotide variant	NM_002430.3(MN1):c.3444C>A (p.Asp1148Glu)	not provided [RCV004798599]	uncertain significance	22	27797100	27797100	Human		name
597683459	CV3554154	single nucleotide variant	NM_002430.3(MN1):c.3518A>C (p.Gln1173Pro)	Inborn genetic diseases [RCV004952270]	uncertain significance	22	27797026	27797026	Human	1	name
597700594	CV3554160	single nucleotide variant	NM_002430.3(MN1):c.3023C>G (p.Pro1008Arg)	Inborn genetic diseases [RCV004956565]	uncertain significance	22	27797521	27797521	Human	1	name
597683510	CV3554172	single nucleotide variant	NM_002430.3(MN1):c.3685A>T (p.Met1229Leu)	Inborn genetic diseases [RCV004952278]	uncertain significance	22	27796859	27796859	Human	1	name
597834017	CV3735156	single nucleotide variant	NM_002430.3(MN1):c.3688C>T (p.Pro1230Ser)	not provided [RCV005054889]	uncertain significance	22	27796856	27796856	Human		name
598127108	CV3882464	single nucleotide variant	NM_002430.3(MN1):c.3079T>G (p.Ser1027Ala)	not provided [RCV005234016]	uncertain significance	22	27797465	27797465	Human		name
598167586	CV3986123	single nucleotide variant	NM_002430.3(MN1):c.3641T>C (p.Ile1214Thr)	Inborn genetic diseases [RCV005369548]	uncertain significance	22	27796903	27796903	Human	1	name
598200687	CV3986130	single nucleotide variant	NM_002430.3(MN1):c.3077G>T (p.Gly1026Val)	Inborn genetic diseases [RCV005375895]	uncertain significance	22	27797467	27797467	Human	1	name
616940208	CV4014717	single nucleotide variant	NM_002430.3(MN1):c.3820C>G (p.Pro1274Ala)	not provided [RCV005414211]	uncertain significance	22	27751058	27751058	Human		name
616935373	CV4016017	single nucleotide variant	NM_002430.3(MN1):c.3338C>T (p.Ser1113Leu)	not provided [RCV005414881]	uncertain significance	22	27797206	27797206	Human		name
617149838	CV4017320	single nucleotide variant	NM_002430.3(MN1):c.3469C>G (p.Gln1157Glu)	not provided [RCV005416977]	uncertain significance	22	27797075	27797075	Human		name
21068467	CV798076	single nucleotide variant	NM_002430.3(MN1):c.3903G>A (p.Trp1301Ter)	CEBALID syndrome [RCV001003397]\|Familial meningioma [RCV004768771]\|MN1 C-terminal truncation (MCTT) syndrome [RCV001258027]\|not provided [RCV000997888]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	22	27750975	27750975	Human	2	name , trait , alternate_id
21403800	CV800806	single nucleotide variant	NM_002430.3(MN1):c.3745G>T (p.Glu1249Ter)	CEBALID syndrome [RCV001003393]\|MN1 C-terminal truncation (MCTT) syndrome [RCV001258019]	pathogenic\|likely pathogenic	22	27796799	27796799	Human	1	name , trait , alternate_id
21403801	CV800807	single nucleotide variant	NM_002430.3(MN1):c.3817C>T (p.Gln1273Ter)	CEBALID syndrome [RCV001003394]\|MN1 C-terminal truncation (MCTT) syndrome [RCV001258021]	pathogenic\|likely pathogenic	22	27751061	27751061	Human	1	name , trait , alternate_id
21403805	CV800811	single nucleotide variant	NM_002430.3(MN1):c.3835C>T (p.Gln1279Ter)	CEBALID syndrome [RCV001003398]	pathogenic	22	27751043	27751043	Human	1	name , alternate_id
8628659	CV83803	single nucleotide variant	NM_002430.3(MN1):c.3883C>T (p.Arg1295Ter)	CEBALID syndrome [RCV001003395]\|Inborn genetic diseases [RCV000190793]\|MN1 C-terminal truncation (MCTT) syndrome [RCV001258025]\|not provided [RCV000726804]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance\|no classifications from unflagged records\|not provided	22	27750995	27750995	Human	2	name , trait , alternate_id
39457018	CV966338	single nucleotide variant	NM_002430.3(MN1):c.3778G>T (p.Glu1260Ter)	CEBALID syndrome [RCV001256178]\|MN1 C-terminal truncation (MCTT) syndrome [RCV001258020]\|not provided [RCV001773573]	pathogenic\|likely pathogenic\|uncertain significance	22	27796766	27796766	Human	1	name , trait , alternate_id
126729757	CV986117	single nucleotide variant	NM_002430.3(MN1):c.3274G>A (p.Gly1092Arg)	Familial meningioma [RCV001293913]	uncertain significance	22	27797270	27797270	Human	1	name
13435642	CV432388	microsatellite	NM_002430.3(MN1):c.912GCA[5] (p.Gln309del)	Hepatoblastoma [RCV000505688]\|MN1-related disorder [RCV003979905]	benign\|other	22	27799615	27799617	Human		name , trait , alternate_id
14695747	CV623012	deletion	NM_002430.3(MN1):c.772_776del (p.His258fs)	Chordoma [RCV000786031]	likely pathogenic	22	27799768	27799772	Human	1	name
15203046	CV705860	microsatellite	NM_002430.3(MN1):c.1602GCA[7] (p.Gln550dup)	not provided [RCV000958187]	benign	22	27798924	27798925	Human		name
15120719	CV717382	microsatellite	NM_002430.3(MN1):c.1865CGC[3] (p.Pro623dup)	not provided [RCV000962767]	benign	22	27798673	27798674	Human		name
150543429	CV1309454	microsatellite	NM_002430.3(MN1):c.1572GCA[10] (p.Gln550dup)	Inborn genetic diseases [RCV004040744]\|not provided [RCV003238518]	benign\|likely benign	22	27798945	27798946	Human		name
597683484	CV3554161	deletion	NM_002430.3(MN1):c.3706_3709del (p.Val1236fs)	Inborn genetic diseases [RCV004952274]	uncertain significance	22	27796835	27796838	Human	1	name
21403806	CV800812	microsatellite	NM_002430.3(MN1):c.3846_3849del (p.Val1283fs)	CEBALID syndrome [RCV001003399]	pathogenic	22	27751029	27751032	Human		name , alternate_id
40816084	CV967136	duplication	NM_002430.3(MN1):c.3893_3894dup (p.Pro1299fs)	MN1 C-terminal truncation (MCTT) syndrome [RCV001258026]	likely pathogenic	22	27750983	27750984	Human		name , trait
21403803	CV800809	duplication	NM_002430.3(MN1):c.3870_3879dup (p.Ala1294Ter)	CEBALID syndrome [RCV001003396]\|MN1 C-terminal truncation (MCTT) syndrome [RCV001258024]	pathogenic\|likely pathogenic	22	27750998	27750999	Human	1	name , trait , alternate_id
598201322	CV4007594	microsatellite	NM_002430.3(MN1):c.912GCA[4] (p.Gln308_Gln309del)	Familial meningioma [RCV005398426]	uncertain significance	22	27799615	27799620	Human		name , alternate_id
40816083	CV967137	indel	NM_002430.3(MN1):c.3849_3850delinsA (p.His1284fs)	MN1 C-terminal truncation (MCTT) syndrome [RCV001258023]	likely pathogenic	22	27751028	27751029	Human		name , trait
40816085	CV967140	deletion	NM_002430.3(MN1):c.536del (p.Ser178_Ser179insTer)	not provided [RCV001258028]	likely pathogenic	22	27800008	27800008	Human		name
401912326	CV2822090	microsatellite	NM_002430.3(MN1):c.1572GCA[5] (p.Gln547_Gln550del)	not provided [RCV003427190]	likely benign	22	27798946	27798957	Human		name
405283494	CV3202732	deletion	NM_002430.3(MN1):c.908_919del (p.Pro303_Gln306del)	MN1-related disorder [RCV003921837]	likely benign	22	27799625	27799636	Human		name , trait , alternate_id
40816082	CV967138	insertion	NM_002430.3(MN1):c.3730_3731insAAGAC (p.Thr1244fs)	MN1 C-terminal truncation (MCTT) syndrome [RCV001258018]	likely pathogenic	22	27796813	27796814	Human		name , trait
126911940	CV1038808	deletion	NM_002430.3(MN1):c.1596_1619del (p.Gln543_Gln550del)	not provided [RCV001355956]	uncertain significance	22	27798925	27798948	Human		name
155929154	CV2277979	deletion	NM_002430.3(MN1):c.1620_1640del (p.Gln544_Gln550del)	Inborn genetic diseases [RCV002860722]	uncertain significance	22	27798904	27798924	Human	1	name
155971869	CV2335729	microsatellite	NM_002430.3(MN1):c.912GCA[7] (p.Gln309_His310insGln)	Inborn genetic diseases [RCV002973052]\|MN1-related disorder [RCV003963755]	benign\|likely benign	22	27799614	27799615	Human		name , trait , alternate_id
405293239	CV3221359	deletion	NM_002430.3(MN1):c.1071_1085del (p.Gln358_Pro362del)	MN1-related disorder [RCV003966863]	likely benign	22	27799459	27799473	Human		name , trait , alternate_id
405771756	CV3346641	deletion	NM_002430.3(MN1):c.1605_1631del (p.Gln542_Gln550del)	Familial meningioma [RCV005392800]\|Inborn genetic diseases [RCV004470412]	likely benign\|uncertain significance	22	27798913	27798939	Human	2	name , alternate_id
156101588	CV2352190	microsatellite	NM_002430.3(MN1):c.1572GCA[11] (p.Gln550_Arg551insGlnGln)	Inborn genetic diseases [RCV002980030]\|not provided [RCV003427649]	benign\|likely benign	22	27798945	27798946	Human		name
405690705	CV3227431	microsatellite	NM_002430.3(MN1):c.912GCA[9] (p.Gln309_His310insGlnGlnGln)	CEBALID syndrome [RCV003991775]	uncertain significance	22	27799614	27799615	Human		name , alternate_id
243056128	CV2410335	indel	NM_002430.3(MN1):c.889_891delinsACCCAG (p.Pro297delinsThrGln)	not provided [RCV003132668]	uncertain significance	22	27799653	27799655	Human		name
155803135	CV1857956	duplication	NM_002430.3(MN1):c.876_887dup (p.Gln300_Gln301insProGlnGlnGln)	not provided [RCV002461806]	uncertain significance	22	27799656	27799657	Human		name
617154170	CV4022395	microsatellite	NM_002430.3(MN1):c.1602GCA[10] (p.Gln550_Arg551insGlnGlnGlnGln)	not provided [RCV005429752]	uncertain significance	22	27798924	27798925	Human		name
596927029	CV3532464	duplication	NM_002430.3(MN1):c.1771_1785dup (p.Val595_Gly596insHisGlyGlyProVal)	not provided [RCV004778562]	uncertain significance	22	27798758	27798759	Human		name
401912319	CV2822085	microsatellite	NM_002430.3(MN1):c.1584GCAGCAGCAGCAGCAACAGCA[1] (p.Gln544_Gln550del)	not provided [RCV003427185]	likely benign	22	27798919	27798939	Human		name
401913444	CV2801737	indel	NM_002430.3(MN1):c.3355_3374delinsAGCTA (p.Gly1119_Gly1125delinsSerTyr)	MN1-related disorder [RCV003400137]	uncertain significance	22	27797170	27797189	Human		name , trait , alternate_id
156077150	CV2331860	microsatellite	NM_002430.3(MN1):c.890CCCAGCAGCAGCAGCAGC[3] (p.Gln308_Gln309insProGlnGlnGlnGlnGln)	Inborn genetic diseases [RCV002951579]\|MN1-related disorder [RCV003928916]\|not provided [RCV003427635]	likely benign	22	27799618	27799619	Human		name , trait , alternate_id
10395488	CV166569	single nucleotide variant	NM_004958.4(MTOR):c.7255G>A (p.Glu2419Lys)	CEBALID syndrome [RCV001260512]\|Inborn genetic diseases [RCV004948196]\|Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome [RCV003444060]\|Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes [RCV005251085]\|not provided [RCV00 ... (more) 0190287]	pathogenic\|likely pathogenic\|not provided	1	11114363	11114363	Human	3	alternate_id
10448433	CV214480	single nucleotide variant	NM_004958.4(MTOR):c.5395G>A (p.Glu1799Lys)	CEBALID syndrome [RCV001260508]\|Inborn genetic diseases [RCV000624365]\|Intellectual disability [RCV001544505]\|Intellectual disability, severe [RCV001003568]\|Isolated focal cortical dysplasia type II [RCV001329983]\|Isolated focal cortical dysplasia type II [RCV003883143]\|Macrocephaly-intellectual dis ... (more) ability-neurodevelopmental disorder-small thorax syndrome [RCV000201885]\|Rare genetic intellectual disability [RCV001256976]\|not provided [RCV000255268]	pathogenic\|uncertain significance	1	11130747	11130747	Human	7	alternate_id
12848702	CV363332	single nucleotide variant	NM_004958.4(MTOR):c.4448G>A (p.Cys1483Tyr)	CEBALID syndrome [RCV001260505]\|Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome [RCV003992287]\|Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes [RCV001836816]\|not provided [RCV001861478]	pathogenic\|likely pathogenic	1	11157173	11157173	Human	2	alternate_id
12892644	CV404624	single nucleotide variant	NM_004958.4(MTOR):c.7280T>C (p.Leu2427Pro)	CEBALID syndrome [RCV001260513]\|Isolated focal cortical dysplasia type II [RCV000477731]\|Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes [RCV001836827]	pathogenic	1	11114338	11114338	Human	2	alternate_id
13531986	CV511151	single nucleotide variant	NM_004958.4(MTOR):c.7238G>T (p.Ser2413Ile)	CEBALID syndrome [RCV001260511]\|Inborn genetic diseases [RCV000623806]\|Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome [RCV003333085]	pathogenic\|likely pathogenic\|uncertain significance	1	11114380	11114380	Human	3	alternate_id
13819825	CV575484	single nucleotide variant	NM_004958.4(MTOR):c.5930C>T (p.Thr1977Ile)	CEBALID syndrome [RCV001260509]\|Isolated focal cortical dysplasia type II [RCV000991198]\|MTOR-related disorder [RCV005223131]\|MTOR-related megalencephaly and pigmentary mosaicism in skin [RCV000708565]\|not provided [RCV001384597]	pathogenic	1	11128107	11128107	Human	3	alternate_id
38486218	CV921576	single nucleotide variant	NM_004958.4(MTOR):c.4555G>A (p.Ala1519Thr)	CEBALID syndrome [RCV001260507]\|Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome [RCV001329982]\|not provided [RCV001220198]	pathogenic\|likely pathogenic\|uncertain significance	1	11150141	11150141	Human	2	alternate_id
40815140	CV969259	single nucleotide variant	NM_004958.4(MTOR):c.7501A>T (p.Ile2501Phe)	CEBALID syndrome [RCV001260514]	pathogenic	1	11109317	11109317	Human	1	alternate_id
40815135	CV969260	single nucleotide variant	NM_004958.4(MTOR):c.6050T>C (p.Ile2017Thr)	CEBALID syndrome [RCV001260510]	likely pathogenic	1	11127790	11127790	Human	1	alternate_id
40815131	CV969261	single nucleotide variant	NM_004958.4(MTOR):c.4556C>T (p.Ala1519Val)	CEBALID syndrome [RCV001260506]	likely pathogenic	1	11150140	11150140	Human	1	alternate_id
40815128	CV969262	single nucleotide variant	NM_004958.4(MTOR):c.4356A>T (p.Lys1452Asn)	CEBALID syndrome [RCV001260504]	likely pathogenic	1	11157265	11157265	Human	1	alternate_id
8657959	CV132903	single nucleotide variant	NM_000051.4(ATM):c.7475T>G (p.Leu2492Arg)	ATM-related disorder [RCV004739397]\|Astroblastoma, MN1-altered [RCV003325459]\|Ataxia-telangiectasia syndrome [RCV000195623]\|Familial cancer of breast [RCV000786770]\|Hereditary cancer-predisposing syndrome [RCV000115252]\|not provided [RCV000488003]\|not specified ... (more) [RCV000780920]	likely pathogenic\|conflicting interpretations of pathogenicity\|drug response\|uncertain significance	11	108330381	108330381	Human	4	trait
14732746	CV644357	single nucleotide variant	NM_000548.5(TSC2):c.5134G>A (p.Ala1712Thr)	Astroblastoma, MN1-altered [RCV003325215]\|Hereditary cancer-predisposing syndrome [RCV004949933]\|Isolated focal cortical dysplasia type II [RCV004569581]\|Tuberous sclerosis 2 [RCV000801997]	uncertain significance	16	2088113	2088113	Human	4	trait

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