Mtrr Variant Search Result - Rat Genome Database

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999 records found for search term Mtrr

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
8559717	CV22066	deletion	MTRR, 4-BP DEL, NT1675	Methylcobalamin deficiency type cblE [RCV000007442]	pathogenic				Human	1	name
8559720	CV22071	insertion	MTRR, 140-BP INS, NT903	Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type [RCV000007448]	pathogenic				Human		name
11582739	CV298203	single nucleotide variant	NM_002454.3(MTRR):c.*64T>C	Disorders of Intracellular Cobalamin Metabolism [RCV000262041]\|not provided [RCV004716406]	benign\|uncertain significance	5	7900122	7900122	Human	1	name
405292718	CV3217295	single nucleotide variant	NM_002454.3(MTRR):c.-45G>T	MTRR-related disorder [RCV003964708]	likely benign	5	7869196	7869196	Human		name , trait , alternate_id
28900652	CV894702	single nucleotide variant	NM_002454.3(MTRR):c.-41G>C	Disorders of Intracellular Cobalamin Metabolism [RCV001156350]	uncertain significance	5	7869200	7869200	Human	1	name
28900656	CV894703	single nucleotide variant	NM_002454.3(MTRR):c.-31G>A	Disorders of Intracellular Cobalamin Metabolism [RCV001156351]	uncertain significance	5	7869210	7869210	Human	1	name
28900658	CV894704	single nucleotide variant	NM_002454.3(MTRR):c.-28T>G	Disorders of Intracellular Cobalamin Metabolism [RCV001156352]	uncertain significance	5	7869213	7869213	Human	1	name
28904511	CV894705	single nucleotide variant	NM_002454.3(MTRR):c.-26G>T	Disorders of Intracellular Cobalamin Metabolism [RCV001158028]	uncertain significance	5	7869215	7869215	Human	1	name
28905055	CV894758	single nucleotide variant	NM_002454.3(MTRR):c.*21G>A	Disorders of Intracellular Cobalamin Metabolism [RCV001158250]	uncertain significance	5	7900079	7900079	Human	1	name
28905060	CV894759	single nucleotide variant	NM_002454.3(MTRR):c.*48T>C	Disorders of Intracellular Cobalamin Metabolism [RCV001158251]	uncertain significance	5	7900106	7900106	Human	1	name
28905066	CV894760	single nucleotide variant	NM_002454.3(MTRR):c.*49A>G	Disorders of Intracellular Cobalamin Metabolism [RCV001158252]\|not provided [RCV001563092]	benign\|likely benign	5	7900107	7900107	Human	1	name
8692040	CV142006	single nucleotide variant	NM_002454.2(MTRR):c.-119T>C	Disorders of Intracellular Cobalamin Metabolism [RCV000362823]\|Methylcobalamin deficiency type cblE [RCV001530449]\|not provided [RCV004715723]\|not specified [RCV000126883]	benign	5	7869122	7869122	Human	2	name
11653857	CV298104	single nucleotide variant	NM_002454.2(MTRR):c.-135A>C	Disorders of Intracellular Cobalamin Metabolism [RCV000313694]	uncertain significance	5	7869106	7869106	Human	1	name
11597025	CV298206	single nucleotide variant	NM_002454.3(MTRR):c.*541G>A	Disorders of Intracellular Cobalamin Metabolism [RCV000389294]\|not provided [RCV004716409]	benign	5	7900599	7900599	Human	1	name
11597219	CV298207	single nucleotide variant	NM_002454.3(MTRR):c.*907T>C	Disorders of Intracellular Cobalamin Metabolism [RCV000391849]	uncertain significance	5	7900965	7900965	Human	1	name
11595165	CV300502	single nucleotide variant	NM_002454.3(MTRR):c.*222A>G	Disorders of Intracellular Cobalamin Metabolism [RCV000367317]\|not provided [RCV004716407]	benign\|uncertain significance	5	7900280	7900280	Human	1	name
11591778	CV300511	single nucleotide variant	NM_002454.3(MTRR):c.*427T>C	Disorders of Intracellular Cobalamin Metabolism [RCV000332469]\|not provided [RCV004716408]	benign\|likely benign	5	7900485	7900485	Human	1	name
11591214	CV300515	single nucleotide variant	NM_002454.3(MTRR):c.*644A>G	Disorders of Intracellular Cobalamin Metabolism [RCV000326710]	benign\|likely benign	5	7900702	7900702	Human	1	name
11596054	CV300516	deletion	NM_002454.3(MTRR):c.*826del	Disorders of Intracellular Cobalamin Metabolism [RCV000377992]	benign	5	7900884	7900884	Human	1	name
11649174	CV300517	single nucleotide variant	NM_002454.3(MTRR):c.*853G>A	Disorders of Intracellular Cobalamin Metabolism [RCV000285895]	uncertain significance	5	7900911	7900911	Human	1	name
11657711	CV300519	single nucleotide variant	NM_002454.3(MTRR):c.*884T>C	Disorders of Intracellular Cobalamin Metabolism [RCV000343216]	uncertain significance	5	7900942	7900942	Human	1	name
11657198	CV304780	single nucleotide variant	NM_002454.3(MTRR):c.*709T>C	Disorders of Intracellular Cobalamin Metabolism [RCV000339600]	uncertain significance	5	7900767	7900767	Human	1	name
11603511	CV305029	single nucleotide variant	NM_002454.3(MTRR):c.*167A>G	Disorders of Intracellular Cobalamin Metabolism [RCV000300918]\|not provided [RCV001574415]	benign\|likely benign\|uncertain significance	5	7900225	7900225	Human	1	name
11647158	CV305039	deletion	NM_002454.3(MTRR):c.*264del	Disorders of Intracellular Cobalamin Metabolism [RCV000275057]	uncertain significance	5	7900321	7900321	Human	1	name
11599855	CV305041	single nucleotide variant	NM_002454.3(MTRR):c.*626C>G	Disorders of Intracellular Cobalamin Metabolism [RCV000269129]\|not provided [RCV004716410]	benign\|uncertain significance	5	7900684	7900684	Human	1	name
11610585	CV305043	single nucleotide variant	NM_002454.3(MTRR):c.*662T>A	Disorders of Intracellular Cobalamin Metabolism [RCV000383687]\|not provided [RCV004717561]	benign	5	7900720	7900720	Human	1	name
11602509	CV305045	single nucleotide variant	NM_002454.3(MTRR):c.*686G>T	Disorders of Intracellular Cobalamin Metabolism [RCV000291703]	uncertain significance	5	7900744	7900744	Human	1	name
28905072	CV894761	single nucleotide variant	NM_002454.3(MTRR):c.*151A>G	Disorders of Intracellular Cobalamin Metabolism [RCV001158253]\|not provided [RCV001558108]	benign\|likely benign	5	7900209	7900209	Human	1	name
28891383	CV894762	single nucleotide variant	NM_002454.3(MTRR):c.*163C>T	Disorders of Intracellular Cobalamin Metabolism [RCV001152770]	uncertain significance	5	7900221	7900221	Human	1	name
28891388	CV894763	single nucleotide variant	NM_002454.3(MTRR):c.*222A>C	Disorders of Intracellular Cobalamin Metabolism [RCV001152771]	uncertain significance	5	7900280	7900280	Human	1	name
28891393	CV894764	single nucleotide variant	NM_002454.3(MTRR):c.*401T>C	Disorders of Intracellular Cobalamin Metabolism [RCV001152772]	benign	5	7900459	7900459	Human	1	name
28891398	CV894765	single nucleotide variant	NM_002454.3(MTRR):c.*461T>C	Disorders of Intracellular Cobalamin Metabolism [RCV001152773]	benign	5	7900519	7900519	Human	1	name
28891401	CV894766	single nucleotide variant	NM_002454.3(MTRR):c.*490A>G	Disorders of Intracellular Cobalamin Metabolism [RCV001152774]	uncertain significance	5	7900548	7900548	Human	1	name
28894842	CV894767	single nucleotide variant	NM_002454.3(MTRR):c.*569A>G	Disorders of Intracellular Cobalamin Metabolism [RCV001154045]	uncertain significance	5	7900627	7900627	Human	1	name
28894847	CV894768	single nucleotide variant	NM_002454.3(MTRR):c.*648C>A	Disorders of Intracellular Cobalamin Metabolism [RCV001154046]	benign	5	7900706	7900706	Human	1	name
28894850	CV894769	single nucleotide variant	NM_002454.3(MTRR):c.*693G>T	Disorders of Intracellular Cobalamin Metabolism [RCV001154047]	uncertain significance	5	7900751	7900751	Human	1	name
28897056	CV894770	single nucleotide variant	NM_002454.3(MTRR):c.*717C>A	Disorders of Intracellular Cobalamin Metabolism [RCV001154888]	uncertain significance	5	7900775	7900775	Human	1	name
28897058	CV894771	single nucleotide variant	NM_002454.3(MTRR):c.*935T>C	Disorders of Intracellular Cobalamin Metabolism [RCV001154889]	uncertain significance	5	7900993	7900993	Human	1	name
28897063	CV894772	single nucleotide variant	NM_002454.3(MTRR):c.*935T>G	Disorders of Intracellular Cobalamin Metabolism [RCV001154890]	uncertain significance	5	7900993	7900993	Human	1	name
28897067	CV894773	single nucleotide variant	NM_002454.3(MTRR):c.*977T>C	Disorders of Intracellular Cobalamin Metabolism [RCV001154891]	uncertain significance	5	7901035	7901035	Human	1	name
127282131	CV1072902	single nucleotide variant	NM_002454.3(MTRR):c.401+9A>G	Methylcobalamin deficiency type cblE [RCV001410931]	likely benign	5	7875384	7875384	Human	1	name
127269472	CV1094502	single nucleotide variant	NM_002454.3(MTRR):c.781-4C>T	Methylcobalamin deficiency type cblE [RCV001430286]	likely benign	5	7883151	7883151	Human	1	name
127281583	CV1094505	duplication	NM_002454.3(MTRR):c.904-3dup	Methylcobalamin deficiency type cblE [RCV001447244]	likely benign	5	7885697	7885698	Human	1	name
127310716	CV1137000	single nucleotide variant	NM_002454.3(MTRR):c.130-4G>A	Methylcobalamin deficiency type cblE [RCV001481205]	likely benign	5	7873369	7873369	Human	1	name
151827975	CV1435574	single nucleotide variant	NM_002454.3(MTRR):c.781-5T>G	Methylcobalamin deficiency type cblE [RCV001955394]	likely benign\|uncertain significance	5	7883150	7883150	Human	1	name
151850632	CV1465902	single nucleotide variant	NM_002454.3(MTRR):c.401+1G>A	Methylcobalamin deficiency type cblE [RCV002033125]\|Neural tube defects, folate-sensitive [RCV003470947]	likely pathogenic	5	7875376	7875376	Human	2	name
151812460	CV1516007	single nucleotide variant	NM_002454.3(MTRR):c.402-2A>G	Methylcobalamin deficiency type cblE [RCV002012576]	likely pathogenic	5	7877942	7877942	Human	1	name
152121048	CV1521382	single nucleotide variant	NM_002454.3(MTRR):c.402-6G>T	Methylcobalamin deficiency type cblE [RCV002135713]	likely benign	5	7877938	7877938	Human	1	name
152138018	CV1570793	single nucleotide variant	NM_002454.3(MTRR):c.129+9C>T	Methylcobalamin deficiency type cblE [RCV002119975]	likely benign	5	7870932	7870932	Human	1	name
152042360	CV1618038	single nucleotide variant	NM_002454.3(MTRR):c.283+9C>T	Methylcobalamin deficiency type cblE [RCV002206514]	likely benign	5	7873535	7873535	Human	1	name
152049223	CV1627681	single nucleotide variant	NM_002454.3(MTRR):c.780+8A>G	Methylcobalamin deficiency type cblE [RCV002108733]	likely benign	5	7878330	7878330	Human	1	name
156282761	CV1896900	single nucleotide variant	NM_002454.3(MTRR):c.284-5T>G	Methylcobalamin deficiency type cblE [RCV003087176]	likely benign	5	7875253	7875253	Human	1	name
156192659	CV1916033	single nucleotide variant	NM_002454.3(MTRR):c.781-2A>C	Methylcobalamin deficiency type cblE [RCV002595427]	likely pathogenic	5	7883153	7883153	Human	1	name
156304927	CV1999777	single nucleotide variant	NM_002454.3(MTRR):c.904-4C>A	Methylcobalamin deficiency type cblE [RCV002671335]	likely benign	5	7885697	7885697	Human	1	name
156023793	CV2055693	single nucleotide variant	NM_002454.3(MTRR):c.283+1G>A	Methylcobalamin deficiency type cblE [RCV002820743]	likely pathogenic	5	7873527	7873527	Human	1	name
156025432	CV2055793	deletion	NM_002454.3(MTRR):c.402-6del	Methylcobalamin deficiency type cblE [RCV002820821]	likely benign	5	7877938	7877938	Human	1	name
156117148	CV2150617	single nucleotide variant	NM_002454.3(MTRR):c.129+7G>A	Methylcobalamin deficiency type cblE [RCV003021651]	likely benign	5	7870930	7870930	Human	1	name
156115779	CV2182911	single nucleotide variant	NM_002454.3(MTRR):c.781-8T>C	Methylcobalamin deficiency type cblE [RCV003039119]	likely benign	5	7883147	7883147	Human	1	name
401919817	CV2794958	single nucleotide variant	NM_002454.3(MTRR):c.781-2A>T	Methylcobalamin deficiency type cblE [RCV003388704]\|Methylcobalamin deficiency type cblG [RCV004577039]\|Neural tube defects, folate-sensitive [RCV003466073]	likely pathogenic\|uncertain significance	5	7883153	7883153	Human	4	name
401941641	CV2837874	single nucleotide variant	NM_002454.3(MTRR):c.-25-1G>A	Neural tube defects, folate-sensitive [RCV003461982]	likely pathogenic	5	7870769	7870769	Human	1	name
401946516	CV2837879	single nucleotide variant	NM_002454.3(MTRR):c.130-2A>G	Neural tube defects, folate-sensitive [RCV003470269]	likely pathogenic	5	7873371	7873371	Human	1	name
401946520	CV2837881	single nucleotide variant	NM_002454.3(MTRR):c.129+2T>G	Neural tube defects, folate-sensitive [RCV003470270]	likely pathogenic	5	7870925	7870925	Human	1	name
404977858	CV2851680	single nucleotide variant	NM_002454.3(MTRR):c.903+1G>A	Methylcobalamin deficiency type cblE [RCV003486328]	likely pathogenic	5	7883278	7883278	Human	1	name
402487183	CV2909883	single nucleotide variant	NM_002454.3(MTRR):c.402-1G>C	Methylcobalamin deficiency type cblE [RCV003507119]	likely pathogenic	5	7877943	7877943	Human	1	name
402487152	CV2914499	single nucleotide variant	NM_002454.3(MTRR):c.130-1G>A	Methylcobalamin deficiency type cblE [RCV003507115]	likely pathogenic	5	7873372	7873372	Human	1	name
402492220	CV2925648	single nucleotide variant	NM_002454.3(MTRR):c.781-6T>C	Methylcobalamin deficiency type cblE [RCV003507760]	likely benign	5	7883149	7883149	Human	1	name
402493671	CV2927336	single nucleotide variant	NM_002454.3(MTRR):c.904-1G>T	Methylcobalamin deficiency type cblE [RCV003507921]	likely pathogenic	5	7885700	7885700	Human	1	name
405130246	CV2956857	single nucleotide variant	NM_002454.3(MTRR):c.284-6C>T	Methylcobalamin deficiency type cblE [RCV003618200]	likely benign	5	7875252	7875252	Human	1	name
11592583	CV298209	single nucleotide variant	NM_002454.2(MTRR):c.*1059T>C	Disorders of Intracellular Cobalamin Metabolism [RCV000340298]\|not provided [RCV004716411]	benign	5	7901117	7901117	Human	1	name
405125170	CV3021775	single nucleotide variant	NM_002454.3(MTRR):c.903+9C>T	Methylcobalamin deficiency type cblE [RCV003617555]	likely benign	5	7883286	7883286	Human	1	name
11601777	CV304782	single nucleotide variant	NM_002454.2(MTRR):c.*1058A>T	Disorders of Intracellular Cobalamin Metabolism [RCV000285355]	uncertain significance	5	7901116	7901116	Human	1	name
404976966	CV3117444	single nucleotide variant	NM_002454.3(MTRR):c.904-2A>G	Methylcobalamin deficiency type cblE [RCV003825216]	likely pathogenic	5	7885699	7885699	Human	1	name
405237167	CV3169166	single nucleotide variant	NM_002454.3(MTRR):c.903+7T>C	Methylcobalamin deficiency type cblE [RCV003866445]	likely benign	5	7883284	7883284	Human	1	name
12846993	CV368256	single nucleotide variant	NM_002454.3(MTRR):c.781-4C>G	not specified [RCV000442693]	likely benign	5	7883151	7883151	Human		name
597939425	CV3775343	single nucleotide variant	NM_002454.3(MTRR):c.401+8C>T	Methylcobalamin deficiency type cblE [RCV005118169]	likely benign	5	7875383	7875383	Human	1	name
13532072	CV500967	single nucleotide variant	NM_002454.3(MTRR):c.-26+8G>C	not specified [RCV000606682]	likely benign	5	7869223	7869223	Human		name
13536607	CV501258	single nucleotide variant	NM_002454.3(MTRR):c.-26+6C>G	not specified [RCV000609244]	likely benign	5	7869221	7869221	Human		name
15186668	CV744253	single nucleotide variant	NM_002454.3(MTRR):c.904-4C>G	Inborn genetic diseases [RCV002540784]\|Methylcobalamin deficiency type cblE [RCV001274258]	likely benign	5	7885697	7885697	Human	2	name
26916750	CV851038	single nucleotide variant	NM_002454.3(MTRR):c.402-1G>T	Methylcobalamin deficiency type cblE [RCV001042201]\|Neural tube defects, folate-sensitive [RCV003461459]	likely pathogenic	5	7877943	7877943	Human	2	name
28904764	CV896138	single nucleotide variant	NM_002454.3(MTRR):c.780+5G>A	Disorders of Intracellular Cobalamin Metabolism [RCV001158133]	uncertain significance	5	7878327	7878327	Human	1	name
126771748	CV1006185	single nucleotide variant	NM_002454.3(MTRR):c.1676+3A>G	Inborn genetic diseases [RCV002546102]\|Methylcobalamin deficiency type cblE [RCV001323335]	uncertain significance	5	7895855	7895855	Human	2	name
127253438	CV1072918	duplication	NM_002454.3(MTRR):c.904-19dup	Methylcobalamin deficiency type cblE [RCV001400546]	likely benign	5	7885681	7885682	Human	1	name
127281762	CV1094509	single nucleotide variant	NM_002454.3(MTRR):c.1058-9C>T	Methylcobalamin deficiency type cblE [RCV001447341]	likely benign	5	7886606	7886606	Human	1	name
127303345	CV1116021	single nucleotide variant	NM_002454.3(MTRR):c.129+10G>A	Methylcobalamin deficiency type cblE [RCV001454714]	likely benign	5	7870933	7870933	Human	1	name
127333721	CV1116022	single nucleotide variant	NM_002454.3(MTRR):c.129+10G>C	Methylcobalamin deficiency type cblE [RCV001473100]	likely benign	5	7870933	7870933	Human	1	name
127335276	CV1116033	deletion	NM_002454.3(MTRR):c.904-10del	Methylcobalamin deficiency type cblE [RCV001474155]	likely benign	5	7885691	7885691	Human	1	name
127317038	CV1116036	deletion	NM_002454.3(MTRR):c.1058-8del	Methylcobalamin deficiency type cblE [RCV001465716]	likely benign	5	7886606	7886606	Human	1	name
127303334	CV1116043	single nucleotide variant	NM_002454.3(MTRR):c.1147-6T>C	Methylcobalamin deficiency type cblE [RCV001454710]	likely benign	5	7889089	7889089	Human	1	name
127307173	CV1116048	single nucleotide variant	NM_002454.3(MTRR):c.1371-8C>G	Methylcobalamin deficiency type cblE [RCV001462939]	likely benign	5	7892719	7892719	Human	1	name
127300471	CV1116059	single nucleotide variant	NM_002454.3(MTRR):c.1770-7A>G	Methylcobalamin deficiency type cblE [RCV001453904]	likely benign	5	7897058	7897058	Human	1	name
127327154	CV1137020	single nucleotide variant	NM_002454.3(MTRR):c.1558-8T>C	Methylcobalamin deficiency type cblE [RCV001506479]	likely benign	5	7895726	7895726	Human	1	name
150335637	CV1164789	single nucleotide variant	NM_002454.3(MTRR):c.284-64C>G	Methylcobalamin deficiency type cblE [RCV001530450]\|not provided [RCV001647366]	benign	5	7875194	7875194	Human	1	name
150335640	CV1164790	single nucleotide variant	NM_002454.3(MTRR):c.781-80G>A	Methylcobalamin deficiency type cblE [RCV001530451]\|not provided [RCV001615242]	benign	5	7883075	7883075	Human	1	name
150474978	CV1252941	duplication	NM_002454.3(MTRR):c.904-20dup	Methylcobalamin deficiency type cblE [RCV001776274]\|not provided [RCV001671849]	benign	5	7885669	7885670	Human	1	name
151232399	CV1316770	single nucleotide variant	NM_002454.3(MTRR):c.284-34T>C	not provided [RCV001786590]	likely benign	5	7875224	7875224	Human		name
151723171	CV1414112	single nucleotide variant	NM_002454.3(MTRR):c.1146+1G>C	Methylcobalamin deficiency type cblE [RCV002020460]	likely pathogenic	5	7886704	7886704	Human	1	name
152043557	CV1522450	single nucleotide variant	NM_002454.3(MTRR):c.1370+9A>G	Methylcobalamin deficiency type cblE [RCV002088277]	likely benign	5	7891423	7891423	Human	1	name
152083546	CV1526382	single nucleotide variant	NM_002454.3(MTRR):c.1058-5A>C	Methylcobalamin deficiency type cblE [RCV002170860]	likely benign	5	7886610	7886610	Human	1	name
152084806	CV1533594	single nucleotide variant	NM_002454.3(MTRR):c.1147-8T>C	Methylcobalamin deficiency type cblE [RCV002093331]	likely benign	5	7889087	7889087	Human	1	name
152129916	CV1549395	single nucleotide variant	NM_002454.3(MTRR):c.130-12C>G	Methylcobalamin deficiency type cblE [RCV002099343]	likely benign	5	7873361	7873361	Human	1	name
152164210	CV1560534	single nucleotide variant	NM_002454.3(MTRR):c.1371-4G>T	Methylcobalamin deficiency type cblE [RCV002160202]	likely benign	5	7892723	7892723	Human	1	name
152068940	CV1562110	single nucleotide variant	NM_002454.3(MTRR):c.903+19T>A	Methylcobalamin deficiency type cblE [RCV002169039]	likely benign	5	7883296	7883296	Human	1	name
152172460	CV1575842	duplication	NM_002454.3(MTRR):c.1677-9dup	Methylcobalamin deficiency type cblE [RCV002183846]	benign	5	7896844	7896845	Human	1	name
152143977	CV1582451	single nucleotide variant	NM_002454.3(MTRR):c.402-20C>T	Methylcobalamin deficiency type cblE [RCV002200952]	likely benign	5	7877924	7877924	Human	1	name
152142543	CV1607352	single nucleotide variant	NM_002454.3(MTRR):c.129+20A>T	Methylcobalamin deficiency type cblE [RCV002100977]	likely benign	5	7870943	7870943	Human	1	name
152033017	CV1610264	deletion	NM_002454.3(MTRR):c.1677-9del	Methylcobalamin deficiency type cblE [RCV002124857]	benign	5	7896845	7896845	Human	1	name
152109429	CV1617457	single nucleotide variant	NM_002454.3(MTRR):c.1328-4C>T	Methylcobalamin deficiency type cblE [RCV002116356]	likely benign	5	7891368	7891368	Human	1	name
152137139	CV1625471	single nucleotide variant	NM_002454.3(MTRR):c.1057+7G>T	Methylcobalamin deficiency type cblE [RCV002137693]	likely benign	5	7885861	7885861	Human	1	name
152130840	CV1636822	single nucleotide variant	NM_002454.3(MTRR):c.1677-6A>G	Methylcobalamin deficiency type cblE [RCV002199296]	likely benign	5	7896858	7896858	Human	1	name
152026232	CV1639351	single nucleotide variant	NM_002454.3(MTRR):c.1328-4C>G	Methylcobalamin deficiency type cblE [RCV002185084]	likely benign	5	7891368	7891368	Human	1	name
156010292	CV1880351	single nucleotide variant	NM_002454.3(MTRR):c.129+14C>G	Methylcobalamin deficiency type cblE [RCV003077048]	likely benign	5	7870937	7870937	Human	1	name
156370330	CV1888014	deletion	NM_002454.3(MTRR):c.1370+9del	Methylcobalamin deficiency type cblE [RCV003092368]	likely benign	5	7891423	7891423	Human	1	name
156156750	CV1906594	single nucleotide variant	NM_002454.3(MTRR):c.904-20T>C	Methylcobalamin deficiency type cblE [RCV003082737]	benign	5	7885681	7885681	Human	1	name
156372798	CV1920988	single nucleotide variant	NM_002454.3(MTRR):c.1769+6G>A	Methylcobalamin deficiency type cblE [RCV002603320]	uncertain significance	5	7896962	7896962	Human	1	name
156050425	CV1931848	single nucleotide variant	NM_002454.3(MTRR):c.903+11A>G	Methylcobalamin deficiency type cblE [RCV002620586]	likely benign	5	7883288	7883288	Human	1	name
156070447	CV1968679	single nucleotide variant	NM_002454.3(MTRR):c.1953-4C>T	Methylcobalamin deficiency type cblE [RCV002621228]	likely benign	5	7899910	7899910	Human	1	name
156416775	CV1969996	single nucleotide variant	NM_002454.3(MTRR):c.1146+3A>G	Methylcobalamin deficiency type cblE [RCV002589869]	uncertain significance	5	7886706	7886706	Human	1	name
156352471	CV1985741	single nucleotide variant	NM_002454.3(MTRR):c.1676+8C>T	Methylcobalamin deficiency type cblE [RCV002632078]	likely benign	5	7895860	7895860	Human	1	name
156244427	CV1992700	single nucleotide variant	NM_002454.3(MTRR):c.129+15A>G	Methylcobalamin deficiency type cblE [RCV002627245]	likely benign	5	7870938	7870938	Human	1	name
156299586	CV2001948	single nucleotide variant	NM_002454.3(MTRR):c.1953-4C>G	Methylcobalamin deficiency type cblE [RCV002671099]	likely benign	5	7899910	7899910	Human	1	name
156196341	CV2066613	single nucleotide variant	NM_002454.3(MTRR):c.1558-6T>C	Methylcobalamin deficiency type cblE [RCV002828784]	uncertain significance	5	7895728	7895728	Human	1	name
155909817	CV2073108	single nucleotide variant	NM_002454.3(MTRR):c.904-10T>C	Methylcobalamin deficiency type cblE [RCV002837623]	likely benign	5	7885691	7885691	Human	1	name
156100235	CV2087960	single nucleotide variant	NM_002454.3(MTRR):c.1057+8C>T	Methylcobalamin deficiency type cblE [RCV002848055]	likely benign	5	7885862	7885862	Human	1	name
156191580	CV2099012	single nucleotide variant	NM_002454.3(MTRR):c.1677-4T>C	Methylcobalamin deficiency type cblE [RCV002917466]	likely benign	5	7896860	7896860	Human	1	name
156110741	CV2161282	single nucleotide variant	NM_002454.3(MTRR):c.1952+7C>T	Methylcobalamin deficiency type cblE [RCV003038933]	likely benign	5	7897254	7897254	Human	1	name
156079671	CV2173725	single nucleotide variant	NM_002454.3(MTRR):c.1676+7T>G	Methylcobalamin deficiency type cblE [RCV003053982]	likely benign	5	7895859	7895859	Human	1	name
243064726	CV2410245	single nucleotide variant	NM_002454.3(MTRR):c.1676+2T>C	Methylcobalamin deficiency type cblE [RCV003143428]\|Neural tube defects, folate-sensitive [RCV004572859]	likely pathogenic	5	7895854	7895854	Human	2	name
401941644	CV2837878	single nucleotide variant	NM_002454.3(MTRR):c.1677-2A>G	Neural tube defects, folate-sensitive [RCV003461985]	likely pathogenic	5	7896862	7896862	Human	1	name
401946523	CV2837883	single nucleotide variant	NM_002454.3(MTRR):c.1146+1G>A	Neural tube defects, folate-sensitive [RCV003470271]	likely pathogenic	5	7886704	7886704	Human	1	name
401941649	CV2837886	single nucleotide variant	NM_002454.3(MTRR):c.1952+1G>A	Neural tube defects, folate-sensitive [RCV003461990]	likely pathogenic	5	7897248	7897248	Human	1	name
401946525	CV2837890	single nucleotide variant	NM_002454.3(MTRR):c.1677-1G>A	Methylcobalamin deficiency type cblE [RCV003507512]\|Methylcobalamin deficiency type cblE [RCV005036816]\|Neural tube defects, folate-sensitive [RCV003470272]	pathogenic\|likely pathogenic	5	7896863	7896863	Human	2	name
401942391	CV2837896	single nucleotide variant	NM_002454.3(MTRR):c.1057+1G>A	Neural tube defects, folate-sensitive [RCV003463065]	likely pathogenic	5	7885855	7885855	Human	1	name
402491250	CV2855321	single nucleotide variant	NM_002454.3(MTRR):c.1327+1G>A	Methylcobalamin deficiency type cblE [RCV003507681]	likely pathogenic	5	7889276	7889276	Human	1	name
402490401	CV2857766	single nucleotide variant	NM_002454.3(MTRR):c.129+13A>T	Methylcobalamin deficiency type cblE [RCV003507569]	likely benign	5	7870936	7870936	Human	1	name
402490585	CV2864431	duplication	NM_002454.3(MTRR):c.1677-7dup	Methylcobalamin deficiency type cblE [RCV003507588]	likely benign	5	7896855	7896856	Human	1	name
402497437	CV2873293	single nucleotide variant	NM_002454.3(MTRR):c.283+13C>T	Methylcobalamin deficiency type cblE [RCV003508365]	likely benign	5	7873539	7873539	Human	1	name
402498411	CV2880712	single nucleotide variant	NM_002454.3(MTRR):c.780+17T>G	Methylcobalamin deficiency type cblE [RCV003508445]	likely benign	5	7878339	7878339	Human	1	name
402500297	CV2892998	single nucleotide variant	NM_002454.3(MTRR):c.1953-9C>A	Methylcobalamin deficiency type cblE [RCV003508643]	likely benign	5	7899905	7899905	Human	1	name
402501762	CV2897807	single nucleotide variant	NM_002454.3(MTRR):c.904-16T>C	Methylcobalamin deficiency type cblE [RCV003508807]	likely benign	5	7885685	7885685	Human	1	name
402483620	CV2902761	single nucleotide variant	NM_002454.3(MTRR):c.130-14T>C	Methylcobalamin deficiency type cblE [RCV003506756]	likely benign	5	7873359	7873359	Human	1	name
402492994	CV2926323	single nucleotide variant	NM_002454.3(MTRR):c.903+15T>G	Methylcobalamin deficiency type cblE [RCV003507843]	likely benign	5	7883292	7883292	Human	1	name
402494155	CV2933819	deletion	NM_002454.3(MTRR):c.780+19del	Methylcobalamin deficiency type cblE [RCV003507974]	likely benign	5	7878341	7878341	Human	1	name
405130018	CV2941950	single nucleotide variant	NM_002454.3(MTRR):c.284-17G>A	Methylcobalamin deficiency type cblE [RCV003618176]	likely benign	5	7875241	7875241	Human	1	name
405132229	CV2963020	single nucleotide variant	NM_002454.3(MTRR):c.1328-6T>G	Methylcobalamin deficiency type cblE [RCV003618307]	likely benign	5	7891366	7891366	Human	1	name
11586296	CV298108	single nucleotide variant	NM_002454.3(MTRR):c.283+13C>G	Disorders of Intracellular Cobalamin Metabolism [RCV000287116]\|Methylcobalamin deficiency type cblE [RCV003507274]	likely benign\|uncertain significance	5	7873539	7873539	Human	2	name
405133560	CV2985945	single nucleotide variant	NM_002454.3(MTRR):c.401+17C>T	Methylcobalamin deficiency type cblE [RCV003618577]	likely benign	5	7875392	7875392	Human	1	name
405133464	CV2988713	single nucleotide variant	NM_002454.3(MTRR):c.130-20T>G	Methylcobalamin deficiency type cblE [RCV003618567]	likely benign	5	7873353	7873353	Human	1	name
405133514	CV2988971	single nucleotide variant	NM_002454.3(MTRR):c.130-17A>T	Methylcobalamin deficiency type cblE [RCV003618572]	likely benign	5	7873356	7873356	Human	1	name
405123125	CV3000502	single nucleotide variant	NM_002454.3(MTRR):c.129+20A>C	Methylcobalamin deficiency type cblE [RCV003617315]	likely benign	5	7870943	7870943	Human	1	name
11583957	CV300395	single nucleotide variant	NM_002454.3(MTRR):c.-26+11T>G	Disorders of Intracellular Cobalamin Metabolism [RCV000270541]	uncertain significance	5	7869226	7869226	Human	1	name
405123531	CV3011235	single nucleotide variant	NM_002454.3(MTRR):c.1328-8T>C	Methylcobalamin deficiency type cblE [RCV003617361]	likely benign	5	7891364	7891364	Human	1	name
405124936	CV3017768	single nucleotide variant	NM_002454.3(MTRR):c.1327+8G>A	Methylcobalamin deficiency type cblE [RCV003617527]	likely benign	5	7889283	7889283	Human	1	name
405126295	CV3036405	single nucleotide variant	NM_002454.3(MTRR):c.129+12T>C	Methylcobalamin deficiency type cblE [RCV003617708]	likely benign	5	7870935	7870935	Human	1	name
11606111	CV304678	single nucleotide variant	NM_002454.3(MTRR):c.-26+14C>T	Disorders of Intracellular Cobalamin Metabolism [RCV000327848]\|not provided [RCV000839033]	likely benign\|uncertain significance	5	7869229	7869229	Human	1	name
405135865	CV3051709	single nucleotide variant	NM_002454.3(MTRR):c.1769+9C>G	Methylcobalamin deficiency type cblE [RCV003618811]	likely benign	5	7896965	7896965	Human	1	name
405136132	CV3051821	single nucleotide variant	NM_002454.3(MTRR):c.402-18T>C	Methylcobalamin deficiency type cblE [RCV003618836]	likely benign	5	7877926	7877926	Human	1	name
405137636	CV3052319	single nucleotide variant	NM_002454.3(MTRR):c.130-18G>A	Methylcobalamin deficiency type cblE [RCV003618858]	likely benign	5	7873355	7873355	Human	1	name
405137945	CV3059743	single nucleotide variant	NM_002454.3(MTRR):c.401+17C>G	Methylcobalamin deficiency type cblE [RCV003618985]	likely benign	5	7875392	7875392	Human	1	name
405137056	CV3067993	single nucleotide variant	NM_002454.3(MTRR):c.780+17T>C	Methylcobalamin deficiency type cblE [RCV003618923]	likely benign	5	7878339	7878339	Human	1	name
405138312	CV3070897	deletion	NM_002454.3(MTRR):c.284-17del	Methylcobalamin deficiency type cblE [RCV003619045]	likely benign	5	7875241	7875241	Human	1	name
405138795	CV3080084	single nucleotide variant	NM_002454.3(MTRR):c.904-12G>T	Methylcobalamin deficiency type cblE [RCV003619094]	likely benign	5	7885689	7885689	Human	1	name
405193373	CV3118220	single nucleotide variant	NM_002454.3(MTRR):c.904-18A>G	Methylcobalamin deficiency type cblE [RCV003821130]	likely benign	5	7885683	7885683	Human	1	name
405188474	CV3121306	single nucleotide variant	NM_002454.3(MTRR):c.401+14T>A	Methylcobalamin deficiency type cblE [RCV003820762]	likely benign	5	7875389	7875389	Human	1	name
404990094	CV3131966	single nucleotide variant	NM_002454.3(MTRR):c.780+19A>G	Methylcobalamin deficiency type cblE [RCV003827095]	likely benign	5	7878341	7878341	Human	1	name
405223311	CV3151138	single nucleotide variant	NM_002454.3(MTRR):c.284-18T>C	Methylcobalamin deficiency type cblE [RCV003847563]	likely benign	5	7875240	7875240	Human	1	name
405229758	CV3153561	single nucleotide variant	NM_002454.3(MTRR):c.904-19C>T	Methylcobalamin deficiency type cblE [RCV003848626]	likely benign	5	7885682	7885682	Human	1	name
405243326	CV3164792	single nucleotide variant	NM_002454.3(MTRR):c.283+15C>G	Methylcobalamin deficiency type cblE [RCV003867873]	likely benign	5	7873541	7873541	Human	1	name
402476116	CV3183113	single nucleotide variant	NM_002454.3(MTRR):c.129+11T>C	Methylcobalamin deficiency type cblE [RCV003875176]	likely benign	5	7870934	7870934	Human	1	name
405873821	CV3398801	single nucleotide variant	NM_002454.3(MTRR):c.1952+2T>C	Neural tube defects, folate-sensitive [RCV004576281]	uncertain significance	5	7897249	7897249	Human	1	name
405873823	CV3398803	single nucleotide variant	NM_002454.3(MTRR):c.1677-1G>C	Neural tube defects, folate-sensitive [RCV004576283]	likely pathogenic	5	7896863	7896863	Human	1	name
407573312	CV3499114	single nucleotide variant	NM_002454.3(MTRR):c.1057+6A>C	not specified [RCV004700086]	uncertain significance	5	7885860	7885860	Human		name
12839370	CV368536	single nucleotide variant	NM_002454.3(MTRR):c.780+20T>C	Methylcobalamin deficiency type cblE [RCV002063372]\|not specified [RCV000428694]	benign\|likely benign	5	7878342	7878342	Human	1	name
12837606	CV368542	single nucleotide variant	NM_002454.3(MTRR):c.781-14A>G	Methylcobalamin deficiency type cblE [RCV002062559]\|not specified [RCV000425458]	benign\|likely benign	5	7883141	7883141	Human	1	name
597681899	CV3718571	single nucleotide variant	NM_002454.3(MTRR):c.1147-1G>A	Methylcobalamin deficiency type cblE [RCV005045459]	likely pathogenic	5	7889094	7889094	Human	1	name
597955009	CV3786801	single nucleotide variant	NM_002454.3(MTRR):c.129+14C>A	Methylcobalamin deficiency type cblE [RCV005121893]	likely benign	5	7870937	7870937	Human	1	name
597948746	CV3801237	single nucleotide variant	NM_002454.3(MTRR):c.1557+1G>C	Methylcobalamin deficiency type cblE [RCV005135417]	likely pathogenic	5	7892914	7892914	Human	1	name
597952269	CV3815741	single nucleotide variant	NM_002454.3(MTRR):c.401+19G>T	Methylcobalamin deficiency type cblE [RCV005161494]	likely benign	5	7875394	7875394	Human	1	name
13529506	CV500969	single nucleotide variant	NM_002454.3(MTRR):c.1057+8C>G	Methylcobalamin deficiency type cblE [RCV002531721]\|not specified [RCV000605766]	likely benign	5	7885862	7885862	Human	1	name
13535719	CV501679	single nucleotide variant	NM_002454.3(MTRR):c.129+16G>A	not specified [RCV000602537]	likely benign	5	7870939	7870939	Human		name
13530277	CV501686	single nucleotide variant	NM_002454.3(MTRR):c.402-19G>A	Methylcobalamin deficiency type cblE [RCV002063244]\|not specified [RCV000600639]	likely benign	5	7877925	7877925	Human	1	name
14707213	CV651355	duplication	NM_002454.3(MTRR):c.1677-2dup	MTRR-related disorder [RCV003965598]\|Methylcobalamin deficiency type cblE [RCV000806246]\|not provided [RCV003128710]	likely benign\|uncertain significance	5	7896861	7896862	Human	1	name , trait , alternate_id
15107011	CV695303	single nucleotide variant	NM_002454.3(MTRR):c.1677-8C>T	Methylcobalamin deficiency type cblE [RCV000871419]	likely benign	5	7896856	7896856	Human	1	name
15098614	CV759387	single nucleotide variant	NM_002454.3(MTRR):c.1769+8A>G	Methylcobalamin deficiency type cblE [RCV000914292]	likely benign	5	7896964	7896964	Human	1	name
15143635	CV775052	single nucleotide variant	NM_002454.3(MTRR):c.401+10G>A	Methylcobalamin deficiency type cblE [RCV000944277]	likely benign	5	7875385	7875385	Human	1	name
15177595	CV775085	single nucleotide variant	NM_002454.3(MTRR):c.1057+9C>T	Methylcobalamin deficiency type cblE [RCV000929196]	likely benign	5	7885863	7885863	Human	1	name
15119480	CV775195	single nucleotide variant	NM_002454.3(MTRR):c.1677-9T>C	Methylcobalamin deficiency type cblE [RCV000940192]	likely benign	5	7896855	7896855	Human	1	name
21069060	CV795724	single nucleotide variant	NM_002454.3(MTRR):c.1952+4A>G	not provided [RCV000998354]	uncertain significance	5	7897251	7897251	Human		name
26903803	CV851990	single nucleotide variant	NM_002454.3(MTRR):c.1769+1G>A	Methylcobalamin deficiency type cblE [RCV001036277]\|Methylcobalamin deficiency type cblE [RCV005036304]\|Neural tube defects, folate-sensitive [RCV003461431]	pathogenic\|likely pathogenic	5	7896957	7896957	Human	2	name
38476768	CV959773	single nucleotide variant	NM_002454.3(MTRR):c.1371-1G>A	Methylcobalamin deficiency type cblE [RCV001233224]	likely pathogenic	5	7892726	7892726	Human	1	name
127276368	CV1072920	duplication	NM_002454.3(MTRR):c.1146+10dup	Methylcobalamin deficiency type cblE [RCV001407139]	likely benign	5	7886706	7886707	Human	1	name
127268719	CV1094519	single nucleotide variant	NM_002454.3(MTRR):c.1371-10A>G	Methylcobalamin deficiency type cblE [RCV001440876]	likely benign	5	7892717	7892717	Human	1	name
127311845	CV1116047	single nucleotide variant	NM_002454.3(MTRR):c.1327+10C>G	Methylcobalamin deficiency type cblE [RCV001457013]	likely benign	5	7889285	7889285	Human	1	name
127325625	CV1116058	single nucleotide variant	NM_002454.3(MTRR):c.1769+10A>T	Methylcobalamin deficiency type cblE [RCV001468562]	likely benign	5	7896966	7896966	Human	1	name
127306663	CV1137017	deletion	NM_002454.3(MTRR):c.1370+12del	Methylcobalamin deficiency type cblE [RCV001500292]	likely benign	5	7891424	7891424	Human	1	name
127321829	CV1137019	single nucleotide variant	NM_002454.3(MTRR):c.1557+10T>C	Methylcobalamin deficiency type cblE [RCV001484696]	likely benign	5	7892923	7892923	Human	1	name
127299862	CV1155193	single nucleotide variant	NM_002454.3(MTRR):c.-26+755C>A	Methylcobalamin deficiency type cblE [RCV001513870]\|not provided [RCV004716724]	benign	5	7869970	7869970	Human	5	name
127299862	CV1155193	single nucleotide variant	NM_002454.3(MTRR):c.-26+755C>A	Methylcobalamin deficiency type cblE [RCV001513870]\|not provided [RCV004716724]	benign	5	7869970	7869971	Human	5	name
127318301	CV1155194	microsatellite	NM_002454.3(MTRR):c.283+9CT[3]	Methylcobalamin deficiency type cblE [RCV001521573]	benign	5	7873535	7873536	Human		name
127304882	CV1155195	deletion	NM_002454.3(MTRR):c.1146+10del	Methylcobalamin deficiency type cblE [RCV001516070]	benign	5	7886707	7886707	Human	1	name
150335642	CV1164791	single nucleotide variant	NM_002454.3(MTRR):c.1557+54T>C	Methylcobalamin deficiency type cblE [RCV001530452]\|not provided [RCV001713102]	benign	5	7892967	7892967	Human	1	name
150332242	CV1169132	duplication	NM_002454.3(MTRR):c.904-128dup	not provided [RCV001536798]	benign	5	7885562	7885563	Human		name
150409823	CV1176644	single nucleotide variant	NM_002454.3(MTRR):c.1952+67G>C	not provided [RCV001546380]	likely benign	5	7897314	7897314	Human		name
150422691	CV1180046	single nucleotide variant	NM_002454.3(MTRR):c.1058-86C>A	not provided [RCV001552982]	likely benign	5	7886529	7886529	Human		name
150416931	CV1180047	single nucleotide variant	NM_002454.3(MTRR):c.1370+69A>C	not provided [RCV001549891]	likely benign	5	7891483	7891483	Human		name
150428769	CV1186951	single nucleotide variant	NM_002454.3(MTRR):c.129+152C>G	not provided [RCV001562706]	likely benign	5	7871075	7871075	Human		name
150428259	CV1186953	single nucleotide variant	NM_002454.3(MTRR):c.1676+86T>C	not provided [RCV001562027]	likely benign	5	7895938	7895938	Human		name
150421473	CV1193635	single nucleotide variant	NM_002454.3(MTRR):c.781-291G>T	not provided [RCV001570561]	likely benign	5	7882864	7882864	Human		name
150417936	CV1193638	single nucleotide variant	NM_002454.3(MTRR):c.1676+57C>T	not provided [RCV001568990]	likely benign	5	7895909	7895909	Human		name
150465338	CV1201060	single nucleotide variant	NM_002454.3(MTRR):c.1557+47T>G	not provided [RCV001587540]	likely benign	5	7892960	7892960	Human		name
150453903	CV1205712	single nucleotide variant	NM_002454.3(MTRR):c.903+265G>A	not provided [RCV001585613]	likely benign	5	7883542	7883542	Human		name
150471835	CV1209627	single nucleotide variant	NM_002454.3(MTRR):c.130-272C>T	not provided [RCV001588738]	likely benign	5	7873101	7873101	Human		name
150482524	CV1209982	single nucleotide variant	NM_002454.3(MTRR):c.-26+263C>T	not provided [RCV001590680]	likely benign	5	7869478	7869478	Human		name
150481857	CV1222236	single nucleotide variant	NM_002454.3(MTRR):c.1557+95G>A	not provided [RCV001617034]	benign	5	7893008	7893008	Human		name
150497863	CV1236430	single nucleotide variant	NM_002454.3(MTRR):c.780+168G>A	not provided [RCV001656155]	benign	5	7878490	7878490	Human		name
150500053	CV1256023	single nucleotide variant	NM_002454.3(MTRR):c.401+210G>A	not provided [RCV001676646]	benign	5	7875585	7875585	Human		name
150507238	CV1256883	single nucleotide variant	NM_002454.3(MTRR):c.781-289C>T	not provided [RCV001678386]	benign	5	7882866	7882866	Human		name
150470797	CV1258664	single nucleotide variant	NM_002454.3(MTRR):c.903+518T>A	Methylcobalamin deficiency type cblE [RCV001832854]\|not provided [RCV001684210]	benign	5	7883795	7883795	Human	1	name
150456358	CV1260001	single nucleotide variant	NM_002454.3(MTRR):c.283+279G>A	not provided [RCV001681480]	benign	5	7873805	7873805	Human		name
150485580	CV1262122	single nucleotide variant	NM_002454.3(MTRR):c.-26+250C>T	not provided [RCV001686813]	benign	5	7869465	7869465	Human		name
150486706	CV1262618	single nucleotide variant	NM_002454.3(MTRR):c.903+751G>C	not provided [RCV001687015]	benign	5	7884028	7884028	Human		name
150443421	CV1266393	single nucleotide variant	NM_002454.3(MTRR):c.904-288T>C	not provided [RCV001690829]	benign	5	7885413	7885413	Human		name
150477957	CV1272128	single nucleotide variant	NM_002454.3(MTRR):c.1370+83A>G	not provided [RCV001696414]	benign	5	7891497	7891497	Human		name
150467674	CV1277611	single nucleotide variant	NM_002454.3(MTRR):c.402-226C>T	not provided [RCV001710906]	benign	5	7877718	7877718	Human		name
150492604	CV1281259	deletion	NM_002454.3(MTRR):c.-26+129del	not provided [RCV001716846]	benign	5	7869343	7869343	Human		name
150535784	CV1312033	single nucleotide variant	NM_002454.3(MTRR):c.1770-42G>C	not provided [RCV001779844]	likely benign	5	7897023	7897023	Human		name
8692032	CV141998	single nucleotide variant	NM_002454.3(MTRR):c.1370+19G>A	Methylcobalamin deficiency type cblE [RCV001519467]\|not provided [RCV001812070]\|not specified [RCV000126875]	benign	5	7891433	7891433	Human	1	name
8692035	CV142001	single nucleotide variant	NM_002454.3(MTRR):c.1676+20A>G	Methylcobalamin deficiency type cblE [RCV001520000]\|not provided [RCV004715721]\|not specified [RCV000126878]	benign	5	7895872	7895872	Human	1	name
151730001	CV1517735	single nucleotide variant	NM_002454.3(MTRR):c.1057+22C>T	not provided [RCV002052350]	likely benign	5	7885876	7885876	Human		name
152100076	CV1524735	single nucleotide variant	NM_002454.3(MTRR):c.1557+18T>C	Methylcobalamin deficiency type cblE [RCV002172980]	likely benign	5	7892931	7892931	Human	1	name
152158947	CV1529152	single nucleotide variant	NM_002454.3(MTRR):c.1327+10C>T	Methylcobalamin deficiency type cblE [RCV002159287]	likely benign	5	7889285	7889285	Human	1	name
152133034	CV1544767	single nucleotide variant	NM_002454.3(MTRR):c.1146+12T>C	Methylcobalamin deficiency type cblE [RCV002177054]	likely benign	5	7886715	7886715	Human	1	name
152138756	CV1570968	single nucleotide variant	NM_002454.3(MTRR):c.1058-16G>A	Methylcobalamin deficiency type cblE [RCV002120064]	likely benign	5	7886599	7886599	Human	1	name
152168790	CV1598130	single nucleotide variant	NM_002454.3(MTRR):c.1147-11C>G	Methylcobalamin deficiency type cblE [RCV002142566]	likely benign	5	7889084	7889084	Human	1	name
152157475	CV1630561	single nucleotide variant	NM_002454.3(MTRR):c.1147-14G>A	Methylcobalamin deficiency type cblE [RCV002122622]	benign	5	7889081	7889081	Human	1	name
156309236	CV1895178	duplication	NM_002454.3(MTRR):c.1676+15dup	Methylcobalamin deficiency type cblE [RCV003088340]	benign	5	7895860	7895861	Human	1	name
156375552	CV1930431	single nucleotide variant	NM_002454.3(MTRR):c.1952+13C>T	Methylcobalamin deficiency type cblE [RCV002633800]	likely benign	5	7897260	7897260	Human	1	name
156062314	CV1931099	single nucleotide variant	NM_002454.3(MTRR):c.1558-13T>C	Methylcobalamin deficiency type cblE [RCV002638327]	likely benign	5	7895721	7895721	Human	1	name
156441609	CV1940930	single nucleotide variant	NM_002454.3(MTRR):c.1769+15C>G	Methylcobalamin deficiency type cblE [RCV003111937]	likely benign	5	7896971	7896971	Human	1	name
156355378	CV2008913	single nucleotide variant	NM_002454.3(MTRR):c.1953-14A>G	Methylcobalamin deficiency type cblE [RCV002720489]	likely benign	5	7899900	7899900	Human	1	name
156079316	CV2022578	single nucleotide variant	NM_002454.3(MTRR):c.1952+10T>C	Methylcobalamin deficiency type cblE [RCV002760571]	likely benign	5	7897257	7897257	Human	1	name
156191432	CV2099008	single nucleotide variant	NM_002454.3(MTRR):c.1677-20C>T	Methylcobalamin deficiency type cblE [RCV002917461]	likely benign	5	7896844	7896844	Human	1	name
402494542	CV2856354	deletion	NM_002454.3(MTRR):c.1558-15del	Methylcobalamin deficiency type cblE [RCV003508045]	likely benign	5	7895719	7895719	Human	1	name
402496163	CV2870915	single nucleotide variant	NM_002454.3(MTRR):c.1146+19T>G	Methylcobalamin deficiency type cblE [RCV003508141]	likely benign	5	7886722	7886722	Human	1	name
402495371	CV2877669	single nucleotide variant	NM_002454.3(MTRR):c.1057+17T>C	Methylcobalamin deficiency type cblE [RCV003508122]	likely benign	5	7885871	7885871	Human	1	name
402501406	CV2887239	single nucleotide variant	NM_002454.3(MTRR):c.1328-13T>A	Methylcobalamin deficiency type cblE [RCV003508765]	likely benign	5	7891359	7891359	Human	1	name
402501721	CV2890696	single nucleotide variant	NM_002454.3(MTRR):c.1677-11T>C	Methylcobalamin deficiency type cblE [RCV003508802]	likely benign	5	7896853	7896853	Human	1	name
402500307	CV2893004	single nucleotide variant	NM_002454.3(MTRR):c.1328-12A>G	Methylcobalamin deficiency type cblE [RCV003508644]	likely benign	5	7891360	7891360	Human	1	name
402485564	CV2918898	single nucleotide variant	NM_002454.3(MTRR):c.1370+20T>A	Methylcobalamin deficiency type cblE [RCV003506942]	likely benign	5	7891434	7891434	Human	1	name
405130474	CV2953869	single nucleotide variant	NM_002454.3(MTRR):c.1327+20A>G	Methylcobalamin deficiency type cblE [RCV003618225]	likely benign	5	7889295	7889295	Human	1	name
405130832	CV2961604	single nucleotide variant	NM_002454.3(MTRR):c.1953-20C>T	Methylcobalamin deficiency type cblE [RCV003618262]	likely benign	5	7899894	7899894	Human	1	name
405124606	CV3010480	single nucleotide variant	NM_002454.3(MTRR):c.1952+10T>A	Methylcobalamin deficiency type cblE [RCV003617490]	likely benign	5	7897257	7897257	Human	1	name
405123634	CV3014510	single nucleotide variant	NM_002454.3(MTRR):c.1327+19A>G	Methylcobalamin deficiency type cblE [RCV003617374]	likely benign	5	7889294	7889294	Human	1	name
405123660	CV3014736	single nucleotide variant	NM_002454.3(MTRR):c.1953-18T>C	Methylcobalamin deficiency type cblE [RCV003617377]	likely benign	5	7899896	7899896	Human	1	name
405123990	CV3015643	single nucleotide variant	NM_002454.3(MTRR):c.1953-15T>C	Methylcobalamin deficiency type cblE [RCV003617417]	likely benign	5	7899899	7899899	Human	1	name
405124198	CV3016133	single nucleotide variant	NM_002454.3(MTRR):c.1328-13T>C	Methylcobalamin deficiency type cblE [RCV003617443]	likely benign	5	7891359	7891359	Human	1	name
405125935	CV3023989	single nucleotide variant	NM_002454.3(MTRR):c.1371-17T>C	Methylcobalamin deficiency type cblE [RCV003617642]	likely benign	5	7892710	7892710	Human	1	name
405125927	CV3027389	duplication	NM_002454.3(MTRR):c.1371-11dup	Methylcobalamin deficiency type cblE [RCV003617641]	likely benign	5	7892715	7892716	Human	1	name
405126326	CV3041953	single nucleotide variant	NM_002454.3(MTRR):c.1146+13G>T	Methylcobalamin deficiency type cblE [RCV003617712]	likely benign	5	7886716	7886716	Human	1	name
405126856	CV3043817	single nucleotide variant	NM_002454.3(MTRR):c.1057+12G>A	Methylcobalamin deficiency type cblE [RCV003617773]	likely benign	5	7885866	7885866	Human	1	name
405126595	CV3049898	single nucleotide variant	NM_002454.3(MTRR):c.1371-18G>A	Methylcobalamin deficiency type cblE [RCV003617743]	likely benign	5	7892709	7892709	Human	1	name
405137533	CV3051074	single nucleotide variant	NM_002454.3(MTRR):c.1557+16C>T	Methylcobalamin deficiency type cblE [RCV003618791]	likely benign	5	7892929	7892929	Human	1	name
405136374	CV3052330	single nucleotide variant	NM_002454.3(MTRR):c.1952+17C>A	Methylcobalamin deficiency type cblE [RCV003618859]	likely benign	5	7897264	7897264	Human	1	name
405137373	CV3061681	single nucleotide variant	NM_002454.3(MTRR):c.1147-14G>T	Methylcobalamin deficiency type cblE [RCV003618952]	likely benign	5	7889081	7889081	Human	1	name
405136639	CV3063269	single nucleotide variant	NM_002454.3(MTRR):c.1147-17C>T	Methylcobalamin deficiency type cblE [RCV003618884]	likely benign	5	7889078	7889078	Human	1	name
405136781	CV3067175	single nucleotide variant	NM_002454.3(MTRR):c.1558-14A>G	Methylcobalamin deficiency type cblE [RCV003618897]	likely benign	5	7895720	7895720	Human	1	name
405140959	CV3070142	single nucleotide variant	NM_002454.3(MTRR):c.1953-16T>C	Methylcobalamin deficiency type cblE [RCV003619013]	likely benign	5	7899898	7899898	Human	1	name
405140916	CV3070474	single nucleotide variant	NM_002454.3(MTRR):c.1770-14A>G	Methylcobalamin deficiency type cblE [RCV003619017]	likely benign	5	7897051	7897051	Human	1	name
405139075	CV3077321	single nucleotide variant	NM_002454.3(MTRR):c.1327+11G>A	Methylcobalamin deficiency type cblE [RCV003619122]	likely benign	5	7889286	7889286	Human	1	name
405139146	CV3077662	single nucleotide variant	NM_002454.3(MTRR):c.1147-15G>T	Methylcobalamin deficiency type cblE [RCV003619129]	likely benign	5	7889080	7889080	Human	1	name
405003829	CV3120692	single nucleotide variant	NM_002454.3(MTRR):c.1953-19T>C	Methylcobalamin deficiency type cblE [RCV003828295]	likely benign	5	7899895	7899895	Human	1	name
405125187	CV3126426	single nucleotide variant	NM_002454.3(MTRR):c.1370+12T>C	Methylcobalamin deficiency type cblE [RCV003815178]	likely benign	5	7891426	7891426	Human	1	name
405205706	CV3126663	single nucleotide variant	NM_002454.3(MTRR):c.1770-12A>G	Methylcobalamin deficiency type cblE [RCV003822597]	likely benign	5	7897053	7897053	Human	1	name
405184625	CV3152820	single nucleotide variant	NM_002454.3(MTRR):c.1558-12G>A	Methylcobalamin deficiency type cblE [RCV003842811]	likely benign	5	7895722	7895722	Human	1	name
405186500	CV3156400	single nucleotide variant	NM_002454.3(MTRR):c.1952+11A>T	Methylcobalamin deficiency type cblE [RCV003859278]	likely benign	5	7897258	7897258	Human	1	name
405207913	CV3162379	single nucleotide variant	NM_002454.3(MTRR):c.1769+11A>G	Methylcobalamin deficiency type cblE [RCV003861678]	likely benign	5	7896967	7896967	Human	1	name
405255252	CV3176087	single nucleotide variant	NM_002454.3(MTRR):c.1558-17T>C	Methylcobalamin deficiency type cblE [RCV003872171]	likely benign	5	7895717	7895717	Human	1	name
402513740	CV3178750	single nucleotide variant	NM_002454.3(MTRR):c.1952+20A>G	Methylcobalamin deficiency type cblE [RCV003879183]	likely benign	5	7897267	7897267	Human	1	name
597894985	CV3744051	single nucleotide variant	NM_002454.3(MTRR):c.1371-20T>C	Methylcobalamin deficiency type cblE [RCV005071521]	likely benign	5	7892707	7892707	Human	1	name
597960203	CV3756152	single nucleotide variant	NM_002454.3(MTRR):c.1058-19C>T	Methylcobalamin deficiency type cblE [RCV005081468]	likely benign	5	7886596	7886596	Human	1	name
597951231	CV3765355	single nucleotide variant	NM_002454.3(MTRR):c.1327+14T>G	Methylcobalamin deficiency type cblE [RCV005120999]	likely benign	5	7889289	7889289	Human	1	name
597944096	CV3776501	single nucleotide variant	NM_002454.3(MTRR):c.1769+10A>G	Methylcobalamin deficiency type cblE [RCV005119356]	likely benign	5	7896966	7896966	Human	1	name
597940462	CV3836695	single nucleotide variant	NM_002454.3(MTRR):c.1370+17A>G	Methylcobalamin deficiency type cblE [RCV005187715]	likely benign	5	7891431	7891431	Human	1	name
13540589	CV500970	single nucleotide variant	NM_002454.3(MTRR):c.1058-17C>T	Methylcobalamin deficiency type cblE [RCV002531158]\|not specified [RCV000614913]	likely benign	5	7886598	7886598	Human	1	name
13531118	CV500978	single nucleotide variant	NM_002454.3(MTRR):c.1147-16G>A	Methylcobalamin deficiency type cblE [RCV002063891]\|not specified [RCV000606365]	likely benign	5	7889079	7889079	Human	1	name
13526991	CV500986	single nucleotide variant	NM_002454.3(MTRR):c.1370+18C>T	Methylcobalamin deficiency type cblE [RCV001417863]\|not specified [RCV000604860]	likely benign	5	7891432	7891432	Human	1	name
14712297	CV651340	single nucleotide variant	NM_002454.3(MTRR):c.903+469T>C	Disorders of Intracellular Cobalamin Metabolism [RCV002537460]\|Methylcobalamin deficiency type cblE [RCV000820217]\|Neural tube defects, folate-sensitive [RCV003467497]\|not provided [RCV001532026]	pathogenic\|not provided	5	7883746	7883746	Human	3	name
14709257	CV661443	single nucleotide variant	NM_002454.3(MTRR):c.1769+14C>T	Methylcobalamin deficiency type cblE [RCV003507315]\|not provided [RCV000827384]	likely benign	5	7896970	7896970	Human	1	name
15144481	CV744075	single nucleotide variant	NM_002454.3(MTRR):c.1676+10T>C	Methylcobalamin deficiency type cblE [RCV000900010]	likely benign	5	7895862	7895862	Human	1	name
41405222	CV981502	single nucleotide variant	NM_002454.3(MTRR):c.1952+14G>A	Methylcobalamin deficiency type cblE [RCV003617921]\|not provided [RCV001812469]	likely benign	5	7897261	7897261	Human	1	name
150336348	CV1164942	single nucleotide variant	NM_002454.3(MTRR):c.1557+227C>T	not provided [RCV001530805]	benign	5	7893140	7893140	Human		name
150404998	CV1176643	single nucleotide variant	NM_002454.3(MTRR):c.1058-204T>C	not provided [RCV001544664]	likely benign	5	7886411	7886411	Human		name
150419602	CV1180048	single nucleotide variant	NM_002454.3(MTRR):c.1676+137G>A	not provided [RCV001551138]	likely benign	5	7895989	7895989	Human		name
150424631	CV1183691	single nucleotide variant	NM_002454.3(MTRR):c.1058-160A>G	not provided [RCV001556916]	likely benign	5	7886455	7886455	Human		name
150423206	CV1183692	single nucleotide variant	NM_002454.3(MTRR):c.1953-124T>G	not provided [RCV001555011]	likely benign	5	7899790	7899790	Human		name
150427735	CV1186952	single nucleotide variant	NM_002454.3(MTRR):c.1146+150G>A	not provided [RCV001561319]	likely benign	5	7886853	7886853	Human		name
150406867	CV1193637	single nucleotide variant	NM_002454.3(MTRR):c.1327+158A>G	not provided [RCV001572158]	likely benign	5	7889433	7889433	Human		name
150421563	CV1193639	single nucleotide variant	NM_002454.3(MTRR):c.1952+176G>A	not provided [RCV001570596]	likely benign	5	7897423	7897423	Human		name
150413308	CV1197405	single nucleotide variant	NM_002454.3(MTRR):c.1371-245A>G	not provided [RCV001574578]	likely benign	5	7892482	7892482	Human		name
150464861	CV1215345	single nucleotide variant	NM_002454.3(MTRR):c.1953-118G>C	not provided [RCV001614044]	benign	5	7899796	7899796	Human		name
150482030	CV1222269	single nucleotide variant	NM_002454.3(MTRR):c.1057+164G>C	not provided [RCV001617067]	benign	5	7886018	7886018	Human		name
150501871	CV1224315	single nucleotide variant	NM_002454.3(MTRR):c.1558-327G>A	not provided [RCV001620956]	benign	5	7895407	7895407	Human		name
150516500	CV1227095	single nucleotide variant	NM_002454.3(MTRR):c.1953-183A>G	not provided [RCV001639193]	benign	5	7899731	7899731	Human		name
150507618	CV1229134	single nucleotide variant	NM_002454.3(MTRR):c.1676+286G>A	not provided [RCV001636005]	benign	5	7896138	7896138	Human		name
150511498	CV1229477	single nucleotide variant	NM_002454.3(MTRR):c.1953-177T>C	not provided [RCV001637406]	benign	5	7899737	7899737	Human		name
150498265	CV1235538	deletion	NM_002454.3(MTRR):c.1058-141del	not provided [RCV001656220]	benign	5	7886473	7886473	Human		name
150502541	CV1241586	single nucleotide variant	NM_002454.3(MTRR):c.1371-124A>C	not provided [RCV001657177]	benign	5	7892603	7892603	Human		name
150466120	CV1268721	single nucleotide variant	NM_002454.3(MTRR):c.1370+269C>T	not provided [RCV001694417]	benign	5	7891683	7891683	Human		name
150485000	CV1273888	single nucleotide variant	NM_002454.3(MTRR):c.1328-275A>G	not provided [RCV001698621]	benign	5	7891097	7891097	Human		name
150451344	CV1276582	single nucleotide variant	NM_002454.3(MTRR):c.1057+137T>C	not provided [RCV001708371]	benign	5	7885991	7885991	Human		name
150436289	CV1286350	single nucleotide variant	NM_002454.3(MTRR):c.1371-196A>T	not provided [RCV001724426]	benign	5	7892531	7892531	Human		name
150531653	CV1311146	single nucleotide variant	NM_002454.3(MTRR):c.1057+131A>G	not provided [RCV001776881]	likely benign	5	7885985	7885985	Human		name
405236590	CV3169059	microsatellite	NM_002454.3(MTRR):c.1370+2TAC[3]	Methylcobalamin deficiency type cblE [RCV003866338]	likely benign	5	7891415	7891416	Human		name
151856103	CV1448963	deletion	NM_002454.3(MTRR):c.1554_1557+3del	Methylcobalamin deficiency type cblE [RCV001979539]\|Neural tube defects, folate-sensitive [RCV003464333]\|not provided [RCV005414630]	pathogenic\|likely pathogenic	5	7892910	7892916	Human	2	name
151787147	CV1479031	deletion	NM_002454.3(MTRR):c.401+2_401+7del	Methylcobalamin deficiency type cblE [RCV002046730]	likely pathogenic	5	7875373	7875378	Human	1	name
11609270	CV304679	single nucleotide variant	NM_002454.3(MTRR):c.6G>A (p.Arg2=)	Disorders of Intracellular Cobalamin Metabolism [RCV000366229]\|Methylcobalamin deficiency type cblE [RCV003766037]\|not provided [RCV004695885]	likely benign\|uncertain significance	5	7870800	7870800	Human	2	name
152057980	CV1543466	single nucleotide variant	NM_002454.3(MTRR):c.24T>C (p.Tyr8=)	Methylcobalamin deficiency type cblE [RCV002128009]	likely benign	5	7870818	7870818	Human	1	name
152120357	CV1547249	single nucleotide variant	NM_002454.3(MTRR):c.16T>C (p.Leu6=)	Methylcobalamin deficiency type cblE [RCV002154175]	likely benign	5	7870810	7870810	Human	1	name
152078380	CV1663804	single nucleotide variant	NM_002454.3(MTRR):c.15G>A (p.Leu5=)	Methylcobalamin deficiency type cblE [RCV002076042]	likely benign	5	7870809	7870809	Human	1	name
13530197	CV501676	single nucleotide variant	NM_002454.3(MTRR):c.13C>T (p.Leu5=)	Methylcobalamin deficiency type cblE [RCV002064016]\|not specified [RCV000600610]	likely benign	5	7870807	7870807	Human	1	name
15179900	CV735205	single nucleotide variant	NM_002454.3(MTRR):c.21A>G (p.Leu7=)	Methylcobalamin deficiency type cblE [RCV000907224]	likely benign	5	7870815	7870815	Human	1	name
15136004	CV765216	single nucleotide variant	NM_002454.3(MTRR):c.27T>C (p.Ala9=)	Disorders of Intracellular Cobalamin Metabolism [RCV001158029]\|MTRR-related disorder [RCV003970632]\|Methylcobalamin deficiency type cblE [RCV000943009]	likely benign\|uncertain significance	5	7870821	7870821	Human	2	name , trait , alternate_id
38476836	CV940012	deletion	NM_002454.3(MTRR):c.283+1_283+20del	Methylcobalamin deficiency type cblE [RCV001204859]	likely pathogenic	5	7873526	7873545	Human	1	name
38496465	CV959772	deletion	NM_002454.3(MTRR):c.973_1146+462del	Methylcobalamin deficiency type cblE [RCV001226410]	likely pathogenic	5	7885767	7887162	Human	1	name
127240420	CV1094518	deletion	NM_002454.3(MTRR):c.1328-7_1328-5del	Methylcobalamin deficiency type cblE [RCV001423334]	likely benign	5	7891361	7891363	Human	1	name
127311862	CV1116020	single nucleotide variant	NM_002454.3(MTRR):c.84A>G (p.Val28=)	Methylcobalamin deficiency type cblE [RCV001457017]	likely benign	5	7870878	7870878	Human	1	name
150454825	CV1232345	duplication	NM_002454.3(MTRR):c.904-21_904-20dup	not provided [RCV001648358]	benign	5	7885669	7885670	Human		name
152048080	CV1519855	single nucleotide variant	NM_002454.3(MTRR):c.39A>G (p.Gly13=)	Methylcobalamin deficiency type cblE [RCV002145317]	likely benign	5	7870833	7870833	Human	1	name
152098927	CV1595496	single nucleotide variant	NM_002454.3(MTRR):c.87T>C (p.His29=)	Methylcobalamin deficiency type cblE [RCV002213743]	likely benign	5	7870881	7870881	Human	1	name
156265781	CV2139948	microsatellite	NM_002454.3(MTRR):c.401+12_401+13del	Methylcobalamin deficiency type cblE [RCV003009087]	likely benign	5	7875385	7875386	Human		name
156388810	CV2376092	deletion	NM_002454.3(MTRR):c.1953-6_1953-2del	Inborn genetic diseases [RCV002680406]\|Neural tube defects, folate-sensitive [RCV004572835]	pathogenic\|likely pathogenic	5	7899908	7899912	Human	2	name
402487580	CV2910285	single nucleotide variant	NM_002454.3(MTRR):c.51C>G (p.Ala17=)	Methylcobalamin deficiency type cblE [RCV003507160]	likely benign	5	7870845	7870845	Human	1	name
405130466	CV2953796	single nucleotide variant	NM_002454.3(MTRR):c.57A>C (p.Ala19=)	Methylcobalamin deficiency type cblE [RCV003618224]	likely benign	5	7870851	7870851	Human	1	name
405131320	CV2973786	microsatellite	NM_002454.3(MTRR):c.903+17_903+20del	Methylcobalamin deficiency type cblE [RCV003618320]	likely benign	5	7883290	7883293	Human		name
405137669	CV3049259	single nucleotide variant	NM_002454.3(MTRR):c.51C>T (p.Ala17=)	Methylcobalamin deficiency type cblE [RCV003618866]	likely benign	5	7870845	7870845	Human	1	name
13536187	CV501418	single nucleotide variant	NM_002454.3(MTRR):c.75A>G (p.Gln25=)	Methylcobalamin deficiency type cblE [RCV002529638]\|not specified [RCV000608630]	likely benign	5	7870869	7870869	Human	1	name
14709293	CV655683	single nucleotide variant	NM_002454.3(MTRR):c.54C>T (p.Ile18=)	Methylcobalamin deficiency type cblE [RCV001274254]\|not provided [RCV000827393]	likely benign	5	7870848	7870848	Human	1	name
15152313	CV749600	single nucleotide variant	NM_002454.3(MTRR):c.81G>A (p.Val27=)	Methylcobalamin deficiency type cblE [RCV002544968]	likely benign	5	7870875	7870875	Human	1	name
26920166	CV830965	single nucleotide variant	NM_002454.3(MTRR):c.1A>G (p.Met1Val)	Methylcobalamin deficiency type cblE [RCV001059702]	pathogenic\|likely pathogenic	5	7870795	7870795	Human	1	name
40906909	CV978206	single nucleotide variant	NM_002454.3(MTRR):c.99A>C (p.Ala33=)	Methylcobalamin deficiency type cblE [RCV001280369]	likely benign\|uncertain significance	5	7870893	7870893	Human	1	name
127278288	CV1072900	single nucleotide variant	NM_002454.3(MTRR):c.162T>C (p.Val54=)	Methylcobalamin deficiency type cblE [RCV001408398]	likely benign	5	7873405	7873405	Human	1	name
127254776	CV1072901	single nucleotide variant	NM_002454.3(MTRR):c.280C>T (p.Leu94=)	Methylcobalamin deficiency type cblE [RCV001400866]	likely benign	5	7873523	7873523	Human	1	name
127293212	CV1116023	single nucleotide variant	NM_002454.3(MTRR):c.171T>A (p.Val57=)	Methylcobalamin deficiency type cblE [RCV001459167]	likely benign	5	7873414	7873414	Human	1	name
127336689	CV1116024	single nucleotide variant	NM_002454.3(MTRR):c.234C>T (p.Asn78=)	Methylcobalamin deficiency type cblE [RCV001475163]	likely benign	5	7873477	7873477	Human	1	name
127314762	CV1116025	single nucleotide variant	NM_002454.3(MTRR):c.261T>C (p.Ala87=)	Methylcobalamin deficiency type cblE [RCV001465056]	likely benign	5	7873504	7873504	Human	1	name
152028168	CV1586742	single nucleotide variant	NM_002454.3(MTRR):c.246G>A (p.Pro82=)	Methylcobalamin deficiency type cblE [RCV002085372]	likely benign	5	7873489	7873489	Human	1	name
152099786	CV1595633	single nucleotide variant	NM_002454.3(MTRR):c.288C>G (p.Leu96=)	Methylcobalamin deficiency type cblE [RCV002213849]	likely benign	5	7875262	7875262	Human	1	name
152104538	CV1645461	single nucleotide variant	NM_002454.3(MTRR):c.264C>T (p.His88=)	Methylcobalamin deficiency type cblE [RCV002133678]	likely benign	5	7873507	7873507	Human	1	name
156144398	CV1954079	single nucleotide variant	NM_002454.3(MTRR):c.240A>C (p.Thr80=)	Methylcobalamin deficiency type cblE [RCV002572687]	likely benign	5	7873483	7873483	Human	1	name
156419875	CV1967569	single nucleotide variant	NM_002454.3(MTRR):c.183C>T (p.Gly61=)	Methylcobalamin deficiency type cblE [RCV002613122]	likely benign	5	7873426	7873426	Human	1	name
156285600	CV2039213	single nucleotide variant	NM_002454.3(MTRR):c.132T>C (p.Tyr44=)	Methylcobalamin deficiency type cblE [RCV002770548]	likely benign	5	7873375	7873375	Human	1	name
156213443	CV2114620	single nucleotide variant	NM_002454.3(MTRR):c.240A>G (p.Thr80=)	Methylcobalamin deficiency type cblE [RCV002932157]	likely benign	5	7873483	7873483	Human	1	name
155941138	CV2114862	single nucleotide variant	NM_002454.3(MTRR):c.108C>T (p.His36=)	Methylcobalamin deficiency type cblE [RCV002904480]	likely benign	5	7870902	7870902	Human	1	name
155998686	CV2122732	single nucleotide variant	NM_002454.3(MTRR):c.26C>G (p.Ala9Gly)	Inborn genetic diseases [RCV004068180]\|Methylcobalamin deficiency type cblE [RCV002975075]	uncertain significance	5	7870820	7870820	Human	2	name
155927634	CV2145228	single nucleotide variant	NM_002454.3(MTRR):c.159T>C (p.Leu53=)	Methylcobalamin deficiency type cblE [RCV003013485]	likely benign	5	7873402	7873402	Human	1	name
156056157	CV2165587	single nucleotide variant	NM_002454.3(MTRR):c.102T>C (p.Asp34=)	Methylcobalamin deficiency type cblE [RCV003019564]	likely benign	5	7870896	7870896	Human	1	name
156365480	CV2176954	single nucleotide variant	NM_002454.3(MTRR):c.237A>G (p.Gln79=)	Methylcobalamin deficiency type cblE [RCV003049319]	likely benign	5	7873480	7873480	Human	1	name
402496990	CV2879354	single nucleotide variant	NM_002454.3(MTRR):c.279A>G (p.Leu93=)	Methylcobalamin deficiency type cblE [RCV003508292]	likely benign	5	7873522	7873522	Human	1	name
402484262	CV2900674	single nucleotide variant	NM_002454.3(MTRR):c.204A>G (p.Thr68=)	Methylcobalamin deficiency type cblE [RCV003506818]	likely benign	5	7873447	7873447	Human	1	name
405132063	CV2975932	deletion	NM_002454.3(MTRR):c.1057+9_1057+16del	Methylcobalamin deficiency type cblE [RCV003618418]	likely benign	5	7885861	7885868	Human	1	name
11596160	CV298105	single nucleotide variant	NM_002454.3(MTRR):c.210C>G (p.Arg70=)	Disorders of Intracellular Cobalamin Metabolism [RCV000379192]\|Methylcobalamin deficiency type cblE [RCV000642246]\|not provided [RCV001705519]\|not specified [RCV000427337]	benign\|likely benign\|uncertain significance	5	7873453	7873453	Human	2	name
405133529	CV2985626	single nucleotide variant	NM_002454.3(MTRR):c.177C>T (p.Thr59=)	Methylcobalamin deficiency type cblE [RCV003618574]	likely benign	5	7873420	7873420	Human	1	name
405133550	CV2985844	single nucleotide variant	NM_002454.3(MTRR):c.165T>C (p.Val55=)	Methylcobalamin deficiency type cblE [RCV003618576]	likely benign	5	7873408	7873408	Human	1	name
405047961	CV3137863	single nucleotide variant	NM_002454.3(MTRR):c.216T>C (p.Phe72=)	Methylcobalamin deficiency type cblE [RCV003831901]	likely benign	5	7873459	7873459	Human	1	name
12839470	CV368255	single nucleotide variant	NM_002454.3(MTRR):c.288C>T (p.Leu96=)	Disorders of Intracellular Cobalamin Metabolism [RCV001152557]\|MTRR-related disorder [RCV003959900]\|Methylcobalamin deficiency type cblE [RCV001083208]\|not provided [RCV000757491]\|not specified [RCV000428864]	benign\|likely benign	5	7875262	7875262	Human	2	name , trait , alternate_id
12847279	CV368532	single nucleotide variant	NM_002454.3(MTRR):c.144C>T (p.Thr48=)	Methylcobalamin deficiency type cblE [RCV000872422]\|not specified [RCV000443203]	benign\|likely benign	5	7873387	7873387	Human	1	name
12845208	CV368719	single nucleotide variant	NM_002454.3(MTRR):c.177C>G (p.Thr59=)	Disorders of Intracellular Cobalamin Metabolism [RCV001158030]\|Methylcobalamin deficiency type cblE [RCV000871367]\|not specified [RCV000439395]	benign\|likely benign	5	7873420	7873420	Human	2	name
597872114	CV3768463	duplication	NM_002454.3(MTRR):c.1677-10_1677-9dup	Methylcobalamin deficiency type cblE [RCV005122842]	benign	5	7896844	7896845	Human	1	name
13532467	CV501681	single nucleotide variant	NM_002454.3(MTRR):c.186C>T (p.Thr62=)	Methylcobalamin deficiency type cblE [RCV001474810]\|not specified [RCV000601370]	likely benign	5	7873429	7873429	Human	1	name
15135269	CV691880	single nucleotide variant	NM_002454.3(MTRR):c.246G>C (p.Pro82=)	Disorders of Intracellular Cobalamin Metabolism [RCV001152555]\|Methylcobalamin deficiency type cblE [RCV000876614]	benign\|uncertain significance	5	7873489	7873489	Human	2	name
15178494	CV735206	single nucleotide variant	NM_002454.3(MTRR):c.138A>G (p.Leu46=)	Methylcobalamin deficiency type cblE [RCV000906890]	likely benign	5	7873381	7873381	Human	1	name
15104043	CV749601	single nucleotide variant	NM_002454.3(MTRR):c.123C>T (p.Ser41=)	Methylcobalamin deficiency type cblE [RCV000915278]	likely benign	5	7870917	7870917	Human	1	name
15180377	CV765217	single nucleotide variant	NM_002454.3(MTRR):c.198C>T (p.Pro66=)	Methylcobalamin deficiency type cblE [RCV000929870]	likely benign	5	7873441	7873441	Human	1	name
15171502	CV765218	single nucleotide variant	NM_002454.3(MTRR):c.277T>C (p.Leu93=)	Methylcobalamin deficiency type cblE [RCV001469355]	likely benign	5	7873520	7873520	Human	1	name
15114296	CV782337	single nucleotide variant	NM_002454.3(MTRR):c.195A>G (p.Pro65=)	Methylcobalamin deficiency type cblE [RCV001459186]	likely benign	5	7873438	7873438	Human	1	name
127261105	CV1072903	single nucleotide variant	NM_002454.3(MTRR):c.495C>T (p.Gly165=)	Methylcobalamin deficiency type cblE [RCV001402349]	likely benign	5	7878037	7878037	Human	1	name
127277832	CV1072910	single nucleotide variant	NM_002454.3(MTRR):c.516T>C (p.Pro172=)	Methylcobalamin deficiency type cblE [RCV001408075]	likely benign	5	7878058	7878058	Human	1	name
127255528	CV1072911	single nucleotide variant	NM_002454.3(MTRR):c.519A>G (p.Ala173=)	Methylcobalamin deficiency type cblE [RCV001401036]	likely benign	5	7878061	7878061	Human	1	name
127230147	CV1072912	single nucleotide variant	NM_002454.3(MTRR):c.588C>T (p.Phe196=)	Methylcobalamin deficiency type cblE [RCV001394592]	likely benign	5	7878130	7878130	Human	1	name
127237867	CV1072913	single nucleotide variant	NM_002454.3(MTRR):c.606G>A (p.Lys202=)	Methylcobalamin deficiency type cblE [RCV001415010]	likely benign	5	7878148	7878148	Human	1	name
127231787	CV1072915	single nucleotide variant	NM_002454.3(MTRR):c.681A>G (p.Ser227=)	Methylcobalamin deficiency type cblE [RCV001413222]	likely benign	5	7878223	7878223	Human	1	name
127236390	CV1072916	single nucleotide variant	NM_002454.3(MTRR):c.693G>C (p.Ser231=)	Methylcobalamin deficiency type cblE [RCV001414663]	likely benign	5	7878235	7878235	Human	1	name
127233161	CV1072919	single nucleotide variant	NM_002454.3(MTRR):c.942C>T (p.Ser314=)	Methylcobalamin deficiency type cblE [RCV001413771]	likely benign	5	7885739	7885739	Human	1	name
127275943	CV1094493	single nucleotide variant	NM_002454.3(MTRR):c.498A>G (p.Ala166=)	Methylcobalamin deficiency type cblE [RCV001432575]	likely benign	5	7878040	7878040	Human	1	name
127232305	CV1094495	single nucleotide variant	NM_002454.3(MTRR):c.504G>A (p.Pro168=)	Methylcobalamin deficiency type cblE [RCV001421261]	likely benign	5	7878046	7878046	Human	1	name
127284375	CV1094498	single nucleotide variant	NM_002454.3(MTRR):c.573C>G (p.Val191=)	Methylcobalamin deficiency type cblE [RCV001449378]	likely benign	5	7878115	7878115	Human	1	name
127252450	CV1094499	single nucleotide variant	NM_002454.3(MTRR):c.573C>T (p.Val191=)	Methylcobalamin deficiency type cblE [RCV001436800]	likely benign	5	7878115	7878115	Human	1	name
127246326	CV1094501	single nucleotide variant	NM_002454.3(MTRR):c.744A>G (p.Glu248=)	Methylcobalamin deficiency type cblE [RCV001424497]\|not provided [RCV005243546]	likely benign	5	7878286	7878286	Human	1	name
127244676	CV1094503	single nucleotide variant	NM_002454.3(MTRR):c.849A>G (p.Gln283=)	Methylcobalamin deficiency type cblE [RCV001435089]	likely benign	5	7883223	7883223	Human	1	name
127232591	CV1094504	single nucleotide variant	NM_002454.3(MTRR):c.873A>G (p.Lys291=)	Methylcobalamin deficiency type cblE [RCV001421368]	likely benign	5	7883247	7883247	Human	1	name
127240333	CV1094506	single nucleotide variant	NM_002454.3(MTRR):c.909A>G (p.Thr303=)	Methylcobalamin deficiency type cblE [RCV001434208]	likely benign	5	7885706	7885706	Human	1	name
127265841	CV1094507	single nucleotide variant	NM_002454.3(MTRR):c.930A>C (p.Gly310=)	Methylcobalamin deficiency type cblE [RCV001440088]	likely benign	5	7885727	7885727	Human	1	name
127273885	CV1094508	single nucleotide variant	NM_002454.3(MTRR):c.984C>G (p.Leu328=)	Methylcobalamin deficiency type cblE [RCV001442733]	likely benign	5	7885781	7885781	Human	1	name
127321081	CV1116031	single nucleotide variant	NM_002454.3(MTRR):c.735A>G (p.Leu245=)	Methylcobalamin deficiency type cblE [RCV001467139]	likely benign	5	7878277	7878277	Human	1	name
127332388	CV1116034	single nucleotide variant	NM_002454.3(MTRR):c.936C>G (p.Ala312=)	Methylcobalamin deficiency type cblE [RCV001472186]	likely benign	5	7885733	7885733	Human	1	name
127292078	CV1116035	single nucleotide variant	NM_002454.3(MTRR):c.957C>T (p.Asn319=)	Methylcobalamin deficiency type cblE [RCV001476234]	likely benign	5	7885754	7885754	Human	1	name
127310626	CV1137001	single nucleotide variant	NM_002454.3(MTRR):c.312T>C (p.Phe104=)	Methylcobalamin deficiency type cblE [RCV001481186]	likely benign	5	7875286	7875286	Human	1	name
127308770	CV1137002	single nucleotide variant	NM_002454.3(MTRR):c.381A>G (p.Gly127=)	Methylcobalamin deficiency type cblE [RCV001500863]	likely benign	5	7875355	7875355	Human	1	name
127335207	CV1137005	single nucleotide variant	NM_002454.3(MTRR):c.858G>C (p.Thr286=)	Methylcobalamin deficiency type cblE [RCV001491356]	likely benign	5	7883232	7883232	Human	1	name
150477332	CV1272031	deletion	NM_002454.3(MTRR):c.129+228_129+230del	not provided [RCV001696316]	benign	5	7871151	7871153	Human		name
150466809	CV1277466	deletion	NM_002454.3(MTRR):c.903+236_903+248del	not provided [RCV001710761]	benign	5	7883512	7883524	Human		name
151862188	CV1338636	single nucleotide variant	NM_002454.3(MTRR):c.52A>G (p.Ile18Val)	Methylcobalamin deficiency type cblE [RCV001997272]\|Methylcobalamin deficiency type cblE [RCV005042579]	uncertain significance	5	7870846	7870846	Human	1	name
151839698	CV1364287	duplication	NM_002454.3(MTRR):c.228dup (p.Gln77fs)	Methylcobalamin deficiency type cblE [RCV001994586]	pathogenic	5	7873470	7873471	Human	1	name
8692042	CV142008	single nucleotide variant	NM_002454.3(MTRR):c.537T>C (p.Leu179=)	Disorders of Intracellular Cobalamin Metabolism [RCV000307309]\|Methylcobalamin deficiency type cblE [RCV001274257]\|not provided [RCV004715724]\|not specified [RCV000126885]	benign	5	7878079	7878079	Human	2	name
151794908	CV1437440	single nucleotide variant	NM_002454.3(MTRR):c.807A>G (p.Ser269=)	Methylcobalamin deficiency type cblE [RCV001876850]	likely benign	5	7883181	7883181	Human	1	name
152056573	CV1523060	deletion	NM_002454.3(MTRR):c.1952+10_1952+12del	Methylcobalamin deficiency type cblE [RCV002167513]	likely benign	5	7897255	7897257	Human	1	name
152025837	CV1528071	single nucleotide variant	NM_002454.3(MTRR):c.354T>G (p.Leu118=)	Methylcobalamin deficiency type cblE [RCV002084598]	likely benign	5	7875328	7875328	Human	1	name
152027538	CV1529473	single nucleotide variant	NM_002454.3(MTRR):c.630T>C (p.Asn210=)	Methylcobalamin deficiency type cblE [RCV002185534]	likely benign	5	7878172	7878172	Human	1	name
152058902	CV1532658	single nucleotide variant	NM_002454.3(MTRR):c.477A>C (p.Gly159=)	Methylcobalamin deficiency type cblE [RCV002208418]	likely benign	5	7878019	7878019	Human	1	name
152169886	CV1546682	single nucleotide variant	NM_002454.3(MTRR):c.477A>G (p.Gly159=)	Methylcobalamin deficiency type cblE [RCV002142935]	likely benign	5	7878019	7878019	Human	1	name
152081672	CV1546797	single nucleotide variant	NM_002454.3(MTRR):c.789C>T (p.Ser263=)	Methylcobalamin deficiency type cblE [RCV002130896]	likely benign	5	7883163	7883163	Human	1	name
152122076	CV1547695	single nucleotide variant	NM_002454.3(MTRR):c.423G>C (p.Pro141=)	Methylcobalamin deficiency type cblE [RCV002081691]	likely benign	5	7877965	7877965	Human	1	name
152109830	CV1551025	single nucleotide variant	NM_002454.3(MTRR):c.867C>T (p.Ala289=)	Methylcobalamin deficiency type cblE [RCV002152901]	likely benign	5	7883241	7883241	Human	1	name
152063369	CV1554364	single nucleotide variant	NM_002454.3(MTRR):c.979C>T (p.Leu327=)	Methylcobalamin deficiency type cblE [RCV002190802]	likely benign	5	7885776	7885776	Human	1	name
152083159	CV1554670	single nucleotide variant	NM_002454.3(MTRR):c.456G>A (p.Lys152=)	Methylcobalamin deficiency type cblE [RCV002211684]	likely benign	5	7877998	7877998	Human	1	name
152103930	CV1574697	single nucleotide variant	NM_002454.3(MTRR):c.459T>C (p.His153=)	Methylcobalamin deficiency type cblE [RCV002095894]	likely benign	5	7878001	7878001	Human	1	name
152151457	CV1578188	single nucleotide variant	NM_002454.3(MTRR):c.579T>C (p.Leu193=)	Methylcobalamin deficiency type cblE [RCV002158258]	likely benign	5	7878121	7878121	Human	1	name
152127446	CV1582356	single nucleotide variant	NM_002454.3(MTRR):c.936C>T (p.Ala312=)	Methylcobalamin deficiency type cblE [RCV002082412]	likely benign	5	7885733	7885733	Human	1	name
152143107	CV1596648	single nucleotide variant	NM_002454.3(MTRR):c.645C>T (p.Asn215=)	Methylcobalamin deficiency type cblE [RCV002157027]	likely benign	5	7878187	7878187	Human	1	name
152144198	CV1596921	single nucleotide variant	NM_002454.3(MTRR):c.636G>A (p.Val212=)	Methylcobalamin deficiency type cblE [RCV002157176]	likely benign	5	7878178	7878178	Human	1	name
152131218	CV1598022	single nucleotide variant	NM_002454.3(MTRR):c.702A>C (p.Pro234=)	Methylcobalamin deficiency type cblE [RCV002176826]	likely benign	5	7878244	7878244	Human	1	name
152163638	CV1600928	single nucleotide variant	NM_002454.3(MTRR):c.858G>A (p.Thr286=)	Methylcobalamin deficiency type cblE [RCV002141359]	likely benign	5	7883232	7883232	Human	1	name
152105784	CV1614750	single nucleotide variant	NM_002454.3(MTRR):c.507G>T (p.Val169=)	Methylcobalamin deficiency type cblE [RCV002079590]	likely benign	5	7878049	7878049	Human	1	name
152051562	CV1617068	single nucleotide variant	NM_002454.3(MTRR):c.333T>C (p.Ile111=)	Methylcobalamin deficiency type cblE [RCV002072450]	likely benign	5	7875307	7875307	Human	1	name
152163912	CV1619124	single nucleotide variant	NM_002454.3(MTRR):c.375C>T (p.Asp125=)	Methylcobalamin deficiency type cblE [RCV002123696]	likely benign	5	7875349	7875349	Human	1	name
152033790	CV1621361	single nucleotide variant	NM_002454.3(MTRR):c.462T>C (p.Phe154=)	Methylcobalamin deficiency type cblE [RCV002205239]	likely benign	5	7878004	7878004	Human	1	name
152093409	CV1625852	single nucleotide variant	NM_002454.3(MTRR):c.654T>C (p.Asn218=)	Methylcobalamin deficiency type cblE [RCV002150880]	likely benign	5	7878196	7878196	Human	1	name
152159900	CV1642276	single nucleotide variant	NM_002454.3(MTRR):c.708A>G (p.Ser236=)	Methylcobalamin deficiency type cblE [RCV002103598]	likely benign	5	7878250	7878250	Human	1	name
152096022	CV1653354	single nucleotide variant	NM_002454.3(MTRR):c.892T>C (p.Leu298=)	Methylcobalamin deficiency type cblE [RCV002094848]	likely benign	5	7883266	7883266	Human	1	name
152064908	CV1654391	single nucleotide variant	NM_002454.3(MTRR):c.612T>C (p.Ser204=)	Methylcobalamin deficiency type cblE [RCV002191020]	likely benign	5	7878154	7878154	Human	1	name
152090929	CV1654940	single nucleotide variant	NM_002454.3(MTRR):c.534C>T (p.Asp178=)	Methylcobalamin deficiency type cblE [RCV002212713]	likely benign	5	7878076	7878076	Human	1	name
152124430	CV1660553	single nucleotide variant	NM_002454.3(MTRR):c.303C>T (p.Tyr101=)	Methylcobalamin deficiency type cblE [RCV002154677]	likely benign	5	7875277	7875277	Human	1	name
152055508	CV1662605	single nucleotide variant	NM_002454.3(MTRR):c.612T>G (p.Ser204=)	Methylcobalamin deficiency type cblE [RCV002146173]	likely benign	5	7878154	7878154	Human	1	name
155985488	CV1883958	single nucleotide variant	NM_002454.3(MTRR):c.693G>A (p.Ser231=)	Methylcobalamin deficiency type cblE [RCV003075865]	likely benign	5	7878235	7878235	Human	1	name
156383789	CV1886699	single nucleotide variant	NM_002454.3(MTRR):c.636G>C (p.Val212=)	Methylcobalamin deficiency type cblE [RCV003093509]	likely benign	5	7878178	7878178	Human	1	name
156292411	CV1887166	single nucleotide variant	NM_002454.3(MTRR):c.318T>C (p.Asn106=)	Methylcobalamin deficiency type cblE [RCV003087540]	likely benign	5	7875292	7875292	Human	1	name
156371684	CV1916479	single nucleotide variant	NM_002454.3(MTRR):c.83T>C (p.Val28Ala)	Methylcobalamin deficiency type cblE [RCV002603228]	uncertain significance	5	7870877	7870877	Human	1	name
156414353	CV1986608	single nucleotide variant	NM_002454.3(MTRR):c.753G>A (p.Gln251=)	Methylcobalamin deficiency type cblE [RCV002609161]	likely benign	5	7878295	7878295	Human	1	name
156239383	CV2053020	single nucleotide variant	NM_002454.3(MTRR):c.348A>G (p.Gln116=)	Methylcobalamin deficiency type cblE [RCV002791294]	likely benign	5	7875322	7875322	Human	1	name
156309762	CV2063319	single nucleotide variant	NM_002454.3(MTRR):c.966T>C (p.Ser322=)	Methylcobalamin deficiency type cblE [RCV002834050]	likely benign	5	7885763	7885763	Human	1	name
156004091	CV2064660	single nucleotide variant	NM_002454.3(MTRR):c.342A>G (p.Arg114=)	Methylcobalamin deficiency type cblE [RCV002843547]	likely benign	5	7875316	7875316	Human	1	name
155982612	CV2070193	single nucleotide variant	NM_002454.3(MTRR):c.936C>A (p.Ala312=)	Methylcobalamin deficiency type cblE [RCV002842595]	likely benign	5	7885733	7885733	Human	1	name
156172328	CV2075638	single nucleotide variant	NM_002454.3(MTRR):c.816A>G (p.Pro272=)	Methylcobalamin deficiency type cblE [RCV002851570]	likely benign	5	7883190	7883190	Human	1	name
156137029	CV2085919	single nucleotide variant	NM_002454.3(MTRR):c.468A>G (p.Ser156=)	Methylcobalamin deficiency type cblE [RCV002871848]	likely benign	5	7878010	7878010	Human	1	name
156205388	CV2092695	single nucleotide variant	NM_002454.3(MTRR):c.55G>A (p.Ala19Thr)	Methylcobalamin deficiency type cblE [RCV002917944]\|not provided [RCV005233034]	uncertain significance	5	7870849	7870849	Human	1	name
156164012	CV2097016	single nucleotide variant	NM_002454.3(MTRR):c.396T>C (p.Cys132=)	Methylcobalamin deficiency type cblE [RCV002872766]	likely benign	5	7875370	7875370	Human	1	name
155977925	CV2100191	single nucleotide variant	NM_002454.3(MTRR):c.825A>G (p.Gln275=)	Methylcobalamin deficiency type cblE [RCV002881791]	likely benign	5	7883199	7883199	Human	1	name
156354426	CV2119021	single nucleotide variant	NM_002454.3(MTRR):c.393C>T (p.Asp131=)	Methylcobalamin deficiency type cblE [RCV002966548]	likely benign	5	7875367	7875367	Human	1	name
156263442	CV2138802	deletion	NM_002454.3(MTRR):c.290del (p.Gly97fs)	Methylcobalamin deficiency type cblE [RCV002988551]	pathogenic	5	7875263	7875263	Human	1	name
155967490	CV2142637	single nucleotide variant	NM_002454.3(MTRR):c.525G>C (p.Ser175=)	Methylcobalamin deficiency type cblE [RCV002995460]	likely benign	5	7878067	7878067	Human	1	name
155931121	CV2155890	single nucleotide variant	NM_002454.3(MTRR):c.414G>A (p.Val138=)	Methylcobalamin deficiency type cblE [RCV003013638]	likely benign	5	7877956	7877956	Human	1	name
156371951	CV2174665	single nucleotide variant	NM_002454.3(MTRR):c.516T>G (p.Pro172=)	Methylcobalamin deficiency type cblE [RCV003049774]	likely benign	5	7878058	7878058	Human	1	name
156366967	CV2192443	single nucleotide variant	NM_002454.3(MTRR):c.438C>T (p.Leu146=)	Methylcobalamin deficiency type cblE [RCV003066014]	likely benign	5	7877980	7877980	Human	1	name
8597323	CV22068	single nucleotide variant	NM_002454.3(MTRR):c.66A>G (p.Ile22Met)	Disorders of Intracellular Cobalamin Metabolism [RCV000264714]\|Down syndrome, susceptibility to [RCV000007445]\|Gastrointestinal stromal tumor [RCV000144926]\|Methotrexate response [RCV003482129]\|Methylcobalamin deficiency type cblE [RCV001274255]\|Neural tube defects, folate-sensitive, susceptibility ... (more) to [RCV000007444]\|not provided [RCV004716905]\|not specified [RCV000126873]	risk factor\|benign\|likely benign\|drug response\|uncertain significance	5	7870860	7870860	Human	6	name
401946527	CV2837893	deletion	NM_002454.3(MTRR):c.276del (p.Leu93fs)	Neural tube defects, folate-sensitive [RCV003470273]	likely pathogenic	5	7873517	7873517	Human	1	name
402491256	CV2855323	single nucleotide variant	NM_002454.3(MTRR):c.438C>A (p.Leu146=)	Methylcobalamin deficiency type cblE [RCV003507682]	likely benign	5	7877980	7877980	Human	1	name
402490362	CV2860808	single nucleotide variant	NM_002454.3(MTRR):c.369C>T (p.Phe123=)	Methylcobalamin deficiency type cblE [RCV003507564]	likely benign	5	7875343	7875343	Human	1	name
402500596	CV2886601	single nucleotide variant	NM_002454.3(MTRR):c.738C>T (p.Pro246=)	Methylcobalamin deficiency type cblE [RCV003508674]	likely benign	5	7878280	7878280	Human	1	name
402501647	CV2894309	single nucleotide variant	NM_002454.3(MTRR):c.324G>A (p.Gly108=)	Methylcobalamin deficiency type cblE [RCV003508794]	likely benign	5	7875298	7875298	Human	1	name
402483690	CV2900046	duplication	NM_002454.3(MTRR):c.1952+12_1952+16dup	Methylcobalamin deficiency type cblE [RCV003506763]	likely benign	5	7897258	7897259	Human	1	name
402484988	CV2904118	single nucleotide variant	NM_002454.3(MTRR):c.972A>C (p.Val324=)	Methylcobalamin deficiency type cblE [RCV003506886]	likely benign	5	7885769	7885769	Human	1	name
402487657	CV2910514	single nucleotide variant	NM_002454.3(MTRR):c.558C>T (p.His186=)	Methylcobalamin deficiency type cblE [RCV003507168]	likely benign	5	7878100	7878100	Human	1	name
402494944	CV2930484	deletion	NM_002454.3(MTRR):c.263del (p.His88fs)	Methylcobalamin deficiency type cblE [RCV003507987]	pathogenic	5	7873506	7873506	Human	1	name
405130391	CV2960179	single nucleotide variant	NM_002454.3(MTRR):c.438C>G (p.Leu146=)	Methylcobalamin deficiency type cblE [RCV003618216]	likely benign	5	7877980	7877980	Human	1	name
11597248	CV298161	single nucleotide variant	NM_002454.3(MTRR):c.423G>A (p.Pro141=)	Disorders of Intracellular Cobalamin Metabolism [RCV000392277]\|Methylcobalamin deficiency type cblE [RCV001426231]	likely benign\|uncertain significance	5	7877965	7877965	Human	2	name
405133340	CV2981752	single nucleotide variant	NM_002454.3(MTRR):c.882G>A (p.Leu294=)	Methylcobalamin deficiency type cblE [RCV003618554]	likely benign	5	7883256	7883256	Human	1	name
405123360	CV2993718	single nucleotide variant	NM_002454.3(MTRR):c.420G>A (p.Glu140=)	Methylcobalamin deficiency type cblE [RCV003617342]	likely benign	5	7877962	7877962	Human	1	name
405135806	CV2999924	single nucleotide variant	NM_002454.3(MTRR):c.678C>G (p.Ser226=)	Methylcobalamin deficiency type cblE [RCV003618781]	likely benign	5	7878220	7878220	Human	1	name
405134852	CV3001047	single nucleotide variant	NM_002454.3(MTRR):c.858G>T (p.Thr286=)	Methylcobalamin deficiency type cblE [RCV003618682]	likely benign	5	7883232	7883232	Human	1	name
11585361	CV300406	single nucleotide variant	NM_002454.3(MTRR):c.378T>C (p.Thr126=)	Disorders of Intracellular Cobalamin Metabolism [RCV000280563]\|Methylcobalamin deficiency type cblE [RCV001463592]	likely benign\|uncertain significance	5	7875352	7875352	Human	2	name
405124364	CV3006271	single nucleotide variant	NM_002454.3(MTRR):c.981A>G (p.Leu327=)	Methylcobalamin deficiency type cblE [RCV003617462]	likely benign	5	7885778	7885778	Human	1	name
405124409	CV3006489	single nucleotide variant	NM_002454.3(MTRR):c.345T>G (p.Leu115=)	Methylcobalamin deficiency type cblE [RCV003617467]	likely benign	5	7875319	7875319	Human	1	name
405124016	CV3012625	deletion	NM_002454.3(MTRR):c.227del (p.Ile76fs)	Methylcobalamin deficiency type cblE [RCV003617420]	pathogenic	5	7873470	7873470	Human	1	name
405124520	CV3016688	single nucleotide variant	NM_002454.3(MTRR):c.762G>A (p.Leu254=)	Methylcobalamin deficiency type cblE [RCV003617480]	likely benign	5	7878304	7878304	Human	1	name
11664408	CV304721	single nucleotide variant	NM_002454.3(MTRR):c.687C>T (p.Thr229=)	Disorders of Intracellular Cobalamin Metabolism [RCV000405533]	uncertain significance	5	7878229	7878229	Human	1	name
11608948	CV304723	single nucleotide variant	NM_002454.3(MTRR):c.876C>T (p.Thr292=)	Disorders of Intracellular Cobalamin Metabolism [RCV000361954]\|Methylcobalamin deficiency type cblE [RCV000871996]\|not provided [RCV004711009]\|not specified [RCV000417724]	benign\|likely benign\|uncertain significance	5	7883250	7883250	Human	2	name
405127003	CV3047239	single nucleotide variant	NM_002454.3(MTRR):c.360C>T (p.Ala120=)	Methylcobalamin deficiency type cblE [RCV003617791]	likely benign	5	7875334	7875334	Human	1	name
11607634	CV304981	single nucleotide variant	NM_002454.3(MTRR):c.540G>A (p.Val180=)	Disorders of Intracellular Cobalamin Metabolism [RCV000345758]\|Methylcobalamin deficiency type cblE [RCV000873170]\|not specified [RCV000426843]	benign\|likely benign\|uncertain significance	5	7878082	7878082	Human	2	name
405126528	CV3053162	single nucleotide variant	NM_002454.3(MTRR):c.582G>A (p.Leu194=)	Methylcobalamin deficiency type cblE [RCV003617735]	likely benign	5	7878124	7878124	Human	1	name
405137585	CV3054209	single nucleotide variant	NM_002454.3(MTRR):c.678C>T (p.Ser226=)	Methylcobalamin deficiency type cblE [RCV003618786]	likely benign	5	7878220	7878220	Human	1	name
405137978	CV3069784	microsatellite	NM_002454.3(MTRR):c.1953-14_1953-12del	Methylcobalamin deficiency type cblE [RCV003618988]	likely benign	5	7899895	7899897	Human		name
405138497	CV3073825	single nucleotide variant	NM_002454.3(MTRR):c.984C>T (p.Leu328=)	Methylcobalamin deficiency type cblE [RCV003619064]	likely benign	5	7885781	7885781	Human	1	name
405132025	CV3115154	single nucleotide variant	NM_002454.3(MTRR):c.915T>C (p.Phe305=)	Methylcobalamin deficiency type cblE [RCV003815999]	likely benign	5	7885712	7885712	Human	1	name
405096350	CV3139811	single nucleotide variant	NM_002454.3(MTRR):c.624G>A (p.Lys208=)	Methylcobalamin deficiency type cblE [RCV003835222]	likely benign	5	7878166	7878166	Human	1	name
405068339	CV3148925	single nucleotide variant	NM_002454.3(MTRR):c.472A>C (p.Arg158=)	Methylcobalamin deficiency type cblE [RCV003850687]	likely benign	5	7878014	7878014	Human	1	name
405210511	CV3162770	single nucleotide variant	NM_002454.3(MTRR):c.309C>T (p.Tyr103=)	Methylcobalamin deficiency type cblE [RCV003862069]	likely benign	5	7875283	7875283	Human	1	name
402488442	CV3171836	single nucleotide variant	NM_002454.3(MTRR):c.924G>A (p.Gln308=)	Methylcobalamin deficiency type cblE [RCV003876684]	likely benign	5	7885721	7885721	Human	1	name
405254145	CV3175001	single nucleotide variant	NM_002454.3(MTRR):c.525G>A (p.Ser175=)	Methylcobalamin deficiency type cblE [RCV003871453]	likely benign	5	7878067	7878067	Human	1	name
402508110	CV3182010	single nucleotide variant	NM_002454.3(MTRR):c.591T>C (p.Asp197=)	Methylcobalamin deficiency type cblE [RCV003878663]	likely benign	5	7878133	7878133	Human	1	name
402496178	CV3183051	single nucleotide variant	NM_002454.3(MTRR):c.483G>A (p.Glu161=)	Methylcobalamin deficiency type cblE [RCV003877359]	likely benign	5	7878025	7878025	Human	1	name
12837409	CV369945	single nucleotide variant	NM_002454.3(MTRR):c.828G>A (p.Val276=)	Methylcobalamin deficiency type cblE [RCV000642244]\|not specified [RCV000425104]	benign\|likely benign	5	7883202	7883202	Human	1	name
597736745	CV3718566	deletion	NM_002454.3(MTRR):c.226del (p.Ile76fs)	Methylcobalamin deficiency type cblE [RCV005037678]	likely pathogenic	5	7873467	7873467	Human	1	name
597967103	CV3751749	microsatellite	NM_002454.3(MTRR):c.1371-12_1371-11del	Methylcobalamin deficiency type cblE [RCV005083119]	likely benign	5	7892712	7892713	Human		name
597837632	CV3758066	single nucleotide variant	NM_002454.3(MTRR):c.801G>A (p.Val267=)	Methylcobalamin deficiency type cblE [RCV005085900]	likely benign	5	7883175	7883175	Human	1	name
13537458	CV501261	single nucleotide variant	NM_002454.3(MTRR):c.463A>C (p.Arg155=)	Methylcobalamin deficiency type cblE [RCV000871314]\|not specified [RCV000610430]	benign\|likely benign	5	7878005	7878005	Human	1	name
13527339	CV501264	insertion	NM_002454.3(MTRR):c.904-20_904-19insTC	Methylcobalamin deficiency type cblE [RCV001521221]\|not provided [RCV001722549]	benign	5	7885681	7885682	Human	1	name
14707043	CV634031	deletion	NM_002454.3(MTRR):c.270del (p.Tyr91fs)	Methylcobalamin deficiency type cblE [RCV000805731]\|Neural tube defects, folate-sensitive [RCV003467413]	pathogenic\|likely pathogenic	5	7873512	7873512	Human	2	name
15152870	CV699175	single nucleotide variant	NM_002454.3(MTRR):c.906T>C (p.Asn302=)	Methylcobalamin deficiency type cblE [RCV000945965]	likely benign	5	7885703	7885703	Human	1	name
15190939	CV735209	single nucleotide variant	NM_002454.3(MTRR):c.594T>C (p.Asp198=)	Methylcobalamin deficiency type cblE [RCV000910099]	likely benign	5	7878136	7878136	Human	1	name
15159200	CV749602	single nucleotide variant	NM_002454.3(MTRR):c.399A>G (p.Val133=)	Methylcobalamin deficiency type cblE [RCV000925232]	likely benign	5	7875373	7875373	Human	1	name
15162069	CV749603	single nucleotide variant	NM_002454.3(MTRR):c.432T>G (p.Ala144=)	Methylcobalamin deficiency type cblE [RCV000925815]\|not provided [RCV003438593]	likely benign	5	7877974	7877974	Human	1	name
15170269	CV749604	single nucleotide variant	NM_002454.3(MTRR):c.507G>C (p.Val169=)	MTRR-related disorder [RCV003960462]\|Methylcobalamin deficiency type cblE [RCV000927664]	likely benign	5	7878049	7878049	Human	1	name , trait , alternate_id
15202974	CV749605	single nucleotide variant	NM_002454.3(MTRR):c.879T>C (p.Thr293=)	Methylcobalamin deficiency type cblE [RCV000913645]	benign	5	7883253	7883253	Human	1	name
15140629	CV749606	single nucleotide variant	NM_002454.3(MTRR):c.939C>T (p.Phe313=)	Methylcobalamin deficiency type cblE [RCV000921706]	likely benign	5	7885736	7885736	Human	1	name
15124680	CV782338	single nucleotide variant	NM_002454.3(MTRR):c.702A>G (p.Pro234=)	Methylcobalamin deficiency type cblE [RCV001501906]	likely benign	5	7878244	7878244	Human	1	name
15101402	CV782339	single nucleotide variant	NM_002454.3(MTRR):c.867C>G (p.Ala289=)	Methylcobalamin deficiency type cblE [RCV001433282]	likely benign	5	7883241	7883241	Human	1	name
38480237	CV932956	duplication	NM_002454.3(MTRR):c.109dup (p.Cys37fs)	Methylcobalamin deficiency type cblE [RCV001206309]	pathogenic	5	7870902	7870903	Human	1	name
38465420	CV932957	deletion	NM_002454.3(MTRR):c.230del (p.Gln77fs)	Methylcobalamin deficiency type cblE [RCV001201719]\|Neural tube defects, folate-sensitive [RCV003462674]	pathogenic	5	7873473	7873473	Human	2	name
40906911	CV978208	single nucleotide variant	NM_002454.3(MTRR):c.993G>C (p.Leu331=)	Methylcobalamin deficiency type cblE [RCV001280371]	likely benign	5	7885790	7885790	Human	1	name
127277642	CV1072923	single nucleotide variant	NM_002454.3(MTRR):c.1266C>T (p.Ala422=)	Methylcobalamin deficiency type cblE [RCV001407967]	likely benign	5	7889214	7889214	Human	1	name
127243653	CV1072924	single nucleotide variant	NM_002454.3(MTRR):c.1287C>T (p.Leu429=)	Methylcobalamin deficiency type cblE [RCV001393562]	likely benign	5	7889235	7889235	Human	1	name
127243266	CV1072925	single nucleotide variant	NM_002454.3(MTRR):c.1362G>A (p.Ser454=)	Methylcobalamin deficiency type cblE [RCV001416116]	likely benign	5	7891406	7891406	Human	1	name
127281201	CV1072926	single nucleotide variant	NM_002454.3(MTRR):c.1368A>G (p.Ala456=)	Methylcobalamin deficiency type cblE [RCV001410271]	likely benign	5	7891412	7891412	Human	1	name
127242843	CV1072927	single nucleotide variant	NM_002454.3(MTRR):c.1452G>A (p.Leu484=)	Methylcobalamin deficiency type cblE [RCV001393409]	likely benign	5	7892808	7892808	Human	1	name
127241996	CV1072929	single nucleotide variant	NM_002454.3(MTRR):c.1666C>T (p.Leu556=)	Methylcobalamin deficiency type cblE [RCV001398106]	likely benign	5	7895842	7895842	Human	1	name
127235601	CV1072937	single nucleotide variant	NM_002454.3(MTRR):c.1794G>A (p.Lys598=)	Methylcobalamin deficiency type cblE [RCV001414508]	likely benign	5	7897089	7897089	Human	1	name
127257080	CV1072938	single nucleotide variant	NM_002454.3(MTRR):c.1809T>C (p.Thr603=)	Methylcobalamin deficiency type cblE [RCV001419177]	likely benign	5	7897104	7897104	Human	1	name
127232857	CV1072939	single nucleotide variant	NM_002454.3(MTRR):c.1869G>A (p.Lys623=)	Methylcobalamin deficiency type cblE [RCV001395905]	likely benign	5	7897164	7897164	Human	1	name
127258957	CV1072940	single nucleotide variant	NM_002454.3(MTRR):c.1912A>C (p.Arg638=)	Methylcobalamin deficiency type cblE [RCV001401789]	likely benign	5	7897207	7897207	Human	1	name
127278889	CV1072941	single nucleotide variant	NM_002454.3(MTRR):c.1932C>T (p.Asn644=)	Methylcobalamin deficiency type cblE [RCV001408784]	likely benign	5	7897227	7897227	Human	1	name
127252264	CV1094513	single nucleotide variant	NM_002454.3(MTRR):c.1227G>A (p.Gly409=)	Methylcobalamin deficiency type cblE [RCV001436749]	likely benign	5	7889175	7889175	Human	1	name
127267039	CV1094514	single nucleotide variant	NM_002454.3(MTRR):c.1233C>T (p.Ala411=)	Methylcobalamin deficiency type cblE [RCV001429542]	likely benign	5	7889181	7889181	Human	1	name
127234934	CV1094515	single nucleotide variant	NM_002454.3(MTRR):c.1260C>G (p.Ala420=)	Methylcobalamin deficiency type cblE [RCV001422163]	likely benign	5	7889208	7889208	Human	1	name
127254990	CV1094516	single nucleotide variant	NM_002454.3(MTRR):c.1260C>T (p.Ala420=)	Methylcobalamin deficiency type cblE [RCV001437380]	likely benign	5	7889208	7889208	Human	1	name
127284031	CV1094517	single nucleotide variant	NM_002454.3(MTRR):c.1311A>G (p.Pro437=)	Methylcobalamin deficiency type cblE [RCV001448928]	likely benign	5	7889259	7889259	Human	1	name
127272295	CV1094520	single nucleotide variant	NM_002454.3(MTRR):c.1425T>C (p.Phe475=)	Methylcobalamin deficiency type cblE [RCV001431242]	likely benign	5	7892781	7892781	Human	1	name
127248262	CV1094521	single nucleotide variant	NM_002454.3(MTRR):c.1443A>G (p.Thr481=)	Methylcobalamin deficiency type cblE [RCV001424894]	likely benign	5	7892799	7892799	Human	1	name
127249912	CV1094528	single nucleotide variant	NM_002454.3(MTRR):c.1680G>A (p.Glu560=)	Methylcobalamin deficiency type cblE [RCV001436188]	likely benign	5	7896867	7896867	Human	1	name
127248844	CV1094531	single nucleotide variant	NM_002454.3(MTRR):c.1764A>G (p.Leu588=)	Methylcobalamin deficiency type cblE [RCV001435952]	likely benign	5	7896951	7896951	Human	1	name
127284149	CV1094532	single nucleotide variant	NM_002454.3(MTRR):c.1857A>G (p.Glu619=)	Methylcobalamin deficiency type cblE [RCV001449018]	likely benign	5	7897152	7897152	Human	1	name
127284538	CV1094533	single nucleotide variant	NM_002454.3(MTRR):c.1875G>C (p.Val625=)	Methylcobalamin deficiency type cblE [RCV001449555]	likely benign	5	7897170	7897170	Human	1	name
127268787	CV1094534	single nucleotide variant	NM_002454.3(MTRR):c.1917C>A (p.Ile639=)	Methylcobalamin deficiency type cblE [RCV001430085]	likely benign	5	7897212	7897212	Human	1	name
127332510	CV1116037	single nucleotide variant	NM_002454.3(MTRR):c.1066T>C (p.Leu356=)	Methylcobalamin deficiency type cblE [RCV001472253]	likely benign	5	7886623	7886623	Human	1	name
127331551	CV1116044	single nucleotide variant	NM_002454.3(MTRR):c.1179T>C (p.Ser393=)	Methylcobalamin deficiency type cblE [RCV001471656]	likely benign	5	7889127	7889127	Human	1	name
127290035	CV1116045	single nucleotide variant	NM_002454.3(MTRR):c.1239T>C (p.Tyr413=)	Methylcobalamin deficiency type cblE [RCV001458316]	likely benign	5	7889187	7889187	Human	1	name
127292376	CV1116046	single nucleotide variant	NM_002454.3(MTRR):c.1257T>C (p.Asp419=)	Methylcobalamin deficiency type cblE [RCV001476294]	likely benign	5	7889205	7889205	Human	1	name
127335636	CV1116049	single nucleotide variant	NM_002454.3(MTRR):c.1554T>C (p.Pro518=)	Methylcobalamin deficiency type cblE [RCV001474406]	likely benign	5	7892910	7892910	Human	1	name
127334171	CV1116052	single nucleotide variant	NM_002454.3(MTRR):c.1594T>C (p.Leu532=)	Methylcobalamin deficiency type cblE [RCV001473427]	likely benign	5	7895770	7895770	Human	1	name
127318243	CV1116056	single nucleotide variant	NM_002454.3(MTRR):c.1741A>C (p.Arg581=)	Methylcobalamin deficiency type cblE [RCV001466118]	likely benign	5	7896928	7896928	Human	1	name
127315775	CV1116057	single nucleotide variant	NM_002454.3(MTRR):c.1764A>C (p.Leu588=)	Methylcobalamin deficiency type cblE [RCV001458056]	likely benign	5	7896951	7896951	Human	1	name
127297421	CV1116060	single nucleotide variant	NM_002454.3(MTRR):c.1839T>A (p.Ala613=)	Methylcobalamin deficiency type cblE [RCV001460245]	likely benign	5	7897134	7897134	Human	1	name
127334879	CV1116061	single nucleotide variant	NM_002454.3(MTRR):c.1887C>A (p.Ile629=)	Methylcobalamin deficiency type cblE [RCV001473902]	likely benign	5	7897182	7897182	Human	1	name
127332247	CV1116062	single nucleotide variant	NM_002454.3(MTRR):c.1893T>C (p.Leu631=)	Methylcobalamin deficiency type cblE [RCV001472110]	likely benign	5	7897188	7897188	Human	1	name
127337015	CV1116063	single nucleotide variant	NM_002454.3(MTRR):c.1902G>A (p.Gln634=)	Methylcobalamin deficiency type cblE [RCV001475351]	likely benign	5	7897197	7897197	Human	1	name
127314904	CV1116064	single nucleotide variant	NM_002454.3(MTRR):c.1938T>C (p.His646=)	Methylcobalamin deficiency type cblE [RCV001465093]	likely benign	5	7897233	7897233	Human	1	name
127297182	CV1116071	single nucleotide variant	NM_002454.3(MTRR):c.1956T>C (p.Asp652=)	Methylcobalamin deficiency type cblE [RCV001460193]	likely benign	5	7899917	7899917	Human	1	name
127332970	CV1116072	single nucleotide variant	NM_002454.3(MTRR):c.2076C>T (p.Tyr692=)	Methylcobalamin deficiency type cblE [RCV001472602]	likely benign	5	7900037	7900037	Human	1	name
127303603	CV1137010	single nucleotide variant	NM_002454.3(MTRR):c.1083T>C (p.Pro361=)	Methylcobalamin deficiency type cblE [RCV001499441]	likely benign	5	7886640	7886640	Human	1	name
127313107	CV1137011	single nucleotide variant	NM_002454.3(MTRR):c.1095T>C (p.Ser365=)	Methylcobalamin deficiency type cblE [RCV001502084]	likely benign	5	7886652	7886652	Human	1	name
127295310	CV1137012	single nucleotide variant	NM_002454.3(MTRR):c.1125A>G (p.Glu375=)	Methylcobalamin deficiency type cblE [RCV001497233]	likely benign	5	7886682	7886682	Human	1	name
127316395	CV1137015	single nucleotide variant	NM_002454.3(MTRR):c.1230A>C (p.Ala410=)	Methylcobalamin deficiency type cblE [RCV001503007]	likely benign	5	7889178	7889178	Human	1	name
127334695	CV1137016	single nucleotide variant	NM_002454.3(MTRR):c.1293C>T (p.Phe431=)	Methylcobalamin deficiency type cblE [RCV001491034]	likely benign	5	7889241	7889241	Human	1	name
127337675	CV1137018	single nucleotide variant	NM_002454.3(MTRR):c.1533C>T (p.Asp511=)	Methylcobalamin deficiency type cblE [RCV001492977]	likely benign	5	7892889	7892889	Human	1	name
127301597	CV1137021	single nucleotide variant	NM_002454.3(MTRR):c.1593C>T (p.His531=)	Methylcobalamin deficiency type cblE [RCV001478753]	likely benign	5	7895769	7895769	Human	1	name
127328219	CV1137022	single nucleotide variant	NM_002454.3(MTRR):c.1602T>C (p.Asp534=)	Methylcobalamin deficiency type cblE [RCV001486682]	likely benign	5	7895778	7895778	Human	1	name
127302617	CV1137023	single nucleotide variant	NM_002454.3(MTRR):c.1650C>T (p.Ala550=)	Methylcobalamin deficiency type cblE [RCV001499114]	likely benign	5	7895826	7895826	Human	1	name
127333792	CV1137025	single nucleotide variant	NM_002454.3(MTRR):c.1698C>T (p.His566=)	Methylcobalamin deficiency type cblE [RCV001490384]	likely benign	5	7896885	7896885	Human	1	name
127319188	CV1137026	single nucleotide variant	NM_002454.3(MTRR):c.1704T>C (p.Asp568=)	Methylcobalamin deficiency type cblE [RCV001483759]	likely benign	5	7896891	7896891	Human	1	name
127324634	CV1137027	single nucleotide variant	NM_002454.3(MTRR):c.1716A>C (p.Gly572=)	Methylcobalamin deficiency type cblE [RCV001505707]	likely benign	5	7896903	7896903	Human	1	name
127334644	CV1137031	single nucleotide variant	NM_002454.3(MTRR):c.1773A>G (p.Lys591=)	Methylcobalamin deficiency type cblE [RCV001490986]	likely benign	5	7897068	7897068	Human	1	name
127320392	CV1137032	single nucleotide variant	NM_002454.3(MTRR):c.1791T>C (p.Leu597=)	Methylcobalamin deficiency type cblE [RCV001484176]	likely benign	5	7897086	7897086	Human	1	name
127315746	CV1137033	single nucleotide variant	NM_002454.3(MTRR):c.1803C>T (p.Ile601=)	Methylcobalamin deficiency type cblE [RCV001482596]	likely benign	5	7897098	7897098	Human	1	name
127334431	CV1137038	single nucleotide variant	NM_002454.3(MTRR):c.2094A>G (p.Ser698=)	Methylcobalamin deficiency type cblE [RCV001490813]	likely benign	5	7900055	7900055	Human	1	name
150337287	CV1165762	single nucleotide variant	NM_002454.3(MTRR):c.166G>A (p.Val56Met)	Methylcobalamin deficiency type cblE [RCV001836441]\|Methylcobalamin deficiency type cblE [RCV002501867]\|Neural tube defects, folate-sensitive [RCV003470854]\|not provided [RCV001532514]	pathogenic\|likely pathogenic	5	7873409	7873409	Human	2	name
150528942	CV1307450	single nucleotide variant	NM_002454.3(MTRR):c.178A>G (p.Thr60Ala)	Inborn genetic diseases [RCV002540698]\|not provided [RCV001755587]	uncertain significance	5	7873421	7873421	Human	1	name
150542930	CV1315016	deletion	NM_002454.3(MTRR):c.916del (p.Ser306fs)	Methylcobalamin deficiency type cblE [RCV001782470]	likely pathogenic	5	7885710	7885710	Human	1	name
151869871	CV1375229	deletion	NM_002454.3(MTRR):c.340del (p.Arg114fs)	Methylcobalamin deficiency type cblE [RCV001960278]	pathogenic	5	7875314	7875314	Human	1	name
151718830	CV1397408	single nucleotide variant	NM_002454.3(MTRR):c.127A>G (p.Lys43Glu)	Methylcobalamin deficiency type cblE [RCV001982734]	uncertain significance	5	7870921	7870921	Human	1	name
8692029	CV141995	single nucleotide variant	NM_002454.3(MTRR):c.1155G>A (p.Leu385=)	Disorders of Intracellular Cobalamin Metabolism [RCV000330357]\|Methylcobalamin deficiency type cblE [RCV001513871]\|Methylcobalamin deficiency type cblE [RCV002498623]\|not provided [RCV004715719]\|not specified [RCV000126871]	benign\|likely benign	5	7889103	7889103	Human	2	name
8692033	CV141999	single nucleotide variant	NM_002454.3(MTRR):c.1464A>G (p.Val488=)	Disorders of Intracellular Cobalamin Metabolism [RCV001153940]\|Methylcobalamin deficiency type cblE [RCV000531884]\|not provided [RCV001812071]\|not specified [RCV000126876]	benign	5	7892820	7892820	Human	2	name
8692034	CV142000	single nucleotide variant	NM_002454.3(MTRR):c.1536C>T (p.Ser512=)	Disorders of Intracellular Cobalamin Metabolism [RCV001153942]\|Methylcobalamin deficiency type cblE [RCV000543920]\|not provided [RCV001812072]\|not specified [RCV000126877]	benign	5	7892892	7892892	Human	2	name
8692036	CV142002	single nucleotide variant	NM_002454.3(MTRR):c.1761T>C (p.Tyr587=)	Disorders of Intracellular Cobalamin Metabolism [RCV000391719]\|Methylcobalamin deficiency type cblE [RCV000532701]\|not provided [RCV001812073]\|not specified [RCV000126879]	benign\|uncertain significance	5	7896948	7896948	Human	2	name
8692038	CV142004	single nucleotide variant	NM_002454.3(MTRR):c.1875G>A (p.Val625=)	Disorders of Intracellular Cobalamin Metabolism [RCV000341345]\|Methylcobalamin deficiency type cblE [RCV001274264]\|not provided [RCV004717050]\|not specified [RCV000126881]	benign	5	7897170	7897170	Human	2	name
8692039	CV142005	single nucleotide variant	NM_002454.3(MTRR):c.1911G>A (p.Ala637=)	Disorders of Intracellular Cobalamin Metabolism [RCV000390684]\|Methylcobalamin deficiency type cblE [RCV001276259]\|not provided [RCV004715722]\|not specified [RCV000126882]	benign	5	7897206	7897206	Human	2	name
151883950	CV1428457	deletion	NM_002454.3(MTRR):c.815del (p.Pro272fs)	Methylcobalamin deficiency type cblE [RCV002000164]	pathogenic	5	7883188	7883188	Human	1	name
151833323	CV1446595	single nucleotide variant	NM_002454.3(MTRR):c.1488G>A (p.Leu496=)	Methylcobalamin deficiency type cblE [RCV002031017]	likely benign\|uncertain significance	5	7892844	7892844	Human	1	name
152091055	CV1525791	single nucleotide variant	NM_002454.3(MTRR):c.1923C>G (p.Leu641=)	Methylcobalamin deficiency type cblE [RCV002150593]	likely benign	5	7897218	7897218	Human	1	name
152169814	CV1529368	single nucleotide variant	NM_002454.3(MTRR):c.1074G>A (p.Gln358=)	Methylcobalamin deficiency type cblE [RCV002161566]	likely benign	5	7886631	7886631	Human	1	name
152107749	CV1529895	single nucleotide variant	NM_002454.3(MTRR):c.1590C>T (p.Phe530=)	Methylcobalamin deficiency type cblE [RCV002196376]	likely benign	5	7895766	7895766	Human	1	name
152052732	CV1531773	single nucleotide variant	NM_002454.3(MTRR):c.1815A>G (p.Leu605=)	Methylcobalamin deficiency type cblE [RCV002072582]	likely benign	5	7897110	7897110	Human	1	name
152111524	CV1537180	single nucleotide variant	NM_002454.3(MTRR):c.1395G>A (p.Lys465=)	Methylcobalamin deficiency type cblE [RCV002215558]	likely benign	5	7892751	7892751	Human	1	name
152032636	CV1537819	single nucleotide variant	NM_002454.3(MTRR):c.1221A>G (p.Lys407=)	Methylcobalamin deficiency type cblE [RCV002186934]	likely benign	5	7889169	7889169	Human	1	name
152118105	CV1540300	insertion	NM_002454.3(MTRR):c.904-20_904-19insTTC	Methylcobalamin deficiency type cblE [RCV002097775]	likely benign	5	7885681	7885682	Human	1	name
152080082	CV1550072	single nucleotide variant	NM_002454.3(MTRR):c.1992T>C (p.Leu664=)	Methylcobalamin deficiency type cblE [RCV002192911]	likely benign	5	7899953	7899953	Human	1	name
152160585	CV1555123	single nucleotide variant	NM_002454.3(MTRR):c.1854G>A (p.Glu618=)	Methylcobalamin deficiency type cblE [RCV002103721]	likely benign	5	7897149	7897149	Human	1	name
152151845	CV1559756	single nucleotide variant	NM_002454.3(MTRR):c.1041A>C (p.Ala347=)	Methylcobalamin deficiency type cblE [RCV002220939]	likely benign	5	7885838	7885838	Human	1	name
152139145	CV1563611	single nucleotide variant	NM_002454.3(MTRR):c.1929G>A (p.Glu643=)	Methylcobalamin deficiency type cblE [RCV002200349]	likely benign	5	7897224	7897224	Human	1	name
152090050	CV1580758	single nucleotide variant	NM_002454.3(MTRR):c.1317T>C (p.Ser439=)	Methylcobalamin deficiency type cblE [RCV002094043]	likely benign	5	7889265	7889265	Human	1	name
152170386	CV1592407	single nucleotide variant	NM_002454.3(MTRR):c.2001A>T (p.Ile667=)	Methylcobalamin deficiency type cblE [RCV002161755]	likely benign	5	7899962	7899962	Human	1	name
152093503	CV1598723	single nucleotide variant	NM_002454.3(MTRR):c.1290T>C (p.Ala430=)	Methylcobalamin deficiency type cblE [RCV002172144]	likely benign	5	7889238	7889238	Human	1	name
152096974	CV1599836	single nucleotide variant	NM_002454.3(MTRR):c.1686C>T (p.Leu562=)	Methylcobalamin deficiency type cblE [RCV002151323]	likely benign	5	7896873	7896873	Human	1	name
152099625	CV1606583	single nucleotide variant	NM_002454.3(MTRR):c.1986T>C (p.Asp662=)	Methylcobalamin deficiency type cblE [RCV002195377]	likely benign	5	7899947	7899947	Human	1	name
152140009	CV1613778	single nucleotide variant	NM_002454.3(MTRR):c.1212G>T (p.Leu404=)	Methylcobalamin deficiency type cblE [RCV002084032]	likely benign	5	7889160	7889160	Human	1	name
152104635	CV1614536	single nucleotide variant	NM_002454.3(MTRR):c.1431T>G (p.Ser477=)	Methylcobalamin deficiency type cblE [RCV002079433]	likely benign	5	7892787	7892787	Human	1	name
152165745	CV1618003	single nucleotide variant	NM_002454.3(MTRR):c.1599A>G (p.Pro533=)	Methylcobalamin deficiency type cblE [RCV002204306]	likely benign	5	7895775	7895775	Human	1	name
152079051	CV1627341	single nucleotide variant	NM_002454.3(MTRR):c.1959A>G (p.Ala653=)	Methylcobalamin deficiency type cblE [RCV002112499]	likely benign	5	7899920	7899920	Human	1	name
152139829	CV1628670	single nucleotide variant	NM_002454.3(MTRR):c.1527T>C (p.His509=)	Methylcobalamin deficiency type cblE [RCV002100618]	likely benign	5	7892883	7892883	Human	1	name
152036041	CV1636173	single nucleotide variant	NM_002454.3(MTRR):c.1614C>T (p.Ile538=)	Methylcobalamin deficiency type cblE [RCV002106995]	likely benign	5	7895790	7895790	Human	1	name
152175022	CV1637489	single nucleotide variant	NM_002454.3(MTRR):c.1546C>T (p.Leu516=)	Methylcobalamin deficiency type cblE [RCV002144641]	likely benign	5	7892902	7892902	Human	1	name
152167883	CV1644898	single nucleotide variant	NM_002454.3(MTRR):c.2088T>C (p.Ile696=)	Methylcobalamin deficiency type cblE [RCV002142271]	likely benign	5	7900049	7900049	Human	1	name
152134942	CV1646807	single nucleotide variant	NM_002454.3(MTRR):c.1989C>T (p.Ala663=)	Methylcobalamin deficiency type cblE [RCV002137413]	likely benign	5	7899950	7899950	Human	1	name
152091511	CV1646889	single nucleotide variant	NM_002454.3(MTRR):c.1764A>T (p.Leu588=)	Methylcobalamin deficiency type cblE [RCV002150651]	likely benign	5	7896951	7896951	Human	1	name
152143758	CV1651542	single nucleotide variant	NM_002454.3(MTRR):c.1749G>A (p.Lys583=)	Methylcobalamin deficiency type cblE [RCV002138506]	likely benign	5	7896936	7896936	Human	1	name
152119477	CV1662506	single nucleotide variant	NM_002454.3(MTRR):c.1041A>G (p.Ala347=)	Methylcobalamin deficiency type cblE [RCV002154072]	likely benign	5	7885838	7885838	Human	1	name
155942562	CV1869044	single nucleotide variant	NM_002454.3(MTRR):c.106C>T (p.His36Tyr)	Methylcobalamin deficiency type cblE [RCV003073638]	uncertain significance	5	7870900	7870900	Human	1	name
156323273	CV1870878	single nucleotide variant	NM_002454.3(MTRR):c.253T>G (p.Phe85Val)	Methylcobalamin deficiency type cblE [RCV003063220]	uncertain significance	5	7873496	7873496	Human	1	name
156407825	CV1873033	single nucleotide variant	NM_002454.3(MTRR):c.1071C>T (p.Pro357=)	Methylcobalamin deficiency type cblE [RCV003071029]	likely benign	5	7886628	7886628	Human	1	name
156435379	CV1940738	single nucleotide variant	NM_002454.3(MTRR):c.1779C>G (p.Leu593=)	Methylcobalamin deficiency type cblE [RCV003104841]	likely benign	5	7897074	7897074	Human	1	name
156448308	CV1946478	single nucleotide variant	NM_002454.3(MTRR):c.1575A>T (p.Arg525=)	Methylcobalamin deficiency type cblE [RCV003119867]	likely benign	5	7895751	7895751	Human	1	name
156225957	CV1962559	single nucleotide variant	NM_002454.3(MTRR):c.1788C>T (p.Phe596=)	Methylcobalamin deficiency type cblE [RCV002596629]	likely benign	5	7897083	7897083	Human	1	name
156320342	CV1966059	duplication	NM_002454.3(MTRR):c.495dup (p.Ala166fs)	Methylcobalamin deficiency type cblE [RCV002600189]	pathogenic	5	7878036	7878037	Human	1	name
156312398	CV1969780	single nucleotide variant	NM_002454.3(MTRR):c.1863A>G (p.Pro621=)	Methylcobalamin deficiency type cblE [RCV002578766]	likely benign	5	7897158	7897158	Human	1	name
156207977	CV2000758	single nucleotide variant	NM_002454.3(MTRR):c.1608C>T (p.Pro536=)	Methylcobalamin deficiency type cblE [RCV002666737]	likely benign	5	7895784	7895784	Human	1	name
10056259	CV200104	single nucleotide variant	NM_002454.3(MTRR):c.1653G>A (p.Pro551=)	Disorders of Intracellular Cobalamin Metabolism [RCV000347256]\|Methylcobalamin deficiency type cblE [RCV000551951]\|not provided [RCV001812181]\|not specified [RCV000186040]	benign\|uncertain significance	5	7895829	7895829	Human	2	name
156132568	CV2036634	single nucleotide variant	NM_002454.3(MTRR):c.1350C>T (p.Pro450=)	Methylcobalamin deficiency type cblE [RCV002786229]	likely benign	5	7891394	7891394	Human	1	name
155997552	CV2045343	single nucleotide variant	NM_002454.3(MTRR):c.1314C>T (p.Leu438=)	Methylcobalamin deficiency type cblE [RCV002756038]	likely benign	5	7889262	7889262	Human	1	name
156120530	CV2052293	single nucleotide variant	NM_002454.3(MTRR):c.1182C>T (p.Asp394=)	Methylcobalamin deficiency type cblE [RCV002825281]	likely benign	5	7889130	7889130	Human	1	name
156002119	CV2057504	single nucleotide variant	NM_002454.3(MTRR):c.1473C>T (p.Gly491=)	Methylcobalamin deficiency type cblE [RCV002819704]	likely benign	5	7892829	7892829	Human	1	name
156381965	CV2060878	deletion	NM_002454.3(MTRR):c.901del (p.Ser301fs)	Methylcobalamin deficiency type cblE [RCV002815149]	pathogenic	5	7883273	7883273	Human	1	name
155946119	CV2072642	single nucleotide variant	NM_002454.3(MTRR):c.2031A>C (p.Leu677=)	Methylcobalamin deficiency type cblE [RCV002862075]	likely benign	5	7899992	7899992	Human	1	name
156132778	CV2073077	single nucleotide variant	NM_002454.3(MTRR):c.1581A>G (p.Thr527=)	Methylcobalamin deficiency type cblE [RCV002825733]	likely benign	5	7895757	7895757	Human	1	name
156294166	CV2073385	single nucleotide variant	NM_002454.3(MTRR):c.1356A>G (p.Pro452=)	Methylcobalamin deficiency type cblE [RCV002833326]	likely benign	5	7891400	7891400	Human	1	name
156105934	CV2089059	single nucleotide variant	NM_002454.3(MTRR):c.1272G>A (p.Leu424=)	Methylcobalamin deficiency type cblE [RCV002848257]	likely benign	5	7889220	7889220	Human	1	name
156029294	CV2097022	single nucleotide variant	NM_002454.3(MTRR):c.1962G>A (p.Lys654=)	Methylcobalamin deficiency type cblE [RCV002885329]	likely benign	5	7899923	7899923	Human	1	name
156029917	CV2105456	single nucleotide variant	NM_002454.3(MTRR):c.1029G>A (p.Leu343=)	Methylcobalamin deficiency type cblE [RCV002910019]	likely benign	5	7885826	7885826	Human	1	name
156219950	CV2107258	single nucleotide variant	NM_002454.3(MTRR):c.120A>C (p.Glu40Asp)	Methylcobalamin deficiency type cblE [RCV002918521]	uncertain significance	5	7870914	7870914	Human	1	name
156038395	CV2121198	single nucleotide variant	NM_002454.3(MTRR):c.1620C>T (p.Ile540=)	Methylcobalamin deficiency type cblE [RCV002923813]	likely benign	5	7895796	7895796	Human	1	name
156106853	CV2139944	single nucleotide variant	NM_002454.3(MTRR):c.1804T>C (p.Leu602=)	Methylcobalamin deficiency type cblE [RCV003002428]	likely benign	5	7897099	7897099	Human	1	name
156315586	CV2161333	deletion	NM_002454.3(MTRR):c.754del (p.Val252fs)	Methylcobalamin deficiency type cblE [RCV003046283]	pathogenic	5	7878295	7878295	Human	1	name
156359619	CV2162368	single nucleotide variant	NM_002454.3(MTRR):c.1971C>T (p.Ala657=)	Methylcobalamin deficiency type cblE [RCV003031468]	likely benign	5	7899932	7899932	Human	1	name
156309252	CV2163899	single nucleotide variant	NM_002454.3(MTRR):c.1596A>G (p.Leu532=)	Methylcobalamin deficiency type cblE [RCV003045936]	likely benign	5	7895772	7895772	Human	1	name
156340098	CV2179733	single nucleotide variant	NM_002454.3(MTRR):c.1581A>T (p.Thr527=)	Methylcobalamin deficiency type cblE [RCV003030237]	likely benign	5	7895757	7895757	Human	1	name
156200535	CV2182805	single nucleotide variant	NM_002454.3(MTRR):c.2047C>T (p.Leu683=)	Methylcobalamin deficiency type cblE [RCV003024434]	likely benign	5	7900008	7900008	Human	1	name
156170791	CV2185008	single nucleotide variant	NM_002454.3(MTRR):c.1674T>C (p.His558=)	Methylcobalamin deficiency type cblE [RCV003057215]	likely benign	5	7895850	7895850	Human	1	name
155926471	CV2230630	single nucleotide variant	NM_002454.3(MTRR):c.101A>T (p.Asp34Val)	Inborn genetic diseases [RCV002728162]	uncertain significance	5	7870895	7870895	Human	1	name
401777816	CV2718348	single nucleotide variant	NM_002454.3(MTRR):c.286C>G (p.Leu96Val)	Inborn genetic diseases [RCV003263665]	uncertain significance	5	7875260	7875260	Human	1	name
401941643	CV2837876	single nucleotide variant	NM_002454.3(MTRR):c.245C>T (p.Pro82Leu)	Methylcobalamin deficiency type cblE [RCV004783066]\|Neural tube defects, folate-sensitive [RCV003461984]	likely pathogenic	5	7873488	7873488	Human	2	name
401946513	CV2837877	deletion	NM_002454.3(MTRR):c.358del (p.Ala120fs)	Neural tube defects, folate-sensitive [RCV003470268]	likely pathogenic	5	7875332	7875332	Human	1	name
401941645	CV2837880	duplication	NM_002454.3(MTRR):c.916dup (p.Ser306fs)	Neural tube defects, folate-sensitive [RCV003461986]	likely pathogenic	5	7885709	7885710	Human	1	name
401941646	CV2837882	single nucleotide variant	NM_002454.3(MTRR):c.118G>T (p.Glu40Ter)	Methylcobalamin deficiency type cblE [RCV005036814]\|Neural tube defects, folate-sensitive [RCV003461987]	likely pathogenic	5	7870912	7870912	Human	2	name
401941648	CV2837885	duplication	NM_002454.3(MTRR):c.324dup (p.Lys109fs)	Neural tube defects, folate-sensitive [RCV003461989]	likely pathogenic	5	7875292	7875293	Human	1	name
401946529	CV2837894	duplication	NM_002454.3(MTRR):c.701dup (p.Leu235fs)	Methylcobalamin deficiency type cblE [RCV005100186]\|Neural tube defects, folate-sensitive [RCV003470274]	pathogenic\|likely pathogenic	5	7878238	7878239	Human	2	name
401942667	CV2837898	deletion	NM_002454.3(MTRR):c.835del (p.Ser279fs)	Neural tube defects, folate-sensitive [RCV003463067]	likely pathogenic	5	7883207	7883207	Human	1	name
402489853	CV2863440	single nucleotide variant	NM_002454.3(MTRR):c.1428G>A (p.Leu476=)	Methylcobalamin deficiency type cblE [RCV003507516]	likely benign	5	7892784	7892784	Human	1	name
402495232	CV2870485	single nucleotide variant	NM_002454.3(MTRR):c.1140T>C (p.Pro380=)	Methylcobalamin deficiency type cblE [RCV003508106]	likely benign	5	7886697	7886697	Human	1	name
402501085	CV2890176	single nucleotide variant	NM_002454.3(MTRR):c.1560A>C (p.Ile520=)	Methylcobalamin deficiency type cblE [RCV003508752]	likely benign	5	7895736	7895736	Human	1	name
402485454	CV2904641	single nucleotide variant	NM_002454.3(MTRR):c.2029C>T (p.Leu677=)	Methylcobalamin deficiency type cblE [RCV003506931]	likely benign	5	7899990	7899990	Human	1	name
402486772	CV2916612	single nucleotide variant	NM_002454.3(MTRR):c.1077T>C (p.His359=)	Methylcobalamin deficiency type cblE [RCV003507069]	likely benign	5	7886634	7886634	Human	1	name
402491644	CV2925334	single nucleotide variant	NM_002454.3(MTRR):c.1668A>G (p.Leu556=)	Methylcobalamin deficiency type cblE [RCV003507723]	likely benign	5	7895844	7895844	Human	1	name
402493602	CV2929966	single nucleotide variant	NM_002454.3(MTRR):c.1026T>G (p.Leu342=)	Methylcobalamin deficiency type cblE [RCV003507913]	likely benign	5	7885823	7885823	Human	1	name
402492412	CV2931774	single nucleotide variant	NM_002454.3(MTRR):c.1644C>T (p.Gly548=)	Methylcobalamin deficiency type cblE [RCV003507781]	likely benign	5	7895820	7895820	Human	1	name
405130283	CV2953289	single nucleotide variant	NM_002454.3(MTRR):c.1524C>T (p.Ser508=)	Methylcobalamin deficiency type cblE [RCV003618204]	likely benign	5	7892880	7892880	Human	1	name
405131045	CV2955469	single nucleotide variant	NM_002454.3(MTRR):c.1668A>C (p.Leu556=)	Methylcobalamin deficiency type cblE [RCV003618284]	likely benign	5	7895844	7895844	Human	1	name
405131185	CV2973946	single nucleotide variant	NM_002454.3(MTRR):c.1824C>G (p.Ser608=)	Methylcobalamin deficiency type cblE [RCV003618323]	likely benign	5	7897119	7897119	Human	1	name
405131419	CV2974777	single nucleotide variant	NM_002454.3(MTRR):c.1113C>T (p.Thr371=)	Methylcobalamin deficiency type cblE [RCV003618348]	likely benign	5	7886670	7886670	Human	1	name
405131616	CV2975006	single nucleotide variant	NM_002454.3(MTRR):c.1032A>G (p.Lys344=)	Methylcobalamin deficiency type cblE [RCV003618369]	likely benign	5	7885829	7885829	Human	1	name
405132795	CV2977006	single nucleotide variant	NM_002454.3(MTRR):c.2088T>A (p.Ile696=)	Methylcobalamin deficiency type cblE [RCV003618471]	likely benign	5	7900049	7900049	Human	1	name
405133795	CV2986433	single nucleotide variant	NM_002454.3(MTRR):c.1983T>C (p.His661=)	Methylcobalamin deficiency type cblE [RCV003618600]	likely benign	5	7899944	7899944	Human	1	name
405135357	CV2999028	single nucleotide variant	NM_002454.3(MTRR):c.2079T>G (p.Leu693=)	Methylcobalamin deficiency type cblE [RCV003618734]	likely benign	5	7900040	7900040	Human	1	name
405135377	CV2999063	single nucleotide variant	NM_002454.3(MTRR):c.1887C>T (p.Ile629=)	Methylcobalamin deficiency type cblE [RCV003618736]	likely benign	5	7897182	7897182	Human	1	name
405123474	CV3004196	single nucleotide variant	NM_002454.3(MTRR):c.1728G>A (p.Leu576=)	Methylcobalamin deficiency type cblE [RCV003617354]	likely benign	5	7896915	7896915	Human	1	name
11658854	CV300466	single nucleotide variant	NM_002454.3(MTRR):c.1248T>C (p.Phe416=)	Disorders of Intracellular Cobalamin Metabolism [RCV000352544]\|Methylcobalamin deficiency type cblE [RCV001465590]	likely benign\|uncertain significance	5	7889196	7889196	Human	2	name
405123935	CV3005303	single nucleotide variant	NM_002454.3(MTRR):c.1479G>A (p.Leu493=)	Methylcobalamin deficiency type cblE [RCV003617410]	likely benign	5	7892835	7892835	Human	1	name
405123572	CV3007944	single nucleotide variant	NM_002454.3(MTRR):c.1386C>T (p.His462=)	Methylcobalamin deficiency type cblE [RCV003617366]	likely benign	5	7892742	7892742	Human	1	name
405123751	CV3008463	single nucleotide variant	NM_002454.3(MTRR):c.1632T>C (p.Gly544=)	Methylcobalamin deficiency type cblE [RCV003617388]	likely benign	5	7895808	7895808	Human	1	name
405124031	CV3012685	single nucleotide variant	NM_002454.3(MTRR):c.1920C>T (p.Leu640=)	Methylcobalamin deficiency type cblE [RCV003617422]	likely benign	5	7897215	7897215	Human	1	name
405124904	CV3017599	single nucleotide variant	NM_002454.3(MTRR):c.1251A>C (p.Val417=)	Methylcobalamin deficiency type cblE [RCV003617524]	likely benign	5	7889199	7889199	Human	1	name
405125163	CV3021759	single nucleotide variant	NM_002454.3(MTRR):c.2037A>G (p.Ala679=)	Methylcobalamin deficiency type cblE [RCV003617554]	likely benign	5	7899998	7899998	Human	1	name
405125260	CV3028659	single nucleotide variant	NM_002454.3(MTRR):c.1884C>T (p.Asn628=)	Methylcobalamin deficiency type cblE [RCV003617565]	likely benign	5	7897179	7897179	Human	1	name
405125280	CV3028702	single nucleotide variant	NM_002454.3(MTRR):c.132T>G (p.Tyr44Ter)	Methylcobalamin deficiency type cblE [RCV003617567]	pathogenic	5	7873375	7873375	Human	1	name
405126060	CV3040892	single nucleotide variant	NM_002454.3(MTRR):c.1506G>A (p.Gln502=)	Methylcobalamin deficiency type cblE [RCV003617681]	likely benign	5	7892862	7892862	Human	1	name
11605620	CV304681	single nucleotide variant	NM_002454.3(MTRR):c.208C>T (p.Arg70Cys)	Disorders of Intracellular Cobalamin Metabolism [RCV000322148]\|Inborn genetic diseases [RCV003168548]\|Methylcobalamin deficiency type cblE [RCV000811882]	uncertain significance	5	7873451	7873451	Human	3	name
405136479	CV3056493	single nucleotide variant	NM_002454.3(MTRR):c.1545C>T (p.Ala515=)	Methylcobalamin deficiency type cblE [RCV003618869]	likely benign	5	7892901	7892901	Human	1	name
405137392	CV3061733	single nucleotide variant	NM_002454.3(MTRR):c.2049G>C (p.Leu683=)	Methylcobalamin deficiency type cblE [RCV003618954]	likely benign	5	7900010	7900010	Human	1	name
405207589	CV3120506	single nucleotide variant	NM_002454.3(MTRR):c.132T>A (p.Tyr44Ter)	Methylcobalamin deficiency type cblE [RCV003822840]	pathogenic	5	7873375	7873375	Human	1	name
405092745	CV3134591	single nucleotide variant	NM_002454.3(MTRR):c.2037A>C (p.Ala679=)	Methylcobalamin deficiency type cblE [RCV003834937]	likely benign	5	7899998	7899998	Human	1	name
402516693	CV3135863	single nucleotide variant	NM_002454.3(MTRR):c.1866A>G (p.Ala622=)	Methylcobalamin deficiency type cblE [RCV003824489]	likely benign	5	7897161	7897161	Human	1	name
405254058	CV3174956	single nucleotide variant	NM_002454.3(MTRR):c.1878A>G (p.Gln626=)	Methylcobalamin deficiency type cblE [RCV003871408]	likely benign	5	7897173	7897173	Human	1	name
405255294	CV3176129	single nucleotide variant	NM_002454.3(MTRR):c.1923C>T (p.Leu641=)	Methylcobalamin deficiency type cblE [RCV003872213]	likely benign	5	7897218	7897218	Human	1	name
407476299	CV3457699	single nucleotide variant	NM_002454.3(MTRR):c.124G>A (p.Asp42Asn)	Inborn genetic diseases [RCV004638552]	uncertain significance	5	7870918	7870918	Human	1	name
408388298	CV3527449	single nucleotide variant	NM_002454.3(MTRR):c.239C>G (p.Thr80Arg)	Inborn genetic diseases [RCV004953760]\|not provided [RCV004773752]	uncertain significance	5	7873482	7873482	Human	1	name
597664060	CV3561344	single nucleotide variant	NM_002454.3(MTRR):c.179C>T (p.Thr60Met)	Inborn genetic diseases [RCV004947241]	uncertain significance	5	7873422	7873422	Human	1	name
597701267	CV3561346	single nucleotide variant	NM_002454.3(MTRR):c.200A>C (p.Asp67Ala)	Inborn genetic diseases [RCV004956675]	uncertain significance	5	7873443	7873443	Human	1	name
12842613	CV368259	single nucleotide variant	NM_002454.3(MTRR):c.1575A>C (p.Arg525=)	Methylcobalamin deficiency type cblE [RCV001501097]\|not specified [RCV000434740]	likely benign	5	7895751	7895751	Human	1	name
12835444	CV368260	single nucleotide variant	NM_002454.3(MTRR):c.1875G>T (p.Val625=)	Disorders of Intracellular Cobalamin Metabolism [RCV001154800]\|Methylcobalamin deficiency type cblE [RCV000967692]\|not specified [RCV000421671]	likely benign\|uncertain significance	5	7897170	7897170	Human	2	name
12844189	CV368547	single nucleotide variant	NM_002454.3(MTRR):c.1020C>T (p.Cys340=)	Disorders of Intracellular Cobalamin Metabolism [RCV001158135]\|Methylcobalamin deficiency type cblE [RCV000912640]\|not provided [RCV003437164]\|not specified [RCV000437546]	benign\|likely benign\|uncertain significance	5	7885817	7885817	Human	2	name
12834030	CV368548	single nucleotide variant	NM_002454.3(MTRR):c.1188T>C (p.Ala396=)	Methylcobalamin deficiency type cblE [RCV000942121]\|not specified [RCV000419626]	likely benign	5	7889136	7889136	Human	1	name
12847357	CV368554	single nucleotide variant	NM_002454.3(MTRR):c.1326C>T (p.Leu442=)	Disorders of Intracellular Cobalamin Metabolism [RCV001152666]\|MTRR-related disorder [RCV004752889]\|Methylcobalamin deficiency type cblE [RCV000865444]\|Methylcobalamin deficiency type cblE [RCV002488910]\|not provided [RCV003437174]\|not specified [RCV000443353]	benign\|likely benign	5	7889274	7889274	Human	3	name , trait , alternate_id
12834810	CV368558	single nucleotide variant	NM_002454.3(MTRR):c.1641C>T (p.Thr547=)	Methylcobalamin deficiency type cblE [RCV001407435]\|not specified [RCV000420589]	likely benign	5	7895817	7895817	Human	1	name
12833192	CV368726	single nucleotide variant	NM_002454.3(MTRR):c.1086G>A (p.Ala362=)	Methylcobalamin deficiency type cblE [RCV001835804]\|not provided [RCV000418048]	likely benign\|uncertain significance	5	7886643	7886643	Human	1	name
597736750	CV3718567	deletion	NM_002454.3(MTRR):c.339del (p.Lys113fs)	Methylcobalamin deficiency type cblE [RCV005037679]	likely pathogenic	5	7875311	7875311	Human	1	name
597681887	CV3718569	deletion	NM_002454.3(MTRR):c.593del (p.Asp198fs)	Methylcobalamin deficiency type cblE [RCV005045458]	likely pathogenic	5	7878135	7878135	Human	1	name
597900274	CV3771200	deletion	NM_002454.3(MTRR):c.631del (p.Ala211fs)	Methylcobalamin deficiency type cblE [RCV005112165]	pathogenic	5	7878173	7878173	Human	1	name
597940250	CV3772733	single nucleotide variant	NM_002454.3(MTRR):c.223G>T (p.Glu75Ter)	Methylcobalamin deficiency type cblE [RCV005118363]	pathogenic	5	7873466	7873466	Human	1	name
597944446	CV3776597	single nucleotide variant	NM_002454.3(MTRR):c.1842T>G (p.Pro614=)	Methylcobalamin deficiency type cblE [RCV005119453]	likely benign	5	7897137	7897137	Human	1	name
597934764	CV3777105	single nucleotide variant	NM_002454.3(MTRR):c.1515A>T (p.Ile505=)	Methylcobalamin deficiency type cblE [RCV005117264]	likely benign	5	7892871	7892871	Human	1	name
597961896	CV3795301	single nucleotide variant	NM_002454.3(MTRR):c.2007C>T (p.Ser669=)	Methylcobalamin deficiency type cblE [RCV005138993]	likely benign	5	7899968	7899968	Human	1	name
597957421	CV3800515	single nucleotide variant	NM_002454.3(MTRR):c.103C>T (p.Leu35Phe)	Methylcobalamin deficiency type cblE [RCV005137607]	uncertain significance	5	7870897	7870897	Human	1	name
597890902	CV3805033	single nucleotide variant	NM_002454.3(MTRR):c.1161C>T (p.Ala387=)	Methylcobalamin deficiency type cblE [RCV005151295]	likely benign	5	7889109	7889109	Human	1	name
597966923	CV3823732	single nucleotide variant	NM_002454.3(MTRR):c.1842T>C (p.Pro614=)	Methylcobalamin deficiency type cblE [RCV005165152]	likely benign	5	7897137	7897137	Human	1	name
598122210	CV3884268	single nucleotide variant	NM_002454.3(MTRR):c.125A>G (p.Asp42Gly)	not specified [RCV005236958]	uncertain significance	5	7870919	7870919	Human		name
598228432	CV3986521	single nucleotide variant	NM_002454.3(MTRR):c.230A>G (p.Gln77Arg)	Inborn genetic diseases [RCV005380787]	uncertain significance	5	7873473	7873473	Human	1	name
13469436	CV455965	single nucleotide variant	NM_002454.3(MTRR):c.209G>A (p.Arg70His)	Disorders of Intracellular Cobalamin Metabolism [RCV001152553]\|Inborn genetic diseases [RCV004024021]\|Methylcobalamin deficiency type cblE [RCV000545313]	uncertain significance	5	7873452	7873452	Human	3	name
13536089	CV500987	single nucleotide variant	NM_002454.3(MTRR):c.2052C>T (p.Ala684=)	Methylcobalamin deficiency type cblE [RCV002063925]\|not specified [RCV000608491]	likely benign	5	7900013	7900013	Human	1	name
15190889	CV721540	single nucleotide variant	NM_002454.3(MTRR):c.1890G>A (p.Gln630=)	Methylcobalamin deficiency type cblE [RCV000888226]	likely benign	5	7897185	7897185	Human	1	name
15187356	CV735210	single nucleotide variant	NM_002454.3(MTRR):c.1450C>T (p.Leu484=)	not provided [RCV000909067]	likely benign	5	7892806	7892806	Human		name
15147840	CV735211	single nucleotide variant	NM_002454.3(MTRR):c.1566C>A (p.Ile522=)	Methylcobalamin deficiency type cblE [RCV001429614]	likely benign	5	7895742	7895742	Human	1	name
15180055	CV735213	single nucleotide variant	NM_002454.3(MTRR):c.2073C>T (p.Arg691=)	MTRR-related disorder [RCV003958251]\|Methylcobalamin deficiency type cblE [RCV000907261]	likely benign	5	7900034	7900034	Human	1	name , trait , alternate_id
15173654	CV765219	single nucleotide variant	NM_002454.3(MTRR):c.1080A>C (p.Ile360=)	Methylcobalamin deficiency type cblE [RCV001455612]	likely benign	5	7886637	7886637	Human	1	name
15174243	CV765220	single nucleotide variant	NM_002454.3(MTRR):c.1089A>G (p.Gly363=)	Methylcobalamin deficiency type cblE [RCV001462261]	likely benign	5	7886646	7886646	Human	1	name
15118367	CV765221	single nucleotide variant	NM_002454.3(MTRR):c.1233C>G (p.Ala411=)	Methylcobalamin deficiency type cblE [RCV002066187]	likely benign	5	7889181	7889181	Human	1	name
15190000	CV765222	single nucleotide variant	NM_002454.3(MTRR):c.1482C>T (p.Ala494=)	Methylcobalamin deficiency type cblE [RCV001500204]	likely benign	5	7892838	7892838	Human	1	name
15130460	CV782340	single nucleotide variant	NM_002454.3(MTRR):c.1131A>C (p.Arg377=)	Methylcobalamin deficiency type cblE [RCV000981048]	likely benign	5	7886688	7886688	Human	1	name
15142540	CV782343	single nucleotide variant	NM_002454.3(MTRR):c.1149A>G (p.Ala383=)	Methylcobalamin deficiency type cblE [RCV000983176]	likely benign	5	7889097	7889097	Human	1	name
15135509	CV782344	single nucleotide variant	NM_002454.3(MTRR):c.1209G>A (p.Glu403=)	Methylcobalamin deficiency type cblE [RCV001417139]	likely benign	5	7889157	7889157	Human	1	name
15108552	CV782347	single nucleotide variant	NM_002454.3(MTRR):c.2016T>C (p.Val672=)	Methylcobalamin deficiency type cblE [RCV000977053]	likely benign	5	7899977	7899977	Human	1	name
15128978	CV782348	single nucleotide variant	NM_002454.3(MTRR):c.2031A>G (p.Leu677=)	Methylcobalamin deficiency type cblE [RCV001426628]	likely benign	5	7899992	7899992	Human	1	name
21069059	CV795723	deletion	NM_002454.3(MTRR):c.324del (p.Lys109fs)	Methylcobalamin deficiency type cblE [RCV001066391]\|Neural tube defects, folate-sensitive [RCV003461302]\|not provided [RCV000998353]	pathogenic\|likely pathogenic	5	7875293	7875293	Human	2	name
28890782	CV894706	single nucleotide variant	NM_002454.3(MTRR):c.217G>T (p.Val73Phe)	Disorders of Intracellular Cobalamin Metabolism [RCV001152554]	uncertain significance	5	7873460	7873460	Human	1	name
28890787	CV894707	single nucleotide variant	NM_002454.3(MTRR):c.268C>T (p.Arg90Trp)	Disorders of Intracellular Cobalamin Metabolism [RCV001152556]\|Methylcobalamin deficiency type cblE [RCV002557291]	uncertain significance	5	7873511	7873511	Human	2	name
28891117	CV894750	single nucleotide variant	NM_002454.3(MTRR):c.1203A>G (p.Leu401=)	Disorders of Intracellular Cobalamin Metabolism [RCV001152665]\|Methylcobalamin deficiency type cblE [RCV002070857]	likely benign\|uncertain significance	5	7889151	7889151	Human	2	name
28894552	CV894751	single nucleotide variant	NM_002454.3(MTRR):c.1563C>T (p.Ser521=)	Disorders of Intracellular Cobalamin Metabolism [RCV001153943]\|Methylcobalamin deficiency type cblE [RCV001446211]	likely benign\|uncertain significance	5	7895739	7895739	Human	2	name
28896829	CV894754	single nucleotide variant	NM_002454.3(MTRR):c.1944T>C (p.Tyr648=)	Disorders of Intracellular Cobalamin Metabolism [RCV001154801]\|Methylcobalamin deficiency type cblE [RCV001494309]	likely benign\|uncertain significance	5	7897239	7897239	Human	2	name
38480064	CV932958	deletion	NM_002454.3(MTRR):c.741del (p.Glu248fs)	Methylcobalamin deficiency type cblE [RCV001206236]\|Neural tube defects, folate-sensitive [RCV003462692]	pathogenic\|likely pathogenic	5	7878283	7878283	Human	2	name
38496361	CV944660	deletion	NM_002454.3(MTRR):c.734del (p.Leu245fs)	Methylcobalamin deficiency type cblE [RCV001226344]	pathogenic	5	7878274	7878274	Human	1	name
38496290	CV944661	deletion	NM_002454.3(MTRR):c.740del (p.Pro247fs)	Methylcobalamin deficiency type cblE [RCV001226293]\|Neural tube defects, folate-sensitive [RCV003462774]	pathogenic\|likely pathogenic	5	7878278	7878278	Human	2	name
40906910	CV978207	single nucleotide variant	NM_002454.3(MTRR):c.220A>G (p.Lys74Glu)	Methylcobalamin deficiency type cblE [RCV001280370]	uncertain significance	5	7873463	7873463	Human	1	name
40906915	CV978216	single nucleotide variant	NM_002454.3(MTRR):c.1998A>G (p.Gln666=)	Methylcobalamin deficiency type cblE [RCV001280375]	likely benign\|uncertain significance	5	7899959	7899959	Human	1	name
126742306	CV1020124	single nucleotide variant	NM_002454.3(MTRR):c.485A>G (p.Glu162Gly)	Methylcobalamin deficiency type cblE [RCV001336469]	uncertain significance	5	7878027	7878027	Human	1	name
127268405	CV1060457	duplication	NM_002454.3(MTRR):c.1652dup (p.Phe552fs)	Methylcobalamin deficiency type cblE [RCV001382154]	pathogenic	5	7895824	7895825	Human	1	name
127328988	CV1137009	single nucleotide variant	NM_002454.3(MTRR):c.958A>G (p.Ser320Gly)	MTRR-related disorder [RCV003908744]\|Methylcobalamin deficiency type cblE [RCV001487130]	likely benign	5	7885755	7885755	Human	1	name , trait , alternate_id
150484181	CV1263123	deletion	NM_002454.3(MTRR):c.1328-109_1328-105del	not provided [RCV001686523]	benign	5	7891260	7891264	Human		name
151890845	CV1344246	single nucleotide variant	NM_002454.3(MTRR):c.865G>A (p.Ala289Thr)	Methylcobalamin deficiency type cblE [RCV001943156]	uncertain significance	5	7883239	7883239	Human	1	name
151845815	CV1353523	single nucleotide variant	NM_002454.3(MTRR):c.313T>G (p.Cys105Gly)	Methylcobalamin deficiency type cblE [RCV001957314]	uncertain significance	5	7875287	7875287	Human	1	name
151878819	CV1370168	single nucleotide variant	NM_002454.3(MTRR):c.692C>T (p.Ser231Leu)	Inborn genetic diseases [RCV002569293]\|Methylcobalamin deficiency type cblE [RCV001961379]\|not provided [RCV004763275]	uncertain significance	5	7878234	7878234	Human	2	name
151871472	CV1384257	single nucleotide variant	NM_002454.3(MTRR):c.953C>T (p.Pro318Leu)	Methylcobalamin deficiency type cblE [RCV001960483]	uncertain significance	5	7885750	7885750	Human	1	name
151887443	CV1386315	deletion	NM_002454.3(MTRR):c.1476del (p.Trp492fs)	Methylcobalamin deficiency type cblE [RCV001942388]	pathogenic	5	7892831	7892831	Human	1	name
151820540	CV1390840	single nucleotide variant	NM_002454.3(MTRR):c.449T>G (p.Leu150Arg)	Methylcobalamin deficiency type cblE [RCV001992725]	uncertain significance	5	7877991	7877991	Human	1	name
151846308	CV1405707	single nucleotide variant	NM_002454.3(MTRR):c.317A>G (p.Asn106Ser)	Methylcobalamin deficiency type cblE [RCV001903481]	uncertain significance	5	7875291	7875291	Human	1	name
151880753	CV1405983	single nucleotide variant	NM_002454.3(MTRR):c.527G>C (p.Arg176Thr)	Methylcobalamin deficiency type cblE [RCV001940994]	uncertain significance	5	7878069	7878069	Human	1	name
151739689	CV1412816	single nucleotide variant	NM_002454.3(MTRR):c.397G>C (p.Val133Leu)	Methylcobalamin deficiency type cblE [RCV001926345]	uncertain significance	5	7875371	7875371	Human	1	name
8692041	CV142007	single nucleotide variant	NM_002454.3(MTRR):c.524C>T (p.Ser175Leu)	Disorders of Intracellular Cobalamin Metabolism [RCV000405120]\|Gastrointestinal stromal tumor [RCV000144927]\|Methylcobalamin deficiency type cblE [RCV001274256]\|not provided [RCV004717051]\|not specified [RCV000126884]	benign\|likely benign\|uncertain significance	5	7878066	7878066	Human	4	name
8692043	CV142009	single nucleotide variant	NM_002454.3(MTRR):c.769T>A (p.Ser257Thr)	Disorders of Intracellular Cobalamin Metabolism [RCV000266246]\|Methylcobalamin deficiency type cblE [RCV000557291]\|not provided [RCV004715725]\|not specified [RCV000126886]	benign\|likely benign	5	7878311	7878311	Human	2	name
151797536	CV1424394	single nucleotide variant	NM_002454.3(MTRR):c.542A>G (p.Lys181Arg)	Inborn genetic diseases [RCV004046101]\|Methylcobalamin deficiency type cblE [RCV002047681]	uncertain significance	5	7878084	7878084	Human	2	name
151783087	CV1435056	single nucleotide variant	NM_002454.3(MTRR):c.735A>C (p.Leu245Phe)	Methylcobalamin deficiency type cblE [RCV001916059]	uncertain significance	5	7878277	7878277	Human	1	name
151782246	CV1439365	single nucleotide variant	NM_002454.3(MTRR):c.860A>G (p.Asn287Ser)	Methylcobalamin deficiency type cblE [RCV002009852]	uncertain significance	5	7883234	7883234	Human	1	name
151749526	CV1460599	single nucleotide variant	NM_002454.3(MTRR):c.589G>C (p.Asp197His)	Inborn genetic diseases [RCV002547959]\|Methylcobalamin deficiency type cblE [RCV001894188]	uncertain significance	5	7878131	7878131	Human	2	name
151807615	CV1477660	deletion	NM_002454.3(MTRR):c.1728del (p.Leu576fs)	Methylcobalamin deficiency type cblE [RCV001953506]	pathogenic	5	7896915	7896915	Human	1	name
151726298	CV1482253	single nucleotide variant	NM_002454.3(MTRR):c.703C>T (p.Leu235Phe)	Methylcobalamin deficiency type cblE [RCV002020820]	uncertain significance	5	7878245	7878245	Human	1	name
151876908	CV1484542	single nucleotide variant	NM_002454.3(MTRR):c.763C>T (p.Gln255Ter)	Methylcobalamin deficiency type cblE [RCV001982018]\|Methylcobalamin deficiency type cblE [RCV002503659]\|Neural tube defects, folate-sensitive [RCV003471078]	pathogenic\|likely pathogenic	5	7878305	7878305	Human	2	name
151769293	CV1486541	duplication	NM_002454.3(MTRR):c.1612dup (p.Ile538fs)	Methylcobalamin deficiency type cblE [RCV001914825]	pathogenic	5	7895786	7895787	Human	1	name
151711156	CV1497167	single nucleotide variant	NM_002454.3(MTRR):c.589G>A (p.Asp197Asn)	Methylcobalamin deficiency type cblE [RCV002001993]	uncertain significance	5	7878131	7878131	Human	1	name
151742259	CV1507368	single nucleotide variant	NM_002454.3(MTRR):c.350A>G (p.Glu117Gly)	Methylcobalamin deficiency type cblE [RCV001968257]	uncertain significance	5	7875324	7875324	Human	1	name
151812158	CV1510392	single nucleotide variant	NM_002454.3(MTRR):c.976A>G (p.Ser326Gly)	Methylcobalamin deficiency type cblE [RCV001918719]	uncertain significance	5	7885773	7885773	Human	1	name
152041928	CV1669934	single nucleotide variant	NM_002454.3(MTRR):c.793G>A (p.Val265Ile)	not provided [RCV002224836]	uncertain significance	5	7883167	7883167	Human		name
156152424	CV1875199	single nucleotide variant	NM_002454.3(MTRR):c.654T>G (p.Asn218Lys)	Methylcobalamin deficiency type cblE [RCV003056582]	uncertain significance	5	7878196	7878196	Human	1	name
156329240	CV1887591	single nucleotide variant	NM_002454.3(MTRR):c.496G>A (p.Ala166Thr)	Methylcobalamin deficiency type cblE [RCV003089689]	uncertain significance	5	7878038	7878038	Human	1	name
156410158	CV1888248	single nucleotide variant	NM_002454.3(MTRR):c.652A>G (p.Asn218Asp)	Methylcobalamin deficiency type cblE [RCV003071955]	uncertain significance	5	7878194	7878194	Human	1	name
156389334	CV1888492	single nucleotide variant	NM_002454.3(MTRR):c.496G>T (p.Ala166Ser)	Inborn genetic diseases [RCV004071677]\|Methylcobalamin deficiency type cblE [RCV003067851]	uncertain significance	5	7878038	7878038	Human	2	name
156193130	CV1901800	single nucleotide variant	NM_002454.3(MTRR):c.908C>T (p.Thr303Ile)	Inborn genetic diseases [RCV002595443]\|Methylcobalamin deficiency type cblE [RCV002588573]	uncertain significance	5	7885705	7885705	Human	2	name
156020692	CV1903012	single nucleotide variant	NM_002454.3(MTRR):c.304A>C (p.Thr102Pro)	Inborn genetic diseases [RCV004961030]\|Methylcobalamin deficiency type cblE [RCV003100180]	uncertain significance	5	7875278	7875278	Human	2	name
156135186	CV1914588	single nucleotide variant	NM_002454.3(MTRR):c.997C>T (p.Leu333Phe)	Methylcobalamin deficiency type cblE [RCV002623460]	uncertain significance	5	7885794	7885794	Human	1	name
156144761	CV1922867	single nucleotide variant	NM_002454.3(MTRR):c.538G>A (p.Val180Met)	Inborn genetic diseases [RCV004070646]\|Methylcobalamin deficiency type cblE [RCV002623790]	uncertain significance	5	7878080	7878080	Human	2	name
156393900	CV1934185	single nucleotide variant	NM_002454.3(MTRR):c.361C>T (p.Arg121Trp)	Inborn genetic diseases [RCV003368039]\|Methylcobalamin deficiency type cblE [RCV002654676]	uncertain significance	5	7875335	7875335	Human	2	name
156442498	CV1938727	single nucleotide variant	NM_002454.3(MTRR):c.850C>T (p.Leu284Phe)	Methylcobalamin deficiency type cblE [RCV003112843]	uncertain significance	5	7883224	7883224	Human	1	name
156361449	CV2003213	single nucleotide variant	NM_002454.3(MTRR):c.299A>G (p.Glu100Gly)	Methylcobalamin deficiency type cblE [RCV002676273]	uncertain significance	5	7875273	7875273	Human	1	name
156016247	CV2010282	single nucleotide variant	NM_002454.3(MTRR):c.935C>G (p.Ala312Gly)	Methylcobalamin deficiency type cblE [RCV002735156]	uncertain significance	5	7885732	7885732	Human	1	name
155998458	CV2074470	single nucleotide variant	NM_002454.3(MTRR):c.499C>G (p.Leu167Val)	Methylcobalamin deficiency type cblE [RCV002843293]	uncertain significance	5	7878041	7878041	Human	1	name
155980319	CV2082077	duplication	NM_002454.3(MTRR):c.1394dup (p.Leu466fs)	Methylcobalamin deficiency type cblE [RCV002863739]	pathogenic	5	7892747	7892748	Human	1	name
155979098	CV2093901	duplication	NM_002454.3(MTRR):c.920dup (p.Tyr307Ter)	Methylcobalamin deficiency type cblE [RCV002881842]	pathogenic	5	7885716	7885717	Human	1	name
156111684	CV2104417	single nucleotide variant	NM_002454.3(MTRR):c.943G>A (p.Val315Met)	Methylcobalamin deficiency type cblE [RCV002927459]	uncertain significance	5	7885740	7885740	Human	1	name
156021363	CV2105729	single nucleotide variant	NM_002454.3(MTRR):c.957C>G (p.Asn319Lys)	Methylcobalamin deficiency type cblE [RCV002923080]	uncertain significance	5	7885754	7885754	Human	1	name
155993382	CV2112780	single nucleotide variant	NM_002454.3(MTRR):c.794T>G (p.Val265Gly)	Methylcobalamin deficiency type cblE [RCV002947438]	uncertain significance	5	7883168	7883168	Human	1	name
156334266	CV2112980	single nucleotide variant	NM_002454.3(MTRR):c.652A>C (p.Asn218His)	Methylcobalamin deficiency type cblE [RCV002938538]	uncertain significance	5	7878194	7878194	Human	1	name
156156199	CV2150810	single nucleotide variant	NM_002454.3(MTRR):c.635T>C (p.Val212Ala)	Methylcobalamin deficiency type cblE [RCV003023026]	uncertain significance	5	7878177	7878177	Human	1	name
156129308	CV2155664	duplication	NM_002454.3(MTRR):c.1441dup (p.Thr481fs)	Methylcobalamin deficiency type cblE [RCV003003293]	pathogenic	5	7892795	7892796	Human	1	name
155984914	CV2159620	deletion	NM_002454.3(MTRR):c.1643del (p.Gly548fs)	Methylcobalamin deficiency type cblE [RCV003034051]	pathogenic	5	7895818	7895818	Human	1	name
156366350	CV2163520	single nucleotide variant	NM_002454.3(MTRR):c.829C>A (p.Pro277Thr)	Methylcobalamin deficiency type cblE [RCV003031907]	uncertain significance	5	7883203	7883203	Human	1	name
156000932	CV2168113	deletion	NM_002454.3(MTRR):c.1631del (p.Gly544fs)	Methylcobalamin deficiency type cblE [RCV003034770]	pathogenic	5	7895805	7895805	Human	1	name
156034691	CV2182420	deletion	NM_002454.3(MTRR):c.1953del (p.Asp652fs)	Methylcobalamin deficiency type cblE [RCV003036330]	uncertain significance	5	7899914	7899914	Human	1	name
156085477	CV2205663	single nucleotide variant	NM_002454.3(MTRR):c.643A>C (p.Asn215His)	Inborn genetic diseases [RCV002661042]	uncertain significance	5	7878185	7878185	Human	1	name
155925641	CV2207998	single nucleotide variant	NM_002454.3(MTRR):c.422C>T (p.Pro141Leu)	Inborn genetic diseases [RCV002683465]	uncertain significance	5	7877964	7877964	Human	1	name
155969337	CV2213316	single nucleotide variant	NM_002454.3(MTRR):c.490A>C (p.Ser164Arg)	Inborn genetic diseases [RCV002687360]	uncertain significance	5	7878032	7878032	Human	1	name
156205462	CV2311388	single nucleotide variant	NM_002454.3(MTRR):c.956A>G (p.Asn319Ser)	Inborn genetic diseases [RCV002893419]	uncertain significance	5	7885753	7885753	Human	1	name
243056168	CV2410394	single nucleotide variant	NM_002454.3(MTRR):c.362G>A (p.Arg121Gln)	Methylcobalamin deficiency type cblE [RCV003132704]	uncertain significance	5	7875336	7875336	Human	1	name
243052859	CV2418031	single nucleotide variant	NM_002454.3(MTRR):c.320G>A (p.Gly107Glu)	Methylcobalamin deficiency type cblE [RCV003153096]	uncertain significance	5	7875294	7875294	Human	1	name
401941640	CV2837873	duplication	NM_002454.3(MTRR):c.1672dup (p.His558fs)	Neural tube defects, folate-sensitive [RCV003461981]	likely pathogenic	5	7895847	7895848	Human	1	name
401941642	CV2837875	single nucleotide variant	NM_002454.3(MTRR):c.440G>A (p.Trp147Ter)	Neural tube defects, folate-sensitive [RCV003461983]	likely pathogenic	5	7877982	7877982	Human	1	name
401941647	CV2837884	single nucleotide variant	NM_002454.3(MTRR):c.596C>G (p.Ser199Ter)	Methylcobalamin deficiency type cblE [RCV005036815]\|Neural tube defects, folate-sensitive [RCV003461988]	likely pathogenic	5	7878138	7878138	Human	2	name
401941650	CV2837887	single nucleotide variant	NM_002454.3(MTRR):c.372T>G (p.Tyr124Ter)	Neural tube defects, folate-sensitive [RCV003461991]	likely pathogenic	5	7875346	7875346	Human	1	name
401941651	CV2837888	single nucleotide variant	NM_002454.3(MTRR):c.568C>T (p.Gln190Ter)	Neural tube defects, folate-sensitive [RCV003461992]	likely pathogenic	5	7878110	7878110	Human	1	name
401941652	CV2837889	single nucleotide variant	NM_002454.3(MTRR):c.524C>A (p.Ser175Ter)	Neural tube defects, folate-sensitive [RCV003461993]	likely pathogenic	5	7878066	7878066	Human	1	name
401941653	CV2837891	duplication	NM_002454.3(MTRR):c.1508dup (p.Asn504fs)	Neural tube defects, folate-sensitive [RCV003461994]	likely pathogenic	5	7892862	7892863	Human	1	name
401942663	CV2837899	deletion	NM_002454.3(MTRR):c.1241del (p.Ser414fs)	Neural tube defects, folate-sensitive [RCV003463068]	likely pathogenic	5	7889189	7889189	Human	1	name
401942659	CV2837900	deletion	NM_002454.3(MTRR):c.1072del (p.Gln358fs)	Neural tube defects, folate-sensitive [RCV003463069]	likely pathogenic	5	7886626	7886626	Human	1	name
402497747	CV2876865	single nucleotide variant	NM_002454.3(MTRR):c.441G>A (p.Trp147Ter)	Methylcobalamin deficiency type cblE [RCV003508399]	pathogenic	5	7877983	7877983	Human	1	name
402487691	CV2910692	duplication	NM_002454.3(MTRR):c.861dup (p.Asp288Ter)	Methylcobalamin deficiency type cblE [RCV003507172]	pathogenic	5	7883234	7883235	Human	1	name
11590143	CV298109	single nucleotide variant	NM_002454.3(MTRR):c.346C>A (p.Gln116Lys)	Disorders of Intracellular Cobalamin Metabolism [RCV000316476]\|Inborn genetic diseases [RCV004022005]\|Methylcobalamin deficiency type cblE [RCV001247404]\|not provided [RCV003311778]	likely benign\|uncertain significance	5	7875320	7875320	Human	3	name
11592345	CV298114	single nucleotide variant	NM_002454.3(MTRR):c.383A>G (p.His128Arg)	Disorders of Intracellular Cobalamin Metabolism [RCV000337918]\|Inborn genetic diseases [RCV004022006]\|Methylcobalamin deficiency type cblE [RCV001850873]	uncertain significance	5	7875357	7875357	Human	3	name
11582423	CV298186	single nucleotide variant	NM_002454.3(MTRR):c.997C>G (p.Leu333Val)	Disorders of Intracellular Cobalamin Metabolism [RCV000259869]\|Methylcobalamin deficiency type cblE [RCV001274259]\|not provided [RCV000440270]\|not specified [RCV000427790]	benign\|likely benign	5	7885794	7885794	Human	2	name
11595695	CV300403	single nucleotide variant	NM_002454.3(MTRR):c.371A>G (p.Tyr124Cys)	Disorders of Intracellular Cobalamin Metabolism [RCV000373506]	uncertain significance	5	7875345	7875345	Human	1	name
11650506	CV300452	single nucleotide variant	NM_002454.3(MTRR):c.487A>G (p.Ile163Val)	Disorders of Intracellular Cobalamin Metabolism [RCV000293426]\|Methylcobalamin deficiency type cblE [RCV001861264]	uncertain significance	5	7878029	7878029	Human	2	name
11603993	CV304722	single nucleotide variant	NM_002454.3(MTRR):c.869T>C (p.Ile290Thr)	Disorders of Intracellular Cobalamin Metabolism [RCV000304993]\|Inborn genetic diseases [RCV002520386]\|Methylcobalamin deficiency type cblE [RCV000642243]\|Methylcobalamin deficiency type cblE [RCV005044576]\|not provided [RCV001591019]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	5	7883243	7883243	Human	3	name
11608071	CV304976	single nucleotide variant	NM_002454.3(MTRR):c.505G>A (p.Val169Met)	Disorders of Intracellular Cobalamin Metabolism [RCV000350585]\|Methylcobalamin deficiency type cblE [RCV001245377]\|Methylcobalamin deficiency type cblE [RCV002487550]	uncertain significance	5	7878047	7878047	Human	2	name
11604567	CV304982	single nucleotide variant	NM_002454.3(MTRR):c.689G>A (p.Arg230His)	Disorders of Intracellular Cobalamin Metabolism [RCV000310859]	uncertain significance	5	7878231	7878231	Human	1	name
11608693	CV304985	single nucleotide variant	NM_002454.3(MTRR):c.739C>T (p.Pro247Ser)	Disorders of Intracellular Cobalamin Metabolism [RCV000358385]\|Inborn genetic diseases [RCV004955461]\|MTRR-related disorder [RCV003957826]\|Methylcobalamin deficiency type cblE [RCV000872621]\|Methylcobalamin deficiency type cblE [RCV002488786]	likely benign\|uncertain significance	5	7878281	7878281	Human	4	name , trait , alternate_id
405181998	CV3147529	single nucleotide variant	NM_002454.3(MTRR):c.467C>G (p.Ser156Ter)	Methylcobalamin deficiency type cblE [RCV003842431]	pathogenic	5	7878009	7878009	Human	1	name
402470193	CV3174833	deletion	NM_002454.3(MTRR):c.1474del (p.Trp492fs)	Methylcobalamin deficiency type cblE [RCV003873944]	pathogenic	5	7892830	7892830	Human	1	name
405653562	CV3378725	single nucleotide variant	NM_002454.3(MTRR):c.467C>T (p.Ser156Leu)	Inborn genetic diseases [RCV004510268]	uncertain significance	5	7878009	7878009	Human	1	name
405653550	CV3378730	single nucleotide variant	NM_002454.3(MTRR):c.486G>T (p.Glu162Asp)	Inborn genetic diseases [RCV004510273]	uncertain significance	5	7878028	7878028	Human	1	name
405873818	CV3398799	single nucleotide variant	NM_002454.3(MTRR):c.574G>T (p.Glu192Ter)	Neural tube defects, folate-sensitive [RCV004576279]	likely pathogenic	5	7878116	7878116	Human	1	name
407507457	CV3457700	single nucleotide variant	NM_002454.3(MTRR):c.733T>G (p.Leu245Val)	Inborn genetic diseases [RCV004646820]	uncertain significance	5	7878275	7878275	Human	1	name
407507461	CV3457701	single nucleotide variant	NM_002454.3(MTRR):c.764A>C (p.Gln255Pro)	Inborn genetic diseases [RCV004646821]	uncertain significance	5	7878306	7878306	Human	1	name
408380214	CV3512173	single nucleotide variant	NM_002454.3(MTRR):c.323G>A (p.Gly108Glu)	MTRR-related disorder [RCV004754030]	uncertain significance	5	7875297	7875297	Human		name , trait , alternate_id
408389086	CV3529212	single nucleotide variant	NM_002454.3(MTRR):c.370T>C (p.Tyr124His)	not provided [RCV004774034]	uncertain significance	5	7875344	7875344	Human		name
12842801	CV369939	single nucleotide variant	NM_002454.3(MTRR):c.446C>T (p.Ala149Val)	Methylcobalamin deficiency type cblE [RCV001081253]\|not provided [RCV000435077]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	5	7877988	7877988	Human	1	name
597681911	CV3718572	deletion	NM_002454.3(MTRR):c.1164del (p.Val389fs)	Methylcobalamin deficiency type cblE [RCV005045460]	likely pathogenic	5	7889111	7889111	Human	1	name
597873581	CV3805329	single nucleotide variant	NM_002454.3(MTRR):c.871A>C (p.Lys291Gln)	Methylcobalamin deficiency type cblE [RCV005148607]	uncertain significance	5	7883245	7883245	Human	1	name
597930729	CV3837611	single nucleotide variant	NM_002454.3(MTRR):c.773T>C (p.Leu258Pro)	Methylcobalamin deficiency type cblE [RCV005185771]	uncertain significance	5	7878315	7878315	Human	1	name
597946879	CV3841760	single nucleotide variant	NM_002454.3(MTRR):c.686C>G (p.Thr229Ser)	Methylcobalamin deficiency type cblE [RCV005189194]	uncertain significance	5	7878228	7878228	Human	1	name
598228416	CV3986524	single nucleotide variant	NM_002454.3(MTRR):c.727C>G (p.Pro243Ala)	Inborn genetic diseases [RCV005380790]	uncertain significance	5	7878269	7878269	Human	1	name
598228410	CV3986525	single nucleotide variant	NM_002454.3(MTRR):c.442C>T (p.Pro148Ser)	Inborn genetic diseases [RCV005380791]	uncertain significance	5	7877984	7877984	Human	1	name
13814895	CV565201	single nucleotide variant	NM_002454.3(MTRR):c.832A>G (p.Ile278Val)	Methylcobalamin deficiency type cblE [RCV000691198]	uncertain significance	5	7883206	7883206	Human	1	name
14394249	CV609599	single nucleotide variant	NM_002454.3(MTRR):c.607G>T (p.Asp203Tyr)	not provided [RCV000757494]	uncertain significance	5	7878149	7878149	Human		name
14716237	CV634034	single nucleotide variant	NM_002454.3(MTRR):c.973C>A (p.Gln325Lys)	Inborn genetic diseases [RCV003344052]\|Methylcobalamin deficiency type cblE [RCV000795056]\|Methylcobalamin deficiency type cblE [RCV002493449]	uncertain significance	5	7885770	7885770	Human	2	name
14704074	CV654385	single nucleotide variant	NM_002454.3(MTRR):c.340C>T (p.Arg114Ter)	Homocystinuria without methylmalonic aciduria [RCV000825568]\|Methylcobalamin deficiency type cblE [RCV001869267]\|Methylcobalamin deficiency type cblE [RCV002487868]\|Neural tube defects, folate-sensitive [RCV003461292]	pathogenic	5	7875314	7875314	Human	3	name
15105584	CV686764	single nucleotide variant	NM_002454.3(MTRR):c.857C>T (p.Thr286Met)	Methylcobalamin deficiency type cblE [RCV000871131]	likely benign	5	7883231	7883231	Human	1	name
26885549	CV830969	single nucleotide variant	NM_002454.3(MTRR):c.766G>T (p.Glu256Ter)	Methylcobalamin deficiency type cblE [RCV001043620]\|Methylcobalamin deficiency type cblE [RCV002481908]\|Neural tube defects, folate-sensitive [RCV003461462]\|not provided [RCV003442157]	pathogenic	5	7878308	7878308	Human	2	name
28894211	CV894708	single nucleotide variant	NM_002454.3(MTRR):c.365A>G (p.His122Arg)	Disorders of Intracellular Cobalamin Metabolism [RCV001153839]	uncertain significance	5	7875339	7875339	Human	1	name
28894214	CV894743	single nucleotide variant	NM_002454.3(MTRR):c.503C>T (p.Pro168Leu)	Disorders of Intracellular Cobalamin Metabolism [RCV001153840]\|Methylcobalamin deficiency type cblE [RCV001308481]	uncertain significance	5	7878045	7878045	Human	2	name
28900945	CV894747	single nucleotide variant	NM_002454.3(MTRR):c.682C>T (p.Leu228Phe)	Disorders of Intracellular Cobalamin Metabolism [RCV001156471]	uncertain significance	5	7878224	7878224	Human	1	name
28900948	CV894748	single nucleotide variant	NM_002454.3(MTRR):c.716C>T (p.Ser239Phe)	Disorders of Intracellular Cobalamin Metabolism [RCV001156472]\|Methylcobalamin deficiency type cblE [RCV002558364]	uncertain significance	5	7878258	7878258	Human	2	name
28904767	CV894749	single nucleotide variant	NM_002454.3(MTRR):c.952C>T (p.Pro318Ser)	Disorders of Intracellular Cobalamin Metabolism [RCV001158134]\|Inborn genetic diseases [RCV005384954]\|Methylcobalamin deficiency type cblE [RCV001882499]	uncertain significance	5	7885749	7885749	Human	3	name
38494687	CV954198	single nucleotide variant	NM_002454.3(MTRR):c.405A>C (p.Leu135Phe)	Methylcobalamin deficiency type cblE [RCV001241466]	uncertain significance	5	7877947	7877947	Human	1	name
38496198	CV954200	single nucleotide variant	NM_002454.3(MTRR):c.863A>G (p.Asp288Gly)	Methylcobalamin deficiency type cblE [RCV001242402]	uncertain significance	5	7883237	7883237	Human	1	name
126761910	CV1006184	single nucleotide variant	NM_002454.3(MTRR):c.1253G>A (p.Arg418Gln)	Methylcobalamin deficiency type cblE [RCV001318780]	uncertain significance	5	7889201	7889201	Human	1	name
126742299	CV1020125	single nucleotide variant	NM_002454.3(MTRR):c.1642G>A (p.Gly548Ser)	Methylcobalamin deficiency type cblE [RCV001336468]	uncertain significance	5	7895818	7895818	Human	1	name
126774520	CV1026692	single nucleotide variant	NM_002454.3(MTRR):c.1135A>G (p.Ile379Val)	Inborn genetic diseases [RCV004960831]\|Methylcobalamin deficiency type cblE [RCV001347322]	likely benign\|uncertain significance	5	7886692	7886692	Human	2	name
126766243	CV1026693	single nucleotide variant	NM_002454.3(MTRR):c.1216A>G (p.Ser406Gly)	Methylcobalamin deficiency type cblE [RCV001342346]	uncertain significance	5	7889164	7889164	Human	1	name
126919389	CV1043661	single nucleotide variant	NM_002454.3(MTRR):c.1832G>C (p.Arg611Thr)	Methylcobalamin deficiency type cblE [RCV001362261]	uncertain significance	5	7897127	7897127	Human	1	name
126918441	CV1043662	single nucleotide variant	NM_002454.3(MTRR):c.1844T>C (p.Val615Ala)	Methylcobalamin deficiency type cblE [RCV001372658]	uncertain significance	5	7897139	7897139	Human	1	name
127260140	CV1060454	single nucleotide variant	NM_002454.3(MTRR):c.1156C>T (p.Arg386Ter)	Methylcobalamin deficiency type cblE [RCV001380276]\|Methylcobalamin deficiency type cblE [RCV005038175]	pathogenic	5	7889104	7889104	Human	1	name
127242898	CV1060456	single nucleotide variant	NM_002454.3(MTRR):c.1339A>T (p.Lys447Ter)	Methylcobalamin deficiency type cblE [RCV001383913]	pathogenic	5	7891383	7891383	Human	1	name
127261802	CV1087329	single nucleotide variant	NM_002454.3(MTRR):c.1977T>G (p.Asp659Glu)	Methylcobalamin deficiency type cblE [RCV001420676]	uncertain significance	5	7899938	7899938	Human	1	name
151854077	CV1344270	single nucleotide variant	NM_002454.3(MTRR):c.1418T>C (p.Val473Ala)	Methylcobalamin deficiency type cblE [RCV001923173]	uncertain significance	5	7892774	7892774	Human	1	name
151834232	CV1345114	single nucleotide variant	NM_002454.3(MTRR):c.1537G>A (p.Gly513Arg)	Inborn genetic diseases [RCV004946777]\|Methylcobalamin deficiency type cblE [RCV001880607]\|Methylcobalamin deficiency type cblE [RCV002482479]	likely benign\|uncertain significance	5	7892893	7892893	Human	2	name
151861265	CV1353281	single nucleotide variant	NM_002454.3(MTRR):c.1070C>T (p.Pro357Leu)	Methylcobalamin deficiency type cblE [RCV001924027]	uncertain significance	5	7886627	7886627	Human	1	name
151751009	CV1360978	single nucleotide variant	NM_002454.3(MTRR):c.1591C>T (p.His531Tyr)	Methylcobalamin deficiency type cblE [RCV001894333]	uncertain significance	5	7895767	7895767	Human	1	name
151724027	CV1369643	single nucleotide variant	NM_002454.3(MTRR):c.1621A>G (p.Ile541Val)	Methylcobalamin deficiency type cblE [RCV001945294]	uncertain significance	5	7895797	7895797	Human	1	name
151711285	CV1373605	single nucleotide variant	NM_002454.3(MTRR):c.1720A>T (p.Met574Leu)	Methylcobalamin deficiency type cblE [RCV001889437]	uncertain significance	5	7896907	7896907	Human	1	name
151798442	CV1376645	single nucleotide variant	NM_002454.3(MTRR):c.1777C>T (p.Leu593Phe)	Inborn genetic diseases [RCV002548044]\|Methylcobalamin deficiency type cblE [RCV001932080]	uncertain significance	5	7897072	7897072	Human	2	name
151878048	CV1383392	single nucleotide variant	NM_002454.3(MTRR):c.1446G>C (p.Glu482Asp)	Methylcobalamin deficiency type cblE [RCV001907312]	uncertain significance	5	7892802	7892802	Human	1	name
151793919	CV1390369	single nucleotide variant	NM_002454.3(MTRR):c.1504C>T (p.Gln502Ter)	Methylcobalamin deficiency type cblE [RCV001952302]	pathogenic	5	7892860	7892860	Human	1	name
151830994	CV1405529	single nucleotide variant	NM_002454.3(MTRR):c.1727T>G (p.Leu576Trp)	Methylcobalamin deficiency type cblE [RCV001901811]\|not specified [RCV002246587]	uncertain significance	5	7896914	7896914	Human	1	name
151777407	CV1411720	single nucleotide variant	NM_002454.3(MTRR):c.1998A>C (p.Gln666His)	Methylcobalamin deficiency type cblE [RCV001930109]	uncertain significance	5	7899959	7899959	Human	1	name
151835401	CV1419028	single nucleotide variant	NM_002454.3(MTRR):c.1075C>T (p.His359Tyr)	Methylcobalamin deficiency type cblE [RCV001935499]	uncertain significance	5	7886632	7886632	Human	1	name
8692028	CV141994	single nucleotide variant	NM_002454.3(MTRR):c.1049A>G (p.Lys350Arg)	Disorders of Intracellular Cobalamin Metabolism [RCV000317483]\|Gastrointestinal stromal tumor [RCV000144925]\|Methylcobalamin deficiency type cblE [RCV001274260]\|not provided [RCV004715718]\|not specified [RCV000126870]	benign\|likely benign\|uncertain significance	5	7885846	7885846	Human	4	name
8692030	CV141996	single nucleotide variant	NM_002454.3(MTRR):c.1243C>T (p.Arg415Cys)	Disorders of Intracellular Cobalamin Metabolism [RCV000295321]\|Methylcobalamin deficiency type cblE [RCV001274261]\|not provided [RCV004715720]\|not specified [RCV000126872]	benign\|likely benign	5	7889191	7889191	Human	2	name
8692031	CV141997	single nucleotide variant	NM_002454.3(MTRR):c.1349C>G (p.Pro450Arg)	Disorders of Intracellular Cobalamin Metabolism [RCV000382140]\|Methylcobalamin deficiency type cblE [RCV001274262]\|not provided [RCV004717049]\|not specified [RCV000126874]	benign\|likely benign	5	7891393	7891393	Human	2	name
8692037	CV142003	single nucleotide variant	NM_002454.3(MTRR):c.1783C>T (p.His595Tyr)	Disorders of Intracellular Cobalamin Metabolism [RCV000302798]\|Gastrointestinal stromal tumor [RCV000144924]\|Methylcobalamin deficiency type cblE [RCV001274263]\|not provided [RCV001812074]\|not specified [RCV000126880]	benign\|likely benign\|uncertain significance	5	7897078	7897078	Human	4	name
151720888	CV1420929	single nucleotide variant	NM_002454.3(MTRR):c.1401T>G (p.His467Gln)	Methylcobalamin deficiency type cblE [RCV002040062]	uncertain significance	5	7892757	7892757	Human	1	name
151796161	CV1421487	single nucleotide variant	NM_002454.3(MTRR):c.1073A>G (p.Gln358Arg)	Methylcobalamin deficiency type cblE [RCV001917279]	uncertain significance	5	7886630	7886630	Human	1	name
151867439	CV1429446	single nucleotide variant	NM_002454.3(MTRR):c.1123G>T (p.Glu375Ter)	Methylcobalamin deficiency type cblE [RCV002035229]\|Neural tube defects, folate-sensitive [RCV004571699]	pathogenic\|likely pathogenic	5	7886680	7886680	Human	2	name
151785560	CV1435366	single nucleotide variant	NM_002454.3(MTRR):c.1574G>A (p.Arg525Gln)	Inborn genetic diseases [RCV004651811]\|Methylcobalamin deficiency type cblE [RCV001916282]	uncertain significance	5	7895750	7895750	Human	2	name
151843110	CV1438467	single nucleotide variant	NM_002454.3(MTRR):c.1018T>G (p.Cys340Gly)	Methylcobalamin deficiency type cblE [RCV001921773]	uncertain significance	5	7885815	7885815	Human	1	name
151814279	CV1449353	single nucleotide variant	NM_002454.3(MTRR):c.1597C>T (p.Pro533Ser)	Methylcobalamin deficiency type cblE [RCV002012749]	uncertain significance	5	7895773	7895773	Human	1	name
151749412	CV1460553	single nucleotide variant	NM_002454.3(MTRR):c.1883A>G (p.Asn628Ser)	Methylcobalamin deficiency type cblE [RCV001894175]	uncertain significance	5	7897178	7897178	Human	1	name
151850878	CV1461972	single nucleotide variant	NM_002454.3(MTRR):c.1136T>G (p.Ile379Ser)	Methylcobalamin deficiency type cblE [RCV001978918]	uncertain significance	5	7886693	7886693	Human	1	name
151745425	CV1501792	single nucleotide variant	NM_002454.3(MTRR):c.1502T>G (p.Leu501Arg)	Methylcobalamin deficiency type cblE [RCV002042673]	uncertain significance	5	7892858	7892858	Human	1	name
155685858	CV1771073	single nucleotide variant	NM_002454.3(MTRR):c.1175C>T (p.Thr392Ile)	Methylcobalamin deficiency type cblE [RCV002298956]	uncertain significance	5	7889123	7889123	Human	1	name
155706167	CV1778300	single nucleotide variant	NM_002454.3(MTRR):c.1015C>G (p.His339Asp)	Methylcobalamin deficiency type cblE [RCV002295930]	uncertain significance	5	7885812	7885812	Human	1	name
156159663	CV1872211	single nucleotide variant	NM_002454.3(MTRR):c.1583A>G (p.Asn528Ser)	Methylcobalamin deficiency type cblE [RCV003056846]	uncertain significance	5	7895759	7895759	Human	1	name
155957560	CV1873429	single nucleotide variant	NM_002454.3(MTRR):c.1784A>G (p.His595Arg)	Methylcobalamin deficiency type cblE [RCV003074503]	uncertain significance	5	7897079	7897079	Human	1	name
156282785	CV1877192	single nucleotide variant	NM_002454.3(MTRR):c.1958C>A (p.Ala653Glu)	Methylcobalamin deficiency type cblE [RCV003061125]	uncertain significance	5	7899919	7899919	Human	1	name
156056092	CV1879568	single nucleotide variant	NM_002454.3(MTRR):c.1846G>A (p.Gly616Arg)	Methylcobalamin deficiency type cblE [RCV003053168]	uncertain significance	5	7897141	7897141	Human	1	name
156296159	CV1888627	single nucleotide variant	NM_002454.3(MTRR):c.1927G>C (p.Glu643Gln)	Methylcobalamin deficiency type cblE [RCV003061670]	uncertain significance	5	7897222	7897222	Human	1	name
156401533	CV1889146	single nucleotide variant	NM_002454.3(MTRR):c.1520C>T (p.Ala507Val)	Methylcobalamin deficiency type cblE [RCV003069186]	uncertain significance	5	7892876	7892876	Human	1	name
156411109	CV1892921	single nucleotide variant	NM_002454.3(MTRR):c.1552C>T (p.Pro518Ser)	Methylcobalamin deficiency type cblE [RCV003072337]	uncertain significance	5	7892908	7892908	Human	1	name
155984669	CV1907451	single nucleotide variant	NM_002454.3(MTRR):c.1475G>A (p.Trp492Ter)	Methylcobalamin deficiency type cblE [RCV003097546]\|Neural tube defects, folate-sensitive [RCV003459750]	pathogenic\|likely pathogenic	5	7892831	7892831	Human	2	name
156365461	CV1908408	single nucleotide variant	NM_002454.3(MTRR):c.1058G>A (p.Gly353Glu)	Methylcobalamin deficiency type cblE [RCV002582029]	uncertain significance	5	7886615	7886615	Human	1	name
156359032	CV1910560	single nucleotide variant	NM_002454.3(MTRR):c.1493C>T (p.Ala498Val)	Methylcobalamin deficiency type cblE [RCV002632543]	uncertain significance	5	7892849	7892849	Human	1	name
10050260	CV191659	single nucleotide variant	NM_002454.3(MTRR):c.2071C>T (p.Arg691Cys)	Inborn genetic diseases [RCV003165362]\|Methylcobalamin deficiency type cblE [RCV001248675]\|not provided [RCV000174876]	uncertain significance	5	7900032	7900032	Human	2	name
155943779	CV1921016	single nucleotide variant	NM_002454.3(MTRR):c.1438A>G (p.Thr480Ala)	Methylcobalamin deficiency type cblE [RCV002615809]	uncertain significance	5	7892794	7892794	Human	1	name
156184191	CV1924640	single nucleotide variant	NM_002454.3(MTRR):c.1515A>G (p.Ile505Met)	Methylcobalamin deficiency type cblE [RCV002625144]	uncertain significance	5	7892871	7892871	Human	1	name
156160323	CV1933173	single nucleotide variant	NM_002454.3(MTRR):c.1499T>G (p.Val500Gly)	Methylcobalamin deficiency type cblE [RCV002624344]	uncertain significance	5	7892855	7892855	Human	1	name
155914866	CV1984171	single nucleotide variant	NM_002454.3(MTRR):c.1253G>C (p.Arg418Pro)	Inborn genetic diseases [RCV004948728]\|Methylcobalamin deficiency type cblE [RCV002614253]	uncertain significance	5	7889201	7889201	Human	2	name
156381856	CV1994904	single nucleotide variant	NM_002454.3(MTRR):c.1454G>A (p.Arg485Gln)	Inborn genetic diseases [RCV003167582]\|Methylcobalamin deficiency type cblE [RCV002653718]	uncertain significance	5	7892810	7892810	Human	2	name
156391051	CV1995505	single nucleotide variant	NM_002454.3(MTRR):c.1975G>T (p.Asp659Tyr)	Methylcobalamin deficiency type cblE [RCV002680765]	uncertain significance	5	7899936	7899936	Human	1	name
10056260	CV200105	single nucleotide variant	NM_002454.3(MTRR):c.1982A>G (p.His661Arg)	Disorders of Intracellular Cobalamin Metabolism [RCV000296913]\|MTRR-related disorder [RCV003927727]\|Methylcobalamin deficiency type cblE [RCV001083593]\|not provided [RCV000514325]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	5	7899943	7899943	Human	2	name , trait , alternate_id
156397739	CV2009204	single nucleotide variant	NM_002454.3(MTRR):c.1129C>T (p.Arg377Ter)	Methylcobalamin deficiency type cblE [RCV002725733]\|Methylcobalamin deficiency type cblE [RCV005044943]\|Neural tube defects, folate-sensitive [RCV003465817]	pathogenic\|likely pathogenic	5	7886686	7886686	Human	2	name
156082328	CV2012051	single nucleotide variant	NM_002454.3(MTRR):c.1670A>G (p.Gln557Arg)	Inborn genetic diseases [RCV004958710]\|Methylcobalamin deficiency type cblE [RCV002706029]	uncertain significance	5	7895846	7895846	Human	2	name
156188515	CV2030150	single nucleotide variant	NM_002454.3(MTRR):c.1144A>G (p.Lys382Glu)	Methylcobalamin deficiency type cblE [RCV002765836]	uncertain significance	5	7886701	7886701	Human	1	name
156017212	CV2035360	single nucleotide variant	NM_002454.3(MTRR):c.1063A>G (p.Thr355Ala)	Methylcobalamin deficiency type cblE [RCV002780469]	uncertain significance	5	7886620	7886620	Human	1	name
156379323	CV2050776	single nucleotide variant	NM_002454.3(MTRR):c.1596A>T (p.Leu532Phe)	Methylcobalamin deficiency type cblE [RCV002814964]	uncertain significance	5	7895772	7895772	Human	1	name
155999685	CV2057354	single nucleotide variant	NM_002454.3(MTRR):c.1619T>G (p.Ile540Ser)	Methylcobalamin deficiency type cblE [RCV002819589]	uncertain significance	5	7895795	7895795	Human	1	name
156054366	CV2101905	single nucleotide variant	NM_002454.3(MTRR):c.1020C>A (p.Cys340Ter)	Methylcobalamin deficiency type cblE [RCV002886271]	pathogenic	5	7885817	7885817	Human	1	name
156342279	CV2103410	single nucleotide variant	NM_002454.3(MTRR):c.1056A>C (p.Lys352Asn)	Inborn genetic diseases [RCV002900543]\|Methylcobalamin deficiency type cblE [RCV002900542]	uncertain significance	5	7885853	7885853	Human	2	name
155999336	CV2106664	single nucleotide variant	NM_002454.3(MTRR):c.1415T>C (p.Ile472Thr)	Methylcobalamin deficiency type cblE [RCV002947712]	uncertain significance	5	7892771	7892771	Human	1	name
156133416	CV2113150	single nucleotide variant	NM_002454.3(MTRR):c.1771A>G (p.Lys591Glu)	Methylcobalamin deficiency type cblE [RCV002928288]	uncertain significance	5	7897066	7897066	Human	1	name
156380056	CV2117908	single nucleotide variant	NM_002454.3(MTRR):c.2072G>A (p.Arg691His)	Inborn genetic diseases [RCV004948846]\|Methylcobalamin deficiency type cblE [RCV002943071]	uncertain significance	5	7900033	7900033	Human	2	name
156223975	CV2121712	single nucleotide variant	NM_002454.3(MTRR):c.1682A>G (p.Lys561Arg)	Methylcobalamin deficiency type cblE [RCV002958254]	uncertain significance	5	7896869	7896869	Human	1	name
156027948	CV2125259	single nucleotide variant	NM_002454.3(MTRR):c.1564A>G (p.Ile522Val)	Inborn genetic diseases [RCV002949096]\|Methylcobalamin deficiency type cblE [RCV002949097]	uncertain significance	5	7895740	7895740	Human	2	name
156081081	CV2138196	single nucleotide variant	NM_002454.3(MTRR):c.1628T>A (p.Val543Glu)	Methylcobalamin deficiency type cblE [RCV002979262]	uncertain significance	5	7895804	7895804	Human	1	name
156313371	CV2143856	single nucleotide variant	NM_002454.3(MTRR):c.1526A>G (p.His509Arg)	Methylcobalamin deficiency type cblE [RCV003011242]	uncertain significance	5	7892882	7892882	Human	1	name
155926504	CV2145130	single nucleotide variant	NM_002454.3(MTRR):c.1373C>G (p.Ser458Ter)	Methylcobalamin deficiency type cblE [RCV003013433]\|Neural tube defects, folate-sensitive [RCV003465890]	pathogenic\|likely pathogenic	5	7892729	7892729	Human	2	name
156312721	CV2151396	single nucleotide variant	NM_002454.3(MTRR):c.1457A>G (p.Lys486Arg)	Methylcobalamin deficiency type cblE [RCV003028675]	uncertain significance	5	7892813	7892813	Human	1	name
155980915	CV2163070	single nucleotide variant	NM_002454.3(MTRR):c.1534A>C (p.Ser512Arg)	Methylcobalamin deficiency type cblE [RCV003033874]	uncertain significance	5	7892890	7892890	Human	1	name
156141625	CV2167727	single nucleotide variant	NM_002454.3(MTRR):c.1768A>G (p.Arg590Gly)	Methylcobalamin deficiency type cblE [RCV003022540]	uncertain significance	5	7896955	7896955	Human	1	name
8597324	CV22069	single nucleotide variant	NM_002454.3(MTRR):c.1459G>A (p.Gly487Arg)	Inborn genetic diseases [RCV000210727]\|Methylcobalamin deficiency type cblE [RCV000007446]\|Neural tube defects, folate-sensitive [RCV003460433]\|not provided [RCV004700198]	pathogenic\|likely pathogenic	5	7892815	7892815	Human	3	name
8597325	CV22072	single nucleotide variant	NM_002454.3(MTRR):c.1361C>T (p.Ser454Leu)	Disorders of Intracellular Cobalamin Metabolism [RCV002512874]\|Methylcobalamin deficiency type cblE [RCV000007449]\|Neural tube defects, folate-sensitive [RCV003460434]\|not provided [RCV000757493]	pathogenic\|not provided	5	7891405	7891405	Human	3	name
156339110	CV2225039	single nucleotide variant	NM_002454.3(MTRR):c.1583A>C (p.Asn528Thr)	Inborn genetic diseases [RCV002718905]	uncertain significance	5	7895759	7895759	Human	1	name
156366025	CV2272222	single nucleotide variant	NM_002454.3(MTRR):c.1033A>G (p.Ile345Val)	Inborn genetic diseases [RCV002813555]	likely benign	5	7885830	7885830	Human	1	name
155904541	CV2298822	single nucleotide variant	NM_002454.3(MTRR):c.1544C>A (p.Ala515Asp)	Inborn genetic diseases [RCV002901583]	uncertain significance	5	7892900	7892900	Human	1	name
155912736	CV2308990	single nucleotide variant	NM_002454.3(MTRR):c.1838C>G (p.Ala613Gly)	Inborn genetic diseases [RCV002902857]	uncertain significance	5	7897133	7897133	Human	1	name
156264102	CV2312050	single nucleotide variant	NM_002454.3(MTRR):c.1909G>T (p.Ala637Ser)	Inborn genetic diseases [RCV002920687]	uncertain significance	5	7897204	7897204	Human	1	name
156280871	CV2316013	single nucleotide variant	NM_002454.3(MTRR):c.1312C>T (p.Leu438Phe)	Inborn genetic diseases [RCV002934930]	uncertain significance	5	7889260	7889260	Human	1	name
156181737	CV2327842	single nucleotide variant	NM_002454.3(MTRR):c.1076A>G (p.His359Arg)	Inborn genetic diseases [RCV002930454]	uncertain significance	5	7886633	7886633	Human	1	name
329366001	CV2437979	single nucleotide variant	NM_002454.3(MTRR):c.1615C>T (p.Pro539Ser)	Inborn genetic diseases [RCV003207510]	uncertain significance	5	7895791	7895791	Human	1	name
329402466	CV2454287	single nucleotide variant	NM_002454.3(MTRR):c.1910C>T (p.Ala637Val)	Inborn genetic diseases [RCV003199352]	likely benign	5	7897205	7897205	Human	1	name
11559709	CV259828	single nucleotide variant	NM_002454.3(MTRR):c.1573C>T (p.Arg525Ter)	Methylcobalamin deficiency type cblE [RCV001068078]\|Methylcobalamin deficiency type cblE [RCV002500959]\|Neural tube defects, folate-sensitive [RCV003469197]\|not provided [RCV000254795]	pathogenic	5	7895749	7895749	Human	2	name
401771587	CV2686244	single nucleotide variant	NM_002454.3(MTRR):c.1288G>A (p.Ala430Thr)	Inborn genetic diseases [RCV003284768]	uncertain significance	5	7889236	7889236	Human	1	name
401942395	CV2837897	single nucleotide variant	NM_002454.3(MTRR):c.1496C>G (p.Ser499Ter)	Neural tube defects, folate-sensitive [RCV003463066]	likely pathogenic	5	7892852	7892852	Human	1	name
401946532	CV2837901	single nucleotide variant	NM_002454.3(MTRR):c.1669C>T (p.Gln557Ter)	Neural tube defects, folate-sensitive [RCV003470275]	likely pathogenic	5	7895845	7895845	Human	1	name
402491395	CV2865962	single nucleotide variant	NM_002454.3(MTRR):c.1219A>T (p.Lys407Ter)	Methylcobalamin deficiency type cblE [RCV003507696]	pathogenic	5	7889167	7889167	Human	1	name
405130098	CV2949058	single nucleotide variant	NM_002454.3(MTRR):c.1796A>G (p.His599Arg)	Methylcobalamin deficiency type cblE [RCV003618185]	uncertain significance	5	7897091	7897091	Human	1	name
11594028	CV298199	single nucleotide variant	NM_002454.3(MTRR):c.2021T>C (p.Val674Ala)	Disorders of Intracellular Cobalamin Metabolism [RCV000354530]\|Inborn genetic diseases [RCV002524456]\|Methylcobalamin deficiency type cblE [RCV002520387]	uncertain significance	5	7899982	7899982	Human	3	name
11645094	CV300462	single nucleotide variant	NM_002454.3(MTRR):c.1138C>A (p.Pro380Thr)	Disorders of Intracellular Cobalamin Metabolism [RCV000263413]	uncertain significance	5	7886695	7886695	Human	1	name
11602316	CV304727	single nucleotide variant	NM_002454.3(MTRR):c.1472G>A (p.Gly491Asp)	Disorders of Intracellular Cobalamin Metabolism [RCV000289989]\|Inborn genetic diseases [RCV002523534]	uncertain significance	5	7892828	7892828	Human	2	name
11610852	CV304986	single nucleotide variant	NM_002454.3(MTRR):c.1182C>G (p.Asp394Glu)	Disorders of Intracellular Cobalamin Metabolism [RCV000387179]\|Inborn genetic diseases [RCV004649141]\|Methylcobalamin deficiency type cblE [RCV000816569]\|not provided [RCV001200466]	likely benign\|uncertain significance	5	7889130	7889130	Human	3	name
405255591	CV3172572	single nucleotide variant	NM_002454.3(MTRR):c.1016A>G (p.His339Arg)	Methylcobalamin deficiency type cblE [RCV003872510]	uncertain significance	5	7885813	7885813	Human	1	name
405653246	CV3377151	single nucleotide variant	NM_002454.3(MTRR):c.1412A>G (p.Asn471Ser)	Inborn genetic diseases [RCV004510186]	uncertain significance	5	7892768	7892768	Human	1	name
405653256	CV3377156	single nucleotide variant	NM_002454.3(MTRR):c.1427T>G (p.Leu476Arg)	Inborn genetic diseases [RCV004510191]	uncertain significance	5	7892783	7892783	Human	1	name
405653347	CV3379600	single nucleotide variant	NM_002454.3(MTRR):c.1607C>G (p.Pro536Arg)	Inborn genetic diseases [RCV004510212]	uncertain significance	5	7895783	7895783	Human	1	name
408384410	CV3525962	duplication	NM_002454.3(MTRR):c.1674dup (p.Arg559Ter)	Methylcobalamin deficiency type cblE [RCV004766872]	pathogenic	5	7895849	7895850	Human	1	name
597701252	CV3561342	single nucleotide variant	NM_002454.3(MTRR):c.1517A>G (p.His506Arg)	Inborn genetic diseases [RCV004956673]	uncertain significance	5	7892873	7892873	Human	1	name
597701258	CV3561343	single nucleotide variant	NM_002454.3(MTRR):c.2062G>A (p.Glu688Lys)	Inborn genetic diseases [RCV004956674]\|Methylcobalamin deficiency type cblE [RCV005061483]	uncertain significance	5	7900023	7900023	Human	2	name
597664066	CV3561347	single nucleotide variant	NM_002454.3(MTRR):c.1002A>C (p.Glu334Asp)	Inborn genetic diseases [RCV004947242]	uncertain significance	5	7885799	7885799	Human	1	name
597664073	CV3561348	single nucleotide variant	NM_002454.3(MTRR):c.1472G>T (p.Gly491Val)	Inborn genetic diseases [RCV004947243]	uncertain significance	5	7892828	7892828	Human	1	name
597664079	CV3561349	single nucleotide variant	NM_002454.3(MTRR):c.1796A>T (p.His599Leu)	Inborn genetic diseases [RCV004947244]	uncertain significance	5	7897091	7897091	Human	1	name
597664084	CV3561350	single nucleotide variant	NM_002454.3(MTRR):c.1231G>A (p.Ala411Thr)	Inborn genetic diseases [RCV004947245]	uncertain significance	5	7889179	7889179	Human	1	name
12841226	CV368556	single nucleotide variant	NM_002454.3(MTRR):c.1544C>T (p.Ala515Val)	MTRR-related disorder [RCV003959958]\|Methylcobalamin deficiency type cblE [RCV000872900]\|not provided [RCV001721331]	likely benign	5	7892900	7892900	Human	1	name , trait , alternate_id
12846576	CV368724	single nucleotide variant	NM_002454.3(MTRR):c.1006A>G (p.Lys336Glu)	not specified [RCV000441913]	likely benign	5	7885803	7885803	Human		name
12846597	CV369947	single nucleotide variant	NM_002454.3(MTRR):c.1819G>A (p.Val607Ile)	Disorders of Intracellular Cobalamin Metabolism [RCV001154798]\|MTRR-related disorder [RCV003902581]\|Methylcobalamin deficiency type cblE [RCV000872119]\|not provided [RCV004711072]\|not specified [RCV000441957]	benign\|likely benign	5	7897114	7897114	Human	2	name , trait , alternate_id
597681929	CV3718574	single nucleotide variant	NM_002454.3(MTRR):c.1459G>C (p.Gly487Arg)	Methylcobalamin deficiency type cblE [RCV005045462]	likely pathogenic	5	7892815	7892815	Human	1	name
597736760	CV3718575	single nucleotide variant	NM_002454.3(MTRR):c.1725G>A (p.Trp575Ter)	Methylcobalamin deficiency type cblE [RCV005037681]	likely pathogenic	5	7896912	7896912	Human	1	name
597931427	CV3780361	single nucleotide variant	NM_002454.3(MTRR):c.1687C>T (p.Gln563Ter)	Methylcobalamin deficiency type cblE [RCV005116681]	pathogenic	5	7896874	7896874	Human	1	name
597899863	CV3835259	single nucleotide variant	NM_002454.3(MTRR):c.1693C>A (p.Gln565Lys)	Methylcobalamin deficiency type cblE [RCV005180979]	uncertain significance	5	7896880	7896880	Human	1	name
597962059	CV3840826	single nucleotide variant	NM_002454.3(MTRR):c.2014G>A (p.Val672Ile)	Methylcobalamin deficiency type cblE [RCV005193119]	uncertain significance	5	7899975	7899975	Human	1	name
598228425	CV3986522	single nucleotide variant	NM_002454.3(MTRR):c.1958C>T (p.Ala653Val)	Inborn genetic diseases [RCV005380788]	uncertain significance	5	7899919	7899919	Human	1	name
598228419	CV3986523	single nucleotide variant	NM_002454.3(MTRR):c.1654T>C (p.Phe552Leu)	Inborn genetic diseases [RCV005380789]	uncertain significance	5	7895830	7895830	Human	1	name
13436273	CV433709	single nucleotide variant	NM_002454.3(MTRR):c.1468A>G (p.Thr490Ala)	Disorders of Intracellular Cobalamin Metabolism [RCV001153941]\|Methylcobalamin deficiency type cblE [RCV001083540]\|not provided [RCV001532027]	benign\|likely benign	5	7892824	7892824	Human	2	name
13527820	CV513279	single nucleotide variant	NM_002454.3(MTRR):c.1379T>G (p.Leu460Ter)	Methylcobalamin deficiency type cblE [RCV000625774]	pathogenic	5	7892735	7892735	Human	1	name
13611433	CV514513	single nucleotide variant	NM_002454.3(MTRR):c.1780A>T (p.Arg594Ter)	Methylcobalamin deficiency type cblE [RCV001834982]\|Neural tube defects, folate-sensitive [RCV003465365]\|not provided [RCV000627375]	pathogenic\|likely pathogenic	5	7897075	7897075	Human	2	name
13612472	CV521604	single nucleotide variant	NM_002454.3(MTRR):c.1246T>C (p.Phe416Leu)	Inborn genetic diseases [RCV002544667]\|Methylcobalamin deficiency type cblE [RCV000642242]	uncertain significance	5	7889194	7889194	Human	2	name
13704763	CV538989	single nucleotide variant	NM_002454.3(MTRR):c.1165G>A (p.Val389Met)	Methylcobalamin deficiency type cblE [RCV000661941]	uncertain significance	5	7889113	7889113	Human	1	name
13808713	CV560494	single nucleotide variant	NM_002454.3(MTRR):c.1021G>A (p.Val341Ile)	Disorders of Intracellular Cobalamin Metabolism [RCV001158136]\|Methylcobalamin deficiency type cblE [RCV000701704]	uncertain significance	5	7885818	7885818	Human	2	name
14728428	CV634035	single nucleotide variant	NM_002454.3(MTRR):c.1035A>G (p.Ile345Met)	Inborn genetic diseases [RCV003243331]\|Methylcobalamin deficiency type cblE [RCV000816511]\|not provided [RCV003432776]	likely benign\|uncertain significance	5	7885832	7885832	Human	2	name
28896819	CV894752	single nucleotide variant	NM_002454.3(MTRR):c.1793A>G (p.Lys598Arg)	Disorders of Intracellular Cobalamin Metabolism [RCV001154797]	uncertain significance	5	7897088	7897088	Human	1	name
28896824	CV894753	single nucleotide variant	NM_002454.3(MTRR):c.1827C>G (p.Phe609Leu)	Disorders of Intracellular Cobalamin Metabolism [RCV001154799]	uncertain significance	5	7897122	7897122	Human	1	name
28905051	CV894757	single nucleotide variant	NM_002454.3(MTRR):c.2006G>A (p.Ser669Asn)	Disorders of Intracellular Cobalamin Metabolism [RCV001158249]	uncertain significance	5	7899967	7899967	Human	1	name
38477734	CV924115	single nucleotide variant	NM_002454.3(MTRR):c.1818G>T (p.Lys606Asn)	Methylcobalamin deficiency type cblE [RCV001216280]	uncertain significance	5	7897113	7897113	Human	1	name
38482503	CV932960	single nucleotide variant	NM_002454.3(MTRR):c.1492G>A (p.Ala498Thr)	Methylcobalamin deficiency type cblE [RCV001207286]	uncertain significance	5	7892848	7892848	Human	1	name
38499635	CV954201	single nucleotide variant	NM_002454.3(MTRR):c.1120C>T (p.Leu374Phe)	Inborn genetic diseases [RCV002568605]\|Methylcobalamin deficiency type cblE [RCV001244887]	uncertain significance	5	7886677	7886677	Human	2	name
38497636	CV954202	single nucleotide variant	NM_002454.3(MTRR):c.1252C>T (p.Arg418Ter)	Methylcobalamin deficiency type cblE [RCV001243293]\|Neural tube defects, folate-sensitive [RCV004570619]	pathogenic\|likely pathogenic	5	7889200	7889200	Human	2	name
38498915	CV954203	single nucleotide variant	NM_002454.3(MTRR):c.1789C>A (p.Leu597Ile)	Methylcobalamin deficiency type cblE [RCV001244120]	uncertain significance	5	7897084	7897084	Human	1	name
40906912	CV978210	single nucleotide variant	NM_002454.3(MTRR):c.1364G>C (p.Cys455Ser)	Inborn genetic diseases [RCV004951444]\|Methylcobalamin deficiency type cblE [RCV001280372]	uncertain significance	5	7891408	7891408	Human	2	name
40906913	CV978211	single nucleotide variant	NM_002454.3(MTRR):c.1490T>C (p.Val497Ala)	Methylcobalamin deficiency type cblE [RCV001280373]	uncertain significance	5	7892846	7892846	Human	1	name
40906914	CV978213	single nucleotide variant	NM_002454.3(MTRR):c.1717G>A (p.Ala573Thr)	Methylcobalamin deficiency type cblE [RCV001280374]	uncertain significance	5	7896904	7896904	Human	1	name
126743614	CV991024	single nucleotide variant	NM_002454.3(MTRR):c.1430C>G (p.Ser477Cys)	Methylcobalamin deficiency type cblE [RCV001305725]	uncertain significance	5	7892786	7892786	Human	1	name
126749747	CV991025	single nucleotide variant	NM_002454.3(MTRR):c.1970C>T (p.Ala657Val)	Methylcobalamin deficiency type cblE [RCV001306701]	uncertain significance	5	7899931	7899931	Human	1	name
127260130	CV1060452	microsatellite	NM_002454.3(MTRR):c.718_719del (p.Leu240fs)	Methylcobalamin deficiency type cblE [RCV001380274]	pathogenic	5	7878256	7878257	Human		name
151840562	CV1432088	deletion	NM_002454.3(MTRR):c.354_358del (p.Gly119fs)	MTRR-related disorder [RCV003395318]\|Methylcobalamin deficiency type cblE [RCV001994688]	pathogenic\|likely pathogenic	5	7875328	7875332	Human	1	name , trait , alternate_id
156292703	CV2047307	deletion	NM_002454.3(MTRR):c.645_648del (p.Gln216fs)	Methylcobalamin deficiency type cblE [RCV002770836]	pathogenic	5	7878184	7878187	Human	1	name
155982594	CV2070192	deletion	NM_002454.3(MTRR):c.930_934del (p.Asp311fs)	Methylcobalamin deficiency type cblE [RCV002842594]	pathogenic	5	7885726	7885730	Human	1	name
405130074	CV2939103	microsatellite	NM_002454.3(MTRR):c.397_398del (p.Val133fs)	Methylcobalamin deficiency type cblE [RCV003618182]	pathogenic	5	7875368	7875369	Human		name
405025253	CV3139471	deletion	NM_002454.3(MTRR):c.908_909del (p.Thr303fs)	Methylcobalamin deficiency type cblE [RCV003830114]	pathogenic	5	7885704	7885705	Human	1	name
405873819	CV3398800	deletion	NM_002454.3(MTRR):c.378_384del (p.Gly127fs)	Methylcobalamin deficiency type cblE [RCV005038715]\|Neural tube defects, folate-sensitive [RCV004576280]	likely pathogenic	5	7875352	7875358	Human	2	name
597736755	CV3718568	deletion	NM_002454.3(MTRR):c.488_489del (p.Ile163fs)	Methylcobalamin deficiency type cblE [RCV005037680]	likely pathogenic	5	7878029	7878030	Human	1	name
597928553	CV3788835	duplication	NM_002454.3(MTRR):c.671_672dup (p.Glu225fs)	Methylcobalamin deficiency type cblE [RCV005131314]	pathogenic	5	7878211	7878212	Human	1	name
8559718	CV22067	microsatellite	NM_002454.3(MTRR):c.1725GTT[1] (p.Leu576del)	Methylcobalamin deficiency type cblE [RCV000007443]	pathogenic	5	7896912	7896914	Human		name
597681920	CV3718573	microsatellite	NM_002454.3(MTRR):c.1279CTC[2] (p.Leu429del)	Methylcobalamin deficiency type cblE [RCV005045461]	likely pathogenic	5	7889227	7889229	Human		name
127239429	CV1060453	deletion	NM_002454.3(MTRR):c.1048_1049del (p.Lys350fs)	Methylcobalamin deficiency type cblE [RCV001383252]	pathogenic	5	7885844	7885845	Human	1	name
151884944	CV1366980	deletion	NM_002454.3(MTRR):c.1049_1052del (p.Lys350fs)	Methylcobalamin deficiency type cblE [RCV001941840]	pathogenic	5	7885844	7885847	Human	1	name
156364551	CV1895655	microsatellite	NM_002454.3(MTRR):c.1418_1419del (p.Val473fs)	Methylcobalamin deficiency type cblE [RCV003091956]\|Neural tube defects, folate-sensitive [RCV003465958]	pathogenic\|likely pathogenic	5	7892772	7892773	Human		name
156336667	CV2178209	duplication	NM_002454.3(MTRR):c.1355_1361dup (p.Cys455fs)	Methylcobalamin deficiency type cblE [RCV003047515]	pathogenic	5	7891397	7891398	Human	1	name
401942385	CV2837892	deletion	NM_002454.3(MTRR):c.1599_1606del (p.Asp534fs)	Neural tube defects, folate-sensitive [RCV003463063]	likely pathogenic	5	7895772	7895779	Human	1	name
401942388	CV2837895	deletion	NM_002454.3(MTRR):c.1943_1944del (p.Tyr648fs)	Neural tube defects, folate-sensitive [RCV003463064]	likely pathogenic\|uncertain significance	5	7897237	7897238	Human	1	name
14740018	CV634036	deletion	NM_002454.3(MTRR):c.1183_1184del (p.Ser395fs)	Methylcobalamin deficiency type cblE [RCV000805181]	pathogenic	5	7889131	7889132	Human	1	name
38484090	CV944662	deletion	NM_002454.3(MTRR):c.1163_1188del (p.Leu388fs)	Methylcobalamin deficiency type cblE [RCV001236196]	pathogenic	5	7889111	7889136	Human	1	name
156417719	CV1910017	deletion	NM_002454.3(MTRR):c.1047_1049del (p.Lys352del)	Methylcobalamin deficiency type cblE [RCV002610880]	uncertain significance	5	7885844	7885846	Human	1	name
10056261	CV200103	deletion	NM_002454.3(MTRR):c.1091_1093del (p.Cys364del)	Disorders of Intracellular Cobalamin Metabolism [RCV000374314]\|Methylcobalamin deficiency type cblE [RCV001080399]\|not provided [RCV000766293]\|not specified [RCV000186042]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	5	7886647	7886649	Human	2	name
8559719	CV22070	duplication	NM_002454.3(MTRR):c.1622_1623dup (p.Met542Ter)	Methylcobalamin deficiency type cblE [RCV000007447]	pathogenic	5	7895796	7895797	Human	1	name
14693303	CV620200	insertion	NM_002454.3(MTRR):c.1927_1928insTT (p.Glu643fs)	Disorders of Intracellular Cobalamin Metabolism [RCV000778770]	uncertain significance	5	7897222	7897223	Human		name
14693302	CV620784	microsatellite	NM_002454.3(MTRR):c.1678_1681del (p.Glu560Asnfs)	Inborn genetic diseases [RCV001267450]\|MTRR-related disorder [RCV004753037]\|Methylcobalamin deficiency type cblE [RCV000824011]\|Neural tube defects, folate-sensitive [RCV003465707]\|not provided [RCV001008141]	pathogenic\|uncertain significance\|no classifications from unflagged records	5	7896862	7896865	Human		name , trait , alternate_id
13436715	CV433710	deletion	NM_002454.2(MTRR):c.1090_1092delTGT (p.Cys364del)	not specified [RCV000507643]	uncertain significance	5	7886647	7886649	Human		name
156407269	CV1875112	indel	NM_002454.3(MTRR):c.1910_1911delinsAA (p.Ala637Glu)	Methylcobalamin deficiency type cblE [RCV003070796]	uncertain significance	5	7897205	7897206	Human		name
38463222	CV932959	indel	NM_002454.3(MTRR):c.1155_1156delinsAT (p.Arg386Ter)	Methylcobalamin deficiency type cblE [RCV001212318]	pathogenic	5	7889103	7889104	Human		name
401941639	CV2837872	indel	NM_002454.3(MTRR):c.1805_1806delinsAAGATC (p.Leu602Ter)	Neural tube defects, folate-sensitive [RCV003461980]	likely pathogenic	5	7897100	7897101	Human		name
127249264	CV1060455	insertion	NM_002454.3(MTRR):c.1314_1315insCTGCCAGCCACCACTC (p.Ser439fs)	Methylcobalamin deficiency type cblE [RCV001385070]	pathogenic	5	7889247	7889248	Human	1	name
597940466	CV3836696	inversion	NM_002454.3(MTRR):c.1067_1070inv (p.Leu356_Pro357delinsTrpTyr)	Methylcobalamin deficiency type cblE [RCV005187716]	uncertain significance	5	7886624	7886627	Human		name

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