Mmaa Variant Search Result - Rat Genome Database

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606 records found for search term Mmaa

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
8557254	CV18195	deletion	MMAA, 4-BP DEL, 592ACTG	Methylmalonic aciduria cblA type [RCV000003306]	pathogenic				Human		name
597653708	CV3724557	single nucleotide variant	NM_172250.3(MMAA):c.-5C>G	Methylmalonic aciduria, cblA type [RCV005027138]	uncertain significance	4	145639135	145639135	Human	1	name
40905116	CV978018	single nucleotide variant	NM_172250.3(MMAA):c.-4G>A	MMAA-related disorder [RCV003963171]\|Methylmalonic aciduria, cblA type [RCV001278246]	likely benign\|uncertain significance	4	145639136	145639136	Human	1	name , trait , alternate_id
8691973	CV141939	single nucleotide variant	NM_172250.3(MMAA):c.-56A>G	Methylmalonic aciduria, cblA type [RCV000270654]\|not provided [RCV004715716]\|not specified [RCV000126787]	benign\|likely benign	4	145639084	145639084	Human	1	name
11664027	CV292308	single nucleotide variant	NM_172250.3(MMAA):c.-69G>T	Methylmalonic aciduria, cblA type [RCV000401952]	uncertain significance	4	145619404	145619404	Human	1	name
11653355	CV293749	single nucleotide variant	NM_172250.3(MMAA):c.-68C>T	Methylmalonic aciduria, cblA type [RCV000310601]	uncertain significance	4	145619405	145619405	Human	1	name
11657725	CV297034	single nucleotide variant	NM_172250.3(MMAA):c.*67G>A	Methylmalonic aciduria, cblA type [RCV000343700]	uncertain significance	4	145655501	145655501	Human	1	name
405701435	CV3225986	deletion	NM_172250.3(MMAA):c.821del	Methylmalonic aciduria, cblA type [RCV003989428]	likely pathogenic	4	145653993	145653993	Human	1	name
12847963	CV367610	single nucleotide variant	NM_172250.3(MMAA):c.-35A>T	not specified [RCV000444426]	benign\|likely benign	4	145639105	145639105	Human		name
12840857	CV367941	single nucleotide variant	NM_172250.3(MMAA):c.-71G>C	Methylmalonic aciduria, cblA type [RCV001147359]\|not specified [RCV000431515]	likely benign\|uncertain significance	4	145619402	145619402	Human	1	name
28874805	CV890144	single nucleotide variant	NM_172250.3(MMAA):c.-68C>A	Methylmalonic aciduria, cblA type [RCV001147360]	uncertain significance	4	145619405	145619405	Human	1	name
28877552	CV890145	single nucleotide variant	NM_172250.3(MMAA):c.-14C>T	Methylmalonic aciduria, cblA type [RCV001148379]\|not provided [RCV001586007]	likely benign\|uncertain significance	4	145639126	145639126	Human	1	name
28871018	CV890150	single nucleotide variant	NM_172250.3(MMAA):c.*97G>C	Methylmalonic aciduria, cblA type [RCV001145635]	conflicting interpretations of pathogenicity\|uncertain significance	4	145655531	145655531	Human	1	name
11588196	CV292329	single nucleotide variant	NM_172250.3(MMAA):c.*306T>A	Methylmalonic aciduria, cblA type [RCV000301198]\|not provided [RCV001712134]	benign\|likely benign	4	145655740	145655740	Human	1	name
11655746	CV292330	single nucleotide variant	NM_172250.3(MMAA):c.*942A>G	Methylmalonic aciduria, cblA type [RCV000328213]	uncertain significance	4	145656376	145656376	Human	1	name
11653839	CV293756	single nucleotide variant	NM_172250.3(MMAA):c.*188A>G	Methylmalonic aciduria, cblA type [RCV000313616]	uncertain significance	4	145655622	145655622	Human	1	name
11594670	CV293758	single nucleotide variant	NM_172250.3(MMAA):c.*541A>G	Methylmalonic aciduria, cblA type [RCV000361580]	uncertain significance	4	145655975	145655975	Human	1	name
11595944	CV293759	single nucleotide variant	NM_172250.3(MMAA):c.*703C>T	Methylmalonic aciduria, cblA type [RCV000376738]	uncertain significance	4	145656137	145656137	Human	1	name
11586983	CV293760	single nucleotide variant	NM_172250.3(MMAA):c.*890G>A	Methylmalonic aciduria, cblA type [RCV000291990]	uncertain significance	4	145656324	145656324	Human	1	name
11597485	CV297037	single nucleotide variant	NM_172250.3(MMAA):c.*177A>G	Methylmalonic aciduria, cblA type [RCV000394982]	uncertain significance	4	145655611	145655611	Human	1	name
11595222	CV297038	single nucleotide variant	NM_172250.3(MMAA):c.*192G>A	Methylmalonic aciduria, cblA type [RCV000368235]	uncertain significance	4	145655626	145655626	Human	1	name
11662901	CV297044	single nucleotide variant	NM_172250.3(MMAA):c.*229T>C	Methylmalonic aciduria, cblA type [RCV000390231]	uncertain significance	4	145655663	145655663	Human	1	name
11582617	CV297052	single nucleotide variant	NM_172250.3(MMAA):c.*434C>T	Methylmalonic aciduria, cblA type [RCV000261217]\|not provided [RCV004717500]	benign\|likely benign	4	145655868	145655868	Human	1	name
11645693	CV297053	single nucleotide variant	NM_172250.3(MMAA):c.*589C>G	Methylmalonic acidemia [RCV000266921]	uncertain significance	4	145656023	145656023	Human	2	name
11659211	CV297115	single nucleotide variant	NM_172250.3(MMAA):c.*342A>G	Methylmalonic aciduria, cblA type [RCV000356004]	uncertain significance	4	145655776	145655776	Human	1	name
11654287	CV297119	single nucleotide variant	NM_172250.3(MMAA):c.*540A>T	Methylmalonic aciduria, cblA type [RCV000316424]	uncertain significance	4	145655974	145655974	Human	1	name
11590749	CV297120	single nucleotide variant	NM_172250.3(MMAA):c.*600G>A	Methylmalonic aciduria, cblA type [RCV000322083]\|not provided [RCV003437103]	benign\|uncertain significance	4	145656034	145656034	Human	1	name
28871019	CV890151	single nucleotide variant	NM_172250.3(MMAA):c.*152A>G	Methylmalonic aciduria, cblA type [RCV001145636]	uncertain significance	4	145655586	145655586	Human	1	name
28871021	CV890152	single nucleotide variant	NM_172250.3(MMAA):c.*190C>T	Methylmalonic aciduria, cblA type [RCV001145637]	uncertain significance	4	145655624	145655624	Human	1	name
28877871	CV890153	single nucleotide variant	NM_172250.3(MMAA):c.*353C>A	Methylmalonic aciduria, cblA type [RCV001148491]	uncertain significance	4	145655787	145655787	Human	1	name
28877874	CV890154	single nucleotide variant	NM_172250.3(MMAA):c.*581G>T	Methylmalonic aciduria, cblA type [RCV001148492]	uncertain significance	4	145656015	145656015	Human	1	name
28882744	CV890155	single nucleotide variant	NM_172250.3(MMAA):c.*611A>C	Methylmalonic aciduria, cblA type [RCV001150061]	uncertain significance	4	145656045	145656045	Human	1	name
28882748	CV890156	single nucleotide variant	NM_172250.3(MMAA):c.*661C>T	Methylmalonic aciduria, cblA type [RCV001150062]	uncertain significance	4	145656095	145656095	Human	1	name
126916328	CV1042599	single nucleotide variant	NM_172250.3(MMAA):c.562+4A>C	Methylmalonic aciduria, cblA type [RCV001371443]	uncertain significance	4	145642489	145642489	Human	1	name
127233489	CV1093040	single nucleotide variant	NM_172250.3(MMAA):c.440-7A>C	Methylmalonic aciduria, cblA type [RCV001421780]	likely benign	4	145642356	145642356	Human	1	name
127248856	CV1093041	single nucleotide variant	NM_172250.3(MMAA):c.734-9C>T	Methylmalonic aciduria, cblA type [RCV001425007]	likely benign	4	145651053	145651053	Human	1	name
127296686	CV1114591	single nucleotide variant	NM_172250.3(MMAA):c.734-9C>A	Methylmalonic aciduria, cblA type [RCV001460069]	likely benign	4	145651053	145651053	Human	1	name
152056616	CV1523068	single nucleotide variant	NM_172250.3(MMAA):c.562+7A>T	Methylmalonic aciduria, cblA type [RCV002167518]	likely benign	4	145642492	145642492	Human	1	name
152127284	CV1545010	single nucleotide variant	NM_172250.3(MMAA):c.969+9G>A	Methylmalonic aciduria, cblA type [RCV002155046]	likely benign	4	145654152	145654152	Human	1	name
152026325	CV1550232	single nucleotide variant	NM_172250.3(MMAA):c.970-4A>T	Methylmalonic aciduria, cblA type [RCV002185115]	likely benign	4	145655143	145655143	Human	1	name
152067665	CV1566917	single nucleotide variant	NM_172250.3(MMAA):c.562+9G>A	Methylmalonic aciduria, cblA type [RCV002091149]	likely benign	4	145642494	145642494	Human	1	name
152061470	CV1611110	single nucleotide variant	NM_172250.3(MMAA):c.563-9A>G	Methylmalonic aciduria, cblA type [RCV002146826]	likely benign	4	145645977	145645977	Human	1	name
152123034	CV1613651	single nucleotide variant	NM_172250.3(MMAA):c.820-8C>G	Methylmalonic aciduria, cblA type [RCV002081823]	likely benign	4	145653986	145653986	Human	1	name
152133592	CV1651952	single nucleotide variant	NM_172250.3(MMAA):c.970-7T>C	Methylmalonic aciduria, cblA type [RCV002199648]	likely benign	4	145655140	145655140	Human	1	name
156029055	CV1893463	single nucleotide variant	NM_172250.3(MMAA):c.819+8T>C	Methylmalonic aciduria, cblA type [RCV003078011]	likely benign	4	145651155	145651155	Human	1	name
156364306	CV1934865	single nucleotide variant	NM_172250.3(MMAA):c.440-2A>G	Methylmalonic aciduria, cblA type [RCV002651851]\|not provided [RCV004765700]	likely pathogenic	4	145642361	145642361	Human	1	name
156394339	CV1984371	single nucleotide variant	NM_172250.3(MMAA):c.820-2A>G	Methylmalonic aciduria, cblA type [RCV002635315]	likely pathogenic	4	145653992	145653992	Human	1	name
156153266	CV2066703	single nucleotide variant	NM_172250.3(MMAA):c.820-7T>C	Methylmalonic aciduria, cblA type [RCV002850942]	likely benign	4	145653987	145653987	Human	1	name
156330851	CV2112635	single nucleotide variant	NM_172250.3(MMAA):c.562+8T>C	Methylmalonic aciduria, cblA type [RCV002938358]	likely benign	4	145642493	145642493	Human	1	name
10766713	CV216035	single nucleotide variant	NM_172250.3(MMAA):c.733+1G>A	Methylmalonic aciduria, cblA type [RCV000203316]\|not provided [RCV001729456]	pathogenic\|likely pathogenic	4	145646157	145646157	Human	1	name
156345684	CV2172580	single nucleotide variant	NM_172250.3(MMAA):c.439+9T>C	Methylmalonic aciduria, cblA type [RCV003030546]	likely benign	4	145639587	145639587	Human	1	name
156356877	CV2188949	single nucleotide variant	NM_172250.3(MMAA):c.970-5G>T	Methylmalonic aciduria, cblA type [RCV003048749]	likely benign	4	145655142	145655142	Human	1	name
11075181	CV227099	single nucleotide variant	NM_172250.3(MMAA):c.562+1G>A	Methylmalonic aciduria, cblA type [RCV000210831]	pathogenic\|likely pathogenic	4	145642486	145642486	Human	1	name
401946133	CV2832898	single nucleotide variant	NM_172250.3(MMAA):c.733+1G>T	Methylmalonic aciduria, cblA type [RCV003470131]	pathogenic\|likely pathogenic	4	145646157	145646157	Human	1	name
405123875	CV2874372	single nucleotide variant	NM_172250.3(MMAA):c.733+9G>A	Methylmalonic aciduria, cblA type [RCV003501260]	likely benign	4	145646165	145646165	Human	1	name
11650675	CV292334	single nucleotide variant	NM_172250.3(MMAA):c.*1779T>C	Methylmalonic aciduria, cblA type [RCV000294468]	uncertain significance	4	145657213	145657213	Human	1	name
11593491	CV292339	single nucleotide variant	NM_172250.3(MMAA):c.*1782A>G	Methylmalonic aciduria, cblA type [RCV000349346]	benign\|uncertain significance	4	145657216	145657216	Human	1	name
11594353	CV292346	single nucleotide variant	NM_172250.3(MMAA):c.*1952T>C	Methylmalonic aciduria, cblA type [RCV000358480]	likely benign\|uncertain significance	4	145657386	145657386	Human	1	name
11653165	CV292348	single nucleotide variant	NM_172250.3(MMAA):c.*2019A>G	Methylmalonic acidemia [RCV000309469]	uncertain significance	4	145657453	145657453	Human	2	name
11596950	CV292353	single nucleotide variant	NM_172250.3(MMAA):c.*2372T>A	Methylmalonic aciduria, cblA type [RCV000388423]	benign\|likely benign	4	145657806	145657806	Human	1	name
11647607	CV292360	single nucleotide variant	NM_172250.3(MMAA):c.*2378A>G	Methylmalonic aciduria, cblA type [RCV000277446]	uncertain significance	4	145657812	145657812	Human	1	name
11648263	CV292361	single nucleotide variant	NM_172250.3(MMAA):c.*2479G>A	Methylmalonic aciduria, cblA type [RCV000281105]	uncertain significance	4	145657913	145657913	Human	1	name
11592408	CV292365	single nucleotide variant	NM_172250.3(MMAA):c.*2608T>C	Methylmalonic aciduria, cblA type [RCV000338170]\|not provided [RCV004716155]	benign	4	145658042	145658042	Human	1	name
11654412	CV292367	deletion	NM_172250.3(MMAA):c.*3356del	Methylmalonic acidemia [RCV000317509]	uncertain significance	4	145658786	145658786	Human	2	name
11596157	CV292372	single nucleotide variant	NM_172250.3(MMAA):c.*3621G>A	Methylmalonic aciduria, cblA type [RCV000379179]\|not provided [RCV004717503]	benign\|likely benign	4	145659055	145659055	Human	1	name
11663494	CV293762	single nucleotide variant	NM_172250.3(MMAA):c.*1838G>A	Methylmalonic acidemia [RCV000396671]	uncertain significance	4	145657272	145657272	Human	2	name
11652592	CV293773	duplication	NM_172250.3(MMAA):c.*1952dup	Methylmalonic acidemia [RCV000306057]	likely benign	4	145657377	145657378	Human	2	name
11591209	CV293789	single nucleotide variant	NM_172250.3(MMAA):c.*2364A>G	Methylmalonic aciduria, cblA type [RCV000326917]\|not provided [RCV004710977]	likely benign\|uncertain significance	4	145657798	145657798	Human	1	name
11655999	CV293791	single nucleotide variant	NM_172250.3(MMAA):c.*2445A>C	Methylmalonic aciduria, cblA type [RCV000330215]	uncertain significance	4	145657879	145657879	Human	1	name
11583955	CV293793	single nucleotide variant	NM_172250.3(MMAA):c.*3035A>C	Methylmalonic aciduria, cblA type [RCV000270306]	uncertain significance	4	145658469	145658469	Human	1	name
11592496	CV293795	single nucleotide variant	NM_172250.3(MMAA):c.*3824C>A	Methylmalonic aciduria, cblA type [RCV000339515]\|not provided [RCV004716157]	benign\|likely benign	4	145659258	145659258	Human	1	name
11597535	CV293796	single nucleotide variant	NM_172250.3(MMAA):c.*4336A>G	Methylmalonic aciduria, cblA type [RCV000395169]	benign\|likely benign	4	145659770	145659770	Human	1	name
11663847	CV297061	single nucleotide variant	NM_172250.3(MMAA):c.*1924T>C	Methylmalonic aciduria, cblA type [RCV000400116]	uncertain significance	4	145657358	145657358	Human	1	name
11595059	CV297063	single nucleotide variant	NM_172250.3(MMAA):c.*2142T>C	Methylmalonic aciduria, cblA type [RCV000366400]\|not provided [RCV004716154]	benign\|likely benign	4	145657576	145657576	Human	1	name
11662538	CV297064	single nucleotide variant	NM_172250.3(MMAA):c.*2471G>A	Methylmalonic aciduria, cblA type [RCV000387128]	uncertain significance	4	145657905	145657905	Human	1	name
11657457	CV297069	single nucleotide variant	NM_172250.3(MMAA):c.*2627A>G	Methylmalonic aciduria, cblA type [RCV000341605]	uncertain significance	4	145658061	145658061	Human	1	name
11597690	CV297073	single nucleotide variant	NM_172250.3(MMAA):c.*2658G>A	Methylmalonic aciduria, cblA type [RCV000397023]\|not provided [RCV004717501]	benign\|likely benign	4	145658092	145658092	Human	1	name
11592644	CV297074	single nucleotide variant	NM_172250.3(MMAA):c.*2807C>T	Methylmalonic aciduria, cblA type [RCV000340652]	uncertain significance	4	145658241	145658241	Human	1	name
11597689	CV297075	single nucleotide variant	NM_172250.3(MMAA):c.*2808G>A	Methylmalonic aciduria, cblA type [RCV000397021]	uncertain significance	4	145658242	145658242	Human	1	name
11659904	CV297077	single nucleotide variant	NM_172250.3(MMAA):c.*2903C>T	Methylmalonic aciduria, cblA type [RCV000362155]	uncertain significance	4	145658337	145658337	Human	1	name
11653891	CV297080	single nucleotide variant	NM_172250.3(MMAA):c.*3125C>T	Methylmalonic aciduria, cblA type [RCV000313664]	uncertain significance	4	145658559	145658559	Human	1	name
11660808	CV297092	single nucleotide variant	NM_172250.3(MMAA):c.*3222T>C	Methylmalonic aciduria, cblA type [RCV000370632]	uncertain significance	4	145658656	145658656	Human	1	name
11656105	CV297093	deletion	NM_172250.3(MMAA):c.*3257del	Methylmalonic acidemia [RCV000331076]	uncertain significance	4	145658691	145658691	Human	2	name
11661175	CV297097	deletion	NM_172250.3(MMAA):c.*3274del	Methylmalonic acidemia [RCV000374061]	likely benign	4	145658692	145658692	Human	2	name
11582437	CV297099	single nucleotide variant	NM_172250.3(MMAA):c.*3285G>A	Methylmalonic aciduria, cblA type [RCV000259974]\|not provided [RCV004710979]	likely benign\|uncertain significance	4	145658719	145658719	Human	1	name
11596036	CV297101	single nucleotide variant	NM_172250.3(MMAA):c.*4103G>A	Methylmalonic aciduria, cblA type [RCV000377819]	uncertain significance	4	145659537	145659537	Human	1	name
11593369	CV297108	single nucleotide variant	NM_172250.3(MMAA):c.*4228T>C	Methylmalonic aciduria, cblA type [RCV000347808]	uncertain significance	4	145659662	145659662	Human	1	name
11596454	CV297123	single nucleotide variant	NM_172250.3(MMAA):c.*1227A>T	Methylmalonic aciduria, cblA type [RCV000382743]	uncertain significance	4	145656661	145656661	Human	1	name
11586486	CV297124	single nucleotide variant	NM_172250.3(MMAA):c.*1284G>A	Methylmalonic aciduria, cblA type [RCV000288353]	uncertain significance	4	145656718	145656718	Human	1	name
11593838	CV297125	single nucleotide variant	NM_172250.3(MMAA):c.*1584A>G	Methylmalonic aciduria, cblA type [RCV000352802]	uncertain significance	4	145657018	145657018	Human	1	name
11589108	CV297126	single nucleotide variant	NM_172250.3(MMAA):c.*4533C>T	Methylmalonic aciduria, cblA type [RCV000308417]	uncertain significance	4	145659967	145659967	Human	1	name
11597675	CV297129	single nucleotide variant	NM_172250.3(MMAA):c.*1610C>T	Methylmalonic aciduria, cblA type [RCV000396669]	uncertain significance	4	145657044	145657044	Human	1	name
11593847	CV297135	single nucleotide variant	NM_172250.3(MMAA):c.*1918G>A	Methylmalonic aciduria, cblA type [RCV000352991]	uncertain significance	4	145657352	145657352	Human	1	name
11583330	CV297154	single nucleotide variant	NM_172250.3(MMAA):c.*1988A>T	Methylmalonic aciduria, cblA type [RCV000266029]	uncertain significance	4	145657422	145657422	Human	1	name
11646147	CV297158	single nucleotide variant	NM_172250.3(MMAA):c.*2343A>G	Methylmalonic aciduria, cblA type [RCV000269391]	uncertain significance	4	145657777	145657777	Human	1	name
11660932	CV297169	single nucleotide variant	NM_172250.3(MMAA):c.*2617C>A	Methylmalonic acidemia [RCV000371774]	uncertain significance	4	145658051	145658051	Human	2	name
11588325	CV297183	single nucleotide variant	NM_172250.3(MMAA):c.*2768A>T	Methylmalonic aciduria, cblA type [RCV000302001]\|not provided [RCV004717502]	benign	4	145658202	145658202	Human	1	name
11589307	CV297184	single nucleotide variant	NM_172250.3(MMAA):c.*2866A>G	Methylmalonic aciduria, cblA type [RCV000309727]\|not provided [RCV004716156]	benign	4	145658300	145658300	Human	1	name
11584409	CV297185	single nucleotide variant	NM_172250.3(MMAA):c.*3254A>C	Methylmalonic aciduria, cblA type [RCV000273755]\|not provided [RCV004710978]	likely benign\|uncertain significance	4	145658688	145658688	Human	1	name
11649378	CV297188	single nucleotide variant	NM_172250.3(MMAA):c.*3801A>G	Methylmalonic aciduria, cblA type [RCV000287106]	uncertain significance	4	145659235	145659235	Human	1	name
11586833	CV297190	deletion	NM_172250.3(MMAA):c.*4119del	Methylmalonic acidemia [RCV000290545]	likely benign	4	145659553	145659553	Human	2	name
405020216	CV2977788	single nucleotide variant	NM_172250.3(MMAA):c.563-4T>A	Methylmalonic aciduria, cblA type [RCV003607940]	likely benign	4	145645982	145645982	Human	1	name
405025104	CV3022030	single nucleotide variant	NM_172250.3(MMAA):c.562+2T>C	Methylmalonic aciduria, cblA type [RCV003608367]	likely pathogenic	4	145642487	145642487	Human	1	name
405013312	CV3065779	duplication	NM_172250.3(MMAA):c.970-3dup	Methylmalonic aciduria, cblA type [RCV003607068]	likely benign	4	145655143	145655144	Human	1	name
402523675	CV3123581	single nucleotide variant	NM_172250.3(MMAA):c.440-9C>A	Methylmalonic aciduria, cblA type [RCV003825007]	likely benign	4	145642354	145642354	Human	1	name
597653746	CV3724565	single nucleotide variant	NM_172250.3(MMAA):c.439+2T>A	Methylmalonic aciduria, cblA type [RCV005027142]	likely pathogenic	4	145639580	145639580	Human	1	name
597653754	CV3724566	single nucleotide variant	NM_172250.3(MMAA):c.439+2T>C	Methylmalonic aciduria, cblA type [RCV005027143]	likely pathogenic	4	145639580	145639580	Human	1	name
597653820	CV3724579	single nucleotide variant	NM_172250.3(MMAA):c.970-3T>C	Methylmalonic aciduria, cblA type [RCV005027151]	uncertain significance	4	145655144	145655144	Human	1	name
13436709	CV433694	single nucleotide variant	NM_172250.3(MMAA):c.970-5G>A	Methylmalonic aciduria, cblA type [RCV000942823]\|not provided [RCV004711141]\|not specified [RCV000507631]	likely benign	4	145655142	145655142	Human	1	name
13442518	CV434438	single nucleotide variant	NM_172250.3(MMAA):c.820-1G>A	Methylmalonic aciduria, cblA type [RCV000509022]	pathogenic	4	145653993	145653993	Human	1	name
13533433	CV500918	single nucleotide variant	NM_172250.3(MMAA):c.970-6C>T	Methylmalonic aciduria, cblA type [RCV001465776]\|not specified [RCV000601661]	likely benign	4	145655141	145655141	Human	1	name
13785796	CV543333	single nucleotide variant	NM_172250.3(MMAA):c.439+1G>A	Methylmalonic aciduria, cblA type [RCV000674400]	likely pathogenic	4	145639579	145639579	Human	1	name
13785636	CV543415	single nucleotide variant	NM_172250.3(MMAA):c.562+1G>T	Methylmalonic aciduria, cblA type [RCV000669403]	likely pathogenic	4	145642486	145642486	Human	1	name
13785699	CV543423	single nucleotide variant	NM_172250.3(MMAA):c.970-2A>T	Methylmalonic aciduria, cblA type [RCV000671130]	pathogenic	4	145655145	145655145	Human	1	name
15201959	CV774922	single nucleotide variant	NM_172250.3(MMAA):c.440-5C>T	Methylmalonic aciduria, cblA type [RCV000935812]	likely benign	4	145642358	145642358	Human	1	name
15143800	CV774925	single nucleotide variant	NM_172250.3(MMAA):c.734-8A>G	Methylmalonic aciduria, cblA type [RCV000944305]	likely benign	4	145651054	145651054	Human	1	name
26888582	CV850968	single nucleotide variant	NM_172250.3(MMAA):c.820-1G>C	Methylmalonic aciduria, cblA type [RCV001052056]	likely pathogenic	4	145653993	145653993	Human	1	name
28882750	CV890157	single nucleotide variant	NM_172250.3(MMAA):c.*1149C>G	Methylmalonic aciduria, cblA type [RCV001150063]	uncertain significance	4	145656583	145656583	Human	1	name
28882757	CV890158	single nucleotide variant	NM_172250.3(MMAA):c.*1221A>G	Methylmalonic aciduria, cblA type [RCV001150064]	uncertain significance	4	145656655	145656655	Human	1	name
28903041	CV890159	single nucleotide variant	NM_172250.3(MMAA):c.*1273C>T	Methylmalonic aciduria, cblA type [RCV001143846]	uncertain significance	4	145656707	145656707	Human	1	name
28903043	CV890160	single nucleotide variant	NM_172250.3(MMAA):c.*1425C>T	Methylmalonic aciduria, cblA type [RCV001143847]	uncertain significance	4	145656859	145656859	Human	1	name
28903044	CV890161	single nucleotide variant	NM_172250.3(MMAA):c.*1510C>T	Methylmalonic aciduria, cblA type [RCV001143848]	uncertain significance	4	145656944	145656944	Human	1	name
28903048	CV890162	single nucleotide variant	NM_172250.3(MMAA):c.*1558C>G	Methylmalonic aciduria, cblA type [RCV001143849]	uncertain significance	4	145656992	145656992	Human	1	name
28871218	CV890163	single nucleotide variant	NM_172250.3(MMAA):c.*1819C>G	Methylmalonic aciduria, cblA type [RCV001145744]	uncertain significance	4	145657253	145657253	Human	1	name
28871221	CV890164	single nucleotide variant	NM_172250.3(MMAA):c.*1940T>C	Methylmalonic aciduria, cblA type [RCV001145745]	uncertain significance	4	145657374	145657374	Human	1	name
28871223	CV890165	single nucleotide variant	NM_172250.3(MMAA):c.*1966C>T	Methylmalonic aciduria, cblA type [RCV001145746]	uncertain significance	4	145657400	145657400	Human	1	name
28878175	CV890166	single nucleotide variant	NM_172250.3(MMAA):c.*2139A>G	Methylmalonic aciduria, cblA type [RCV001148599]	uncertain significance	4	145657573	145657573	Human	1	name
28878178	CV890167	single nucleotide variant	NM_172250.3(MMAA):c.*2444C>G	Methylmalonic aciduria, cblA type [RCV001148600]	uncertain significance	4	145657878	145657878	Human	1	name
28883166	CV890168	single nucleotide variant	NM_172250.3(MMAA):c.*2448T>C	Methylmalonic aciduria, cblA type [RCV001150179]	uncertain significance	4	145657882	145657882	Human	1	name
28883170	CV890169	single nucleotide variant	NM_172250.3(MMAA):c.*2479G>T	Methylmalonic aciduria, cblA type [RCV001150180]	uncertain significance	4	145657913	145657913	Human	1	name
28883175	CV890170	single nucleotide variant	NM_172250.3(MMAA):c.*2562C>T	Methylmalonic aciduria, cblA type [RCV001150181]	uncertain significance	4	145657996	145657996	Human	1	name
28903258	CV890171	single nucleotide variant	NM_172250.3(MMAA):c.*2645C>T	Methylmalonic aciduria, cblA type [RCV001143954]	uncertain significance	4	145658079	145658079	Human	1	name
28903262	CV890172	single nucleotide variant	NM_172250.3(MMAA):c.*2646G>A	Methylmalonic aciduria, cblA type [RCV001143955]	uncertain significance	4	145658080	145658080	Human	1	name
28871449	CV890173	single nucleotide variant	NM_172250.3(MMAA):c.*3087A>G	Methylmalonic aciduria, cblA type [RCV001145854]	uncertain significance	4	145658521	145658521	Human	1	name
28871451	CV890174	single nucleotide variant	NM_172250.3(MMAA):c.*3213C>T	Methylmalonic aciduria, cblA type [RCV001145855]	uncertain significance	4	145658647	145658647	Human	1	name
28878564	CV890175	single nucleotide variant	NM_172250.3(MMAA):c.*3325C>T	Methylmalonic aciduria, cblA type [RCV001148724]	uncertain significance	4	145658759	145658759	Human	1	name
28878569	CV890176	single nucleotide variant	NM_172250.3(MMAA):c.*3385C>T	Methylmalonic aciduria, cblA type [RCV001148725]	uncertain significance	4	145658819	145658819	Human	1	name
28878573	CV890177	single nucleotide variant	NM_172250.3(MMAA):c.*3703T>C	Methylmalonic aciduria, cblA type [RCV001148726]	uncertain significance	4	145659137	145659137	Human	1	name
28878576	CV890178	single nucleotide variant	NM_172250.3(MMAA):c.*3797A>G	Methylmalonic aciduria, cblA type [RCV001148727]	uncertain significance	4	145659231	145659231	Human	1	name
28883534	CV890179	single nucleotide variant	NM_172250.3(MMAA):c.*3880G>A	Methylmalonic aciduria, cblA type [RCV001150285]	uncertain significance	4	145659314	145659314	Human	1	name
28883538	CV890180	single nucleotide variant	NM_172250.3(MMAA):c.*3934C>G	Methylmalonic aciduria, cblA type [RCV001150286]	uncertain significance	4	145659368	145659368	Human	1	name
28883542	CV890181	single nucleotide variant	NM_172250.3(MMAA):c.*4044T>C	Methylmalonic aciduria, cblA type [RCV001150287]	uncertain significance	4	145659478	145659478	Human	1	name
28883545	CV890182	single nucleotide variant	NM_172250.3(MMAA):c.*4200G>T	Methylmalonic aciduria, cblA type [RCV001150288]	uncertain significance	4	145659634	145659634	Human	1	name
28883550	CV890183	single nucleotide variant	NM_172250.3(MMAA):c.*4324G>A	Methylmalonic aciduria, cblA type [RCV001150289]	uncertain significance	4	145659758	145659758	Human	1	name
28883556	CV890184	single nucleotide variant	NM_172250.3(MMAA):c.*4326A>T	Methylmalonic aciduria, cblA type [RCV001150290]	uncertain significance	4	145659760	145659760	Human	1	name
28903454	CV890185	single nucleotide variant	NM_172250.3(MMAA):c.*4457A>G	Methylmalonic aciduria, cblA type [RCV001144055]	uncertain significance	4	145659891	145659891	Human	1	name
28903457	CV890186	single nucleotide variant	NM_172250.3(MMAA):c.*4504C>A	Methylmalonic aciduria, cblA type [RCV001144056]	uncertain significance	4	145659938	145659938	Human	1	name
28903461	CV890187	single nucleotide variant	NM_172250.3(MMAA):c.*4539T>G	Methylmalonic aciduria, cblA type [RCV001144057]	uncertain significance	4	145659973	145659973	Human	1	name
28877560	CV891751	single nucleotide variant	NM_172250.3(MMAA):c.440-6C>T	Inborn genetic diseases [RCV002557178]\|Methylmalonic aciduria, cblA type [RCV001148381]	conflicting interpretations of pathogenicity\|uncertain significance	4	145642357	145642357	Human	2	name
40905126	CV978028	single nucleotide variant	NM_172250.3(MMAA):c.440-4G>A	Inborn genetic diseases [RCV004035468]\|Methylmalonic aciduria, cblA type [RCV001278256]	likely benign\|uncertain significance	4	145642359	145642359	Human	2	name
40905128	CV978030	single nucleotide variant	NM_172250.3(MMAA):c.734-7A>G	Methylmalonic aciduria, cblA type [RCV001278258]	uncertain significance	4	145651055	145651055	Human	1	name
127296773	CV1114593	single nucleotide variant	NM_172250.3(MMAA):c.819+10T>A	Methylmalonic aciduria, cblA type [RCV001477453]	likely benign	4	145651157	145651157	Human	1	name
127321374	CV1135486	single nucleotide variant	NM_172250.3(MMAA):c.969+10C>T	Methylmalonic aciduria, cblA type [RCV001504738]	likely benign	4	145654153	145654153	Human	1	name
127287628	CV1163138	single nucleotide variant	NM_172250.3(MMAA):c.734-74G>A	Methylmalonic aciduria, cblA type [RCV001527525]\|not provided [RCV001673115]	benign	4	145650988	145650988	Human	1	name
150504484	CV1223959	single nucleotide variant	NM_172250.3(MMAA):c.563-71C>G	not provided [RCV001621608]	benign	4	145645915	145645915	Human		name
150460652	CV1231371	single nucleotide variant	NM_172250.3(MMAA):c.-66+52C>T	not provided [RCV001640936]	benign	4	145619459	145619459	Human		name
151233512	CV1317106	single nucleotide variant	NM_172250.3(MMAA):c.-66+36G>C	not provided [RCV001786927]	likely benign	4	145619443	145619443	Human		name
151882989	CV1431870	single nucleotide variant	NM_172250.3(MMAA):c.562+11C>T	Methylmalonic aciduria, cblA type [RCV001999956]	likely benign	4	145642496	145642496	Human	1	name
152027599	CV1520903	single nucleotide variant	NM_172250.3(MMAA):c.563-12T>C	Methylmalonic aciduria, cblA type [RCV002085183]	likely benign	4	145645974	145645974	Human	1	name
152043808	CV1587557	single nucleotide variant	NM_172250.3(MMAA):c.440-17A>T	Methylmalonic aciduria, cblA type [RCV002088307]	likely benign	4	145642346	145642346	Human	1	name
152027402	CV1626905	single nucleotide variant	NM_172250.3(MMAA):c.820-10A>C	Methylmalonic aciduria, cblA type [RCV002185487]	likely benign	4	145653984	145653984	Human	1	name
156416277	CV1976504	duplication	NM_172250.3(MMAA):c.440-10dup	Methylmalonic aciduria, cblA type [RCV002589616]	likely benign	4	145642350	145642351	Human	1	name
156100576	CV2051088	single nucleotide variant	NM_172250.3(MMAA):c.970-19G>T	Methylmalonic aciduria, cblA type [RCV002824543]	likely benign	4	145655128	145655128	Human	1	name
405116591	CV2924791	single nucleotide variant	NM_172250.3(MMAA):c.820-15T>G	Methylmalonic aciduria, cblA type [RCV003500208]	likely benign	4	145653979	145653979	Human	1	name
11594952	CV293750	single nucleotide variant	NM_172250.3(MMAA):c.-66+10G>C	Methylmalonic aciduria, cblA type [RCV000365112]	uncertain significance	4	145619417	145619417	Human	1	name
405017367	CV2938362	single nucleotide variant	NM_172250.3(MMAA):c.969+20G>T	Methylmalonic aciduria, cblA type [RCV003607665]	likely benign	4	145654163	145654163	Human	1	name
405017112	CV2940511	single nucleotide variant	NM_172250.3(MMAA):c.819+11T>G	Methylmalonic aciduria, cblA type [RCV003607642]	likely benign	4	145651158	145651158	Human	1	name
405018399	CV2952041	deletion	NM_172250.3(MMAA):c.439+14del	Methylmalonic aciduria, cblA type [RCV003607741]	likely benign	4	145639592	145639592	Human	1	name
405018613	CV2956328	single nucleotide variant	NM_172250.3(MMAA):c.439+16G>C	Methylmalonic aciduria, cblA type [RCV003607760]	likely benign	4	145639594	145639594	Human	1	name
405018051	CV2960949	single nucleotide variant	NM_172250.3(MMAA):c.440-19A>C	Methylmalonic aciduria, cblA type [RCV003607707]	likely benign	4	145642344	145642344	Human	1	name
405021463	CV2990085	single nucleotide variant	NM_172250.3(MMAA):c.734-20G>A	Methylmalonic aciduria, cblA type [RCV003608040]	likely benign	4	145651042	145651042	Human	1	name
405023280	CV3004183	deletion	NM_172250.3(MMAA):c.819+13del	Methylmalonic aciduria, cblA type [RCV003608208]	likely benign	4	145651160	145651160	Human	1	name
405025153	CV3018644	single nucleotide variant	NM_172250.3(MMAA):c.734-13T>C	Methylmalonic aciduria, cblA type [RCV003608372]	likely benign	4	145651049	145651049	Human	1	name
405026322	CV3032329	single nucleotide variant	NM_172250.3(MMAA):c.563-17G>A	Methylmalonic aciduria, cblA type [RCV003608470]	likely benign	4	145645969	145645969	Human	1	name
405027315	CV3044609	single nucleotide variant	NM_172250.3(MMAA):c.820-13C>G	Methylmalonic aciduria, cblA type [RCV003608567]	likely benign	4	145653981	145653981	Human	1	name
405027203	CV3050090	single nucleotide variant	NM_172250.3(MMAA):c.969+15A>G	Methylmalonic aciduria, cblA type [RCV003608537]	likely benign	4	145654158	145654158	Human	1	name
405027964	CV3056795	single nucleotide variant	NM_172250.3(MMAA):c.439+12T>G	Methylmalonic aciduria, cblA type [RCV003608617]	likely benign	4	145639590	145639590	Human	1	name
405028665	CV3068239	single nucleotide variant	NM_172250.3(MMAA):c.969+18C>T	Methylmalonic aciduria, cblA type [RCV003608648]	likely benign	4	145654161	145654161	Human	1	name
405013701	CV3079122	single nucleotide variant	NM_172250.3(MMAA):c.969+15A>C	Methylmalonic aciduria, cblA type [RCV003607110]	likely benign	4	145654158	145654158	Human	1	name
405118453	CV3116088	single nucleotide variant	NM_172250.3(MMAA):c.733+16T>G	Methylmalonic aciduria, cblA type [RCV003814578]	likely benign	4	145646172	145646172	Human	1	name
405108653	CV3136639	single nucleotide variant	NM_172250.3(MMAA):c.734-15G>A	Methylmalonic aciduria, cblA type [RCV003835793]	likely benign	4	145651047	145651047	Human	1	name
405214074	CV3143079	duplication	NM_172250.3(MMAA):c.819+19dup	Methylmalonic aciduria, cblA type [RCV003846242]	benign	4	145651160	145651161	Human	1	name
405191687	CV3149770	single nucleotide variant	NM_172250.3(MMAA):c.439+14G>T	Methylmalonic aciduria, cblA type [RCV003843496]	likely benign	4	145639592	145639592	Human	1	name
405048919	CV3150809	single nucleotide variant	NM_172250.3(MMAA):c.733+12A>G	Methylmalonic aciduria, cblA type [RCV003849413]	likely benign	4	145646168	145646168	Human	1	name
597837933	CV3740250	single nucleotide variant	NM_172250.3(MMAA):c.562+18T>G	Methylmalonic aciduria, cblA type [RCV005064278]	likely benign	4	145642503	145642503	Human	1	name
597943788	CV3754883	single nucleotide variant	NM_172250.3(MMAA):c.562+17C>A	Methylmalonic aciduria, cblA type [RCV005078072]	likely benign	4	145642502	145642502	Human	1	name
597844267	CV3776705	deletion	NM_172250.3(MMAA):c.819+24del	Methylmalonic aciduria, cblA type [RCV005119561]	benign	4	145651167	145651167	Human	1	name
597883267	CV3807869	single nucleotide variant	NM_172250.3(MMAA):c.820-18T>C	Methylmalonic aciduria, cblA type [RCV005158248]	likely benign	4	145653976	145653976	Human	1	name
13528146	CV501081	single nucleotide variant	NM_172250.3(MMAA):c.733+13T>C	Methylmalonic aciduria, cblA type [RCV003607338]\|not provided [RCV001719084]	likely benign	4	145646169	145646169	Human	1	name
150331707	CV1171213	single nucleotide variant	NM_172250.3(MMAA):c.439+108A>G	not provided [RCV001538742]	benign	4	145639686	145639686	Human		name
150412242	CV1176438	single nucleotide variant	NM_172250.3(MMAA):c.820-139G>A	not provided [RCV001547467]	likely benign	4	145653855	145653855	Human		name
150514262	CV1210942	single nucleotide variant	NM_172250.3(MMAA):c.820-101T>C	not provided [RCV001598985]	benign	4	145653893	145653893	Human		name
150502644	CV1212284	single nucleotide variant	NM_172250.3(MMAA):c.819+252C>T	not provided [RCV001595158]	benign	4	145651399	145651399	Human		name
150463019	CV1214727	single nucleotide variant	NM_172250.3(MMAA):c.-65-249A>C	not provided [RCV001613720]	benign	4	145638826	145638826	Human		name
150453774	CV1231873	single nucleotide variant	NM_172250.3(MMAA):c.439+262C>T	not provided [RCV001648180]	benign	4	145639840	145639840	Human		name
150466323	CV1240389	single nucleotide variant	NM_172250.3(MMAA):c.970-216A>T	not provided [RCV001650150]	benign	4	145654931	145654931	Human	2	name
150466323	CV1240389	single nucleotide variant	NM_172250.3(MMAA):c.970-216A>T	not provided [RCV001650150]	benign	4	145654931	145654932	Human	2	name
150507038	CV1258117	single nucleotide variant	NM_172250.3(MMAA):c.819+168C>G	not provided [RCV001678334]	benign	4	145651315	145651315	Human		name
150479941	CV1282437	single nucleotide variant	NM_172250.3(MMAA):c.439+178A>G	not provided [RCV001714550]	benign	4	145639756	145639756	Human		name
14705658	CV660188	single nucleotide variant	NM_172250.3(MMAA):c.733+276T>G	not provided [RCV000826264]	benign	4	145646432	145646432	Human		name
14705660	CV660553	single nucleotide variant	NM_172250.3(MMAA):c.820-169T>C	not provided [RCV000826265]	benign	4	145653825	145653825	Human		name
156434435	CV2402895	single nucleotide variant	NM_172250.3(MMAA):c.-66+7915G>A	not provided [RCV003126333]	uncertain significance	4	145627322	145627322	Human		name
401950107	CV2832905	deletion	NM_172250.3(MMAA):c.963_969+4del	Methylmalonic aciduria, cblA type [RCV003476510]	pathogenic\|likely pathogenic	4	145654135	145654145	Human	1	name
11651258	CV292341	deletion	NM_172250.3(MMAA):c.1897_1901del	Methylmalonic acidemia [RCV000298074]	uncertain significance	4	145657329	145657333	Human	2	name
11585249	CV297067	deletion	NM_172250.3(MMAA):c.2622_2625del	Methylmalonic acidemia [RCV000279524]	likely benign	4	145658053	145658056	Human	2	name
405226469	CV3142529	single nucleotide variant	NM_172250.3(MMAA):c.6C>T (p.Pro2=)	Methylmalonic aciduria, cblA type [RCV003848068]	likely benign	4	145639145	145639145	Human	1	name
13785502	CV543336	deletion	NM_172250.3(MMAA):c.439+4_439+7del	Methylmalonic aciduria, cblA type [RCV000664553]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	4	145639579	145639582	Human	1	name
156317624	CV2018108	single nucleotide variant	NM_172250.3(MMAA):c.21T>C (p.His7=)	Methylmalonic aciduria, cblA type [RCV002671993]	likely benign	4	145639160	145639160	Human	1	name
15116221	CV734475	single nucleotide variant	NM_172250.3(MMAA):c.15A>G (p.Leu5=)	Methylmalonic aciduria, cblA type [RCV002539433]	likely benign	4	145639154	145639154	Human	1	name
127231263	CV1071429	single nucleotide variant	NM_172250.3(MMAA):c.78C>T (p.Phe26=)	Methylmalonic aciduria, cblA type [RCV001395211]	likely benign	4	145639217	145639217	Human	1	name
127314552	CV1135479	single nucleotide variant	NM_172250.3(MMAA):c.36C>T (p.Phe12=)	Methylmalonic aciduria, cblA type [RCV001502514]	likely benign	4	145639175	145639175	Human	1	name
127335862	CV1135480	single nucleotide variant	NM_172250.3(MMAA):c.39A>C (p.Leu13=)	Methylmalonic aciduria, cblA type [RCV001491758]	likely benign	4	145639178	145639178	Human	1	name
151800835	CV1439098	single nucleotide variant	NM_172250.3(MMAA):c.7A>G (p.Met3Val)	Inborn genetic diseases [RCV004641851]\|Methylmalonic aciduria, cblA type [RCV001990935]	uncertain significance	4	145639146	145639146	Human	2	name
152042370	CV1537961	single nucleotide variant	NM_172250.3(MMAA):c.99T>C (p.His33=)	Methylmalonic aciduria, cblA type [RCV002165857]	likely benign	4	145639238	145639238	Human	1	name
152120268	CV1576169	single nucleotide variant	NM_172250.3(MMAA):c.33T>C (p.His11=)	Methylmalonic aciduria, cblA type [RCV002197953]	likely benign	4	145639172	145639172	Human	1	name
152036443	CV1609804	single nucleotide variant	NM_172250.3(MMAA):c.81C>T (p.Ile27=)	Methylmalonic aciduria, cblA type [RCV002165020]	likely benign	4	145639220	145639220	Human	1	name
155971474	CV2079246	single nucleotide variant	NM_172250.3(MMAA):c.72C>T (p.Tyr24=)	Methylmalonic aciduria, cblA type [RCV002881508]	likely benign	4	145639211	145639211	Human	1	name
405121886	CV2861492	single nucleotide variant	NM_172250.3(MMAA):c.96T>A (p.Thr32=)	Methylmalonic aciduria, cblA type [RCV003500987]	likely benign	4	145639235	145639235	Human	1	name
405017336	CV2941461	single nucleotide variant	NM_172250.3(MMAA):c.54A>G (p.Arg18=)	Methylmalonic aciduria, cblA type [RCV003607662]	likely benign	4	145639193	145639193	Human	1	name
597878855	CV3806558	single nucleotide variant	NM_172250.3(MMAA):c.51A>G (p.Leu17=)	Methylmalonic aciduria, cblA type [RCV005154125]	likely benign	4	145639190	145639190	Human	1	name
13785565	CV543074	single nucleotide variant	NM_172250.3(MMAA):c.1A>G (p.Met1Val)	Methylmalonic aciduria, cblA type [RCV000666843]	likely pathogenic	4	145639140	145639140	Human	1	name
15128624	CV691510	single nucleotide variant	NM_172250.3(MMAA):c.57A>G (p.Ala19=)	MMAA-related disorder [RCV003967922]\|Methylmalonic aciduria, cblA type [RCV000875520]	likely benign	4	145639196	145639196	Human	1	name , trait , alternate_id
127249231	CV1071430	single nucleotide variant	NM_172250.3(MMAA):c.166C>T (p.Leu56=)	Methylmalonic aciduria, cblA type [RCV001399558]	likely benign	4	145639305	145639305	Human	1	name
127259659	CV1093037	single nucleotide variant	NM_172250.3(MMAA):c.258G>A (p.Val86=)	Methylmalonic aciduria, cblA type [RCV001438396]	likely benign	4	145639397	145639397	Human	1	name
127293210	CV1135481	single nucleotide variant	NM_172250.3(MMAA):c.159G>A (p.Lys53=)	Methylmalonic aciduria, cblA type [RCV001496699]	likely benign	4	145639298	145639298	Human	1	name
127335880	CV1135482	single nucleotide variant	NM_172250.3(MMAA):c.255T>C (p.Phe85=)	Methylmalonic aciduria, cblA type [RCV001491766]	likely benign	4	145639394	145639394	Human	1	name
152128103	CV1534193	single nucleotide variant	NM_172250.3(MMAA):c.168G>A (p.Leu56=)	Methylmalonic aciduria, cblA type [RCV002136586]	likely benign	4	145639307	145639307	Human	1	name
152117586	CV1541187	single nucleotide variant	NM_172250.3(MMAA):c.117A>G (p.Pro39=)	Methylmalonic aciduria, cblA type [RCV002197606]	likely benign	4	145639256	145639256	Human	1	name
152171039	CV1562067	single nucleotide variant	NM_172250.3(MMAA):c.288G>A (p.Gly96=)	Methylmalonic aciduria, cblA type [RCV002161969]	likely benign	4	145639427	145639427	Human	1	name
152057771	CV1567387	single nucleotide variant	NM_172250.3(MMAA):c.177T>C (p.Asp59=)	Methylmalonic aciduria, cblA type [RCV002146437]	likely benign	4	145639316	145639316	Human	1	name
152043979	CV1584117	single nucleotide variant	NM_172250.3(MMAA):c.150T>C (p.His50=)	Methylmalonic aciduria, cblA type [RCV002071379]	likely benign	4	145639289	145639289	Human	1	name
152130246	CV1584450	single nucleotide variant	NM_172250.3(MMAA):c.168G>T (p.Leu56=)	Methylmalonic aciduria, cblA type [RCV002082767]	likely benign	4	145639307	145639307	Human	1	name
152063082	CV1594617	single nucleotide variant	NM_172250.3(MMAA):c.204A>G (p.Gln68=)	Methylmalonic aciduria, cblA type [RCV002110366]	likely benign	4	145639343	145639343	Human	1	name
152136439	CV1624904	single nucleotide variant	NM_172250.3(MMAA):c.246G>A (p.Glu82=)	Methylmalonic aciduria, cblA type [RCV002177480]	likely benign	4	145639385	145639385	Human	1	name
152120085	CV1654910	single nucleotide variant	NM_172250.3(MMAA):c.240T>C (p.Asp80=)	Methylmalonic aciduria, cblA type [RCV002216658]	likely benign	4	145639379	145639379	Human	1	name
11551282	CV251332	single nucleotide variant	NM_172250.3(MMAA):c.138T>C (p.Ser46=)	Methylmalonic aciduria, cblA type [RCV000864287]\|not provided [RCV004715832]\|not specified [RCV000252835]	benign	4	145639277	145639277	Human	1	name
401946135	CV2832899	deletion	NM_172250.3(MMAA):c.54del (p.Ala19fs)	Methylmalonic aciduria, cblA type [RCV003470132]	pathogenic	4	145639193	145639193	Human	1	name
405123571	CV2873901	single nucleotide variant	NM_172250.3(MMAA):c.198T>C (p.Cys66=)	Methylmalonic aciduria, cblA type [RCV003501221]	likely benign	4	145639337	145639337	Human	1	name
405124994	CV2880431	single nucleotide variant	NM_172250.3(MMAA):c.201A>G (p.Val67=)	Methylmalonic aciduria, cblA type [RCV003501431]	likely benign	4	145639340	145639340	Human	1	name
405019880	CV2976702	single nucleotide variant	NM_172250.3(MMAA):c.264A>G (p.Lys88=)	Methylmalonic aciduria, cblA type [RCV003607904]	likely benign	4	145639403	145639403	Human	1	name
405025898	CV3030476	single nucleotide variant	NM_172250.3(MMAA):c.144A>G (p.Gly48=)	Methylmalonic aciduria, cblA type [RCV003608435]	likely benign	4	145639283	145639283	Human	1	name
405014259	CV3074725	single nucleotide variant	NM_172250.3(MMAA):c.186G>A (p.Lys62=)	Methylmalonic aciduria, cblA type [RCV003607164]	likely benign	4	145639325	145639325	Human	1	name
405014503	CV3080880	single nucleotide variant	NM_172250.3(MMAA):c.195A>G (p.Leu65=)	Methylmalonic aciduria, cblA type [RCV003607189]	likely benign	4	145639334	145639334	Human	1	name
405254860	CV3175576	single nucleotide variant	NM_172250.3(MMAA):c.156A>G (p.Thr52=)	Methylmalonic aciduria, cblA type [RCV003871843]	likely benign	4	145639295	145639295	Human	1	name
597881836	CV3826880	single nucleotide variant	NM_172250.3(MMAA):c.210C>T (p.Thr70=)	Methylmalonic aciduria, cblA type [RCV005156893]	likely benign	4	145639349	145639349	Human	1	name
15125368	CV691511	single nucleotide variant	NM_172250.3(MMAA):c.102C>T (p.Leu34=)	Methylmalonic aciduria, cblA type [RCV000874938]\|not provided [RCV003438535]	benign\|likely benign\|conflicting interpretations of pathogenicity	4	145639241	145639241	Human	1	name
15130320	CV764328	single nucleotide variant	NM_172250.3(MMAA):c.129G>A (p.Pro43=)	Methylmalonic aciduria, cblA type [RCV001273687]	likely benign\|uncertain significance	4	145639268	145639268	Human	1	name
15098563	CV764329	single nucleotide variant	NM_172250.3(MMAA):c.169C>T (p.Leu57=)	not provided [RCV000936305]	likely benign	4	145639308	145639308	Human		name
15107426	CV764330	single nucleotide variant	NM_172250.3(MMAA):c.222C>T (p.His74=)	Methylmalonic aciduria, cblA type [RCV001477351]	likely benign	4	145639361	145639361	Human	1	name
127265072	CV1071431	single nucleotide variant	NM_172250.3(MMAA):c.363G>C (p.Val121=)	Methylmalonic aciduria, cblA type [RCV001403478]	likely benign	4	145639502	145639502	Human	1	name
127230799	CV1071432	single nucleotide variant	NM_172250.3(MMAA):c.702G>A (p.Ala234=)	Methylmalonic aciduria, cblA type [RCV001394926]	likely benign	4	145646125	145646125	Human	1	name
127255378	CV1071433	single nucleotide variant	NM_172250.3(MMAA):c.771T>C (p.Val257=)	Methylmalonic aciduria, cblA type [RCV001418730]	likely benign	4	145651099	145651099	Human	1	name
127283402	CV1071434	single nucleotide variant	NM_172250.3(MMAA):c.840C>T (p.Ile280=)	Methylmalonic aciduria, cblA type [RCV001411771]	likely benign	4	145654014	145654014	Human	1	name
127238795	CV1071435	single nucleotide variant	NM_172250.3(MMAA):c.972A>G (p.Val324=)	Methylmalonic aciduria, cblA type [RCV001392537]	likely benign	4	145655149	145655149	Human	1	name
127273848	CV1093038	single nucleotide variant	NM_172250.3(MMAA):c.336C>T (p.His112=)	Methylmalonic aciduria, cblA type [RCV001442715]	likely benign	4	145639475	145639475	Human	1	name
127280656	CV1093039	single nucleotide variant	NM_172250.3(MMAA):c.378A>G (p.Val126=)	MMAA-related disorder [RCV003965874]\|Methylmalonic aciduria, cblA type [RCV001446632]	likely benign	4	145639517	145639517	Human	1	name , trait , alternate_id
127336607	CV1114592	single nucleotide variant	NM_172250.3(MMAA):c.756T>C (p.Ala252=)	Methylmalonic aciduria, cblA type [RCV001475084]	likely benign	4	145651084	145651084	Human	1	name
127300193	CV1114594	single nucleotide variant	NM_172250.3(MMAA):c.933A>G (p.Lys311=)	Methylmalonic aciduria, cblA type [RCV001478370]	likely benign	4	145654107	145654107	Human	1	name
127299228	CV1135483	single nucleotide variant	NM_172250.3(MMAA):c.342G>A (p.Arg114=)	Methylmalonic aciduria, cblA type [RCV001498253]	likely benign	4	145639481	145639481	Human	1	name
127291886	CV1135484	single nucleotide variant	NM_172250.3(MMAA):c.585C>T (p.Thr195=)	MMAA-related disorder [RCV003983916]\|Methylmalonic aciduria, cblA type [RCV001496386]	likely benign	4	145646008	145646008	Human	1	name , trait , alternate_id
127313083	CV1135485	single nucleotide variant	NM_172250.3(MMAA):c.942C>A (p.Arg314=)	Methylmalonic aciduria, cblA type [RCV001502079]	likely benign	4	145654116	145654116	Human	1	name
151851671	CV1362240	single nucleotide variant	NM_172250.3(MMAA):c.65G>A (p.Arg22Gln)	Methylmalonic aciduria, cblA type [RCV001979024]	uncertain significance	4	145639204	145639204	Human	1	name
8691974	CV141940	single nucleotide variant	NM_172250.3(MMAA):c.747G>A (p.Ser249=)	Methylmalonic aciduria, cblA type [RCV000600406]\|not provided [RCV004715717]\|not specified [RCV000126788]	benign\|likely benign	4	145651075	145651075	Human	1	name
152037916	CV1524990	single nucleotide variant	NM_172250.3(MMAA):c.414A>G (p.Lys138=)	Methylmalonic aciduria, cblA type [RCV002165250]	likely benign	4	145639553	145639553	Human	1	name
152082936	CV1526274	single nucleotide variant	NM_172250.3(MMAA):c.783T>A (p.Val261=)	Methylmalonic aciduria, cblA type [RCV002170780]	likely benign	4	145651111	145651111	Human	1	name
152094943	CV1533896	single nucleotide variant	NM_172250.3(MMAA):c.513G>A (p.Gly171=)	Methylmalonic aciduria, cblA type [RCV002151078]	likely benign	4	145642436	145642436	Human	1	name
152082044	CV1551822	single nucleotide variant	NM_172250.3(MMAA):c.762T>C (p.Ala254=)	Methylmalonic aciduria, cblA type [RCV002092977]	likely benign	4	145651090	145651090	Human	1	name
152041970	CV1553649	single nucleotide variant	NM_172250.3(MMAA):c.618A>G (p.Ala206=)	Methylmalonic aciduria, cblA type [RCV002088081]	likely benign	4	145646041	145646041	Human	1	name
152109992	CV1585977	single nucleotide variant	NM_172250.3(MMAA):c.885G>A (p.Leu295=)	Methylmalonic aciduria, cblA type [RCV002134357]	likely benign	4	145654059	145654059	Human	1	name
152164931	CV1588820	single nucleotide variant	NM_172250.3(MMAA):c.816G>A (p.Leu272=)	Methylmalonic aciduria, cblA type [RCV002181633]	likely benign	4	145651144	145651144	Human	1	name
152173411	CV1590018	single nucleotide variant	NM_172250.3(MMAA):c.924T>C (p.Ser308=)	Methylmalonic aciduria, cblA type [RCV002184166]	likely benign	4	145654098	145654098	Human	1	name
152099338	CV1610650	single nucleotide variant	NM_172250.3(MMAA):c.369T>G (p.Leu123=)	Methylmalonic aciduria, cblA type [RCV002133066]	likely benign	4	145639508	145639508	Human	1	name
152126561	CV1614827	single nucleotide variant	NM_172250.3(MMAA):c.891G>A (p.Val297=)	Methylmalonic aciduria, cblA type [RCV002082297]	likely benign	4	145654065	145654065	Human	1	name
152101891	CV1622320	single nucleotide variant	NM_172250.3(MMAA):c.603A>G (p.Ser201=)	Methylmalonic aciduria, cblA type [RCV002195653]	likely benign	4	145646026	145646026	Human	1	name
152108755	CV1623495	single nucleotide variant	NM_172250.3(MMAA):c.663A>G (p.Thr221=)	Methylmalonic aciduria, cblA type [RCV002215180]	likely benign	4	145646086	145646086	Human	1	name
152140763	CV1625189	single nucleotide variant	NM_172250.3(MMAA):c.657C>A (p.Gly219=)	Methylmalonic aciduria, cblA type [RCV002219340]	likely benign	4	145646080	145646080	Human	1	name
152056975	CV1635122	single nucleotide variant	NM_172250.3(MMAA):c.453C>G (p.Pro151=)	Methylmalonic aciduria, cblA type [RCV002089823]	likely benign	4	145642376	145642376	Human	1	name
152107429	CV1639184	single nucleotide variant	NM_172250.3(MMAA):c.564A>T (p.Gly188=)	Methylmalonic aciduria, cblA type [RCV002152596]	likely benign	4	145645987	145645987	Human	1	name
152116600	CV1653895	single nucleotide variant	NM_172250.3(MMAA):c.402A>G (p.Glu134=)	Methylmalonic aciduria, cblA type [RCV002153732]	likely benign	4	145639541	145639541	Human	1	name
152151258	CV1658739	single nucleotide variant	NM_172250.3(MMAA):c.600A>G (p.Leu200=)	Methylmalonic aciduria, cblA type [RCV002139548]	likely benign	4	145646023	145646023	Human	1	name
152118006	CV1658966	single nucleotide variant	NM_172250.3(MMAA):c.858A>G (p.Val286=)	Methylmalonic aciduria, cblA type [RCV002175192]	likely benign	4	145654032	145654032	Human	1	name
152066732	CV1662437	single nucleotide variant	NM_172250.3(MMAA):c.927A>G (p.Ala309=)	Methylmalonic aciduria, cblA type [RCV002091020]	likely benign	4	145654101	145654101	Human	1	name
156402116	CV1889278	single nucleotide variant	NM_172250.3(MMAA):c.657C>T (p.Gly219=)	Methylmalonic aciduria, cblA type [RCV003069255]	likely benign	4	145646080	145646080	Human	1	name
156030250	CV1910667	single nucleotide variant	NM_172250.3(MMAA):c.918T>C (p.Tyr306=)	Methylmalonic aciduria, cblA type [RCV002619819]	likely benign	4	145654092	145654092	Human	1	name
156061096	CV1931022	single nucleotide variant	NM_172250.3(MMAA):c.831G>A (p.Arg277=)	Methylmalonic aciduria, cblA type [RCV002638289]	likely benign	4	145654005	145654005	Human	1	name
156203983	CV1952679	single nucleotide variant	NM_172250.3(MMAA):c.762T>A (p.Ala254=)	Methylmalonic aciduria, cblA type [RCV002574884]	likely benign	4	145651090	145651090	Human	1	name
155945110	CV1999343	single nucleotide variant	NM_172250.3(MMAA):c.786A>G (p.Leu262=)	Methylmalonic aciduria, cblA type [RCV002685698]	likely benign	4	145651114	145651114	Human	1	name
156371120	CV2007758	single nucleotide variant	NM_172250.3(MMAA):c.354A>G (p.Leu118=)	Methylmalonic aciduria, cblA type [RCV002676908]	likely benign	4	145639493	145639493	Human	1	name
155908541	CV2027795	single nucleotide variant	NM_172250.3(MMAA):c.702G>T (p.Ala234=)	Methylmalonic aciduria, cblA type [RCV002726629]	likely benign	4	145646125	145646125	Human	1	name
156372299	CV2059064	single nucleotide variant	NM_172250.3(MMAA):c.546T>C (p.Ser182=)	Methylmalonic aciduria, cblA type [RCV002814394]	likely benign	4	145642469	145642469	Human	1	name
155934327	CV2061028	deletion	NM_172250.3(MMAA):c.170del (p.Leu57fs)	Methylmalonic aciduria, cblA type [RCV002815258]	pathogenic	4	145639309	145639309	Human	1	name
156062812	CV2065449	single nucleotide variant	NM_172250.3(MMAA):c.333T>C (p.Thr111=)	Methylmalonic aciduria, cblA type [RCV002846831]	likely benign	4	145639472	145639472	Human	1	name
156134411	CV2085731	single nucleotide variant	NM_172250.3(MMAA):c.651A>G (p.Leu217=)	Methylmalonic aciduria, cblA type [RCV002871753]	likely benign	4	145646074	145646074	Human	1	name
156090848	CV2093014	single nucleotide variant	NM_172250.3(MMAA):c.501T>G (p.Leu167=)	Methylmalonic aciduria, cblA type [RCV002926674]	likely benign	4	145642424	145642424	Human	1	name
156228952	CV2140843	single nucleotide variant	NM_172250.3(MMAA):c.648T>C (p.Thr216=)	Methylmalonic aciduria, cblA type [RCV003007668]	likely benign	4	145646071	145646071	Human	1	name
156229934	CV2156645	single nucleotide variant	NM_172250.3(MMAA):c.867T>G (p.Thr289=)	Methylmalonic aciduria, cblA type [RCV003025603]	likely benign	4	145654041	145654041	Human	1	name
10766721	CV216025	single nucleotide variant	NM_172250.3(MMAA):c.64C>T (p.Arg22Ter)	Methylmalonic acidemia [RCV000590153]\|Methylmalonic aciduria, cblA type [RCV000203329]\|not provided [RCV000488986]	pathogenic	4	145639203	145639203	Human	3	name
156132194	CV2181283	single nucleotide variant	NM_172250.3(MMAA):c.951A>C (p.Ser317=)	Methylmalonic aciduria, cblA type [RCV003039740]	likely benign	4	145654125	145654125	Human	1	name
155963108	CV2183682	single nucleotide variant	NM_172250.3(MMAA):c.729C>A (p.Thr243=)	Methylmalonic aciduria, cblA type [RCV003033039]	likely benign	4	145646152	145646152	Human	1	name
243054339	CV2410322	single nucleotide variant	NM_172250.3(MMAA):c.46C>A (p.Leu16Ile)	Methylmalonic aciduria, cblA type [RCV003131595]	uncertain significance	4	145639185	145639185	Human	1	name
401946127	CV2832895	deletion	NM_172250.3(MMAA):c.112del (p.Ile38fs)	Methylmalonic aciduria, cblA type [RCV003470128]	likely pathogenic	4	145639250	145639250	Human	1	name
401946141	CV2832902	deletion	NM_172250.3(MMAA):c.255del (p.Phe85fs)	Methylmalonic aciduria, cblA type [RCV003470135]	likely pathogenic	4	145639392	145639392	Human	1	name
401946142	CV2832903	single nucleotide variant	NM_172250.3(MMAA):c.50T>A (p.Leu17Ter)	Methylmalonic aciduria, cblA type [RCV003470136]	likely pathogenic	4	145639189	145639189	Human	1	name
405120937	CV2853827	single nucleotide variant	NM_172250.3(MMAA):c.783T>G (p.Val261=)	Methylmalonic aciduria, cblA type [RCV003500894]	likely benign	4	145651111	145651111	Human	1	name
405122561	CV2855677	single nucleotide variant	NM_172250.3(MMAA):c.333T>A (p.Thr111=)	Methylmalonic aciduria, cblA type [RCV003501086]	likely benign	4	145639472	145639472	Human	1	name
405124933	CV2869809	single nucleotide variant	NM_172250.3(MMAA):c.999G>A (p.Glu333=)	Methylmalonic aciduria, cblA type [RCV003501423]	likely benign	4	145655176	145655176	Human	1	name
405125464	CV2891511	single nucleotide variant	NM_172250.3(MMAA):c.303A>G (p.Leu101=)	Methylmalonic aciduria, cblA type [RCV003501490]	likely benign	4	145639442	145639442	Human	1	name
405129314	CV2912333	single nucleotide variant	NM_172250.3(MMAA):c.384T>C (p.Leu128=)	Methylmalonic aciduria, cblA type [RCV003501980]	likely benign	4	145639523	145639523	Human	1	name
405115378	CV2915733	single nucleotide variant	NM_172250.3(MMAA):c.861T>C (p.Ala287=)	Methylmalonic aciduria, cblA type [RCV003500019]	likely benign	4	145654035	145654035	Human	1	name
11591679	CV292317	single nucleotide variant	NM_172250.3(MMAA):c.597G>A (p.Glu199=)	MMAA-related disorder [RCV004752871]\|Methylmalonic acidemia [RCV001273688]\|Methylmalonic aciduria, cblA type [RCV000878729]\|not provided [RCV004710976]\|not specified [RCV000418167]	benign\|likely benign\|uncertain significance	4	145646020	145646020	Human	3	name , trait , alternate_id
11594221	CV292318	single nucleotide variant	NM_172250.3(MMAA):c.630A>G (p.Pro210=)	Methylmalonic acidemia [RCV001273689]\|Methylmalonic aciduria, cblA type [RCV001084213]\|not provided [RCV000886941]\|not specified [RCV000443202]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	4	145646053	145646053	Human	3	name
11586254	CV297085	single nucleotide variant	NM_172250.3(MMAA):c.912G>A (p.Ala304=)	Methylmalonic aciduria, cblA type [RCV000978763]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	4	145654086	145654086	Human	1	name
405018900	CV2974402	single nucleotide variant	NM_172250.3(MMAA):c.711C>T (p.Asp237=)	Methylmalonic aciduria, cblA type [RCV003607787]	likely benign	4	145646134	145646134	Human	1	name
405021989	CV2998373	single nucleotide variant	NM_172250.3(MMAA):c.357C>T (p.Ala119=)	Methylmalonic aciduria, cblA type [RCV003608091]	likely benign	4	145639496	145639496	Human	1	name
405022651	CV2999903	single nucleotide variant	NM_172250.3(MMAA):c.855G>A (p.Leu285=)	Methylmalonic aciduria, cblA type [RCV003608152]	likely benign	4	145654029	145654029	Human	1	name
405026401	CV3035468	single nucleotide variant	NM_172250.3(MMAA):c.549T>C (p.Ser183=)	Methylmalonic aciduria, cblA type [RCV003608477]	likely benign	4	145642472	145642472	Human	1	name
405028696	CV3064549	single nucleotide variant	NM_172250.3(MMAA):c.585C>A (p.Thr195=)	Methylmalonic aciduria, cblA type [RCV003608650]	likely benign	4	145646008	145646008	Human	1	name
405013936	CV3076514	single nucleotide variant	NM_172250.3(MMAA):c.519A>G (p.Lys173=)	Methylmalonic aciduria, cblA type [RCV003607132]	likely benign	4	145642442	145642442	Human	1	name
405213672	CV3127607	single nucleotide variant	NM_172250.3(MMAA):c.390C>T (p.His130=)	Methylmalonic aciduria, cblA type [RCV003823655]	likely benign	4	145639529	145639529	Human	1	name
402517496	CV3135832	single nucleotide variant	NM_172250.3(MMAA):c.375A>G (p.Lys125=)	Methylmalonic aciduria, cblA type [RCV003824458]	likely benign	4	145639514	145639514	Human	1	name
405197209	CV3146713	single nucleotide variant	NM_172250.3(MMAA):c.666G>A (p.Arg222=)	Methylmalonic aciduria, cblA type [RCV003844068]	likely benign	4	145646089	145646089	Human	1	name
405140426	CV3155148	single nucleotide variant	NM_172250.3(MMAA):c.555T>C (p.Thr185=)	Methylmalonic aciduria, cblA type [RCV003855386]	likely benign	4	145642478	145642478	Human	1	name
405224846	CV3158854	single nucleotide variant	NM_172250.3(MMAA):c.957C>T (p.Val319=)	Methylmalonic aciduria, cblA type [RCV003864156]	likely benign	4	145654131	145654131	Human	1	name
405247958	CV3159190	single nucleotide variant	NM_172250.3(MMAA):c.951A>G (p.Ser317=)	Methylmalonic aciduria, cblA type [RCV003869335]	likely benign	4	145654125	145654125	Human	1	name
405250697	CV3180816	single nucleotide variant	NM_172250.3(MMAA):c.405A>G (p.Gln135=)	Methylmalonic aciduria, cblA type [RCV003870094]	likely benign	4	145639544	145639544	Human	1	name
405261547	CV3221469	single nucleotide variant	NM_172250.3(MMAA):c.915A>G (p.Glu305=)	MMAA-related disorder [RCV003966947]	likely benign	4	145654089	145654089	Human		name , trait , alternate_id
405666476	CV3369243	single nucleotide variant	NM_172250.3(MMAA):c.75C>G (p.His25Gln)	Inborn genetic diseases [RCV004514256]	uncertain significance	4	145639214	145639214	Human	1	name
597735392	CV3724558	single nucleotide variant	NM_172250.3(MMAA):c.32A>G (p.His11Arg)	Methylmalonic aciduria, cblA type [RCV005037447]	uncertain significance	4	145639171	145639171	Human	1	name
597906526	CV3845865	single nucleotide variant	NM_172250.3(MMAA):c.660G>A (p.Val220=)	Methylmalonic aciduria, cblA type [RCV005181487]	likely benign	4	145646083	145646083	Human	1	name
13442519	CV434424	single nucleotide variant	NM_172250.3(MMAA):c.72C>A (p.Tyr24Ter)	Methylmalonic aciduria of the cblA complementation type [RCV001250250]\|Methylmalonic aciduria, cblA type [RCV000509025]	pathogenic\|likely pathogenic	4	145639211	145639211	Human	1	name
13539216	CV500497	single nucleotide variant	NM_172250.3(MMAA):c.729C>T (p.Thr243=)	MMAA-related disorder [RCV003927988]\|Methylmalonic aciduria, cblA type [RCV000910720]\|not specified [RCV000612965]	likely benign	4	145646152	145646152	Human	1	name , trait , alternate_id
13785753	CV543393	deletion	NM_172250.3(MMAA):c.206del (p.Thr69fs)	Methylmalonic aciduria, cblA type [RCV000672980]	likely pathogenic	4	145639345	145639345	Human	1	name
15182482	CV698388	single nucleotide variant	NM_172250.3(MMAA):c.879A>G (p.Gly293=)	Methylmalonic aciduria, cblA type [RCV000952227]\|not provided [RCV003432959]	likely benign	4	145654053	145654053	Human	1	name
15113302	CV720775	single nucleotide variant	NM_172250.3(MMAA):c.966A>G (p.Pro322=)	MMAA-related disorder [RCV003958015]\|Methylmalonic aciduria, cblA type [RCV000894638]	likely benign\|conflicting interpretations of pathogenicity	4	145654140	145654140	Human	1	name , trait , alternate_id
15155855	CV748753	single nucleotide variant	NM_172250.3(MMAA):c.787C>T (p.Leu263=)	Methylmalonic acidemia [RCV001273690]\|Methylmalonic aciduria, cblA type [RCV000924549]	likely benign\|uncertain significance	4	145651115	145651115	Human	3	name
15116751	CV781878	single nucleotide variant	NM_172250.3(MMAA):c.795A>C (p.Pro265=)	Methylmalonic aciduria, cblA type [RCV000978644]	likely benign	4	145651123	145651123	Human	1	name
40905117	CV978019	single nucleotide variant	NM_172250.3(MMAA):c.65G>T (p.Arg22Leu)	Methylmalonic aciduria, cblA type [RCV001278247]	uncertain significance	4	145639204	145639204	Human	1	name
40905118	CV978020	single nucleotide variant	NM_172250.3(MMAA):c.67T>C (p.Cys23Arg)	Methylmalonic aciduria, cblA type [RCV001278248]	uncertain significance	4	145639206	145639206	Human	1	name
40905119	CV978021	single nucleotide variant	NM_172250.3(MMAA):c.86A>G (p.His29Arg)	Methylmalonic aciduria, cblA type [RCV001278249]	uncertain significance	4	145639225	145639225	Human	1	name
40905120	CV978022	single nucleotide variant	NM_172250.3(MMAA):c.92G>A (p.Ser31Asn)	Inborn genetic diseases [RCV002537788]\|Methylmalonic aciduria, cblA type [RCV001278250]	uncertain significance	4	145639231	145639231	Human	2	name
127260281	CV1071436	single nucleotide variant	NM_172250.3(MMAA):c.1146C>T (p.His382=)	Methylmalonic aciduria, cblA type [RCV001420018]	likely benign	4	145655323	145655323	Human	1	name
127230033	CV1071437	single nucleotide variant	NM_172250.3(MMAA):c.1221A>G (p.Ala407=)	Methylmalonic aciduria, cblA type [RCV001412306]	likely benign	4	145655398	145655398	Human	1	name
127337058	CV1114595	single nucleotide variant	NM_172250.3(MMAA):c.1059G>A (p.Gly353=)	Methylmalonic aciduria, cblA type [RCV001475375]	likely benign	4	145655236	145655236	Human	1	name
127320591	CV1114596	single nucleotide variant	NM_172250.3(MMAA):c.1137C>T (p.Phe379=)	Methylmalonic aciduria, cblA type [RCV001466955]	likely benign	4	145655314	145655314	Human	1	name
127334268	CV1114597	single nucleotide variant	NM_172250.3(MMAA):c.1206C>T (p.Ser402=)	Methylmalonic aciduria, cblA type [RCV001473477]	likely benign	4	145655383	145655383	Human	1	name
127312792	CV1135487	single nucleotide variant	NM_172250.3(MMAA):c.1140G>A (p.Arg380=)	Methylmalonic aciduria, cblA type [RCV001502015]	likely benign	4	145655317	145655317	Human	1	name
151761465	CV1358224	deletion	NM_172250.3(MMAA):c.756del (p.Val253fs)	Methylmalonic aciduria, cblA type [RCV001928572]	pathogenic\|likely pathogenic	4	145651084	145651084	Human	1	name
151835605	CV1436293	duplication	NM_172250.3(MMAA):c.468dup (p.Ser157fs)	Methylmalonic aciduria, cblA type [RCV002014753]	pathogenic	4	145642387	145642388	Human	1	name
151796374	CV1476390	deletion	NM_172250.3(MMAA):c.639del (p.Arg214fs)	MMAA-related disorder [RCV003401788]\|Methylmalonic aciduria, cblA type [RCV001931901]	pathogenic\|likely pathogenic	4	145646062	145646062	Human	1	name , trait , alternate_id
152108190	CV1550751	single nucleotide variant	NM_172250.3(MMAA):c.1170A>G (p.Pro390=)	Methylmalonic aciduria, cblA type [RCV002152689]	likely benign	4	145655347	145655347	Human	1	name
152069346	CV1569921	single nucleotide variant	NM_172250.3(MMAA):c.1149C>A (p.Pro383=)	Methylmalonic aciduria, cblA type [RCV002191570]	likely benign	4	145655326	145655326	Human	1	name
152099486	CV1595580	single nucleotide variant	NM_172250.3(MMAA):c.1203G>A (p.Leu401=)	Methylmalonic aciduria, cblA type [RCV002213809]	likely benign	4	145655380	145655380	Human	1	name
152159409	CV1605756	single nucleotide variant	NM_172250.3(MMAA):c.1131G>A (p.Glu377=)	Methylmalonic aciduria, cblA type [RCV002103507]	likely benign	4	145655308	145655308	Human	1	name
152116492	CV1611000	single nucleotide variant	NM_172250.3(MMAA):c.1056T>C (p.Ser352=)	Methylmalonic aciduria, cblA type [RCV002135159]	likely benign	4	145655233	145655233	Human	1	name
152174361	CV1622396	single nucleotide variant	NM_172250.3(MMAA):c.1095T>C (p.Val365=)	Methylmalonic aciduria, cblA type [RCV002184482]	likely benign	4	145655272	145655272	Human	1	name
152136147	CV1664332	single nucleotide variant	NM_172250.3(MMAA):c.1023A>G (p.Lys341=)	Methylmalonic aciduria, cblA type [RCV002156165]	likely benign	4	145655200	145655200	Human	1	name
153000431	CV1683038	single nucleotide variant	NM_172250.3(MMAA):c.1005C>A (p.Ile335=)	Methylmalonic aciduria, cblA type [RCV003607430]\|See cases [RCV002253048]	likely benign\|uncertain significance	4	145655182	145655182	Human	1	name
155736175	CV1781954	deletion	NM_172250.3(MMAA):c.496del (p.Met166fs)	Methylmalonic aciduria, cblA type [RCV002309695]	likely pathogenic	4	145642415	145642415	Human	1	name
155728561	CV1782469	duplication	NM_172250.3(MMAA):c.523dup (p.Ser175fs)	Methylmalonic aciduria, cblA type [RCV002308001]	likely pathogenic	4	145642445	145642446	Human	1	name
8596032	CV18197	single nucleotide variant	NM_172250.3(MMAA):c.283C>T (p.Gln95Ter)	Methylmalonic acidemia [RCV003155012]\|Methylmalonic aciduria, cblA type [RCV000003308]	pathogenic	4	145639422	145639422	Human	3	name
156251575	CV1883811	single nucleotide variant	NM_172250.3(MMAA):c.185A>G (p.Lys62Arg)	Methylmalonic aciduria, cblA type [RCV003086121]	uncertain significance	4	145639324	145639324	Human	1	name
156138545	CV1888083	single nucleotide variant	NM_172250.3(MMAA):c.1083G>A (p.Lys361=)	Methylmalonic aciduria, cblA type [RCV003082112]	likely benign	4	145655260	145655260	Human	1	name
156290027	CV2055121	deletion	NM_172250.3(MMAA):c.940del (p.Arg314fs)	Methylmalonic aciduria, cblA type [RCV002833163]	pathogenic	4	145654113	145654113	Human	1	name
156353298	CV2066031	single nucleotide variant	NM_172250.3(MMAA):c.1149C>T (p.Pro383=)	Methylmalonic aciduria, cblA type [RCV002811943]	likely benign	4	145655326	145655326	Human	1	name
156301786	CV2079527	single nucleotide variant	NM_172250.3(MMAA):c.1212A>C (p.Gly404=)	Methylmalonic aciduria, cblA type [RCV002857207]	likely benign	4	145655389	145655389	Human	1	name
156013457	CV2121229	single nucleotide variant	NM_172250.3(MMAA):c.1228T>C (p.Leu410=)	Methylmalonic aciduria, cblA type [RCV002948404]	likely benign	4	145655405	145655405	Human	1	name
155977211	CV2151295	single nucleotide variant	NM_172250.3(MMAA):c.1044A>G (p.Leu348=)	Methylmalonic aciduria, cblA type [RCV003033708]	likely benign	4	145655221	145655221	Human	1	name
10766732	CV216026	single nucleotide variant	NM_172250.3(MMAA):c.161G>A (p.Trp54Ter)	Methylmalonic aciduria, cblA type [RCV000203357]	pathogenic\|likely pathogenic	4	145639300	145639300	Human	1	name
10766750	CV216027	single nucleotide variant	NM_172250.3(MMAA):c.266T>C (p.Leu89Pro)	Methylmalonic aciduria, cblA type [RCV000203404]	pathogenic\|likely pathogenic	4	145639405	145639405	Human	1	name
10766742	CV216030	deletion	NM_172250.3(MMAA):c.503del (p.Thr168fs)	Methylmalonic aciduria, cblA type [RCV000203380]	pathogenic	4	145642426	145642426	Human	1	name
156185850	CV2178652	single nucleotide variant	NM_172250.3(MMAA):c.284A>G (p.Gln95Arg)	Methylmalonic aciduria, cblA type [RCV003057674]	uncertain significance	4	145639423	145639423	Human	1	name
401782679	CV2719935	single nucleotide variant	NM_172250.3(MMAA):c.247C>A (p.Gln83Lys)	Inborn genetic diseases [RCV003309116]	uncertain significance	4	145639386	145639386	Human	1	name
401946123	CV2832893	duplication	NM_172250.3(MMAA):c.936dup (p.Leu313fs)	Methylmalonic aciduria, cblA type [RCV003470126]	likely pathogenic	4	145654109	145654110	Human	1	name
401946146	CV2832908	deletion	NM_172250.3(MMAA):c.405del (p.Gln135fs)	Methylmalonic aciduria, cblA type [RCV003470138]	likely pathogenic	4	145639543	145639543	Human	1	name
401946150	CV2832910	deletion	NM_172250.3(MMAA):c.601del (p.Ser201fs)	Methylmalonic aciduria, cblA type [RCV003470140]	likely pathogenic	4	145646024	145646024	Human	1	name
405127092	CV2894699	deletion	NM_172250.3(MMAA):c.388del (p.His130fs)	Methylmalonic aciduria, cblA type [RCV003501696]	pathogenic	4	145639526	145639526	Human	1	name
405116918	CV2911207	single nucleotide variant	NM_172250.3(MMAA):c.1161A>G (p.Glu387=)	Methylmalonic aciduria, cblA type [RCV003500255]	likely benign	4	145655338	145655338	Human	1	name
11660826	CV292309	single nucleotide variant	NM_172250.3(MMAA):c.128C>T (p.Pro43Leu)	Inborn genetic diseases [RCV005372299]\|Methylmalonic aciduria, cblA type [RCV000673980]	uncertain significance	4	145639267	145639267	Human	2	name
405118579	CV2929697	single nucleotide variant	NM_172250.3(MMAA):c.1002G>C (p.Gly334=)	Methylmalonic aciduria, cblA type [RCV003500449]	likely benign	4	145655179	145655179	Human	1	name
405018175	CV2954548	single nucleotide variant	NM_172250.3(MMAA):c.1197G>A (p.Gly399=)	Methylmalonic aciduria, cblA type [RCV003607719]	likely benign	4	145655374	145655374	Human	1	name
11588956	CV297084	single nucleotide variant	NM_172250.3(MMAA):c.124C>G (p.Gln42Glu)	Methylmalonic aciduria, cblA type [RCV000670989]	uncertain significance	4	145639263	145639263	Human	1	name
405020568	CV2978415	single nucleotide variant	NM_172250.3(MMAA):c.1156C>A (p.Arg386=)	Methylmalonic aciduria, cblA type [RCV003607976]	likely benign	4	145655333	145655333	Human	1	name
405025140	CV3018540	deletion	NM_172250.3(MMAA):c.851del (p.Asp284fs)	Methylmalonic aciduria, cblA type [RCV003608371]	pathogenic	4	145654025	145654025	Human	1	name
405148526	CV3141958	single nucleotide variant	NM_172250.3(MMAA):c.1086A>G (p.Gln362=)	Methylmalonic aciduria, cblA type [RCV003839880]	likely benign	4	145655263	145655263	Human	1	name
405237906	CV3165406	single nucleotide variant	NM_172250.3(MMAA):c.1116G>A (p.Gln372=)	Methylmalonic aciduria, cblA type [RCV003866608]	likely benign	4	145655293	145655293	Human	1	name
405871530	CV3400928	deletion	NM_172250.3(MMAA):c.780del (p.Phe260fs)	Methylmalonic aciduria, cblA type [RCV004574882]	likely pathogenic	4	145651106	145651106	Human	1	name
597683161	CV3557273	single nucleotide variant	NM_172250.3(MMAA):c.260A>G (p.Asp87Gly)	Inborn genetic diseases [RCV004952226]	uncertain significance	4	145639399	145639399	Human	1	name
12847479	CV369033	single nucleotide variant	NM_172250.3(MMAA):c.1236A>G (p.Lys412=)	Methylmalonic aciduria, cblA type [RCV000883073]\|not specified [RCV000443557]	benign\|likely benign	4	145655413	145655413	Human	1	name
597735404	CV3724561	single nucleotide variant	NM_172250.3(MMAA):c.265C>G (p.Leu89Val)	Methylmalonic aciduria, cblA type [RCV005037449]	uncertain significance	4	145639404	145639404	Human	1	name
597653726	CV3724562	single nucleotide variant	NM_172250.3(MMAA):c.281T>C (p.Ile94Thr)	Methylmalonic aciduria, cblA type [RCV005027140]	uncertain significance	4	145639420	145639420	Human	1	name
597735439	CV3724580	deletion	NM_172250.3(MMAA):c.988del (p.Arg330fs)	Methylmalonic aciduria, cblA type [RCV005037455]	likely pathogenic	4	145655163	145655163	Human	1	name
597915278	CV3843308	single nucleotide variant	NM_172250.3(MMAA):c.1020T>C (p.Asp340=)	Methylmalonic aciduria, cblA type [RCV005190358]	likely benign	4	145655197	145655197	Human	1	name
13442526	CV434425	single nucleotide variant	NM_172250.3(MMAA):c.202C>T (p.Gln68Ter)	Methylmalonic aciduria, cblA type [RCV000509034]	pathogenic\|likely pathogenic	4	145639341	145639341	Human	1	name
13442514	CV434429	duplication	NM_172250.3(MMAA):c.441dup (p.Leu148fs)	Methylmalonic aciduria, cblA type [RCV000509018]	pathogenic	4	145642363	145642364	Human	1	name
13442523	CV434430	deletion	NM_172250.3(MMAA):c.455del (p.Pro152fs)	Methylmalonic aciduria, cblA type [RCV000509030]\|not provided [RCV004719847]	pathogenic	4	145642374	145642374	Human	1	name
13442529	CV434434	duplication	NM_172250.3(MMAA):c.651dup (p.Gly218fs)	Methylmalonic aciduria, cblA type [RCV000509038]\|not provided [RCV002512108]	pathogenic	4	145646073	145646074	Human	1	name
13462625	CV439257	duplication	NM_172250.3(MMAA):c.829dup (p.Arg277fs)	not provided [RCV000514499]	likely pathogenic	4	145653999	145654000	Human		name
13482723	CV443588	deletion	NM_172250.3(MMAA):c.489del (p.Phe163fs)	not provided [RCV000521864]	pathogenic	4	145642409	145642409	Human		name
13528059	CV513270	single nucleotide variant	NM_172250.3(MMAA):c.295G>A (p.Ala99Thr)	Methylmalonic aciduria, cblA type [RCV000625865]	uncertain significance	4	145639434	145639434	Human	1	name
13785587	CV543080	deletion	NM_172250.3(MMAA):c.15_16del (p.Pro6fs)	Methylmalonic aciduria, cblA type [RCV000667589]	likely pathogenic	4	145639154	145639155	Human	1	name
13785547	CV543081	duplication	NM_172250.3(MMAA):c.450dup (p.Pro151fs)	Methylmalonic acidemia [RCV001193916]\|Methylmalonic aciduria, cblA type [RCV000666170]\|not provided [RCV002245082]	pathogenic	4	145642370	145642371	Human	3	name
13785651	CV543389	single nucleotide variant	NM_172250.3(MMAA):c.124C>T (p.Gln42Ter)	Methylmalonic aciduria, cblA type [RCV000669805]	pathogenic\|likely pathogenic	4	145639263	145639263	Human	1	name
13785677	CV543414	duplication	NM_172250.3(MMAA):c.551dup (p.Cys184fs)	Methylmalonic aciduria, cblA type [RCV000670314]	pathogenic	4	145642473	145642474	Human	1	name
14738485	CV631954	single nucleotide variant	NM_172250.3(MMAA):c.175G>C (p.Asp59His)	Methylmalonic aciduria, cblA type [RCV000820945]	uncertain significance	4	145639314	145639314	Human	1	name
15202879	CV698389	single nucleotide variant	NM_172250.3(MMAA):c.1002G>A (p.Gly334=)	Methylmalonic aciduria, cblA type [RCV000958086]	likely benign	4	145655179	145655179	Human	1	name
15176383	CV764332	single nucleotide variant	NM_172250.3(MMAA):c.1179A>G (p.Glu393=)	Methylmalonic aciduria, cblA type [RCV000928905]	likely benign	4	145655356	145655356	Human	1	name
38481021	CV943814	duplication	NM_172250.3(MMAA):c.314dup (p.Thr106fs)	Methylmalonic aciduria, cblA type [RCV001234942]	pathogenic	4	145639452	145639453	Human	1	name
40905121	CV978023	single nucleotide variant	NM_172250.3(MMAA):c.208A>C (p.Thr70Pro)	Methylmalonic aciduria, cblA type [RCV001278251]	uncertain significance	4	145639347	145639347	Human	1	name
40905122	CV978024	single nucleotide variant	NM_172250.3(MMAA):c.269A>T (p.Tyr90Phe)	Inborn genetic diseases [RCV002541677]\|Methylmalonic aciduria, cblA type [RCV001278252]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	4	145639408	145639408	Human	2	name
40905782	CV978035	single nucleotide variant	NM_172250.3(MMAA):c.1044A>C (p.Leu348=)	Methylmalonic aciduria, cblA type [RCV001279045]	uncertain significance	4	145655221	145655221	Human	1	name
8643443	CV102426	deletion	NM_172250.3(MMAA):c.1034del (p.Phe345fs)	Methylmalonic aciduria, cblA type [RCV000509023]\|not provided [RCV000082687]	pathogenic	4	145655209	145655209	Human	1	name
126745168	CV1025643	single nucleotide variant	NM_172250.3(MMAA):c.347A>G (p.Lys116Arg)	Inborn genetic diseases [RCV002546809]\|Methylmalonic aciduria, cblA type [RCV001337175]	uncertain significance	4	145639486	145639486	Human	2	name
127254336	CV1059967	single nucleotide variant	NM_172250.3(MMAA):c.434G>A (p.Arg145Gln)	Methylmalonic acidemia [RCV003388009]\|Methylmalonic aciduria, cblA type [RCV001386117]	pathogenic\|likely pathogenic	4	145639573	145639573	Human	3	name
150413548	CV1199577	single nucleotide variant	NM_172250.3(MMAA):c.313A>G (p.Ile105Val)	Methylmalonic aciduria, cblA type [RCV001578765]	uncertain significance	4	145639452	145639452	Human	1	name
150413549	CV1199578	single nucleotide variant	NM_172250.3(MMAA):c.941G>A (p.Arg314His)	Methylmalonic aciduria, cblA type [RCV001578766]	uncertain significance	4	145654115	145654115	Human	1	name
151767719	CV1348754	single nucleotide variant	NM_172250.3(MMAA):c.610A>G (p.Met204Val)	Methylmalonic aciduria, cblA type [RCV001896029]	uncertain significance	4	145646033	145646033	Human	1	name
151853075	CV1349192	single nucleotide variant	NM_172250.3(MMAA):c.760G>A (p.Ala254Thr)	Inborn genetic diseases [RCV004043353]\|Methylmalonic aciduria, cblA type [RCV001923054]	uncertain significance	4	145651088	145651088	Human	2	name
151880688	CV1360083	single nucleotide variant	NM_172250.3(MMAA):c.763G>C (p.Asp255His)	Methylmalonic aciduria, cblA type [RCV002036828]	uncertain significance	4	145651091	145651091	Human	1	name
151760131	CV1361836	single nucleotide variant	NM_172250.3(MMAA):c.721A>G (p.Ile241Val)	Inborn genetic diseases [RCV004955827]\|Methylmalonic aciduria, cblA type [RCV001928414]	uncertain significance	4	145646144	145646144	Human	2	name
151834558	CV1429108	single nucleotide variant	NM_172250.3(MMAA):c.776T>C (p.Met259Thr)	Methylmalonic aciduria, cblA type [RCV001994052]	uncertain significance	4	145651104	145651104	Human	1	name
151805390	CV1429883	single nucleotide variant	NM_172250.3(MMAA):c.659T>C (p.Val220Ala)	Methylmalonic aciduria, cblA type [RCV001974286]	likely pathogenic	4	145646082	145646082	Human	1	name
151886574	CV1441587	single nucleotide variant	NM_172250.3(MMAA):c.365T>C (p.Leu122Pro)	Methylmalonic aciduria, cblA type [RCV001942196]	pathogenic\|likely pathogenic	4	145639504	145639504	Human	1	name
151716693	CV1464853	single nucleotide variant	NM_172250.3(MMAA):c.335A>G (p.His112Arg)	Methylmalonic aciduria, cblA type [RCV002003035]	uncertain significance	4	145639474	145639474	Human	1	name
151876264	CV1466969	single nucleotide variant	NM_172250.3(MMAA):c.691T>C (p.Cys231Arg)	Methylmalonic aciduria, cblA type [RCV001885895]	uncertain significance	4	145646114	145646114	Human	1	name
151737791	CV1469466	single nucleotide variant	NM_172250.3(MMAA):c.898C>T (p.Arg300Ter)	Methylmalonic aciduria, cblA type [RCV002041912]	pathogenic	4	145654072	145654072	Human	1	name
151779538	CV1496928	single nucleotide variant	NM_172250.3(MMAA):c.730G>T (p.Val244Phe)	Methylmalonic aciduria, cblA type [RCV001930303]	uncertain significance	4	145646153	145646153	Human	1	name
151667591	CV1498775	single nucleotide variant	NM_172250.3(MMAA):c.488T>C (p.Phe163Ser)	Methylmalonic aciduria, cblA type [RCV002001460]	uncertain significance	4	145642411	145642411	Human	1	name
155664344	CV1773245	single nucleotide variant	NM_172250.3(MMAA):c.314T>C (p.Ile105Thr)	Methylmalonic aciduria, cblA type [RCV002296957]	uncertain significance	4	145639453	145639453	Human	1	name
155724242	CV1781765	single nucleotide variant	NM_172250.3(MMAA):c.785T>A (p.Leu262Ter)	Methylmalonic aciduria, cblA type [RCV002306793]	likely pathogenic	4	145651113	145651113	Human	1	name
155736320	CV1782057	single nucleotide variant	NM_172250.3(MMAA):c.708T>A (p.Tyr236Ter)	Methylmalonic aciduria, cblA type [RCV002309798]	likely pathogenic	4	145646131	145646131	Human	1	name
155737280	CV1784387	single nucleotide variant	NM_172250.3(MMAA):c.493A>T (p.Lys165Ter)	Methylmalonic aciduria, cblA type [RCV002310544]	likely pathogenic	4	145642416	145642416	Human	1	name
155729736	CV1784469	single nucleotide variant	NM_172250.3(MMAA):c.490G>T (p.Gly164Ter)	Methylmalonic aciduria, cblA type [RCV002308417]	likely pathogenic	4	145642413	145642413	Human	1	name
8596033	CV18198	single nucleotide variant	NM_172250.3(MMAA):c.620A>G (p.Tyr207Cys)	Methylmalonic aciduria, cblA type [RCV000003309]	pathogenic	4	145646043	145646043	Human	1	name
8596034	CV18199	single nucleotide variant	NM_172250.3(MMAA):c.433C>T (p.Arg145Ter)	MMAA-related disorder [RCV003421899]\|Methylmalonic acidemia [RCV000587855]\|Methylmalonic aciduria, cblA type [RCV000003310]\|See cases [RCV003128386]\|not provided [RCV000186012]	pathogenic\|likely pathogenic	4	145639572	145639572	Human	3	name , trait , alternate_id
156263954	CV1869345	single nucleotide variant	NM_172250.3(MMAA):c.889G>A (p.Val297Met)	Methylmalonic aciduria, cblA type [RCV003060462]	uncertain significance	4	145654063	145654063	Human	1	name
156409671	CV1881490	single nucleotide variant	NM_172250.3(MMAA):c.775A>C (p.Met259Leu)	Inborn genetic diseases [RCV004071644]\|Methylmalonic aciduria, cblA type [RCV003071766]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	4	145651103	145651103	Human	2	name
156273267	CV1900062	single nucleotide variant	NM_172250.3(MMAA):c.509G>C (p.Arg170Thr)	Inborn genetic diseases [RCV004636663]\|Methylmalonic aciduria, cblA type [RCV003086862]	uncertain significance	4	145642432	145642432	Human	2	name
156370547	CV1905283	single nucleotide variant	NM_172250.3(MMAA):c.761C>T (p.Ala254Val)	Methylmalonic aciduria, cblA type [RCV003092387]\|not provided [RCV004801282]	uncertain significance	4	145651089	145651089	Human	1	name
156315925	CV1928385	single nucleotide variant	NM_172250.3(MMAA):c.457G>A (p.Gly153Ser)	Methylmalonic aciduria, cblA type [RCV002630061]	uncertain significance	4	145642380	145642380	Human	1	name
156434790	CV1940195	single nucleotide variant	NM_172250.3(MMAA):c.541C>G (p.Pro181Ala)	Methylmalonic aciduria, cblA type [RCV003104613]	uncertain significance	4	145642464	145642464	Human	1	name
156124146	CV1995175	deletion	NM_172250.3(MMAA):c.1120del (p.Ser374fs)	Methylmalonic aciduria, cblA type [RCV002662971]	uncertain significance	4	145655295	145655295	Human	1	name
10058838	CV200053	single nucleotide variant	NM_172250.3(MMAA):c.387C>A (p.Tyr129Ter)	MMAA-related disorder [RCV003401020]\|Methylmalonic acidemia [RCV001420837]\|Methylmalonic aciduria, cblA type [RCV000671866]\|not provided [RCV000186011]	pathogenic	4	145639526	145639526	Human	3	name , trait , alternate_id
10058840	CV200055	single nucleotide variant	NM_172250.3(MMAA):c.988C>T (p.Arg330Ter)	Methylmalonic acidemia [RCV001193917]\|Methylmalonic aciduria, cblA type [RCV000203343]\|not provided [RCV000186014]	pathogenic	4	145655165	145655165	Human	3	name
156086707	CV2007230	single nucleotide variant	NM_172250.3(MMAA):c.443T>A (p.Leu148Ter)	Methylmalonic aciduria, cblA type [RCV002694797]	pathogenic	4	145642366	145642366	Human	1	name
156207889	CV2042366	single nucleotide variant	NM_172250.3(MMAA):c.346A>C (p.Lys116Gln)	Methylmalonic aciduria, cblA type [RCV002766487]	uncertain significance	4	145639485	145639485	Human	1	name
10398686	CV204444	single nucleotide variant	NM_172250.3(MMAA):c.370C>T (p.Gln124Ter)	Methylmalonic aciduria, cblB type [RCV000190396]	not provided	4	145639509	145639509	Human		name
156019245	CV2046921	single nucleotide variant	NM_172250.3(MMAA):c.832G>A (p.Gly278Ser)	Methylmalonic aciduria, cblA type [RCV002780566]	likely pathogenic	4	145654006	145654006	Human	1	name
156226688	CV2081137	single nucleotide variant	NM_172250.3(MMAA):c.817C>T (p.Gln273Ter)	Methylmalonic aciduria, cblA type [RCV002853415]	pathogenic	4	145651145	145651145	Human	1	name
10766735	CV216028	single nucleotide variant	NM_172250.3(MMAA):c.358C>T (p.Gln120Ter)	Methylmalonic aciduria, cblA type [RCV000203366]	pathogenic\|not provided	4	145639497	145639497	Human	1	name
10766749	CV216029	single nucleotide variant	NM_172250.3(MMAA):c.397C>T (p.Gln133Ter)	Methylmalonic aciduria, cblA type [RCV000203403]	pathogenic	4	145639536	145639536	Human	1	name
10766714	CV216031	single nucleotide variant	NM_172250.3(MMAA):c.562G>C (p.Gly188Arg)	Methylmalonic aciduria, cblA type [RCV000203317]	pathogenic\|likely pathogenic\|not provided	4	145642485	145642485	Human	1	name
10766722	CV216033	single nucleotide variant	NM_172250.3(MMAA):c.650T>A (p.Leu217Ter)	Methylmalonic acidemia [RCV001804942]\|Methylmalonic aciduria, cblA type [RCV000203334]	pathogenic\|likely pathogenic	4	145646073	145646073	Human	3	name
10766741	CV216034	single nucleotide variant	NM_172250.3(MMAA):c.653G>A (p.Gly218Glu)	Methylmalonic acidemia [RCV002509299]\|Methylmalonic aciduria, cblA type [RCV000203378]	pathogenic\|likely pathogenic\|not provided	4	145646076	145646076	Human	3	name
156045920	CV2268637	single nucleotide variant	NM_172250.3(MMAA):c.389A>G (p.His130Arg)	Inborn genetic diseases [RCV002822031]	uncertain significance	4	145639528	145639528	Human	1	name
156049987	CV2319348	single nucleotide variant	NM_172250.3(MMAA):c.919G>A (p.Val307Met)	Inborn genetic diseases [RCV002950049]	uncertain significance	4	145654093	145654093	Human	1	name
329952035	CV2668776	single nucleotide variant	NM_172250.3(MMAA):c.748G>A (p.Glu250Lys)	not specified [RCV003230857]	uncertain significance	4	145651076	145651076	Human		name
11641579	CV268014	single nucleotide variant	NM_172250.3(MMAA):c.494A>G (p.Lys165Arg)	Inborn genetic diseases [RCV004021143]\|not provided [RCV000359154]	likely benign\|uncertain significance	4	145642417	145642417	Human	1	name
401740527	CV2684379	single nucleotide variant	NM_172250.3(MMAA):c.845T>C (p.Met282Thr)	Inborn genetic diseases [RCV003240684]\|Methylmalonic aciduria, cblA type [RCV005036712]	uncertain significance	4	145654019	145654019	Human	2	name
11638829	CV272476	single nucleotide variant	NM_172250.3(MMAA):c.334C>T (p.His112Tyr)	not provided [RCV000308854]	uncertain significance	4	145639473	145639473	Human		name
401898817	CV2782724	single nucleotide variant	NM_172250.3(MMAA):c.524C>G (p.Ser175Cys)	Inborn genetic diseases [RCV003376976]	uncertain significance	4	145642447	145642447	Human	1	name
401946131	CV2832897	duplication	NM_172250.3(MMAA):c.708dup (p.Asp237Ter)	Methylmalonic aciduria, cblA type [RCV003470130]	likely pathogenic	4	145646130	145646131	Human	1	name
401946148	CV2832909	single nucleotide variant	NM_172250.3(MMAA):c.302T>G (p.Leu101Ter)	Methylmalonic aciduria, cblA type [RCV003470139]	likely pathogenic	4	145639441	145639441	Human	1	name
405120761	CV2863448	deletion	NM_172250.3(MMAA):c.1145del (p.His382fs)	Methylmalonic aciduria, cblA type [RCV003500866]	likely pathogenic	4	145655322	145655322	Human	1	name
11584762	CV292315	single nucleotide variant	NM_172250.3(MMAA):c.383T>C (p.Leu128Pro)	Methylmalonic aciduria, cblA type [RCV000276358]	uncertain significance	4	145639522	145639522	Human	1	name
11595570	CV292319	single nucleotide variant	NM_172250.3(MMAA):c.904A>T (p.Ile302Leu)	Inborn genetic diseases [RCV004948266]\|Methylmalonic acidemia [RCV001278262]\|Methylmalonic aciduria, cblA type [RCV000371710]	uncertain significance	4	145654078	145654078	Human	4	name
405116608	CV2924914	single nucleotide variant	NM_172250.3(MMAA):c.599T>C (p.Leu200Ser)	Methylmalonic aciduria, cblA type [RCV003500211]	uncertain significance	4	145646022	145646022	Human	1	name
405117622	CV2931525	deletion	NM_172250.3(MMAA):c.1124del (p.Val375fs)	Methylmalonic aciduria, cblA type [RCV003500324]	pathogenic	4	145655301	145655301	Human	1	name
11654364	CV293754	single nucleotide variant	NM_172250.3(MMAA):c.862G>A (p.Val288Ile)	Methylmalonic aciduria, cblA type [RCV000317126]	uncertain significance	4	145654036	145654036	Human	1	name
11590835	CV293755	single nucleotide variant	NM_172250.3(MMAA):c.977G>A (p.Arg326His)	Inborn genetic diseases [RCV003168529]\|Methylmalonic aciduria, cblA type [RCV000323115]	uncertain significance	4	145655154	145655154	Human	2	name
405021450	CV2990031	duplication	NM_172250.3(MMAA):c.386dup (p.Tyr129Ter)	Methylmalonic aciduria, cblA type [RCV003608039]	pathogenic	4	145639524	145639525	Human	1	name
405023849	CV3009336	single nucleotide variant	NM_172250.3(MMAA):c.325G>T (p.Glu109Ter)	Methylmalonic aciduria, cblA type [RCV003608258]	pathogenic	4	145639464	145639464	Human	1	name
405023315	CV3011267	single nucleotide variant	NM_172250.3(MMAA):c.362T>C (p.Val121Ala)	Methylmalonic aciduria, cblA type [RCV003608211]	uncertain significance	4	145639501	145639501	Human	1	name
405792712	CV3369475	single nucleotide variant	NM_172250.3(MMAA):c.946C>T (p.Arg316Cys)	Inborn genetic diseases [RCV004506467]\|Methylmalonic aciduria, cblA type [RCV005023553]	uncertain significance	4	145654120	145654120	Human	2	name
405665433	CV3373039	single nucleotide variant	NM_172250.3(MMAA):c.307G>A (p.Glu103Lys)	Inborn genetic diseases [RCV004514053]	uncertain significance	4	145639446	145639446	Human	1	name
405874697	CV3401582	single nucleotide variant	NM_172250.3(MMAA):c.772G>A (p.Asp258Asn)	Methylmalonic acidemia [RCV004579650]\|Methylmalonic aciduria, cblA type [RCV005023583]	likely pathogenic	4	145651100	145651100	Human	3	name
407518772	CV3457474	single nucleotide variant	NM_172250.3(MMAA):c.911C>T (p.Ala304Val)	Inborn genetic diseases [RCV004628985]\|Methylmalonic aciduria, cblA type [RCV005038757]	uncertain significance	4	145654085	145654085	Human	2	name
408368824	CV3502674	single nucleotide variant	NM_172250.3(MMAA):c.673A>G (p.Asn225Asp)	not provided [RCV004723795]	uncertain significance	4	145646096	145646096	Human		name
597683169	CV3557274	single nucleotide variant	NM_172250.3(MMAA):c.976C>T (p.Arg326Cys)	Inborn genetic diseases [RCV004952227]	uncertain significance	4	145655153	145655153	Human	1	name
597700381	CV3557277	single nucleotide variant	NM_172250.3(MMAA):c.986C>T (p.Ala329Val)	Inborn genetic diseases [RCV004956534]	uncertain significance	4	145655163	145655163	Human	1	name
597683179	CV3557278	single nucleotide variant	NM_172250.3(MMAA):c.754G>A (p.Ala252Thr)	Inborn genetic diseases [RCV004952229]	uncertain significance	4	145651082	145651082	Human	1	name
597683186	CV3557279	single nucleotide variant	NM_172250.3(MMAA):c.557G>C (p.Ser186Thr)	Inborn genetic diseases [RCV004952230]	uncertain significance	4	145642480	145642480	Human	1	name
597653738	CV3724563	single nucleotide variant	NM_172250.3(MMAA):c.320T>C (p.Leu107Pro)	Methylmalonic aciduria, cblA type [RCV005027141]	uncertain significance	4	145639459	145639459	Human	1	name
597735409	CV3724567	single nucleotide variant	NM_172250.3(MMAA):c.440G>A (p.Gly147Glu)	Methylmalonic aciduria, cblA type [RCV005037450]	likely pathogenic	4	145642363	145642363	Human	1	name
597653763	CV3724568	single nucleotide variant	NM_172250.3(MMAA):c.488T>G (p.Phe163Cys)	Methylmalonic aciduria, cblA type [RCV005027144]	uncertain significance	4	145642411	145642411	Human	1	name
597735416	CV3724569	single nucleotide variant	NM_172250.3(MMAA):c.551G>A (p.Cys184Tyr)	Methylmalonic aciduria, cblA type [RCV005037451]	uncertain significance	4	145642474	145642474	Human	1	name
597735422	CV3724570	single nucleotide variant	NM_172250.3(MMAA):c.600A>T (p.Leu200Phe)	Methylmalonic aciduria, cblA type [RCV005037452]	uncertain significance	4	145646023	145646023	Human	1	name
597653779	CV3724571	single nucleotide variant	NM_172250.3(MMAA):c.616G>A (p.Ala206Thr)	Methylmalonic aciduria, cblA type [RCV005027146]	uncertain significance	4	145646039	145646039	Human	1	name
597735428	CV3724572	single nucleotide variant	NM_172250.3(MMAA):c.634C>G (p.Pro212Ala)	Methylmalonic aciduria, cblA type [RCV005037453]	uncertain significance	4	145646057	145646057	Human	1	name
597653785	CV3724574	single nucleotide variant	NM_172250.3(MMAA):c.820G>C (p.Gly274Arg)	Methylmalonic aciduria, cblA type [RCV005027147]	uncertain significance	4	145653994	145653994	Human	1	name
597653796	CV3724576	single nucleotide variant	NM_172250.3(MMAA):c.856G>C (p.Val286Leu)	Methylmalonic aciduria, cblA type [RCV005027148]	uncertain significance	4	145654030	145654030	Human	1	name
597653805	CV3724577	single nucleotide variant	NM_172250.3(MMAA):c.877G>A (p.Gly293Arg)	Methylmalonic aciduria, cblA type [RCV005027149]	uncertain significance	4	145654051	145654051	Human	1	name
597653812	CV3724578	single nucleotide variant	NM_172250.3(MMAA):c.904A>G (p.Ile302Val)	Methylmalonic aciduria, cblA type [RCV005027150]	uncertain significance	4	145654078	145654078	Human	1	name
597653853	CV3724584	deletion	NM_172250.3(MMAA):c.1067del (p.Thr356fs)	Methylmalonic aciduria, cblA type [RCV005027155]	likely pathogenic	4	145655244	145655244	Human	1	name
597653871	CV3724586	deletion	NM_172250.3(MMAA):c.1130del (p.Glu377fs)	Methylmalonic aciduria, cblA type [RCV005027157]	likely pathogenic	4	145655307	145655307	Human	1	name
597909546	CV3839863	single nucleotide variant	NM_172250.3(MMAA):c.803G>T (p.Gly268Val)	Methylmalonic aciduria, cblA type [RCV005184602]	uncertain significance	4	145651131	145651131	Human	1	name
597925876	CV3859991	single nucleotide variant	NM_172250.3(MMAA):c.349G>T (p.Glu117Ter)	Methylmalonic aciduria, cblA type [RCV005200462]	pathogenic	4	145639488	145639488	Human	1	name
598244686	CV3895847	single nucleotide variant	NM_172250.3(MMAA):c.473C>T (p.Thr158Ile)	Methylmalonic aciduria, cblA type [RCV005365705]	uncertain significance	4	145642396	145642396	Human	1	name
598199893	CV3989569	single nucleotide variant	NM_172250.3(MMAA):c.723T>G (p.Ile241Met)	Inborn genetic diseases [RCV005375767]	uncertain significance	4	145646146	145646146	Human	1	name
13442516	CV434432	single nucleotide variant	NM_172250.3(MMAA):c.575G>A (p.Gly192Asp)	Methylmalonic aciduria, cblA type [RCV000509020]	pathogenic	4	145645998	145645998	Human	1	name
13442532	CV434433	single nucleotide variant	NM_172250.3(MMAA):c.587G>A (p.Arg196Gln)	Methylmalonic aciduria, cblA type [RCV000509041]\|not specified [RCV003235259]	uncertain significance	4	145646010	145646010	Human	1	name
13442517	CV434435	single nucleotide variant	NM_172250.3(MMAA):c.658G>A (p.Val220Met)	Methylmalonic aciduria, cblA type [RCV000509021]	pathogenic\|likely pathogenic	4	145646081	145646081	Human	1	name
13442522	CV434436	single nucleotide variant	NM_172250.3(MMAA):c.721A>T (p.Ile241Phe)	Methylmalonic aciduria, cblA type [RCV000509028]	pathogenic	4	145646144	145646144	Human	1	name
13442530	CV434437	single nucleotide variant	NM_172250.3(MMAA):c.728C>A (p.Thr243Asn)	Methylmalonic aciduria, cblA type [RCV000509039]	pathogenic	4	145646151	145646151	Human	1	name
13442524	CV434439	single nucleotide variant	NM_172250.3(MMAA):c.860C>A (p.Ala287Asp)	Methylmalonic aciduria, cblA type [RCV000509031]	pathogenic	4	145654034	145654034	Human	1	name
13442531	CV434440	single nucleotide variant	NM_172250.3(MMAA):c.875A>T (p.Asp292Val)	Methylmalonic aciduria, cblA type [RCV000509040]	pathogenic	4	145654049	145654049	Human	1	name
13475383	CV443589	single nucleotide variant	NM_172250.3(MMAA):c.701C>T (p.Ala234Val)	Inborn genetic diseases [RCV004955581]\|Methylmalonic aciduria, cblA type [RCV001829508]\|not provided [RCV000519875]	uncertain significance	4	145646124	145646124	Human	2	name
13490738	CV452967	single nucleotide variant	NM_172250.3(MMAA):c.800C>T (p.Ala267Val)	Methylmalonic aciduria, cblA type [RCV000533719]\|not provided [RCV001584284]	uncertain significance	4	145651128	145651128	Human	1	name
13469508	CV453275	single nucleotide variant	NM_172250.3(MMAA):c.586C>T (p.Arg196Ter)	Methylmalonic acidemia [RCV001193915]\|Methylmalonic aciduria, cblA type [RCV000545383]\|not provided [RCV001584283]	pathogenic	4	145646009	145646009	Human	3	name
13517097	CV487063	single nucleotide variant	NM_172250.3(MMAA):c.742C>T (p.Gln248Ter)	Methylmalonic acidemia [RCV000586897]\|Methylmalonic aciduria, cblA type [RCV001240486]	pathogenic	4	145651070	145651070	Human	3	name
13527859	CV513271	single nucleotide variant	NM_172250.3(MMAA):c.664A>G (p.Arg222Gly)	Inborn genetic diseases [RCV003258891]\|Methylmalonic aciduria, cblA type [RCV000625787]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	4	145646087	145646087	Human	2	name
13606438	CV513949	single nucleotide variant	NM_172250.3(MMAA):c.304G>A (p.Ala102Thr)	Cataract [RCV000627007]\|Methylmalonic aciduria, cblA type [RCV000642157]\|not provided [RCV000998299]	conflicting interpretations of pathogenicity\|uncertain significance	4	145639443	145639443	Human	5	name
13785722	CV543083	duplication	NM_172250.3(MMAA):c.594dup (p.Glu199Ter)	Methylmalonic aciduria, cblA type [RCV000672172]	likely pathogenic	4	145646016	145646017	Human	1	name
13785649	CV543339	deletion	NM_172250.3(MMAA):c.1114del (p.Gln372fs)	Methylmalonic aciduria, cblA type [RCV000669744]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	4	145655291	145655291	Human	1	name
13785681	CV543377	single nucleotide variant	NM_172250.3(MMAA):c.952C>T (p.Gln318Ter)	Methylmalonic aciduria, cblA type [RCV000670340]	likely pathogenic	4	145654126	145654126	Human	1	name
13785599	CV543417	single nucleotide variant	NM_172250.3(MMAA):c.833G>A (p.Gly278Asp)	MMAA-related disorder [RCV003403549]\|Methylmalonic aciduria, cblA type [RCV000667825]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	4	145654007	145654007	Human	1	name , trait , alternate_id
14736761	CV631955	single nucleotide variant	NM_172250.3(MMAA):c.989G>A (p.Arg330Gln)	Inborn genetic diseases [RCV003353035]\|Methylmalonic aciduria, cblA type [RCV000803749]	uncertain significance	4	145655166	145655166	Human	2	name
26888655	CV828815	duplication	NM_172250.3(MMAA):c.762dup (p.Asp255Ter)	Methylmalonic aciduria, cblA type [RCV001053481]	pathogenic	4	145651089	145651090	Human	1	name
28877554	CV890146	single nucleotide variant	NM_172250.3(MMAA):c.400G>C (p.Glu134Gln)	Methylmalonic aciduria, cblA type [RCV001148380]	uncertain significance	4	145639539	145639539	Human	1	name
28882423	CV890147	single nucleotide variant	NM_172250.3(MMAA):c.718C>G (p.Leu240Val)	Methylmalonic aciduria, cblA type [RCV001149940]	uncertain significance	4	145646141	145646141	Human	1	name
28890050	CV903533	single nucleotide variant	NM_172250.3(MMAA):c.970G>A (p.Val324Ile)	Methylmalonic aciduria, cblA type [RCV001169964]	uncertain significance	4	145655147	145655147	Human	1	name
38468318	CV932179	single nucleotide variant	NM_172250.3(MMAA):c.676G>A (p.Glu226Lys)	Methylmalonic aciduria, cblA type [RCV001213079]	uncertain significance	4	145646099	145646099	Human	1	name
38465160	CV932180	single nucleotide variant	NM_172250.3(MMAA):c.940C>T (p.Arg314Cys)	Inborn genetic diseases [RCV003163512]\|Methylmalonic aciduria, cblA type [RCV001201672]	uncertain significance	4	145654114	145654114	Human	2	name
38483321	CV943815	single nucleotide variant	NM_172250.3(MMAA):c.697G>T (p.Gly233Ter)	Methylmalonic aciduria, cblA type [RCV001235874]	pathogenic	4	145646120	145646120	Human	1	name
38499417	CV953681	single nucleotide variant	NM_172250.3(MMAA):c.947G>A (p.Arg316His)	Methylmalonic aciduria, cblA type [RCV001244634]	uncertain significance	4	145654121	145654121	Human	1	name
40888950	CV971852	single nucleotide variant	NM_172250.3(MMAA):c.552T>A (p.Cys184Ter)	Methylmalonic aciduria, cblA type [RCV001263970]	likely pathogenic	4	145642475	145642475	Human	1	name
40905123	CV978025	single nucleotide variant	NM_172250.3(MMAA):c.367C>T (p.Leu123Phe)	Methylmalonic aciduria, cblA type [RCV001278253]	uncertain significance	4	145639506	145639506	Human	1	name
40905124	CV978026	single nucleotide variant	NM_172250.3(MMAA):c.373A>G (p.Lys125Glu)	Methylmalonic aciduria, cblA type [RCV001278254]	uncertain significance	4	145639512	145639512	Human	1	name
40905125	CV978027	single nucleotide variant	NM_172250.3(MMAA):c.393A>T (p.Arg131Ser)	Inborn genetic diseases [RCV002541678]\|Methylmalonic aciduria, cblA type [RCV001278255]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	4	145639532	145639532	Human	2	name
40905127	CV978029	single nucleotide variant	NM_172250.3(MMAA):c.722T>C (p.Ile241Thr)	Methylmalonic aciduria, cblA type [RCV001278257]	uncertain significance	4	145646145	145646145	Human	1	name
40905129	CV978031	single nucleotide variant	NM_172250.3(MMAA):c.746C>T (p.Ser249Leu)	Methylmalonic aciduria, cblA type [RCV001278259]	uncertain significance	4	145651074	145651074	Human	1	name
40905130	CV978032	single nucleotide variant	NM_172250.3(MMAA):c.824T>C (p.Ile275Thr)	Methylmalonic aciduria, cblA type [RCV001278260]	uncertain significance	4	145653998	145653998	Human	1	name
40905131	CV978033	single nucleotide variant	NM_172250.3(MMAA):c.850G>C (p.Asp284His)	Methylmalonic aciduria, cblA type [RCV001278261]	uncertain significance	4	145654024	145654024	Human	1	name
40905781	CV978034	single nucleotide variant	NM_172250.3(MMAA):c.928C>G (p.Leu310Val)	Inborn genetic diseases [RCV004035481]\|Methylmalonic aciduria, cblA type [RCV001279044]\|not specified [RCV004526101]	uncertain significance	4	145654102	145654102	Human	2	name
126755753	CV1005101	single nucleotide variant	NM_172250.3(MMAA):c.1135T>C (p.Phe379Leu)	Methylmalonic aciduria, cblA type [RCV001317012]	uncertain significance	4	145655312	145655312	Human	1	name
126744746	CV1016388	single nucleotide variant	NM_172250.3(MMAA):c.1157G>A (p.Arg386Gln)	Methylmalonic aciduria, cblA type [RCV001330507]	uncertain significance	4	145655334	145655334	Human	1	name
8643444	CV102427	single nucleotide variant	NM_172250.3(MMAA):c.1089G>C (p.Gln363His)	Methylmalonic aciduria, cblA type [RCV000999792]\|not provided [RCV004716938]\|not specified [RCV000082688]	benign\|likely benign	4	145655266	145655266	Human	1	name
150410443	CV1195957	single nucleotide variant	NM_172250.3(MMAA):c.1079G>A (p.Arg360Gln)	not provided [RCV001573102]	uncertain significance	4	145655256	145655256	Human		name
150413551	CV1199579	single nucleotide variant	NM_172250.3(MMAA):c.1055G>A (p.Ser352Asn)	Methylmalonic aciduria, cblA type [RCV001578767]	uncertain significance	4	145655232	145655232	Human	1	name
151734399	CV1453027	single nucleotide variant	NM_172250.3(MMAA):c.1198G>T (p.Ala400Ser)	Methylmalonic aciduria, cblA type [RCV002041537]	uncertain significance	4	145655375	145655375	Human	1	name
151827839	CV1465307	single nucleotide variant	NM_172250.3(MMAA):c.1048C>T (p.Leu350Phe)	Methylmalonic aciduria, cblA type [RCV002014011]	uncertain significance	4	145655225	145655225	Human	1	name
156161871	CV1872377	single nucleotide variant	NM_172250.3(MMAA):c.1156C>T (p.Arg386Trp)	Methylmalonic aciduria, cblA type [RCV003056935]	uncertain significance	4	145655333	145655333	Human	1	name
156071698	CV2018575	single nucleotide variant	NM_172250.3(MMAA):c.1117G>T (p.Glu373Ter)	Methylmalonic aciduria, cblA type [RCV002705705]	pathogenic\|uncertain significance	4	145655294	145655294	Human	1	name
155986610	CV2030488	single nucleotide variant	NM_172250.3(MMAA):c.1162C>T (p.Gln388Ter)	Methylmalonic aciduria, cblA type [RCV002755566]	uncertain significance	4	145655339	145655339	Human	1	name
10766746	CV216036	single nucleotide variant	NM_172250.3(MMAA):c.1076G>A (p.Arg359Gln)	Methylmalonic aciduria, cblA type [RCV000203388]	pathogenic	4	145655253	145655253	Human	1	name
156260459	CV2216348	single nucleotide variant	NM_172250.3(MMAA):c.1120A>C (p.Ser374Arg)	Inborn genetic diseases [RCV002702993]	uncertain significance	4	145655297	145655297	Human	1	name
11075186	CV227100	single nucleotide variant	NM_172250.3(MMAA):c.1025T>G (p.Met342Arg)	Methylmalonic aciduria, cblA type [RCV000210840]	pathogenic	4	145655202	145655202	Human	1	name
156205979	CV2311493	single nucleotide variant	NM_172250.3(MMAA):c.1004T>G (p.Ile335Ser)	Inborn genetic diseases [RCV002893451]	uncertain significance	4	145655181	145655181	Human	1	name
401941542	CV2832904	single nucleotide variant	NM_172250.3(MMAA):c.1098G>A (p.Trp366Ter)	Methylmalonic aciduria, cblA type [RCV003461859]	pathogenic\|likely pathogenic	4	145655275	145655275	Human	1	name
11596017	CV292324	single nucleotide variant	NM_172250.3(MMAA):c.1078C>T (p.Arg360Trp)	Inborn genetic diseases [RCV002523464]\|Methylmalonic aciduria, cblA type [RCV000377643]	uncertain significance	4	145655255	145655255	Human	2	name
405017068	CV2947242	single nucleotide variant	NM_172250.3(MMAA):c.1114C>T (p.Gln372Ter)	Methylmalonic aciduria, cblA type [RCV003607638]	pathogenic	4	145655291	145655291	Human	1	name
11597507	CV297032	single nucleotide variant	NM_172250.3(MMAA):c.1177G>A (p.Glu393Lys)	Methylmalonic aciduria, cblA type [RCV000394975]\|not provided [RCV003228922]	uncertain significance	4	145655354	145655354	Human	1	name
11586556	CV297033	single nucleotide variant	NM_172250.3(MMAA):c.1193T>C (p.Ile398Thr)	Methylmalonic aciduria, cblA type [RCV000288695]	conflicting interpretations of pathogenicity\|uncertain significance	4	145655370	145655370	Human	1	name
11593275	CV297098	single nucleotide variant	NM_172250.3(MMAA):c.1121G>A (p.Ser374Asn)	Inborn genetic diseases [RCV004021939]\|Methylmalonic aciduria, cblA type [RCV000347123]	likely benign\|uncertain significance	4	145655298	145655298	Human	2	name
405027298	CV3047732	single nucleotide variant	NM_172250.3(MMAA):c.1037A>G (p.Gln346Arg)	Methylmalonic aciduria, cblA type [RCV003608566]	uncertain significance	4	145655214	145655214	Human	1	name
405013265	CV3069452	single nucleotide variant	NM_172250.3(MMAA):c.1087C>T (p.Gln363Ter)	Methylmalonic aciduria, cblA type [RCV003607064]	pathogenic	4	145655264	145655264	Human	1	name
405657655	CV3372813	single nucleotide variant	NM_172250.3(MMAA):c.1014G>A (p.Met338Ile)	Inborn genetic diseases [RCV004511848]	uncertain significance	4	145655191	145655191	Human	1	name
405664871	CV3372926	single nucleotide variant	NM_172250.3(MMAA):c.1133A>T (p.His378Leu)	Inborn genetic diseases [RCV004513940]	uncertain significance	4	145655310	145655310	Human	1	name
405665133	CV3372979	single nucleotide variant	NM_172250.3(MMAA):c.1210G>C (p.Gly404Arg)	Inborn genetic diseases [RCV004513993]	uncertain significance	4	145655387	145655387	Human	1	name
405665256	CV3373006	single nucleotide variant	NM_172250.3(MMAA):c.1211G>A (p.Gly404Glu)	Inborn genetic diseases [RCV004514020]	uncertain significance	4	145655388	145655388	Human	1	name
405871531	CV3400929	single nucleotide variant	NM_172250.3(MMAA):c.1036C>T (p.Gln346Ter)	Methylmalonic aciduria, cblA type [RCV004574883]	likely pathogenic	4	145655213	145655213	Human	1	name
597683192	CV3557280	single nucleotide variant	NM_172250.3(MMAA):c.1147C>G (p.Pro383Ala)	Inborn genetic diseases [RCV004952231]	uncertain significance	4	145655324	145655324	Human	1	name
12849934	CV364078	single nucleotide variant	NM_172250.3(MMAA):c.1142C>T (p.Thr381Ile)	Inborn genetic diseases [RCV002524729]\|Methylmalonic aciduria, cblA type [RCV001339627]\|not provided [RCV000438685]	uncertain significance	4	145655319	145655319	Human	2	name
597653827	CV3724581	single nucleotide variant	NM_172250.3(MMAA):c.1034T>C (p.Phe345Ser)	Methylmalonic aciduria, cblA type [RCV005027152]	uncertain significance	4	145655211	145655211	Human	1	name
597653836	CV3724582	single nucleotide variant	NM_172250.3(MMAA):c.1049T>A (p.Leu350His)	Methylmalonic aciduria, cblA type [RCV005027153]	uncertain significance	4	145655226	145655226	Human	1	name
597735445	CV3724583	single nucleotide variant	NM_172250.3(MMAA):c.1061A>G (p.Glu354Gly)	Methylmalonic aciduria, cblA type [RCV005037456]	uncertain significance	4	145655238	145655238	Human	1	name
597653861	CV3724585	single nucleotide variant	NM_172250.3(MMAA):c.1108C>T (p.Leu370Phe)	Methylmalonic aciduria, cblA type [RCV005027156]	uncertain significance	4	145655285	145655285	Human	1	name
597653879	CV3724587	single nucleotide variant	NM_172250.3(MMAA):c.1220C>T (p.Ala407Val)	Methylmalonic aciduria, cblA type [RCV005027158]	uncertain significance	4	145655397	145655397	Human	1	name
597653888	CV3724588	single nucleotide variant	NM_172250.3(MMAA):c.1241T>C (p.Phe414Ser)	Methylmalonic aciduria, cblA type [RCV005027159]	uncertain significance	4	145655418	145655418	Human	1	name
12913308	CV421476	single nucleotide variant	NM_172250.3(MMAA):c.1104G>A (p.Trp368Ter)	not provided [RCV000493661]	likely pathogenic	4	145655281	145655281	Human		name
13484193	CV453742	single nucleotide variant	NM_172250.3(MMAA):c.1075C>T (p.Arg359Ter)	Methylmalonic aciduria, cblA type [RCV000552652]\|not provided [RCV004777722]	pathogenic\|likely pathogenic	4	145655252	145655252	Human	1	name
13785757	CV543425	single nucleotide variant	NM_172250.3(MMAA):c.1075C>G (p.Arg359Gly)	Methylmalonic aciduria, cblA type [RCV000672995]	uncertain significance	4	145655252	145655252	Human	1	name
13803296	CV559591	single nucleotide variant	NM_172250.3(MMAA):c.1084C>T (p.Gln362Ter)	Methylmalonic aciduria, cblA type [RCV000699106]\|not provided [RCV004768583]	likely pathogenic	4	145655261	145655261	Human	1	name
15111641	CV764331	single nucleotide variant	NM_172250.3(MMAA):c.1003A>T (p.Ile335Phe)	Methylmalonic aciduria, cblA type [RCV000938788]	likely benign\|conflicting interpretations of pathogenicity	4	145655180	145655180	Human	1	name
8631035	CV86191	single nucleotide variant	NM_172250.2(MMAA):c.1168C>T (p.Pro390Ser)	Malignant melanoma [RCV000066282]	not provided	4	145655345	145655345	Human		name
28870950	CV890148	single nucleotide variant	NM_172250.3(MMAA):c.1000G>A (p.Gly334Arg)	Methylmalonic aciduria, cblA type [RCV001145607]	uncertain significance	4	145655177	145655177	Human	1	name
28870952	CV890149	single nucleotide variant	NM_172250.3(MMAA):c.1099A>G (p.Met367Val)	Methylmalonic aciduria, cblA type [RCV001145608]	uncertain significance	4	145655276	145655276	Human	1	name
28890056	CV903534	single nucleotide variant	NM_172250.3(MMAA):c.1229T>A (p.Leu410Ter)	Methylmalonic aciduria, cblA type [RCV001169965]	pathogenic	4	145655406	145655406	Human	1	name
151816962	CV1456840	duplication	NM_172250.3(MMAA):c.127_134dup (p.Ser46fs)	Methylmalonic aciduria, cblA type [RCV001900507]	pathogenic	4	145639265	145639266	Human	1	name
156138636	CV2106104	deletion	NM_172250.3(MMAA):c.184_185del (p.Lys62fs)	Methylmalonic aciduria, cblA type [RCV002914821]	pathogenic	4	145639322	145639323	Human	1	name
243052776	CV2410098	microsatellite	NM_172250.3(MMAA):c.188_189del (p.Arg63fs)	Methylmalonic aciduria, cblA type [RCV003143984]	likely pathogenic	4	145639324	145639325	Human		name
401941543	CV2832906	duplication	NM_172250.3(MMAA):c.260_267dup (p.Tyr90fs)	Methylmalonic aciduria, cblA type [RCV003461860]	pathogenic	4	145639398	145639399	Human	1	name
13442533	CV434426	deletion	NM_172250.3(MMAA):c.267_268del (p.Thr91fs)	Methylmalonic aciduria, cblA type [RCV000509042]	pathogenic	4	145639405	145639406	Human	1	name
13442520	CV434427	deletion	NM_172250.3(MMAA):c.290_296del (p.Gln97fs)	Methylmalonic aciduria, cblA type [RCV000509026]	pathogenic	4	145639423	145639429	Human	1	name
13814580	CV559740	microsatellite	NM_172250.3(MMAA):c.139_140del (p.Leu47fs)	Methylmalonic aciduria, cblA type [RCV000690978]	pathogenic	4	145639275	145639276	Human		name
151856398	CV1464689	duplication	NM_172250.3(MMAA):c.795_796dup (p.Pro266fs)	Methylmalonic aciduria, cblA type [RCV001958644]	pathogenic	4	145651121	145651122	Human	1	name
155736624	CV1782289	deletion	NM_172250.3(MMAA):c.601_602del (p.Ser201fs)	Methylmalonic aciduria, cblA type [RCV002310030]	likely pathogenic	4	145646024	145646025	Human	1	name
10058839	CV200054	deletion	NM_172250.3(MMAA):c.593_596del (p.Thr198fs)	MMAA-related disorder [RCV004752785]\|Methylmalonic acidemia [RCV000780425]\|Methylmalonic aciduria, cblA type [RCV000203312]\|not provided [RCV000186013]	pathogenic	4	145646013	145646016	Human	3	name , trait , alternate_id
155925053	CV2099517	deletion	NM_172250.3(MMAA):c.713_714del (p.Ile238fs)	Methylmalonic aciduria, cblA type [RCV002903527]	pathogenic	4	145646135	145646136	Human	1	name
243056121	CV2410321	microsatellite	NM_172250.3(MMAA):c.542CTT[2] (p.Ser183del)	Methylmalonic aciduria, cblA type [RCV003132657]	uncertain significance	4	145642465	145642467	Human		name
401946129	CV2832896	duplication	NM_172250.3(MMAA):c.746_762dup (p.Asp255fs)	Methylmalonic aciduria, cblA type [RCV003470129]	likely pathogenic	4	145651072	145651073	Human	1	name
597735433	CV3724575	microsatellite	NM_172250.3(MMAA):c.836_837del (p.Ile279fs)	Methylmalonic aciduria, cblA type [RCV005037454]	likely pathogenic	4	145654008	145654009	Human		name
13442528	CV434431	microsatellite	NM_172250.3(MMAA):c.527_528del (p.Val176fs)	Methylmalonic aciduria, cblA type [RCV000509037]	pathogenic	4	145642448	145642449	Human		name
13785776	CV543374	duplication	NM_172250.3(MMAA):c.812_813dup (p.Leu272fs)	Methylmalonic aciduria, cblA type [RCV000673653]	likely pathogenic	4	145651138	145651139	Human	1	name
13785518	CV543409	deletion	NM_172250.3(MMAA):c.411_414del (p.Asn137fs)	Methylmalonic acidemia [RCV003155263]\|Methylmalonic aciduria, cblA type [RCV000664890]	pathogenic\|likely pathogenic	4	145639547	145639550	Human	3	name
155722762	CV1781498	indel	NM_172250.3(MMAA):c.636delinsAGG (p.Thr213fs)	Methylmalonic aciduria, cblA type [RCV002306526]	likely pathogenic	4	145646059	145646059	Human		name
597653718	CV3724560	indel	NM_172250.3(MMAA):c.44_45delinsAA (p.Gly15Glu)	Methylmalonic aciduria, cblA type [RCV005027139]	uncertain significance	4	145639183	145639184	Human		name
10766711	CV216032	deletion	NM_172250.2(MMAA):c.592_595delACTG (p.Thr198Serfs)	Methylmalonic aciduria cblA type [RCV000203312]	pathogenic	4	145646015	145646018	Human		name
401946144	CV2832907	deletion	NM_172250.3(MMAA):c.1042del (p.Asp347_Leu348insTer)	Methylmalonic aciduria, cblA type [RCV003470137]	likely pathogenic	4	145655218	145655218	Human	1	name
13442527	CV434428	deletion	NM_172250.3(MMAA):c.298_312del (p.Cys100_Ala104del)	Methylmalonic aciduria, cblA type [RCV000509035]	pathogenic\|likely pathogenic	4	145639433	145639447	Human	1	name
13442525	CV434441	indel	NM_172250.3(MMAA):c.1196_1197delinsTT (p.Gly399Val)	Methylmalonic aciduria, cblA type [RCV000509032]	pathogenic	4	145655373	145655374	Human		name
155729427	CV1782791	indel	NM_172250.3(MMAA):c.420_422delinsTGTGATT (p.Lys140fs)	Methylmalonic aciduria, cblA type [RCV002308323]	likely pathogenic	4	145639559	145639561	Human		name
13785767	CV543380	deletion	NM_172250.3(MMAA):c.1060_1065del (p.Glu354_Leu355del)	Methylmalonic aciduria, cblA type [RCV000673376]	uncertain significance	4	145655236	145655241	Human	1	name
329951707	CV2671338	deletion	NM_172250.3(MMAA):c.282_287del (p.Ile94_Gly96delinsMet)	Methylmalonic aciduria, cblA type [RCV003234970]	uncertain significance	4	145639421	145639426	Human	1	name
13785810	CV543338	insertion	NM_172250.3(MMAA):c.508_509insAGG (p.Arg170delinsLysGly)	Methylmalonic aciduria, cblA type [RCV000674720]	uncertain significance	4	145642431	145642432	Human	1	name
8557255	CV18196	insertion	NM_172250.3(MMAA):c.260_261insATAAACTT (p.Asp87delinsGluTer)	Methylmalonic aciduria, cblA type [RCV000003307]	pathogenic	4	145639399	145639400	Human	1	name
156266856	CV2030508	microsatellite	NM_172250.3(MMAA):c.1216_1229GCA[2]GACTTCTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGCAGCAGACTTCTT[1] (p.Leu410delinsPhePhePhePhePhePhePheXaaXaaXaaXaaIleArgProProArgProProLysValLeuGlyLeuGlnAlaTer)	Methylmalonic aciduria, cblA type [RCV002746502]	pathogenic	4	145655392	145655393	Human		name

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