Cblb Variant Search Result - Rat Genome Database

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611 records found for search term Cblb

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
8688684	CV139247	single nucleotide variant	NM_170662.5(CBLB):c.-14-1G>T	not specified [RCV000122368]	not provided	3	105867592	105867592	Human		name
617152572	CV4017916	single nucleotide variant	NM_170662.5(CBLB):c.2569+1609A>C	Autoimmune disease, multisystem, infantile-onset, 3 [RCV005417706]	uncertain significance	3	105676822	105676822	Human	1	name , alternate_id
156132474	CV2350130	single nucleotide variant	NM_170662.5(CBLB):c.5C>A (p.Ala2Glu)	not specified [RCV004200050]	uncertain significance	3	105867573	105867573	Human		name
155932490	CV2364403	single nucleotide variant	NM_170662.5(CBLB):c.13A>G (p.Met5Val)	not specified [RCV004223614]	uncertain significance	3	105867565	105867565	Human		name
401922347	CV2827608	single nucleotide variant	NM_170662.5(CBLB):c.594A>G (p.Arg198=)	CBLB-related disorder [RCV003938990]\|not provided [RCV003433687]	likely benign	3	105751591	105751591	Human	1	name , trait , alternate_id
405276890	CV3193569	single nucleotide variant	NM_170662.5(CBLB):c.840C>T (p.Pro280=)	CBLB-related disorder [RCV003974738]	benign	3	105745922	105745922	Human		name , trait , alternate_id
405272153	CV3203106	single nucleotide variant	NM_170662.5(CBLB):c.825A>G (p.Lys275=)	CBLB-related disorder [RCV003914152]	benign	3	105745937	105745937	Human		name , trait , alternate_id
405293197	CV3221268	single nucleotide variant	NM_170662.5(CBLB):c.588A>T (p.Val196=)	CBLB-related disorder [RCV003966795]	likely benign	3	105751597	105751597	Human		name , trait , alternate_id
405275342	CV3196269	single nucleotide variant	NM_170662.5(CBLB):c.1341A>C (p.Leu447=)	CBLB-related disorder [RCV003974136]	benign	3	105720113	105720113	Human		name , trait , alternate_id
405288326	CV3197292	single nucleotide variant	NM_170662.5(CBLB):c.1863G>A (p.Ala621=)	CBLB-related disorder [RCV003982388]	benign	3	105702190	105702190	Human		name , trait , alternate_id
405292268	CV3199852	single nucleotide variant	NM_170662.5(CBLB):c.2613T>C (p.Pro871=)	CBLB-related disorder [RCV003964430]	benign	3	105670309	105670309	Human		name , trait , alternate_id
405280323	CV3200660	single nucleotide variant	NM_170662.5(CBLB):c.1581G>A (p.Thr527=)	CBLB-related disorder [RCV003977284]	benign	3	105704000	105704000	Human		name , trait , alternate_id
405261781	CV3205200	single nucleotide variant	NM_170662.5(CBLB):c.1620A>G (p.Gln540=)	CBLB-related disorder [RCV003944601]	likely benign	3	105702433	105702433	Human		name , trait , alternate_id
405295145	CV3211038	single nucleotide variant	NM_170662.5(CBLB):c.1710A>G (p.Arg570=)	CBLB-related disorder [RCV003937039]	likely benign	3	105702343	105702343	Human		name , trait , alternate_id
405284101	CV3213516	single nucleotide variant	NM_170662.5(CBLB):c.2682A>G (p.Ser894=)	CBLB-related disorder [RCV003922095]	benign	3	105670240	105670240	Human		name , trait , alternate_id
405289982	CV3213993	single nucleotide variant	NM_170662.5(CBLB):c.2331A>G (p.Pro777=)	CBLB-related disorder [RCV003926843]	benign	3	105681576	105681576	Human		name , trait , alternate_id
405278193	CV3221735	single nucleotide variant	NM_170662.5(CBLB):c.1053C>T (p.Asp351=)	CBLB-related disorder [RCV003976324]	benign	3	105737189	105737189	Human		name , trait , alternate_id
405278332	CV3221879	single nucleotide variant	NM_170662.5(CBLB):c.1272C>T (p.Asp424=)	CBLB-related disorder [RCV003976436]	benign	3	105720182	105720182	Human		name , trait , alternate_id
597785611	CV3641227	single nucleotide variant	NM_170662.5(CBLB):c.1518C>T (p.Pro506=)	not specified [RCV004900771]	likely benign	3	105704063	105704063	Human		name
15191843	CV697735	single nucleotide variant	NM_170662.5(CBLB):c.2067G>A (p.Pro689=)	CBLB-related disorder [RCV003978273]\|not provided [RCV000954895]	benign\|likely benign	3	105685454	105685454	Human	1	name , trait , alternate_id
15150774	CV708446	single nucleotide variant	NM_170662.5(CBLB):c.1161T>C (p.Pro387=)	CBLB-related disorder [RCV003905943]\|not provided [RCV000968008]	benign	3	105734051	105734051	Human	1	name , trait , alternate_id
8630512	CV85667	single nucleotide variant	NM_170662.3(CBLB):c.1632C>T (p.Leu544=)	Malignant melanoma [RCV000065750]	not provided	3	105702421	105702421	Human		name
8687134	CV137567	single nucleotide variant	NM_170662.5(CBLB):c.821A>C (p.Gln274Pro)	not specified [RCV000120480]	not provided	3	105745941	105745941	Human		name
8687135	CV137568	single nucleotide variant	NM_170662.5(CBLB):c.743G>A (p.Arg248Gln)	not specified [RCV000120481]	not provided	3	105746019	105746019	Human		name
8686654	CV139248	single nucleotide variant	NM_001321790.2(CBLB):c.20C>G (p.Pro7Arg)	not specified [RCV000122369]	not provided	3	105869369	105869369	Human		name
156154869	CV2328703	single nucleotide variant	NM_170662.5(CBLB):c.562G>C (p.Asp188His)	not specified [RCV004177939]	uncertain significance	3	105776400	105776400	Human		name
329954200	CV2671957	single nucleotide variant	NM_170662.5(CBLB):c.770A>T (p.His257Leu)	Autoimmune disease, multisystem, infantile-onset, 3 [RCV003237385]	pathogenic	3	105745992	105745992	Human	1	name , alternate_id
401862480	CV2762131	single nucleotide variant	NM_170662.5(CBLB):c.485C>A (p.Pro162His)	not specified [RCV004341945]	uncertain significance	3	105776477	105776477	Human		name
401895536	CV2770630	single nucleotide variant	NM_170662.5(CBLB):c.574G>A (p.Val192Ile)	not specified [RCV004349682]	uncertain significance	3	105751611	105751611	Human		name
405738199	CV3292024	single nucleotide variant	NM_170662.5(CBLB):c.359G>A (p.Arg120Gln)	not specified [RCV004430288]	uncertain significance	3	105853474	105853474	Human		name
598176033	CV3950400	single nucleotide variant	NM_170662.5(CBLB):c.941A>T (p.Lys314Met)	not specified [RCV005309964]	uncertain significance	3	105740536	105740536	Human		name
598226930	CV3950404	single nucleotide variant	NM_170662.5(CBLB):c.397T>C (p.Tyr133His)	not specified [RCV005318838]	uncertain significance	3	105853436	105853436	Human		name
8687124	CV137556	single nucleotide variant	NM_170662.5(CBLB):c.1378A>G (p.Met460Val)	not specified [RCV000120469]	not provided	3	105720076	105720076	Human		name
8687125	CV137557	single nucleotide variant	NM_170662.5(CBLB):c.1396A>G (p.Asn466Asp)	CBLB-related disorder [RCV003915192]\|not specified [RCV000120470]	benign\|not provided	3	105720058	105720058	Human	1	name , trait , alternate_id
8687126	CV137558	single nucleotide variant	NM_170662.5(CBLB):c.1304G>A (p.Cys435Tyr)	not specified [RCV000120471]	not provided	3	105720150	105720150	Human		name
8687127	CV137560	single nucleotide variant	NM_170662.5(CBLB):c.1934A>G (p.His645Arg)	not specified [RCV000120473]	not provided	3	105702119	105702119	Human		name
8687128	CV137561	single nucleotide variant	NM_170662.5(CBLB):c.1670C>T (p.Pro557Leu)	not specified [RCV000120474]	not provided	3	105702383	105702383	Human		name
8687129	CV137562	single nucleotide variant	NM_170662.5(CBLB):c.1865G>C (p.Ser622Thr)	CBLB-related disorder [RCV003915193]\|not provided [RCV000885972]\|not specified [RCV000120475]	benign\|likely benign\|not provided	3	105702188	105702188	Human	1	name , trait , alternate_id
8687130	CV137563	single nucleotide variant	NM_170662.5(CBLB):c.1913T>C (p.Leu638Pro)	not specified [RCV000120476]	not provided	3	105702140	105702140	Human		name
8687131	CV137564	single nucleotide variant	NM_170662.5(CBLB):c.2647A>G (p.Asn883Asp)	CBLB-related disorder [RCV003925173]\|not specified [RCV000120477]	benign\|not provided	3	105670275	105670275	Human	1	name , trait , alternate_id
8687132	CV137565	single nucleotide variant	NM_170662.5(CBLB):c.2702C>G (p.Ala901Gly)	not specified [RCV000120478]	not provided	3	105659217	105659217	Human		name
8687133	CV137566	single nucleotide variant	NM_170662.5(CBLB):c.2881G>A (p.Glu961Lys)	not specified [RCV000120479]	not provided	3	105659038	105659038	Human		name
8687136	CV137569	single nucleotide variant	NM_170662.5(CBLB):c.1193C>T (p.Thr398Met)	not specified [RCV000120482]	not provided	3	105734019	105734019	Human		name
156224185	CV2229732	single nucleotide variant	NM_170662.5(CBLB):c.1820G>A (p.Cys607Tyr)	not specified [RCV004103532]	uncertain significance	3	105702233	105702233	Human		name
156384364	CV2231061	single nucleotide variant	NM_170662.5(CBLB):c.1811T>G (p.Leu604Arg)	not specified [RCV004094292]	uncertain significance	3	105702242	105702242	Human		name
156000723	CV2257781	single nucleotide variant	NM_170662.5(CBLB):c.2006C>T (p.Pro669Leu)	not specified [RCV004127846]	uncertain significance	3	105693542	105693542	Human		name
156140565	CV2260327	single nucleotide variant	NM_170662.5(CBLB):c.2026C>G (p.Pro676Ala)	not specified [RCV004129414]	uncertain significance	3	105693522	105693522	Human		name
156071908	CV2267379	single nucleotide variant	NM_170662.5(CBLB):c.2017C>T (p.Pro673Ser)	not specified [RCV004134035]	uncertain significance	3	105693531	105693531	Human		name
156083758	CV2289621	single nucleotide variant	NM_170662.5(CBLB):c.2310T>G (p.Asp770Glu)	not specified [RCV004148541]	uncertain significance	3	105681597	105681597	Human		name
156197684	CV2293591	single nucleotide variant	NM_170662.5(CBLB):c.2726G>A (p.Arg909Gln)	not specified [RCV004153111]	uncertain significance	3	105659193	105659193	Human		name
156078808	CV2300857	single nucleotide variant	NM_170662.5(CBLB):c.1208C>T (p.Ser403Leu)	not specified [RCV004158062]	uncertain significance	3	105720246	105720246	Human		name
156296965	CV2310470	single nucleotide variant	NM_170662.5(CBLB):c.2176T>C (p.Cys726Arg)	not specified [RCV004163497]	uncertain significance	3	105685345	105685345	Human		name
156067368	CV2317920	single nucleotide variant	NM_170662.5(CBLB):c.2665T>C (p.Tyr889His)	not specified [RCV004175142]	uncertain significance	3	105670257	105670257	Human		name
156273176	CV2320162	single nucleotide variant	NM_170662.5(CBLB):c.1334C>T (p.Pro445Leu)	not specified [RCV004169787]	uncertain significance	3	105720120	105720120	Human		name
155973870	CV2334485	single nucleotide variant	NM_170662.5(CBLB):c.2716C>G (p.Pro906Ala)	not specified [RCV004188453]	uncertain significance	3	105659203	105659203	Human		name
156000330	CV2396569	single nucleotide variant	NM_170662.5(CBLB):c.2197G>C (p.Val733Leu)	not specified [RCV004242269]	uncertain significance	3	105685324	105685324	Human		name
329376635	CV2438289	single nucleotide variant	NM_170662.5(CBLB):c.2801C>G (p.Ala934Gly)	not specified [RCV004257046]	uncertain significance	3	105659118	105659118	Human		name
329398940	CV2471803	single nucleotide variant	NM_170662.5(CBLB):c.2531G>A (p.Arg844Gln)	not specified [RCV004280842]	uncertain significance	3	105678469	105678469	Human		name
329954201	CV2671958	single nucleotide variant	NM_170662.5(CBLB):c.1402C>T (p.Arg468Ter)	Autoimmune disease, multisystem, infantile-onset, 3 [RCV003237386]	pathogenic	3	105720052	105720052	Human	1	name , alternate_id
329954203	CV2671959	single nucleotide variant	NM_170662.5(CBLB):c.1308C>G (p.Cys436Trp)	Autoimmune disease, multisystem, infantile-onset, 3 [RCV003237387]	pathogenic	3	105720146	105720146	Human	1	name , alternate_id
401726372	CV2674116	single nucleotide variant	NM_170662.5(CBLB):c.1802C>G (p.Thr601Ser)	not specified [RCV004295522]	uncertain significance	3	105702251	105702251	Human		name
401747748	CV2691674	single nucleotide variant	NM_170662.5(CBLB):c.1625A>C (p.Lys542Thr)	not specified [RCV004305484]	uncertain significance	3	105702428	105702428	Human		name
401760892	CV2706136	single nucleotide variant	NM_170662.5(CBLB):c.2107G>C (p.Glu703Gln)	not specified [RCV004314821]	uncertain significance	3	105685414	105685414	Human		name
401750695	CV2712080	single nucleotide variant	NM_170662.5(CBLB):c.1843C>A (p.Pro615Thr)	not specified [RCV004311818]	uncertain significance	3	105702210	105702210	Human		name
401766277	CV2714485	single nucleotide variant	NM_170662.5(CBLB):c.2665T>A (p.Tyr889Asn)	not specified [RCV004318008]	uncertain significance	3	105670257	105670257	Human		name
401768174	CV2727405	single nucleotide variant	NM_170662.5(CBLB):c.1315A>G (p.Ile439Val)	not specified [RCV004327499]	uncertain significance	3	105720139	105720139	Human		name
401883784	CV2764583	single nucleotide variant	NM_170662.5(CBLB):c.2174A>G (p.His725Arg)	not specified [RCV004339138]	uncertain significance	3	105685347	105685347	Human		name
401926688	CV2827607	single nucleotide variant	NM_170662.5(CBLB):c.1879G>C (p.Gly627Arg)	not provided [RCV003437937]	uncertain significance	3	105702174	105702174	Human		name
405738093	CV3292009	single nucleotide variant	NM_170662.5(CBLB):c.1314C>G (p.Ile438Met)	not specified [RCV004430273]	uncertain significance	3	105720140	105720140	Human		name
405738097	CV3292010	single nucleotide variant	NM_170662.5(CBLB):c.1423A>T (p.Asn475Tyr)	not specified [RCV004430274]	uncertain significance	3	105704158	105704158	Human		name
405738103	CV3292011	single nucleotide variant	NM_170662.5(CBLB):c.1560A>C (p.Arg520Ser)	not specified [RCV004430275]	uncertain significance	3	105704021	105704021	Human		name
405738111	CV3292012	single nucleotide variant	NM_170662.5(CBLB):c.1560A>T (p.Arg520Ser)	not specified [RCV004430276]	uncertain significance	3	105704021	105704021	Human		name
405738118	CV3292013	single nucleotide variant	NM_170662.5(CBLB):c.1628C>T (p.Pro543Leu)	not specified [RCV004430277]	uncertain significance	3	105702425	105702425	Human		name
405738124	CV3292014	single nucleotide variant	NM_170662.5(CBLB):c.1786C>T (p.Arg596Trp)	not specified [RCV004430278]	uncertain significance	3	105702267	105702267	Human		name
405738129	CV3292015	single nucleotide variant	NM_170662.5(CBLB):c.1918C>T (p.Arg640Trp)	not specified [RCV004430279]	uncertain significance	3	105702135	105702135	Human		name
405738139	CV3292016	single nucleotide variant	NM_170662.5(CBLB):c.1931G>T (p.Arg644Leu)	not specified [RCV004430280]	uncertain significance	3	105702122	105702122	Human		name
405738152	CV3292018	single nucleotide variant	NM_170662.5(CBLB):c.2110G>A (p.Glu704Lys)	not specified [RCV004430282]	uncertain significance	3	105685411	105685411	Human		name
405738158	CV3292019	single nucleotide variant	NM_170662.5(CBLB):c.2115T>A (p.Asp705Glu)	not specified [RCV004430283]	uncertain significance	3	105685406	105685406	Human		name
405738174	CV3292021	single nucleotide variant	NM_170662.5(CBLB):c.2540C>T (p.Ser847Leu)	not specified [RCV004430285]	uncertain significance	3	105678460	105678460	Human		name
405738183	CV3292022	single nucleotide variant	NM_170662.5(CBLB):c.2576T>C (p.Phe859Ser)	not specified [RCV004430286]	uncertain significance	3	105670346	105670346	Human		name
405738189	CV3292023	single nucleotide variant	NM_170662.5(CBLB):c.2620A>G (p.Arg874Gly)	not specified [RCV004430287]	uncertain significance	3	105670302	105670302	Human		name
407482352	CV3421964	single nucleotide variant	NM_170662.5(CBLB):c.1807C>A (p.Gln603Lys)	not specified [RCV004602666]	uncertain significance	3	105702246	105702246	Human		name
407454440	CV3421965	single nucleotide variant	NM_170662.5(CBLB):c.2152T>G (p.Ser718Ala)	not specified [RCV004609788]	uncertain significance	3	105685369	105685369	Human		name
407482355	CV3421966	single nucleotide variant	NM_170662.5(CBLB):c.2549A>G (p.Asp850Gly)	not specified [RCV004602667]	uncertain significance	3	105678451	105678451	Human		name
597785603	CV3641222	single nucleotide variant	NM_170662.5(CBLB):c.2150T>C (p.Val717Ala)	not specified [RCV004900769]	uncertain significance	3	105685371	105685371	Human		name
597761078	CV3641223	single nucleotide variant	NM_170662.5(CBLB):c.1388G>T (p.Arg463Leu)	not specified [RCV004894791]	uncertain significance	3	105720066	105720066	Human		name
597761073	CV3641224	single nucleotide variant	NM_170662.5(CBLB):c.1721A>G (p.His574Arg)	not specified [RCV004894792]	uncertain significance	3	105702332	105702332	Human		name
597785607	CV3641225	single nucleotide variant	NM_170662.5(CBLB):c.2389A>G (p.Arg797Gly)	not specified [RCV004900770]	uncertain significance	3	105681518	105681518	Human		name
597761068	CV3641226	single nucleotide variant	NM_170662.5(CBLB):c.1727A>T (p.His576Leu)	not specified [RCV004894793]	uncertain significance	3	105702326	105702326	Human		name
597785618	CV3641228	single nucleotide variant	NM_170662.5(CBLB):c.1831G>A (p.Gly611Arg)	not specified [RCV004900772]	uncertain significance	3	105702222	105702222	Human		name
598176018	CV3950398	single nucleotide variant	NM_170662.5(CBLB):c.1658A>T (p.Asp553Val)	not specified [RCV005309962]	uncertain significance	3	105702395	105702395	Human		name
598176025	CV3950399	single nucleotide variant	NM_170662.5(CBLB):c.2792A>T (p.Asn931Ile)	not specified [RCV005309963]	uncertain significance	3	105659127	105659127	Human		name
598176043	CV3950401	single nucleotide variant	NM_170662.5(CBLB):c.2292A>T (p.Leu764Phe)	not specified [RCV005309965]	uncertain significance	3	105681728	105681728	Human		name
598176050	CV3950402	single nucleotide variant	NM_170662.5(CBLB):c.1672C>T (p.Pro558Ser)	not specified [RCV005309966]	uncertain significance	3	105702381	105702381	Human		name
598226923	CV3950403	single nucleotide variant	NM_170662.5(CBLB):c.1685C>T (p.Pro562Leu)	not specified [RCV005318837]	uncertain significance	3	105702368	105702368	Human		name
616940146	CV4014547	single nucleotide variant	NM_170662.5(CBLB):c.2480C>T (p.Pro827Leu)	not provided [RCV005414041]	uncertain significance	3	105678520	105678520	Human		name
15150770	CV708445	single nucleotide variant	NM_170662.5(CBLB):c.2009G>A (p.Arg670Gln)	CBLB-related disorder [RCV003905942]\|not provided [RCV000968007]	benign\|likely benign	3	105693539	105693539	Human	1	name , trait , alternate_id
8630511	CV85666	single nucleotide variant	NM_170662.3(CBLB):c.2902C>T (p.Arg968Ter)	Malignant melanoma [RCV000065749]	not provided	3	105659017	105659017	Human		name
8686532	CV137559	duplication	NM_170662.5(CBLB):c.1860_1862dup (p.Ala621dup)	not specified [RCV000120472]	not provided	3	105702190	105702191	Human		name
126755860	CV1010088	deletion	NM_052845.4(MMAB):c.563_577del (p.Val188_Ala192del)	Methylmalonic aciduria, cblB type [RCV001317043]	pathogenic\|uncertain significance	12	109561047	109561061	Human	1	trait , alternate_id
126741624	CV1010089	single nucleotide variant	NM_052845.4(MMAB):c.41G>A (p.Ser14Asn)	Methylmalonic aciduria, cblB type [RCV001314546]	uncertain significance	12	109573440	109573440	Human	1	trait , alternate_id
8643154	CV102137	single nucleotide variant	NM_052845.4(MMAB):c.288T>C (p.Ile96=)	Hyperimmunoglobulin D with periodic fever [RCV000262496]\|Methylmalonic acidemia [RCV000338611]\|Methylmalonic aciduria, cblB type [RCV000555922]\|Mevalonic aciduria [RCV000319952]\|not provided [RCV004704846]\|not specified [RCV000082326]	benign\|likely benign	12	109568772	109568772	Human	5	trait , alternate_id
8643155	CV102138	single nucleotide variant	NM_052845.4(MMAB):c.568C>T (p.Arg190Cys)	Methylmalonic aciduria, cblB type [RCV000203347]\|not provided [RCV000790778]	pathogenic\|likely pathogenic	12	109561056	109561056	Human	1	trait , alternate_id
8643156	CV102139	single nucleotide variant	NM_052845.4(MMAB):c.716T>A (p.Met239Lys)	Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV001274799]\|Methylmalonic aciduria, cblB type [RCV000611494]\|not provided [RCV000590350]\|not specified [RCV000082328]	pathogenic\|benign	12	109557065	109557065	Human	3	trait , alternate_id
126919273	CV1047654	single nucleotide variant	NM_052845.4(MMAB):c.339G>C (p.Glu113Asp)	Methylmalonic aciduria, cblB type [RCV001362199]	uncertain significance	12	109565128	109565128	Human	1	trait , alternate_id
126915146	CV1047655	single nucleotide variant	NM_052845.4(MMAB):c.161G>A (p.Arg54Lys)	Methylmalonic aciduria, cblB type [RCV001359820]	uncertain significance	12	109571684	109571684	Human	1	trait , alternate_id
127247277	CV1056077	single nucleotide variant	NM_052845.4(MMAB):c.2T>G (p.Met1Arg)	Methylmalonic aciduria, cblB type [RCV001377746]	likely pathogenic	12	109573479	109573479	Human	1	trait , alternate_id
127273162	CV1062571	insertion	NM_052845.4(MMAB):c.643_644insTT (p.Arg215fs)	Methylmalonic aciduria, cblB type [RCV001390698]	pathogenic	12	109559096	109559097	Human		trait , alternate_id
127259110	CV1062572	single nucleotide variant	NM_052845.4(MMAB):c.220G>T (p.Glu74Ter)	Methylmalonic aciduria, cblB type [RCV001380085]	pathogenic	12	109568840	109568840	Human	1	trait , alternate_id
127275081	CV1079081	single nucleotide variant	NM_052845.4(MMAB):c.732G>C (p.Ser244=)	Methylmalonic aciduria, cblB type [RCV001406602]	likely benign	12	109557049	109557049	Human	1	trait , alternate_id
127246605	CV1079082	single nucleotide variant	NM_052845.4(MMAB):c.644+9G>A	Methylmalonic aciduria, cblB type [RCV001398997]	likely benign	12	109559087	109559087	Human	1	trait , alternate_id
127241747	CV1079083	single nucleotide variant	NM_052845.4(MMAB):c.644+8C>T	Methylmalonic aciduria, cblB type [RCV001415854]	likely benign	12	109559088	109559088	Human	1	trait , alternate_id
127270907	CV1079084	single nucleotide variant	NM_052845.4(MMAB):c.441G>C (p.Ala147=)	Methylmalonic aciduria, cblB type [RCV001405199]	likely benign	12	109561498	109561498	Human	1	trait , alternate_id
127230966	CV1079085	single nucleotide variant	NM_052845.4(MMAB):c.349-4C>G	Methylmalonic aciduria, cblB type [RCV001412825]	likely benign	12	109561856	109561856	Human	1	trait , alternate_id
127260070	CV1079086	single nucleotide variant	NM_052845.4(MMAB):c.348+7A>G	Methylmalonic aciduria, cblB type [RCV001419969]	likely benign	12	109565112	109565112	Human	1	trait , alternate_id
127236543	CV1079087	single nucleotide variant	NM_052845.4(MMAB):c.30T>C (p.Leu10=)	Methylmalonic aciduria, cblB type [RCV001392093]	likely benign	12	109573451	109573451	Human	1	trait , alternate_id
127274402	CV1100814	single nucleotide variant	NM_052845.4(MMAB):c.645-8C>G	Methylmalonic aciduria, cblB type [RCV001431954]	likely benign	12	109557144	109557144	Human	1	trait , alternate_id
127239627	CV1100815	microsatellite	NM_052845.4(MMAB):c.422-5_422-3del	Methylmalonic aciduria, cblB type [RCV001423156]	likely benign	12	109561520	109561522	Human		trait , alternate_id
127254345	CV1100816	single nucleotide variant	NM_052845.4(MMAB):c.369C>T (p.Asp123=)	Methylmalonic aciduria, cblB type [RCV001426285]	likely benign	12	109561832	109561832	Human	1	trait , alternate_id
127276802	CV1100817	single nucleotide variant	NM_052845.4(MMAB):c.349-8C>T	Methylmalonic aciduria, cblB type [RCV001432963]	likely benign	12	109561860	109561860	Human	1	trait , alternate_id
127278847	CV1100818	duplication	NM_052845.4(MMAB):c.291-3dup	Methylmalonic aciduria, cblB type [RCV001445367]	likely benign	12	109565178	109565179	Human	1	trait , alternate_id
127257193	CV1100819	single nucleotide variant	NM_052845.4(MMAB):c.135-4T>C	Methylmalonic aciduria, cblB type [RCV001437860]	likely benign	12	109571714	109571714	Human	1	trait , alternate_id
127239057	CV1100820	single nucleotide variant	NM_052845.4(MMAB):c.84G>A (p.Leu28=)	Methylmalonic aciduria, cblB type [RCV001433899]	likely benign	12	109573397	109573397	Human	1	trait , alternate_id
127276928	CV1100821	single nucleotide variant	NM_052845.4(MMAB):c.60G>T (p.Gly20=)	Methylmalonic aciduria, cblB type [RCV001444106]	likely benign	12	109573421	109573421	Human	1	trait , alternate_id
127281260	CV1100822	single nucleotide variant	NM_052845.4(MMAB):c.52C>T (p.Leu18=)	Methylmalonic aciduria, cblB type [RCV001447016]	likely benign	12	109573429	109573429	Human	1	trait , alternate_id
127300078	CV1122267	single nucleotide variant	NM_052845.4(MMAB):c.735C>T (p.Ala245=)	Methylmalonic aciduria, cblB type [RCV001453760]	likely benign	12	109557046	109557046	Human	1	trait , alternate_id
127327004	CV1122268	single nucleotide variant	NM_052845.4(MMAB):c.735C>G (p.Ala245=)	Methylmalonic aciduria, cblB type [RCV001468951]	likely benign	12	109557046	109557046	Human	1	trait , alternate_id
127291146	CV1122269	single nucleotide variant	NM_052845.4(MMAB):c.618T>C (p.Asp206=)	Methylmalonic aciduria, cblB type [RCV001475981]	likely benign	12	109559122	109559122	Human	1	trait , alternate_id
127298616	CV1122270	single nucleotide variant	NM_052845.4(MMAB):c.585-4C>G	Methylmalonic aciduria, cblB type [RCV001477950]	likely benign	12	109559159	109559159	Human	1	trait , alternate_id
127290362	CV1122271	single nucleotide variant	NM_052845.4(MMAB):c.457C>T (p.Leu153=)	Methylmalonic aciduria, cblB type [RCV001458418]	likely benign	12	109561482	109561482	Human	1	trait , alternate_id
127336215	CV1122272	single nucleotide variant	NM_052845.4(MMAB):c.408G>A (p.Arg136=)	Methylmalonic aciduria, cblB type [RCV001474826]	likely benign	12	109561793	109561793	Human	1	trait , alternate_id
127301640	CV1122273	single nucleotide variant	NM_052845.4(MMAB):c.360A>G (p.Thr120=)	Methylmalonic aciduria, cblB type [RCV001461447]	likely benign	12	109561841	109561841	Human	1	trait , alternate_id
127292536	CV1122274	deletion	NM_052845.4(MMAB):c.348+10_348+13del	Methylmalonic aciduria, cblB type [RCV001451779]	likely benign	12	109565106	109565109	Human	1	trait , alternate_id
127306843	CV1122275	single nucleotide variant	NM_052845.4(MMAB):c.297T>C (p.Ala99=)	Methylmalonic aciduria, cblB type [RCV001462868]	likely benign	12	109565170	109565170	Human	1	trait , alternate_id
127311490	CV1122276	single nucleotide variant	NM_052845.4(MMAB):c.168C>G (p.Pro56=)	Methylmalonic aciduria, cblB type [RCV001456913]	likely benign	12	109571677	109571677	Human	1	trait , alternate_id
127311268	CV1122277	single nucleotide variant	NM_052845.4(MMAB):c.91C>T (p.Arg31Cys)	Methylmalonic aciduria, cblB type [RCV001456833]	likely benign\|conflicting interpretations of pathogenicity	12	109573390	109573390	Human	1	trait , alternate_id
127311315	CV1143134	single nucleotide variant	NM_052845.4(MMAB):c.666G>T (p.Thr222=)	Methylmalonic aciduria, cblB type [RCV001501582]	likely benign	12	109557115	109557115	Human	1	trait , alternate_id
127333627	CV1143135	single nucleotide variant	NM_052845.4(MMAB):c.645-6C>T	Methylmalonic aciduria, cblB type [RCV001490298]	likely benign	12	109557142	109557142	Human	1	trait , alternate_id
127293977	CV1143136	single nucleotide variant	NM_052845.4(MMAB):c.543G>A (p.Ala181=)	Methylmalonic aciduria, cblB type [RCV001496888]	likely benign	12	109561081	109561081	Human	1	trait , alternate_id
127290533	CV1143137	single nucleotide variant	NM_052845.4(MMAB):c.525A>G (p.Gly175=)	Methylmalonic aciduria, cblB type [RCV001496001]	likely benign	12	109561099	109561099	Human	1	trait , alternate_id
127321689	CV1143138	single nucleotide variant	NM_052845.4(MMAB):c.349-8C>G	Methylmalonic aciduria, cblB type [RCV001504826]	likely benign	12	109561860	109561860	Human	1	trait , alternate_id
127308585	CV1143139	single nucleotide variant	NM_052845.4(MMAB):c.348+9C>T	Methylmalonic aciduria, cblB type [RCV001480651]	likely benign	12	109565110	109565110	Human	1	trait , alternate_id
127306998	CV1143140	single nucleotide variant	NM_052845.4(MMAB):c.258G>A (p.Val86=)	Methylmalonic aciduria, cblB type [RCV001480219]	likely benign	12	109568802	109568802	Human	1	trait , alternate_id
127301331	CV1143141	single nucleotide variant	NM_052845.4(MMAB):c.206G>A (p.Ser69Asn)	Methylmalonic aciduria, cblB type [RCV001478658]	likely benign	12	109568854	109568854	Human	1	trait , alternate_id
127318596	CV1143142	single nucleotide variant	NM_052845.4(MMAB):c.105C>T (p.Arg35=)	Methylmalonic aciduria, cblB type [RCV001483570]	likely benign	12	109573376	109573376	Human	1	trait , alternate_id
127287536	CV1163087	deletion	NM_052845.4(MMAB):c.656_659del (p.Tyr219fs)	Methylmalonic aciduria, cblB type [RCV001527457]	pathogenic	12	109557122	109557125	Human	1	trait , alternate_id
127287535	CV1163088	single nucleotide variant	NM_052845.4(MMAB):c.650G>T (p.Ser217Ile)	Methylmalonic aciduria, cblB type [RCV001527456]	pathogenic	12	109557131	109557131	Human	1	trait , alternate_id
127287533	CV1163089	microsatellite	NM_052845.4(MMAB):c.581_582dup (p.Arg195fs)	Methylmalonic aciduria, cblB type [RCV001527455]	pathogenic	12	109561041	109561042	Human		trait , alternate_id
127287532	CV1163090	insertion	NM_052845.4(MMAB):c.560_561insGGCACGGGC (p.Ala187_Val188insAlaArgAla)	Methylmalonic aciduria, cblB type [RCV001527454]	pathogenic	12	109561063	109561064	Human	1	trait , alternate_id
127287530	CV1163091	indel	NM_052845.4(MMAB):c.558_559delinsC (p.Ala187fs)	Methylmalonic aciduria, cblB type [RCV001527453]	pathogenic	12	109561065	109561066	Human		trait , alternate_id
127287528	CV1163092	single nucleotide variant	NM_052845.4(MMAB):c.487C>T (p.Gln163Ter)	Methylmalonic aciduria, cblB type [RCV001527452]	pathogenic	12	109561452	109561452	Human	1	trait , alternate_id
127287527	CV1163093	single nucleotide variant	NM_052845.4(MMAB):c.462G>T (p.Glu154Asp)	Methylmalonic aciduria, cblB type [RCV001527451]	pathogenic	12	109561477	109561477	Human	1	trait , alternate_id
127287526	CV1163094	single nucleotide variant	NM_052845.4(MMAB):c.422-1G>C	Methylmalonic aciduria, cblB type [RCV001527450]	pathogenic\|likely pathogenic	12	109561518	109561518	Human	1	trait , alternate_id
127287523	CV1163095	single nucleotide variant	NM_052845.4(MMAB):c.380C>A (p.Ala127Asp)	Methylmalonic aciduria, cblB type [RCV001527449]	pathogenic\|likely pathogenic	12	109561821	109561821	Human	1	trait , alternate_id
127287522	CV1163096	deletion	NM_052845.4(MMAB):c.367del (p.Asp123fs)	Methylmalonic acidemia [RCV003120620]\|Methylmalonic aciduria, cblB type [RCV001527448]	pathogenic	12	109561834	109561834	Human	3	trait , alternate_id
127287520	CV1163097	deletion	NM_052845.4(MMAB):c.348+2_348+3del	Methylmalonic aciduria, cblB type [RCV001527447]	pathogenic	12	109565116	109565117	Human	1	trait , alternate_id
127287518	CV1163098	single nucleotide variant	NM_052845.4(MMAB):c.291-1G>T	Methylmalonic aciduria, cblB type [RCV001527446]	pathogenic	12	109565177	109565177	Human	1	trait , alternate_id
127287516	CV1163099	single nucleotide variant	NM_052845.4(MMAB):c.135-1G>A	Methylmalonic aciduria, cblB type [RCV001527445]	pathogenic	12	109571711	109571711	Human	1	trait , alternate_id
127287514	CV1163100	single nucleotide variant	NM_052845.4(MMAB):c.87T>A (p.Tyr29Ter)	Methylmalonic aciduria, cblB type [RCV001527444]	pathogenic	12	109573394	109573394	Human	1	trait , alternate_id
127287511	CV1163101	deletion	NM_052845.4(MMAB):c.23del (p.Ser8fs)	Methylmalonic aciduria, cblB type [RCV001527443]	pathogenic	12	109573458	109573458	Human	1	trait , alternate_id
150330335	CV1166944	single nucleotide variant	NM_052845.4(MMAB):c.290+63T>C	Methylmalonic aciduria, cblB type [RCV001533431]\|not provided [RCV001539637]	benign	12	109568707	109568707	Human	2	trait , alternate_id
150330335	CV1166944	single nucleotide variant	NM_052845.4(MMAB):c.290+63T>C	Methylmalonic aciduria, cblB type [RCV001533431]\|not provided [RCV001539637]	benign	12	109568707	109568708	Human	2	trait , alternate_id
150413346	CV1199617	single nucleotide variant	NM_052845.4(MMAB):c.472G>A (p.Asp158Asn)	Inborn genetic diseases [RCV002573243]\|Methylmalonic aciduria, cblB type [RCV001578622]	uncertain significance	12	109561467	109561467	Human	2	trait , alternate_id
150413350	CV1199618	single nucleotide variant	NM_052845.4(MMAB):c.35T>C (p.Leu12Pro)	Methylmalonic aciduria, cblB type [RCV001578623]	uncertain significance	12	109573446	109573446	Human	1	trait , alternate_id
150528631	CV1288416	single nucleotide variant	NM_052845.4(MMAB):c.685A>G (p.Met229Val)	Methylmalonic aciduria, cblB type [RCV005005998]\|not provided [RCV001726884]	uncertain significance	12	109557096	109557096	Human	1	trait , alternate_id
151351458	CV1323464	single nucleotide variant	NM_052845.4(MMAB):c.580A>G (p.Arg194Gly)	Methylmalonic aciduria, cblB type [RCV001806320]	likely pathogenic	12	109561044	109561044	Human	1	trait , alternate_id
151767238	CV1348697	single nucleotide variant	NM_052845.4(MMAB):c.604A>G (p.Met202Val)	Methylmalonic aciduria, cblB type [RCV001895983]	uncertain significance	12	109559136	109559136	Human	1	trait , alternate_id
151780331	CV1363646	single nucleotide variant	NM_052845.4(MMAB):c.519+17C>T	Methylmalonic aciduria, cblB type [RCV001864904]	likely benign\|uncertain significance	12	109561403	109561403	Human	1	trait , alternate_id
151843538	CV1375627	single nucleotide variant	NM_052845.4(MMAB):c.249T>G (p.Phe83Leu)	Methylmalonic aciduria, cblB type [RCV001995048]	uncertain significance	12	109568811	109568811	Human	1	trait , alternate_id
151779279	CV1392573	single nucleotide variant	NM_052845.4(MMAB):c.467G>A (p.Trp156Ter)	Methylmalonic aciduria, cblB type [RCV001897087]	pathogenic	12	109561472	109561472	Human	1	trait , alternate_id
151878186	CV1416028	single nucleotide variant	NM_052845.4(MMAB):c.326C>T (p.Thr109Ile)	Methylmalonic aciduria, cblB type [RCV001926092]	uncertain significance	12	109565141	109565141	Human	1	trait , alternate_id
151754694	CV1429675	single nucleotide variant	NM_052845.4(MMAB):c.523G>T (p.Gly175Ter)	MMAB-related disorder [RCV003401960]\|Methylmalonic aciduria, cblB type [RCV002007211]	pathogenic	12	109561101	109561101	Human	1	trait , alternate_id
151884999	CV1444742	single nucleotide variant	NM_052845.4(MMAB):c.638T>G (p.Leu213Ter)	Methylmalonic aciduria, cblB type [RCV001941853]	pathogenic	12	109559102	109559102	Human	1	trait , alternate_id
151885101	CV1444786	deletion	NC_000012.11:g.(?_110011228)_(110017709_?)del	Methylmalonic aciduria, cblB type [RCV001941877]	pathogenic				Human	1	trait , alternate_id
151872852	CV1444807	single nucleotide variant	NM_052845.4(MMAB):c.197-1G>A	Methylmalonic aciduria, cblB type [RCV001960672]	pathogenic	12	109568864	109568864	Human	1	trait , alternate_id
151810244	CV1446439	single nucleotide variant	NM_052845.4(MMAB):c.421+1G>A	Methylmalonic aciduria, cblB type [RCV002012364]	likely pathogenic	12	109561779	109561779	Human	1	trait , alternate_id
151745280	CV1450362	deletion	NM_052845.4(MMAB):c.330del (p.Phe110fs)	Methylmalonic aciduria, cblB type [RCV001893701]	pathogenic	12	109565137	109565137	Human	1	trait , alternate_id
151867645	CV1451425	single nucleotide variant	NM_052845.4(MMAB):c.460G>T (p.Glu154Ter)	Methylmalonic aciduria, cblB type [RCV001939364]	pathogenic	12	109561479	109561479	Human	1	trait , alternate_id
151734363	CV1497777	duplication	NM_052845.4(MMAB):c.61dup (p.Cys21fs)	Methylmalonic aciduria, cblB type [RCV001984532]	pathogenic	12	109573419	109573420	Human	1	trait , alternate_id
151735422	CV1508842	single nucleotide variant	NM_052845.4(MMAB):c.490C>T (p.Leu164Phe)	Methylmalonic aciduria, cblB type [RCV002021752]	uncertain significance	12	109561449	109561449	Human	1	trait , alternate_id
151853295	CV1514561	single nucleotide variant	NM_052845.4(MMAB):c.644+6C>T	Methylmalonic aciduria, cblB type [RCV001979223]	uncertain significance	12	109559090	109559090	Human	1	trait , alternate_id
152126977	CV1530213	single nucleotide variant	NM_052845.4(MMAB):c.591G>A (p.Val197=)	Methylmalonic aciduria, cblB type [RCV002198806]	likely benign	12	109559149	109559149	Human	1	trait , alternate_id
152070651	CV1535432	single nucleotide variant	NM_052845.4(MMAB):c.348+17C>T	Methylmalonic aciduria, cblB type [RCV002111402]	likely benign	12	109565102	109565102	Human	1	trait , alternate_id
152119885	CV1547298	single nucleotide variant	NM_052845.4(MMAB):c.456G>A (p.Glu152=)	Methylmalonic aciduria, cblB type [RCV002081407]	likely benign	12	109561483	109561483	Human	1	trait , alternate_id
152046335	CV1548254	single nucleotide variant	NM_052845.4(MMAB):c.165C>T (p.Ile55=)	Methylmalonic aciduria, cblB type [RCV002071635]	likely benign	12	109571680	109571680	Human	1	trait , alternate_id
152167504	CV1558049	single nucleotide variant	NM_052845.4(MMAB):c.135-8C>T	Methylmalonic aciduria, cblB type [RCV002182188]	likely benign	12	109571718	109571718	Human	1	trait , alternate_id
152114239	CV1559361	single nucleotide variant	NM_052845.4(MMAB):c.381C>T (p.Ala127=)	Methylmalonic aciduria, cblB type [RCV002174715]	likely benign	12	109561820	109561820	Human	1	trait , alternate_id
152175976	CV1562111	single nucleotide variant	NM_052845.4(MMAB):c.417C>T (p.His139=)	Methylmalonic aciduria, cblB type [RCV002164115]	likely benign	12	109561784	109561784	Human	1	trait , alternate_id
152176055	CV1562227	single nucleotide variant	NM_052845.4(MMAB):c.132C>T (p.Asp44=)	Methylmalonic aciduria, cblB type [RCV002164195]	likely benign	12	109573349	109573349	Human	1	trait , alternate_id
152158109	CV1564336	single nucleotide variant	NM_052845.4(MMAB):c.342T>A (p.Leu114=)	Methylmalonic aciduria, cblB type [RCV002140456]	likely benign	12	109565125	109565125	Human	1	trait , alternate_id
152148726	CV1566364	single nucleotide variant	NM_052845.4(MMAB):c.579G>A (p.Glu193=)	Methylmalonic aciduria, cblB type [RCV002139197]	likely benign	12	109561045	109561045	Human	1	trait , alternate_id
152151942	CV1572402	single nucleotide variant	NM_052845.4(MMAB):c.54G>A (p.Leu18=)	Methylmalonic aciduria, cblB type [RCV002139651]	likely benign	12	109573427	109573427	Human	1	trait , alternate_id
152103569	CV1574639	single nucleotide variant	NM_052845.4(MMAB):c.177C>T (p.Tyr59=)	Methylmalonic aciduria, cblB type [RCV002095846]	likely benign	12	109571668	109571668	Human	1	trait , alternate_id
152132246	CV1578508	single nucleotide variant	NM_052845.4(MMAB):c.423G>A (p.Lys141=)	Methylmalonic aciduria, cblB type [RCV002155696]	likely benign	12	109561516	109561516	Human	1	trait , alternate_id
152026860	CV1583153	single nucleotide variant	NM_052845.4(MMAB):c.66C>T (p.Phe22=)	Methylmalonic aciduria, cblB type [RCV002084939]	likely benign	12	109573415	109573415	Human	1	trait , alternate_id
152106628	CV1591756	single nucleotide variant	NM_052845.4(MMAB):c.108C>T (p.Gly36=)	Methylmalonic aciduria, cblB type [RCV002214900]	likely benign	12	109573373	109573373	Human	1	trait , alternate_id
152063054	CV1594613	single nucleotide variant	NM_052845.4(MMAB):c.451C>T (p.Leu151=)	Methylmalonic aciduria, cblB type [RCV002110362]	likely benign	12	109561488	109561488	Human	1	trait , alternate_id
152051804	CV1597059	single nucleotide variant	NM_052845.4(MMAB):c.441G>A (p.Ala147=)	Methylmalonic aciduria, cblB type [RCV002166971]	likely benign	12	109561498	109561498	Human	1	trait , alternate_id
152087105	CV1601133	single nucleotide variant	NM_052845.4(MMAB):c.585-10C>T	Methylmalonic aciduria, cblB type [RCV002093633]	likely benign	12	109559165	109559165	Human	1	trait , alternate_id
152137284	CV1603709	single nucleotide variant	NM_052845.4(MMAB):c.507C>T (p.Ala169=)	Methylmalonic aciduria, cblB type [RCV002218892]	likely benign	12	109561432	109561432	Human	1	trait , alternate_id
152052958	CV1619183	single nucleotide variant	NM_052845.4(MMAB):c.573G>C (p.Arg191=)	Methylmalonic aciduria, cblB type [RCV002167099]	likely benign	12	109561051	109561051	Human	1	trait , alternate_id
152032778	CV1629509	single nucleotide variant	NM_052845.4(MMAB):c.60G>A (p.Gly20=)	Methylmalonic aciduria, cblB type [RCV002106434]	likely benign	12	109573421	109573421	Human	1	trait , alternate_id
152076074	CV1632643	single nucleotide variant	NM_052845.4(MMAB):c.414T>G (p.Ala138=)	Methylmalonic aciduria, cblB type [RCV002169931]	likely benign	12	109561787	109561787	Human	1	trait , alternate_id
152044047	CV1637783	single nucleotide variant	NM_052845.4(MMAB):c.255C>T (p.Ala85=)	Methylmalonic aciduria, cblB type [RCV002144873]	likely benign	12	109568805	109568805	Human	1	trait , alternate_id
152044533	CV1637857	single nucleotide variant	NM_052845.4(MMAB):c.465G>A (p.Gln155=)	Methylmalonic aciduria, cblB type [RCV002144929]	likely benign	12	109561474	109561474	Human	1	trait , alternate_id
152154157	CV1643626	single nucleotide variant	NM_052845.4(MMAB):c.52C>A (p.Leu18Met)	Methylmalonic aciduria, cblB type [RCV002122178]	likely benign	12	109573429	109573429	Human	1	trait , alternate_id
152072272	CV1643711	single nucleotide variant	NM_052845.4(MMAB):c.432G>A (p.Thr144=)	Methylmalonic aciduria, cblB type [RCV002111616]	likely benign	12	109561507	109561507	Human	1	trait , alternate_id
152040969	CV1644235	single nucleotide variant	NM_052845.4(MMAB):c.126C>T (p.Asp42=)	Methylmalonic aciduria, cblB type [RCV002126087]	likely benign	12	109573355	109573355	Human	1	trait , alternate_id
152094004	CV1648797	single nucleotide variant	NM_052845.4(MMAB):c.144T>G (p.Pro48=)	Methylmalonic aciduria, cblB type [RCV002078091]	likely benign	12	109571701	109571701	Human	1	trait , alternate_id
152043327	CV1650796	single nucleotide variant	NM_052845.4(MMAB):c.513C>T (p.Ile171=)	Methylmalonic aciduria, cblB type [RCV002165977]	likely benign	12	109561426	109561426	Human	1	trait , alternate_id
152068201	CV1653982	single nucleotide variant	NM_052845.4(MMAB):c.57C>G (p.Arg19=)	Methylmalonic aciduria, cblB type [RCV002111087]	likely benign	12	109573424	109573424	Human	1	trait , alternate_id
152150437	CV1661461	single nucleotide variant	NM_052845.4(MMAB):c.189A>G (p.Gly63=)	Methylmalonic aciduria, cblB type [RCV002179364]	likely benign	12	109571656	109571656	Human	1	trait , alternate_id
152099983	CV1664045	single nucleotide variant	NM_052845.4(MMAB):c.349-5C>T	Methylmalonic aciduria, cblB type [RCV002078860]	likely benign	12	109561857	109561857	Human	1	trait , alternate_id
152135586	CV1664240	single nucleotide variant	NM_052845.4(MMAB):c.243A>G (p.Gln81=)	Methylmalonic aciduria, cblB type [RCV002156092]	likely benign	12	109568817	109568817	Human	1	trait , alternate_id
8596023	CV18134	single nucleotide variant	NM_052845.4(MMAB):c.556C>T (p.Arg186Trp)	Inborn genetic diseases [RCV002512694]\|MMAB-related disorder [RCV003398428]\|Methylmalonic acidemia [RCV000296390]\|Methylmalonic aciduria, cblB type [RCV000003241]\|not provided [RCV000186017]	pathogenic\|likely pathogenic	12	109561068	109561068	Human	4	trait , alternate_id
8557209	CV18136	deletion	NM_052845.4(MMAB):c.573_577del (p.Ala192fs)	Methylmalonic aciduria, cblB type [RCV000003243]	pathogenic	12	109561047	109561051	Human	1	trait , alternate_id
155999450	CV1872703	single nucleotide variant	NM_052845.4(MMAB):c.689A>C (p.Lys230Thr)	Inborn genetic diseases [RCV005377252]\|Methylmalonic aciduria, cblB type [RCV003076510]	uncertain significance	12	109557092	109557092	Human	2	trait , alternate_id
156393349	CV1876121	single nucleotide variant	NM_052845.4(MMAB):c.66C>G (p.Phe22Leu)	Methylmalonic aciduria, cblB type [RCV003068281]	uncertain significance	12	109573415	109573415	Human	1	trait , alternate_id
156044230	CV1887347	single nucleotide variant	NM_052845.4(MMAB):c.492C>G (p.Leu164=)	Methylmalonic aciduria, cblB type [RCV003078639]	likely benign	12	109561447	109561447	Human	1	trait , alternate_id
156002736	CV1895668	single nucleotide variant	NM_052845.4(MMAB):c.186G>A (p.Thr62=)	Methylmalonic aciduria, cblB type [RCV003098877]	likely benign	12	109571659	109571659	Human	1	trait , alternate_id
156138109	CV1911187	single nucleotide variant	NM_052845.4(MMAB):c.660C>G (p.Leu220=)	Methylmalonic aciduria, cblB type [RCV002623556]	likely benign	12	109557121	109557121	Human	1	trait , alternate_id
156406459	CV1921590	single nucleotide variant	NM_052845.4(MMAB):c.430A>G (p.Thr144Ala)	Methylmalonic aciduria, cblB type [RCV002606595]	uncertain significance	12	109561509	109561509	Human	1	trait , alternate_id
156041862	CV1926905	single nucleotide variant	NM_052845.4(MMAB):c.616G>A (p.Asp206Asn)	Methylmalonic aciduria, cblB type [RCV002637608]	uncertain significance	12	109559124	109559124	Human	1	trait , alternate_id
156410850	CV1929147	deletion	NM_052845.4(MMAB):c.422-19del	Methylmalonic aciduria, cblB type [RCV002608003]	likely benign	12	109561536	109561536	Human	1	trait , alternate_id
156060558	CV1930980	single nucleotide variant	NM_052845.4(MMAB):c.731C>T (p.Ser244Leu)	Inborn genetic diseases [RCV002644158]\|Methylmalonic aciduria, cblB type [RCV002638270]	uncertain significance	12	109557050	109557050	Human	2	trait , alternate_id
156444100	CV1937622	single nucleotide variant	NM_052845.4(MMAB):c.425A>C (p.Tyr142Ser)	Methylmalonic aciduria, cblB type [RCV003115019]	uncertain significance	12	109561514	109561514	Human	1	trait , alternate_id
156449931	CV1938439	single nucleotide variant	NM_052845.4(MMAB):c.676T>C (p.Tyr226His)	Methylmalonic aciduria, cblB type [RCV003122062]	uncertain significance	12	109557105	109557105	Human	1	trait , alternate_id
156450801	CV1950684	deletion	NC_000012.11:g.(?_109991510)_(109994951_?)del	Methylmalonic aciduria, cblB type [RCV003122976]	pathogenic				Human	1	trait , alternate_id
156450802	CV1950685	deletion	NC_000012.11:g.(?_110009444)_(110012715_?)del	Methylmalonic aciduria, cblB type [RCV003122977]	pathogenic				Human	1	trait , alternate_id
10052861	CV195436	single nucleotide variant	NM_052845.4(MMAB):c.519+10G>A	Methylmalonic aciduria, cblB type [RCV001081293]\|not provided [RCV000179548]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	12	109561410	109561410	Human	1	trait , alternate_id
156229461	CV1959077	single nucleotide variant	NM_052845.4(MMAB):c.652G>A (p.Asp218Asn)	Methylmalonic aciduria, cblB type [RCV002596753]	uncertain significance	12	109557129	109557129	Human	1	trait , alternate_id
156419765	CV1970533	single nucleotide variant	NM_052845.4(MMAB):c.621G>A (p.Ala207=)	Methylmalonic aciduria, cblB type [RCV002613007]	likely benign	12	109559119	109559119	Human	1	trait , alternate_id
155908352	CV1979924	single nucleotide variant	NM_052845.4(MMAB):c.432G>T (p.Thr144=)	Methylmalonic aciduria, cblB type [RCV002613808]	likely benign	12	109561507	109561507	Human	1	trait , alternate_id
10058842	CV200226	single nucleotide variant	NM_052845.4(MMAB):c.700C>T (p.Gln234Ter)	Methylmalonic acidemia [RCV000780427]\|Methylmalonic aciduria, cblB type [RCV000190603]\|not provided [RCV000420410]	pathogenic	12	109557081	109557081	Human	3	trait , alternate_id
10058843	CV200227	duplication	NM_052845.4(MMAB):c.563_577dup (p.Val188_Ala192dup)	Methylmalonic acidemia [RCV001804922]\|Methylmalonic aciduria, cblB type [RCV000669812]\|not provided [RCV000186021]	pathogenic\|likely pathogenic	12	109561046	109561047	Human	3	trait , alternate_id
10058841	CV200228	single nucleotide variant	NM_052845.4(MMAB):c.569G>A (p.Arg190His)	Methylmalonic acidemia [RCV001420745]\|Methylmalonic aciduria, cblB type [RCV000203392]\|not provided [RCV000186018]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	12	109561055	109561055	Human	3	trait , alternate_id
10056252	CV200229	single nucleotide variant	NM_052845.4(MMAB):c.407G>A (p.Arg136Gln)	Inborn genetic diseases [RCV005377682]\|Methylmalonic aciduria, cblB type [RCV005006781]	uncertain significance	12	109561794	109561794	Human	2	trait , alternate_id
10056251	CV200230	single nucleotide variant	NM_052845.4(MMAB):c.185C>T (p.Thr62Met)	Hyperimmunoglobulin D with periodic fever [RCV001112610]\|MMAB-related disorder [RCV003927724]\|Methylmalonic aciduria, cblB type [RCV000539204]\|Mevalonic aciduria [RCV001112609]\|not provided [RCV001704966]\|not specified [RCV001804921]	benign\|likely benign	12	109571660	109571660	Human	3	trait , alternate_id
10056253	CV200231	single nucleotide variant	NM_052845.4(MMAB):c.61T>A (p.Cys21Ser)	Methylmalonic aciduria, cblB type [RCV002024925]	uncertain significance	12	109573420	109573420	Human	1	trait , alternate_id
156095710	CV2012812	single nucleotide variant	NM_052845.4(MMAB):c.294T>C (p.Phe98=)	Methylmalonic aciduria, cblB type [RCV002706478]	likely benign	12	109565173	109565173	Human	1	trait , alternate_id
156231767	CV2024395	single nucleotide variant	NM_052845.4(MMAB):c.585-16T>C	Methylmalonic aciduria, cblB type [RCV002745332]	likely benign	12	109559171	109559171	Human	1	trait , alternate_id
155934548	CV2027453	single nucleotide variant	NM_052845.4(MMAB):c.27T>G (p.Arg9=)	Methylmalonic aciduria, cblB type [RCV002774775]	likely benign	12	109573454	109573454	Human	1	trait , alternate_id
156236781	CV2031617	single nucleotide variant	NM_052845.4(MMAB):c.18G>A (p.Leu6=)	Methylmalonic aciduria, cblB type [RCV002745520]	likely benign	12	109573463	109573463	Human	1	trait , alternate_id
155942486	CV2034705	single nucleotide variant	NM_052845.4(MMAB):c.102C>T (p.Ser34=)	Methylmalonic aciduria, cblB type [RCV002775284]	likely benign	12	109573379	109573379	Human	1	trait , alternate_id
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		trait , alternate_id
10398659	CV204457	microsatellite	NM_052845.4(MMAB):c.19GGGAGCCGTCTTGGCCTG[1] (p.7GSRLGL[1])	Methylmalonic aciduria, cblB type [RCV000190395]	uncertain significance\|not provided	12	109573427	109573444	Human		trait , alternate_id
156009290	CV2045310	single nucleotide variant	NM_052845.4(MMAB):c.585-18T>C	Methylmalonic aciduria, cblB type [RCV002780050]	likely benign	12	109559173	109559173	Human	1	trait , alternate_id
156001251	CV2045576	duplication	NM_052845.4(MMAB):c.649dup (p.Ser217fs)	Methylmalonic aciduria, cblB type [RCV002756216]	pathogenic	12	109557131	109557132	Human	1	trait , alternate_id
156189237	CV2052332	single nucleotide variant	NM_052845.4(MMAB):c.108C>A (p.Gly36=)	Methylmalonic aciduria, cblB type [RCV002828557]	likely benign	12	109573373	109573373	Human	1	trait , alternate_id
156003206	CV2057585	single nucleotide variant	NM_052845.4(MMAB):c.6T>A (p.Ala2=)	Methylmalonic aciduria, cblB type [RCV002819755]	likely benign	12	109573475	109573475	Human	1	trait , alternate_id
156158912	CV2063637	single nucleotide variant	NM_052845.4(MMAB):c.134+10T>G	Methylmalonic aciduria, cblB type [RCV002851134]	likely benign	12	109573337	109573337	Human	1	trait , alternate_id
156004349	CV2064682	single nucleotide variant	NM_052845.4(MMAB):c.585-9C>T	Methylmalonic aciduria, cblB type [RCV002843559]	likely benign	12	109559164	109559164	Human	1	trait , alternate_id
156288970	CV2068710	single nucleotide variant	NM_052845.4(MMAB):c.555C>T (p.Cys185=)	Methylmalonic aciduria, cblB type [RCV002856670]	likely benign	12	109561069	109561069	Human	1	trait , alternate_id
156232549	CV2075074	single nucleotide variant	NM_052845.4(MMAB):c.349-8C>A	Methylmalonic aciduria, cblB type [RCV002830106]	likely benign	12	109561860	109561860	Human	1	trait , alternate_id
156010050	CV2075495	single nucleotide variant	NM_052845.4(MMAB):c.360A>C (p.Thr120=)	Methylmalonic aciduria, cblB type [RCV002843823]	likely benign	12	109561841	109561841	Human	1	trait , alternate_id
156012845	CV2076250	duplication	NM_052845.4(MMAB):c.546_555dup (p.Arg186fs)	Methylmalonic aciduria, cblB type [RCV002866197]	pathogenic	12	109561068	109561069	Human	1	trait , alternate_id
155953200	CV2081117	deletion	NM_052845.4(MMAB):c.545_570del (p.Leu182fs)	Methylmalonic aciduria, cblB type [RCV002880621]	pathogenic	12	109561054	109561079	Human	1	trait , alternate_id
156019021	CV2081284	single nucleotide variant	NM_052845.4(MMAB):c.645-8C>T	Methylmalonic aciduria, cblB type [RCV002866509]	likely benign	12	109557144	109557144	Human	1	trait , alternate_id
156102746	CV2084245	single nucleotide variant	NM_052845.4(MMAB):c.219A>G (p.Gly73=)	Methylmalonic aciduria, cblB type [RCV002848144]	likely benign	12	109568841	109568841	Human	1	trait , alternate_id
156229344	CV2085152	single nucleotide variant	NM_052845.4(MMAB):c.134+2T>A	Methylmalonic aciduria, cblB type [RCV002876177]	likely pathogenic	12	109573345	109573345	Human	1	trait , alternate_id
155965621	CV2085613	single nucleotide variant	NM_052845.4(MMAB):c.597T>C (p.Leu199=)	Methylmalonic aciduria, cblB type [RCV002881240]	likely benign	12	109559143	109559143	Human	1	trait , alternate_id
156210054	CV2117689	single nucleotide variant	NM_052845.4(MMAB):c.78G>A (p.Arg26=)	Methylmalonic aciduria, cblB type [RCV002957705]	likely benign	12	109573403	109573403	Human	1	trait , alternate_id
155908111	CV2144583	single nucleotide variant	NM_052845.4(MMAB):c.520-4T>C	Methylmalonic aciduria, cblB type [RCV003012055]	likely benign	12	109561108	109561108	Human	1	trait , alternate_id
156300338	CV2149680	single nucleotide variant	NM_052845.4(MMAB):c.702A>G (p.Gln234=)	Methylmalonic aciduria, cblB type [RCV003028060]	likely benign	12	109557079	109557079	Human	1	trait , alternate_id
10450081	CV215029	single nucleotide variant	NM_052845.4(MMAB):c.584G>A (p.Arg195His)	Methylmalonic acidemia [RCV000780426]\|Methylmalonic aciduria, cblB type [RCV000202574]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	12	109561040	109561040	Human	3	trait , alternate_id
10450084	CV215030	single nucleotide variant	NM_052845.4(MMAB):c.287T>C (p.Ile96Thr)	Methylmalonic aciduria, cblB type [RCV000202588]	pathogenic	12	109568773	109568773	Human	1	trait , alternate_id
10450086	CV215031	single nucleotide variant	NM_052845.4(MMAB):c.571C>T (p.Arg191Trp)	Inborn genetic diseases [RCV002515492]\|Methylmalonic aciduria, cblB type [RCV000202597]\|not provided [RCV000414492]	pathogenic\|likely pathogenic	12	109561053	109561053	Human	2	trait , alternate_id
10450082	CV215032	single nucleotide variant	NM_052845.4(MMAB):c.349-1G>C	Methylmalonic aciduria, cblB type [RCV000202577]\|not provided [RCV004812307]	pathogenic\|likely pathogenic	12	109561853	109561853	Human	1	trait , alternate_id
10450085	CV215033	single nucleotide variant	NM_052845.4(MMAB):c.290G>A (p.Gly97Glu)	Methylmalonic aciduria, cblB type [RCV000202589]	pathogenic\|likely pathogenic	12	109568770	109568770	Human	1	trait , alternate_id
10450087	CV215034	microsatellite	NM_052845.4(MMAB):c.567CCG[3] (p.Arg191dup)	Methylmalonic acidemia [RCV002509298]\|Methylmalonic aciduria, cblB type [RCV000202602]	pathogenic\|likely pathogenic	12	109561051	109561052	Human		trait , alternate_id
10450083	CV215035	single nucleotide variant	NM_052845.4(MMAB):c.548A>T (p.His183Leu)	Methylmalonic aciduria, cblB type [RCV000202581]\|not specified [RCV001804941]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	12	109561076	109561076	Human	1	trait , alternate_id
156154022	CV2150678	single nucleotide variant	NM_052845.4(MMAB):c.42C>T (p.Ser14=)	Methylmalonic aciduria, cblB type [RCV003022953]	likely benign	12	109573439	109573439	Human	1	trait , alternate_id
156184481	CV2152052	single nucleotide variant	NM_052845.4(MMAB):c.111T>G (p.Pro37=)	Methylmalonic aciduria, cblB type [RCV003005811]	likely benign	12	109573370	109573370	Human	1	trait , alternate_id
156367752	CV2160097	single nucleotide variant	NM_052845.4(MMAB):c.330T>C (p.Phe110=)	Methylmalonic aciduria, cblB type [RCV003032001]	likely benign	12	109565137	109565137	Human	1	trait , alternate_id
10766745	CV216055	single nucleotide variant	NM_052845.4(MMAB):c.656A>G (p.Tyr219Cys)	Methylmalonic aciduria, cblB type [RCV000203386]\|not provided [RCV000424166]\|not specified [RCV002509300]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	12	109557125	109557125	Human	1	trait , alternate_id
10766731	CV216056	single nucleotide variant	NM_052845.4(MMAB):c.572G>A (p.Arg191Gln)	Inborn genetic diseases [RCV002517365]\|Methylmalonic aciduria, cblB type [RCV000203356]\|not provided [RCV002281067]	pathogenic\|likely pathogenic	12	109561052	109561052	Human	2	trait , alternate_id
10766747	CV216057	single nucleotide variant	NM_052845.4(MMAB):c.403G>A (p.Ala135Thr)	MMAB-related disorder [RCV003967547]\|Methylmalonic aciduria, cblB type [RCV000203394]\|not provided [RCV000482151]\|not specified [RCV002271462]	pathogenic\|benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	12	109561798	109561798	Human	1	trait , alternate_id
10766726	CV216058	single nucleotide variant	NM_052845.4(MMAB):c.291-1G>A	Methylmalonic acidemia [RCV001194232]\|Methylmalonic aciduria, cblB type [RCV000203348]\|not provided [RCV000727663]	pathogenic\|likely pathogenic	12	109565177	109565177	Human	3	trait , alternate_id
10766719	CV216059	single nucleotide variant	NM_052845.4(MMAB):c.197-1G>T	Methylmalonic acidemia [RCV000590462]\|Methylmalonic aciduria [RCV004798809]\|Methylmalonic aciduria, cblB type [RCV000203326]	pathogenic\|likely pathogenic	12	109568864	109568864	Human	4	trait , alternate_id
10766743	CV216060	indel	NM_052845.4(MMAB):c.56_57delinsAA (p.Arg19Gln)	Methylmalonic aciduria, cblB type [RCV000408901]\|not provided [RCV000589479]	pathogenic\|benign\|likely benign\|conflicting interpretations of pathogenicity	12	109573424	109573425	Human		trait , alternate_id
156136499	CV2165703	single nucleotide variant	NM_052845.4(MMAB):c.196+9G>A	Methylmalonic aciduria, cblB type [RCV003022371]	likely benign	12	109571640	109571640	Human	1	trait , alternate_id
156177565	CV2166443	single nucleotide variant	NM_052845.4(MMAB):c.633G>A (p.Lys211=)	Methylmalonic aciduria, cblB type [RCV003023724]	likely benign	12	109559107	109559107	Human	1	trait , alternate_id
156093034	CV2167170	single nucleotide variant	NM_052845.4(MMAB):c.570C>T (p.Arg190=)	Methylmalonic aciduria, cblB type [RCV003038288]	likely benign	12	109561054	109561054	Human	1	trait , alternate_id
156241420	CV2177153	deletion	NM_052845.4(MMAB):c.266del (p.Thr89fs)	Methylmalonic aciduria, cblB type [RCV003043456]	pathogenic	12	109568794	109568794	Human	1	trait , alternate_id
156168437	CV2190172	single nucleotide variant	NM_052845.4(MMAB):c.290+7G>C	Methylmalonic aciduria, cblB type [RCV003040957]	likely benign	12	109568763	109568763	Human	1	trait , alternate_id
11075185	CV227103	single nucleotide variant	NM_052845.4(MMAB):c.563T>G (p.Val188Gly)	Methylmalonic aciduria, cblB type [RCV000210838]	pathogenic	12	109561061	109561061	Human	1	trait , alternate_id
11075190	CV227104	single nucleotide variant	NM_052845.4(MMAB):c.2T>C (p.Met1Thr)	Methylmalonic aciduria, cblB type [RCV000210846]	pathogenic	12	109573479	109573479	Human	1	trait , alternate_id
243056123	CV2410323	single nucleotide variant	NM_052845.4(MMAB):c.556C>G (p.Arg186Gly)	Methylmalonic aciduria, cblB type [RCV003132658]	uncertain significance	12	109561068	109561068	Human	1	trait , alternate_id
329847924	CV2524638	single nucleotide variant	NM_052845.4(MMAB):c.572G>C (p.Arg191Pro)	Methylmalonic aciduria, cblB type [RCV003227567]	likely pathogenic	12	109561052	109561052	Human	1	trait , alternate_id
11544925	CV254392	single nucleotide variant	NM_052845.4(MMAB):c.584+24A>G	Methylmalonic aciduria, cblB type [RCV001533429]\|not provided [RCV001610743]\|not specified [RCV000244449]	benign\|likely benign	12	109561016	109561016	Human	1	trait , alternate_id
11545199	CV254393	single nucleotide variant	NM_052845.4(MMAB):c.333C>T (p.Ala111=)	Methylmalonic aciduria, cblB type [RCV000876753]\|not specified [RCV000244814]	likely benign\|conflicting interpretations of pathogenicity	12	109565134	109565134	Human	1	trait , alternate_id
11547184	CV254394	single nucleotide variant	NM_052845.4(MMAB):c.135-23T>C	Methylmalonic aciduria, cblB type [RCV001533432]\|not provided [RCV004705122]\|not specified [RCV000247434]	benign\|likely benign\|conflicting interpretations of pathogenicity	12	109571733	109571733	Human	1	trait , alternate_id
11551136	CV254395	single nucleotide variant	NM_052845.4(MMAB):c.57C>A (p.Arg19=)	Hyperimmunoglobulin D with periodic fever [RCV000386273]\|Methylmalonic acidemia [RCV000399708]\|Methylmalonic aciduria, cblB type [RCV000616305]\|Mevalonic aciduria [RCV000294302]\|not provided [RCV001610742]\|not specified [RCV000252654]	benign	12	109573424	109573424	Human	5	trait , alternate_id
11547570	CV254396	single nucleotide variant	NM_052845.4(MMAB):c.56G>A (p.Arg19His)	Hyperimmunoglobulin D with periodic fever [RCV000389849]\|Methylmalonic acidemia [RCV000298750]\|Methylmalonic aciduria, cblB type [RCV000605966]\|Mevalonic aciduria [RCV000351606]\|not provided [RCV001668597]\|not specified [RCV000247935]	benign	12	109573425	109573425	Human	5	trait , alternate_id
11636951	CV268593	single nucleotide variant	NM_052845.4(MMAB):c.625G>A (p.Val209Met)	Methylmalonic aciduria, cblB type [RCV001211421]\|not provided [RCV000277473]	pathogenic\|likely pathogenic\|uncertain significance	12	109559115	109559115	Human	1	trait , alternate_id
11643119	CV268595	single nucleotide variant	NM_052845.4(MMAB):c.79C>T (p.Leu27Phe)	Inborn genetic diseases [RCV002518922]\|Methylmalonic aciduria, cblB type [RCV002519149]\|not provided [RCV000387095]	uncertain significance	12	109573402	109573402	Human	2	trait , alternate_id
11581852	CV272047	single nucleotide variant	NM_052845.4(MMAB):c.444G>A (p.Gly148=)	Methylmalonic aciduria, cblB type [RCV001079264]\|not provided [RCV000726068]\|not specified [RCV000385100]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	12	109561495	109561495	Human	1	trait , alternate_id
401855765	CV2753135	single nucleotide variant	NM_052845.4(MMAB):c.88C>T (p.Pro30Ser)	Inborn genetic diseases [RCV004961272]\|Methylmalonic aciduria, cblB type [RCV003338191]	uncertain significance	12	109573393	109573393	Human	2	trait , alternate_id
401941544	CV2832911	deletion	NM_052845.4(MMAB):c.574_577del (p.Ala192fs)	Methylmalonic aciduria, cblB type [RCV003461861]	pathogenic\|likely pathogenic	12	109561047	109561050	Human	1	trait , alternate_id
401946151	CV2832912	duplication	NM_052845.4(MMAB):c.541_554dup (p.Cys185fs)	Methylmalonic aciduria, cblB type [RCV003470141]	likely pathogenic	12	109561069	109561070	Human	1	trait , alternate_id
401941545	CV2832913	single nucleotide variant	NM_052845.4(MMAB):c.112C>T (p.Gln38Ter)	Methylmalonic aciduria, cblB type [RCV003461862]	likely pathogenic	12	109573369	109573369	Human	1	trait , alternate_id
401946153	CV2832914	duplication	NM_052845.4(MMAB):c.502dup (p.Thr168fs)	Methylmalonic aciduria, cblB type [RCV003470142]	likely pathogenic	12	109561436	109561437	Human	1	trait , alternate_id
401941546	CV2832915	deletion	NM_052845.4(MMAB):c.32del (p.Gly11fs)	Methylmalonic aciduria, cblB type [RCV003461863]	likely pathogenic	12	109573449	109573449	Human	1	trait , alternate_id
401941547	CV2832916	single nucleotide variant	NM_052845.4(MMAB):c.539C>A (p.Ser180Ter)	Methylmalonic aciduria, cblB type [RCV003461864]	likely pathogenic	12	109561085	109561085	Human	1	trait , alternate_id
401946155	CV2832917	single nucleotide variant	NM_052845.4(MMAB):c.63C>A (p.Cys21Ter)	Methylmalonic aciduria, cblB type [RCV003470143]	likely pathogenic	12	109573418	109573418	Human	1	trait , alternate_id
401962164	CV2844784	single nucleotide variant	NM_052845.4(MMAB):c.571C>G (p.Arg191Gly)	Methylmalonic aciduria, cblB type [RCV003482196]	likely pathogenic	12	109561053	109561053	Human	1	trait , alternate_id
405121026	CV2860522	single nucleotide variant	NM_052845.4(MMAB):c.349-20C>T	Methylmalonic aciduria, cblB type [RCV003500905]	likely benign	12	109561872	109561872	Human	1	trait , alternate_id
405124786	CV2876182	single nucleotide variant	NM_052845.4(MMAB):c.134+1G>T	Methylmalonic aciduria, cblB type [RCV003501379]	likely pathogenic	12	109573346	109573346	Human	1	trait , alternate_id
405125989	CV2880176	single nucleotide variant	NM_052845.4(MMAB):c.696G>T (p.Gly232=)	Methylmalonic aciduria, cblB type [RCV003501404]	likely benign	12	109557085	109557085	Human	1	trait , alternate_id
405126582	CV2890451	single nucleotide variant	NM_052845.4(MMAB):c.255C>G (p.Ala85=)	Methylmalonic aciduria, cblB type [RCV003501633]	likely benign	12	109568805	109568805	Human	1	trait , alternate_id
405125568	CV2892020	single nucleotide variant	NM_052845.4(MMAB):c.585-12C>T	Methylmalonic aciduria, cblB type [RCV003501503]	likely benign	12	109559167	109559167	Human	1	trait , alternate_id
405129023	CV2897574	single nucleotide variant	NM_052845.4(MMAB):c.426T>C (p.Tyr142=)	Methylmalonic aciduria, cblB type [RCV003501941]	likely benign	12	109561513	109561513	Human	1	trait , alternate_id
405127468	CV2898954	single nucleotide variant	NM_052845.4(MMAB):c.334G>T (p.Glu112Ter)	Methylmalonic aciduria, cblB type [RCV003501721]	pathogenic	12	109565133	109565133	Human	1	trait , alternate_id
405128256	CV2902705	single nucleotide variant	NM_052845.4(MMAB):c.349-14C>G	Methylmalonic aciduria, cblB type [RCV003501816]	likely benign	12	109561866	109561866	Human	1	trait , alternate_id
405128966	CV2911801	deletion	NM_052845.4(MMAB):c.116del (p.Gly39fs)	Methylmalonic aciduria, cblB type [RCV003501935]	pathogenic	12	109573365	109573365	Human	1	trait , alternate_id
405129736	CV2912692	single nucleotide variant	NM_052845.4(MMAB):c.139C>T (p.Gln47Ter)	Methylmalonic aciduria, cblB type [RCV003502005]	pathogenic	12	109571706	109571706	Human	1	trait , alternate_id
405115932	CV2914051	single nucleotide variant	NM_052845.4(MMAB):c.2T>A (p.Met1Lys)	Methylmalonic aciduria, cblB type [RCV003500093]	pathogenic	12	109573479	109573479	Human	1	trait , alternate_id
405116329	CV2920637	single nucleotide variant	NM_052845.4(MMAB):c.422-1G>A	Methylmalonic aciduria, cblB type [RCV003500120]	likely pathogenic	12	109561518	109561518	Human	1	trait , alternate_id
405117484	CV2920690	single nucleotide variant	NM_052845.4(MMAB):c.147C>T (p.Ser49=)	Methylmalonic aciduria, cblB type [RCV003500159]	likely benign	12	109571698	109571698	Human	1	trait , alternate_id
405118952	CV2924203	single nucleotide variant	NM_052845.4(MMAB):c.196+17T>G	Methylmalonic aciduria, cblB type [RCV003500498]	likely benign	12	109571632	109571632	Human	1	trait , alternate_id
405121914	CV2924409	single nucleotide variant	NM_052845.4(MMAB):c.483C>T (p.Thr161=)	Methylmalonic aciduria, cblB type [RCV003500993]	likely benign	12	109561456	109561456	Human	1	trait , alternate_id
405117663	CV2928506	single nucleotide variant	NM_052845.4(MMAB):c.569G>T (p.Arg190Leu)	Methylmalonic aciduria, cblB type [RCV003500329]	uncertain significance	12	109561055	109561055	Human	1	trait , alternate_id
405122025	CV2930165	single nucleotide variant	NM_052845.4(MMAB):c.24C>T (p.Ser8=)	Methylmalonic aciduria, cblB type [RCV003501008]	likely benign	12	109573457	109573457	Human	1	trait , alternate_id
405017235	CV2938183	single nucleotide variant	NM_052845.4(MMAB):c.196+13C>G	Methylmalonic aciduria, cblB type [RCV003607653]	likely benign	12	109571636	109571636	Human	1	trait , alternate_id
405017777	CV2945951	single nucleotide variant	NM_052845.4(MMAB):c.357C>A (p.Cys119Ter)	Methylmalonic aciduria, cblB type [RCV003607680]	pathogenic	12	109561844	109561844	Human	1	trait , alternate_id
405017854	CV2949314	duplication	NM_052845.4(MMAB):c.574dup (p.Ala192fs)	Methylmalonic aciduria, cblB type [RCV003607687]	pathogenic	12	109561049	109561050	Human	1	trait , alternate_id
405018648	CV2952848	single nucleotide variant	NM_052845.4(MMAB):c.134+7G>A	Methylmalonic aciduria, cblB type [RCV003607763]	likely benign	12	109573340	109573340	Human	1	trait , alternate_id
405017911	CV2960254	single nucleotide variant	NM_052845.4(MMAB):c.134+20G>A	Methylmalonic aciduria, cblB type [RCV003607694]	likely benign	12	109573327	109573327	Human	1	trait , alternate_id
405019400	CV2965675	single nucleotide variant	NM_052845.4(MMAB):c.135-19G>A	Methylmalonic aciduria, cblB type [RCV003607856]	likely benign	12	109571729	109571729	Human	1	trait , alternate_id
405019668	CV2969677	single nucleotide variant	NM_052845.4(MMAB):c.414T>C (p.Ala138=)	Methylmalonic aciduria, cblB type [RCV003607881]	likely benign	12	109561787	109561787	Human	1	trait , alternate_id
405020056	CV2977398	single nucleotide variant	NM_052845.4(MMAB):c.348+11C>T	Methylmalonic aciduria, cblB type [RCV003607922]	likely benign	12	109565108	109565108	Human	1	trait , alternate_id
405021436	CV2980016	single nucleotide variant	NM_052845.4(MMAB):c.444G>T (p.Gly148=)	Methylmalonic aciduria, cblB type [RCV003608038]	likely benign	12	109561495	109561495	Human	1	trait , alternate_id
405020027	CV2980872	single nucleotide variant	NM_052845.4(MMAB):c.197-14A>G	Methylmalonic aciduria, cblB type [RCV003607919]	likely benign	12	109568877	109568877	Human	1	trait , alternate_id
405020531	CV2982083	single nucleotide variant	NM_052845.4(MMAB):c.290+8G>T	Methylmalonic aciduria, cblB type [RCV003607972]	likely benign	12	109568762	109568762	Human	1	trait , alternate_id
405020746	CV2982274	single nucleotide variant	NM_052845.4(MMAB):c.33C>T (p.Gly11=)	Methylmalonic aciduria, cblB type [RCV003607995]	likely benign	12	109573448	109573448	Human	1	trait , alternate_id
405020936	CV2982703	single nucleotide variant	NM_052845.4(MMAB):c.705G>A (p.Glu235=)	Methylmalonic aciduria, cblB type [RCV003608013]	likely benign	12	109557076	109557076	Human	1	trait , alternate_id
405020317	CV2985016	single nucleotide variant	NM_052845.4(MMAB):c.584+9G>C	Methylmalonic aciduria, cblB type [RCV003607950]	likely benign	12	109561031	109561031	Human	1	trait , alternate_id
405021509	CV2986975	single nucleotide variant	NM_052845.4(MMAB):c.556C>A (p.Arg186=)	Methylmalonic aciduria, cblB type [RCV003608045]	likely benign	12	109561068	109561068	Human	1	trait , alternate_id
405021549	CV2987225	single nucleotide variant	NM_052845.4(MMAB):c.349-5C>G	Methylmalonic aciduria, cblB type [RCV003608049]	likely benign	12	109561857	109561857	Human	1	trait , alternate_id
405022081	CV3001483	single nucleotide variant	NM_052845.4(MMAB):c.644+14A>C	Methylmalonic aciduria, cblB type [RCV003608100]	likely benign	12	109559082	109559082	Human	1	trait , alternate_id
405023813	CV3009204	single nucleotide variant	NM_052845.4(MMAB):c.520-19T>C	Methylmalonic aciduria, cblB type [RCV003608255]	likely benign	12	109561123	109561123	Human	1	trait , alternate_id
405024409	CV3010348	single nucleotide variant	NM_052845.4(MMAB):c.421+7C>A	Methylmalonic aciduria, cblB type [RCV003608307]	likely benign	12	109561773	109561773	Human	1	trait , alternate_id
405024649	CV3010896	single nucleotide variant	NM_052845.4(MMAB):c.621G>C (p.Ala207=)	Methylmalonic aciduria, cblB type [RCV003608327]	likely benign	12	109559119	109559119	Human	1	trait , alternate_id
405024077	CV3013022	single nucleotide variant	NM_052845.4(MMAB):c.520-15C>T	Methylmalonic aciduria, cblB type [RCV003608279]	likely benign	12	109561119	109561119	Human	1	trait , alternate_id
405025210	CV3028909	duplication	NM_052845.4(MMAB):c.644+7dup	Methylmalonic aciduria, cblB type [RCV003608377]	likely benign	12	109559088	109559089	Human	1	trait , alternate_id
405025614	CV3029736	single nucleotide variant	NM_052845.4(MMAB):c.291-15C>G	Methylmalonic aciduria, cblB type [RCV003608411]	likely benign	12	109565191	109565191	Human	1	trait , alternate_id
405025827	CV3030155	single nucleotide variant	NM_052845.4(MMAB):c.463C>T (p.Gln155Ter)	Methylmalonic aciduria, cblB type [RCV003608428]	pathogenic	12	109561476	109561476	Human	1	trait , alternate_id
405025888	CV3030338	single nucleotide variant	NM_052845.4(MMAB):c.186G>T (p.Thr62=)	Methylmalonic aciduria, cblB type [RCV003608434]	likely benign	12	109571659	109571659	Human	1	trait , alternate_id
405026924	CV3037342	deletion	NM_052845.4(MMAB):c.134+16del	Methylmalonic aciduria, cblB type [RCV003608516]	likely benign	12	109573331	109573331	Human	1	trait , alternate_id
405026473	CV3038496	single nucleotide variant	NM_052845.4(MMAB):c.39G>T (p.Gly13=)	Methylmalonic aciduria, cblB type [RCV003608482]	likely benign	12	109573442	109573442	Human	1	trait , alternate_id
405026214	CV3040271	single nucleotide variant	NM_052845.4(MMAB):c.729A>G (p.Pro243=)	Methylmalonic aciduria, cblB type [RCV003608461]	likely benign	12	109557052	109557052	Human	1	trait , alternate_id
405026345	CV3040734	single nucleotide variant	NM_052845.4(MMAB):c.349-6C>T	Methylmalonic aciduria, cblB type [RCV003608472]	likely benign	12	109561858	109561858	Human	1	trait , alternate_id
405028339	CV3042765	single nucleotide variant	NM_052845.4(MMAB):c.564G>A (p.Val188=)	Methylmalonic aciduria, cblB type [RCV003608517]	likely benign	12	109561060	109561060	Human	1	trait , alternate_id
405028326	CV3042820	single nucleotide variant	NM_052845.4(MMAB):c.513C>A (p.Ile171=)	Methylmalonic aciduria, cblB type [RCV003608518]	likely benign	12	109561426	109561426	Human	1	trait , alternate_id
405026968	CV3047017	deletion	NM_052845.4(MMAB):c.291-16del	Methylmalonic aciduria, cblB type [RCV003608543]	benign	12	109565192	109565192	Human	1	trait , alternate_id
405027477	CV3048403	single nucleotide variant	NM_052845.4(MMAB):c.135-12A>T	Methylmalonic aciduria, cblB type [RCV003608580]	likely benign	12	109571722	109571722	Human	1	trait , alternate_id
405028300	CV3052972	microsatellite	NM_052845.4(MMAB):c.645-20CT[6]	Methylmalonic aciduria, cblB type [RCV003608520]	likely benign	12	109557146	109557147	Human		trait , alternate_id
405028247	CV3053174	single nucleotide variant	NM_052845.4(MMAB):c.585-16T>A	Methylmalonic aciduria, cblB type [RCV003608524]	likely benign\|conflicting interpretations of pathogenicity	12	109559171	109559171	Human	1	trait , alternate_id
405027830	CV3056330	single nucleotide variant	NM_052845.4(MMAB):c.519+13C>T	Methylmalonic aciduria, cblB type [RCV003608607]	likely benign\|uncertain significance	12	109561407	109561407	Human	1	trait , alternate_id
405027843	CV3056440	single nucleotide variant	NM_052845.4(MMAB):c.405C>T (p.Ala135=)	Methylmalonic aciduria, cblB type [RCV003608608]	likely benign	12	109561796	109561796	Human	1	trait , alternate_id
405028588	CV3057743	single nucleotide variant	NM_052845.4(MMAB):c.585-17G>A	Methylmalonic aciduria, cblB type [RCV003608642]	likely benign	12	109559172	109559172	Human	1	trait , alternate_id
405013009	CV3058532	single nucleotide variant	NM_052845.4(MMAB):c.197-15C>A	Methylmalonic aciduria, cblB type [RCV003607040]	likely benign	12	109568878	109568878	Human	1	trait , alternate_id
405013016	CV3058610	single nucleotide variant	NM_052845.4(MMAB):c.197-7T>C	Methylmalonic aciduria, cblB type [RCV003607041]	likely benign	12	109568870	109568870	Human	1	trait , alternate_id
405013207	CV3058978	single nucleotide variant	NM_052845.4(MMAB):c.197-12T>C	Methylmalonic aciduria, cblB type [RCV003607058]	likely benign	12	109568875	109568875	Human	1	trait , alternate_id
405028575	CV3061042	indel	NM_052845.4(MMAB):c.55_57delinsTAA (p.Arg19Ter)	Methylmalonic aciduria, cblB type [RCV003608641]	pathogenic	12	109573424	109573426	Human		trait , alternate_id
405012801	CV3061114	single nucleotide variant	NM_052845.4(MMAB):c.421+18G>C	Methylmalonic aciduria, cblB type [RCV003607021]	likely benign	12	109561762	109561762	Human	1	trait , alternate_id
405012929	CV3064977	single nucleotide variant	NM_052845.4(MMAB):c.290+12A>G	Methylmalonic aciduria, cblB type [RCV003607032]	likely benign	12	109568758	109568758	Human	1	trait , alternate_id
405012938	CV3064995	single nucleotide variant	NM_052845.4(MMAB):c.520-18G>A	Methylmalonic aciduria, cblB type [RCV003607033]	likely benign	12	109561122	109561122	Human	1	trait , alternate_id
405013323	CV3065918	single nucleotide variant	NM_052845.4(MMAB):c.576C>G (p.Ala192=)	Methylmalonic aciduria, cblB type [RCV003607069]	likely benign	12	109561048	109561048	Human	1	trait , alternate_id
405028056	CV3067500	single nucleotide variant	NM_052845.4(MMAB):c.584+12G>A	Methylmalonic aciduria, cblB type [RCV003608624]	likely benign	12	109561028	109561028	Human	1	trait , alternate_id
405028122	CV3067661	single nucleotide variant	NM_052845.4(MMAB):c.519+19T>A	Methylmalonic aciduria, cblB type [RCV003608629]	likely benign	12	109561401	109561401	Human	1	trait , alternate_id
405028613	CV3068101	single nucleotide variant	NM_052845.4(MMAB):c.520-20A>G	Methylmalonic aciduria, cblB type [RCV003608644]	likely benign	12	109561124	109561124	Human	1	trait , alternate_id
405014053	CV3071472	single nucleotide variant	NM_052845.4(MMAB):c.644+17T>C	Methylmalonic aciduria, cblB type [RCV003607144]	likely benign	12	109559079	109559079	Human	1	trait , alternate_id
405014279	CV3074845	single nucleotide variant	NM_052845.4(MMAB):c.134+14G>A	Methylmalonic aciduria, cblB type [RCV003607166]	likely benign	12	109573333	109573333	Human	1	trait , alternate_id
405014421	CV3075084	single nucleotide variant	NM_052845.4(MMAB):c.240C>T (p.Asp80=)	Methylmalonic aciduria, cblB type [RCV003607180]	likely benign	12	109568820	109568820	Human	1	trait , alternate_id
405014556	CV3077887	single nucleotide variant	NM_052845.4(MMAB):c.291-18T>C	Methylmalonic aciduria, cblB type [RCV003607194]	likely benign	12	109565194	109565194	Human	1	trait , alternate_id
405130116	CV3114979	single nucleotide variant	NM_052845.4(MMAB):c.557G>C (p.Arg186Pro)	Methylmalonic aciduria, cblB type [RCV003815824]	likely pathogenic	12	109561067	109561067	Human	1	trait , alternate_id
405145472	CV3122745	single nucleotide variant	NM_052845.4(MMAB):c.645-16C>A	Methylmalonic aciduria, cblB type [RCV003817167]	likely benign	12	109557152	109557152	Human	1	trait , alternate_id
404977867	CV3127286	single nucleotide variant	NM_052845.4(MMAB):c.321C>A (p.Gly107=)	Methylmalonic aciduria, cblB type [RCV003825510]	likely benign	12	109565146	109565146	Human	1	trait , alternate_id
405197409	CV3132044	single nucleotide variant	NM_052845.4(MMAB):c.291-5C>G	Methylmalonic aciduria, cblB type [RCV003821637]	likely benign	12	109565181	109565181	Human	1	trait , alternate_id
405057044	CV3134861	single nucleotide variant	NM_052845.4(MMAB):c.584+8G>C	Methylmalonic aciduria, cblB type [RCV003832533]	likely benign	12	109561032	109561032	Human	1	trait , alternate_id
405218781	CV3135754	single nucleotide variant	NM_052845.4(MMAB):c.348+20C>G	Methylmalonic aciduria, cblB type [RCV003824379]	likely benign	12	109565099	109565099	Human	1	trait , alternate_id
405080108	CV3137153	single nucleotide variant	NM_052845.4(MMAB):c.645-7C>T	Methylmalonic aciduria, cblB type [RCV003834052]	likely benign	12	109557143	109557143	Human	1	trait , alternate_id
405164286	CV3153050	single nucleotide variant	NM_052845.4(MMAB):c.290+19G>T	Methylmalonic aciduria, cblB type [RCV003840785]	likely benign	12	109568751	109568751	Human	1	trait , alternate_id
11604914	CV315890	single nucleotide variant	NM_052845.4(MMAB):c.*3019A>G	Methylmalonic aciduria, cblB type [RCV000314292]	uncertain significance	12	109554009	109554009	Human	1	trait , alternate_id
11612376	CV315891	single nucleotide variant	NM_052845.4(MMAB):c.*2914G>A	Methylmalonic aciduria, cblB type [RCV000408145]	uncertain significance	12	109554114	109554114	Human	1	trait , alternate_id
11603553	CV315892	single nucleotide variant	NM_052845.4(MMAB):c.*2835T>C	Methylmalonic aciduria, cblB type [RCV000301254]\|not provided [RCV004708221]	benign\|likely benign	12	109554193	109554193	Human	1	trait , alternate_id
11605641	CV315896	single nucleotide variant	NM_052845.4(MMAB):c.*2628C>T	Methylmalonic aciduria, cblB type [RCV000322016]\|not provided [RCV004706880]	benign\|likely benign	12	109554400	109554400	Human	1	trait , alternate_id
11608646	CV315898	single nucleotide variant	NM_052845.4(MMAB):c.*2619A>T	Methylmalonic aciduria, cblB type [RCV000358133]	uncertain significance	12	109554409	109554409	Human	1	trait , alternate_id
11646805	CV315899	single nucleotide variant	NM_052845.4(MMAB):c.*2503G>A	Methylmalonic aciduria, cblB type [RCV000272968]	uncertain significance	12	109554525	109554525	Human	1	trait , alternate_id
11606181	CV315901	single nucleotide variant	NM_052845.4(MMAB):c.*2342G>A	Methylmalonic aciduria, cblB type [RCV000328025]	uncertain significance	12	109554686	109554686	Human	1	trait , alternate_id
11606590	CV315905	single nucleotide variant	NM_052845.4(MMAB):c.*1952T>C	Methylmalonic aciduria, cblB type [RCV000333396]\|not provided [RCV004708224]	benign\|likely benign	12	109555076	109555076	Human	1	trait , alternate_id
11611191	CV315909	single nucleotide variant	NM_052845.4(MMAB):c.*1657G>A	Methylmalonic aciduria, cblB type [RCV000391323]\|not provided [RCV004706883]	benign\|likely benign	12	109555371	109555371	Human	1	trait , alternate_id
11601053	CV315913	single nucleotide variant	NM_052845.4(MMAB):c.*1088A>T	Methylmalonic aciduria, cblB type [RCV000278982]	uncertain significance	12	109555940	109555940	Human	1	trait , alternate_id
11612306	CV315915	single nucleotide variant	NM_052845.4(MMAB):c.*721T>G	Methylmalonic aciduria, cblB type [RCV000407146]\|not provided [RCV004706887]	benign\|likely benign	12	109556307	109556307	Human	1	trait , alternate_id
11660762	CV315916	single nucleotide variant	NM_052845.4(MMAB):c.*691A>C	Methylmalonic aciduria, cblB type [RCV000370172]	uncertain significance	12	109556337	109556337	Human	1	trait , alternate_id
11598689	CV315944	single nucleotide variant	NM_052845.4(MMAB):c.*376T>A	Methylmalonic aciduria, cblB type [RCV000259215]\|not provided [RCV004708229]	benign\|likely benign	12	109556652	109556652	Human	1	trait , alternate_id
11599462	CV315948	single nucleotide variant	NM_052845.4(MMAB):c.732G>A (p.Ser244=)	MMAB-related disorder [RCV003930298]\|Methylmalonic aciduria, cblB type [RCV000872449]\|not specified [RCV000443067]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	12	109557049	109557049	Human	1	trait , alternate_id
11610382	CV315950	single nucleotide variant	NM_052845.4(MMAB):c.561C>T (p.Ala187=)	Methylmalonic aciduria, cblB type [RCV000969362]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	12	109561063	109561063	Human	1	trait , alternate_id
11608151	CV315951	single nucleotide variant	NM_052845.4(MMAB):c.542C>T (p.Ala181Val)	Inborn genetic diseases [RCV002522219]\|Methylmalonic aciduria, cblB type [RCV000351353]	uncertain significance	12	109561082	109561082	Human	2	trait , alternate_id
405243361	CV3164803	deletion	NM_052845.4(MMAB):c.565_577del (p.Cys189fs)	Methylmalonic aciduria, cblB type [RCV003867884]	pathogenic	12	109561047	109561059	Human	1	trait , alternate_id
402475656	CV3172716	single nucleotide variant	NM_052845.4(MMAB):c.519+16G>A	Methylmalonic aciduria, cblB type [RCV003875134]	likely benign	12	109561404	109561404	Human	1	trait , alternate_id
405704936	CV3225162	single nucleotide variant	NM_052845.4(MMAB):c.659T>C (p.Leu220Pro)	Methylmalonic aciduria, cblB type [RCV003990118]	uncertain significance	12	109557122	109557122	Human	1	trait , alternate_id
11608935	CV323049	single nucleotide variant	NM_052845.4(MMAB):c.*2679G>C	Methylmalonic aciduria, cblB type [RCV000361789]	uncertain significance	12	109554349	109554349	Human	1	trait , alternate_id
11599601	CV323050	single nucleotide variant	NM_052845.4(MMAB):c.*2636A>G	Methylmalonic aciduria, cblB type [RCV000267147]	uncertain significance	12	109554392	109554392	Human	1	trait , alternate_id
11611775	CV323052	single nucleotide variant	NM_052845.4(MMAB):c.*1810G>A	Methylmalonic aciduria, cblB type [RCV000399226]\|not provided [RCV004706881]	benign\|likely benign	12	109555218	109555218	Human	1	trait , alternate_id
11656668	CV323060	single nucleotide variant	NM_052845.4(MMAB):c.*1747A>G	Methylmalonic aciduria, cblB type [RCV000335453]	uncertain significance	12	109555281	109555281	Human	1	trait , alternate_id
11610741	CV323098	single nucleotide variant	NM_052845.4(MMAB):c.*1428C>T	Methylmalonic aciduria, cblB type [RCV000385889]	uncertain significance	12	109555600	109555600	Human	1	trait , alternate_id
11601486	CV323099	single nucleotide variant	NM_052845.4(MMAB):c.*1409G>A	Methylmalonic aciduria, cblB type [RCV000282393]\|not provided [RCV004703614]	likely benign	12	109555619	109555619	Human	1	trait , alternate_id
11609126	CV323124	single nucleotide variant	NM_052845.4(MMAB):c.*815T>C	Methylmalonic aciduria, cblB type [RCV000364390]	uncertain significance	12	109556213	109556213	Human	1	trait , alternate_id
11654162	CV323125	single nucleotide variant	NM_052845.4(MMAB):c.*716C>T	Methylmalonic aciduria, cblB type [RCV000315526]	uncertain significance	12	109556312	109556312	Human	1	trait , alternate_id
11600646	CV323127	single nucleotide variant	NM_052845.4(MMAB):c.*656C>A	Methylmalonic aciduria, cblB type [RCV000275586]\|not provided [RCV004706888]	benign	12	109556372	109556372	Human	1	trait , alternate_id
11608845	CV323140	single nucleotide variant	NM_052845.4(MMAB):c.*192T>C	Methylmalonic aciduria, cblB type [RCV000360318]\|not provided [RCV001612971]	benign\|likely benign	12	109556836	109556836	Human	1	trait , alternate_id
11600113	CV323141	single nucleotide variant	NM_052845.4(MMAB):c.644+7G>A	MMAB-related disorder [RCV003897700]\|Methylmalonic aciduria, cblB type [RCV000872126]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	12	109559089	109559089	Human	1	trait , alternate_id
11655547	CV323142	single nucleotide variant	NM_052845.4(MMAB):c.593C>T (p.Pro198Leu)	Methylmalonic aciduria, cblB type [RCV000326468]	uncertain significance	12	109559147	109559147	Human	1	trait , alternate_id
11616398	CV329122	single nucleotide variant	NM_052845.4(MMAB):c.*3178C>A	Methylmalonic aciduria, cblB type [RCV000294493]\|not provided [RCV004706878]	benign\|likely benign	12	109553850	109553850	Human	1	trait , alternate_id
11622076	CV329127	single nucleotide variant	NM_052845.4(MMAB):c.*2740G>A	Methylmalonic aciduria, cblB type [RCV000356110]	uncertain significance	12	109554288	109554288	Human	1	trait , alternate_id
11612616	CV329129	single nucleotide variant	NM_052845.4(MMAB):c.*2701G>C	Methylmalonic aciduria, cblB type [RCV000261158]\|not provided [RCV004708222]	benign	12	109554327	109554327	Human	1	trait , alternate_id
11624121	CV329141	single nucleotide variant	NM_052845.4(MMAB):c.*2186T>C	Methylmalonic aciduria, cblB type [RCV000382267]	likely benign\|uncertain significance	12	109554842	109554842	Human	1	trait , alternate_id
11615634	CV329143	single nucleotide variant	NM_052845.4(MMAB):c.*2023C>T	Methylmalonic aciduria, cblB type [RCV000287864]	uncertain significance	12	109555005	109555005	Human	1	trait , alternate_id
11617559	CV329151	single nucleotide variant	NM_052845.4(MMAB):c.*1685G>A	Methylmalonic aciduria, cblB type [RCV000305565]	uncertain significance	12	109555343	109555343	Human	2	trait , alternate_id
11617559	CV329151	single nucleotide variant	NM_052845.4(MMAB):c.*1685G>A	Methylmalonic aciduria, cblB type [RCV000305565]	uncertain significance	12	109555343	109555344	Human	2	trait , alternate_id
11622419	CV329153	single nucleotide variant	NM_052845.4(MMAB):c.*1683G>A	Methylmalonic aciduria, cblB type [RCV000360255]	uncertain significance	12	109555345	109555345	Human	1	trait , alternate_id
11618891	CV329154	single nucleotide variant	NM_052845.4(MMAB):c.*1230G>T	Methylmalonic aciduria, cblB type [RCV000318722]\|not provided [RCV004708226]	benign	12	109555798	109555798	Human	1	trait , alternate_id
11625580	CV329171	single nucleotide variant	NM_052845.4(MMAB):c.*1067C>T	Methylmalonic aciduria, cblB type [RCV000400826]	uncertain significance	12	109555961	109555961	Human	1	trait , alternate_id
11615358	CV329182	single nucleotide variant	NM_052845.4(MMAB):c.*1005A>G	Methylmalonic aciduria, cblB type [RCV000284869]\|not provided [RCV004706885]	benign\|likely benign	12	109556023	109556023	Human	1	trait , alternate_id
11620711	CV329183	single nucleotide variant	NM_052845.4(MMAB):c.*961G>A	Methylmalonic aciduria, cblB type [RCV000339999]	uncertain significance	12	109556067	109556067	Human	1	trait , alternate_id
11618202	CV329184	single nucleotide variant	NM_052845.4(MMAB):c.*625G>C	Methylmalonic aciduria, cblB type [RCV000311865]\|not provided [RCV004706889]	benign	12	109556403	109556403	Human	1	trait , alternate_id
11612781	CV329189	single nucleotide variant	NM_052845.4(MMAB):c.*554G>A	Methylmalonic aciduria, cblB type [RCV000262590]	uncertain significance	12	109556474	109556474	Human	1	trait , alternate_id
11654482	CV329190	single nucleotide variant	NM_052845.4(MMAB):c.*509C>T	Methylmalonic aciduria, cblB type [RCV000317727]	uncertain significance	12	109556519	109556519	Human	1	trait , alternate_id
11621947	CV329196	single nucleotide variant	NM_052845.4(MMAB):c.*378T>A	Methylmalonic aciduria, cblB type [RCV000354578]\|not provided [RCV004706891]	benign\|likely benign	12	109556650	109556650	Human	1	trait , alternate_id
11659592	CV329208	single nucleotide variant	NM_052845.3(MMAB):c.-69G>A	Methylmalonic acidemia [RCV000359636]\|Methylmalonic aciduria, cblB type [RCV000672426]	uncertain significance	12	109573549	109573549	Human	3	trait , alternate_id
11624447	CV330304	single nucleotide variant	NM_052845.4(MMAB):c.*3265A>G	Methylmalonic aciduria, cblB type [RCV000386398]	uncertain significance	12	109553763	109553763	Human	1	trait , alternate_id
11658761	CV330307	single nucleotide variant	NM_052845.4(MMAB):c.*3152A>T	Methylmalonic aciduria, cblB type [RCV000351782]	uncertain significance	12	109553876	109553876	Human	1	trait , alternate_id
11625706	CV330314	single nucleotide variant	NM_052845.4(MMAB):c.*3148G>A	Methylmalonic aciduria, cblB type [RCV000402010]\|not provided [RCV004706879]	benign	12	109553880	109553880	Human	1	trait , alternate_id
11616737	CV330315	single nucleotide variant	NM_052845.4(MMAB):c.*2684G>C	Methylmalonic aciduria, cblB type [RCV000297595]\|not provided [RCV004708223]	benign\|likely benign	12	109554344	109554344	Human	1	trait , alternate_id
11625453	CV330324	single nucleotide variant	NM_052845.4(MMAB):c.*1729A>C	Methylmalonic aciduria, cblB type [RCV000398858]\|not provided [RCV004706882]	benign\|likely benign	12	109555299	109555299	Human	1	trait , alternate_id
11614394	CV330329	single nucleotide variant	NM_052845.4(MMAB):c.*1535G>A	Methylmalonic aciduria, cblB type [RCV000276503]\|not provided [RCV004706884]	benign\|likely benign	12	109555493	109555493	Human	1	trait , alternate_id
11619975	CV330331	single nucleotide variant	NM_052845.4(MMAB):c.*1467C>T	Methylmalonic aciduria, cblB type [RCV000331618]\|not provided [RCV004708225]	benign\|likely benign	12	109555561	109555561	Human	1	trait , alternate_id
11623463	CV330337	single nucleotide variant	NM_052845.4(MMAB):c.*1121C>T	Methylmalonic aciduria, cblB type [RCV000373318]	uncertain significance	12	109555907	109555907	Human	1	trait , alternate_id
11625570	CV330347	single nucleotide variant	NM_052845.4(MMAB):c.*891C>A	Methylmalonic aciduria, cblB type [RCV000400124]\|not provided [RCV004706886]	benign	12	109556137	109556137	Human	1	trait , alternate_id
11618017	CV330350	single nucleotide variant	NM_052845.4(MMAB):c.*857G>C	Methylmalonic aciduria, cblB type [RCV000309656]\|not provided [RCV004708227]	benign	12	109556171	109556171	Human	1	trait , alternate_id
11622177	CV330354	single nucleotide variant	NM_052845.4(MMAB):c.*564G>C	Methylmalonic aciduria, cblB type [RCV000357397]\|not provided [RCV004708228]	benign\|likely benign	12	109556464	109556464	Human	1	trait , alternate_id
11623370	CV330355	single nucleotide variant	NM_052845.4(MMAB):c.*404T>G	Methylmalonic aciduria, cblB type [RCV000372183]	likely benign\|uncertain significance	12	109556624	109556624	Human	1	trait , alternate_id
11623835	CV330358	single nucleotide variant	NM_052845.4(MMAB):c.*380A>T	Methylmalonic aciduria, cblB type [RCV000378089]\|not provided [RCV004706890]	benign\|uncertain significance	12	109556648	109556648	Human	1	trait , alternate_id
11624308	CV330363	single nucleotide variant	NM_052845.4(MMAB):c.678T>C (p.Tyr226=)	MMAB-related disorder [RCV003977893]\|Methylmalonic aciduria, cblB type [RCV000384506]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	12	109557103	109557103	Human	1	trait , alternate_id
11620271	CV330364	single nucleotide variant	NM_052845.4(MMAB):c.-4G>C	Methylmalonic aciduria, cblB type [RCV000335052]\|not provided [RCV001612972]	benign\|uncertain significance	12	109573484	109573484	Human	1	trait , alternate_id
11625682	CV330381	single nucleotide variant	NM_052845.4(MMAB):c.-9G>T	Methylmalonic acidemia [RCV000402027]\|Methylmalonic aciduria, cblB type [RCV001833453]\|not specified [RCV000600720]	benign\|likely benign\|uncertain significance	12	109573489	109573489	Human	3	trait , alternate_id
405651607	CV3366010	single nucleotide variant	NM_052845.4(MMAB):c.703G>A (p.Glu235Lys)	Inborn genetic diseases [RCV004509353]\|Methylmalonic aciduria, cblB type [RCV005003764]	uncertain significance	12	109557078	109557078	Human	2	trait , alternate_id
405873667	CV3398709	duplication	NM_052845.4(MMAB):c.599dup (p.Gln201fs)	Methylmalonic aciduria, cblB type [RCV004576189]	likely pathogenic	12	109559140	109559141	Human	1	trait , alternate_id
405873668	CV3398710	single nucleotide variant	NM_052845.4(MMAB):c.197-2A>G	Methylmalonic aciduria, cblB type [RCV004576190]	likely pathogenic	12	109568865	109568865	Human	1	trait , alternate_id
405871533	CV3400930	single nucleotide variant	NM_052845.4(MMAB):c.584+2T>A	Methylmalonic aciduria, cblB type [RCV004574884]	likely pathogenic	12	109561038	109561038	Human	1	trait , alternate_id
405872014	CV3403252	deletion	NC_000012.11:g.(?_110002904)_(110003001_?)del	Methylmalonic aciduria, cblB type [RCV004578441]	pathogenic				Human	1	trait , alternate_id
405872018	CV3403253	duplication	NC_000012.11:g.(?_110009434)_(110009535_?)dup	Methylmalonic aciduria, cblB type [RCV004578442]	likely pathogenic				Human	1	trait , alternate_id
596928516	CV3541440	single nucleotide variant	NM_052845.4(MMAB):c.584+2T>C	Methylmalonic aciduria, cblB type [RCV004797312]	likely pathogenic	12	109561038	109561038	Human	1	trait , alternate_id
12743025	CV361429	single nucleotide variant	NM_052845.4(MMAB):c.582A>T (p.Arg194Ser)	Methylmalonic aciduria, cblB type [RCV001527671]\|not provided [RCV000415894]	pathogenic\|uncertain significance	12	109561042	109561042	Human	1	trait , alternate_id
597670068	CV3707111	deletion	NM_052845.4(MMAB):c.701_702del (p.Gln234fs)	Methylmalonic aciduria, cblB type [RCV005004787]	uncertain significance	12	109557079	109557080	Human	1	trait , alternate_id
597670077	CV3707112	single nucleotide variant	NM_052845.4(MMAB):c.691G>T (p.Glu231Ter)	Methylmalonic aciduria, cblB type [RCV005004788]	pathogenic\|likely pathogenic	12	109557090	109557090	Human	1	trait , alternate_id
597684833	CV3707113	single nucleotide variant	NM_052845.4(MMAB):c.683C>T (p.Ala228Val)	Methylmalonic aciduria, cblB type [RCV005006774]	uncertain significance	12	109557098	109557098	Human	1	trait , alternate_id
597684843	CV3707114	single nucleotide variant	NM_052845.4(MMAB):c.644+4C>G	Methylmalonic aciduria, cblB type [RCV005006775]	uncertain significance	12	109559092	109559092	Human	1	trait , alternate_id
597670086	CV3707115	single nucleotide variant	NM_052845.4(MMAB):c.620C>A (p.Ala207Glu)	Methylmalonic aciduria, cblB type [RCV005004789]	uncertain significance	12	109559120	109559120	Human	1	trait , alternate_id
597684856	CV3707116	single nucleotide variant	NM_052845.4(MMAB):c.590T>C (p.Val197Ala)	Methylmalonic aciduria, cblB type [RCV005006776]	uncertain significance	12	109559150	109559150	Human	1	trait , alternate_id
597684866	CV3707117	single nucleotide variant	NM_052845.4(MMAB):c.577G>T (p.Glu193Ter)	Methylmalonic aciduria, cblB type [RCV005006777]	likely pathogenic	12	109561047	109561047	Human	1	trait , alternate_id
597684874	CV3707118	single nucleotide variant	NM_052845.4(MMAB):c.542C>G (p.Ala181Gly)	Methylmalonic aciduria, cblB type [RCV005006778]	uncertain significance	12	109561082	109561082	Human	1	trait , alternate_id
597670108	CV3707119	duplication	NM_052845.4(MMAB):c.519dup (p.Ser174fs)	Methylmalonic aciduria, cblB type [RCV005004791]	likely pathogenic	12	109561419	109561420	Human	1	trait , alternate_id
597670116	CV3707120	single nucleotide variant	NM_052845.4(MMAB):c.511A>G (p.Ile171Val)	Methylmalonic aciduria, cblB type [RCV005004792]	uncertain significance	12	109561428	109561428	Human	1	trait , alternate_id
597684885	CV3707121	single nucleotide variant	NM_052845.4(MMAB):c.475A>C (p.Lys159Gln)	Methylmalonic aciduria, cblB type [RCV005006779]	uncertain significance	12	109561464	109561464	Human	1	trait , alternate_id
597684895	CV3707122	single nucleotide variant	NM_052845.4(MMAB):c.422A>G (p.Lys141Arg)	Methylmalonic aciduria, cblB type [RCV005006780]	uncertain significance	12	109561517	109561517	Human	1	trait , alternate_id
597684915	CV3707123	single nucleotide variant	NM_052845.4(MMAB):c.406C>T (p.Arg136Trp)	Methylmalonic aciduria, cblB type [RCV005006782]	uncertain significance	12	109561795	109561795	Human	1	trait , alternate_id
597670126	CV3707124	single nucleotide variant	NM_052845.4(MMAB):c.386C>T (p.Ala129Val)	Methylmalonic aciduria, cblB type [RCV005004793]	uncertain significance	12	109561815	109561815	Human	1	trait , alternate_id
597684936	CV3707125	single nucleotide variant	NM_052845.4(MMAB):c.379G>A (p.Ala127Thr)	Methylmalonic aciduria, cblB type [RCV005006784]	uncertain significance	12	109561822	109561822	Human	1	trait , alternate_id
597670135	CV3707126	single nucleotide variant	NM_052845.4(MMAB):c.367G>A (p.Asp123Asn)	Methylmalonic aciduria, cblB type [RCV005004794]	uncertain significance	12	109561834	109561834	Human	1	trait , alternate_id
597670143	CV3707127	single nucleotide variant	NM_052845.4(MMAB):c.290+3A>G	Methylmalonic aciduria, cblB type [RCV005004795]	uncertain significance	12	109568767	109568767	Human	1	trait , alternate_id
597670152	CV3707129	single nucleotide variant	NM_052845.4(MMAB):c.250G>A (p.Glu84Lys)	Methylmalonic aciduria, cblB type [RCV005004796]	uncertain significance	12	109568810	109568810	Human	1	trait , alternate_id
597670163	CV3707130	deletion	NM_052845.4(MMAB):c.245del (p.Val82fs)	Methylmalonic aciduria, cblB type [RCV005004797]	likely pathogenic	12	109568815	109568815	Human	1	trait , alternate_id
597670172	CV3707131	single nucleotide variant	NM_052845.4(MMAB):c.134G>A (p.Arg45Lys)	Methylmalonic aciduria, cblB type [RCV005004798]	uncertain significance	12	109573347	109573347	Human	1	trait , alternate_id
597684947	CV3707132	indel	NM_052845.4(MMAB):c.56_60delinsAAGGT (p.Arg19Gln)	Methylmalonic aciduria, cblB type [RCV005006785]	uncertain significance	12	109573421	109573425	Human		trait , alternate_id
597670181	CV3707133	indel	NM_052845.4(MMAB):c.37_57delinsCAA (p.Gly13_Arg19delinsGln)	Methylmalonic aciduria, cblB type [RCV005004799]	uncertain significance	12	109573424	109573444	Human		trait , alternate_id
597670198	CV3707134	single nucleotide variant	NM_052845.4(MMAB):c.28C>A (p.Leu10Ile)	Methylmalonic aciduria, cblB type [RCV005004801]	uncertain significance	12	109573453	109573453	Human	1	trait , alternate_id
597684953	CV3707135	single nucleotide variant	NM_052845.4(MMAB):c.5C>T (p.Ala2Val)	Methylmalonic aciduria, cblB type [RCV005006786]	uncertain significance	12	109573476	109573476	Human	1	trait , alternate_id
12847237	CV371806	single nucleotide variant	NM_052845.4(MMAB):c.394T>C (p.Cys132Arg)	Inborn genetic diseases [RCV002524773]\|Methylmalonic aciduria, cblB type [RCV000824472]\|not provided [RCV001703464]	benign\|likely benign\|uncertain significance	12	109561807	109561807	Human	2	trait , alternate_id
12840762	CV372789	single nucleotide variant	NM_052845.4(MMAB):c.624C>T (p.Asn208=)	Methylmalonic aciduria, cblB type [RCV000875765]\|not specified [RCV000431319]	benign\|likely benign	12	109559116	109559116	Human	1	trait , alternate_id
12841111	CV374492	single nucleotide variant	NM_052845.4(MMAB):c.421+14T>A	Methylmalonic aciduria, cblB type [RCV003607283]\|not specified [RCV000431999]	likely benign	12	109561766	109561766	Human	1	trait , alternate_id
597851242	CV3746990	single nucleotide variant	NM_052845.4(MMAB):c.16C>G (p.Leu6Val)	Methylmalonic aciduria, cblB type [RCV005060618]	uncertain significance	12	109573465	109573465	Human	1	trait , alternate_id
597835387	CV3760940	single nucleotide variant	NM_052845.4(MMAB):c.291-7T>G	Methylmalonic aciduria, cblB type [RCV005085491]	likely benign	12	109565183	109565183	Human	1	trait , alternate_id
597835428	CV3760949	single nucleotide variant	NM_052845.4(MMAB):c.349-9G>C	Methylmalonic aciduria, cblB type [RCV005085500]	likely benign	12	109561861	109561861	Human	1	trait , alternate_id
597871176	CV3768290	single nucleotide variant	NM_052845.4(MMAB):c.312A>C (p.Thr104=)	Methylmalonic aciduria, cblB type [RCV005122669]	likely benign	12	109565155	109565155	Human	1	trait , alternate_id
597893604	CV3809940	single nucleotide variant	NM_052845.4(MMAB):c.134+16G>A	Methylmalonic aciduria, cblB type [RCV005151661]	likely benign	12	109573331	109573331	Human	1	trait , alternate_id
597950372	CV3818973	single nucleotide variant	NM_052845.4(MMAB):c.327A>C (p.Thr109=)	Methylmalonic aciduria, cblB type [RCV005161043]	likely benign	12	109565140	109565140	Human	1	trait , alternate_id
597836164	CV3828374	single nucleotide variant	NM_052845.4(MMAB):c.282A>G (p.Ser94=)	Methylmalonic aciduria, cblB type [RCV005171266]	likely benign	12	109568778	109568778	Human	1	trait , alternate_id
598226762	CV3895848	single nucleotide variant	NM_052845.4(MMAB):c.584+4A>T	Methylmalonic aciduria, cblB type [RCV005362138]	uncertain significance	12	109561036	109561036	Human	1	trait , alternate_id
12901770	CV408509	single nucleotide variant	NM_052845.4(MMAB):c.346A>G (p.Lys116Glu)	Methylmalonic aciduria, cblB type [RCV001828509]\|not provided [RCV000485504]	uncertain significance	12	109565121	109565121	Human	1	trait , alternate_id
13212042	CV425947	single nucleotide variant	NM_052845.4(MMAB):c.377C>T (p.Ser126Leu)	Methylmalonic aciduria, cblB type [RCV000673685]\|not provided [RCV000498258]	likely pathogenic\|uncertain significance	12	109561824	109561824	Human	1	trait , alternate_id
13437266	CV433695	single nucleotide variant	NM_052845.4(MMAB):c.222A>T (p.Glu74Asp)	Methylmalonic aciduria, cblB type [RCV001829450]	uncertain significance	12	109568838	109568838	Human	1	trait , alternate_id
13446308	CV437947	single nucleotide variant	NM_052845.4(MMAB):c.620C>T (p.Ala207Val)	Inborn genetic diseases [RCV002527401]\|Methylmalonic aciduria, cblB type [RCV000814646]\|not provided [RCV000513550]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	12	109559120	109559120	Human	2	trait , alternate_id
13462862	CV438956	single nucleotide variant	NM_052845.4(MMAB):c.521C>T (p.Ser174Leu)	MMAB-related disorder [RCV004752925]\|Methylmalonic aciduria, cblB type [RCV000671507]\|not provided [RCV000514970]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	12	109561103	109561103	Human	1	trait , alternate_id
13462184	CV439043	single nucleotide variant	NM_052845.4(MMAB):c.349-17T>C	Methylmalonic aciduria, cblB type [RCV001518792]\|not provided [RCV000513859]\|not specified [RCV000607066]	benign\|likely benign	12	109561869	109561869	Human	1	trait , alternate_id
13487788	CV461813	duplication	NM_052845.4(MMAB):c.349-8dup	MMAB-related disorder [RCV003962523]\|Methylmalonic aciduria, cblB type [RCV000532003]	benign\|likely benign\|uncertain significance	12	109561854	109561855	Human	1	trait , alternate_id
13538187	CV503517	single nucleotide variant	NM_052845.4(MMAB):c.666G>A (p.Thr222=)	Methylmalonic aciduria, cblB type [RCV000880841]\|not specified [RCV000611461]	likely benign	12	109557115	109557115	Human	1	trait , alternate_id
13539904	CV503835	single nucleotide variant	NM_052845.4(MMAB):c.584+15G>A	Methylmalonic aciduria, cblB type [RCV001110622]\|not specified [RCV000613917]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	12	109561025	109561025	Human	1	trait , alternate_id
13535695	CV504096	single nucleotide variant	NM_052845.4(MMAB):c.615C>G (p.Thr205=)	Methylmalonic aciduria, cblB type [RCV002066619]\|not specified [RCV000607955]	likely benign	12	109559125	109559125	Human	1	trait , alternate_id
13527153	CV504098	single nucleotide variant	NM_052845.4(MMAB):c.387G>A (p.Ala129=)	Methylmalonic aciduria, cblB type [RCV000924416]\|not specified [RCV000599646]	likely benign\|conflicting interpretations of pathogenicity	12	109561814	109561814	Human	1	trait , alternate_id
13539769	CV504508	single nucleotide variant	NM_052845.4(MMAB):c.561C>G (p.Ala187=)	Methylmalonic aciduria, cblB type [RCV001485301]\|not specified [RCV000613732]	likely benign	12	109561063	109561063	Human	1	trait , alternate_id
13534278	CV513097	single nucleotide variant	NM_052845.4(MMAB):c.577G>C (p.Glu193Gln)	Methylmalonic aciduria, cblB type [RCV000625542]	likely pathogenic	12	109561047	109561047	Human	1	trait , alternate_id
13612123	CV526608	deletion	NC_000012.12:g.(?_109561020)_(109565196_?)del	Methylmalonic aciduria, cblB type [RCV000642156]	likely pathogenic	12	109561020	109565196	Human	1	trait , alternate_id
13612114	CV526634	single nucleotide variant	NM_052845.4(MMAB):c.373G>A (p.Gly125Ser)	Methylmalonic aciduria, cblB type [RCV000642153]	uncertain significance	12	109561828	109561828	Human	1	trait , alternate_id
13612117	CV526881	single nucleotide variant	NM_052845.4(MMAB):c.316A>G (p.Lys106Glu)	Inborn genetic diseases [RCV004957938]\|Methylmalonic aciduria, cblB type [RCV000642154]	uncertain significance	12	109565151	109565151	Human	2	trait , alternate_id
13785539	CV546633	single nucleotide variant	NM_052845.4(MMAB):c.585-2A>C	Methylmalonic aciduria, cblB type [RCV000665914]	pathogenic	12	109559157	109559157	Human	1	trait , alternate_id
13785735	CV546635	deletion	NM_052845.4(MMAB):c.584+14_584+33del	Methylmalonic aciduria, cblB type [RCV000672499]	likely benign	12	109561007	109561026	Human	1	trait , alternate_id
13785800	CV546641	duplication	NM_052845.4(MMAB):c.573_577dup (p.Glu193fs)	Methylmalonic aciduria, cblB type [RCV000674468]	likely pathogenic	12	109561046	109561047	Human	1	trait , alternate_id
13785580	CV546647	single nucleotide variant	NM_052845.4(MMAB):c.557G>A (p.Arg186Gln)	Methylmalonic acidemia [RCV004017714]\|Methylmalonic aciduria, cblB type [RCV000667435]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	12	109561067	109561067	Human	3	trait , alternate_id
13785615	CV546654	single nucleotide variant	NM_052845.4(MMAB):c.398C>T (p.Ser133Phe)	Methylmalonic aciduria, cblB type [RCV000668683]	conflicting interpretations of pathogenicity\|uncertain significance	12	109561803	109561803	Human	1	trait , alternate_id
13785770	CV546655	deletion	NM_052845.4(MMAB):c.107del (p.Gly36fs)	Methylmalonic aciduria, cblB type [RCV000673427]	likely pathogenic	12	109573374	109573374	Human	1	trait , alternate_id
13785634	CV546840	duplication	NM_052845.4(MMAB):c.578_584dup (p.Val196fs)	Methylmalonic aciduria, cblB type [RCV000669393]	likely pathogenic	12	109561039	109561040	Human	1	trait , alternate_id
13785551	CV546842	single nucleotide variant	NM_052845.4(MMAB):c.562G>A (p.Val188Met)	Methylmalonic aciduria, cblB type [RCV000666491]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	12	109561062	109561062	Human	1	trait , alternate_id
13785548	CV546844	single nucleotide variant	NM_052845.4(MMAB):c.454G>T (p.Glu152Ter)	Methylmalonic acidemia [RCV001194231]\|Methylmalonic aciduria, cblB type [RCV000666211]	pathogenic\|likely pathogenic	12	109561485	109561485	Human	3	trait , alternate_id
13785792	CV546850	deletion	NM_052845.4(MMAB):c.197-2del	Methylmalonic aciduria, cblB type [RCV000674351]	likely pathogenic	12	109568865	109568865	Human	1	trait , alternate_id
13785616	CV546936	microsatellite	NM_052845.4(MMAB):c.660_661del (p.Phe221fs)	Methylmalonic aciduria, cblB type [RCV000668717]	pathogenic\|likely pathogenic	12	109557120	109557121	Human		trait , alternate_id
13785639	CV546938	single nucleotide variant	NM_052845.4(MMAB):c.577G>A (p.Glu193Lys)	Methylmalonic aciduria, cblB type [RCV000669558]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	12	109561047	109561047	Human	1	trait , alternate_id
13785717	CV546948	deletion	NM_052845.4(MMAB):c.388_411del (p.Thr130_Glu137del)	Methylmalonic aciduria, cblB type [RCV000672026]	uncertain significance	12	109561790	109561813	Human	1	trait , alternate_id
13785532	CV546959	single nucleotide variant	NM_052845.4(MMAB):c.12C>A (p.Cys4Ter)	Methylmalonic acidemia [RCV005240422]\|Methylmalonic aciduria, cblB type [RCV000665638]\|not provided [RCV001576371]	pathogenic\|likely pathogenic	12	109573469	109573469	Human	3	trait , alternate_id
13785799	CV547188	deletion	NM_052845.4(MMAB):c.583_584+18del	Methylmalonic aciduria, cblB type [RCV000674465]	likely pathogenic	12	109561022	109561041	Human	1	trait , alternate_id
13821802	CV566308	single nucleotide variant	NM_052845.4(MMAB):c.541G>A (p.Ala181Thr)	Methylmalonic aciduria, cblB type [RCV000696401]	uncertain significance	12	109561083	109561083	Human	1	trait , alternate_id
14393727	CV609821	single nucleotide variant	NM_052845.4(MMAB):c.43C>T (p.Arg15Cys)	Methylmalonic aciduria, cblB type [RCV001869021]\|not provided [RCV000756342]	uncertain significance	12	109573438	109573438	Human	1	trait , alternate_id
14721442	CV640594	single nucleotide variant	NM_052845.4(MMAB):c.583C>T (p.Arg195Cys)	Methylmalonic aciduria, cblB type [RCV000797106]	uncertain significance	12	109561041	109561041	Human	1	trait , alternate_id
14736039	CV640595	microsatellite	NM_052845.4(MMAB):c.581_582del (p.Arg194fs)	Methylmalonic aciduria, cblB type [RCV000803441]	likely pathogenic	12	109561042	109561043	Human		trait , alternate_id
14709103	CV640596	single nucleotide variant	NM_052845.4(MMAB):c.424T>C (p.Tyr142His)	Methylmalonic aciduria, cblB type [RCV000792770]\|not provided [RCV004692245]	uncertain significance	12	109561515	109561515	Human	1	trait , alternate_id
14738221	CV640597	single nucleotide variant	NM_052845.4(MMAB):c.406C>A (p.Arg136=)	Methylmalonic aciduria, cblB type [RCV000820832]	likely benign\|uncertain significance	12	109561795	109561795	Human	1	trait , alternate_id
14725591	CV640598	single nucleotide variant	NM_052845.4(MMAB):c.402G>A (p.Ser134=)	Methylmalonic aciduria, cblB type [RCV000815261]	likely benign\|uncertain significance	12	109561799	109561799	Human	1	trait , alternate_id
14708491	CV652203	single nucleotide variant	NM_052845.4(MMAB):c.644+1G>A	Methylmalonic aciduria, cblB type [RCV000809713]	likely pathogenic	12	109559095	109559095	Human	1	trait , alternate_id
14704929	CV652205	single nucleotide variant	NM_052845.4(MMAB):c.519+1G>A	Methylmalonic aciduria, cblB type [RCV000799238]	likely pathogenic	12	109561419	109561419	Human	1	trait , alternate_id
14740660	CV665350	single nucleotide variant	NM_052845.4(MMAB):c.584+254A>G	Methylmalonic aciduria, cblB type [RCV001533428]\|not provided [RCV000840439]	benign	12	109560786	109560786	Human	1	trait , alternate_id
14730176	CV666209	single nucleotide variant	NM_052845.4(MMAB):c.348+105T>C	Methylmalonic aciduria, cblB type [RCV001533430]\|not provided [RCV000835551]	benign	12	109565014	109565014	Human	1	trait , alternate_id
15141619	CV693136	single nucleotide variant	NM_052845.4(MMAB):c.150G>A (p.Ser50=)	MMAB-related disorder [RCV003948259]\|Methylmalonic aciduria, cblB type [RCV000877707]	likely benign\|conflicting interpretations of pathogenicity	12	109571695	109571695	Human	1	trait , alternate_id
15163652	CV713322	single nucleotide variant	NM_052845.4(MMAB):c.516G>T (p.Leu172=)	Methylmalonic aciduria, cblB type [RCV000970532]	likely benign	12	109561423	109561423	Human	1	trait , alternate_id
15169538	CV724878	single nucleotide variant	NM_052845.4(MMAB):c.10T>C (p.Cys4Arg)	MMAB-related disorder [RCV003910420]\|Methylmalonic aciduria, cblB type [RCV000883287]	likely benign\|conflicting interpretations of pathogenicity	12	109573471	109573471	Human	1	trait , alternate_id
15155143	CV738434	single nucleotide variant	NM_052845.4(MMAB):c.57C>T (p.Arg19=)	Methylmalonic aciduria, cblB type [RCV001274954]	likely benign\|uncertain significance	12	109573424	109573424	Human	1	trait , alternate_id
15182048	CV744727	single nucleotide variant	NM_052845.4(MMAB):c.349-10C>T	Methylmalonic aciduria, cblB type [RCV001277391]	likely benign\|uncertain significance	12	109561862	109561862	Human	1	trait , alternate_id
15101304	CV753077	single nucleotide variant	NM_052845.4(MMAB):c.222A>G (p.Glu74=)	Methylmalonic aciduria, cblB type [RCV001405987]	likely benign	12	109568838	109568838	Human	1	trait , alternate_id
15155546	CV753078	single nucleotide variant	NM_052845.4(MMAB):c.27T>C (p.Arg9=)	Methylmalonic aciduria, cblB type [RCV002541018]	likely benign	12	109573454	109573454	Human	1	trait , alternate_id
15192088	CV768877	single nucleotide variant	NM_052845.4(MMAB):c.418T>C (p.Leu140=)	Methylmalonic aciduria, cblB type [RCV001399369]	likely benign	12	109561783	109561783	Human	1	trait , alternate_id
15127384	CV768878	single nucleotide variant	NM_052845.4(MMAB):c.99G>A (p.Gln33=)	MMAB-related disorder [RCV003895724]\|Methylmalonic aciduria, cblB type [RCV001274953]\|not provided [RCV003332273]	likely benign\|uncertain significance	12	109573382	109573382	Human	1	trait , alternate_id
15111226	CV784261	single nucleotide variant	NM_052845.4(MMAB):c.615C>T (p.Thr205=)	Methylmalonic aciduria, cblB type [RCV000977594]	likely benign	12	109559125	109559125	Human	1	trait , alternate_id
15110837	CV784262	single nucleotide variant	NM_052845.4(MMAB):c.540G>A (p.Ser180=)	Methylmalonic aciduria, cblB type [RCV000977517]\|not provided [RCV003392716]	likely benign	12	109561084	109561084	Human	1	trait , alternate_id
15146681	CV784263	single nucleotide variant	NM_052845.4(MMAB):c.522G>A (p.Ser174=)	Methylmalonic aciduria, cblB type [RCV000983917]	likely benign\|conflicting interpretations of pathogenicity	12	109561102	109561102	Human	1	trait , alternate_id
15117839	CV784264	single nucleotide variant	NM_052845.4(MMAB):c.471C>T (p.Ile157=)	Methylmalonic aciduria, cblB type [RCV001488988]	likely benign	12	109561468	109561468	Human	1	trait , alternate_id
15123226	CV784265	single nucleotide variant	NM_052845.4(MMAB):c.432G>C (p.Thr144=)	Methylmalonic aciduria, cblB type [RCV001498503]	likely benign	12	109561507	109561507	Human	1	trait , alternate_id
15133540	CV784266	single nucleotide variant	NM_052845.4(MMAB):c.16C>T (p.Leu6=)	Methylmalonic aciduria, cblB type [RCV000981568]	likely benign	12	109573465	109573465	Human	1	trait , alternate_id
15108274	CV787792	single nucleotide variant	NM_052845.4(MMAB):c.422-6C>T	Methylmalonic aciduria, cblB type [RCV000977001]	likely benign	12	109561523	109561523	Human	1	trait , alternate_id
26889520	CV839254	single nucleotide variant	NM_052845.4(MMAB):c.554G>A (p.Cys185Tyr)	Methylmalonic aciduria, cblB type [RCV001066216]	uncertain significance	12	109561070	109561070	Human	1	trait , alternate_id
26887682	CV839255	single nucleotide variant	NM_052845.4(MMAB):c.468G>A (p.Trp156Ter)	Methylmalonic aciduria, cblB type [RCV001035736]	pathogenic	12	109561471	109561471	Human	1	trait , alternate_id
26889439	CV839256	single nucleotide variant	NM_052845.4(MMAB):c.370G>A (p.Val124Ile)	Methylmalonic aciduria, cblB type [RCV001065171]	uncertain significance	12	109561831	109561831	Human	1	trait , alternate_id
26888003	CV839257	single nucleotide variant	NM_052845.4(MMAB):c.256G>A (p.Val86Met)	Methylmalonic aciduria, cblB type [RCV001042369]	uncertain significance	12	109568804	109568804	Human	1	trait , alternate_id
26889453	CV839258	single nucleotide variant	NM_052845.4(MMAB):c.44G>A (p.Arg15His)	Methylmalonic aciduria, cblB type [RCV001065308]	uncertain significance	12	109573437	109573437	Human	1	trait , alternate_id
26889645	CV839259	single nucleotide variant	NM_052845.4(MMAB):c.1A>C (p.Met1Leu)	Methylmalonic aciduria, cblB type [RCV001067639]	pathogenic\|likely pathogenic\|uncertain significance	12	109573480	109573480	Human	1	trait , alternate_id
28868206	CV869180	single nucleotide variant	NM_052845.4(MMAB):c.*3296G>A	Methylmalonic aciduria, cblB type [RCV001112319]	uncertain significance	12	109553732	109553732	Human	1	trait , alternate_id
28868207	CV869181	single nucleotide variant	NM_052845.4(MMAB):c.*3295C>T	Methylmalonic aciduria, cblB type [RCV001112320]	uncertain significance	12	109553733	109553733	Human	1	trait , alternate_id
28868209	CV869182	single nucleotide variant	NM_052845.4(MMAB):c.*3260G>A	Methylmalonic aciduria, cblB type [RCV001112321]	uncertain significance	12	109553768	109553768	Human	1	trait , alternate_id
28868211	CV869183	single nucleotide variant	NM_052845.4(MMAB):c.*3142G>A	Methylmalonic aciduria, cblB type [RCV001112322]	uncertain significance	12	109553886	109553886	Human	1	trait , alternate_id
28870668	CV869184	single nucleotide variant	NM_052845.4(MMAB):c.*3074C>T	Methylmalonic aciduria, cblB type [RCV001113669]	uncertain significance	12	109553954	109553954	Human	1	trait , alternate_id
28870672	CV869185	single nucleotide variant	NM_052845.4(MMAB):c.*3043T>G	Methylmalonic aciduria, cblB type [RCV001113670]	uncertain significance	12	109553985	109553985	Human	1	trait , alternate_id
28870674	CV869186	single nucleotide variant	NM_052845.4(MMAB):c.*3027T>C	Methylmalonic aciduria, cblB type [RCV001113671]	uncertain significance	12	109554001	109554001	Human	1	trait , alternate_id
28870676	CV869187	single nucleotide variant	NM_052845.4(MMAB):c.*2913C>T	Methylmalonic aciduria, cblB type [RCV001113672]	uncertain significance	12	109554115	109554115	Human	1	trait , alternate_id
28870678	CV869188	single nucleotide variant	NM_052845.4(MMAB):c.*2890C>T	Methylmalonic aciduria, cblB type [RCV001113673]	uncertain significance	12	109554138	109554138	Human	1	trait , alternate_id
28910927	CV869189	single nucleotide variant	NM_052845.4(MMAB):c.*2783G>A	Methylmalonic aciduria, cblB type [RCV001109659]	uncertain significance	12	109554245	109554245	Human	1	trait , alternate_id
28910928	CV869190	single nucleotide variant	NM_052845.4(MMAB):c.*2739C>T	Methylmalonic aciduria, cblB type [RCV001109660]	uncertain significance	12	109554289	109554289	Human	1	trait , alternate_id
28910929	CV869191	single nucleotide variant	NM_052845.4(MMAB):c.*2736G>C	Methylmalonic aciduria, cblB type [RCV001109661]	uncertain significance	12	109554292	109554292	Human	1	trait , alternate_id
28867650	CV869192	single nucleotide variant	NM_052845.4(MMAB):c.*2392C>T	Methylmalonic aciduria, cblB type [RCV001111964]	uncertain significance	12	109554636	109554636	Human	1	trait , alternate_id
28867654	CV869193	single nucleotide variant	NM_052845.4(MMAB):c.*2326C>G	Methylmalonic aciduria, cblB type [RCV001111965]	uncertain significance	12	109554702	109554702	Human	1	trait , alternate_id
28867657	CV869194	single nucleotide variant	NM_052845.4(MMAB):c.*2150A>G	Methylmalonic aciduria, cblB type [RCV001111966]	uncertain significance	12	109554878	109554878	Human	1	trait , alternate_id
28868350	CV869195	single nucleotide variant	NM_052845.4(MMAB):c.*2053C>T	Methylmalonic aciduria, cblB type [RCV001112419]	uncertain significance	12	109554975	109554975	Human	1	trait , alternate_id
28868351	CV869196	single nucleotide variant	NM_052845.4(MMAB):c.*2051C>T	Methylmalonic aciduria, cblB type [RCV001112420]	uncertain significance	12	109554977	109554977	Human	1	trait , alternate_id
28868352	CV869197	single nucleotide variant	NM_052845.4(MMAB):c.*1988C>T	Methylmalonic aciduria, cblB type [RCV001112421]	uncertain significance	12	109555040	109555040	Human	1	trait , alternate_id
28870847	CV869198	single nucleotide variant	NM_052845.4(MMAB):c.*1689C>T	Methylmalonic aciduria, cblB type [RCV001113765]	uncertain significance	12	109555339	109555339	Human	1	trait , alternate_id
28870850	CV869199	single nucleotide variant	NM_052845.4(MMAB):c.*1482C>T	Methylmalonic aciduria, cblB type [RCV001113766]	uncertain significance	12	109555546	109555546	Human	1	trait , alternate_id
28910992	CV869200	single nucleotide variant	NM_052845.4(MMAB):c.*1400G>A	Methylmalonic aciduria, cblB type [RCV001109752]	uncertain significance	12	109555628	109555628	Human	1	trait , alternate_id
28911435	CV869201	single nucleotide variant	NM_052845.4(MMAB):c.*710C>T	Methylmalonic aciduria, cblB type [RCV001110537]	uncertain significance	12	109556318	109556318	Human	1	trait , alternate_id
28868477	CV869202	single nucleotide variant	NM_052845.4(MMAB):c.*588C>T	Methylmalonic aciduria, cblB type [RCV001112509]	uncertain significance	12	109556440	109556440	Human	1	trait , alternate_id
28868479	CV869203	single nucleotide variant	NM_052845.4(MMAB):c.*503G>A	Methylmalonic aciduria, cblB type [RCV001112510]	uncertain significance	12	109556525	109556525	Human	1	trait , alternate_id
28871012	CV869204	single nucleotide variant	NM_052845.4(MMAB):c.*424G>A	Methylmalonic aciduria, cblB type [RCV001113849]	uncertain significance	12	109556604	109556604	Human	1	trait , alternate_id
28871014	CV869205	single nucleotide variant	NM_052845.4(MMAB):c.*422T>C	Methylmalonic aciduria, cblB type [RCV001113850]	uncertain significance	12	109556606	109556606	Human	1	trait , alternate_id
28871015	CV869206	single nucleotide variant	NM_052845.4(MMAB):c.*374T>A	Methylmalonic aciduria, cblB type [RCV001113851]	benign	12	109556654	109556654	Human	1	trait , alternate_id
28871017	CV869207	single nucleotide variant	NM_052845.4(MMAB):c.*348T>G	Methylmalonic aciduria, cblB type [RCV001113852]	uncertain significance	12	109556680	109556680	Human	1	trait , alternate_id
28911031	CV869208	single nucleotide variant	NM_052845.4(MMAB):c.*335G>A	Methylmalonic aciduria, cblB type [RCV001109830]	uncertain significance	12	109556693	109556693	Human	1	trait , alternate_id
28911032	CV869209	single nucleotide variant	NM_052845.4(MMAB):c.*301C>T	Methylmalonic aciduria, cblB type [RCV001109831]	uncertain significance	12	109556727	109556727	Human	1	trait , alternate_id
28911033	CV869210	single nucleotide variant	NM_052845.4(MMAB):c.654C>G (p.Asp218Glu)	Methylmalonic aciduria, cblB type [RCV001109832]	uncertain significance	12	109557127	109557127	Human	1	trait , alternate_id
28911480	CV869211	single nucleotide variant	NM_052845.4(MMAB):c.401C>T (p.Ser134Leu)	Methylmalonic aciduria, cblB type [RCV001110623]	uncertain significance	12	109561800	109561800	Human	1	trait , alternate_id
28868620	CV869212	single nucleotide variant	NM_052845.4(MMAB):c.254C>T (p.Ala85Val)	Methylmalonic aciduria, cblB type [RCV001112608]	uncertain significance	12	109568806	109568806	Human	1	trait , alternate_id
28871185	CV869213	single nucleotide variant	NM_052845.4(MMAB):c.158C>T (p.Pro53Leu)	Inborn genetic diseases [RCV002556225]\|Methylmalonic aciduria, cblB type [RCV001113944]\|not provided [RCV004693690]	uncertain significance	12	109571687	109571687	Human	2	trait , alternate_id
28871187	CV869214	single nucleotide variant	NM_052845.4(MMAB):c.68G>A (p.Gly23Asp)	Inborn genetic diseases [RCV002556226]\|Methylmalonic aciduria, cblB type [RCV001113945]\|not provided [RCV003480960]	uncertain significance	12	109573413	109573413	Human	2	trait , alternate_id
28871189	CV869215	single nucleotide variant	NM_052845.4(MMAB):c.7G>A (p.Val3Met)	Methylmalonic aciduria, cblB type [RCV001113946]	uncertain significance	12	109573474	109573474	Human	1	trait , alternate_id
28871193	CV869216	single nucleotide variant	NM_052845.4(MMAB):c.-11C>G	Hyperimmunoglobulin D with periodic fever [RCV001109915]\|Methylmalonic aciduria, cblB type [RCV001113947]\|Mevalonic aciduria [RCV001109914]	uncertain significance	12	109573491	109573491	Human	3	trait , alternate_id
8634489	CV89709	single nucleotide variant	NM_052845.4(MMAB):c.225G>A (p.Arg75=)	Methylmalonic aciduria, cblB type [RCV003607835]	likely benign\|not provided	12	109568835	109568835	Human	1	trait , alternate_id
38491876	CV956740	single nucleotide variant	NM_052845.4(MMAB):c.589G>T (p.Val197Leu)	Methylmalonic aciduria, cblB type [RCV001239723]\|not provided [RCV004692291]	uncertain significance	12	109559151	109559151	Human	1	trait , alternate_id
38460058	CV956741	single nucleotide variant	NM_052845.4(MMAB):c.247T>C (p.Phe83Leu)	Methylmalonic aciduria, cblB type [RCV001246675]	uncertain significance	12	109568813	109568813	Human	1	trait , alternate_id
38494746	CV960771	single nucleotide variant	NM_052845.4(MMAB):c.290+1G>A	Methylmalonic aciduria, cblB type [RCV001241506]	likely pathogenic	12	109568769	109568769	Human	1	trait , alternate_id
40906484	CV979268	single nucleotide variant	NM_052845.4(MMAB):c.665C>T (p.Thr222Met)	Methylmalonic aciduria, cblB type [RCV001279871]\|not provided [RCV001357401]	likely benign\|uncertain significance	12	109557116	109557116	Human	1	trait , alternate_id
40906485	CV979269	single nucleotide variant	NM_052845.4(MMAB):c.584+6A>G	Inborn genetic diseases [RCV002537865]\|Methylmalonic aciduria, cblB type [RCV001279872]	uncertain significance	12	109561034	109561034	Human	2	trait , alternate_id
40906486	CV979270	single nucleotide variant	NM_052845.4(MMAB):c.576C>T (p.Ala192=)	Methylmalonic aciduria, cblB type [RCV001279873]	likely benign\|uncertain significance	12	109561048	109561048	Human	1	trait , alternate_id
40906487	CV979271	single nucleotide variant	NM_052845.4(MMAB):c.539C>T (p.Ser180Leu)	Methylmalonic aciduria, cblB type [RCV001279874]	uncertain significance	12	109561085	109561085	Human	1	trait , alternate_id
40906488	CV979272	single nucleotide variant	NM_052845.4(MMAB):c.503C>T (p.Thr168Met)	Inborn genetic diseases [RCV003166608]\|Methylmalonic aciduria, cblB type [RCV001279875]	uncertain significance	12	109561436	109561436	Human	2	trait , alternate_id
40906489	CV979273	single nucleotide variant	NM_052845.4(MMAB):c.378G>A (p.Ser126=)	Methylmalonic aciduria, cblB type [RCV001279876]	likely benign\|uncertain significance	12	109561823	109561823	Human	1	trait , alternate_id
40904375	CV979274	single nucleotide variant	NM_052845.4(MMAB):c.372C>T (p.Val124=)	Methylmalonic aciduria, cblB type [RCV001277389]	likely benign\|uncertain significance	12	109561829	109561829	Human	1	trait , alternate_id
40904376	CV979275	single nucleotide variant	NM_052845.4(MMAB):c.349-9G>A	Methylmalonic aciduria, cblB type [RCV001277390]	likely benign\|uncertain significance	12	109561861	109561861	Human	1	trait , alternate_id
40904377	CV979276	single nucleotide variant	NM_052845.4(MMAB):c.298C>T (p.Leu100=)	Methylmalonic aciduria, cblB type [RCV001277392]	likely benign\|uncertain significance	12	109565169	109565169	Human	1	trait , alternate_id
40904378	CV979277	single nucleotide variant	NM_052845.4(MMAB):c.206G>C (p.Ser69Thr)	Methylmalonic aciduria, cblB type [RCV001277393]	uncertain significance	12	109568854	109568854	Human	1	trait , alternate_id
40904379	CV979278	single nucleotide variant	NM_052845.4(MMAB):c.184A>G (p.Thr62Ala)	Inborn genetic diseases [RCV004951439]\|Methylmalonic aciduria, cblB type [RCV001277394]	uncertain significance	12	109571661	109571661	Human	2	trait , alternate_id
40904380	CV979279	single nucleotide variant	NM_052845.4(MMAB):c.116G>A (p.Gly39Asp)	Methylmalonic aciduria, cblB type [RCV001277395]	uncertain significance	12	109573365	109573365	Human	1	trait , alternate_id
40904381	CV979280	single nucleotide variant	NM_052845.4(MMAB):c.14G>A (p.Gly5Asp)	Inborn genetic diseases [RCV004035446]\|Methylmalonic aciduria, cblB type [RCV001277396]	uncertain significance	12	109573467	109573467	Human	2	trait , alternate_id
126735994	CV994881	single nucleotide variant	NM_052845.4(MMAB):c.248T>C (p.Phe83Ser)	Methylmalonic aciduria, cblB type [RCV001304679]	uncertain significance	12	109568812	109568812	Human	1	trait , alternate_id
8557208	CV18135	single nucleotide variant	MMAB, IVS3, G-A, -1	Methylmalonic aciduria cblB type [RCV000003242]	pathogenic				Human		trait , alternate_id

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