MMAB[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 57157	GRCh38/hg38 12q23.3-24.13(chr12:105234677-112194686)x1	LOC130008692, LOC130008693 +316 more	Copy number loss	See cases	GPathogenic
Select item 147614	GRCh38/hg38 12q24.11(chr12:109398462-109637311)x3	KCTD10, LOC130008716 +4 more	Copy number gain	See cases	GBenign
Select item 882564	NM_052845.4(MMAB):c.*3296G>A	MMAB	Single nucleotide variant (3 prime UTR variant +1 more)	Methylmalonic aciduria, cblB type	GUncertain significance
Select item 882565	NM_052845.4(MMAB):c.*3295C>T	MMAB	Single nucleotide variant (3 prime UTR variant +1 more)	Methylmalonic aciduria, cblB type	GUncertain significance
Select item 307000	NM_052845.4(MMAB):c.*3265A>G	MMAB	Single nucleotide variant (3 prime UTR variant +1 more)	Methylmalonic aciduria, cblB type	GUncertain significance
Select item 882566	NM_052845.4(MMAB):c.*3260G>A	MMAB	Single nucleotide variant (3 prime UTR variant +1 more)	Methylmalonic aciduria, cblB type	GUncertain significance
Select item 307001	NM_052845.4(MMAB):c.*3178C>A	MMAB	Single nucleotide variant (3 prime UTR variant +1 more)	Methylmalonic aciduria, cblB type +1 more	GBenign
Select item 307002	NM_052845.4(MMAB):c.*3152A>T	MMAB	Single nucleotide variant (3 prime UTR variant +1 more)	Methylmalonic aciduria, cblB type	GUncertain significance
Select item 307003	NM_052845.4(MMAB):c.*3148G>A	MMAB	Single nucleotide variant (3 prime UTR variant +1 more)	Methylmalonic aciduria, cblB type +1 more	GBenign
Select item 882567	NM_052845.4(MMAB):c.*3142G>A	MMAB	Single nucleotide variant (3 prime UTR variant +1 more)	Methylmalonic aciduria, cblB type	GUncertain significance
Select item 883345	NM_052845.4(MMAB):c.*3074C>T	MMAB	Single nucleotide variant (3 prime UTR variant +1 more)	Methylmalonic aciduria, cblB type	GUncertain significance
Select item 883346	NM_052845.4(MMAB):c.*3043T>G	MMAB	Single nucleotide variant (3 prime UTR variant +1 more)	Methylmalonic aciduria, cblB type	GUncertain significance
Select item 883347	NM_052845.4(MMAB):c.*3027T>C	MMAB	Single nucleotide variant (3 prime UTR variant +1 more)	Methylmalonic aciduria, cblB type	GUncertain significance
Select item 307004	NM_052845.4(MMAB):c.*3019A>G	MMAB	Single nucleotide variant (3 prime UTR variant +1 more)	Methylmalonic aciduria, cblB type	GUncertain significance
Select item 307005	NM_052845.4(MMAB):c.*2950C>T	MMAB	Single nucleotide variant (3 prime UTR variant +1 more)	Methylmalonic acidemia	GUncertain significance
Select item 307006	NM_052845.4(MMAB):c.*2914G>A	MMAB	Single nucleotide variant (3 prime UTR variant +1 more)	Methylmalonic aciduria, cblB type	GUncertain significance
Select item 883348	NM_052845.4(MMAB):c.*2913C>T	MMAB	Single nucleotide variant (3 prime UTR variant +1 more)	Methylmalonic aciduria, cblB type	GUncertain significance
Select item 883349	NM_052845.4(MMAB):c.*2890C>T	MMAB	Single nucleotide variant (3 prime UTR variant +1 more)	Methylmalonic aciduria, cblB type	GUncertain significance
Select item 307007	NM_052845.4(MMAB):c.*2835T>C	MMAB	Single nucleotide variant (3 prime UTR variant +1 more)	Methylmalonic aciduria, cblB type +1 more	GBenign
Select item 880983	NM_052845.4(MMAB):c.*2783G>A	MMAB	Single nucleotide variant (3 prime UTR variant +1 more)	Methylmalonic aciduria, cblB type	GUncertain significance
Select item 307008	NM_052845.4(MMAB):c.*2740G>A	MMAB	Single nucleotide variant (3 prime UTR variant +1 more)	Methylmalonic aciduria, cblB type	GUncertain significance
Select item 880984	NM_052845.4(MMAB):c.*2739C>T	MMAB	Single nucleotide variant (3 prime UTR variant +1 more)	Methylmalonic aciduria, cblB type	GUncertain significance
Select item 880985	NM_052845.4(MMAB):c.*2736G>C	MMAB	Single nucleotide variant (3 prime UTR variant +1 more)	Methylmalonic aciduria, cblB type	GUncertain significance
Select item 307009	NM_052845.4(MMAB):c.*2701G>C	MMAB	Single nucleotide variant (3 prime UTR variant +1 more)	Methylmalonic aciduria, cblB type +1 more	GBenign
Select item 307010	NM_052845.4(MMAB):c.*2684G>C	MMAB	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 307011	NM_052845.4(MMAB):c.*2679G>C	MMAB	Single nucleotide variant (3 prime UTR variant +1 more)	Methylmalonic aciduria, cblB type	GUncertain significance
Select item 307012	NM_052845.4(MMAB):c.*2636A>G	MMAB	Single nucleotide variant (3 prime UTR variant +1 more)	Methylmalonic aciduria, cblB type	GUncertain significance
Select item 307013	NM_052845.4(MMAB):c.*2628C>T	MMAB	Single nucleotide variant (3 prime UTR variant +1 more)	Methylmalonic aciduria, cblB type +1 more	GBenign
Select item 307014	NM_052845.4(MMAB):c.*2619A>T	MMAB	Single nucleotide variant (3 prime UTR variant +1 more)	Methylmalonic aciduria, cblB type	GUncertain significance
Select item 307015	NM_052845.4(MMAB):c.*2503G>A	MMAB	Single nucleotide variant (3 prime UTR variant +1 more)	Methylmalonic aciduria, cblB type	GUncertain significance
Select item 882346	NM_052845.4(MMAB):c.*2392C>T	MMAB	Single nucleotide variant (3 prime UTR variant +1 more)	Methylmalonic aciduria, cblB type	GUncertain significance
Select item 307016	NM_052845.4(MMAB):c.*2342G>A	MMAB	Single nucleotide variant (3 prime UTR variant +1 more)	Methylmalonic aciduria, cblB type	GUncertain significance
Select item 882347	NM_052845.4(MMAB):c.*2326C>G	MMAB	Single nucleotide variant (3 prime UTR variant +1 more)	Methylmalonic aciduria, cblB type	GUncertain significance
Select item 307017	NM_052845.4(MMAB):c.*2186T>C	MMAB	Single nucleotide variant (3 prime UTR variant +1 more)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 882348	NM_052845.4(MMAB):c.*2150A>G	MMAB	Single nucleotide variant (3 prime UTR variant +1 more)	Methylmalonic aciduria, cblB type	GUncertain significance
Select item 882614	NM_052845.4(MMAB):c.*2053C>T	MMAB	Single nucleotide variant (3 prime UTR variant +1 more)	Methylmalonic aciduria, cblB type	GUncertain significance
Select item 882615	NM_052845.4(MMAB):c.*2051C>T	MMAB	Single nucleotide variant (3 prime UTR variant +1 more)	Methylmalonic aciduria, cblB type	GUncertain significance
Select item 307018	NM_052845.4(MMAB):c.*2023C>T	MMAB	Single nucleotide variant (3 prime UTR variant +1 more)	Methylmalonic aciduria, cblB type	GUncertain significance
Select item 882616	NM_052845.4(MMAB):c.*1988C>T	MMAB	Single nucleotide variant (3 prime UTR variant +1 more)	Methylmalonic aciduria, cblB type	GUncertain significance
Select item 307019	NM_052845.4(MMAB):c.*1952T>C	MMAB	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 307021	NM_052845.4(MMAB):c.*1859TA[10]	MMAB	Microsatellite (3 prime UTR variant +1 more)	Methylmalonic acidemia	GUncertain significance
Select item 307020	NM_052845.4(MMAB):c.*1859TA[9]	MMAB	Microsatellite (3 prime UTR variant +1 more)	Methylmalonic acidemia	GLikely benign
Select item 307022	NM_052845.4(MMAB):c.*1859TA[7]	MMAB	Microsatellite (3 prime UTR variant +1 more)	Methylmalonic acidemia	GLikely benign
Select item 307023	NM_052845.4(MMAB):c.*1810G>A	MMAB	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 307024	NM_052845.4(MMAB):c.1748_1752dup	MMAB	Duplication (3 prime UTR variant +1 more)	Methylmalonic acidemia +1 more	GUncertain significance
Select item 307025	NM_052845.4(MMAB):c.*1747A>G	MMAB	Single nucleotide variant (3 prime UTR variant +1 more)	Methylmalonic aciduria, cblB type	GUncertain significance
Select item 307026	NM_052845.4(MMAB):c.*1729A>C	MMAB	Single nucleotide variant (3 prime UTR variant +1 more)	Methylmalonic aciduria, cblB type +1 more	GBenign
Select item 883393	NM_052845.4(MMAB):c.*1689C>T	MMAB	Single nucleotide variant (3 prime UTR variant +1 more)	Methylmalonic aciduria, cblB type	GUncertain significance
Select item 307027	NM_052845.4(MMAB):c.*1685G>A	MMAB	Single nucleotide variant (3 prime UTR variant +1 more)	Methylmalonic aciduria, cblB type	GUncertain significance
Select item 307028	NM_052845.4(MMAB):c.*1683G>A	MMAB	Single nucleotide variant (3 prime UTR variant +1 more)	Methylmalonic aciduria, cblB type	GUncertain significance
Select item 307029	NM_052845.4(MMAB):c.*1657G>A	MMAB	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 307032	NM_052845.4(MMAB):c.1576_1578del	MMAB	Deletion (3 prime UTR variant +1 more)	Methylmalonic acidemia +1 more	GUncertain significance
Select item 307031	NM_052845.4(MMAB):c.1577_1578del	MMAB	Deletion (3 prime UTR variant +1 more)	Methylmalonic acidemia +1 more	GUncertain significance
Select item 307030	NM_052845.4(MMAB):c.*1578del	MMAB	Deletion (3 prime UTR variant +1 more)	Methylmalonic acidemia	GUncertain significance
Select item 307033	NM_052845.4(MMAB):c.1554_1556del	MMAB	Deletion (3 prime UTR variant +1 more)	Methylmalonic acidemia	GUncertain significance
Select item 307034	NM_052845.4(MMAB):c.*1554del	MMAB	Deletion (3 prime UTR variant +1 more)	Methylmalonic acidemia	GUncertain significance
Select item 307035	NM_052845.4(MMAB):c.*1535G>A	MMAB	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 883394	NM_052845.4(MMAB):c.*1482C>T	MMAB	Single nucleotide variant (3 prime UTR variant +1 more)	Methylmalonic aciduria, cblB type	GUncertain significance
Select item 307036	NM_052845.4(MMAB):c.*1467C>T	MMAB	Single nucleotide variant (3 prime UTR variant +1 more)	Methylmalonic aciduria, cblB type +1 more	GBenign
Select item 307037	NM_052845.4(MMAB):c.*1428C>T	MMAB	Single nucleotide variant (3 prime UTR variant +1 more)	Methylmalonic aciduria, cblB type	GUncertain significance
Select item 307038	NM_052845.4(MMAB):c.*1409G>A	MMAB	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 881045	NM_052845.4(MMAB):c.*1400G>A	MMAB	Single nucleotide variant (3 prime UTR variant +1 more)	Methylmalonic aciduria, cblB type	GUncertain significance
Select item 307039	NM_052845.4(MMAB):c.*1230G>T	MMAB	Single nucleotide variant (3 prime UTR variant +1 more)	Methylmalonic aciduria, cblB type +1 more	GBenign
Select item 307040	NM_052845.4(MMAB):c.*1121C>T	MMAB	Single nucleotide variant (3 prime UTR variant +1 more)	Methylmalonic aciduria, cblB type	GUncertain significance
Select item 307041	NM_052845.4(MMAB):c.*1088A>T	MMAB	Single nucleotide variant (3 prime UTR variant +1 more)	Methylmalonic aciduria, cblB type	GUncertain significance
Select item 307042	NM_052845.4(MMAB):c.1076_1079del	MMAB	Deletion (3 prime UTR variant +1 more)	Methylmalonic acidemia	GUncertain significance
Select item 307043	NM_052845.4(MMAB):c.*1067C>T	MMAB	Single nucleotide variant (3 prime UTR variant +1 more)	Methylmalonic aciduria, cblB type	GUncertain significance
Select item 307044	NM_052845.4(MMAB):c.*1005A>G	MMAB	Single nucleotide variant (3 prime UTR variant +1 more)	Methylmalonic aciduria, cblB type +1 more	GBenign
Select item 307045	NM_052845.4(MMAB):c.*961G>A	MMAB	Single nucleotide variant (3 prime UTR variant +1 more)	Methylmalonic aciduria, cblB type	GUncertain significance
Select item 307046	NM_052845.4(MMAB):c.*891C>A	MMAB	Single nucleotide variant (3 prime UTR variant +1 more)	Methylmalonic aciduria, cblB type +1 more	GBenign
Select item 307047	NM_052845.4(MMAB):c.*857G>C	MMAB	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 307048	NM_052845.4(MMAB):c.*815T>C	MMAB	Single nucleotide variant (3 prime UTR variant +1 more)	Methylmalonic aciduria, cblB type	GUncertain significance
Select item 307049	NM_052845.4(MMAB):c.*721T>G	MMAB	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 307050	NM_052845.4(MMAB):c.*716C>T	MMAB	Single nucleotide variant (3 prime UTR variant +1 more)	Methylmalonic aciduria, cblB type	GUncertain significance
Select item 881503	NM_052845.4(MMAB):c.*710C>T	MMAB	Single nucleotide variant (3 prime UTR variant +1 more)	Methylmalonic aciduria, cblB type	GUncertain significance
Select item 307051	NM_052845.4(MMAB):c.*691A>C	MMAB	Single nucleotide variant (3 prime UTR variant +1 more)	Methylmalonic aciduria, cblB type	GUncertain significance
Select item 307052	NM_052845.4(MMAB):c.*656C>A	MMAB	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 307053	NM_052845.4(MMAB):c.*625G>C	MMAB	Single nucleotide variant (3 prime UTR variant +1 more)	Methylmalonic aciduria, cblB type +1 more	GBenign
Select item 882662	NM_052845.4(MMAB):c.*588C>T	MMAB	Single nucleotide variant (3 prime UTR variant +1 more)	Methylmalonic aciduria, cblB type	GUncertain significance
Select item 307054	NM_052845.4(MMAB):c.*564G>C	MMAB	Single nucleotide variant (3 prime UTR variant +1 more)	Methylmalonic aciduria, cblB type +1 more	GBenign
Select item 307055	NM_052845.4(MMAB):c.*554G>A	MMAB	Single nucleotide variant (3 prime UTR variant +1 more)	Methylmalonic aciduria, cblB type	GUncertain significance
Select item 307056	NM_052845.4(MMAB):c.*509C>T	MMAB	Single nucleotide variant (3 prime UTR variant +1 more)	Methylmalonic aciduria, cblB type	GUncertain significance
Select item 882663	NM_052845.4(MMAB):c.*503G>A	MMAB	Single nucleotide variant (3 prime UTR variant +1 more)	Methylmalonic aciduria, cblB type	GUncertain significance
Select item 883436	NM_052845.4(MMAB):c.*424G>A	MMAB	Single nucleotide variant (3 prime UTR variant +1 more)	Methylmalonic aciduria, cblB type	GUncertain significance
Select item 883437	NM_052845.4(MMAB):c.*422T>C	MMAB	Single nucleotide variant (3 prime UTR variant +1 more)	Methylmalonic aciduria, cblB type	GUncertain significance
Select item 307057	NM_052845.4(MMAB):c.*404T>G	MMAB	Single nucleotide variant (3 prime UTR variant +1 more)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 307058	NM_052845.4(MMAB):c.*380AG[5]	MMAB	Microsatellite (3 prime UTR variant +1 more)	Methylmalonic acidemia	GUncertain significance
Select item 307059	NM_052845.4(MMAB):c.*380AG[3]	MMAB	Microsatellite (3 prime UTR variant +1 more)	Methylmalonic acidemia	GUncertain significance
Select item 307063	NM_052845.4(MMAB):c.*336TG[25]	MMAB	Microsatellite (3 prime UTR variant +1 more)	Methylmalonic acidemia	GUncertain significance
Select item 307062	NM_052845.4(MMAB):c.*336TG[24]	MMAB	Microsatellite (3 prime UTR variant +1 more)	Methylmalonic acidemia	GUncertain significance
Select item 307061	NM_052845.4(MMAB):c.*336TG[23]	MMAB	Microsatellite (3 prime UTR variant +1 more)	Methylmalonic acidemia	GUncertain significance
Select item 307060	NM_052845.4(MMAB):c.*380A>T	MMAB	Single nucleotide variant (3 prime UTR variant +1 more)	Methylmalonic aciduria, cblB type +1 more	GBenign
Select item 307066	NM_052845.4(MMAB):c.*336TG[19]	MMAB	Microsatellite (3 prime UTR variant +1 more)	Methylmalonic acidemia +1 more	GUncertain significance
Select item 307065	NM_052845.4(MMAB):c.*336TG[20]	MMAB	Microsatellite (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 307064	NM_052845.4(MMAB):c.*336TG[21]	MMAB	Microsatellite (3 prime UTR variant +1 more)	Methylmalonic acidemia +1 more	GUncertain significance
Select item 307071	NM_052845.4(MMAB):c.*378T>A	MMAB	Single nucleotide variant (3 prime UTR variant +1 more)	Methylmalonic aciduria, cblB type +1 more	GBenign
Select item 307070	NM_052845.4(MMAB):c.364_378delinsAGA	MMAB	Indel (3 prime UTR variant +1 more)	Methylmalonic acidemia	GUncertain significance
Select item 307069	NM_052845.4(MMAB):c.366_378delinsAGA	MMAB	Indel (3 prime UTR variant +1 more)	Methylmalonic acidemia	GUncertain significance
Select item 307068	NM_052845.4(MMAB):c.368_378delinsAGA	MMAB	Indel (3 prime UTR variant +1 more)	Methylmalonic acidemia	GUncertain significance

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