Related gene-specific medical variations for Gene (Select 326625) - ClinVar

Links from Gene

Items: 93

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3382261	NM_052845.4(MMAB):c.584+2T>C	MMAB	Single nucleotide variant (splice donor variant)	Methylmalonic aciduria, cblB type	GLikely pathogenic
Select item 3244317	NC_000012.11:g.(?_110009434)_(110009535_?)dup	MMAB	Duplication	Methylmalonic aciduria, cblB type	GLikely pathogenic
Select item 3244316	NC_000012.11:g.(?_110002904)_(110003001_?)del	MMAB	Deletion	Methylmalonic aciduria, cblB type	GPathogenic
Select item 3241953	NM_052845.4(MMAB):c.584+2T>A	MMAB	Single nucleotide variant (splice donor variant)	Methylmalonic aciduria, cblB type	GLikely pathogenic
Select item 3239722	NM_052845.4(MMAB):c.197-2A>G	MMAB	Single nucleotide variant (splice acceptor variant)	Methylmalonic aciduria, cblB type	GLikely pathogenic
Select item 3239721	NM_052845.4(MMAB):c.599dup (p.Gln201fs)	MMAB (Q201fs)	Duplication (frameshift variant +1 more)	Methylmalonic aciduria, cblB type	GLikely pathogenic
Select item 3065041	NM_052845.4(MMAB):c.659T>C (p.Leu220Pro)	MMAB (L220P)	Single nucleotide variant (missense variant +1 more)	Methylmalonic aciduria, cblB type	GUncertain significance
Select item 2917603	NM_052845.4(MMAB):c.134+14G>A	MMAB, MVK	Single nucleotide variant (intron variant)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 2900700	NM_052845.4(MMAB):c.55_57delinsTAA (p.Arg19Ter)	MMAB, MVK (R19*)	Indel (nonsense +1 more)	Methylmalonic aciduria, cblB type	GPathogenic
Select item 2881986	NM_052845.4(MMAB):c.134+16del	MMAB, MVK	Deletion (intron variant)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 2876018	NM_052845.4(MMAB):c.39G>T (p.Gly13=)	MMAB, MVK	Single nucleotide variant (synonymous variant +1 more)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 2823761	NM_052845.4(MMAB):c.33C>T (p.Gly11=)	MMAB, MVK	Single nucleotide variant (synonymous variant +1 more)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 2802085	NM_052845.4(MMAB):c.134+7G>A	MMAB, MVK	Single nucleotide variant (intron variant)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 2790490	NM_052845.4(MMAB):c.134+20G>A	MMAB, MVK	Single nucleotide variant (intron variant)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 2772887	NM_052845.4(MMAB):c.24C>T (p.Ser8=)	MMAB, MVK	Single nucleotide variant (synonymous variant +1 more)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 2754610	NM_052845.4(MMAB):c.2T>A (p.Met1Lys)	MMAB, MVK (M1K)	Single nucleotide variant (missense variant +2 more)	Methylmalonic aciduria, cblB type	GPathogenic
Select item 2746291	NM_052845.4(MMAB):c.116del (p.Gly39fs)	MVK, MMAB (G39fs)	Deletion (frameshift variant +1 more)	Methylmalonic aciduria, cblB type	GPathogenic
Select item 2715184	NM_052845.4(MMAB):c.134+1G>T	MMAB, MVK	Single nucleotide variant (splice donor variant)	Methylmalonic aciduria, cblB type	GLikely pathogenic
Select item 2676618	NM_052845.4(MMAB):c.63C>A (p.Cys21Ter)	MMAB, MVK (C21*)	Single nucleotide variant (nonsense +1 more)	Methylmalonic aciduria, cblB type	GLikely pathogenic
Select item 2676617	NM_052845.4(MMAB):c.539C>A (p.Ser180Ter)	MMAB (S180*)	Single nucleotide variant (nonsense +1 more)	Methylmalonic aciduria, cblB type	GLikely pathogenic
Select item 2676616	NM_052845.4(MMAB):c.32del (p.Gly11fs)	MMAB, MVK (G11fs)	Deletion (frameshift variant +1 more)	Methylmalonic aciduria, cblB type	GLikely pathogenic
Select item 2676615	NM_052845.4(MMAB):c.502dup (p.Thr168fs)	MMAB (T168fs)	Duplication (frameshift variant +1 more)	Methylmalonic aciduria, cblB type	GLikely pathogenic
Select item 2676614	NM_052845.4(MMAB):c.112C>T (p.Gln38Ter)	MMAB, MVK (Q38*)	Single nucleotide variant (nonsense +1 more)	Methylmalonic aciduria, cblB type	GLikely pathogenic
Select item 2676613	NM_052845.4(MMAB):c.541_554dup (p.Cys185fs)	MMAB (C185fs)	Duplication (frameshift variant +1 more)	Methylmalonic aciduria, cblB type	GLikely pathogenic
Select item 2585574	NM_052845.4(MMAB):c.88C>T (p.Pro30Ser)	MMAB, MVK (P30S)	Single nucleotide variant (missense variant +1 more)	Methylmalonic aciduria, cblB type	GUncertain significance
Select item 2433760	NM_052845.4(MMAB):c.556C>G (p.Arg186Gly)	MMAB (R186G)	Single nucleotide variant (missense variant +1 more)	Methylmalonic aciduria, cblB type	GUncertain significance
Select item 2144216	NM_052845.4(MMAB):c.66C>G (p.Phe22Leu)	MMAB, MVK (F22L)	Single nucleotide variant (missense variant +1 more)	Methylmalonic aciduria, cblB type	GUncertain significance
Select item 2099357	NM_052845.4(MMAB):c.42C>T (p.Ser14=)	MMAB, MVK	Single nucleotide variant (synonymous variant +1 more)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 2090269	NM_052845.4(MMAB):c.111T>G (p.Pro37=)	MMAB, MVK	Single nucleotide variant (synonymous variant +1 more)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 2062416	NM_052845.4(MMAB):c.78G>A (p.Arg26=)	MMAB, MVK	Single nucleotide variant (synonymous variant +1 more)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 2028517	NM_052845.4(MMAB):c.134+2T>A	MMAB, MVK	Single nucleotide variant (splice donor variant)	Methylmalonic aciduria, cblB type	GLikely pathogenic
Select item 2010847	NM_052845.4(MMAB):c.134+10T>G	MMAB, MVK	Single nucleotide variant (intron variant)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 2005568	NM_052845.4(MMAB):c.108C>A (p.Gly36=)	MMAB, MVK	Single nucleotide variant (synonymous variant +1 more)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 1999651	NM_052845.4(MMAB):c.6T>A (p.Ala2=)	MVK, MMAB	Single nucleotide variant (synonymous variant +1 more)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 1979326	NM_052845.4(MMAB):c.102C>T (p.Ser34=)	MMAB, MVK	Single nucleotide variant (synonymous variant +1 more)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 1977334	NM_052845.4(MMAB):c.27T>G (p.Arg9=)	MMAB, MVK	Single nucleotide variant (synonymous variant +1 more)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 1966451	NM_052845.4(MMAB):c.18G>A (p.Leu6=)	MMAB, MVK	Single nucleotide variant (synonymous variant +1 more)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 1656843	NM_052845.4(MMAB):c.132C>T (p.Asp44=)	MMAB, MVK	Single nucleotide variant (synonymous variant +1 more)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 1636210	NM_052845.4(MMAB):c.126C>T (p.Asp42=)	MMAB, MVK	Single nucleotide variant (synonymous variant +1 more)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 1624891	NM_052845.4(MMAB):c.60G>A (p.Gly20=)	MMAB, MVK	Single nucleotide variant (synonymous variant +1 more)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 1607092	NM_052845.4(MMAB):c.54G>A (p.Leu18=)	MVK, MMAB	Single nucleotide variant (synonymous variant +1 more)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 1592164	NM_052845.4(MMAB):c.52C>A (p.Leu18Met)	MMAB, MVK (L18M)	Single nucleotide variant (missense variant +1 more)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 1582021	NM_052845.4(MMAB):c.57C>G (p.Arg19=)	MMAB, MVK	Single nucleotide variant (synonymous variant +1 more)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 1567596	NM_052845.4(MMAB):c.108C>T (p.Gly36=)	MMAB, MVK	Single nucleotide variant (synonymous variant +1 more)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 1532233	NM_052845.4(MMAB):c.66C>T (p.Phe22=)	MMAB, MVK	Single nucleotide variant (synonymous variant +1 more)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 1520198	NM_052845.4(MMAB):c.61T>A (p.Cys21Ser)	MVK, MMAB (C21S)	Single nucleotide variant (missense variant +1 more)	Methylmalonic aciduria, cblB type	GUncertain significance
Select item 1434079	NM_052845.4(MMAB):c.61dup (p.Cys21fs)	MMAB, MVK (C21fs)	Duplication (frameshift variant +1 more)	Methylmalonic aciduria, cblB type	GPathogenic
Select item 1209579	NM_052845.4(MMAB):c.35T>C (p.Leu12Pro)	MMAB, MVK (L12P)	Single nucleotide variant (missense variant +1 more)	Methylmalonic aciduria, cblB type	GUncertain significance
Select item 1174001	NM_052845.4(MMAB):c.650G>T (p.Ser217Ile)	MMAB (S217I)	Single nucleotide variant (missense variant +1 more)	Methylmalonic aciduria, cblB type	GPathogenic
Select item 1174000	NM_052845.4(MMAB):c.581_582dup (p.Arg195fs)	MMAB (R195fs)	Microsatellite (frameshift variant +1 more)	Methylmalonic aciduria, cblB type	GPathogenic
Select item 1173999	NM_052845.4(MMAB):c.560_561insGGCACGGGC (p.Ala187_Val188insAlaArgAla)	MMAB	Insertion (inframe_insertion +1 more)	Methylmalonic aciduria, cblB type	GPathogenic
Select item 1173998	NM_052845.4(MMAB):c.558_559delinsC (p.Ala187fs)	MMAB (A187fs)	Indel (frameshift variant +1 more)	Methylmalonic aciduria, cblB type	GPathogenic
Select item 1173997	NM_052845.4(MMAB):c.487C>T (p.Gln163Ter)	MMAB (Q163*)	Single nucleotide variant (nonsense +1 more)	Methylmalonic aciduria, cblB type	GPathogenic
Select item 1173996	NM_052845.4(MMAB):c.462G>T (p.Glu154Asp)	MMAB (E154D)	Single nucleotide variant (missense variant +1 more)	Methylmalonic aciduria, cblB type	GPathogenic
Select item 1173994	NM_052845.4(MMAB):c.380C>A (p.Ala127Asp)	MMAB (A127D)	Single nucleotide variant (missense variant +1 more)	Methylmalonic aciduria, cblB type	GLikely pathogenic
Select item 1173992	NM_052845.4(MMAB):c.348+2_348+3del	MMAB	Deletion (splice donor variant)	Methylmalonic aciduria, cblB type	GPathogenic
Select item 1173991	NM_052845.4(MMAB):c.291-1G>T	MMAB	Single nucleotide variant (splice acceptor variant)	Methylmalonic aciduria, cblB type	GPathogenic
Select item 1173990	NM_052845.4(MMAB):c.135-1G>A	MMAB	Single nucleotide variant (splice acceptor variant)	Methylmalonic aciduria, cblB type	GPathogenic
Select item 1173989	NM_052845.4(MMAB):c.87T>A (p.Tyr29Ter)	MMAB, MVK (Y29*)	Single nucleotide variant (nonsense +1 more)	Methylmalonic aciduria, cblB type	GPathogenic
Select item 1173988	NM_052845.4(MMAB):c.23del (p.Ser8fs)	MMAB, MVK (S8fs)	Deletion (frameshift variant +1 more)	Methylmalonic aciduria, cblB type	GPathogenic
Select item 1144911	NM_052845.4(MMAB):c.105C>T (p.Arg35=)	MMAB, MVK	Single nucleotide variant (synonymous variant +1 more)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 1125192	NM_052845.4(MMAB):c.91C>T (p.Arg31Cys)	MMAB, MVK (R31C)	Single nucleotide variant (missense variant +1 more)	Methylmalonic aciduria, cblB type	GConflicting classifications of pathogenicity
Select item 1118055	NM_052845.4(MMAB):c.52C>T (p.Leu18=)	MMAB, MVK	Single nucleotide variant (synonymous variant +1 more)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 1115896	NM_052845.4(MMAB):c.60G>T (p.Gly20=)	MMAB, MVK	Single nucleotide variant (synonymous variant +1 more)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 1108421	NM_052845.4(MMAB):c.84G>A (p.Leu28=)	MMAB, MVK	Single nucleotide variant (synonymous variant +1 more)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 1077513	NM_052845.4(MMAB):c.30T>C (p.Leu10=)	MMAB, MVK	Single nucleotide variant (synonymous variant +1 more)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 1066680	NM_052845.4(MMAB):c.2T>G (p.Met1Arg)	MVK, MMAB (M1R)	Single nucleotide variant (missense variant +2 more)	Methylmalonic aciduria, cblB type	GLikely pathogenic
Select item 1015658	NM_052845.4(MMAB):c.41G>A (p.Ser14Asn)	MMAB, MVK (S14N)	Single nucleotide variant (missense variant +1 more)	Methylmalonic aciduria, cblB type	GUncertain significance
Select item 989541	NM_052845.4(MMAB):c.14G>A (p.Gly5Asp)	MMAB, MVK (G5D)	Single nucleotide variant (missense variant +1 more)	Methylmalonic aciduria, cblB type +1 more	GUncertain significance
Select item 989540	NM_052845.4(MMAB):c.116G>A (p.Gly39Asp)	MMAB, MVK (G39D)	Single nucleotide variant (missense variant +1 more)	Methylmalonic aciduria, cblB type	GUncertain significance
Select item 883487	NM_052845.4(MMAB):c.7G>A (p.Val3Met)	MMAB, MVK (V3M)	Single nucleotide variant (missense variant +1 more)	Methylmalonic aciduria, cblB type	GUncertain significance
Select item 883486	NM_052845.4(MMAB):c.68G>A (p.Gly23Asp)	MMAB, MVK (G23D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 881123	NM_052845.4(MMAB):c.-11C>G	MVK, MMAB	Single nucleotide variant (5 prime UTR variant +1 more)	Mevalonic aciduria +2 more	GUncertain significance
Select item 861176	NM_052845.4(MMAB):c.1A>C (p.Met1Leu)	MMAB, MVK (M1L)	Single nucleotide variant (missense variant +2 more)	Methylmalonic aciduria, cblB type	GPathogenic
Select item 859242	NM_052845.4(MMAB):c.44G>A (p.Arg15His)	MMAB, MVK (R15H)	Single nucleotide variant (missense variant +1 more)	Methylmalonic aciduria, cblB type	GUncertain significance
Select item 798072	NM_052845.4(MMAB):c.16C>T (p.Leu6=)	MMAB, MVK	Single nucleotide variant (synonymous variant +1 more)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 763309	NM_052845.4(MMAB):c.99G>A (p.Gln33=)	MMAB, MVK	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 747752	NM_052845.4(MMAB):c.27T>C (p.Arg9=)	MVK, MMAB	Single nucleotide variant (synonymous variant +1 more)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 727710	NM_052845.4(MMAB):c.57C>T (p.Arg19=)	MMAB, MVK	Single nucleotide variant (synonymous variant +1 more)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 711515	NM_052845.4(MMAB):c.10T>C (p.Cys4Arg)	MVK, MMAB (C4R)	Single nucleotide variant (missense variant +1 more)	Methylmalonic aciduria, cblB type	GConflicting classifications of pathogenicity
Select item 618212	NM_052845.4(MMAB):c.43C>T (p.Arg15Cys)	MMAB, MVK (R15C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 557303	NM_052845.4(MMAB):c.107del (p.Gly36fs)	MMAB, MVK (G36fs)	Deletion (frameshift variant +1 more)	Methylmalonic aciduria, cblB type	GLikely pathogenic
Select item 550793	NM_052845.4(MMAB):c.12C>A (p.Cys4Ter)	MMAB, MVK (C4*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 513728	NM_052845.4(MMAB):c.-7C>G	MMAB, MVK	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 374543	NM_052845.4(MMAB):c.582A>T (p.Arg194Ser)	MMAB (R194S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 307083	NM_052845.4(MMAB):c.-9G>T	MMAB, MVK	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 307082	NM_052845.4(MMAB):c.-4G>C	MMAB, MVK	Single nucleotide variant (5 prime UTR variant +1 more)	Methylmalonic aciduria, cblB type +1 more	GConflicting classifications of pathogenicity
Select item 284358	NM_052845.4(MMAB):c.79C>T (p.Leu27Phe)	MMAB, MVK (L27F)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 262247	NM_052845.4(MMAB):c.57C>A (p.Arg19=)	MMAB, MVK	Single nucleotide variant (synonymous variant +1 more)	Methylmalonic acidemia +5 more	GBenign
Select item 262246	NM_052845.4(MMAB):c.56G>A (p.Arg19His)	MMAB, MVK (R19H)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GBenign
Select item 225187	NM_052845.4(MMAB):c.2T>C (p.Met1Thr)	MMAB, MVK (M1T)	Single nucleotide variant (missense variant +2 more)	Methylmalonic aciduria, cblB type	GPathogenic
Select item 219003	NM_052845.4(MMAB):c.56_57delinsAA (p.Arg19Gln)	MMAB, MVK (R19Q)	Indel (missense variant +1 more)	not provided +1 more	GBenign
Select item 208198	NM_052845.4(MMAB):c.19GGGAGCCGTCTTGGCCTG[1] (p.7GSRLGL[1])	MMAB, MVK	Microsatellite (inframe_deletion +1 more)	Methylmalonic aciduria, cblB type	GUncertain significance

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Items: 93